Variant Results

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Results for "TC2N"

Variant Events: 9

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
TC2N	iHART2489	chr14: 92251698-92251698	G	GA	exonic		Paternal	frameshift insertion	NM_001289134 NM_001128595 NM_001128596 NM_152332	c.977dupT c.1169dupT c.1169dupT c.1169dupT	p.F326fs p.F390fs p.F390fs p.F390fs	-	1.0E-4	Ruzzo2019 G
TC2N	1-0496-003	chr14: 92268842-92268842	A	G	intronic		De novo					-	-	Yuen2016 G Yuen2017 G
TC2N	AU3605303	chr14: 92281643-92281643	G	T	intronic		De novo					-	-	Yuen2017 G
TC2N	iHART2490	chr14: 92251698-92251698	G	GA	exonic		Paternal	frameshift insertion	NM_001289134 NM_001128595 NM_001128596 NM_152332	c.977dupT c.1169dupT c.1169dupT c.1169dupT	p.F326fs p.F390fs p.F390fs p.F390fs	-	1.0E-4	Ruzzo2019 G
TC2N	AU2000302	chr14: 92279894-92279894	A	G	intronic		De novo					-	-	Yuen2017 G
TC2N	SP0122570	chr14: 92268709-92268709	G	T	exonic		De novo	nonsynonymous SNV	NM_001128595 NM_001128596 NM_001289134 NM_152332	c.C358A c.C358A c.C358A c.C358A	p.H120N p.H120N p.H120N p.H120N	9.021	-	Fu2022 E
TC2N	2-1210-003	chr14: 92313921-92313921	A	G	intronic		De novo					-	-	Yuen2017 G
TC2N	80001102279	chr14: 92278816-92278816	A	G	exonic		De novo	synonymous SNV	NM_001128595 NM_001128596 NM_001289134 NM_152332	c.T141C c.T141C c.T141C c.T141C	p.T47T p.T47T p.T47T p.T47T	-	-	Fu2022 E Lim2017 E
TC2N	AU2495301	chr14: 92257388-92257388	G	A	intronic		De novo					-	-	Yuen2017 G

Source Variant Information

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Paper Information

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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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