Variant Results

or

Results for "OTOL1"

Variant Events: 84

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

OTOL1

2-1487-003

chr3:
161344731-161344731

G

A

intergenic

De novo

-

Yuen2017 G

OTOL1

1-0533-003

chr3:
161966140-161966141

GA

G

intergenic

De novo

-

Yuen2017 G

OTOL1

AU0540301

chr3:
161436773-161436773

T

A

intergenic

De novo

-

Yuen2017 G

OTOL1

AU2793301

chr3:
162851502-162851505

CTAT

CT

intergenic

De novo

-

Yuen2017 G

OTOL1

AU011021

chr3:
162238144-162238144

C

T

intergenic

De novo

-

Yuen2017 G

OTOL1

1-0625-003

chr3:
162497894-162497894

A

AAC

intergenic

De novo

-

Yuen2017 G

OTOL1

2-1329-003

chr3:
161671576-161671576

T

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

OTOL1

AU4379301

chr3:
161981050-161981050

G

A

intergenic

De novo

-

Yuen2017 G

OTOL1

AU3371301

chr3:
161696178-161696178

C

G

intergenic

De novo

-

Yuen2017 G

OTOL1

1-0395-003

chr3:
161425672-161425672

G

A

intergenic

De novo

-

Yuen2017 G

OTOL1

A26

chr3:
162343943-162343943

T

A

intergenic

De novo

-

Wu2018 G

OTOL1

AU3051302

chr3:
161990281-161990281

T

C

intergenic

De novo

-

Yuen2017 G

OTOL1

AU008505

chr3:
162326277-162326277

A

G

intergenic

De novo

-

Yuen2017 G

OTOL1

2-1366-003

chr3:
162251260-162251260

G

T

intergenic

De novo

-

Yuen2017 G

OTOL1

1-0406-003

chr3:
161533915-161533915

C

A

intergenic

De novo

-

Yuen2017 G

OTOL1

1-0075-003

chr3:
162691704-162691704

A

T

intergenic

De novo

-

Yuen2017 G

OTOL1

1-0261-004

chr3:
162052082-162052082

C

CTGAT

intergenic

De novo

-

Yuen2017 G

OTOL1

2-1276-003

chr3:
161908396-161908396

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

OTOL1

2-1594-003

chr3:
162468605-162468605

T

C

intergenic

De novo

-

Yuen2017 G

OTOL1

7-0100-003

chr3:
161642403-161642408

AATTAC

A

intergenic

De novo

-

Yuen2017 G

OTOL1

5-0073-003

chr3:
161312971-161312971

C

G

intergenic

De novo

-

Yuen2017 G

OTOL1

5-0073-003

chr3:
162257654-162257654

T

C

intergenic

De novo

-

Yuen2017 G

OTOL1

AU3782302

chr3:
161466409-161466409

C

T

intergenic

De novo

-

Yuen2017 G

OTOL1

AU3808305

chr3:
161295112-161295112

G

T

intergenic

De novo

-

Yuen2017 G

OTOL1

1-0862-003

chr3:
161457351-161457352

AT

A

intergenic

De novo

-

Yuen2017 G

OTOL1

AU3175302

chr3:
161791871-161791871

C

G

intergenic

De novo

-

Yuen2017 G

OTOL1

1-0976-003

chr3:
162288240-162288240

T

C

intergenic

De novo

-

Yuen2017 G

OTOL1

2-1459-003

chr3:
161337295-161337295

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

OTOL1

AU4122301

chr3:
161802608-161802616

AATCTATCT

AATCT

intergenic

De novo

-

Yuen2017 G

OTOL1

1-0530-003

chr3:
162006535-162006535

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

OTOL1

1-0121-003

chr3:
162251026-162251026

T

G

intergenic

De novo

-

Yuen2017 G

OTOL1

1-0121-003

chr3:
161857570-161857570

A

G

intergenic

De novo

-

Yuen2017 G

OTOL1

2-1475-003

chr3:
162848496-162848496

G

A

intergenic

De novo

-

Yuen2017 G

OTOL1

1-0332-003

chr3:
162272789-162272789

C

T

intergenic

De novo

-

Yuen2017 G

OTOL1

2-0110-003

chr3:
162144147-162144147

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

OTOL1

AU058105

chr3:
162582345-162582350

CATTTA

CA

intergenic

De novo

-

Yuen2017 G

OTOL1

AU4015303

chr3:
161219507-161219507

A

G

intronic

De novo

-

Yuen2017 G

OTOL1

2-0045-003

chr3:
161250923-161250923

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

OTOL1

14670.p1

chr3:
161217077-161217077

A

AG

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

OTOL1

AU074403

chr3:
161943986-161943988

CAT

C

intergenic

De novo

-

Yuen2017 G

OTOL1

AU079605

chr3:
161598418-161598418

T

C

intergenic

De novo

-

Yuen2017 G

OTOL1

AU2292301

chr3:
162646533-162646537

CAAAA

CAAA

intergenic

De novo

-

Yuen2017 G

OTOL1

1-0354-003

chr3:
162491840-162491840

T

TATAACATGAATCAA

intergenic

De novo

-

Yuen2017 G

OTOL1

2-1357-004

chr3:
162856193-162856193

A

G

intergenic

De novo

-

Yuen2017 G

OTOL1

2-0238-004

chr3:
162182031-162182048

CTTCACCAGCATCTGTTA

C

intergenic

De novo

-

Yuen2017 G

OTOL1

AU4164301

chr3:
161524587-161524592

TATCAT

TAT

intergenic

De novo

-

Yuen2017 G

OTOL1

2-0223-003

chr3:
161982128-161982128

G

T

intergenic

De novo

-

Yuen2017 G

OTOL1

AU3846302

chr3:
162273605-162273616

CTTTGTTTGTTT

CTTTGTTT

intergenic

De novo

-

Yuen2017 G

OTOL1

AU4145303

chr3:
162693150-162693150

A

G

intergenic

De novo

-

Yuen2017 G

OTOL1

2-1094-004

chr3:
162651207-162651207

C

A

intergenic

De novo

-

Yuen2017 G

OTOL1

1-0486-003

chr3:
161760666-161760666

T

C

intergenic

De novo

-

Yuen2017 G

OTOL1

3-0439-000

chr3:
161938531-161938531

G

A

intergenic

De novo

-

Yuen2016 G

OTOL1

1-0259-005

chr3:
161258645-161258645

T

A

intergenic

De novo

-

Yuen2017 G

OTOL1

1-0274-004

chr3:
161338618-161338618

G

A

intergenic

De novo

-

Yuen2017 G

OTOL1

1-0985-003

chr3:
162861144-162861144

C

T

intergenic

De novo

-

Yuen2017 G

OTOL1

1-0285-003

chr3:
161575752-161575752

A

G

intergenic

De novo

-

Yuen2017 G

OTOL1

AU3888302

chr3:
162844503-162844503

C

T

intergenic

De novo

-

Yuen2017 G

OTOL1

1-0232-004

chr3:
162335161-162335161

G

T

intergenic

De novo

-

Yuen2017 G

OTOL1

AU3051303

chr3:
161929209-161929209

C

T

intergenic

De novo

-

Yuen2017 G

OTOL1

AU3768302

chr3:
162500251-162500251

T

C

intergenic

De novo

-

Yuen2017 G

OTOL1

AU4007301

chr3:
161873796-161873796

C

T

intergenic

De novo

-

Yuen2017 G

OTOL1

AU4159302

chr3:
161498830-161498831

AT

A

intergenic

De novo

-

Yuen2017 G

OTOL1

2-1357-003

chr3:
161611998-161611998

T

C

intergenic

De novo

-

Yuen2017 G

OTOL1

7-0148-003

chr3:
161664346-161664347

AG

A

intergenic

De novo

-

Yuen2017 G

OTOL1

AU3782303

chr3:
162435530-162435530

C

T

intergenic

De novo

-

Yuen2017 G

OTOL1

1-0991-003

chr3:
162330492-162330492

A

T

intergenic

De novo

-

Yuen2017 G

OTOL1

2-1120-003

chr3:
161779889-161779889

C

T

intergenic

De novo

-

Yuen2017 G

OTOL1

13543.p1

chr3:
161683388-161683388

C

G

intergenic

De novo

-

Turner2016 G

OTOL1

12529.p1

chr3:
162334767-162334767

T

A

intergenic

De novo

-

Turner2016 G

OTOL1

13393.p1

chr3:
161327723-161327723

T

A

intergenic

De novo

-

Turner2016 G

OTOL1

2-0289-003

chr3:
162456143-162456143

A

G

intergenic

De novo

-

Yuen2017 G

OTOL1

1-0512-003

chr3:
162331486-162331486

A

T

intergenic

De novo

-

Yuen2017 G

OTOL1

A1

chr3:
162382020-162382020

G

A

intergenic

De novo

-

Wu2018 G

OTOL1

2-1148-004

chr3:
162491840-162491840

T

TATAACATGAATCAA

intergenic

De novo

-

Yuen2017 G

OTOL1

2-1459-003

chr3:
161564403-161564403

G

A

intergenic

De novo

-

Yuen2017 G

OTOL1

1-0274-003

chr3:
161338618-161338618

G

A

intergenic

De novo

-

Yuen2017 G

OTOL1

AU2075302

chr3:
162430727-162430727

C

A

intergenic

De novo

-

Yuen2017 G

OTOL1

2-0070-003

chr3:
161611772-161611772

T

C

intergenic

De novo

-

Yuen2017 G

OTOL1

AU028305

chr3:
162239089-162239089

T

A

intergenic

De novo

-

Yuen2017 G

OTOL1

1-0206-003

chr3:
162710772-162710772

G

T

intergenic

De novo

-

Yuen2017 G

OTOL1

AU2787301

chr3:
161668293-161668293

C

A

intergenic

De novo

-

Yuen2017 G

OTOL1

AU4027306

chr3:
162807062-162807062

A

C

intergenic

De novo

-

Yuen2017 G

OTOL1

AU3806304

chr3:
161578958-161578958

C

T

intergenic

De novo

-

Yuen2017 G

OTOL1

1-0049-004

chr3:
161218345-161218346

AG

A

intronic

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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