Variant Results

or

Results for "LOC100129138"

Variant Events: 90

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

LOC100129138

7-0023-003

chr1:
104786720-104786720

A

C

intergenic

De novo

-

Yuen2017 G

LOC100129138

2-0088-003

chr1:
105171191-105171191

G

A

intergenic

De novo

-

Yuen2017 G

LOC100129138

AU2019302

chr1:
105554155-105554155

C

T

intergenic

De novo

-

Yuen2017 G

LOC100129138

AU4154303

chr1:
105572397-105572397

A

T

intergenic

De novo

-

Yuen2017 G

LOC100129138

5-0025-003

chr1:
104849223-104849223

C

T

intergenic

De novo

-

Yuen2017 G

LOC100129138

1-0467-003

chr1:
105156076-105156078

CTA

C

intergenic

De novo

-

Yuen2017 G

LOC100129138

2-0208-004

chr1:
104702322-104702322

G

GA

intergenic

De novo

-

Yuen2017 G

LOC100129138

5-0025-003

chr1:
105298774-105298774

G

A

intergenic

De novo

-

Yuen2017 G

LOC100129138

AU031003

chr1:
104999125-104999125

C

T

intergenic

De novo

-

Yuen2017 G

LOC100129138

1-0862-003

chr1:
105715519-105715519

C

T

intergenic

De novo

-

Yuen2017 G

LOC100129138

AU073005

chr1:
104716984-104716990

CAAAAAA

CAAAAA

intergenic

De novo

-

Yuen2017 G

LOC100129138

2-0098-003

chr1:
104761097-104761097

A

G

intergenic

De novo

-

Yuen2017 G

LOC100129138

7-0058-003

chr1:
105832849-105832849

T

C

intergenic

De novo

-

Yuen2017 G

LOC100129138

AU4429301

chr1:
105109762-105109762

G

A

intergenic

De novo

-

Yuen2017 G

LOC100129138

AU3964302

chr1:
104670628-104670628

A

G

intergenic

De novo

-

Yuen2017 G

LOC100129138

AU1909304

chr1:
105356350-105356350

A

G

intergenic

De novo

-

Yuen2017 G

LOC100129138

2-1425-003

chr1:
106026668-106026668

C

T

intergenic

De novo

-

Yuen2017 G

LOC100129138

AU074503

chr1:
104938046-104938046

G

A

intergenic

De novo

-

Yuen2017 G

LOC100129138

1-0067-004

chr1:
104854243-104854243

A

G

intergenic

De novo

-

Yuen2017 G

LOC100129138

1-0585-003

chr1:
105453791-105453791

T

C

intergenic

De novo

-

Yuen2017 G

LOC100129138

AU2023302

chr1:
105145190-105145190

T

A

intergenic

De novo

-

Yuen2017 G

LOC100129138

AU3720302

chr1:
105268071-105268071

C

A

intergenic

De novo

-

Yuen2017 G

LOC100129138

2-1183-003

chr1:
105682003-105682003

A

G

intergenic

De novo

-

Yuen2017 G

LOC100129138

AU2140306

chr1:
105618271-105618271

A

C

intergenic

De novo

-

Yuen2017 G

LOC100129138

1-0065-005

chr1:
105279591-105279591

T

C

intergenic

De novo

-

Yuen2017 G

LOC100129138

2-1429-003

chr1:
104853234-104853234

A

G

intergenic

De novo

-

Yuen2017 G

LOC100129138

2-1170-003

chr1:
105368795-105368795

T

C

intergenic

De novo

-

Yuen2017 G

LOC100129138

2-0208-003

chr1:
105214873-105214873

C

T

intergenic

De novo

-

Yuen2017 G

LOC100129138

AU4067301

chr1:
104701164-104701164

T

C

intergenic

De novo

-

Yuen2017 G

LOC100129138

1-0820-003

chr1:
105390609-105390609

T

C

intergenic

De novo

-

Yuen2017 G

LOC100129138

AU050910

chr1:
105859397-105859397

A

G

intergenic

De novo

-

Yuen2017 G

LOC100129138

AU4032306

chr1:
104616431-104616431

C

T

ncRNA_exonic

De novo

-

Yuen2017 G

LOC100129138

AU2292301

chr1:
105610066-105610066

T

A

intergenic

De novo

-

Yuen2017 G

LOC100129138

1-0344-003

chr1:
105151759-105151759

C

T

intergenic

De novo

-

Yuen2017 G

LOC100129138

AU054303

chr1:
104751918-104751918

T

C

intergenic

De novo

-

Yuen2017 G

LOC100129138

AU031404

chr1:
105149861-105149861

G

T

intergenic

De novo

-

Yuen2017 G

LOC100129138

AU3635301

chr1:
105271388-105271388

T

C

intergenic

De novo

-

Yuen2017 G

LOC100129138

AU3371305

chr1:
105236518-105236518

C

T

intergenic

De novo

-

Yuen2017 G

LOC100129138

2-0002-005

chr1:
105762631-105762631

G

A

intergenic

De novo

-

Yuen2017 G

LOC100129138

AU3779304

chr1:
104715162-104715162

C

G

intergenic

De novo

-

Yuen2017 G

LOC100129138

2-1380-003

chr1:
105708728-105708728

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LOC100129138

AU3768302

chr1:
105860688-105860688

C

T

intergenic

De novo

-

Yuen2017 G

LOC100129138

AU3779304

chr1:
104716640-104716640

G

A

intergenic

De novo

-

Yuen2017 G

LOC100129138

AU4435301

chr1:
105545131-105545131

C

T

intergenic

De novo

-

Yuen2017 G

LOC100129138

2-1373-003

chr1:
105258960-105258960

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LOC100129138

2-0135-004

chr1:
106001842-106001842

A

C

intergenic

De novo

-

Yuen2017 G

LOC100129138

AU3729301

chr1:
105715716-105715716

G

A

intergenic

De novo

-

Yuen2017 G

LOC100129138

A25

chr1:
105473745-105473745

C

T

intergenic

De novo

-

Wu2018 G

LOC100129138

A32

chr1:
106031290-106031290

G

A

intergenic

De novo

-

Wu2018 G

LOC100129138

1-0353-003

chr1:
105132574-105132574

C

T

intergenic

De novo

-

Yuen2017 G

LOC100129138

AU3765302

chr1:
105823042-105823042

G

A

intergenic

De novo

-

Yuen2017 G

LOC100129138

1-0467-005

chr1:
105156076-105156078

CTA

C

intergenic

De novo

-

Yuen2017 G

LOC100129138

AU2485305

chr1:
105075362-105075362

C

G

intergenic

De novo

-

Yuen2017 G

LOC100129138

2-1508-003

chr1:
105073226-105073226

G

A

intergenic

De novo

-

Yuen2017 G

LOC100129138

2-1105-003

chr1:
105931518-105931518

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LOC100129138

2-1305-003

chr1:
105138978-105138978

T

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LOC100129138

13083.p1

chr1:
105963774-105963774

G

GT

intergenic

Unknown

-

Werling2018 G

LOC100129138

2-1356-003

chr1:
105893478-105893478

C

T

intergenic

De novo

-

Yuen2016 G

LOC100129138

5-0137-003

chr1:
105984158-105984158

C

T

intergenic

De novo

-

Yuen2017 G

LOC100129138

2-1452-003

chr1:
105270001-105270001

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LOC100129138

7-0183-003

chr1:
105299120-105299120

G

A

intergenic

De novo

-

Yuen2017 G

LOC100129138

AU3915301

chr1:
104727086-104727086

T

C

intergenic

De novo

-

Yuen2017 G

LOC100129138

7-0183-003

chr1:
105927615-105927615

G

A

intergenic

De novo

-

Yuen2017 G

LOC100129138

13964.p1

chr1:
104656358-104656358

A

T

intergenic

De novo

-

Turner2016 G

LOC100129138

1-0445-003

chr1:
104844738-104844738

C

T

intergenic

De novo

-

Yuen2017 G

LOC100129138

1-0567-004

chr1:
105788357-105788357

A

G

intergenic

De novo

-

Yuen2017 G

LOC100129138

7-0008-003

chr1:
105737232-105737232

G

A

intergenic

De novo

-

Yuen2017 G

LOC100129138

1-0402-004

chr1:
105319160-105319160

G

A

intergenic

De novo

-

Yuen2017 G

LOC100129138

2-1251-003

chr1:
104908433-104908433

A

G

intergenic

De novo

-

Yuen2017 G

LOC100129138

2-1591-003

chr1:
106127708-106127708

A

C

intergenic

De novo

-

Yuen2017 G

LOC100129138

1-0482-003

chr1:
105433376-105433376

T

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LOC100129138

AU4027306

chr1:
104889648-104889648

C

A

intergenic

De novo

-

Yuen2017 G

LOC100129138

AU2950301

chr1:
105595179-105595179

T

C

intergenic

De novo

-

Yuen2017 G

LOC100129138

A16

chr1:
104948561-104948561

A

G

intergenic

De novo

-

Wu2018 G

LOC100129138

AU028305

chr1:
105919262-105919262

A

T

intergenic

De novo

-

Yuen2017 G

LOC100129138

AU4145301

chr1:
105968446-105968446

C

T

intergenic

De novo

-

Yuen2017 G

LOC100129138

2-1389-003

chr1:
105198576-105198576

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LOC100129138

AU4015302

chr1:
104964489-104964489

T

C

intergenic

De novo

-

Yuen2017 G

LOC100129138

AU2292302

chr1:
105610066-105610066

T

A

intergenic

De novo

-

Yuen2017 G

LOC100129138

AU047704

chr1:
105548417-105548417

C

T

intergenic

De novo

-

Yuen2017 G

LOC100129138

1-0263-003

chr1:
104906674-104906674

T

G

intergenic

De novo

-

Yuen2016 G

LOC100129138

7-0143-003

chr1:
105788009-105788009

T

C

intergenic

De novo

-

Yuen2017 G

LOC100129138

A16

chr1:
104933916-104933916

G

A

intergenic

De novo

-

Wu2018 G

LOC100129138

1-0190-003

chr1:
105735551-105735551

C

G

intergenic

De novo

-

Yuen2017 G

LOC100129138

AU3695303

chr1:
105319994-105319997

CTTT

CTT

intergenic

De novo

-

Yuen2017 G

LOC100129138

1-0389-004

chr1:
105888247-105888247

A

G

intergenic

De novo

-

Yuen2017 G

LOC100129138

2-1066-004

chr1:
105903366-105903366

G

A

intergenic

De novo

-

Yuen2017 G

LOC100129138

2-1173-003

chr1:
105702744-105702744

A

G

intergenic

De novo

-

Yuen2017 G

LOC100129138

2-1306-004

chr1:
104791438-104791439

GT

G

intergenic

De novo

-

Yuen2017 G

LOC100129138

AU3702306

chr1:
105784728-105784728

T

C

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
	More