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

Basic Information

Gene ID

11281

Name

POU6F2

Synonymous

POU class 6 homeobox 2;POU6F2;POU class 6 homeobox 2

Definition

POU domain, class 6, transcription factor 2|Wilms tumor suppressor locus|retina-derived POU domain factor 1|retina-derived POU-domain factor-1

Position

7p14.1

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.383C>T; p.A128V; 7:39207492-39207492

 skinmalignant_melanomaSubstitution - Missense

c.55C>T; p.L19L; 7:39085896-39085896

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1892A>C; p.H631P; 7:39464502-39464502

 breastcarcinomaSubstitution - Missense

c.383C>T; p.A128V; 7:39207492-39207492

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.94G>A; p.E32K; 7:39085935-39085935

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1800C>T; p.I600I; 7:39464410-39464410

 skinmalignant_melanomaSubstitution - coding silent

c.364C>G; p.L122V; 7:39207473-39207473

 breastcarcinomaSubstitution - Missense

c.586C>A; p.Q196K; 7:39339716-39339716

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.701A>G; p.Q234R; 7:39339831-39339831

 livercarcinomaSubstitution - Missense

c.339C>A; p.G113G; 7:39207448-39207448

 livercarcinomaSubstitution - coding silent

c.314C>T; p.A105V; 7:39207423-39207423

 skinmalignant_melanomaSubstitution - Missense

c.339C>A; p.G113G; 7:39207448-39207448

 livercarcinomaSubstitution - coding silent

c.701A>G; p.Q234R; 7:39339831-39339831

 livercarcinomaSubstitution - Missense

c.936G>A; p.M312I; 7:39406650-39406650

 breastcarcinomaSubstitution - Missense

c.143C>T; p.A48V; 7:39085984-39085984

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2072C>T; p.S691F; 7:39464682-39464682

 skin; extremitymalignant_melanomaSubstitution - Missense

c.419C>T; p.T140I; 7:39207528-39207528

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2072C>T; p.S691F; 7:39464682-39464682

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.65G>A; p.R22Q; 7:39085906-39085906

 skinmalignant_melanomaSubstitution - Missense

c.1520A>T; p.Q507L; 7:39460664-39460664

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.866C>T; p.T289M; 7:39339996-39339996

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.189C>T; p.F63F; 7:39086030-39086030

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2057C>A; p.S686Y; 7:39464667-39464667

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.852G>T; p.L284L; 7:39339982-39339982

 oesophaguscarcinomaSubstitution - coding silent

c.1231C>T; p.Q411*; 7:39433281-39433281

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.370C>T; p.P124S; 7:39207479-39207479

 skinmalignant_melanomaSubstitution - Missense

c.605A>G; p.N202S; 7:39339735-39339735

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1520A>G; p.Q507R; 7:39460664-39460664

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.406G>A; p.G136R; 7:39207515-39207515

 skinmalignant_melanomaSubstitution - Missense

c.727C>T; p.Q243*; 7:39339857-39339857

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.320C>T; p.A107V; 7:39207429-39207429

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.179G>A; p.S60N; 7:39086020-39086020

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.694T>C; p.S232P; 7:39339824-39339824

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1871C>T; p.A624V; 7:39464481-39464481

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.13C>T; p.L5F; 7:39006862-39006862

 skinmalignant_melanomaSubstitution - Missense

c.539A>C; p.Q180P; 7:39339669-39339669

 skinmalignant_melanomaSubstitution - Missense

c.1641G>C; p.L547L; 7:39464251-39464251

 breastcarcinomaSubstitution - coding silent

c.2019G>A; p.E673E; 7:39464629-39464629

 skinmalignant_melanomaSubstitution - coding silent

c.1645G>A; p.A549T; 7:39464255-39464255

 skinmalignant_melanomaSubstitution - Missense

c.538C>T; p.Q180*; 7:39339668-39339668

 skinmalignant_melanomaSubstitution - Nonsense

c.538C>T; p.Q180*; 7:39339668-39339668

 skinmalignant_melanomaSubstitution - Nonsense

c.190+1G>T; p.?; 7:39086032-39086032

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.1822C>T; p.R608C; 7:39464432-39464432

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1822C>T; p.R608C; 7:39464432-39464432

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.134C>A; p.P45H; 7:39085975-39085975

 livercarcinomaSubstitution - Missense

c.134C>A; p.P45H; 7:39085975-39085975

 livercarcinomaSubstitution - Missense

c.1288C>T; p.L430L; 7:39451587-39451587

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.415C>A; p.L139I; 7:39207524-39207524

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.689C>T; p.P230L; 7:39339819-39339819

 skinmalignant_melanomaSubstitution - Missense

c.1206G>T; p.T402T; 7:39433256-39433256

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.282+7A>G; p.?; 7:39204333-39204333

 livercarcinomaUnknown

c.282+7A>G; p.?; 7:39204333-39204333

 livercarcinomaUnknown

c.330G>T; p.M110I; 7:39207439-39207439

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1427T>G; p.V476G; 7:39460571-39460571

 skinmalignant_melanomaSubstitution - Missense

c.338G>A; p.G113D; 7:39207447-39207447

 pleurapulmonary_blastomaSubstitution - Missense

c.224G>T; p.G75V; 7:39204268-39204268

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1894C>T; p.P632S; 7:39464504-39464504

 skinmalignant_melanomaSubstitution - Missense

c.721C>T; p.Q241*; 7:39339851-39339851

 skinmalignant_melanomaSubstitution - Nonsense

c.448C>T; p.Q150*; 7:39207557-39207557

 skinmalignant_melanomaSubstitution - Nonsense

c.1961G>C; p.W654S; 7:39464571-39464571

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.448C>T; p.Q150*; 7:39207557-39207557

 skinmalignant_melanomaSubstitution - Nonsense

c.1060G>C; p.G354R; 7:39433110-39433110

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1810C>T; p.P604S; 7:39464420-39464420

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1506G>A; p.Q502Q; 7:39460650-39460650

 skin; trunkmalignant_melanoma; nodularSubstitution - coding silent

c.801G>C; p.Q267H; 7:39339931-39339931

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.79G>A; p.A27T; 7:39085920-39085920

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.760C>T; p.H254Y; 7:39339890-39339890

 skinmalignant_melanomaSubstitution - Missense

c.1074A>C; p.Q358H; 7:39433124-39433124

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.691G>A; p.A231T; 7:39339821-39339821

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.832C>T; p.Q278*; 7:39339962-39339962

 NSNSSubstitution - Nonsense

c.436C>T; p.L146F; 7:39207545-39207545

 skinmalignant_melanomaSubstitution - Missense

c.2073C>T; p.S691S; 7:39464683-39464683

 skinmalignant_melanomaSubstitution - coding silent

c.1403-1G>A; p.?; 7:39460546-39460546

 urinary_tract; bladdercarcinomaUnknown

c.1509T>G; p.T503T; 7:39460653-39460653

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1738C>T; p.R580W; 7:39464348-39464348

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.238C>T; p.H80Y; 7:39204282-39204282

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1943G>A; p.R648Q; 7:39464553-39464553

 skinmalignant_melanomaSubstitution - Missense

c.1608G>A; p.Q536Q; 7:39464218-39464218

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.420A>G; p.T140T; 7:39207529-39207529

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1732C>T; p.L578F; 7:39464342-39464342

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1030A>G; p.I344V; 7:39433080-39433080

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1740G>A; p.R580R; 7:39464350-39464350

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1134C>T; p.N378N; 7:39433184-39433184

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.804G>A; p.Q268Q; 7:39339934-39339934

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1352C>T; p.S451F; 7:39451651-39451651

 skinmalignant_melanomaSubstitution - Missense

c.1352C>T; p.S451F; 7:39451651-39451651

 skinmalignant_melanomaSubstitution - Missense

c.1767T>C; p.H589H; 7:39464377-39464377

 breastcarcinomaSubstitution - coding silent

c.286C>T; p.L96F; 7:39207395-39207395

 skinmalignant_melanomaSubstitution - Missense

c.1403-4C>T; p.?; 7:39464178-39464178

 central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.268C>T; p.P90S; 7:39204312-39204312

 skinmalignant_melanomaSubstitution - Missense

c.1510C>T; p.Q504*; 7:39460654-39460654

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.268C>T; p.P90S; 7:39204312-39204312

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1475A>T; p.K492I; 7:39460619-39460619

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.1059A>G; p.P353P; 7:39433109-39433109

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1059A>G; p.P353P; 7:39433109-39433109

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1185G>A; p.V395V; 7:39433235-39433235

 skinmalignant_melanomaSubstitution - coding silent

c.437T>C; p.L146P; 7:39207546-39207546

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.635C>T; p.P212L; 7:39339765-39339765

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.262C>T; p.P88S; 7:39204306-39204306

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.93T>C; p.G31G; 7:39085934-39085934

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.447C>T; p.I149I; 7:39207556-39207556

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.234C>A; p.D78E; 7:39204278-39204278

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1901G>T; p.G634V; 7:39464511-39464511

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.982C>T; p.L328F; 7:39406696-39406696

 skinmalignant_melanomaSubstitution - Missense

c.364C>T; p.L122F; 7:39207473-39207473

 skinmalignant_melanomaSubstitution - Missense

c.325G>A; p.V109M; 7:39207434-39207434

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1571+2T>A; p.?; 7:39460717-39460717

 lungcarcinoma; adenocarcinomaUnknown

c.325G>A; p.V109M; 7:39207434-39207434

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.343C>A; p.P115T; 7:39207452-39207452

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.121G>A; p.E41K; 7:39085962-39085962

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.971C>A; p.A324D; 7:39406685-39406685

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.355C>T; p.Q119*; 7:39207464-39207464

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1322A>G; p.Q441R; 7:39451621-39451621

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.441C>A; p.T147T; 7:39207550-39207550

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.797C>T; p.T266I; 7:39339927-39339927

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1867A>C; p.N623H; 7:39464477-39464477

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1443G>C; p.L481L; 7:39460587-39460587

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.463G>A; p.A155T; 7:39207572-39207572

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.971C>T; p.A324V; 7:39406685-39406685

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.293C>T; p.T98M; 7:39207402-39207402

 NSNSSubstitution - Missense

c.293C>T; p.T98M; 7:39207402-39207402

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1272C>A; p.A424A; 7:39451571-39451571

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.814C>T; p.P272S; 7:39339944-39339944

 skinmalignant_melanomaSubstitution - Missense

c.215C>T; p.S72L; 7:39204259-39204259

 skinmalignant_melanomaSubstitution - Missense

c.586C>T; p.Q196*; 7:39339716-39339716

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Nonsense

c.807C>A; p.S269R; 7:39339937-39339937

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.407G>A; p.G136E; 7:39207516-39207516

 skinmalignant_melanomaSubstitution - Missense

c.1051C>T; p.P351S; 7:39433101-39433101

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1058C>T; p.P353L; 7:39433108-39433108

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1480C>T; p.R494W; 7:39460624-39460624

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1248C>T; p.S416S; 7:39451547-39451547

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1480C>T; p.R494W; 7:39460624-39460624

 pancreascarcinomaSubstitution - Missense

c.1120C>T; p.Q374*; 7:39433170-39433170

 pituitary; craniopharyngeal_ductcraniopharyngioma; adamantinomatousSubstitution - Nonsense

c.1520A>C; p.Q507P; 7:39460664-39460664

 livercarcinomaSubstitution - Missense

c.335G>A; p.G112E; 7:39207444-39207444

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1137C>T; p.A379A; 7:39433187-39433187

 breastcarcinomaSubstitution - coding silent

c.1520A>C; p.Q507P; 7:39460664-39460664

 central_nervous_system; braingliomaSubstitution - Missense

c.857C>T; p.S286L; 7:39339987-39339987

 skinmalignant_melanomaSubstitution - Missense

c.978C>T; p.S326S; 7:39406692-39406692

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.965G>C; p.G322A; 7:39406679-39406679

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1205C>T; p.T402M; 7:39433255-39433255

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1547C>T; p.A516V; 7:39460691-39460691

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1042C>T; p.P348S; 7:39433092-39433092

 skinmalignant_melanomaSubstitution - Missense

c.596C>T; p.P199L; 7:39339726-39339726

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.596C>T; p.P199L; 7:39339726-39339726

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.596C>T; p.P199L; 7:39339726-39339726

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.596C>T; p.P199L; 7:39339726-39339726

 NSNSSubstitution - Missense

c.1481G>A; p.R494Q; 7:39460625-39460625

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.390G>A; p.Q130Q; 7:39207499-39207499

 skinmalignant_melanomaSubstitution - coding silent

c.282+3C>T; p.?; 7:39204329-39204329

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.367A>T; p.I123F; 7:39207476-39207476

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.347C>T; p.A116V; 7:39207456-39207456

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.632C>T; p.A211V; 7:39339762-39339762

 skinmalignant_melanomaSubstitution - Missense

c.333G>A; p.P111P; 7:39207442-39207442

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - coding silent

c.632C>T; p.A211V; 7:39339762-39339762

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.817C>A; p.P273T; 7:39339947-39339947

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.764C>T; p.S255F; 7:39339894-39339894

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2059C>G; p.L687V; 7:39464669-39464669

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.791C>T; p.S264F; 7:39339921-39339921

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.867G>A; p.T289T; 7:39339997-39339997

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1906G>A; p.E636K; 7:39464516-39464516

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.867G>A; p.T289T; 7:39339997-39339997

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.793C>A; p.P265T; 7:39339923-39339923

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1483C>T; p.R495C; 7:39460627-39460627

 breastcarcinomaSubstitution - Missense

c.1442T>G; p.L481R; 7:39460586-39460586

 livercarcinomaSubstitution - Missense

c.1442T>G; p.L481R; 7:39460586-39460586

 livercarcinomaSubstitution - Missense

c.1792G>A; p.E598K; 7:39464402-39464402

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.274G>A; p.G92R; 7:39204318-39204318

 skinmalignant_melanomaSubstitution - Missense

c.1115delC; p.Q374fs*22; 7:39433165-39433165

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1693G>A; p.D565N; 7:39464303-39464303

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.885G>A; p.Q295Q; 7:39340015-39340015

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1886A>G; p.N629S; 7:39464496-39464496

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.850C>T; p.L284L; 7:39339980-39339980

 skinmalignant_melanomaSubstitution - coding silent

c.850C>T; p.L284L; 7:39339980-39339980

 skinmalignant_melanomaSubstitution - coding silent

c.138G>A; p.L46L; 7:39085979-39085979

 breastcarcinomaSubstitution - coding silent

c.958G>C; p.A320P; 7:39406672-39406672

 livercarcinomaSubstitution - Missense

c.1815C>T; p.S605S; 7:39464425-39464425

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1815C>T; p.S605S; 7:39464425-39464425

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1026G>T; p.Q342H; 7:39406740-39406740

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1300C>T; p.H434Y; 7:39451599-39451599

 skinmalignant_melanomaSubstitution - Missense

c.1863C>T; p.I621I; 7:39464473-39464473

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.690C>T; p.P230P; 7:39339820-39339820

 breastcarcinomaSubstitution - coding silent

c.690C>T; p.P230P; 7:39339820-39339820

 livercarcinomaSubstitution - coding silent

c.942C>T; p.S314S; 7:39406656-39406656

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.942C>T; p.S314S; 7:39406656-39406656

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1362C>T; p.S454S; 7:39451661-39451661

 bone; pelvisEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.558_561delCCAG; p.Q187fs*114; 7:39339688-39339691

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.1484G>A; p.R495H; 7:39460628-39460628

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1033G>T; p.G345W; 7:39433083-39433083

 skinmalignant_melanomaSubstitution - Missense

c.1144C>G; p.Q382E; 7:39433194-39433194

 prostatecarcinomaSubstitution - Missense

c.1027-7C>T; p.?; 7:39433070-39433070

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.1843A>G; p.T615A; 7:39464453-39464453

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1027-7C>T; p.?; 7:39433070-39433070

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.2043G>A; p.E681E; 7:39464653-39464653

 skinmalignant_melanomaSubstitution - coding silent

c.559_561delCAG; p.Q187delQ; 7:39339689-39339691

 lungcarcinoma; adenocarcinomaDeletion - In frame

c.559_561delCAG; p.Q187delQ; 7:39339689-39339691

 skinmalignant_melanomaDeletion - In frame

c.559_561delCAG; p.Q187delQ; 7:39339689-39339691

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.855T>C; p.P285P; 7:39339985-39339985

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.559_561delCAG; p.Q187delQ; 7:39339689-39339691

 endometriumcarcinoma; endometrioid_carcinomaDeletion - In frame

c.559_561delCAG; p.Q187delQ; 7:39339689-39339691

 endometriumcarcinoma; endometrioid_carcinomaDeletion - In frame

c.559_561delCAG; p.Q187delQ; 7:39339689-39339691

 skinmalignant_melanomaDeletion - In frame

c.406G>T; p.G136*; 7:39207515-39207515

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1197G>A; p.Q399Q; 7:39433247-39433247

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1197G>A; p.Q399Q; 7:39433247-39433247

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.623C>A; p.A208D; 7:39339753-39339753

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.341C>A; p.P114H; 7:39207450-39207450

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.885+10C>T; p.?; 7:39340025-39340025

 livercarcinomaUnknown

c.885+10C>T; p.?; 7:39340025-39340025

 livercarcinomaUnknown

c.1167G>T; p.G389G; 7:39433217-39433217

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.829A>C; p.S277R; 7:39339959-39339959

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1945G>A; p.E649K; 7:39464555-39464555

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1560G>A; p.S520S; 7:39460704-39460704

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1032C>T; p.I344I; 7:39433082-39433082

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1932G>A; p.L644L; 7:39464542-39464542

 skinmalignant_melanomaSubstitution - coding silent

c.1932G>A; p.L644L; 7:39464542-39464542

 NSmalignant_melanomaSubstitution - coding silent

c.1932G>A; p.L644L; 7:39464542-39464542

 NSmalignant_melanomaSubstitution - coding silent

c.1032C>T; p.I344I; 7:39433082-39433082

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.384G>A; p.A128A; 7:39207493-39207493

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.625C>T; p.P209S; 7:39339755-39339755

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.755A>G; p.Q252R; 7:39339885-39339885

 skinmalignant_melanomaSubstitution - Missense

c.1224C>T; p.P408P; 7:39433274-39433274

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.339delC; p.P115fs*17; 7:39207448-39207448

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.339delC; p.P115fs*17; 7:39207448-39207448

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.518C>T; p.S173L; 7:39339648-39339648

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.528C>A; p.N176K; 7:39339658-39339658

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.431C>A; p.A144E; 7:39207540-39207540

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1879G>C; p.E627Q; 7:39464489-39464489

 parathyroidcarcinomaSubstitution - Missense

c.1712C>T; p.A571V; 7:39464322-39464322

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1712C>T; p.A571V; 7:39464322-39464322

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1989G>A; p.K663K; 7:39464599-39464599

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.7G>A; p.A3T; 7:39006856-39006856

 pancreascarcinomaSubstitution - Missense

c.1672C>T; p.P558S; 7:39464282-39464282

 skinmalignant_melanomaSubstitution - Missense

c.1176C>T; p.I392I; 7:39433226-39433226

 skinmalignant_melanomaSubstitution - coding silent

c.1176C>T; p.I392I; 7:39433226-39433226

 skinmalignant_melanomaSubstitution - coding silent

c.1522G>T; p.A508S; 7:39460666-39460666

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.705G>A; p.P235P; 7:39339835-39339835

 livercarcinomaSubstitution - coding silent

c.1522G>T; p.A508S; 7:39460666-39460666

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1522G>T; p.A508S; 7:39460666-39460666

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1522G>T; p.A508S; 7:39460666-39460666

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.705G>A; p.P235P; 7:39339835-39339835

 livercarcinomaSubstitution - coding silent

c.1522G>T; p.A508S; 7:39460666-39460666

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1522G>T; p.A508S; 7:39460666-39460666

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1522G>T; p.A508S; 7:39460666-39460666

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1522G>T; p.A508S; 7:39460666-39460666

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1522G>T; p.A508S; 7:39460666-39460666

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.144G>A; p.A48A; 7:39085985-39085985

 pancreascarcinoid-endocrine_tumourSubstitution - coding silent

c.1032C>A; p.I344I; 7:39433082-39433082

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1548G>A; p.A516A; 7:39460692-39460692

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.191G>C; p.G64A; 7:39204235-39204235

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.467C>T; p.A156V; 7:39207576-39207576

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1572-9delC; p.?; 7:39464173-39464173

 skinmalignant_melanomaUnknown

c.1750G>A; p.E584K; 7:39464360-39464360

 breastcarcinomaSubstitution - Missense

c.1153G>A; p.A385T; 7:39433203-39433203

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1153G>A; p.A385T; 7:39433203-39433203

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.770C>T; p.S257F; 7:39339900-39339900

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.224G>A; p.G75D; 7:39204268-39204268

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

')