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

Basic Information

Gene ID

2103

Name

ESRRB

Synonymous

estrogen-related receptor beta;ESRRB;estrogen-related receptor beta

Definition

ERR beta-2|ERR-beta|ERRbeta-2|estrogen receptor-like 2|estrogen-related nuclear receptor beta|nuclear receptor ERRB2|nuclear receptor subfamily 3 group B member 2|orphan nuclear receptor|steroid hormone receptor ERR2

Position

14q24.3

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 0.05.

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.137G>A; p.G46D; 14:76439490-76439490

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.632A>C; p.K211T; 14:76482604-76482604

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1170C>T; p.G390G; 14:76498326-76498326

 breastcarcinomaSubstitution - coding silent

c.130G>A; p.G44S; 14:76439483-76439483

 central_nervous_system; braingliomaSubstitution - Missense

c.412A>G; p.S138G; 14:76462559-76462559

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1081G>T; p.E361*; 14:76498237-76498237

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.501G>A; p.G167G; 14:76462648-76462648

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.692G>A; p.G231D; 14:76482664-76482664

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.530G>T; p.R177L; 14:76482031-76482031

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.938G>A; p.R313H; 14:76491597-76491597

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.127G>A; p.G43S; 14:76439480-76439480

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.669G>A; p.K223K; 14:76482641-76482641

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1206G>A; p.T402T; 14:76498362-76498362

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.849_850CC>TT; p.L284F; 14:76491508-76491509

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.372G>T; p.K124N; 14:76439725-76439725

 skinmalignant_melanomaSubstitution - Missense

c.886G>A; p.D296N; 14:76491545-76491545

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.788-7C>T; p.?; 14:76491440-76491440

 skin; head_neckmalignant_melanoma; superficial_spreadingUnknown

c.886G>A; p.D296N; 14:76491545-76491545

 NSmalignant_melanomaSubstitution - Missense

c.886G>A; p.D296N; 14:76491545-76491545

 NSmalignant_melanomaSubstitution - Missense

c.521G>T; p.R174L; 14:76482022-76482022

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.729C>A; p.L243L; 14:76482701-76482701

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.759C>T; p.V253V; 14:76482731-76482731

 skinmalignant_melanomaSubstitution - coding silent

c.729C>A; p.L243L; 14:76482701-76482701

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.803C>T; p.S268F; 14:76491462-76491462

 skinmalignant_melanomaSubstitution - Missense

c.229G>A; p.E77K; 14:76439582-76439582

 skinmalignant_melanomaSubstitution - Missense

c.670C>G; p.L224V; 14:76482642-76482642

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1147C>T; p.H383Y; 14:76498303-76498303

 skinmalignant_melanomaSubstitution - Missense

c.349G>A; p.V117M; 14:76439702-76439702

 livercarcinomaSubstitution - Missense

c.349G>A; p.V117M; 14:76439702-76439702

 livercarcinomaSubstitution - Missense

c.349G>A; p.V117M; 14:76439702-76439702

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.29C>T; p.S10F; 14:76439382-76439382

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.436G>A; p.E146K; 14:76462583-76462583

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.742G>T; p.D248Y; 14:76482714-76482714

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.218G>T; p.R73L; 14:76439571-76439571

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.133T>C; p.F45L; 14:76439486-76439486

 large_intestine; rectumNSSubstitution - Missense

c.206G>A; p.G69D; 14:76439559-76439559

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1236C>T; p.S412S; 14:76498392-76498392

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1236C>T; p.S412S; 14:76498392-76498392

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1166_1167insG; p.K391fs*22; 14:76498322-76498323

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.865G>A; p.V289M; 14:76491524-76491524

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.60G>A; p.P20P; 14:76439413-76439413

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.786A>G; p.P262P; 14:76482758-76482758

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.461C>T; p.S154F; 14:76462608-76462608

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.449G>A; p.R150Q; 14:76462596-76462596

 skinmalignant_melanomaSubstitution - Missense

c.384G>A; p.K128K; 14:76439737-76439737

 skinmalignant_melanomaSubstitution - coding silent

c.449G>A; p.R150Q; 14:76462596-76462596

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.449G>A; p.R150Q; 14:76462596-76462596

 pancreascarcinomaSubstitution - Missense

c.745C>T; p.R249*; 14:76482717-76482717

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.499G>A; p.G167R; 14:76462646-76462646

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.620A>T; p.K207M; 14:76482121-76482121

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.352G>A; p.A118T; 14:76439705-76439705

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1205C>T; p.T402M; 14:76498361-76498361

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1205C>T; p.T402M; 14:76498361-76498361

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.288C>T; p.N96N; 14:76439641-76439641

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1473G>A; p.P491P; 14:76498902-76498902

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.155A>C; p.H52P; 14:76439508-76439508

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.155A>C; p.H52P; 14:76439508-76439508

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.155A>C; p.H52P; 14:76439508-76439508

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.155A>C; p.H52P; 14:76439508-76439508

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.289G>A; p.A97T; 14:76439642-76439642

 pancreascarcinomaSubstitution - Missense

c.1355C>T; p.P452L; 14:76498784-76498784

 skin; nipplemalignant_melanomaSubstitution - Missense

c.443C>T; p.T148I; 14:76462590-76462590

 skinmalignant_melanomaSubstitution - Missense

c.715G>A; p.A239T; 14:76482687-76482687

 skinmalignant_melanomaSubstitution - Missense

c.1424C>T; p.A475V; 14:76498853-76498853

 livercarcinomaSubstitution - Missense

c.1424C>T; p.A475V; 14:76498853-76498853

 livercarcinomaSubstitution - Missense

c.470C>T; p.A157V; 14:76462617-76462617

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.535C>T; p.R179C; 14:76482036-76482036

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.535C>T; p.R179C; 14:76482036-76482036

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.535C>T; p.R179C; 14:76482036-76482036

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.429C>T; p.N143N; 14:76462576-76462576

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.429C>T; p.N143N; 14:76462576-76462576

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.942C>T; p.L314L; 14:76491601-76491601

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.951G>T; p.L317L; 14:76491610-76491610

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.425C>G; p.T142S; 14:76462572-76462572

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1502A>T; p.*501L; 14:76499881-76499881

 lungcarcinoma; adenocarcinomaNonstop extension

c.960C>T; p.L320L; 14:76491619-76491619

 skinmalignant_melanomaSubstitution - coding silent

c.638T>C; p.V213A; 14:76482610-76482610

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.321G>A; p.G107G; 14:76439674-76439674

 skinmalignant_melanomaSubstitution - coding silent

c.129_130insG; p.F45fs*92; 14:76439482-76439483

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.94C>T; p.H32Y; 14:76439447-76439447

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.129_130insG; p.F45fs*92; 14:76439482-76439483

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.129_130insG; p.F45fs*92; 14:76439482-76439483

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.129_130insG; p.F45fs*92; 14:76439482-76439483

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.129_130insG; p.F45fs*92; 14:76439482-76439483

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.94C>T; p.H32Y; 14:76439447-76439447

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.129_130insG; p.F45fs*92; 14:76439482-76439483

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.129_130insG; p.F45fs*92; 14:76439482-76439483

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.129_130insG; p.F45fs*92; 14:76439482-76439483

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.129_130insG; p.F45fs*92; 14:76439482-76439483

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.129_130insG; p.F45fs*92; 14:76439482-76439483

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.129_130insG; p.F45fs*92; 14:76439482-76439483

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.129_130insG; p.F45fs*92; 14:76439482-76439483

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.129_130insG; p.F45fs*92; 14:76439482-76439483

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.129_130insG; p.F45fs*92; 14:76439482-76439483

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.129_130insG; p.F45fs*92; 14:76439482-76439483

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.129_130insG; p.F45fs*92; 14:76439482-76439483

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.129_130insG; p.F45fs*92; 14:76439482-76439483

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.129_130insG; p.F45fs*92; 14:76439482-76439483

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.38G>A; p.G13D; 14:76439391-76439391

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.521G>A; p.R174H; 14:76482022-76482022

 pancreascarcinomaSubstitution - Missense

c.1144C>T; p.R382C; 14:76498300-76498300

 bone; femurEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.562C>T; p.R188W; 14:76482063-76482063

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1071C>T; p.I357I; 14:76498227-76498227

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.562C>T; p.R188W; 14:76482063-76482063

 livercarcinomaSubstitution - Missense

c.562C>T; p.R188W; 14:76482063-76482063

 livercarcinomaSubstitution - Missense

c.923A>C; p.D308A; 14:76491582-76491582

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.480C>T; p.F160F; 14:76462627-76462627

 skinmalignant_melanomaSubstitution - coding silent

c.849C>T; p.I283I; 14:76491508-76491508

 skinmalignant_melanomaSubstitution - coding silent

c.454C>T; p.R152C; 14:76462601-76462601

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1158C>T; p.P386P; 14:76498314-76498314

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.603T>G; p.I201M; 14:76482104-76482104

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.918C>A; p.I306I; 14:76491577-76491577

 breastcarcinomaSubstitution - coding silent

c.318C>T; p.C106C; 14:76439671-76439671

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.32G>A; p.S11N; 14:76439385-76439385

 skinmalignant_melanomaSubstitution - Missense

c.1304C>A; p.A435D; 14:76498733-76498733

 pancreascarcinomaSubstitution - Missense

c.1113C>T; p.H371H; 14:76498269-76498269

 oesophaguscarcinomaSubstitution - coding silent

c.576G>C; p.E192D; 14:76482077-76482077

 skinmalignant_melanomaSubstitution - Missense

c.162C>T; p.N54N; 14:76439515-76439515

 pancreascarcinomaSubstitution - coding silent

c.162C>T; p.N54N; 14:76439515-76439515

 pancreascarcinomaSubstitution - coding silent

c.1156C>T; p.P386S; 14:76498312-76498312

 breastcarcinomaSubstitution - Missense

c.1028C>T; p.T343M; 14:76491687-76491687

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.113C>T; p.S38L; 14:76439466-76439466

 skinmalignant_melanomaSubstitution - Missense

c.156C>T; p.H52H; 14:76439509-76439509

 pancreascarcinomaSubstitution - coding silent

c.322G>T; p.D108Y; 14:76439675-76439675

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.156C>T; p.H52H; 14:76439509-76439509

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1179G>A; p.L393L; 14:76498335-76498335

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.59C>T; p.P20L; 14:76439412-76439412

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.180C>T; p.P60P; 14:76439533-76439533

 skinmalignant_melanomaSubstitution - coding silent

c.807_808GG>AA; p.G270R; 14:76491466-76491467

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.210C>G; p.T70T; 14:76439563-76439563

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.346G>T; p.G116C; 14:76439699-76439699

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.885T>C; p.Y295Y; 14:76491544-76491544

 thyroidother; neoplasmSubstitution - coding silent

c.336C>A; p.G112G; 14:76439689-76439689

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - coding silent

c.943G>A; p.A315T; 14:76491602-76491602

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.943G>A; p.A315T; 14:76491602-76491602

 large_intestine; colonadenomaSubstitution - Missense

c.943G>A; p.A315T; 14:76491602-76491602

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1345G>A; p.V449M; 14:76498774-76498774

 ovaryother; neoplasmSubstitution - Missense

c.430G>A; p.E144K; 14:76462577-76462577

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.633G>A; p.K211K; 14:76482605-76482605

 skinmalignant_melanomaSubstitution - coding silent

c.1374G>A; p.K458K; 14:76498803-76498803

 skinmalignant_melanomaSubstitution - coding silent

c.1374G>A; p.K458K; 14:76498803-76498803

 skinmalignant_melanomaSubstitution - coding silent

c.771G>C; p.W257C; 14:76482743-76482743

 livercarcinomaSubstitution - Missense

c.563G>A; p.R188Q; 14:76482064-76482064

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; follicular_lymphomaSubstitution - Missense

c.563G>A; p.R188Q; 14:76482064-76482064

 haematopoietic_and_lymphoid_tissue; central_nervous_systemlymphoid_neoplasm; primary_central_nervous_system_lymphomaSubstitution - Missense

c.663G>A; p.P221P; 14:76482635-76482635

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.69G>A; p.P23P; 14:76439422-76439422

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.301C>T; p.R101C; 14:76439654-76439654

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.69G>A; p.P23P; 14:76439422-76439422

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.301C>T; p.R101C; 14:76439654-76439654

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1207G>A; p.A403T; 14:76498363-76498363

 skinmalignant_melanomaSubstitution - Missense

c.73T>A; p.S25T; 14:76439426-76439426

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.455G>A; p.R152H; 14:76462602-76462602

 pancreascarcinomaSubstitution - Missense

c.120C>T; p.D40D; 14:76439473-76439473

 pancreascarcinomaSubstitution - coding silent

c.582C>T; p.S194S; 14:76482083-76482083

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1237G>A; p.V413I; 14:76498393-76498393

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.455G>A; p.R152H; 14:76462602-76462602

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.905C>T; p.A302V; 14:76491564-76491564

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1270C>G; p.L424V; 14:76498426-76498426

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.302G>A; p.R101H; 14:76439655-76439655

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.191G>A; p.G64D; 14:76439544-76439544

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.302G>A; p.R101H; 14:76439655-76439655

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1157C>T; p.P386L; 14:76498313-76498313

 skinmalignant_melanomaSubstitution - Missense

c.126C>T; p.S42S; 14:76439479-76439479

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.811G>A; p.D271N; 14:76491470-76491470

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.308G>T; p.C103F; 14:76439661-76439661

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.134T>C; p.F45S; 14:76439487-76439487

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.839G>T; p.W280L; 14:76491498-76491498

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1295A>G; p.K432R; 14:76498451-76498451

 breastcarcinomaSubstitution - Missense

c.263C>T; p.A88V; 14:76439616-76439616

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.217C>T; p.R73C; 14:76439570-76439570

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.243C>T; p.S81S; 14:76439596-76439596

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1407_1408CC>TT; p.P470S; 14:76498836-76498837

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.742G>A; p.D248N; 14:76482714-76482714

 skinmalignant_melanomaSubstitution - Missense

c.564G>A; p.R188R; 14:76482065-76482065

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.422C>T; p.A141V; 14:76462569-76462569

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.192C>T; p.G64G; 14:76439545-76439545

 central_nervous_system; braingliomaSubstitution - coding silent

c.1199G>A; p.R400Q; 14:76498355-76498355

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.169G>T; p.D57Y; 14:76439522-76439522

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.620A>C; p.K207T; 14:76482121-76482121

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.556A>T; p.K186*; 14:76482057-76482057

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.965G>A; p.R322Q; 14:76491624-76491624

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.529C>T; p.R177*; 14:76482030-76482030

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Nonsense

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