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

Basic Information

Gene ID

164656

Name

TMPRSS6

Synonymous

transmembrane protease, serine 6;TMPRSS6;transmembrane protease, serine 6

Definition

matriptase-2|membrane-bound mosaic serine proteinase matriptase-2|transmembrane protease serine 6|type II transmembrane serine protease 6

Position

22q12.3

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 0.14.

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.1640C>T; p.P547L; 22:37070975-37070975

 skinmalignant_melanomaSubstitution - Missense

c.92C>T; p.A31V; 22:37103353-37103353

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1570C>T; p.Q524*; 22:37073544-37073544

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.1387C>A; p.L463I; 22:37074691-37074691

 breastcarcinomaSubstitution - Missense

c.777C>A; p.L259L; 22:37089664-37089664

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.297C>A; p.F99L; 22:37098482-37098482

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1270G>T; p.V424L; 22:37075234-37075234

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.880C>T; p.R294C; 22:37086403-37086403

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.1237C>T; p.R413C; 22:37075267-37075267

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1605C>T; p.T535T; 22:37071010-37071010

 skinmalignant_melanomaSubstitution - coding silent

c.1437C>T; p.D479D; 22:37074641-37074641

 skin; armmalignant_melanomaSubstitution - coding silent

c.2073G>A; p.A691A; 22:37069140-37069140

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.729C>T; p.S243S; 22:37089712-37089712

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.67G>A; p.G23R; 22:37103378-37103378

 skinmalignant_melanomaSubstitution - Missense

c.432G>A; p.G144G; 22:37096090-37096090

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.446C>A; p.T149N; 22:37096076-37096076

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.2092C>A; p.P698T; 22:37069121-37069121

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.2259C>T; p.G753G; 22:37066844-37066844

 autonomic_ganglianeuroblastomaSubstitution - coding silent

c.2096G>A; p.G699D; 22:37069117-37069117

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2425G>C; p.V809L; 22:37066091-37066091

 pancreaspancreatic_intraepithelial_neoplasia_(PanIN)Substitution - Missense

c.735C>T; p.C245C; 22:37089706-37089706

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.97C>T; p.P33S; 22:37103348-37103348

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1813_1814insG; p.A605fs*5; 22:37070538-37070539

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.1813_1814insG; p.A605fs*5; 22:37070538-37070539

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1813_1814insG; p.A605fs*5; 22:37070538-37070539

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1813_1814insG; p.A605fs*5; 22:37070538-37070539

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.146G>A; p.G49D; 22:37103299-37103299

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.757A>G; p.K253E; 22:37089684-37089684

 thyroidother; neoplasmSubstitution - Missense

c.757A>G; p.K253E; 22:37089684-37089684

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.757A>G; p.K253E; 22:37089684-37089684

 thyroidother; neoplasmSubstitution - Missense

c.1571A>C; p.Q524P; 22:37073543-37073543

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.757A>G; p.K253E; 22:37089684-37089684

 thyroidother; neoplasmSubstitution - Missense

c.931G>A; p.V311I; 22:37086352-37086352

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.931G>A; p.V311I; 22:37086352-37086352

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.931G>A; p.V311I; 22:37086352-37086352

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.931G>A; p.V311I; 22:37086352-37086352

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1394C>A; p.S465Y; 22:37074684-37074684

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.120T>C; p.C40C; 22:37103325-37103325

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.936G>A; p.W312*; 22:37086347-37086347

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.2205G>A; p.E735E; 22:37066898-37066898

 skinmalignant_melanomaSubstitution - coding silent

c.96G>T; p.E32D; 22:37103349-37103349

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2231G>T; p.R744L; 22:37066872-37066872

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2335G>C; p.G779R; 22:37066181-37066181

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1708C>A; p.L570I; 22:37070644-37070644

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.686_697del12; p.Q229_V232delQGQV; 22:37089744-37089755

 lungcarcinoma; adenocarcinomaDeletion - In frame

c.1490G>T; p.C497F; 22:37073624-37073624

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.73G>A; p.G25R; 22:37103372-37103372

 pancreascarcinomaSubstitution - Missense

c.334C>T; p.R112C; 22:37098445-37098445

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.73G>A; p.G25R; 22:37103372-37103372

 pancreascarcinomaSubstitution - Missense

c.568C>T; p.P190S; 22:37095954-37095954

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1460G>A; p.R487K; 22:37074618-37074618

 skinmalignant_melanomaSubstitution - Missense

c.1692G>A; p.E564E; 22:37070923-37070923

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2207T>C; p.V736A; 22:37066896-37066896

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2207T>C; p.V736A; 22:37066896-37066896

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2207T>C; p.V736A; 22:37066896-37066896

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.347C>A; p.A116D; 22:37098432-37098432

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.47C>T; p.P16L; 22:37103398-37103398

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2207T>C; p.V736A; 22:37066896-37066896

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2207T>C; p.V736A; 22:37066896-37066896

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2207T>C; p.V736A; 22:37066896-37066896

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1169G>A; p.R390K; 22:37084349-37084349

 skinmalignant_melanomaSubstitution - Missense

c.289C>T; p.R97C; 22:37098490-37098490

 skin; head_neckmalignant_melanoma; superficial_spreadingSubstitution - Missense

c.1981G>C; p.E661Q; 22:37069232-37069232

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.456C>T; p.F152F; 22:37096066-37096066

 breastcarcinomaSubstitution - coding silent

c.1280C>A; p.T427K; 22:37075224-37075224

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1439G>T; p.C480F; 22:37074639-37074639

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.673A>G; p.S225G; 22:37089768-37089768

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1940T>G; p.V647G; 22:37069273-37069273

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.2428G>C; p.V810L; 22:37066088-37066088

 bone; femurchondrosarcomaSubstitution - Missense

c.1636A>G; p.K546E; 22:37070979-37070979

 skinmalignant_melanomaSubstitution - Missense

c.44C>T; p.A15V; 22:37103401-37103401

 soft_tissue; blood_vesselangiosarcomaSubstitution - Missense

c.187C>T; p.L63F; 22:37103258-37103258

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.960C>T; p.Y320Y; 22:37086323-37086323

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.960C>T; p.Y320Y; 22:37086323-37086323

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1182T>A; p.D394E; 22:37084336-37084336

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.505G>T; p.E169*; 22:37096017-37096017

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Nonsense

c.2230C>T; p.R744C; 22:37066873-37066873

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.835G>A; p.G279R; 22:37089606-37089606

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1813delG; p.A605fs*8; 22:37070539-37070539

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1063T>C; p.Y355H; 22:37084777-37084777

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.926C>T; p.A309V; 22:37086357-37086357

 breastcarcinomaSubstitution - Missense

c.602G>A; p.G201D; 22:37095920-37095920

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1486C>T; p.Q496*; 22:37073628-37073628

 skin; mucosalmalignant_melanomaSubstitution - Nonsense

c.1981G>A; p.E661K; 22:37069232-37069232

 skinmalignant_melanomaSubstitution - Missense

c.567C>A; p.V189V; 22:37095955-37095955

 skinmalignant_melanomaSubstitution - coding silent

c.565G>A; p.V189I; 22:37095957-37095957

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1588C>T; p.P530S; 22:37071027-37071027

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2232C>T; p.R744R; 22:37066871-37066871

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.597C>T; p.P199P; 22:37095925-37095925

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2232C>T; p.R744R; 22:37066871-37066871

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.475C>T; p.P159S; 22:37096047-37096047

 skinmalignant_melanomaSubstitution - Missense

c.865G>A; p.V289M; 22:37086418-37086418

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.235A>G; p.K79E; 22:37098544-37098544

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1568A>T; p.E523V; 22:37073546-37073546

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.395G>T; p.G132V; 22:37096684-37096684

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.585C>T; p.Y195Y; 22:37095937-37095937

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1482A>G; p.T494T; 22:37073632-37073632

 pancreascarcinomaSubstitution - coding silent

c.1482A>G; p.T494T; 22:37073632-37073632

 pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

c.278G>A; p.R93H; 22:37098501-37098501

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.674G>A; p.S225N; 22:37089767-37089767

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1567G>C; p.E523Q; 22:37073547-37073547

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1534G>T; p.G512W; 22:37073580-37073580

 large_intestine; colonNSSubstitution - Missense

c.1284C>T; p.A428A; 22:37075220-37075220

 central_nervous_system; braingliomaSubstitution - coding silent

c.1387C>T; p.L463F; 22:37074691-37074691

 skinmalignant_melanomaSubstitution - Missense

c.2190G>T; p.Q730H; 22:37066913-37066913

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1502G>A; p.S501N; 22:37073612-37073612

 prostatecarcinomaSubstitution - Missense

c.1961_1962insC; p.L655fs*12; 22:37069251-37069252

 lungcarcinoid-endocrine_tumour; typicalInsertion - Frameshift

c.658+2T>C; p.?; 22:37095549-37095549

 breastcarcinomaUnknown

c.355C>T; p.Q119*; 22:37098424-37098424

 skinmalignant_melanomaSubstitution - Nonsense

c.1092C>T; p.T364T; 22:37084748-37084748

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.38_39CC>TT; p.A13V; 22:37103406-37103407

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.200C>T; p.S67L; 22:37103245-37103245

 skinmalignant_melanomaSubstitution - Missense

c.1254C>T; p.Y418Y; 22:37075250-37075250

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.930C>T; p.V310V; 22:37086353-37086353

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1254C>T; p.Y418Y; 22:37075250-37075250

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.432-1G>A; p.?; 22:37096091-37096091

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.200C>T; p.S67L; 22:37103245-37103245

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1561G>A; p.D521N; 22:37073553-37073553

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1561G>A; p.D521N; 22:37073553-37073553

 skinmalignant_melanomaSubstitution - Missense

c.44_45insC; p.Q17fs*11; 22:37103400-37103401

 breastcarcinomaInsertion - Frameshift

c.1286_1287insGA; p.I430fs*38; 22:37075217-37075218

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma; large_cellInsertion - Frameshift

c.2353C>T; p.L785L; 22:37066163-37066163

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.96G>A; p.E32E; 22:37103349-37103349

 skinmalignant_melanomaSubstitution - coding silent

c.2217C>T; p.Y739Y; 22:37066886-37066886

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.96G>A; p.E32E; 22:37103349-37103349

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.84C>A; p.G28G; 22:37103361-37103361

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1478C>G; p.A493G; 22:37073636-37073636

 central_nervous_system; braingliomaSubstitution - Missense

c.1965C>G; p.L655L; 22:37069248-37069248

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2217C>T; p.Y739Y; 22:37066886-37066886

 thyroidother; neoplasmSubstitution - coding silent

c.2217C>T; p.Y739Y; 22:37066886-37066886

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.2047G>A; p.A683T; 22:37069166-37069166

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.340G>A; p.E114K; 22:37098439-37098439

 skinmalignant_melanomaSubstitution - Missense

c.2420A>G; p.Q807R; 22:37066096-37066096

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.229+7T>G; p.?; 22:37103209-37103209

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.95A>G; p.E32G; 22:37103350-37103350

 thyroidother; neoplasmSubstitution - Missense

c.1727G>A; p.R576H; 22:37070625-37070625

 livercarcinomaSubstitution - Missense

c.1727G>A; p.R576H; 22:37070625-37070625

 livercarcinomaSubstitution - Missense

c.2121G>A; p.W707*; 22:37069092-37069092

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.2366G>A; p.R789Q; 22:37066150-37066150

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1727G>A; p.R576H; 22:37070625-37070625

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1751C>T; p.S584F; 22:37070601-37070601

 bone; humerusEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.977C>T; p.S326F; 22:37086306-37086306

 breastcarcinomaSubstitution - Missense

c.1795C>T; p.R599*; 22:37070557-37070557

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.586G>A; p.E196K; 22:37095936-37095936

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1978C>T; p.H660Y; 22:37069235-37069235

 skinmalignant_melanomaSubstitution - Missense

c.586G>A; p.E196K; 22:37095936-37095936

 skinmalignant_melanomaSubstitution - Missense

c.1795C>T; p.R599*; 22:37070557-37070557

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.586G>A; p.E196K; 22:37095936-37095936

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1062G>A; p.P354P; 22:37084778-37084778

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.1403G>A; p.G468E; 22:37074675-37074675

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.44_45insC; p.P16fs*12; 22:37103400-37103401

 breastcarcinoma; ductal_carcinomaInsertion - Frameshift

c.691C>T; p.Q231*; 22:37089750-37089750

 skinmalignant_melanomaSubstitution - Nonsense

c.86A>G; p.E29G; 22:37103359-37103359

 thyroidother; neoplasmSubstitution - Missense

c.360G>T; p.K120N; 22:37098419-37098419

 skinmalignant_melanomaSubstitution - Missense

c.1572G>C; p.Q524H; 22:37073542-37073542

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2425G>A; p.V809M; 22:37066091-37066091

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.889C>A; p.P297T; 22:37086394-37086394

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1386C>T; p.F462F; 22:37074692-37074692

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2055C>T; p.R685R; 22:37069158-37069158

 skinmalignant_melanomaSubstitution - coding silent

c.412A>G; p.S138G; 22:37096667-37096667

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.2275C>T; p.Q759*; 22:37066828-37066828

 central_nervous_system; braingliomaSubstitution - Nonsense

c.979G>A; p.V327M; 22:37086304-37086304

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.979G>A; p.V327M; 22:37086304-37086304

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; Burkitt_lymphomaSubstitution - Missense

c.98C>T; p.P33L; 22:37103347-37103347

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.98C>T; p.P33L; 22:37103347-37103347

 thyroidother; neoplasmSubstitution - Missense

c.2293C>T; p.P765S; 22:37066223-37066223

 skinmalignant_melanomaSubstitution - Missense

c.1564G>A; p.E522K; 22:37073550-37073550

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1934G>A; p.G645E; 22:37069279-37069279

 skinmalignant_melanomaSubstitution - Missense

c.945C>T; p.G315G; 22:37086338-37086338

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.90A>G; p.E30E; 22:37103355-37103355

 thyroidother; neoplasmSubstitution - coding silent

c.675C>A; p.S225R; 22:37089766-37089766

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.1287_1289GAT>GAGAT; p.G429fs; 22:37075215-37075217

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma; large_cellComplex

c.1287_1289GAT>GAGAT; p.G429fs; 22:37075215-37075217

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma; large_cellComplex

c.45C>T; p.A15A; 22:37103400-37103400

 soft_tissue; blood_vesselangiosarcomaSubstitution - coding silent

c.667C>T; p.R223C; 22:37089774-37089774

 skinmalignant_melanomaSubstitution - Missense

c.2326T>C; p.F776L; 22:37066190-37066190

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.437delG; p.G146fs*19; 22:37096085-37096085

 central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.943G>A; p.G315S; 22:37086340-37086340

 skinmalignant_melanomaSubstitution - Missense

c.221A>T; p.Y74F; 22:37103224-37103224

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1554C>T; p.N518N; 22:37073560-37073560

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.2191G>A; p.D731N; 22:37066912-37066912

 skinmalignant_melanomaSubstitution - Missense

c.97C>G; p.P33A; 22:37103348-37103348

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.100G>T; p.E34*; 22:37103345-37103345

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1467C>T; p.C489C; 22:37074611-37074611

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.154C>T; p.R52C; 22:37103291-37103291

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1467C>T; p.C489C; 22:37074611-37074611

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2125G>T; p.A709S; 22:37069088-37069088

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.34G>A; p.V12M; 22:37103411-37103411

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.34G>A; p.V12M; 22:37103411-37103411

 pancreascarcinomaSubstitution - Missense

c.1563C>T; p.D521D; 22:37073551-37073551

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1563C>T; p.D521D; 22:37073551-37073551

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.812G>C; p.R271P; 22:37089629-37089629

 breastcarcinomaSubstitution - Missense

c.1440C>G; p.C480W; 22:37074638-37074638

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.142delC; p.R48fs*29; 22:37103303-37103303

 skin; neckmalignant_melanomaDeletion - Frameshift

c.346G>A; p.A116T; 22:37098433-37098433

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1233_1234delCT; p.L412fs*63; 22:37075270-37075271

 livercarcinoma; hepatocellular_carcinomaDeletion - Frameshift

c.1233_1234delCT; p.L412fs*63; 22:37075270-37075271

 livercarcinoma; hepatocellular_carcinomaDeletion - Frameshift

c.346G>A; p.A116T; 22:37098433-37098433

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1082C>T; p.S361L; 22:37084758-37084758

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.705G>A; p.L235L; 22:37089736-37089736

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.2409C>T; p.I803I; 22:37066107-37066107

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.970G>A; p.V324M; 22:37086313-37086313

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1775C>A; p.A592D; 22:37070577-37070577

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.290G>A; p.R97H; 22:37098489-37098489

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.668G>A; p.R223H; 22:37089773-37089773

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.1163T>C; p.L388P; 22:37084355-37084355

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1720T>C; p.S574P; 22:37070632-37070632

 thyroidother; neoplasmSubstitution - Missense

c.668G>A; p.R223H; 22:37089773-37089773

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.640G>T; p.A214S; 22:37095569-37095569

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1417G>T; p.A473S; 22:37074661-37074661

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1869-6_1869-2delCCCCA; p.?; 22:37069346-37069350

 breastcarcinomaUnknown

c.1551C>A; p.L517L; 22:37073563-37073563

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.1869-6_1869-2delCCCCA; p.?; 22:37069346-37069350

 breastcarcinomaUnknown

c.1869-6_1869-2delCCCCA; p.?; 22:37069346-37069350

 breastcarcinomaUnknown

c.887A>T; p.E296V; 22:37086396-37086396

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

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