Variant Results

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Results for "COTL1"

Variant Events: 8

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
COTL1	AU038703	chr16: 84611368-84611368	T	A	intronic		De novo					-	-	Yuen2017 G
COTL1	1-0265-003	chr16: 84641515-84641515	G	A	intronic		De novo					-	-	Yuen2017 G
COTL1	AU063004	chr16: 84608282-84608282	C	G	intronic		De novo					-	-	Yuen2017 G
COTL1	AU047704	chr16: 84601498-84601498	G	A	intronic		De novo					-	-	Yuen2017 G
COTL1	11176.p1	chr16: 84651172-84651172	T	G	exonic		Mosaic	nonsynonymous SNV	NM_021149	c.A95C	p.D32A	17.8	0.0018	Dou2017 E
COTL1	AU065807	chr16: 84616858-84616858	G	C	intronic		De novo					-	-	Yuen2017 G
COTL1	AU4487302	chr16: 84628871-84628871	T	C	intronic		De novo					-	-	Yuen2017 G
COTL1	1-0265-004	chr16: 84641515-84641515	G	A	intronic		De novo					-	-	Yuen2017 G

Source Variant Information

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Paper Information

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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.
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