Variant Results

or

Results for "EPAS1"

Variant Events: 35

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

EPAS1

7-0059-003

chr2:
46561390-46561390

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

EPAS1

AU4079301

chr2:
46620604-46620604

T

C

intergenic

De novo

-

Yuen2017 G

EPAS1

111299

chr2:
46603835-46603835

G

A

exonic

nonsynonymous SNV

NM_001430

c.G1192A

p.E398K

36.0

-

Woodbury-Smith2022 E

EPAS1

AU008505

chr2:
46617380-46617380

C

T

intergenic

De novo

-

Yuen2017 G

EPAS1

ASDFI_974

chr2:
46583448-46583448

C

T

intronic

De novo

-

8.242E-6

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

EPAS1

AU4199303

chr2:
46608778-46608778

C

G

exonic

De novo

nonsynonymous SNV

NM_001430

c.C2089G

p.P697A

15.55

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

EPAS1

14641_p1

chr2:
46603670-46603670

C

T

intronic

De novo

-

1.647E-5

Fu2022 E

EPAS1

SP0054405

chr2:
46583933-46583933

T

G

exonic

De novo

nonsynonymous SNV

NM_001430

c.T440G

p.L147R

26.2

-

Fu2022 E

EPAS1

2-1261-003

chr2:
46652429-46652429

A

ATCC

intergenic

De novo

-

Yuen2017 G

EPAS1

SP0055881

chr2:
46583252-46583252

A

C

intronic

De novo

-

Fu2022 E

EPAS1

1-0826-003

chr2:
46638701-46638701

G

A

intergenic

De novo

-

Yuen2017 G

EPAS1

2-1619-003

chr2:
46538259-46538259

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

EPAS1

AU030804

chr2:
46596629-46596629

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

EPAS1

SP0102208

chr2:
46607615-46607615

C

T

exonic

De novo

nonsynonymous SNV

NM_001430

c.C1804T

p.R602W

14.19

-

Fu2022 E
Trost2022 G
Zhou2022 GE

EPAS1

2-1497-003

chr2:
46523969-46523969

G

A

upstream

De novo

-

Trost2022 G
Yuen2017 G

EPAS1

09C95233

chr2:
46607903-46607903

C

T

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

EPAS1

3-0442-000

chr2:
46565552-46565552

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

EPAS1

35.s1

chr2:
46597010-46597010

G

A

exonic

De novo

nonsynonymous SNV

NM_001430

c.G824A

p.R275H

28.7

9.263E-6

An2014 E

EPAS1

2-1239-003

chr2:
46598623-46598636

GACACACACACACA

GACACACACACA

intronic

De novo

-

Yuen2017 G

EPAS1

2-1127-003

chr2:
46584144-46584144

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

EPAS1

REACH000597

chr2:
46558612-46558612

G

T

intronic

De novo

-

Trost2022 G

EPAS1

4-0082-004

chr2:
46545814-46545814

C

T

intronic

De novo

-

Trost2022 G

EPAS1

2-1546-003

chr2:
46566515-46566515

G

T

intronic

De novo

-

Trost2022 G

EPAS1

4-0062-003

chr2:
46558937-46558938

CA

TG

intronic

De novo

-

Trost2022 G

EPAS1

1-1133-003

chr2:
46533835-46533835

T

C

intronic

De novo

-

Trost2022 G

EPAS1

7-0396-003

chr2:
46524308-46524308

G

A

upstream

De novo

-

Trost2022 G

EPAS1

14641.p1

chr2:
46603670-46603670

C

T

intronic

De novo

-

1.647E-5

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

EPAS1

SSC04351

chr2:
46607706-46607706

G

A

exonic

De novo

nonsynonymous SNV

NM_001430

c.G1895A

p.G632E

21.9

-

Trost2022 G

EPAS1

2-1322-004

chr2:
46606770-46606771

TC

T

intronic

De novo

-

Trost2022 G

EPAS1

12290.p1

chr2:
46607706-46607706

G

A

exonic

De novo

nonsynonymous SNV

NM_001430

c.G1895A

p.G632E

21.9

-

Satterstrom2020 E
Zhou2022 GE

EPAS1

REACH000675

chr2:
46614263-46614263

T

C

downstream

De novo

-

Trost2022 G

EPAS1

7-0094-004

chr2:
46578216-46578216

A

AC

intronic

De novo

-

Trost2022 G

EPAS1

5-0119-003

chr2:
46575958-46575958

A

T

intronic

De novo

-

Trost2022 G

EPAS1

7-0081-003

chr2:
46592161-46592167

GTTTAAC

G

intronic

De novo

-

Trost2022 G

EPAS1

SP0245743

chr2:
46588193-46588193

A

G

exonic

De novo

nonsynonymous SNV

NM_001430

c.A743G

p.H248R

26.5

-

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
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