Variant Results

or

Results for "ATXN8OS"

Variant Events: 51

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

ATXN8OS

12493.p1

chr13:
70878489-70878489

C

T

intergenic

De novo

-

Turner2016 G

ATXN8OS

5-0137-003

chr13:
71457435-71457435

T

G

intergenic

De novo

-

Yuen2017 G

ATXN8OS

13023.p1

chr13:
70778274-70778274

C

A

intergenic

De novo

-

Turner2016 G

ATXN8OS

1-0324-003

chr13:
71009739-71009739

T

C

intergenic

De novo

-

Yuen2017 G

ATXN8OS

AU4223302

chr13:
70894234-70894234

A

G

intergenic

De novo

-

Yuen2017 G

ATXN8OS

1-0225-003

chr13:
70824981-70824986

TCTTTC

T

intergenic

De novo

-

Yuen2017 G

ATXN8OS

1-0991-003

chr13:
71066027-71066027

G

A

intergenic

De novo

-

Yuen2017 G

ATXN8OS

2-1382-003

chr13:
71421656-71421656

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ATXN8OS

AU2129301

chr13:
71165023-71165023

C

A

intergenic

De novo

-

Yuen2017 G

ATXN8OS

1-0906-003

chr13:
70812618-70812618

G

A

intergenic

De novo

-

Yuen2017 G

ATXN8OS

2-1526-004

chr13:
71491014-71491014

T

A

intergenic

De novo

-

Yuen2017 G

ATXN8OS

AU054103

chr13:
71120168-71120168

G

C

intergenic

De novo

-

Yuen2017 G

ATXN8OS

1-0522-003

chr13:
71402472-71402485

GTATATATATATAT

GTATATATATAT

intergenic

De novo

-

Yuen2017 G

ATXN8OS

AU046706

chr13:
71576711-71576712

AG

AGG

intergenic

De novo

-

Yuen2017 G

ATXN8OS

AU3806304

chr13:
70812413-70812413

C

T

intergenic

De novo

-

Yuen2017 G

ATXN8OS

2-1167-003

chr13:
71526192-71526192

T

G

intergenic

De novo

-

Yuen2017 G

ATXN8OS

7-0044-003

chr13:
71120961-71120961

G

A

intergenic

De novo

-

Yuen2017 G

ATXN8OS

1-0402-004

chr13:
71583154-71583154

C

G

intergenic

De novo

-

Yuen2017 G

ATXN8OS

2-0057-003

chr13:
71220370-71220370

C

T

intergenic

De novo

-

Yuen2017 G

ATXN8OS

AU2248302

chr13:
71064727-71064727

C

T

intergenic

De novo

-

Yuen2017 G

ATXN8OS

1-0255-003

chr13:
71402472-71402485

GTATATATATATAT

GTATATATATAT

intergenic

De novo

-

Yuen2017 G

ATXN8OS

2-1277-004

chr13:
70745738-70745738

C

T

intergenic

De novo

-

Yuen2017 G

ATXN8OS

AU4376301

chr13:
71478943-71478943

T

C

intergenic

De novo

-

Yuen2017 G

ATXN8OS

7-0254-004

chr13:
71417172-71417172

G

A

intergenic

De novo

-

Yuen2017 G

ATXN8OS

AU3840302

chr13:
70875696-70875696

A

C

intergenic

De novo

-

Yuen2017 G

ATXN8OS

AU4452302

chr13:
71429855-71429855

A

C

intergenic

De novo

-

Yuen2017 G

ATXN8OS

1-0210-004

chr13:
71529352-71529352

A

C

intergenic

De novo

-

Yuen2017 G

ATXN8OS

AU3964302

chr13:
71418797-71418797

G

A

intergenic

De novo

-

Yuen2017 G

ATXN8OS

2-1237-003

chr13:
70735564-70735564

C

A

intergenic

De novo

-

Yuen2017 G

ATXN8OS

7-0002-003

chr13:
71093845-71093845

C

T

intergenic

De novo

-

Yuen2017 G

ATXN8OS

AU002903

chr13:
71569161-71569161

G

A

intergenic

De novo

-

Yuen2017 G

ATXN8OS

1-0233-004

chr13:
71305598-71305598

C

T

intergenic

De novo

-

Yuen2017 G

ATXN8OS

1-0300-003

chr13:
70861998-70861998

C

A

intergenic

De novo

-

Yuen2017 G

ATXN8OS

AU4444304

chr13:
71255997-71255997

G

T

intergenic

De novo

-

Yuen2017 G

ATXN8OS

60-2027

chr13:
71205121-71205121

T

C

intergenic

De novo

-

Michaelson2012 G

ATXN8OS

2-1250-003

chr13:
70727564-70727564

G

A

intergenic

De novo

-

Yuen2017 G

ATXN8OS

AU2023302

chr13:
71084722-71084722

A

C

intergenic

De novo

-

Yuen2017 G

ATXN8OS

1-0433-004

chr13:
71256709-71256710

AT

A

intergenic

De novo

-

Yuen2017 G

ATXN8OS

1-0214-003

chr13:
70927426-70927426

T

A

intergenic

De novo

-

Yuen2017 G

ATXN8OS

1-0479-006

chr13:
71133361-71133364

TATA

T

intergenic

De novo

-

Yuen2017 G

ATXN8OS

AU030104

chr13:
71258307-71258307

A

C

intergenic

De novo

-

Yuen2017 G

ATXN8OS

AU3692302

chr13:
71260816-71260816

G

A

intergenic

De novo

-

Yuen2017 G

ATXN8OS

2-0307-004

chr13:
70889572-70889572

C

T

intergenic

De novo

-

Yuen2017 G

ATXN8OS

AU4243302

chr13:
71349481-71349481

C

G

intergenic

De novo

-

Yuen2017 G

ATXN8OS

1-0585-003

chr13:
70739885-70739885

C

A

intergenic

De novo

-

Yuen2017 G

ATXN8OS

1-0507-003

chr13:
71402472-71402485

GTATATATATATAT

GTATATATATAT

intergenic

De novo

-

Yuen2017 G

ATXN8OS

2-1230-003

chr13:
70910136-70910136

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ATXN8OS

2-0033-003

chr13:
71232785-71232785

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ATXN8OS

AU030103

chr13:
71258307-71258307

A

C

intergenic

De novo

-

Yuen2017 G

ATXN8OS

2-1444-003

chr13:
70766010-70766010

A

G

intergenic

De novo

-

Yuen2017 G

ATXN8OS

AU046904

chr13:
71073523-71073523

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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