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

Basic Information

Gene ID

4849

Name

CNOT3

Synonymous

CCR4-NOT transcription complex, subunit 3;CNOT3;CCR4-NOT transcription complex, subunit 3

Definition

CCR4-NOT transcription complex subunit 3|CCR4-associated factor 3|NOT3 (negative regulator of transcription 3, yeast) homolog|leukocyte receptor cluster member 2

Position

19q13.4

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.2001G>A; p.S667S; 19:54152963-54152963

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1781C>T; p.P594L; 19:54152503-54152503

 skinmalignant_melanomaSubstitution - Missense

c.2038G>T; p.G680C; 19:54153715-54153715

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.754G>A; p.E252K; 19:54145960-54145960

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2028C>T; p.Y676Y; 19:54152990-54152990

 skinmalignant_melanomaSubstitution - coding silent

c.326G>T; p.G109V; 19:54144073-54144073

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.807C>G; p.P269P; 19:54146013-54146013

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.853G>C; p.D285H; 19:54146616-54146616

 breastcarcinomaSubstitution - Missense

c.960G>A; p.P320P; 19:54148213-54148213

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1808G>A; p.G603D; 19:54152530-54152530

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.124G>A; p.E42K; 19:54143472-54143472

 breastcarcinomaSubstitution - Missense

c.1970C>T; p.S657L; 19:54152932-54152932

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2004C>T; p.T668T; 19:54152966-54152966

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.460C>T; p.R154C; 19:54144309-54144309

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.984G>A; p.P328P; 19:54148237-54148237

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1608C>T; p.A536A; 19:54152228-54152228

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.371T>C; p.V124A; 19:54144118-54144118

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.910G>A; p.G304S; 19:54148163-54148163

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.563G>A; p.R188H; 19:54145677-54145677

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1720A>T; p.S574C; 19:54152442-54152442

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1703G>A; p.R568Q; 19:54152323-54152323

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.387G>C; p.T129T; 19:54144134-54144134

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.387G>C; p.T129T; 19:54144134-54144134

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.2050C>T; p.Q684*; 19:54153727-54153727

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1641G>A; p.A547A; 19:54152261-54152261

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.206A>G; p.N69S; 19:54143697-54143697

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1660T>C; p.S554P; 19:54152280-54152280

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.529C>T; p.R177C; 19:54145643-54145643

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.529C>T; p.R177C; 19:54145643-54145643

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.208G>A; p.E70K; 19:54143699-54143699

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.208G>A; p.E70K; 19:54143699-54143699

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.208G>A; p.E70K; 19:54143699-54143699

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.208G>A; p.E70K; 19:54143699-54143699

 prostatecarcinomaSubstitution - Missense

c.208G>A; p.E70K; 19:54143699-54143699

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.208G>A; p.E70K; 19:54143699-54143699

 prostatecarcinomaSubstitution - Missense

c.151G>A; p.E51K; 19:54143499-54143499

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.728C>T; p.P243L; 19:54145934-54145934

 skinmalignant_melanomaSubstitution - Missense

c.1645C>T; p.R549W; 19:54152265-54152265

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.657C>T; p.F219F; 19:54145771-54145771

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.602G>A; p.R201H; 19:54145716-54145716

 skinmalignant_melanomaSubstitution - Missense

c.1033G>A; p.A345T; 19:54148286-54148286

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.645G>T; p.Q215H; 19:54145759-54145759

 breastcarcinomaSubstitution - Missense

c.1033G>A; p.A345T; 19:54148286-54148286

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.5C>T; p.A2V; 19:54142983-54142983

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1606-2A>T; p.?; 19:54152224-54152224

 lungcarcinoma; small_cell_carcinomaUnknown

c.178G>A; p.D60N; 19:54143669-54143669

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.420C>A; p.D140E; 19:54144269-54144269

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1140C>A; p.P380P; 19:54148393-54148393

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1774A>G; p.N592D; 19:54152496-54152496

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.812C>T; p.P271L; 19:54146018-54146018

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.615C>T; p.D205D; 19:54145729-54145729

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.942T>G; p.P314P; 19:54148195-54148195

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1566C>G; p.L522L; 19:54149719-54149719

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.168+1G>C; p.?; 19:54143517-54143517

 stomachcarcinoma; adenocarcinomaUnknown

c.1942T>C; p.Y648H; 19:54152904-54152904

 pancreascarcinoid-endocrine_tumourSubstitution - Missense

c.1010C>T; p.T337I; 19:54148263-54148263

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.691C>T; p.L231F; 19:54145805-54145805

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1094C>T; p.S365L; 19:54148347-54148347

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.691C>T; p.L231F; 19:54145805-54145805

 livercarcinomaSubstitution - Missense

c.652G>A; p.D218N; 19:54145766-54145766

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1057C>A; p.L353M; 19:54148310-54148310

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1207A>C; p.S403R; 19:54148460-54148460

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1461A>T; p.S487S; 19:54149614-54149614

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1461A>T; p.S487S; 19:54149614-54149614

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.142C>T; p.L48L; 19:54143490-54143490

 skinmalignant_melanomaSubstitution - coding silent

c.1189G>A; p.G397R; 19:54148442-54148442

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1693C>T; p.L565L; 19:54152313-54152313

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2052G>C; p.Q684H; 19:54153729-54153729

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1370_1371CC>TT; p.P457L; 19:54148707-54148708

 skinmalignant_melanomaSubstitution - Missense

c.1914C>A; p.L638L; 19:54152876-54152876

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.754G>T; p.E252*; 19:54145960-54145960

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.2204G>A; p.R735Q; 19:54155349-54155349

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1811C>A; p.P604H; 19:54152533-54152533

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1904G>A; p.R635Q; 19:54152626-54152626

 breastcarcinomaSubstitution - Missense

c.1640C>T; p.A547V; 19:54152260-54152260

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.936G>T; p.Q312H; 19:54148189-54148189

 livercarcinomaSubstitution - Missense

c.936G>T; p.Q312H; 19:54148189-54148189

 livercarcinomaSubstitution - Missense

c.1752G>A; p.P584P; 19:54152474-54152474

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2249G>A; p.R750Q; 19:54155394-54155394

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2249G>A; p.R750Q; 19:54155394-54155394

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1634delC; p.M546fs*20; 19:54152254-54152254

 breastcarcinomaDeletion - Frameshift

c.1897C>T; p.R633C; 19:54152619-54152619

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1073G>T; p.S358I; 19:54148326-54148326

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1699G>A; p.E567K; 19:54152319-54152319

 breastcarcinomaSubstitution - Missense

c.169C>T; p.R57W; 19:54143660-54143660

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.802T>C; p.S268P; 19:54146008-54146008

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.346C>T; p.P116S; 19:54144093-54144093

 skinmalignant_melanomaSubstitution - Missense

c.169C>T; p.R57W; 19:54143660-54143660

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.169C>T; p.R57W; 19:54143660-54143660

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.37C>T; p.R13C; 19:54143130-54143130

 skinmalignant_melanomaSubstitution - Missense

c.724_725insC; p.P244fs*9; 19:54145930-54145931

 breastcarcinomaInsertion - Frameshift

c.724_725insC; p.P244fs*9; 19:54145930-54145931

 NSmalignant_melanomaInsertion - Frameshift

c.724_725insC; p.P244fs*9; 19:54145930-54145931

 breastcarcinomaInsertion - Frameshift

c.257C>T; p.T86M; 19:54143748-54143748

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.724_725insC; p.P244fs*9; 19:54145930-54145931

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.1935G>A; p.T645T; 19:54152897-54152897

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.170G>A; p.R57Q; 19:54143661-54143661

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.170G>A; p.R57Q; 19:54143661-54143661

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.170G>A; p.R57Q; 19:54143661-54143661

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.57C>T; p.S19S; 19:54143150-54143150

 skinmalignant_melanomaSubstitution - coding silent

c.1430_1431delCA; p.P477fs*37; 19:54149583-54149584

 pancreaspancreatic_intraepithelial_neoplasia_(PanIN)Deletion - Frameshift

c.589G>A; p.V197I; 19:54145703-54145703

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.27T>C; p.G9G; 19:54143120-54143120

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.685C>T; p.L229L; 19:54145799-54145799

 skinmalignant_melanomaSubstitution - coding silent

c.923T>C; p.V308A; 19:54148176-54148176

 livercarcinomaSubstitution - Missense

c.13_14insG; p.K6fs*5; 19:54142991-54142992

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaInsertion - Frameshift

c.721A>C; p.T241P; 19:54145927-54145927

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; chronic_myeloid_leukaemiaSubstitution - Missense

c.1843C>T; p.Q615*; 19:54152565-54152565

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Nonsense

c.1843C>T; p.Q615*; 19:54152565-54152565

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Nonsense

c.927C>A; p.H309Q; 19:54148180-54148180

 livercarcinomaSubstitution - Missense

c.1368delC; p.P458fs*45; 19:54148705-54148705

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1695G>C; p.L565L; 19:54152315-54152315

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.692T>A; p.L231H; 19:54145806-54145806

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1694T>C; p.L565P; 19:54152314-54152314

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2010A>C; p.T670T; 19:54152972-54152972

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.175A>G; p.R59G; 19:54143666-54143666

 skinmalignant_melanomaSubstitution - Missense

c.494G>A; p.R165Q; 19:54145608-54145608

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.494G>A; p.R165Q; 19:54145608-54145608

 bone; femurchondrosarcomaSubstitution - Missense

c.494G>A; p.R165Q; 19:54145608-54145608

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1195G>A; p.G399R; 19:54148448-54148448

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1971_1972GG>AT; p.D658Y; 19:54152933-54152934

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.859A>G; p.K287E; 19:54146622-54146622

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1421C>T; p.A474V; 19:54149574-54149574

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.801C>T; p.S267S; 19:54146007-54146007

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2000C>T; p.S667L; 19:54152962-54152962

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.14G>A; p.R5H; 19:54142992-54142992

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.790A>C; p.T264P; 19:54145996-54145996

 thyroidother; neoplasmSubstitution - Missense

c.343G>T; p.D115Y; 19:54144090-54144090

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1852G>T; p.E618*; 19:54152574-54152574

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.569T>A; p.L190Q; 19:54145683-54145683

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.749A>G; p.E250G; 19:54145955-54145955

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.477_477delC; p.D159fs*11; 19:54144326-54144326

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaDeletion - Frameshift

c.1934C>T; p.T645M; 19:54152896-54152896

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.360G>A; p.E120E; 19:54144107-54144107

 breastcarcinomaSubstitution - coding silent

c.2242G>A; p.E748K; 19:54155387-54155387

 soft_tissue; striated_musclerhabdomyosarcomaSubstitution - Missense

c.1447G>A; p.V483M; 19:54149600-54149600

 livercarcinomaSubstitution - Missense

c.1447G>A; p.V483M; 19:54149600-54149600

 livercarcinomaSubstitution - Missense

c.1447G>A; p.V483M; 19:54149600-54149600

 livercarcinomaSubstitution - Missense

c.1711A>G; p.I571V; 19:54152433-54152433

 breastcarcinomaSubstitution - Missense

c.104C>A; p.A35E; 19:54143452-54143452

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1207A>G; p.S403G; 19:54148460-54148460

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.58G>A; p.E20K; 19:54143151-54143151

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.58G>A; p.E20K; 19:54143151-54143151

 prostatecarcinomaSubstitution - Missense

c.34G>C; p.D12H; 19:54143127-54143127

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.58G>A; p.E20K; 19:54143151-54143151

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.906A>C; p.K302N; 19:54148159-54148159

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2127C>G; p.H709Q; 19:54153804-54153804

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.58G>A; p.E20K; 19:54143151-54143151

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.58G>A; p.E20K; 19:54143151-54143151

 prostatecarcinomaSubstitution - Missense

c.1782G>A; p.P594P; 19:54152504-54152504

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.58G>A; p.E20K; 19:54143151-54143151

 prostatecarcinomaSubstitution - Missense

c.58G>A; p.E20K; 19:54143151-54143151

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.808delA; p.I270fs*65; 19:54146014-54146014

 lungcarcinoma; non_small_cell_carcinomaDeletion - Frameshift

c.241C>T; p.R81C; 19:54143732-54143732

 skinmalignant_melanomaSubstitution - Missense

c.1032C>T; p.P344P; 19:54148285-54148285

 skinmalignant_melanomaSubstitution - coding silent

c.1372C>T; p.P458S; 19:54148709-54148709

 skinmalignant_melanomaSubstitution - Missense

c.2208G>T; p.K736N; 19:54155353-54155353

 breastcarcinomaSubstitution - Missense

c.1029C>T; p.V343V; 19:54148282-54148282

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.992C>A; p.A331D; 19:54148245-54148245

 thyroidother; neoplasmSubstitution - Missense

c.468G>A; p.K156K; 19:54144317-54144317

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.39C>T; p.R13R; 19:54143132-54143132

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.2051A>G; p.Q684R; 19:54153728-54153728

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2051A>G; p.Q684R; 19:54153728-54153728

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1116C>A; p.A372A; 19:54148369-54148369

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.616G>A; p.D206N; 19:54145730-54145730

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.266A>G; p.E89G; 19:54144013-54144013

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.484-9C>T; p.?; 19:54145589-54145589

 breastcarcinomaUnknown

c.1702C>T; p.R568*; 19:54152322-54152322

 prostatecarcinomaSubstitution - Nonsense

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