Variant Results

or

Results for "BRAF"

Variant Events: 40

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

BRAF

AGRE_03C17233

chr7:
140534477-140534477

G

A

exonic

Unknown

nonsynonymous SNV

NM_004333

c.C436T

p.R146W

20.8

-

Wang2020 T

BRAF

2-1415-004

chr7:
140579411-140579411

C

CAATT

intronic

De novo

-

Trost2022 G
Yuen2017 G

BRAF

AU1308303

chr7:
140451767-140451767

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

BRAF

AU3712301

chr7:
140479718-140479718

C

T

intronic

De novo

-

Yuen2017 G

BRAF

5-0061-003

chr7:
140569745-140569745

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

BRAF

7-0143-004

chr7:
140483780-140483780

T

C

intronic

De novo

-

Trost2022 G

BRAF

Miyake2023:8553

chr7:
140501350-140501350

G

A

exonic

De novo

nonsynonymous SNV

NM_004333

c.C722T

p.T241M

25.2

-

Miyake2023 E

BRAF

MSSNG00329-003

chr7:
140490392-140490392

T

C

intronic

De novo

-

Trost2022 G

BRAF

AU3782302

chr7:
140445974-140445974

A

T

intronic

De novo

-

Trost2022 G

BRAF

AU3918301

chr7:
140636003-140636003

A

G

intergenic

De novo

-

Yuen2017 G

BRAF

AU3782302

chr7:
140445982-140445982

G

C

intronic

De novo

-

Trost2022 G

BRAF

7-0247-003

chr7:
140508250-140508250

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

BRAF

SP0044376

chr7:
140507849-140507849

T

C

exonic

De novo

nonsynonymous SNV

NM_004333

c.A622G

p.I208V

12.91

8.255E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

BRAF

AU3782302

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

BRAF

AU3782302

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

BRAF

SP0102270

chr7:
140481398-140481398

T

G

exonic

De novo

synonymous SNV

NM_004333

c.A1410C

p.T470T

10.29

-

Fu2022 E
Zhou2022 GE

BRAF

SP0068911

chr7:
140481451-140481451

G

C

exonic

De novo

nonsynonymous SNV

NM_004333

c.C1357G

p.P453A

18.44

8.24E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

BRAF

7-0354-004

chr7:
140599155-140599155

T

C

intronic

De novo

-

Trost2022 G

BRAF

2-0135-003

chr7:
140570996-140571000

CGCGC

GGTGA

intronic

De novo

-

Trost2022 G

BRAF

Mahjani2021:40

chr7:
140434522-140434522

G

A

exonic

nonsynonymous SNV

NM_004333

c.C2176T

p.R726C

32.0

-

Mahjani2021 E

BRAF

2-0135-003

chr7:
140571004-140571007

TACT

GTG

intronic

De novo

-

Trost2022 G

BRAF

MSSNG00334-004

chr7:
140524923-140524923

C

T

intronic

De novo

-

Trost2022 G

BRAF

MSSNG00133-003

chr7:
140567464-140567464

A

G

intronic

De novo

-

Trost2022 G

BRAF

DEASD_0164_001

chr7:
140481409-140481409

A

C

exonic

Unknown, De novo

nonsynonymous SNV

NM_004333

c.T1399G

p.S467A

19.26

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE

BRAF

2-1690-003

chr7:
140457297-140457297

C

T

intronic

De novo

-

Yuen2017 G

BRAF

AU2836301

chr7:
140624469-140624469

G

A

exonic

nonsynonymous SNV

NM_004333

c.C35T

p.A12V

13.73

-

Zhou2022 GE

BRAF

7-0055-003

chr7:
140467372-140467372

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

BRAF

Hu2022:9

chr7:
140453146-140453146

G

C

exonic

Unknown

nonsynonymous SNV

NM_004333

c.C1789G

p.L597V

17.26

-

Hu2022 T

BRAF

AU002405

chr7:
140578162-140578162

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

BRAF

08C77381

chr7:
140624469-140624469

G

A

exonic

De novo

nonsynonymous SNV

NM_004333

c.C35T

p.A12V

13.73

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

BRAF

Mahjani2021:54

chr7:
140476813-140476813

C

A

exonic

nonsynonymous SNV

NM_004333

c.G1593T

p.W531C

23.8

-

Mahjani2021 E

BRAF

AU3760301

chr7:
140576567-140576567

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

BRAF

SF0068911.p1

chr7:
140481451-140481451

G

C

exonic

nonsynonymous SNV

NM_004333

c.C1357G

p.P453A

18.44

8.24E-6

Wang2020 T

BRAF

SanDiego_X5Z6E

chr7:
140476733-140476733

C

T

exonic

Unknown

nonsynonymous SNV

NM_004333

c.G1673A

p.R558Q

36.0

-

Wang2020 T

BRAF

7-0179-003

chr7:
140645285-140645306

CTCTTTCTTTCTTTCTTTCTTT

CTCTTTCTTTCTTTCTTT

intergenic

De novo

-

Yuen2017 G

BRAF

SanDiego_H5Z7Y

chr7:
140439727-140439727

C

T

exonic

Unknown

nonsynonymous SNV

NM_004333

c.G2012A

p.R671Q

35.0

8.327E-6

Wang2020 T

BRAF

SF0044376.p1

chr7:
140507849-140507849

T

C

exonic

nonsynonymous SNV

NM_004333

c.A622G

p.I208V

12.91

8.255E-6

Wang2020 T

BRAF

7-0100-003

chr7:
140673074-140673074

G

A

intergenic

De novo

-

Yuen2017 G

BRAF

Leuven_410451

chr7:
140476854-140476854

C

A

exonic

Unknown

nonsynonymous SNV

NM_004333

c.G1552T

p.G518C

32.0

-

Wang2020 T

BRAF

SanDiego_G9P3X

chr7:
140501320-140501320

C

T

exonic

Unknown

nonsynonymous SNV

NM_004333

c.G752A

p.C251Y

19.58

-

Wang2020 T

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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