Variant Results

or

Results for "LOC101927822"

Variant Events: 41

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

LOC101927822

5-0077-004

chr8:
134943826-134943826

T

C

intergenic

De novo

-

Yuen2017 G

LOC101927822

2-1508-003

chr8:
135300983-135300987

TAAAG

T

intergenic

De novo

-

Yuen2017 G

LOC101927822

2-1444-003

chr8:
134918579-134918579

G

T

intergenic

De novo

-

Yuen2016 G

LOC101927822

1-0271-003

chr8:
134926752-134926752

C

A

intergenic

De novo

-

Yuen2017 G

LOC101927822

AU2950302

chr8:
135368360-135368360

C

T

intergenic

De novo

-

Yuen2017 G

LOC101927822

3-0185-000

chr8:
134964396-134964396

A

C

intergenic

De novo

-

Yuen2017 G

LOC101927822

AU031204

chr8:
134937012-134937015

CTTT

CTT

intergenic

De novo

-

Yuen2017 G

LOC101927822

1-0512-003

chr8:
135277010-135277010

C

T

intergenic

De novo

-

Yuen2017 G

LOC101927822

AU2333302

chr8:
134956255-134956255

C

A

intergenic

De novo

-

Yuen2017 G

LOC101927822

1-0382-003

chr8:
135280283-135280283

G

A

intergenic

De novo

-

Yuen2017 G

LOC101927822

2-1283-003

chr8:
134968922-134968922

A

G

intergenic

De novo

-

Yuen2017 G

LOC101927822

2-1702-003

chr8:
135436073-135436073

T

C

intergenic

De novo

-

Yuen2017 G

LOC101927822

2-1089-004

chr8:
134924746-134924746

C

T

intergenic

De novo

-

Yuen2017 G

LOC101927822

2-1480-003

chr8:
135312264-135312264

A

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LOC101927822

2-0285-004

chr8:
134964998-134964998

C

T

intergenic

De novo

-

Yuen2017 G

LOC101927822

AU0146301

chr8:
135443278-135443288

AAGGAGGAGGA

AAGGAGGA

intergenic

De novo

-

Yuen2017 G

LOC101927822

AU079104

chr8:
135034582-135034582

G

T

intergenic

De novo

-

Yuen2017 G

LOC101927822

AU3368303

chr8:
135293126-135293126

G

T

intergenic

De novo

-

Yuen2017 G

LOC101927822

AU1521301

chr8:
135331972-135331972

G

A

intergenic

De novo

-

Yuen2017 G

LOC101927822

1-0564-003

chr8:
135475702-135475702

G

A

intergenic

De novo

-

Yuen2017 G

LOC101927822

2-1486-003

chr8:
135262904-135262904

G

A

intergenic

De novo

-

Yuen2017 G

LOC101927822

2-1275-003

chr8:
135373623-135373623

G

A

intergenic

De novo

-

Yuen2017 G

LOC101927822

7-0001-003

chr8:
135245439-135245439

A

T

intergenic

De novo

-

Yuen2017 G

LOC101927822

2-0270-003

chr8:
135408347-135408347

C

T

intergenic

De novo

-

Yuen2017 G

LOC101927822

2-1283-004

chr8:
134968922-134968922

A

G

intergenic

De novo

-

Yuen2017 G

LOC101927822

1-0142-005

chr8:
135195095-135195095

C

CTAA

intergenic

De novo

-

Yuen2017 G

LOC101927822

AU3724302

chr8:
134993224-134993224

G

A

intergenic

De novo

-

Yuen2017 G

LOC101927822

1-0139-005

chr8:
135075971-135075971

T

C

intergenic

De novo

-

Yuen2017 G

LOC101927822

2-0129-005

chr8:
135215965-135215965

G

T

intergenic

De novo

-

Yuen2017 G

LOC101927822

AU4072303

chr8:
135297554-135297567

AAAAAAAAAACAAA

AAAA

intergenic

De novo

-

Yuen2017 G

LOC101927822

AU026412

chr8:
135387419-135387419

C

A

intergenic

De novo

-

Yuen2017 G

LOC101927822

AU2108302

chr8:
135438213-135438213

C

A

intergenic

De novo

-

Yuen2017 G

LOC101927822

AU4199303

chr8:
134981911-134981911

T

A

intergenic

De novo

-

Yuen2017 G

LOC101927822

11003.p1

chr8:
135444616-135444617

CA

TC

intergenic

Maternal

-

Wilfert2021 G

LOC101927822

2-1386-003

chr8:
134997322-134997322

G

A

intergenic

De novo

-

Yuen2016 G

LOC101927822

1-0450-003

chr8:
135107456-135107456

C

G

intergenic

De novo

-

Yuen2017 G

LOC101927822

2-0057-004

chr8:
135031814-135031814

C

G

intergenic

De novo

-

Yuen2017 G

LOC101927822

2-1152-003

chr8:
135224541-135224541

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LOC101927822

3-0140-000

chr8:
135437414-135437414

C

T

intergenic

De novo

-

Yuen2017 G

LOC101927822

1-0162-004

chr8:
135163863-135163863

A

ACGG

intergenic

De novo

-

Yuen2017 G

LOC101927822

1-0991-003

chr8:
135337771-135337771

A

G

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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