Variant Results

or

Results for "COBL"

Variant Events: 127

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

COBL

1-0520-003

chr7:
52418383-52418386

AAGA

AA

intergenic

De novo

-

Yuen2017 G

COBL

1-0175-003

chr7:
51557163-51557163

C

T

intergenic

De novo

-

Yuen2017 G

COBL

1-0402-004

chr7:
52736170-52736170

C

T

intergenic

De novo

-

Yuen2017 G

COBL

1-0274-003

chr7:
52275562-52275562

A

AC

intergenic

De novo

-

Yuen2017 G

COBL

AU058104

chr7:
52368134-52368134

G

A

intergenic

De novo

-

Yuen2017 G

COBL

PN400383

chr7:
51132922-51132923

TA

T

intronic

Unknown

-

9.0E-4

Leblond2019 E

COBL

12778.p1

chr7:
52033289-52033289

G

A

intergenic

De novo

-

Wilfert2021 G

COBL

1-0522-003

chr7:
51754985-51754985

A

G

intergenic

De novo

-

Yuen2017 G

COBL

AU3648301

chr7:
51855539-51855539

A

G

intergenic

De novo

-

Yuen2017 G

COBL

2-1526-003

chr7:
52560597-52560597

C

T

intergenic

De novo

-

Yuen2017 G

COBL

1-0352-005

chr7:
51130152-51130152

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

COBL

2-1315-003

chr7:
51535029-51535029

G

A

intergenic

De novo

-

Yuen2017 G

COBL

AU2019302

chr7:
52259956-52259956

T

C

intergenic

De novo

-

Yuen2017 G

COBL

2-0270-004

chr7:
52265722-52265722

T

C

intergenic

De novo

-

Yuen2017 G

COBL

2-1250-003

chr7:
52830511-52830511

G

C

intergenic

De novo

-

Yuen2017 G

COBL

2-1594-003

chr7:
51908410-51908410

T

C

intergenic

De novo

-

Yuen2017 G

COBL

2-1250-003

chr7:
52833843-52833843

C

T

intergenic

De novo

-

Yuen2017 G

COBL

AU070007

chr7:
52539465-52539465

G

A

intergenic

De novo

-

Yuen2017 G

COBL

UK10K_SKUSE5080183

chr7:
51287624-51287624

C

G

exonic

De novo

nonsynonymous SNV

NM_001287436
NM_001287438
NM_015198

c.G59C
c.G59C
c.G59C

p.R20P
p.R20P
p.R20P

21.4

0.0023

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

COBL

AU3263301

chr7:
52531085-52531085

G

A

intergenic

De novo

-

Yuen2017 G

COBL

A19

chr7:
53032186-53032186

A

T

intergenic

De novo

-

Wu2018 G

COBL

1-0433-004

chr7:
51196566-51196566

C

CCTGCTTGTGCCCTTA

intronic

De novo

-

Trost2022 G
Yuen2017 G

COBL

1-1063-003

chr7:
51096632-51096632

C

T

exonic

De novo

nonsynonymous SNV

NM_015198
NM_001287436

c.G2161A
c.G2332A

p.D721N
p.D778N

21.7

1.0E-4

Trost2022 G
Zhou2022 GE

COBL

AU4013301

chr7:
52107010-52107010

A

G

intergenic

De novo

-

Yuen2017 G

COBL

5-0095-003

chr7:
52084448-52084448

G

A

intergenic

De novo

-

Yuen2017 G

COBL

2-1212-003

chr7:
52788921-52788921

C

T

intergenic

De novo

-

Yuen2017 G

COBL

2-1620-003

chr7:
52338807-52338807

C

A

intergenic

De novo

-

Yuen2017 G

COBL

AU3918301

chr7:
52145273-52145273

A

G

intergenic

De novo

-

Yuen2017 G

COBL

1-0142-005

chr7:
52561338-52561338

A

G

intergenic

De novo

-

Yuen2017 G

COBL

AU3649304

chr7:
52632631-52632631

G

A

intergenic

De novo

-

Yuen2017 G

COBL

PN400371

chr7:
51132922-51132923

TA

T

intronic

Unknown

-

9.0E-4

Leblond2019 E

COBL

MT_38.3

chr7:
51208730-51208730

T

A

intronic

De novo

-

Trost2022 G

COBL

1-0960-003

chr7:
51216713-51216713

G

A

intronic

De novo

-

Trost2022 G

COBL

AU3900302

chr7:
51724977-51724977

A

G

intergenic

De novo

-

Yuen2017 G

COBL

REACH000001

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

COBL

1-0859-003

chr7:
51185447-51185447

C

G

intronic

De novo

-

Trost2022 G

COBL

4-0054-003

chr7:
51143561-51143561

T

C

intronic

De novo

-

Trost2022 G

COBL

5-5146-003

chr7:
51279580-51279580

C

T

intronic

De novo

-

Trost2022 G

COBL

AU2770301

chr7:
51291768-51291768

A

G

intronic

De novo

-

Trost2022 G

COBL

1-0859-003

chr7:
51268703-51268703

C

T

intronic

De novo

-

Trost2022 G

COBL

4-0074-003

chr7:
51271083-51271087

CGGGA

TAGAG

intronic

De novo

-

Trost2022 G

COBL

1-0744-003

chr7:
51610981-51610981

C

A

intergenic

De novo

-

Yuen2017 G

COBL

5-0116-003

chr7:
51902660-51902660

A

G

intergenic

De novo

-

Yuen2017 G

COBL

1-1238-003

chr7:
51266052-51266052

G

C

intronic

De novo

-

Trost2022 G

COBL

2-1292-003

chr7:
51262683-51262683

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

COBL

1-1024-003

chr7:
51268474-51268474

A

G

intronic

De novo

-

Trost2022 G

COBL

4-0062-003

chr7:
51242945-51242946

AC

TT

intronic

De novo

-

Trost2022 G

COBL

5-5132-003

chr7:
51260317-51260317

C

A

intronic

De novo

-

Trost2022 G

COBL

1-0175-004

chr7:
51557163-51557163

C

T

intergenic

De novo

-

Yuen2017 G

COBL

2-1368-003

chr7:
51481392-51481392

T

A

intergenic

De novo

-

Yuen2017 G

COBL

AU3912302

chr7:
52369860-52369860

G

A

intergenic

De novo

-

Yuen2017 G

COBL

3-0095-000

chr7:
51338046-51338046

C

A

intronic

De novo

-

Trost2022 G

COBL

1-0303-003

chr7:
51735543-51735543

A

G

intergenic

De novo

-

Yuen2017 G

COBL

AU2794301

chr7:
51318712-51318712

T

C

intronic

De novo

-

Trost2022 G

COBL

3-0095-000

chr7:
51338030-51338030

A

G

intronic

De novo

-

Trost2022 G

COBL

1-0414-005

chr7:
51291927-51291927

C

A

intronic

De novo

-

Trost2022 G

COBL

MT_161.3

chr7:
51301591-51301595

GTTAT

G

intronic

De novo

-

Trost2022 G

COBL

1-0604-003

chr7:
52310436-52310436

T

C

intergenic

De novo

-

Yuen2017 G

COBL

1-0352-003

chr7:
51130152-51130152

C

T

intronic

De novo

-

Yuen2016 G

COBL

A16

chr7:
51568113-51568113

T

G

intergenic

De novo

-

Wu2018 G

COBL

5-0077-004

chr7:
52328238-52328242

TCTCC

T

intergenic

De novo

-

Yuen2017 G

COBL

2-1258-003

chr7:
51733001-51733001

A

G

intergenic

De novo

-

Yuen2017 G

COBL

1-0534-003

chr7:
52439579-52439579

C

T

intergenic

De novo

-

Yuen2017 G

COBL

AU4056301

chr7:
51119288-51119288

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

COBL

1-0296-004

chr7:
52045600-52045600

C

T

intergenic

De novo

-

Yuen2017 G

COBL

11572.p1

chr7:
51822954-51822954

G

A

intergenic

De novo

-

Turner2016 G

COBL

AU4079302

chr7:
52301577-52301577

T

A

intergenic

De novo

-

Yuen2017 G

COBL

12449.p1

chr7:
52468082-52468082

G

A

intergenic

De novo

-

Turner2016 G

COBL

A2

chr7:
51930694-51930694

C

A

intergenic

De novo

-

Wu2018 G

COBL

AU055004

chr7:
51958028-51958028

C

T

intergenic

De novo

-

Yuen2017 G

COBL

AU036203

chr7:
51357265-51357265

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

COBL

2-1577-003

chr7:
52249826-52249826

C

G

intergenic

De novo

-

Yuen2017 G

COBL

7-0161-003

chr7:
51957577-51957577

C

T

intergenic

De novo

-

Yuen2017 G

COBL

2-1359-003

chr7:
52313607-52313607

G

A

intergenic

De novo

-

Yuen2017 G

COBL

7-0249-003

chr7:
51863891-51863891

C

T

intergenic

De novo

-

Yuen2017 G

COBL

2-0202-003

chr7:
51911804-51911807

TGAA

T

intergenic

De novo

-

Yuen2017 G

COBL

AU3849303

chr7:
51741197-51741197

A

C

intergenic

De novo

-

Yuen2017 G

COBL

2-1368-003

chr7:
52308763-52308763

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

COBL

2-1368-003

chr7:
52732898-52732898

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

COBL

2-1434-003

chr7:
52706974-52706974

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

COBL

2-1561-003

chr7:
51101710-51101710

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

COBL

1-0079-003

chr7:
52507939-52507939

G

C

intergenic

De novo

-

Yuen2017 G

COBL

1-0508-003

chr7:
51743487-51743487

A

G

intergenic

De novo

-

Yuen2017 G

COBL

1-0193-003

chr7:
51115207-51115207

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

COBL

AU073005

chr7:
51868407-51868407

C

T

intergenic

De novo

-

Yuen2017 G

COBL

7-0133-003

chr7:
51336617-51336617

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

COBL

7-0197-003

chr7:
52615117-52615117

C

T

intergenic

De novo

-

Yuen2017 G

COBL

AU047703

chr7:
52475705-52475705

T

G

intergenic

De novo

-

Yuen2017 G

COBL

2-1382-003

chr7:
51252122-51252122

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

COBL

2-0297-003

chr7:
51234443-51234443

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

COBL

5-0088-003

chr7:
52653417-52653417

G

C

intergenic

De novo

-

Yuen2017 G

COBL

AU3786301

chr7:
51118348-51118348

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

COBL

AU3720302

Complex Event; expand row to view variants

De novo

-

Yuen2017 G
Yuen2017 G

COBL

2-0310-003

chr7:
52785814-52785814

A

G

intergenic

De novo

-

Yuen2017 G

COBL

AU053503

chr7:
52974810-52974810

C

G

intergenic

De novo

-

Yuen2017 G

COBL

AU4012302

chr7:
51182983-51182983

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

COBL

1-0563-003

chr7:
51529207-51529207

G

T

intergenic

De novo

-

Yuen2017 G

COBL

2-1314-003

chr7:
52204300-52204300

G

A

intergenic

De novo

-

Yuen2016 G

COBL

ASC_11432-1

chr7:
51085214-51085214

G

A

UTR3

De novo

-

Fu2022 E

COBL

14028_p1

chr7:
51096116-51096116

C

T

exonic

De novo

nonsynonymous SNV

NM_015198
NM_001287436

c.G2677A
c.G2848A

p.E893K
p.E950K

16.45

1.649E-5

Fu2022 E

COBL

2-1456-003

chr7:
52088523-52088523

C

T

intergenic

De novo

-

Yuen2017 G

COBL

7-0251-003

chr7:
52044763-52044777

CATATATATATATAT

CATATATATATAT

intergenic

De novo

-

Yuen2017 G

COBL

1-0197-004

chr7:
52215346-52215346

C

T

intergenic

De novo

-

Yuen2017 G

COBL

AU3858302

chr7:
52072720-52072720

G

T

intergenic

De novo

-

Yuen2017 G

COBL

1-0153-005

chr7:
52665549-52665549

G

A

intergenic

De novo

-

Yuen2017 G

COBL

AU4463303

chr7:
51336599-51336599

C

G

intronic

De novo

-

Yuen2017 G

COBL

1-0225-003

chr7:
51708244-51708247

CTTT

CTTTTT

intergenic

De novo

-

Yuen2017 G

COBL

1-0433-003

chr7:
51196566-51196566

C

CCTGCTTGTGCCCTTA

intronic

De novo

-

Trost2022 G
Yuen2017 G

COBL

1-0329-004

chr7:
52122540-52122540

T

TGAAAAAAAAAAAAAAAAGAAAA

intergenic

De novo

-

Yuen2017 G

COBL

AU3190305

chr7:
53006210-53006210

A

T

intergenic

De novo

-

Yuen2017 G

COBL

1-0054-003

chr7:
53011113-53011113

A

G

intergenic

De novo

-

Yuen2017 G

COBL

2-1210-003

chr7:
52642915-52642915

A

G

intergenic

De novo

-

Yuen2017 G

COBL

1-0201-005

chr7:
53011095-53011095

C

G

intergenic

De novo

-

Yuen2017 G

COBL

2-0022-004

chr7:
52815603-52815606

CAAA

CA

intergenic

De novo

-

Yuen2017 G

COBL

14028.p1

chr7:
51096116-51096116

C

T

exonic

De novo

nonsynonymous SNV

NM_015198
NM_001287436

c.G2677A
c.G2848A

p.E893K
p.E950K

16.45

1.649E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G

COBL

SP0059274

chr7:
51096348-51096348

C

T

exonic

De novo

synonymous SNV

NM_015198
NM_001287436

c.G2445A
c.G2616A

p.S815S
p.S872S

4.689

1.0E-4

Fu2022 E
Trost2022 G
Zhou2022 GE

COBL

3-0216-000

chr7:
52802573-52802573

A

G

intergenic

De novo

-

Yuen2017 G

COBL

1-0232-004

chr7:
51987251-51987253

CTA

C

intergenic

De novo

-

Yuen2017 G

COBL

1-0467-005

chr7:
52709858-52709862

CCTTA

C

intergenic

De novo

-

Yuen2017 G

COBL

2-1308-003

chr7:
51275740-51275740

G

A

intronic

De novo

-

Yuen2017 G

COBL

AU2950302

chr7:
52211479-52211479

T

C

intergenic

De novo

-

Yuen2017 G

COBL

2-1120-003

chr7:
53011991-53011991

T

C

intergenic

De novo

-

Yuen2017 G

COBL

AU031004

chr7:
51667668-51667668

C

T

intergenic

De novo

-

Yuen2017 G

COBL

2-1267-003

chr7:
51528966-51528966

A

C

intergenic

De novo

-

Yuen2017 G

COBL

AU4211304

chr7:
51492612-51492612

A

G

intergenic

De novo

-

Yuen2017 G

COBL

5-0015-003

chr7:
51509248-51509248

T

C

intergenic

De novo

-

Yuen2017 G

COBL

1-0520-003

chr7:
52900474-52900474

T

C

intergenic

De novo

-

Yuen2016 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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