Variant Results

or

Results for "MIR548XHG"

Variant Events: 93

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

MIR548XHG

1-0032-003

chr21:
20426822-20426822

A

AGAGTCTAGTTTAATG

intergenic

De novo

-

Yuen2017 G

MIR548XHG

2-0305-004

chr21:
20343245-20343245

G

A

intergenic

De novo

-

Yuen2017 G

MIR548XHG

AU2427301

chr21:
21589631-21589631

G

T

intergenic

De novo

-

Yuen2017 G

MIR548XHG

1-0405-003

chr21:
20038139-20038139

T

C

ncRNA_intronic

De novo

-

Yuen2017 G

MIR548XHG

AU4426303

chr21:
22112938-22112938

T

G

intergenic

De novo

-

Yuen2017 G

MIR548XHG

1-0674-004

chr21:
20835674-20835674

G

A

intergenic

De novo

-

Yuen2017 G

MIR548XHG

1-0674-004

chr21:
20828941-20828941

A

T

intergenic

De novo

-

Yuen2017 G

MIR548XHG

11378.p1

chr21:
21511218-21511218

A

G

intergenic

De novo

-

Werling2018 G

MIR548XHG

1-0565-004

chr21:
21347258-21347258

C

T

intergenic

De novo

-

Yuen2017 G

MIR548XHG

AU1894304

chr21:
20832682-20832682

A

G

intergenic

De novo

-

Yuen2017 G

MIR548XHG

AU4029301

chr21:
21400443-21400443

G

A

intergenic

De novo

-

Yuen2017 G

MIR548XHG

2-1459-003

chr21:
21938781-21938781

A

G

intergenic

De novo

-

Yuen2017 G

MIR548XHG

5-0137-003

chr21:
20324407-20324407

A

G

intergenic

De novo

-

Yuen2017 G

MIR548XHG

11089.p1

chr21:
20177324-20177324

A

G

intergenic

De novo

-

Turner2016 G

MIR548XHG

1-0272-004

chr21:
21313914-21313914

C

G

intergenic

De novo

-

Yuen2017 G

MIR548XHG

1-0595-004

chr21:
20079295-20079295

C

CCT

ncRNA_intronic

De novo

-

Yuen2017 G

MIR548XHG

2-1308-003

chr21:
21144662-21144662

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MIR548XHG

AU079605

chr21:
20822911-20822911

A

C

intergenic

De novo

-

Yuen2017 G

MIR548XHG

AU4260303

chr21:
20437008-20437008

A

C

intergenic

De novo

-

Yuen2017 G

MIR548XHG

AU2129303

chr21:
21320074-21320074

A

G

intergenic

De novo

-

Yuen2017 G

MIR548XHG

13874.p1

chr21:
21476823-21476823

A

G

intergenic

De novo

-

Turner2016 G

MIR548XHG

2-1411-003

chr21:
21270526-21270526

A

G

intergenic

De novo

-

Yuen2017 G

MIR548XHG

5-0109-003

chr21:
20874762-20874762

C

T

intergenic

De novo

-

Yuen2017 G

MIR548XHG

AU2117302

chr21:
21751867-21751867

C

G

intergenic

De novo

-

Yuen2017 G

MIR548XHG

1-0158-012

chr21:
21515137-21515137

C

G

intergenic

De novo

-

Yuen2017 G

MIR548XHG

2-1267-003

chr21:
21841477-21841480

AATG

A

intergenic

De novo

-

Yuen2017 G

MIR548XHG

AU2756306

chr21:
21919525-21919525

C

G

intergenic

De novo

-

Yuen2017 G

MIR548XHG

2-1646-003

chr21:
22010739-22010739

T

A

intergenic

De novo

-

Yuen2017 G

MIR548XHG

AU3506303

chr21:
21980157-21980157

G

A

intergenic

De novo

-

Yuen2017 G

MIR548XHG

AU2162302

chr21:
22090920-22090920

G

A

intergenic

De novo

-

Yuen2017 G

MIR548XHG

1-0201-005

chr21:
20467400-20467400

C

A

intergenic

De novo

-

Yuen2017 G

MIR548XHG

AU3175303

chr21:
21889864-21889864

C

T

intergenic

De novo

-

Yuen2017 G

MIR548XHG

AU3911301

chr21:
21271663-21271663

G

A

intergenic

De novo

-

Yuen2017 G

MIR548XHG

AU046706

chr21:
22089110-22089110

C

A

intergenic

De novo

-

Yuen2017 G

MIR548XHG

2-1169-003

chr21:
21723865-21723865

A

G

intergenic

De novo

-

Yuen2017 G

MIR548XHG

1-0197-003

chr21:
20265560-20265560

T

C

intergenic

De novo

-

Yuen2017 G

MIR548XHG

1-0051-005

chr21:
20458244-20458244

T

TCTACTAAATGTC

intergenic

De novo

-

Yuen2017 G

MIR548XHG

1-0661-003

chr21:
20261890-20261891

TA

TAA

intergenic

De novo

-

Yuen2017 G

MIR548XHG

2-1605-004

chr21:
22056547-22056547

T

A

intergenic

De novo

-

Yuen2017 G

MIR548XHG

AU3888302

chr21:
21816907-21816914

CTGTGTGT

CTGTGT

intergenic

De novo

-

Yuen2017 G

MIR548XHG

1-0224-004

chr21:
21284065-21284065

A

G

intergenic

De novo

-

Yuen2017 G

MIR548XHG

1-0224-004

chr21:
21089205-21089205

T

A

intergenic

De novo

-

Yuen2017 G

MIR548XHG

AU006804

chr21:
21991707-21991707

A

T

intergenic

De novo

-

Yuen2017 G

MIR548XHG

AU050403

chr21:
20501357-20501357

G

A

intergenic

De novo

-

Yuen2017 G

MIR548XHG

AU011903

chr21:
20104237-20104237

T

G

ncRNA_intronic

De novo

-

Yuen2017 G

MIR548XHG

1-0208-003

chr21:
20407280-20407280

T

C

intergenic

De novo

-

Yuen2017 G

MIR548XHG

1-0756-004

chr21:
21061423-21061423

G

A

intergenic

De novo

-

Yuen2017 G

MIR548XHG

AU4056301

chr21:
21874518-21874518

C

T

intergenic

De novo

-

Yuen2017 G

MIR548XHG

AU4433301

chr21:
20246296-20246296

C

A

intergenic

De novo

-

Yuen2017 G

MIR548XHG

1-0496-003

chr21:
21683611-21683611

C

T

intergenic

De novo

-

Yuen2016 G

MIR548XHG

7-0192-003

chr21:
20803791-20803791

T

A

intergenic

De novo

-

Yuen2017 G

MIR548XHG

2-0242-005

chr21:
21596461-21596461

C

A

intergenic

De novo

-

Yuen2017 G

MIR548XHG

1-0406-003

chr21:
20944131-20944131

G

C

intergenic

De novo

-

Yuen2017 G

MIR548XHG

2-1242-003

chr21:
20429707-20429707

A

G

intergenic

De novo

-

Yuen2016 G

MIR548XHG

AU078503

chr21:
20463239-20463239

C

T

intergenic

De novo

-

Yuen2017 G

MIR548XHG

AU4336301

chr21:
20803185-20803185

A

C

intergenic

De novo

-

Yuen2017 G

MIR548XHG

1-0119-004

chr21:
21595366-21595366

T

G

intergenic

De novo

-

Yuen2017 G

MIR548XHG

AU3997301

chr21:
20727506-20727506

T

C

intergenic

De novo

-

Yuen2017 G

MIR548XHG

AU2433303

chr21:
21449551-21449551

T

C

intergenic

De novo

-

Yuen2017 G

MIR548XHG

AU3052301

chr21:
21477196-21477196

G

A

intergenic

De novo

-

Yuen2017 G

MIR548XHG

2-1339-003

chr21:
20307555-20307555

C

A

intergenic

De novo

-

Yuen2017 G

MIR548XHG

3-0140-000

chr21:
20202124-20202124

A

G

intergenic

De novo

-

Yuen2017 G

MIR548XHG

2-0145-004

chr21:
21739775-21739775

G

A

intergenic

De novo

-

Yuen2017 G

MIR548XHG

AU3801301

chr21:
21637467-21637467

C

T

intergenic

De novo

-

Yuen2017 G

MIR548XHG

7-0191-003

chr21:
21830714-21830714

A

G

intergenic

De novo

-

Yuen2017 G

MIR548XHG

AU045512

chr21:
21347394-21347394

A

G

intergenic

De novo

-

Yuen2017 G

MIR548XHG

1-0551-003

chr21:
20608694-20608694

G

A

intergenic

De novo

-

Yuen2017 G

MIR548XHG

2-0132-004

chr21:
21233952-21233952

A

G

intergenic

De novo

-

Yuen2017 G

MIR548XHG

1-0162-004

chr21:
20248258-20248258

C

T

intergenic

De novo

-

Yuen2017 G

MIR548XHG

5-0131-003

chr21:
21694718-21694718

G

A

intergenic

De novo

-

Yuen2017 G

MIR548XHG

AU4149301

chr21:
20653825-20653825

T

C

intergenic

De novo

-

Yuen2017 G

MIR548XHG

AU057404

chr21:
21830810-21830810

A

G

intergenic

De novo

-

Yuen2017 G

MIR548XHG

AU056604

chr21:
21589200-21589200

A

G

intergenic

De novo

-

Yuen2017 G

MIR548XHG

AU3052303

chr21:
20959740-20959740

G

A

intergenic

De novo

-

Yuen2017 G

MIR548XHG

1-0460-003

chr21:
20356046-20356046

C

G

intergenic

De novo

-

Yuen2017 G

MIR548XHG

5-0050-004

chr21:
20030219-20030219

C

CA

ncRNA_intronic

De novo

-

Yuen2017 G

MIR548XHG

AU4237301

chr21:
21547402-21547402

C

G

intergenic

De novo

-

Yuen2017 G

MIR548XHG

2-0006-004

chr21:
21480257-21480257

T

C

intergenic

De novo

-

Yuen2017 G

MIR548XHG

AU3371302

chr21:
20493506-20493506

T

C

intergenic

De novo

-

Yuen2017 G

MIR548XHG

A11

chr21:
20604439-20604439

C

T

intergenic

De novo

-

Wu2018 G

MIR548XHG

1-0073-003

chr21:
22062352-22062352

G

C

intergenic

De novo

-

Yuen2017 G

MIR548XHG

2-1094-005

chr21:
20460815-20460815

C

T

intergenic

De novo

-

Yuen2017 G

MIR548XHG

AU2000302

chr21:
21739121-21739121

C

T

intergenic

De novo

-

Yuen2017 G

MIR548XHG

5-0004-003

chr21:
20948462-20948462

T

TCTAGACTG

intergenic

De novo

-

Yuen2017 G

MIR548XHG

AU4067303

chr21:
20542497-20542497

G

C

intergenic

De novo

-

Yuen2017 G

MIR548XHG

AU3911302

chr21:
21878115-21878115

G

A

intergenic

De novo

-

Yuen2017 G

MIR548XHG

1-0986-003

chr21:
20499961-20499961

C

T

intergenic

De novo

-

Yuen2017 G

MIR548XHG

2-1741-003

chr21:
21590266-21590266

C

T

intergenic

De novo

-

Yuen2017 G

MIR548XHG

AU046707

chr21:
22089110-22089110

C

A

intergenic

De novo

-

Yuen2017 G

MIR548XHG

AU1860302

chr21:
21157582-21157582

C

T

intergenic

De novo

-

Yuen2017 G

MIR548XHG

2-0143-004

chr21:
21084812-21084812

C

G

intergenic

De novo

-

Yuen2017 G

MIR548XHG

1-0244-003

chr21:
19940579-19940579

T

C

ncRNA_intronic

De novo

-

Yuen2017 G

MIR548XHG

1-0513-003

chr21:
20377052-20377052

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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