Variant Results

or

Results for "BRD4"

Variant Events: 27

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

BRD4

2-1735-003

chr19:
15353492-15353492

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

BRD4

13272.p1

chr19:
15353791-15353791

G

A

exonic

Mosaic, De novo

nonsynonymous SNV

NM_058243

c.C3089T

p.P1030L

9.774

1.607E-5

Krumm2015 E
Lim2017 E
Satterstrom2020 E
Trost2022 G

BRD4

TAS_F0207X

chr19:
15349776-15349776

C

T

exonic

De novo

synonymous SNV

NM_058243

c.G3798A

p.E1266E

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

BRD4

7-0253-005

chr19:
15412382-15412382

A

C

intergenic

De novo

-

Yuen2017 G

BRD4

1-0640-003

chr19:
15419610-15419610

A

T

intergenic

De novo

-

Trost2022 G
Yuen2017 G

BRD4

121_16mr

chr19:
15375544-15375544

T

G

exonic

De novo

nonsynonymous SNV

NM_014299
NM_058243

c.A883C
c.A883C

p.T295P
p.T295P

26.5

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

BRD4

13047.p1

chr19:
15355419-15355421

CAG

C

intronic

De novo

-

3.321E-5

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

BRD4

1-0560-003

chr19:
15391480-15391480

C

T

upstream

De novo

-

Trost2022 G
Yuen2017 G

BRD4

SP0034451

chr19:
15354188-15354188

G

T

exonic

De novo

nonsynonymous SNV

NM_058243

c.C2692A

p.P898T

3.171

-

Fu2022 E
Trost2022 G
Zhou2022 GE

BRD4

12733.p1

Complex Event; expand row to view variants

De novo

nonframeshift deletion

NM_014299
NM_058243
NM_014299
NM_058243

c.649_651del
c.649_651del
c.648_650del
c.648_650del

p.217_217del
p.217_217del
p.216_217del
p.216_217del

-

8.238E-6

Dong2014 E
Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

BRD4

DEASD_1048_001

chr19:
15374305-15374305

G

A

exonic

De novo

stopgain

NM_014299
NM_058243

c.C1267T
c.C1267T

p.R423X
p.R423X

40.0

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

BRD4

mAGRE5512

chr19:
15353710-15353710

C

T

splicing

Paternal

splicing

10.96

-

Cirnigliaro2023 G

BRD4

AU2792301

chr19:
15433113-15433113

C

G

intergenic

De novo

-

Trost2022 G
Yuen2017 G

BRD4

SP0232954

chr19:
15354290-15354290

T

C

exonic

De novo

nonsynonymous SNV

NM_058243

c.A2590G

p.N864D

16.59

-

Trost2022 G

BRD4

SSC09117

chr19:
15355419-15355421

CAG

C

intronic

De novo

-

3.321E-5

Trost2022 G

BRD4

3-0236-000

chr19:
15348542-15348542

G

A

UTR3

De novo

-

Trost2022 G

BRD4

13256.p1

chr19:
15375549-15375549

T

C

exonic

De novo

nonsynonymous SNV

NM_014299
NM_058243

c.A878G
c.A878G

p.D293G
p.D293G

27.1

-

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

BRD4

4-0088-003

chr19:
15374280-15374280

T

A

exonic

De novo

nonsynonymous SNV

NM_014299
NM_058243

c.A1292T
c.A1292T

p.K431M
p.K431M

22.4

-

Trost2022 G
Zhou2022 GE

BRD4

3-0534-000

chr19:
15434146-15434146

C

T

intergenic

De novo

-

Trost2022 G

BRD4

SP0033886

chr19:
15355351-15355351

G

T

exonic

De novo

nonsynonymous SNV

NM_058243

c.C2272A

p.P758T

0.48

-

Trost2022 G
Zhou2022 GE

BRD4

7-0442-003

chr19:
15436267-15436267

C

T

intergenic

De novo

-

Trost2022 G

BRD4

SSC05872

chr19:
15376362-15376365

CAGG

C

exonic

De novo

nonframeshift deletion

NM_014299
NM_058243

c.649_651del
c.649_651del

p.217_217del
p.217_217del

-

8.238E-6

Trost2022 G

BRD4

2-0007-004

chr19:
15395385-15395385

A

G

intergenic

De novo

-

Trost2022 G
Yuen2017 G

BRD4

REACH000738

chr19:
15395636-15395636

G

A

intergenic

De novo

-

Trost2022 G

BRD4

MSSNG00117-003

chr19:
15373095-15373095

G

A

intronic

De novo

-

Trost2022 G

BRD4

SP0233812

chr19:
15376188-15376188

C

T

exonic

De novo

nonsynonymous SNV

NM_014299
NM_058243

c.G826A
c.G826A

p.A276T
p.A276T

4.808

1.964E-5

Trost2022 G

BRD4

SSC06885

chr19:
15375549-15375549

T

C

exonic

De novo

nonsynonymous SNV

NM_014299
NM_058243

c.A878G
c.A878G

p.D293G
p.D293G

27.1

-

Fu2022 E
Lim2017 E
Trost2022 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