Variant Results

or

Results for "TPK1"

Variant Events: 107

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported

TPK1

AU076704

chr7:
144357293-144357293

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TPK1

2-0063-005

chr7:
144879167-144879167

G

A

intergenic

De novo

-

Yuen2017 G

TPK1

AU1933302

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

TPK1

1-0272-003

chr7:
144669032-144669032

T

G

intergenic

De novo

-

Yuen2017 G

TPK1

2-1230-003

chr7:
144828250-144828250

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TPK1

AU4234302

chr7:
144255945-144255945

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TPK1

1-0412-003

chr7:
144978159-144978159

A

ATTAT

intergenic

De novo

-

Yuen2017 G

TPK1

7-0151-003

chr7:
145163748-145163748

C

T

intergenic

De novo

-

Yuen2017 G

TPK1

AU066404

chr7:
145778943-145778945

ACC

AC

intergenic

De novo

-

Yuen2017 G

TPK1

AU2988302

chr7:
145082022-145082022

A

C

intergenic

De novo

-

Yuen2017 G

TPK1

2-1366-004

chr7:
144489756-144489756

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TPK1

AU024607

chr7:
144823607-144823607

C

T

intergenic

De novo

-

Yuen2017 G

TPK1

1-0352-005

chr7:
145230055-145230055

C

T

intergenic

De novo

-

Yuen2017 G

TPK1

7-0167-003

chr7:
145333828-145333828

T

A

intergenic

De novo

-

Yuen2017 G

TPK1

1-0150-004

chr7:
144475331-144475331

C

CCAG

intronic

De novo

-

Trost2022 G
Yuen2017 G

TPK1

5-0030-003

chr7:
144653280-144653280

G

GTTAACTCAGTATGT

intergenic

De novo

-

Yuen2017 G

TPK1

AU3263301

chr7:
145278068-145278068

A

G

intergenic

De novo

-

Yuen2017 G

TPK1

1-0271-003

chr7:
145459923-145459923

A

G

intergenic

De novo

-

Yuen2017 G

TPK1

AU3175302

chr7:
145228271-145228271

A

G

intergenic

De novo

-

Yuen2017 G

TPK1

1-0004-003

chr7:
145487475-145487475

C

G

intergenic

De novo

-

Yuen2017 G

TPK1

13063.p1

chr7:
144150703-144150703

C

T

exonic

De novo

nonsynonymous SNV

NM_001042482
NM_022445

c.G520A
c.G667A

p.G174R
p.G223R

29.7

5.769E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

TPK1

2-1501-003

chr7:
144390372-144390372

T

C

intronic

De novo

-

Yuen2017 G

TPK1

AU4067303

chr7:
145333460-145333460

T

C

intergenic

De novo

-

Yuen2017 G

TPK1

1-0674-004

chr7:
144241081-144241081

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TPK1

2-0149-004

chr7:
144536293-144536293

C

T

intergenic

De novo

-

Yuen2017 G

TPK1

2-1632-003

chr7:
144328245-144328245

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TPK1

1-0099-003

chr7:
145056833-145056833

G

A

intergenic

De novo

-

Yuen2017 G

TPK1

1-0935-003

chr7:
144828209-144828209

G

C

intergenic

De novo

-

Yuen2017 G

TPK1

AU2988303

chr7:
145082022-145082022

A

C

intergenic

De novo

-

Yuen2017 G

TPK1

1-0701-003

chr7:
145331127-145331127

T

A

intergenic

De novo

-

Yuen2017 G

TPK1

AU4029301

chr7:
145550620-145550620

A

G

intergenic

De novo

-

Yuen2017 G

TPK1

1-0715-003

chr7:
144643572-144643572

T

G

intergenic

De novo

-

Yuen2017 G

TPK1

2-0214-003

chr7:
145756074-145756074

A

T

intergenic

De novo

-

Yuen2017 G

TPK1

2-1085-003

chr7:
144311167-144311167

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TPK1

5-0148-003

chr7:
144695020-144695020

T

C

intergenic

De novo

-

Yuen2017 G

TPK1

2-1222-003

chr7:
144783532-144783532

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TPK1

1-0022-004

chr7:
144678562-144678562

T

C

intergenic

De novo

-

Yuen2017 G

TPK1

5-0025-004

chr7:
144757068-144757068

G

GGGA

intergenic

De novo

-

Yuen2017 G

TPK1

1-0197-003

chr7:
145727816-145727816

C

T

intergenic

De novo

-

Yuen2017 G

TPK1

1-0352-003

chr7:
145230055-145230055

C

T

intergenic

De novo

-

Yuen2016 G

TPK1

1-0197-003

chr7:
145431297-145431297

G

C

intergenic

De novo

-

Yuen2017 G

TPK1

7-0140-003

chr7:
144927275-144927275

C

G

intergenic

De novo

-

Yuen2017 G

TPK1

B222403

chr7:
144380037-144380037

G

A

exonic

De novo

synonymous SNV

NM_001042482
NM_022445

c.C150T
c.C150T

p.N50N
p.N50N

12.21

-

Fu2022 E

TPK1

SSC06654

chr7:
144150703-144150703

C

T

exonic

De novo

nonsynonymous SNV

NM_001042482
NM_022445

c.G520A
c.G667A

p.G174R
p.G223R

29.7

5.769E-5

Fu2022 E
Trost2022 G

TPK1

2-1251-003

chr7:
144569587-144569587

T

G

intergenic

De novo

-

Yuen2017 G

TPK1

1-0469-005

chr7:
145425773-145425773

T

TATCACC

intergenic

De novo

-

Yuen2017 G

TPK1

1-0485-003

chr7:
144767241-144767241

C

G

intergenic

De novo

-

Yuen2017 G

TPK1

AU2787301

chr7:
145492781-145492781

T

G

intergenic

De novo

-

Yuen2017 G

TPK1

5-0054-003

chr7:
145113935-145113935

A

C

intergenic

De novo

-

Yuen2017 G

TPK1

AU3809302

chr7:
144862806-144862806

T

A

intergenic

De novo

-

Yuen2017 G

TPK1

1-0252-003

chr7:
144413174-144413174

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TPK1

3-0111-000

chr7:
144913921-144913921

G

A

intergenic

De novo

-

Yuen2016 G

TPK1

1-0277-003

chr7:
144935905-144935905

C

A

intergenic

De novo

-

Yuen2017 G

TPK1

AU4239301

chr7:
145249746-145249746

C

G

intergenic

De novo

-

Yuen2017 G

TPK1

1-0417-003

chr7:
145666875-145666875

A

G

intergenic

De novo

-

Yuen2017 G

TPK1

AU4033305

chr7:
144532551-144532551

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TPK1

1-0539-003

chr7:
145806055-145806055

A

T

intergenic

De novo

-

Yuen2017 G

TPK1

AU4327303

chr7:
145624483-145624483

C

T

intergenic

De novo

-

Yuen2017 G

TPK1

MSSNG00060-003

chr7:
144320329-144320329

T

G

exonic

De novo

nonsynonymous SNV

NM_001042482
NM_022445

c.A284C
c.A284C

p.D95A
p.D95A

21.4

-

Trost2022 G
Zhou2022 GE

TPK1

3-0209-000

chr7:
145112491-145112491

A

G

intergenic

De novo

-

Yuen2017 G

TPK1

2-1518-003

chr7:
145018389-145018389

T

C

intergenic

De novo

-

Yuen2017 G

TPK1

2-1518-003

chr7:
144320333-144320333

G

T

exonic

De novo

nonsynonymous SNV

NM_001042482
NM_022445

c.C280A
c.C280A

p.P94T
p.P94T

15.51

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

TPK1

A31

chr7:
144270684-144270684

A

G

intronic

De novo

-

Wu2018 G

TPK1

2-1292-004

chr7:
144893137-144893137

T

TG

intergenic

De novo

-

Yuen2017 G

TPK1

1-0022-003

chr7:
144678562-144678562

T

C

intergenic

De novo

-

Yuen2016 G

TPK1

1-0150-003

chr7:
145800186-145800186

C

T

intergenic

De novo

-

Yuen2017 G

TPK1

1-0595-005

chr7:
144188784-144188784

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TPK1

2-0149-005

chr7:
145531571-145531571

A

G

intergenic

De novo

-

Yuen2017 G

TPK1

2-1085-004

chr7:
144311167-144311167

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TPK1

AU2221301

chr7:
144202221-144202221

C

A

intronic

De novo

-

Trost2022 G

TPK1

SP0075477

chr7:
144243970-144243970

A

G

intronic

De novo

-

Trost2022 G

TPK1

7-0411-003

chr7:
144153625-144153625

A

T

intronic

De novo

-

Trost2022 G

TPK1

1-0067-004

chr7:
144438508-144438508

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TPK1

7-0279-003

chr7:
144177765-144177765

T

G

intronic

De novo

-

Trost2022 G

TPK1

5-0091-003

chr7:
144149576-144149578

CTG

C

UTR3

De novo

-

Trost2022 G

TPK1

AU1308303

chr7:
145112230-145112230

G

A

intergenic

De novo

-

Yuen2017 G

TPK1

MSSNG00066-003

chr7:
144329287-144329287

C

G

intronic

De novo

-

Trost2022 G

TPK1

MSSNG00081-003

chr7:
144355478-144355478

A

G

intronic

De novo

-

Trost2022 G

TPK1

2-0063-003

chr7:
144879167-144879167

G

A

intergenic

De novo

-

Yuen2017 G

TPK1

MSSNG00202-003

chr7:
144289020-144289020

T

G

intronic

De novo

-

Trost2022 G

TPK1

4-0073-003

chr7:
144305792-144305793

AA

TT

intronic

De novo

-

Trost2022 G

TPK1

7-0328-003

chr7:
144285251-144285251

T

C

intronic

De novo

-

Trost2022 G

TPK1

2-1765-003

chr7:
144289014-144289014

A

G

intronic

De novo

-

Trost2022 G

TPK1

MSSNG00388-003

chr7:
144246258-144246258

C

A

intronic

De novo

-

Trost2022 G

TPK1

2-0202-003

chr7:
144280262-144280262

C

T

intronic

De novo

-

Trost2022 G

TPK1

5-5065-003

chr7:
144472228-144472228

T

C

intronic

De novo

-

Trost2022 G

TPK1

2-1546-003

chr7:
144497822-144497823

CA

C

intronic

De novo

-

Trost2022 G

TPK1

REACH000141

chr7:
144444894-144444894

C

A

intronic

De novo

-

Trost2022 G

TPK1

MT_67.3

chr7:
144453290-144453290

C

T

intronic

De novo

-

Trost2022 G

TPK1

5-0119-003

chr7:
144417027-144417027

A

T

intronic

De novo

-

Trost2022 G

TPK1

2-1068-003

chr7:
144441538-144441538

G

A

intronic

De novo

-

Trost2022 G

TPK1

AU2168301

chr7:
144356280-144356280

G

A

intronic

De novo

-

Trost2022 G

TPK1

AU2207301

chr7:
144382730-144382730

A

C

intronic

De novo

-

Trost2022 G

TPK1

1-0464-003

chr7:
144505486-144505486

T

C

intronic

De novo

-

Trost2022 G

TPK1

AU039304

chr7:
144663652-144663652

A

G

intergenic

De novo

-

Yuen2017 G

TPK1

AU3765302

chr7:
144249530-144249530

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TPK1

AU2089301

chr7:
144251682-144251682

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TPK1

AU2072302

chr7:
144305474-144305474

T

C

intronic

De novo

-

Yuen2017 G

TPK1

AU3861301

chr7:
145467107-145467107

T

C

intergenic

De novo

-

Yuen2017 G

TPK1

1-0232-004

chr7:
144515463-144515463

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TPK1

1-0051-005

chr7:
145484747-145484747

C

T

intergenic

De novo

-

Yuen2017 G

TPK1

2-1343-003

chr7:
145771985-145771985

C

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TPK1

2-1411-003

chr7:
144680051-144680051

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TPK1

1-1004-003

chr7:
145397693-145397693

A

G

intergenic

De novo

-

Yuen2017 G

TPK1

2-1241-003

chr7:
145365147-145365147

G

A

intergenic

De novo

-

Yuen2017 G

TPK1

1-0141-003

chr7:
145315891-145315891

A

T

intergenic

De novo

-

Yuen2017 G

TPK1

AU3847302

chr7:
144365514-144365514

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notes	View
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