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Results for "OTOR"

Variant Events: 19

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
OTOR     AU012803chr20:
17168148-17168148
GAintergenicDe novo--Yuen2017 G
OTOR     AU2293302chr20:
16957313-16957313
AGintergenicDe novo--Yuen2017 G
OTOR     1-0338-003chr20:
16953218-16953218
GTintergenicDe novo--Yuen2017 G
OTOR     2-1702-004chr20:
16970500-16970500
TCintergenicDe novo--Yuen2017 G
OTOR     AU3052302chr20:
17112316-17112316
CTintergenicDe novo--Yuen2017 G
OTOR     1-0045-004chr20:
16910436-16910436
CTintergenicDe novo--Yuen2017 G
OTOR     5-0065-003chr20:
17114851-17114855
GCACTGintergenicDe novo--Yuen2017 G
OTOR     AU3154301chr20:
17064506-17064506
TCintergenicDe novo--Yuen2017 G
OTOR     1-0045-004chr20:
16927259-16927259
TAintergenicDe novo--Yuen2017 G
OTOR     1-0224-004chr20:
16830791-16830791
TTAAAAAAAintergenicDe novo--Yuen2017 G
OTOR     1-0045-004chr20:
16922378-16922378
TGintergenicDe novo--Yuen2017 G
OTOR     AU1795303chr20:
17014780-17014780
TCintergenicDe novo--Yuen2017 G
OTOR     2-0223-003chr20:
16963235-16963235
CCCTTintergenicDe novo--Yuen2017 G
OTOR     2-0198-003chr20:
16873975-16873975
CTintergenicDe novo--Yuen2017 G
OTOR     2-1160-003chr20:
17140309-17140309
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
OTOR     A18chr20:
16852807-16852807
GTintergenicDe novo--Wu2018 G
OTOR     1-0652-003chr20:
17083851-17083851
ATintergenicDe novo--Yuen2017 G
OTOR     1-0126-003chr20:
17064660-17064660
TCintergenicDe novo--Yuen2017 G
OTOR     3-0169-000chr20:
17069223-17069223
AGintergenicDe novo--Yuen2016 G
Source Variant Information

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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 notesView
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