Variant Results

or

Results for "JARID2"

Variant Events: 41

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

JARID2

1-0436-003

chr6:
15418741-15418741

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

JARID2

DEASD_4037_001

chr6:
15497369-15497369

A

C

exonic

De novo

nonsynonymous SNV

NM_001267040
NM_004973

c.A1397C
c.A1913C

p.Q466P
p.Q638P

23.6

-

Fu2022 E

JARID2

13009.p1

chr6:
15374368-15374368

G

A

exonic

Mosaic, De novo

synonymous SNV

NM_004973

c.G66A

p.P22P

-

2.471E-5

Dou2017 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

JARID2

1-0507-003

chr6:
15473125-15473125

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

JARID2

2-1620-003

chr6:
15303068-15303068

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

JARID2

5-5035-003

chr6:
15328040-15328040

G

T

intronic

De novo

-

Trost2022 G

JARID2

2-0012-003

chr6:
15482802-15482802

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

JARID2

MT_69.3

chr6:
15331204-15331204

G

A

intronic

De novo

-

Trost2022 G

JARID2

3-0380-000

chr6:
15324239-15324239

C

T

intronic

De novo

-

Trost2022 G

JARID2

AU012803

chr6:
15398797-15398797

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

JARID2

SP0118852

chr6:
15501370-15501370

G

GA

exonic

De novo

frameshift insertion

NM_001267040
NM_004973

c.1663dupA
c.2179dupA

p.E554fs
p.E726fs

-

Antaki2022 GE
Fu2022 E
Zhou2022 GE

JARID2

AU023012

chr6:
15326678-15326678

T

C

intronic

De novo

-

Trost2022 G

JARID2

1-0271-004

chr6:
15283542-15283542

G

T

intronic

De novo

-

Trost2022 G

JARID2

1-0271-004

chr6:
15283546-15283546

C

T

intronic

De novo

-

Trost2022 G

JARID2

7-0258-003

chr6:
15260916-15260916

C

T

intronic

De novo

-

Trost2022 G

JARID2

1-0935-003

chr6:
15265974-15265974

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

JARID2

2-1189-003

chr6:
15520618-15520618

A

G

UTR3

De novo

-

Yuen2017 G

JARID2

MSSNG00105-004

chr6:
15273055-15273055

C

A

intronic

De novo

-

Trost2022 G

JARID2

SP0017203

chr6:
15512607-15512607

T

C

exonic

De novo

nonsynonymous SNV

NM_001267040
NM_004973

c.T2605C
c.T3121C

p.F869L
p.F1041L

15.31

-

Fu2022 E
Trost2022 G
Zhou2022 GE

JARID2

1-0337-003

chr6:
15470592-15470604

TAAGTGATTGAGG

CCTCAATCACTTA

intronic

De novo

-

Trost2022 G

JARID2

SP0118837

chr6:
15501370-15501370

G

A

exonic

De novo

synonymous SNV

NM_001267040
NM_004973

c.G1662A
c.G2178A

p.E554E
p.E726E

-

Trost2022 G

JARID2

1-1167-003

chr6:
15431124-15431124

T

C

intronic

De novo

-

Trost2022 G

JARID2

AU4412302

chr6:
15478974-15478974

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

JARID2

13009_p1

chr6:
15374368-15374368

G

A

exonic

De novo

synonymous SNV

NM_004973

c.G66A

p.P22P

-

2.471E-5

Fu2022 E

JARID2

SP0077200

chr6:
15452425-15452425

C

T

intronic

De novo

-

1.665E-5

Fu2022 E
Trost2022 G

JARID2

MT_24.3

chr6:
15465269-15465269

A

ATT

intronic

De novo

-

Trost2022 G

JARID2

4-0064-004

chr6:
15380691-15380693

CTG

C

intronic

De novo

-

Trost2022 G

JARID2

1280012

chr6:
15507337-15507337

T

G

intronic

De novo

-

8.527E-5

Satterstrom2020 E
Trost2022 G

JARID2

REACH000228

chr6:
15430242-15430242

G

A

intronic

De novo

-

Trost2022 G

JARID2

MSSNG00336-004

chr6:
15331604-15331604

C

T

intronic

De novo

-

Trost2022 G

JARID2

2-1409-003

chr6:
15504762-15504762

G

A

exonic

De novo

nonsynonymous SNV

NM_001267040
NM_004973

c.G1964A
c.G2480A

p.R655Q
p.R827Q

36.0

-

Trost2022 G
Yuen2016 G
Yuen2017 G
Zhou2022 GE

JARID2

5-5217-003

chr6:
15349743-15349743

G

A

intronic

De novo

-

Trost2022 G

JARID2

2-0003-004

chr6:
15288578-15288578

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

JARID2

A20

chr6:
15386511-15386511

C

T

intronic

De novo

-

Wu2018 G

JARID2

08C73928

chr6:
15496635-15496635

C

T

exonic

De novo

synonymous SNV

NM_001267040
NM_004973

c.C663T
c.C1179T

p.L221L
p.L393L

-

1.664E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

JARID2

1-0344-003

chr6:
15453948-15453948

A

G

intronic

De novo

-

Yuen2017 G

JARID2

Mahjani2021:118

chr6:
15410598-15410598

T

G

splicing

21.3

-

Mahjani2021 E

JARID2

AU3847302

chr6:
15346568-15346568

C

A

intronic

De novo

-

Yuen2017 G

JARID2

1-0806-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

JARID2

Cukier2014:37994

chr6:
15496930-15496930

C

T

exonic

Unknown

nonsynonymous SNV

NM_001267040
NM_004973

c.C958T
c.C1474T

p.R320C
p.R492C

16.01

0.0087

Cukier2014 E

JARID2

AU061A

chr6:
15517480-15517488

TGATGTACC

T

exonic

De novo

frameshift deletion

NM_001267040
NM_004973

c.3024_3031del
c.3540_3547del

p.L1008fs
p.L1180fs

-

DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

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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