Variant Results

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Results for "BCL6"

Variant Events: 25

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

BCL6

1-0277-003

chr3:
187463726-187463726

G

A

upstream

De novo

-

-

Yuen2016 G
Yuen2017 G

BCL6

7-0253-005

chr3:
187524199-187524199

T

C

intergenic

De novo

-

-

Yuen2017 G

BCL6

2-1244-003

chr3:
187814681-187814681

G

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

BCL6

2-1328-003

chr3:
187689942-187689942

C

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

BCL6

3-0482-000

chr3:
187440375-187440375

G

T

exonic

De novo

nonsynonymous SNV

NM_001134738
NM_001130845
NM_001706

c.C1824A
c.C1992A
c.C1992A

p.N608K
p.N664K
p.N664K

16.91

-

Yuen2017 G

BCL6

1-0446-003

chr3:
187603432-187603432

C

CCTCTTTAT

intergenic

De novo

-

-

Yuen2017 G

BCL6

1-0745-003

chr3:
187796740-187796740

C

T

intergenic

De novo

-

-

Yuen2017 G

BCL6

AU3397302

chr3:
187532862-187532874

ACAAGAGACCCGC

AC

intergenic

De novo

-

-

Yuen2017 G

BCL6

13612.p1

chr3:
187451338-187451338

C

T

exonic

De novo

synonymous SNV

NM_001134738
NM_001130845
NM_001706

c.G144A
c.G144A
c.G144A

p.T48T
p.T48T
p.T48T

-

Iossifov2012 E

BCL6

1-0638-003

chr3:
187832888-187832888

G

A

intergenic

De novo

-

-

Yuen2017 G

BCL6

SSC04381

chr3:
187446290-187446290

T

G

exonic

De novo

synonymous SNV

NM_001134738
NM_001130845
NM_001706

c.A1398C
c.A1398C
c.A1398C

p.S466S
p.S466S
p.S466S

-

-

Lim2017 E

BCL6

PN400102

chr3:
187451364-187451364

G

A

exonic

Unknown

nonsynonymous SNV

NM_001134738
NM_001130845
NM_001706

c.C118T
c.C118T
c.C118T

p.R40C
p.R40C
p.R40C

21.1

Leblond2019 E

BCL6

AU3692302

chr3:
187852607-187852607

A

G

intergenic

De novo

-

-

Yuen2017 G

BCL6

AU1909304

chr3:
187601868-187601868

A

T

intergenic

De novo

-

-

Yuen2017 G

BCL6

12099.p1

chr3:
187446290-187446290

T

G

exonic

Mosaic, De novo

synonymous SNV

NM_001134738
NM_001130845
NM_001706

c.A1398C
c.A1398C
c.A1398C

p.S466S
p.S466S
p.S466S

-

-

Dou2017 E
Krumm2015 E

BCL6

1-0200-004

chr3:
187798759-187798759

G

A

intergenic

De novo

-

-

Yuen2017 G

BCL6

2-1425-003

chr3:
187513200-187513200

G

GAAGGAGGA

intergenic

De novo

-

-

Yuen2017 G

BCL6

5-0109-003

chr3:
187598320-187598320

A

G

intergenic

De novo

-

-

Yuen2017 G

BCL6

1-0906-003

chr3:
187733564-187733564

A

G

intergenic

De novo

-

-

Yuen2017 G

BCL6

1-0579-003

chr3:
187568155-187568155

C

T

intergenic

De novo

-

-

Yuen2017 G

BCL6

1-0973-003

chr3:
187713459-187713459

A

T

intergenic

De novo

-

-

Yuen2017 G

BCL6

1-0674-004

chr3:
187668037-187668037

T

G

intergenic

De novo

-

-

Yuen2017 G

BCL6

2-1567-003

chr3:
187783482-187783482

G

A

intergenic

De novo

-

-

Yuen2017 G

BCL6

SP0139811

chr3:
187451296-187451296

C

T

intronic

De novo

-

-

Fu2022 E

BCL6

1-0565-004

chr3:
187637186-187637186

C

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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