Variant Results

or

Results for "LOC646813"

Variant Events: 64

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

LOC646813

1-0232-004

chr11:
51208525-51208525

C

A

intergenic

De novo

-

Yuen2017 G

LOC646813

2-1194-003

chr11:
50704114-50704114

A

G

intergenic

De novo

-

Yuen2017 G

LOC646813

1-0467-005

chr11:
51313646-51313646

G

A

intergenic

De novo

-

Yuen2017 G

LOC646813

1-0051-005

chr11:
51243951-51243951

T

TA

intergenic

De novo

-

Yuen2017 G

LOC646813

1-0051-004

chr11:
51243951-51243951

T

TA

intergenic

De novo

-

Yuen2017 G

LOC646813

2-1352-003

chr11:
50592879-50592879

A

G

intergenic

De novo

-

Yuen2017 G

LOC646813

7-0168-003

chr11:
51330065-51330065

C

T

intergenic

De novo

-

Yuen2017 G

LOC646813

AU4056302

chr11:
50389175-50389175

T

A

intergenic

De novo

-

Yuen2017 G

LOC646813

1-0141-003

chr11:
51243951-51243951

T

TA

intergenic

De novo

-

Yuen2017 G

LOC646813

2-1391-004

chr11:
51243951-51243951

T

TA

intergenic

De novo

-

Yuen2017 G

LOC646813

AU0146301

chr11:
50666387-50666387

T

G

intergenic

De novo

-

Yuen2017 G

LOC646813

AU043804

chr11:
50732114-50732114

C

T

intergenic

De novo

-

Yuen2017 G

LOC646813

AU043804

chr11:
50772492-50772492

T

C

intergenic

De novo

-

Yuen2017 G

LOC646813

AU061003

chr11:
50426944-50426946

AGG

AG

intergenic

De novo

-

Yuen2017 G

LOC646813

7-0273-003

chr11:
51170613-51170613

G

C

intergenic

De novo

-

Yuen2017 G

LOC646813

1-0683-004

chr11:
51243951-51243951

T

TA

intergenic

De novo

-

Yuen2017 G

LOC646813

7-0024-003

chr11:
51291652-51291652

A

AG

intergenic

De novo

-

Yuen2017 G

LOC646813

1-0007-003

chr11:
51326246-51326246

G

A

intergenic

De novo

-

Yuen2017 G

LOC646813

2-1729-003

chr11:
51408103-51408103

G

A

intergenic

De novo

-

Yuen2017 G

LOC646813

AU0780301

chr11:
50602658-50602658

T

C

intergenic

De novo

-

Yuen2017 G

LOC646813

AU3371303

chr11:
51327033-51327033

G

A

intergenic

De novo

-

Yuen2017 G

LOC646813

1-0368-004

chr11:
51366894-51366894

A

ACG

intergenic

De novo

-

Yuen2017 G

LOC646813

7-0143-003

chr11:
50710090-50710090

G

C

intergenic

De novo

-

Yuen2017 G

LOC646813

AU038703

chr11:
50743767-50743767

A

G

intergenic

De novo

-

Yuen2017 G

LOC646813

2-1134-003

chr11:
50410727-50410727

C

T

intergenic

De novo

-

Yuen2017 G

LOC646813

1-0336-004

chr11:
50448275-50448275

C

T

intergenic

De novo

-

Yuen2017 G

LOC646813

AU028305

chr11:
51270943-51270943

A

T

intergenic

De novo

-

Yuen2017 G

LOC646813

1-0006-003

chr11:
51243951-51243951

T

TA

intergenic

De novo

-

Yuen2017 G

LOC646813

AU4089302

chr11:
50638449-50638449

C

T

intergenic

De novo

-

Yuen2017 G

LOC646813

1-0169-003

chr11:
50472642-50472642

C

A

intergenic

De novo

-

Yuen2017 G

LOC646813

1-0218-003

chr11:
51227696-51227696

C

G

intergenic

De novo

-

Yuen2017 G

LOC646813

AU4344301

chr11:
50515863-50515863

G

A

intergenic

De novo

-

Yuen2017 G

LOC646813

AU4129303

chr11:
51365972-51365972

A

T

intergenic

De novo

-

Yuen2017 G

LOC646813

AU4015301

chr11:
50672824-50672824

G

C

intergenic

De novo

-

Yuen2017 G

LOC646813

AU4239301

chr11:
50650017-50650017

G

C

intergenic

De novo

-

Yuen2017 G

LOC646813

AU4013301

chr11:
50546225-50546225

C

T

intergenic

De novo

-

Yuen2017 G

LOC646813

2-1296-003

chr11:
50646429-50646429

G

T

intergenic

De novo

-

Yuen2017 G

LOC646813

1-0162-004

chr11:
51313643-51313643

T

C

intergenic

De novo

-

Yuen2017 G

LOC646813

1-0112-004

chr11:
51314560-51314560

T

TGG

intergenic

De novo

-

Yuen2017 G

LOC646813

A15

chr11:
51245118-51245118

G

A

intergenic

De novo

-

Wu2018 G

LOC646813

2-1306-003

chr11:
51243951-51243951

T

TA

intergenic

De novo

-

Yuen2017 G

LOC646813

1-0332-003

chr11:
51291652-51291652

A

AG

intergenic

De novo

-

Yuen2017 G

LOC646813

2-1261-004

chr11:
51243937-51243937

A

T

intergenic

De novo

-

Yuen2017 G

LOC646813

2-1402-003

chr11:
50656311-50656311

A

C

intergenic

De novo

-

Yuen2017 G

LOC646813

1-0382-003

chr11:
51343703-51343703

G

GAGT

intergenic

De novo

-

Yuen2017 G

LOC646813

1-0497-003

chr11:
50667036-50667036

G

A

intergenic

De novo

-

Yuen2017 G

LOC646813

1-0067-004

chr11:
51296992-51296992

C

T

intergenic

De novo

-

Yuen2017 G

LOC646813

1-0010-003

chr11:
50456585-50456585

C

T

intergenic

De novo

-

Yuen2017 G

LOC646813

1-0756-003

chr11:
51243951-51243951

T

TA

intergenic

De novo

-

Yuen2017 G

LOC646813

2-0145-003

chr11:
51243900-51243900

G

C

intergenic

De novo

-

Yuen2017 G

LOC646813

2-1632-003

chr11:
50663634-50663634

G

C

intergenic

De novo

-

Yuen2017 G

LOC646813

5-0004-003

chr11:
51294314-51294314

T

C

intergenic

De novo

-

Yuen2017 G

LOC646813

7-0077-003

chr11:
51285236-51285236

G

A

intergenic

De novo

-

Yuen2017 G

LOC646813

AU4032306

chr11:
51282748-51282748

C

T

intergenic

De novo

-

Yuen2017 G

LOC646813

2-1416-004

chr11:
51295355-51295355

G

T

intergenic

De novo

-

Yuen2017 G

LOC646813

AU075210

chr11:
50728970-50728970

C

T

intergenic

De novo

-

Yuen2017 G

LOC646813

2-1416-004

chr11:
51244637-51244637

A

G

intergenic

De novo

-

Yuen2017 G

LOC646813

2-1456-003

chr11:
51243951-51243951

T

TA

intergenic

De novo

-

Yuen2017 G

LOC646813

AU031203

chr11:
51219620-51219620

T

A

intergenic

De novo

-

Yuen2017 G

LOC646813

AU3787303

chr11:
50687174-50687174

C

T

intergenic

De novo

-

Yuen2017 G

LOC646813

1-0756-005

chr11:
51243956-51243956

A

AGG

intergenic

De novo

-

Yuen2017 G

LOC646813

1-0559-005

chr11:
51367027-51367027

C

CG

intergenic

De novo

-

Yuen2017 G

LOC646813

2-0214-003

chr11:
51291652-51291652

A

AG

intergenic

De novo

-

Yuen2017 G

LOC646813

2-1210-003

chr11:
51291652-51291652

A

AG

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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