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

Basic Information

Gene ID

1789

Name

DNMT3B

Synonymous

DNA (cytosine-5-)-methyltransferase 3 beta;DNMT3B;DNA (cytosine-5-)-methyltransferase 3 beta

Definition

DNA (cytosine-5)-methyltransferase 3B|DNA MTase HsaIIIB|DNA methyltransferase HsaIIIB

Position

20q11.2

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 0.13.

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.2339C>T; p.S780L; 20:32806246-32806246

 skin; anklemalignant_melanoma; acral_lentiginousSubstitution - Missense

c.1704C>T; p.P568P; 20:32799273-32799273

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.438G>A; p.L146L; 20:32787235-32787235

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.310C>T; p.R104*; 20:32786505-32786505

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1497C>T; p.F499F; 20:32798466-32798466

 skinmalignant_melanomaSubstitution - coding silent

c.410C>T; p.P137L; 20:32786605-32786605

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.43G>A; p.G15S; 20:32780366-32780366

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1010A>C; p.H337P; 20:32792714-32792714

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.719C>T; p.P240L; 20:32788918-32788918

 skinmalignant_melanomaSubstitution - Missense

c.2452G>A; p.V818M; 20:32807793-32807793

 skinmalignant_melanomaSubstitution - Missense

c.1834G>A; p.A612T; 20:32800227-32800227

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.394C>T; p.H132Y; 20:32786589-32786589

 skinmalignant_melanomaSubstitution - Missense

c.995T>C; p.M332T; 20:32792699-32792699

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2236G>A; p.V746M; 20:32805342-32805342

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.779G>C; p.W260S; 20:32788978-32788978

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.217G>A; p.D73N; 20:32784770-32784770

 breastcarcinomaSubstitution - Missense

c.1641G>A; p.Q547Q; 20:32798610-32798610

 livercarcinomaSubstitution - coding silent

c.2272G>A; p.D758N; 20:32805378-32805378

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1641G>A; p.Q547Q; 20:32798610-32798610

 livercarcinomaSubstitution - coding silent

c.248A>G; p.D83G; 20:32784801-32784801

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.317G>A; p.R106Q; 20:32786512-32786512

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.317G>A; p.R106Q; 20:32786512-32786512

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.248A>G; p.D83G; 20:32784801-32784801

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.723C>G; p.A241A; 20:32788922-32788922

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1636C>A; p.L546M; 20:32798605-32798605

 pancreascarcinomaSubstitution - Missense

c.306+1G>C; p.?; 20:32784860-32784860

 large_intestine; rectumcarcinoma; adenocarcinomaUnknown

c.2559A>G; p.E853E; 20:32807900-32807900

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; polycythaemia_veraSubstitution - coding silent

c.204+1G>A; p.?; 20:32781415-32781415

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.389G>A; p.R130H; 20:32786584-32786584

 pancreascarcinomaSubstitution - Missense

c.1935G>A; p.V645V; 20:32800864-32800864

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1446C>T; p.C482C; 20:32797255-32797255

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.474G>A; p.W158*; 20:32787271-32787271

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1456_1478del23; p.L489fs*57; 20:32797265-32797287

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaDeletion - Frameshift

c.1102A>C; p.R368R; 20:32793571-32793571

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1445G>A; p.C482Y; 20:32797254-32797254

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1841G>T; p.G614V; 20:32800234-32800234

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2232G>T; p.R744S; 20:32805338-32805338

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.96C>T; p.S32S; 20:32780419-32780419

 livercarcinomaSubstitution - coding silent

c.96C>T; p.S32S; 20:32780419-32780419

 livercarcinomaSubstitution - coding silent

c.2134C>T; p.R712W; 20:32801415-32801415

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; essential_thrombocythaemiaSubstitution - Missense

c.343G>A; p.E115K; 20:32786538-32786538

 breastcarcinomaSubstitution - Missense

c.895C>T; p.R299*; 20:32791682-32791682

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.895C>T; p.R299*; 20:32791682-32791682

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1753G>A; p.A585T; 20:32799322-32799322

 ovarycarcinomaSubstitution - Missense

c.1454G>A; p.R485Q; 20:32797263-32797263

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.689G>A; p.W230*; 20:32788888-32788888

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.464G>A; p.G155E; 20:32787261-32787261

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.59C>T; p.S20L; 20:32780382-32780382

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.891C>T; p.S297S; 20:32791678-32791678

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2429G>T; p.G810V; 20:32807770-32807770

 pancreaspancreatic_intraepithelial_neoplasia_(PanIN)Substitution - Missense

c.102G>A; p.S34S; 20:32780425-32780425

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1386C>T; p.F462F; 20:32797195-32797195

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.2518C>T; p.R840*; 20:32807859-32807859

 skinmalignant_melanomaSubstitution - Nonsense

c.154A>C; p.S52R; 20:32781364-32781364

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.158C>T; p.S53L; 20:32781368-32781368

 skin; earmalignant_melanomaSubstitution - Missense

c.1726C>T; p.R576*; 20:32799295-32799295

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1347C>A; p.L449L; 20:32796839-32796839

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1321A>G; p.K441E; 20:32796813-32796813

 thyroidother; neoplasmSubstitution - Missense

c.2156T>C; p.V719A; 20:32802395-32802395

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2072C>T; p.P691L; 20:32801353-32801353

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1532G>A; p.G511D; 20:32798501-32798501

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.421C>T; p.P141S; 20:32786616-32786616

 skinmalignant_melanomaSubstitution - Missense

c.1634G>A; p.R545H; 20:32798603-32798603

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1634G>A; p.R545H; 20:32798603-32798603

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1183G>A; p.A395T; 20:32795465-32795465

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1634G>A; p.R545H; 20:32798603-32798603

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1183G>A; p.A395T; 20:32795465-32795465

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.225C>T; p.D75D; 20:32784778-32784778

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1717C>T; p.R573W; 20:32799286-32799286

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.225C>T; p.D75D; 20:32784778-32784778

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1718G>T; p.R573L; 20:32799287-32799287

 livercarcinomaSubstitution - Missense

c.1006G>C; p.A336P; 20:32792710-32792710

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.2188C>T; p.H730Y; 20:32802427-32802427

 kidneyother; neoplasmSubstitution - Missense

c.2086T>C; p.F696L; 20:32801367-32801367

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1718G>T; p.R573L; 20:32799287-32799287

 livercarcinomaSubstitution - Missense

c.1006G>C; p.A336P; 20:32792710-32792710

 stomachadenocarcinomaSubstitution - Missense

c.1434C>A; p.C478*; 20:32797243-32797243

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1326C>A; p.N442K; 20:32796818-32796818

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1320_1321insGC; p.K441fs*150; 20:32796812-32796813

 kidneycarcinoma; renal_cell_carcinomaInsertion - Frameshift

c.1754C>T; p.A585V; 20:32799323-32799323

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.540G>A; p.T180T; 20:32787337-32787337

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2152C>T; p.P718S; 20:32802391-32802391

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.274C>T; p.R92W; 20:32784827-32784827

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.540G>A; p.T180T; 20:32787337-32787337

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.274C>T; p.R92W; 20:32784827-32784827

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2333C>T; p.S778L; 20:32806240-32806240

 skinmalignant_melanomaSubstitution - Missense

c.2333C>T; p.S778L; 20:32806240-32806240

 skinmalignant_melanomaSubstitution - Missense

c.2060G>A; p.G687D; 20:32801341-32801341

 skinmalignant_melanomaSubstitution - Missense

c.2082G>C; p.W694C; 20:32801363-32801363

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1125C>T; p.Y375Y; 20:32793594-32793594

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.131C>T; p.P44L; 20:32780454-32780454

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.14C>G; p.T5S; 20:32780337-32780337

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1261G>A; p.A421T; 20:32795658-32795658

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1138C>T; p.R380*; 20:32795420-32795420

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1138C>T; p.R380*; 20:32795420-32795420

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1447G>A; p.E483K; 20:32797256-32797256

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1447G>A; p.E483K; 20:32797256-32797256

 skinmalignant_melanomaSubstitution - Missense

c.211A>G; p.T71A; 20:32784764-32784764

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1941C>T; p.G647G; 20:32800870-32800870

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.813G>A; p.E271E; 20:32789012-32789012

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1253-1G>T; p.?; 20:32795649-32795649

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.2197C>T; p.R733*; 20:32802436-32802436

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.360C>T; p.S120S; 20:32786555-32786555

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.516C>T; p.D172D; 20:32787313-32787313

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1353delG; p.L454fs*136; 20:32796845-32796845

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1353delG; p.L454fs*136; 20:32796845-32796845

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.516C>T; p.D172D; 20:32787313-32787313

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1555C>T; p.Q519*; 20:32798524-32798524

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1353delG; p.L454fs*136; 20:32796845-32796845

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.481C>A; p.P161T; 20:32787278-32787278

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1249C>T; p.R417*; 20:32795531-32795531

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1539G>A; p.A513A; 20:32798508-32798508

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.289C>T; p.R97C; 20:32784842-32784842

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1478C>T; p.T493M; 20:32797287-32797287

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1906-6_1906-5delTT; p.?; 20:32800829-32800830

 skinmalignant_melanomaUnknown

c.1755G>A; p.A585A; 20:32799324-32799324

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.2417A>G; p.E806G; 20:32806324-32806324

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1716G>C; p.R572S; 20:32799285-32799285

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.795C>T; p.G265G; 20:32788994-32788994

 kidneyother; neoplasmSubstitution - coding silent

c.1603G>A; p.V535I; 20:32798572-32798572

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.33G>A; p.E11E; 20:32780356-32780356

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2561A>T; p.*854L; 20:32807902-32807902

 livercarcinomaNonstop extension

c.1603G>A; p.V535I; 20:32798572-32798572

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1647C>A; p.F549L; 20:32798616-32798616

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1371A>C; p.T457T; 20:32796863-32796863

 livercarcinomaSubstitution - coding silent

c.1040G>A; p.G347D; 20:32792744-32792744

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1613G>A; p.R538H; 20:32798582-32798582

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2048G>A; p.R683H; 20:32801329-32801329

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.517G>A; p.D173N; 20:32787314-32787314

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1457A>G; p.E486G; 20:32797266-32797266

 livercarcinomaSubstitution - Missense

c.113T>C; p.L38P; 20:32780436-32780436

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.316C>T; p.R106*; 20:32786511-32786511

 skinmalignant_melanomaSubstitution - Nonsense

c.998T>C; p.L333S; 20:32792702-32792702

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.364C>T; p.R122C; 20:32786559-32786559

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.369C>T; p.S123S; 20:32786564-32786564

 skinmalignant_melanomaSubstitution - coding silent

c.1119G>A; p.R373R; 20:32793588-32793588

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.348G>A; p.R116R; 20:32786543-32786543

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1633C>T; p.R545C; 20:32798602-32798602

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1675-2A>T; p.?; 20:32799242-32799242

 lungcarcinoma; small_cell_carcinomaUnknown

c.1209C>G; p.C403W; 20:32795491-32795491

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1572T>C; p.C524C; 20:32798541-32798541

 thyroidother; neoplasmSubstitution - coding silent

c.685G>A; p.V229M; 20:32788884-32788884

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1058C>T; p.T353M; 20:32792762-32792762

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.1193G>A; p.R398H; 20:32795475-32795475

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2155G>T; p.V719L; 20:32802394-32802394

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.460G>T; p.A154S; 20:32787257-32787257

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.129C>T; p.T43T; 20:32780452-32780452

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1693C>T; p.P565S; 20:32799262-32799262

 skinmalignant_melanomaSubstitution - Missense

c.151T>C; p.S51P; 20:32781361-32781361

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.263C>T; p.P88L; 20:32784816-32784816

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.225C>A; p.D75E; 20:32784778-32784778

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1491G>T; p.R497R; 20:32798460-32798460

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1155C>T; p.D385D; 20:32795437-32795437

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.655-3C>A; p.?; 20:32788851-32788851

 stomachcarcinoma; diffuse_adenocarcinomaUnknown

c.251C>G; p.T84S; 20:32784804-32784804

 central_nervous_system; braingliomaSubstitution - Missense

c.342_343GG>TT; p.R114>?; 20:32786537-32786538

 lungcarcinoma; adenocarcinomaComplex

c.1139G>A; p.R380Q; 20:32795421-32795421

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.336C>T; p.S112S; 20:32786531-32786531

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2280G>A; p.L760L; 20:32805386-32805386

 skinmalignant_melanomaSubstitution - coding silent

c.222C>T; p.G74G; 20:32784775-32784775

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.525G>A; p.E175E; 20:32787322-32787322

 skinmalignant_melanomaSubstitution - coding silent

c.458C>T; p.S153L; 20:32787255-32787255

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.536G>T; p.G179V; 20:32787333-32787333

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.97G>A; p.D33N; 20:32780420-32780420

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.609G>A; p.P203P; 20:32787406-32787406

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.2157G>T; p.V719V; 20:32802396-32802396

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2058G>A; p.E686E; 20:32801339-32801339

 skinmalignant_melanomaSubstitution - coding silent

c.1591C>T; p.R531C; 20:32798560-32798560

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.2304A>G; p.L768L; 20:32806211-32806211

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.548G>A; p.S183N; 20:32787345-32787345

 skinmalignant_melanomaSubstitution - Missense

c.738G>T; p.W246C; 20:32788937-32788937

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2343C>T; p.I781I; 20:32806250-32806250

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.63C>T; p.I21I; 20:32780386-32780386

 skinmalignant_melanomaSubstitution - coding silent

c.809C>G; p.S270C; 20:32789008-32789008

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1881C>T; p.D627D; 20:32800274-32800274

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2334G>A; p.S778S; 20:32806241-32806241

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.584G>T; p.S195I; 20:32787381-32787381

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.557delC; p.Y188fs*4; 20:32787354-32787354

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.420C>T; p.F140F; 20:32786615-32786615

 skinmalignant_melanomaSubstitution - coding silent

c.219T>C; p.D73D; 20:32784772-32784772

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2020G>A; p.E674K; 20:32801301-32801301

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.684C>T; p.L228L; 20:32788883-32788883

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2020G>A; p.E674K; 20:32801301-32801301

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1088G>A; p.R363H; 20:32793557-32793557

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2020G>A; p.E674K; 20:32801301-32801301

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.813+5G>A; p.?; 20:32789017-32789017

 lungcarcinoma; small_cell_carcinomaUnknown

c.687G>A; p.V229V; 20:32788886-32788886

 breastcarcinomaSubstitution - coding silent

c.1804G>A; p.V602I; 20:32800197-32800197

 pancreascarcinomaSubstitution - Missense

c.2051C>T; p.P684L; 20:32801332-32801332

 skinmalignant_melanomaSubstitution - Missense

c.285G>A; p.R95R; 20:32784838-32784838

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2051C>T; p.P684L; 20:32801332-32801332

 skinmalignant_melanomaSubstitution - Missense

c.1804G>A; p.V602I; 20:32800197-32800197

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1750A>T; p.I584F; 20:32799319-32799319

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.1846G>A; p.V616M; 20:32800239-32800239

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1712G>A; p.R571Q; 20:32799281-32799281

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1846G>A; p.V616M; 20:32800239-32800239

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1614C>T; p.R538R; 20:32798583-32798583

 skinmalignant_melanomaSubstitution - coding silent

c.1803C>T; p.Y601Y; 20:32800196-32800196

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1228C>T; p.R410*; 20:32795510-32795510

 skin; scalpmalignant_melanomaSubstitution - Nonsense

c.1918G>A; p.G640S; 20:32800847-32800847

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.896G>A; p.R299Q; 20:32791683-32791683

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1243C>A; p.Q415K; 20:32795525-32795525

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2115C>T; p.G705G; 20:32801396-32801396

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1727G>A; p.R576Q; 20:32799296-32799296

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1609C>T; p.R537W; 20:32798578-32798578

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1609C>T; p.R537W; 20:32798578-32798578

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1609C>T; p.R537W; 20:32798578-32798578

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2533C>T; p.P845S; 20:32807874-32807874

 skinmalignant_melanomaSubstitution - Missense

c.592G>C; p.G198R; 20:32787389-32787389

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.234T>C; p.D78D; 20:32784787-32784787

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2340G>A; p.S780S; 20:32806247-32806247

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.364C>G; p.R122G; 20:32786559-32786559

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.2209G>T; p.G737C; 20:32802448-32802448

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2240T>C; p.I747T; 20:32805346-32805346

 breastcarcinomaSubstitution - Missense

c.561C>A; p.P187P; 20:32787358-32787358

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.132G>A; p.P44P; 20:32780455-32780455

 central_nervous_system; braingliomaSubstitution - coding silent

c.720C>A; p.P240P; 20:32788919-32788919

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.906G>A; p.M302I; 20:32791693-32791693

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.934C>T; p.R312*; 20:32792638-32792638

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1879G>A; p.D627N; 20:32800272-32800272

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1907T>A; p.I636N; 20:32800836-32800836

 pancreascarcinomaSubstitution - Missense

c.2132C>A; p.S711*; 20:32801413-32801413

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.475C>T; p.P159S; 20:32787272-32787272

 skinmalignant_melanomaSubstitution - Missense

c.634G>A; p.G212R; 20:32787431-32787431

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1674T>C; p.Y558Y; 20:32798643-32798643

 thyroidother; neoplasmSubstitution - coding silent

c.1674T>C; p.Y558Y; 20:32798643-32798643

 thyroidother; neoplasmSubstitution - coding silent

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