Variant Results

or

Results for "LOC643542"

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

LOC643542

2-1272-003

chr18:
66330135-66330135

T

C

intergenic

De novo

-

Yuen2016 G

LOC643542

1-0043-003

chr18:
66310544-66310544

G

T

intergenic

De novo

-

Yuen2017 G

LOC643542

AU3955303

Complex Event; expand row to view variants

De novo

-

Yuen2017 G
Yuen2017 G

LOC643542

1-0121-003

chr18:
66225593-66225593

A

G

intergenic

De novo

-

Yuen2017 G

LOC643542

7-0251-003

chr18:
65563460-65563460

C

A

ncRNA_intronic

De novo

-

Yuen2017 G

LOC643542

2-0149-004

chr18:
65971346-65971346

G

A

intergenic

De novo

-

Yuen2017 G

LOC643542

AU0039303

chr18:
65187037-65187037

A

G

ncRNA_intronic

De novo

-

Yuen2017 G

LOC643542

1-0346-004

chr18:
65867491-65867491

A

G

intergenic

De novo

-

Yuen2017 G

LOC643542

1-0232-004

chr18:
65733327-65733327

G

GTTTTTTT

intergenic

De novo

-

Yuen2017 G

LOC643542

1-0303-004

chr18:
65901918-65901918

T

C

intergenic

De novo

-

Yuen2017 G

LOC643542

AU2109301

chr18:
65511025-65511025

A

T

ncRNA_intronic

De novo

-

Yuen2017 G

LOC643542

2-0242-003

chr18:
65859248-65859248

T

G

intergenic

De novo

-

Yuen2017 G

LOC643542

2-1182-003

chr18:
65285682-65285682

T

C

ncRNA_intronic

De novo

-

Yuen2016 G
Yuen2017 G

LOC643542

1-0079-008

chr18:
65415350-65415350

T

C

ncRNA_intronic

De novo

-

Yuen2017 G

LOC643542

2-1416-003

chr18:
65979570-65979570

G

A

intergenic

De novo

-

Yuen2017 G

LOC643542

2-1350-003

chr18:
65915894-65915894

A

ACT

intergenic

De novo

-

Yuen2017 G

LOC643542

1-0436-003

chr18:
65443738-65443738

G

C

ncRNA_intronic

De novo

-

Yuen2016 G
Yuen2017 G

LOC643542

AU2950302

chr18:
65271859-65271859

T

C

ncRNA_intronic

De novo

-

Yuen2017 G

LOC643542

1-0286-004

chr18:
65197566-65197566

G

A

ncRNA_intronic

De novo

-

Yuen2017 G

LOC643542

7-0249-004

chr18:
66285175-66285175

C

T

intergenic

De novo

-

Yuen2017 G

LOC643542

1-0383-003

chr18:
65736083-65736083

A

G

intergenic

De novo

-

Yuen2017 G

LOC643542

2-0285-004

chr18:
66250492-66250492

C

A

intergenic

De novo

-

Yuen2017 G

LOC643542

AU076704

chr18:
65552622-65552622

A

G

ncRNA_intronic

De novo

-

Yuen2017 G

LOC643542

AU3937301

chr18:
65202095-65202095

C

T

ncRNA_intronic

De novo

-

Yuen2017 G

LOC643542

AU2333302

chr18:
65254524-65254524

A

G

ncRNA_intronic

De novo

-

Yuen2017 G

LOC643542

63-449

chr18:
65936701-65936701

T

C

intergenic

De novo

-

Michaelson2012 G

LOC643542

2-1235-003

chr18:
66279578-66279578

G

A

intergenic

De novo

-

Yuen2017 G

LOC643542

74-0352

chr18:
65688496-65688496

G

A

intergenic

De novo

-

Michaelson2012 G

LOC643542

AU4188302

chr18:
65353113-65353113

C

T

ncRNA_intronic

De novo

-

Yuen2017 G

LOC643542

AU043804

chr18:
66166147-66166147

T

A

intergenic

De novo

-

Yuen2017 G

LOC643542

AU4235302

chr18:
66291446-66291446

G

A

intergenic

De novo

-

Yuen2017 G

LOC643542

1-0007-003

chr18:
66278876-66278892

CAGAGAGAGAGAGAGAG

CAGAGAGAGAGAGAG

intergenic

De novo

-

Yuen2017 G

LOC643542

AU4392302

chr18:
65515796-65515796

C

T

ncRNA_intronic

De novo

-

Yuen2017 G

LOC643542

2-0158-003

chr18:
65668340-65668340

G

A

intergenic

De novo

-

Yuen2017 G

LOC643542

2-1619-003

chr18:
65682467-65682467

T

C

intergenic

De novo

-

Yuen2017 G

LOC643542

AU3862305

chr18:
65485261-65485272

GCTATTATTTAA

G

ncRNA_intronic

De novo

-

Yuen2017 G

LOC643542

AU4024303

chr18:
65330428-65330428

T

C

ncRNA_intronic

De novo

-

Yuen2017 G

LOC643542

2-1266-003

chr18:
66325763-66325763

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LOC643542

1-0590-003

chr18:
66235913-66235927

GTATATATATATATA

GTATATATATATA

intergenic

De novo

-

Yuen2017 G

LOC643542

2-0285-003

chr18:
66316578-66316578

C

T

intergenic

De novo

-

Yuen2017 G

LOC643542

AU3903302

chr18:
65544421-65544421

A

G

ncRNA_intronic

De novo

-

Yuen2017 G

LOC643542

1-0357-003

chr18:
65608807-65608807

C

T

intergenic

De novo

-

Yuen2017 G

LOC643542

1-0720-003

chr18:
65730289-65730289

T

C

intergenic

De novo

-

Yuen2017 G

LOC643542

5-0042-003

chr18:
66084426-66084426

T

G

intergenic

De novo

-

Yuen2017 G

LOC643542

AU003405

chr18:
65579293-65579293

A

G

intergenic

De novo

-

Yuen2017 G

LOC643542

A13

chr18:
65796995-65796995

C

T

intergenic

De novo

-

Wu2018 G

LOC643542

1-0138-003

chr18:
66088975-66088975

C

T

intergenic

De novo

-

Yuen2017 G

LOC643542

2-1461-003

chr18:
65488854-65488854

C

T

ncRNA_intronic

De novo

-

Yuen2016 G

LOC643542

AU4372309

chr18:
65188815-65188815

T

G

ncRNA_intronic

De novo

-

Yuen2017 G

LOC643542

1-0464-003

chr18:
65945535-65945535

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LOC643542

AU3912303

chr18:
65307990-65307990

C

T

ncRNA_intronic

De novo

-

Yuen2017 G

LOC643542

2-1375-003

chr18:
65947208-65947208

C

T

intergenic

De novo

-

Yuen2017 G

LOC643542

2-1112-003

chr18:
65343419-65343419

T

C

ncRNA_intronic

De novo

-

Yuen2016 G
Yuen2017 G

LOC643542

2-1416-004

chr18:
65979570-65979570

G

A

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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