Variant Results

or

Results for "TCERG1L"

Variant Events: 49

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

TCERG1L

1-0303-003

chr10:
132891737-132891737

C

T

intronic

De novo

-

Yuen2017 G

TCERG1L

2-1371-003

chr10:
133532707-133532707

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TCERG1L

2-0013-003

chr10:
133209227-133209227

G

A

intergenic

De novo

-

Yuen2017 G

TCERG1L

AU3506303

chr10:
133285002-133285010

ACATGTATG

A

intergenic

De novo

-

Yuen2017 G

TCERG1L

2-1406-003

chr10:
133542306-133542319

GACACACACACACA

GACACACACACA

intergenic

De novo

-

Yuen2017 G

TCERG1L

3-0458-000B

chr10:
133244178-133244178

C

T

intergenic

De novo

-

Yuen2017 G

TCERG1L

2-0285-004

chr10:
133145522-133145522

C

CTTTCT

intergenic

De novo

-

Yuen2017 G

TCERG1L

JASD_Fam0021

chr10:
133109867-133109867

C

T

exonic

De novo

nonsynonymous SNV

NM_174937

c.G32A

p.R11Q

8.017

-

Takata2018 E

TCERG1L

1-0290-003

chr10:
133310938-133310938

T

TG

intergenic

De novo

-

Yuen2017 G

TCERG1L

1-0007-003

chr10:
132974707-132974707

G

A

intronic

De novo

-

Yuen2017 G

TCERG1L

AU3849303

chr10:
133317424-133317424

G

A

intergenic

De novo

-

Yuen2017 G

TCERG1L

1-0007-003

chr10:
133518784-133518814

TTCTCTCTCTCTCTCTGTCTCTCTCTCTCTC

TTCTCTCTCTCTCTGTCTCTCTCTCTCTC

intergenic

De novo

-

Yuen2017 G

TCERG1L

13143.p1

chr10:
132890047-132890047

C

T

downstream

De novo

-

Wilfert2021 G

TCERG1L

AU057405

chr10:
132917761-132917761

A

G

intronic

De novo

-

Yuen2017 G

TCERG1L

13730.p1

chr10:
132915185-132915185

G

A

exonic

De novo

synonymous SNV

NM_174937

c.C1272T

p.C424C

-

8.0E-4

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

TCERG1L

2-1330-003

chr10:
133315246-133315246

C

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TCERG1L

13570.p1

chr10:
132965064-132965064

T

C

exonic

De novo, Mosaic Mat.

nonsynonymous SNV

NM_174937

c.A941G

p.D314G

8.341

-

Dou2017 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

TCERG1L

1-0978-003

chr10:
133367328-133367328

C

T

intergenic

De novo

-

Yuen2017 G

TCERG1L

1-0006-004

chr10:
133310910-133310910

G

GTTGTAT

intergenic

De novo

-

Yuen2017 G

TCERG1L

SSC08103

chr10:
132965064-132965064

T

C

exonic

De novo

nonsynonymous SNV

NM_174937

c.A941G

p.D314G

8.341

-

Fu2022 E
Lim2017 E

TCERG1L

AU3874301

chr10:
132974866-132974871

CAGAGA

CAGA

intronic

De novo

-

Yuen2017 G

TCERG1L

5-0106-003

chr10:
133133607-133133607

G

T

intergenic

De novo

-

Yuen2017 G

TCERG1L

2-1339-003

chr10:
133112865-133112865

C

T

intergenic

De novo

-

Yuen2017 G

TCERG1L

AU4024303

chr10:
133330730-133330730

G

A

intergenic

De novo

-

Yuen2017 G

TCERG1L

1-0539-003

chr10:
133310940-133310940

G

GTGT

intergenic

De novo

-

Yuen2017 G

TCERG1L

3-0458-000A

chr10:
133244178-133244178

C

T

intergenic

De novo

-

Yuen2017 G

TCERG1L

1-0563-004

chr10:
133522779-133522779

T

A

intergenic

De novo

-

Yuen2017 G

TCERG1L

AU2123302

chr10:
133106179-133106179

C

A

intronic

De novo

-

Yuen2017 G

TCERG1L

EGAN00001101080

chr10:
133058648-133058654

CGGCGGT

C

exonic

De novo

nonframeshift deletion

NM_174937

c.724_729del

p.242_243del

-

Fu2022 E
Satterstrom2020 E

TCERG1L

2-1146-003

chr10:
133540750-133540750

G

A

intergenic

De novo

-

Yuen2017 G

TCERG1L

2-1250-003

chr10:
133327185-133327185

A

T

intergenic

De novo

-

Yuen2017 G

TCERG1L

AU3052303

chr10:
133218312-133218312

A

G

intergenic

De novo

-

Yuen2017 G

TCERG1L

AU038204

chr10:
133086123-133086123

G

A

intronic

De novo

-

Yuen2017 G

TCERG1L

SP0042511

chr10:
133109654-133109654

G

A

exonic

De novo

nonsynonymous SNV

NM_174937

c.C245T

p.A82V

0.016

-

Fu2022 E

TCERG1L

2-0289-004

chr10:
133217583-133217583

G

A

intergenic

De novo

-

Yuen2017 G

TCERG1L

1-0458-003

chr10:
133522840-133522840

C

T

intergenic

De novo

-

Yuen2017 G

TCERG1L

2-1322-003

chr10:
133072165-133072165

G

A

intronic

De novo

-

Yuen2017 G

TCERG1L

AU4372309

chr10:
133024563-133024563

C

G

intronic

De novo

-

Yuen2017 G

TCERG1L

1-0142-005

chr10:
133522836-133522836

C

CAATCACACTCA

intergenic

De novo

-

Yuen2017 G

TCERG1L

2-1180-003

chr10:
132965082-132965082

C

T

exonic

De novo

nonsynonymous SNV

NM_174937

c.G923A

p.R308Q

2.517

2.493E-5

Yuen2016 G
Yuen2017 G

TCERG1L

2-1246-003

chr10:
133448168-133448168

G

GTGATGGATGCACAGGTGTATGGAGGCGCAGA

intergenic

De novo

-

Yuen2017 G

TCERG1L

2-1629-003

chr10:
133324666-133324666

A

G

intergenic

De novo

-

Yuen2017 G

TCERG1L

2-1451-004

chr10:
133071685-133071685

G

A

intronic

De novo

-

Yuen2017 G

TCERG1L

3-0458-000

chr10:
133244178-133244178

C

T

intergenic

De novo

-

Yuen2016 G

TCERG1L

2-1644-003

chr10:
133522840-133522840

C

T

intergenic

De novo

-

Yuen2017 G

TCERG1L

1-0158-012

chr10:
133310645-133310645

T

TGC

intergenic

De novo

-

Yuen2017 G

TCERG1L

3-0307-000

chr10:
133469928-133469928

T

C

intergenic

De novo

-

Yuen2017 G

TCERG1L

iHART1606

chr10:
132944925-132944925

T

G

splicing

Paternal

splicing

19.11

-

Ruzzo2019 G

TCERG1L

AU072505

chr10:
133439139-133439139

C

T

intergenic

De novo

-

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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