Variant Results

or

Results for "LOC100506474"

Variant Events: 54

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

LOC100506474

1-0481-003

chr2:
13329311-13329311

G

GA

intergenic

De novo

-

Yuen2017 G

LOC100506474

2-1502-003

chr2:
14353795-14353795

G

A

intergenic

De novo

-

Yuen2017 G

LOC100506474

AU3728301

chr2:
13777764-13777764

T

C

intergenic

De novo

-

Yuen2017 G

LOC100506474

2-1719-003

chr2:
13872836-13872836

A

G

intergenic

De novo

-

Yuen2017 G

LOC100506474

2-0144-003

chr2:
14250823-14250823

C

T

intergenic

De novo

-

Yuen2017 G

LOC100506474

AU3891304

chr2:
14276597-14276597

C

T

intergenic

De novo

-

Yuen2017 G

LOC100506474

1-0493-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

LOC100506474

5-0117-003

chr2:
13875730-13875730

G

C

intergenic

De novo

-

Yuen2017 G

LOC100506474

AU0452303

chr2:
13969198-13969198

A

C

intergenic

De novo

-

Yuen2017 G

LOC100506474

AU076808

chr2:
13138168-13138168

G

A

ncRNA_intronic

De novo

-

Yuen2017 G

LOC100506474

1-0763-003

chr2:
13456927-13456927

C

T

intergenic

De novo

-

Yuen2017 G

LOC100506474

AU012804

chr2:
14112543-14112543

G

A

intergenic

De novo

-

Yuen2017 G

LOC100506474

AU009903

chr2:
13380570-13380570

A

T

intergenic

De novo

-

Yuen2017 G

LOC100506474

2-1085-004

chr2:
13985221-13985221

T

C

intergenic

De novo

-

Yuen2017 G

LOC100506474

AU3811305

chr2:
13276159-13276159

G

A

intergenic

De novo

-

Yuen2017 G

LOC100506474

AU4012302

chr2:
14186505-14186505

C

T

intergenic

De novo

-

Yuen2017 G

LOC100506474

A14

chr2:
14227836-14227836

T

C

intergenic

De novo

-

Wu2018 G

LOC100506474

1-0483-003

chr2:
13219240-13219240

T

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LOC100506474

AU4153301

chr2:
14177393-14177406

TATATATGATATAT

TATATAT

intergenic

De novo

-

Yuen2017 G

LOC100506474

AU4070301

chr2:
14353471-14353471

C

A

intergenic

De novo

-

Yuen2017 G

LOC100506474

2-0272-004

chr2:
13734439-13734439

C

T

intergenic

De novo

-

Yuen2017 G

LOC100506474

AU3632301

chr2:
13351844-13351844

C

T

intergenic

De novo

-

Yuen2017 G

LOC100506474

1-0555-003

chr2:
14179764-14179764

C

T

intergenic

De novo

-

Yuen2017 G

LOC100506474

2-1429-003

chr2:
14298147-14298147

C

G

intergenic

De novo

-

Yuen2017 G

LOC100506474

AU1725306

chr2:
13623228-13623228

C

T

intergenic

De novo

-

Yuen2017 G

LOC100506474

AU1725306

chr2:
14207592-14207594

TAA

TA

intergenic

De novo

-

Yuen2017 G

LOC100506474

AU4356302

chr2:
13546254-13546254

A

G

intergenic

De novo

-

Yuen2017 G

LOC100506474

AU4164301

chr2:
13306877-13306877

G

T

intergenic

De novo

-

Yuen2017 G

LOC100506474

2-1617-003

chr2:
13969290-13969290

G

T

intergenic

De novo

-

Yuen2017 G

LOC100506474

1-0473-003

chr2:
14227322-14227322

G

T

intergenic

De novo

-

Yuen2017 G

LOC100506474

2-1451-004

chr2:
13360933-13360933

A

C

intergenic

De novo

-

Yuen2017 G

LOC100506474

1-0404-003

chr2:
13506771-13506775

GAAAA

GAAA

intergenic

De novo

-

Yuen2017 G

LOC100506474

1-0209-003

chr2:
13853860-13853860

T

C

intergenic

De novo

-

Yuen2017 G

LOC100506474

2-1186-003

chr2:
14018940-14018940

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LOC100506474

AU4069302

chr2:
13558354-13558356

CTG

C

intergenic

De novo

-

Yuen2017 G

LOC100506474

AU066818

chr2:
13457179-13457179

A

G

intergenic

De novo

-

Yuen2017 G

LOC100506474

1-0006-004

chr2:
14083355-14083355

G

A

intergenic

De novo

-

Yuen2017 G

LOC100506474

AU3811301

chr2:
13307329-13307329

C

T

intergenic

De novo

-

Yuen2017 G

LOC100506474

1-0531-003

chr2:
13754176-13754176

C

T

intergenic

De novo

-

Yuen2017 G

LOC100506474

1-0755-003

chr2:
13860634-13860634

A

G

intergenic

De novo

-

Yuen2017 G

LOC100506474

5-0148-003

Complex Event; expand row to view variants

De novo

-

Yuen2017 G
Yuen2017 G

LOC100506474

7-0242-003

chr2:
13533533-13533533

A

G

intergenic

De novo

-

Yuen2017 G

LOC100506474

2-0214-003

chr2:
13897244-13897244

T

TAAAC

intergenic

De novo

-

Yuen2017 G

LOC100506474

2-1154-003

chr2:
14345692-14345692

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LOC100506474

1-0414-005

chr2:
13500026-13500026

T

C

intergenic

De novo

-

Yuen2017 G

LOC100506474

1-0169-004

chr2:
14305108-14305108

A

G

intergenic

De novo

-

Yuen2017 G

LOC100506474

AU4314302

chr2:
13331934-13331934

G

C

intergenic

De novo

-

Yuen2017 G

LOC100506474

AU072004

chr2:
13330700-13330700

G

A

intergenic

De novo

-

Yuen2017 G

LOC100506474

5-0014-004

chr2:
13112091-13112091

T

C

ncRNA_intronic

De novo

-

Yuen2017 G

LOC100506474

2-1335-003

chr2:
14141100-14141100

A

G

intergenic

De novo

-

Yuen2017 G

LOC100506474

7-0123-003

chr2:
13630561-13630561

C

T

intergenic

De novo

-

Yuen2017 G

LOC100506474

7-0254-004

chr2:
14203980-14203983

AGGG

AGG

intergenic

De novo

-

Yuen2017 G

LOC100506474

2-1364-003

chr2:
13411351-13411351

G

A

intergenic

De novo

-

Yuen2017 G

LOC100506474

AU3371303

chr2:
13484691-13484691

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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