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

Basic Information

Gene ID

4057

Name

LTF

Synonymous

lactotransferrin;LTF;lactotransferrin

Definition

epididymis luminal protein 110|growth-inhibiting protein 12|kaliocin-1|lactoferricin|lactoferroxin|neutrophil lactoferrin|talalactoferrin

Position

3p21.31

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 0.10.

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.2073T>A; p.T691T; 3:46437965-46437965

 prostatecarcinomaSubstitution - coding silent

c.818C>T; p.A273V; 3:46450559-46450559

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.65_66insCGA; p.R22>SE; 3:46459797-46459798

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaComplex - insertion inframe

c.1879C>T; p.R627C; 3:46439325-46439325

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1879C>T; p.R627C; 3:46439325-46439325

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.555C>T; p.F185F; 3:46455387-46455387

 skinmalignant_melanomaSubstitution - coding silent

c.1325C>T; p.P442L; 3:46446472-46446472

 skinmalignant_melanomaSubstitution - Missense

c.332A>G; p.Y111C; 3:46455963-46455963

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1316G>T; p.S439I; 3:46446481-46446481

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1299C>G; p.N433K; 3:46447312-46447312

 breastcarcinomaSubstitution - Missense

c.1559C>A; p.S520Y; 3:46443537-46443537

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1162G>A; p.V388M; 3:46448913-46448913

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1200C>A; p.I400I; 3:46448875-46448875

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.732C>T; p.D244D; 3:46450645-46450645

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1737G>T; p.E579D; 3:46439467-46439467

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1152C>T; p.S384S; 3:46448923-46448923

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1894T>C; p.L632L; 3:46439310-46439310

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.271T>G; p.Y91D; 3:46456335-46456335

 bone; ribchondrosarcomaSubstitution - Missense

c.1719T>C; p.T573T; 3:46441420-46441420

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.763C>A; p.R255R; 3:46450614-46450614

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.220G>A; p.D74N; 3:46456386-46456386

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1053G>A; p.R351R; 3:46449858-46449858

 skinmalignant_melanomaSubstitution - coding silent

c.1488C>A; p.F496L; 3:46445306-46445306

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1229C>T; p.A410V; 3:46447382-46447382

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1676G>A; p.G559E; 3:46441463-46441463

 skinmalignant_melanomaSubstitution - Missense

c.323G>A; p.R108Q; 3:46455972-46455972

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.266C>T; p.A89V; 3:46456340-46456340

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.323G>A; p.R108Q; 3:46455972-46455972

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.266C>T; p.A89V; 3:46456340-46456340

 skinmalignant_melanomaSubstitution - Missense

c.66G>A; p.R22R; 3:46459797-46459797

 pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

c.8T>C; p.L3P; 3:46464860-46464860

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1545G>A; p.G515G; 3:46443551-46443551

 livercarcinomaSubstitution - coding silent

c.66_67insAA; p.R23fs*24; 3:46459796-46459797

 skin; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.1545G>A; p.G515G; 3:46443551-46443551

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.1623C>T; p.N541N; 3:46443473-46443473

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.747C>T; p.L249L; 3:46450630-46450630

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.140A>G; p.K47R; 3:46459723-46459723

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.140A>G; p.K47R; 3:46459723-46459723

 thyroidother; neoplasmSubstitution - Missense

c.728G>T; p.R243M; 3:46450649-46450649

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1852G>T; p.V618L; 3:46439352-46439352

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.251A>G; p.Y84C; 3:46456355-46456355

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1406G>A; p.W469*; 3:46445388-46445388

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.684_685insAG; p.S231fs*50; 3:46454323-46454324

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.986T>A; p.V329E; 3:46449925-46449925

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1243G>A; p.G415R; 3:46447368-46447368

 skinmalignant_melanomaSubstitution - Missense

c.1516G>A; p.E506K; 3:46443580-46443580

 skinmalignant_melanomaSubstitution - Missense

c.1516G>A; p.E506K; 3:46443580-46443580

 skinmalignant_melanomaSubstitution - Missense

c.446G>A; p.G149E; 3:46455849-46455849

 skinmalignant_melanomaSubstitution - Missense

c.1196G>A; p.C399Y; 3:46448879-46448879

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.446G>A; p.G149E; 3:46455849-46455849

 skinmalignant_melanomaSubstitution - Missense

c.2106G>A; p.L702L; 3:46436222-46436222

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1531A>T; p.S511C; 3:46443565-46443565

 pancreascarcinomaSubstitution - Missense

c.145C>T; p.R49C; 3:46459718-46459718

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1927G>T; p.G643*; 3:46438111-46438111

 oesophaguscarcinomaSubstitution - Nonsense

c.145C>T; p.R49C; 3:46459718-46459718

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.145C>T; p.R49C; 3:46459718-46459718

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.145C>T; p.R49C; 3:46459718-46459718

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.145C>T; p.R49C; 3:46459718-46459718

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1441G>A; p.A481T; 3:46445353-46445353

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.883-10_883-9insT; p.?; 3:46450037-46450038

 livercarcinomaUnknown

c.1737G>C; p.E579D; 3:46439467-46439467

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1441G>A; p.A481T; 3:46445353-46445353

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.588G>A; p.G196G; 3:46455354-46455354

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.218C>T; p.A73V; 3:46456388-46456388

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.360C>T; p.G120G; 3:46455935-46455935

 stomachadenocarcinomaSubstitution - coding silent

c.360C>T; p.G120G; 3:46455935-46455935

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1944C>A; p.D648E; 3:46438094-46438094

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1713G>T; p.Q571H; 3:46441426-46441426

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.850G>C; p.D284H; 3:46450527-46450527

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.696A>C; p.T232T; 3:46454312-46454312

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1524C>T; p.F508F; 3:46443572-46443572

 skinmalignant_melanomaSubstitution - coding silent

c.1082G>A; p.R361H; 3:46448993-46448993

 pancreascarcinomaSubstitution - Missense

c.992delC; p.P331fs*3; 3:46449919-46449919

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.87C>A; p.A29A; 3:46459776-46459776

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.34G>A; p.G12R; 3:46464834-46464834

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1082G>A; p.R361H; 3:46448993-46448993

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.178T>C; p.S60P; 3:46459685-46459685

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1470C>T; p.I490I; 3:46445324-46445324

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.422C>T; p.T141I; 3:46455873-46455873

 skinmalignant_melanomaSubstitution - Missense

c.980C>T; p.S327L; 3:46449931-46449931

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.85G>A; p.A29T; 3:46459778-46459778

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.85G>A; p.A29T; 3:46459778-46459778

 thyroidother; neoplasmSubstitution - Missense

c.416G>A; p.R139H; 3:46455879-46455879

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2030C>T; p.T677I; 3:46438008-46438008

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.946G>T; p.D316Y; 3:46449965-46449965

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1191G>A; p.E397E; 3:46448884-46448884

 skinmalignant_melanomaSubstitution - coding silent

c.339C>T; p.A113A; 3:46455956-46455956

 breastcarcinomaSubstitution - coding silent

c.1824C>T; p.C608C; 3:46439380-46439380

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.361G>A; p.G121S; 3:46455934-46455934

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1649C>T; p.A550V; 3:46443447-46443447

 thyroidcarcinomaSubstitution - Missense

c.165C>T; p.C55C; 3:46459698-46459698

 ovaryother; neoplasmSubstitution - coding silent

c.165C>T; p.C55C; 3:46459698-46459698

 ovaryother; neoplasmSubstitution - coding silent

c.1855G>A; p.V619M; 3:46439349-46439349

 skin; trunkmalignant_melanomaSubstitution - Missense

c.1200C>T; p.I400I; 3:46448875-46448875

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1477G>T; p.G493C; 3:46445317-46445317

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.1477G>T; p.G493C; 3:46445317-46445317

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.513C>G; p.F171L; 3:46455429-46455429

 breastcarcinomaSubstitution - Missense

c.2061C>T; p.V687V; 3:46437977-46437977

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.834T>C; p.S278S; 3:46450543-46450543

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.1201G>A; p.A401T; 3:46448874-46448874

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - In frame

c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - In frame

c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - In frame

c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - In frame

c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - In frame

c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - In frame

c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - In frame

c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - In frame

c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - In frame

c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - In frame

c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - In frame

c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - In frame

c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - In frame

c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - In frame

c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - In frame

c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - In frame

c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - In frame

c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - In frame

c.1201G>A; p.A401T; 3:46448874-46448874

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - In frame

c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - In frame

c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - In frame

c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - In frame

c.2079G>A; p.L693L; 3:46437959-46437959

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.586delG; p.E197fs*22; 3:46455356-46455356

 breastcarcinomaDeletion - Frameshift

c.398C>T; p.S133F; 3:46455897-46455897

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.763C>T; p.R255W; 3:46450614-46450614

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1978C>T; p.L660F; 3:46438060-46438060

 skinmalignant_melanomaSubstitution - Missense

c.763C>T; p.R255W; 3:46450614-46450614

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.281G>A; p.R94Q; 3:46456325-46456325

 NSmalignant_melanomaSubstitution - Missense

c.487_488CC>TT; p.P163F; 3:46455807-46455808

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.104C>T; p.A35V; 3:46459759-46459759

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1066G>A; p.E356K; 3:46449009-46449009

 skinmalignant_melanomaSubstitution - Missense

c.1066G>A; p.E356K; 3:46449009-46449009

 skinmalignant_melanomaSubstitution - Missense

c.1066G>A; p.E356K; 3:46449009-46449009

 skinmalignant_melanomaSubstitution - Missense

c.1694A>G; p.K565R; 3:46441445-46441445

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1502C>A; p.S501Y; 3:46445292-46445292

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1941G>A; p.P647P; 3:46438097-46438097

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.199G>T; p.A67S; 3:46459664-46459664

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.684C>T; p.I228I; 3:46454324-46454324

 skinmalignant_melanomaSubstitution - coding silent

c.357G>C; p.K119N; 3:46455938-46455938

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1163T>A; p.V388E; 3:46448912-46448912

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.475G>A; p.G159S; 3:46455820-46455820

 skinmalignant_melanomaSubstitution - Missense

c.192T>C; p.C64C; 3:46459671-46459671

 breastcarcinomaSubstitution - coding silent

c.522C>T; p.A174A; 3:46455420-46455420

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.968C>T; p.A323V; 3:46449943-46449943

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.615_616GG>TT; p.Q205_E206>H*; 3:46455326-46455327

 lungcarcinoma; adenocarcinomaComplex - compound substitution

c.2090C>T; p.S697L; 3:46437948-46437948

 breastcarcinomaSubstitution - Missense

c.1905A>G; p.Q635Q; 3:46439299-46439299

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.253G>A; p.E85K; 3:46456353-46456353

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1681G>A; p.V561I; 3:46441458-46441458

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.253G>A; p.E85K; 3:46456353-46456353

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.173G>T; p.R58I; 3:46459690-46459690

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.409_410GG>AA; p.G137N; 3:46455885-46455886

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.921C>G; p.L307L; 3:46449990-46449990

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.2035G>A; p.E679K; 3:46438003-46438003

 skinmalignant_melanomaSubstitution - Missense

c.2035G>A; p.E679K; 3:46438003-46438003

 skinmalignant_melanomaSubstitution - Missense

c.921C>G; p.L307L; 3:46449990-46449990

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2035G>A; p.E679K; 3:46438003-46438003

 skin; trunkmalignant_melanomaSubstitution - Missense

c.1078C>T; p.R360W; 3:46448997-46448997

 pancreascarcinomaSubstitution - Missense

c.1479C>T; p.G493G; 3:46445315-46445315

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.415C>T; p.R139C; 3:46455880-46455880

 skinmalignant_melanomaSubstitution - Missense

c.1304-1G>A; p.?; 3:46446494-46446494

 skinmalignant_melanomaUnknown

c.1631A>G; p.Y544C; 3:46443465-46443465

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1210C>T; p.L404L; 3:46448865-46448865

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.100G>A; p.E34K; 3:46459763-46459763

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.711G>A; p.L237L; 3:46450666-46450666

 breastcarcinomaSubstitution - coding silent

c.100G>A; p.E34K; 3:46459763-46459763

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.814C>G; p.H272D; 3:46450563-46450563

 thyroidother; neoplasmSubstitution - Missense

c.6delA; p.K2fs*44; 3:46464862-46464862

 breastcarcinomaDeletion - Frameshift

c.1863G>A; p.R621R; 3:46439341-46439341

 skinmalignant_melanomaSubstitution - coding silent

c.1772C>T; p.A591V; 3:46439432-46439432

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.455G>A; p.R152H; 3:46455840-46455840

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.455G>A; p.R152H; 3:46455840-46455840

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.458C>A; p.P153Q; 3:46455837-46455837

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.1619G>A; p.S540N; 3:46443477-46443477

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.458C>A; p.P153Q; 3:46455837-46455837

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastomaSubstitution - Missense

c.1092C>T; p.V364V; 3:46448983-46448983

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.1092C>T; p.V364V; 3:46448983-46448983

 thyroidother; neoplasmSubstitution - coding silent

c.897G>A; p.K299K; 3:46450014-46450014

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.630C>T; p.S210S; 3:46455312-46455312

 autonomic_ganglianeuroblastomaSubstitution - coding silent

c.830G>A; p.R277Q; 3:46450547-46450547

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.830G>A; p.R277Q; 3:46450547-46450547

 skinmalignant_melanomaSubstitution - Missense

c.615G>T; p.Q205H; 3:46455327-46455327

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.692_693insAG; p.S231fs*50; 3:46454315-46454316

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.1170C>A; p.C390*; 3:46448905-46448905

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1842G>A; p.P614P; 3:46439362-46439362

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.189G>A; p.Q63Q; 3:46459674-46459674

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1157G>A; p.G386D; 3:46448918-46448918

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.88G>A; p.V30I; 3:46459775-46459775

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1358G>A; p.G453E; 3:46445436-46445436

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.419G>A; p.R140K; 3:46455876-46455876

 skinmalignant_melanomaSubstitution - Missense

c.1829T>A; p.L610H; 3:46439375-46439375

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.303C>T; p.Y101Y; 3:46456303-46456303

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.239G>A; p.G80D; 3:46456367-46456367

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.890T>C; p.F297S; 3:46450021-46450021

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2127G>A; p.R709R; 3:46436201-46436201

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.560delA; p.N187fs*32; 3:46455382-46455382

 skin; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.506C>T; p.A169V; 3:46455436-46455436

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.996G>T; p.R332S; 3:46449915-46449915

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1370_1371insT; p.A458fs*4; 3:46445423-46445424

 breastcarcinoma; basal_(triple-negative)_carcinomaInsertion - Frameshift

c.1549G>T; p.D517Y; 3:46443547-46443547

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.908C>T; p.P303L; 3:46450003-46450003

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.553T>A; p.F185I; 3:46455389-46455389

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.208G>A; p.E70K; 3:46456398-46456398

 NSmalignant_melanomaSubstitution - Missense

c.833G>A; p.S278N; 3:46450544-46450544

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.427G>A; p.G143R; 3:46455868-46455868

 skinmalignant_melanomaSubstitution - Missense

c.1945A>T; p.K649*; 3:46438093-46438093

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1451G>A; p.R484K; 3:46445343-46445343

 skinmalignant_melanomaSubstitution - Missense

c.1330C>A; p.P444T; 3:46446467-46446467

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1608C>T; p.C536C; 3:46443488-46443488

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1608C>T; p.C536C; 3:46443488-46443488

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.564G>A; p.L188L; 3:46455378-46455378

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1471_1472CC>TT; p.P491F; 3:46445322-46445323

 skinmalignant_melanomaSubstitution - Missense

c.454C>T; p.R152C; 3:46455841-46455841

 skinmalignant_melanomaSubstitution - Missense

c.1471_1472CC>TT; p.P491F; 3:46445322-46445323

 skinmalignant_melanomaSubstitution - Missense

c.1963T>C; p.S655P; 3:46438075-46438075

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.792C>T; p.C264C; 3:46450585-46450585

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1044G>A; p.Q348Q; 3:46449867-46449867

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1632C>A; p.Y544*; 3:46443464-46443464

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.865C>T; p.L289F; 3:46450512-46450512

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.495G>T; p.E165D; 3:46455800-46455800

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

')