Variant Results

or

Results for "JAZF1"

Variant Events: 44

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

JAZF1

1-0683-003

chr7:
27869976-27869988

ATTTTAAAATAGT

A

downstream

De novo

-

Trost2022 G
Yuen2017 G

JAZF1

AU0146301

chr7:
28013218-28013218

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

JAZF1

AU055603

chr7:
27937739-27937739

C

T

intronic

De novo

-

Trost2022 G

JAZF1

2-1817-003

chr7:
27958512-27958512

T

C

intronic

De novo

-

Trost2022 G

JAZF1

AU2100302

chr7:
28189289-28189289

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

JAZF1

1-0928-003

chr7:
27923866-27923866

C

T

intronic

De novo

-

Trost2022 G

JAZF1

2-1283-003

chr7:
27936738-27936738

C

T

intronic

De novo

-

Trost2022 G

JAZF1

MSSNG00417-003

chr7:
27902741-27902741

T

G

intronic

De novo

-

Trost2022 G

JAZF1

7-0444-003

chr7:
27912052-27912052

A

G

intronic

De novo

-

Trost2022 G

JAZF1

2-1702-003

chr7:
27914707-27914707

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

JAZF1

1-0336-004

chr7:
27883556-27883560

CATTT

AAATGAGATAA

intronic

De novo

-

Trost2022 G

JAZF1

REACH000089

chr7:
28021025-28021025

G

C

intronic

De novo

-

Trost2022 G

JAZF1

1-0700-004

chr7:
28023919-28023919

A

C

intronic

De novo

-

Trost2022 G

JAZF1

4-0049-003

chr7:
27998644-27998644

T

G

intronic

De novo

-

Trost2022 G

JAZF1

2-1066-003

chr7:
28007499-28007502

CCCA

C

intronic

De novo

-

Trost2022 G

JAZF1

2-1398-004

chr7:
28140334-28140334

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

JAZF1

7-0458-003

chr7:
27983141-27983141

C

T

intronic

De novo

-

Trost2022 G

JAZF1

MSSNG00356-003

chr7:
27987879-27987879

T

C

intronic

De novo

-

Trost2022 G

JAZF1

2-1091-003

chr7:
27979976-27979976

T

C

intronic

De novo

-

Trost2022 G

JAZF1

MT_89.3

chr7:
27981901-27981901

C

T

intronic

De novo

-

Trost2022 G

JAZF1

2-1723-003

chr7:
28111319-28111320

AT

GA

intronic

De novo

-

Trost2022 G

JAZF1

2-0197-004

chr7:
28115814-28115815

CA

TG

intronic

De novo

-

Trost2022 G

JAZF1

AU4426303

chr7:
28090763-28090763

A

C

intronic

De novo

-

Trost2022 G

JAZF1

2-1481-003

chr7:
28101913-28101913

C

A

intronic

De novo

-

Trost2022 G

JAZF1

MSSNG00359-004

chr7:
28061323-28061323

C

G

intronic

De novo

-

Trost2022 G

JAZF1

3-0007-000

chr7:
28072326-28072326

G

A

intronic

De novo

-

Trost2022 G

JAZF1

7-0286-003A

chr7:
28024613-28024613

G

C

intronic

De novo

-

Trost2022 G

JAZF1

1-0649-003

chr7:
28039973-28039973

G

A

intronic

De novo

-

Trost2022 G

JAZF1

1-0099-003

chr7:
28154873-28154873

G

C

intronic

De novo

-

Yuen2017 G

JAZF1

AU3371305

chr7:
28071918-28071918

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

JAZF1

SP0104656

chr7:
28031552-28031552

T

C

exonic

De novo

nonsynonymous SNV

NM_175061

c.A164G

p.Y55C

14.36

-

Fu2022 E
Zhou2022 GE

JAZF1

3-0802-000

chr7:
28210324-28210324

G

A

intronic

De novo

-

Trost2022 G

JAZF1

1-0336-004

chr7:
27872111-27872111

T

G

UTR3

De novo

-

Trost2022 G
Yuen2017 G

JAZF1

AU047704

chr7:
28057484-28057484

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

JAZF1

4-0062-003

chr7:
28199302-28199303

TG

CC

intronic

De novo

-

Trost2022 G

JAZF1

14-600

chr7:
28199929-28199929

T

C

intronic

De novo

-

Trost2022 G

JAZF1

13515.p1

chr7:
27961853-27961853

G

A

intronic

De novo

-

Turner2016 G

JAZF1

3-0432-000

chr7:
28170629-28170629

G

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

JAZF1

5-0014-003

chr7:
27887946-27887951

CTTGAT

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

JAZF1

5-0103-003

chr7:
28085383-28085383

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

JAZF1

1-0051-005

chr7:
28100031-28100031

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

JAZF1

1-0346-004

chr7:
28116199-28116199

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

JAZF1

7-0168-003

chr7:
28213225-28213225

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

JAZF1

7-0191-003

chr7:
28200953-28200953

A

G

intronic

De novo

-

Trost2022 G
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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