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geneid	100287205
ensemblid	ENSG00000227551.1
hgncid	44440
symbol	USP17L12
name	ubiquitin specific peptidase 17 like family member 12
refseq_nuc	NM_001256853.1
refseq_prot	NP_001243782.1
ensembl_nuc	ENST00000415041.1
ensembl_prot	ENSP00000389443.1
mane_status	MANE Select
chr	chr4
start	9220152
end	9221744
strand	+
ver	v1.2
region	chr4:9220152-9221744
region5000	chr4:9215152-9226744
regionname0	USP17L12_chr4_9220152_9221744
regionname5000	USP17L12_chr4_9215152_9226744

ahapid	grch38/ chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	alen	total	AFR	AMR	EAS	EUR	SAS	JPT	regionname	genename	aa	chr	start	end
a0000	0/0	0	1	0	0	1	0	0	0	USP17L12_chr4_9215152_9226744	USP17L12	copy fasta	chr4	9215152	9226744
a0001	0/0	530	3	0	1	2	0	0	1	USP17L12_chr4_9215152_9226744	USP17L12	copy fasta	chr4	9215152	9226744
a0002	0/0	530	2	0	1	1	0	0	1	USP17L12_chr4_9215152_9226744	USP17L12	copy fasta	chr4	9215152	9226744

chapid	grch38/ chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	clen	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	cseq	chr	start	end
c0001	0/0	1593	3	0	1	2	0	0	USP17L12_chr4_9215152_9226744	USP17L12	copy fasta	chr4	9215152	9226744
c0002	0/0	1593	2	0	1	1	0	0	USP17L12_chr4_9215152_9226744	USP17L12	copy fasta	chr4	9215152	9226744
c0003	0/0	1593	1	0	0	1	0	0	USP17L12_chr4_9215152_9226744	USP17L12	copy fasta	chr4	9215152	9226744

thapid	grch38 chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	tlen	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	tseq	chr	start	end

ghapid	grch38/ chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	chr	start	end
g0000	0/0	6	0	2	4	0	0	USP17L12_chr4_9215152_9226744	USP17L12	chr4	9215152	9226744

achapid	grch38/ chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	clen	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	cseq	chr	start	end
a0000c0003	0/0	1593	1	0	0	1	0	0	USP17L12_chr4_9215152_9226744	USP17L12	copy fasta	chr4	9215152	9226744
a0001c0001	0/0	1593	3	0	1	2	0	0	USP17L12_chr4_9215152_9226744	USP17L12	copy fasta	chr4	9215152	9226744
a0002c0002	0/0	1593	2	0	1	1	0	0	USP17L12_chr4_9215152_9226744	USP17L12	copy fasta	chr4	9215152	9226744

acthapid	grch38 chm13v2	tlen	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	tseq	chr	start	end
a0000c0003t0000	0/0	1593	1	0	0	1	0	0	USP17L12_chr4_9215152_9226744	USP17L12	copy fasta	chr4	9215152	9226744
a0001c0001t0000	0/0	1593	3	0	1	2	0	0	USP17L12_chr4_9215152_9226744	USP17L12	copy fasta	chr4	9215152	9226744
a0002c0002t0000	0/0	1593	2	0	1	1	0	0	USP17L12_chr4_9215152_9226744	USP17L12	copy fasta	chr4	9215152	9226744

actghapid	grch38/ chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	chr	start	end
a0000c0003t0000g0000	0/0	1	0	0	1	0	0	USP17L12_chr4_9215152_9226744	USP17L12	chr4	9215152	9226744
a0001c0001t0000g0000	0/0	3	0	1	2	0	0	USP17L12_chr4_9215152_9226744	USP17L12	chr4	9215152	9226744
a0002c0002t0000g0000	0/0	2	0	1	1	0	0	USP17L12_chr4_9215152_9226744	USP17L12	chr4	9215152	9226744

sampleid	ID haplotypeid	ahapid	chapid	thapid	ghapid	gpopname	popname	regionname	genename	chr	start	end
HG02056	hp1	a0001	c0001	t0000	g0000	EAS	KHV	USP17L12_chr4_9215152_9226744	USP17L12	chr4	9215152	9226744
HG02056	hp2	a0000	c0003	t0000	g0000	EAS	KHV	USP17L12_chr4_9215152_9226744	USP17L12	chr4	9215152	9226744
HG02148	hp1	a0001	c0001	t0000	g0000	AMR	PEL	USP17L12_chr4_9215152_9226744	USP17L12	chr4	9215152	9226744
HG02148	hp2	a0002	c0002	t0000	g0000	AMR	PEL	USP17L12_chr4_9215152_9226744	USP17L12	chr4	9215152	9226744
NA19004	hp1	a0001	c0001	t0000	g0000	EAS	JPT	USP17L12_chr4_9215152_9226744	USP17L12	chr4	9215152	9226744
NA19004	hp2	a0002	c0002	t0000	g0000	EAS	JPT	USP17L12_chr4_9215152_9226744	USP17L12	chr4	9215152	9226744

chr:pos	ref	alt	# # of ahapid:amino-acid(protein) level	ahapids	# # of haplotypeids	haplotypeids	annotation	impact	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	pos
chr4:9220160	A A	C C	2	a0000 a0001 a0000 a0001	4	HG02056.hp1 HG02056.hp2 HG02148.hp1 others(1): Show HG02056.hp1 HG02056.hp2 HG02148.hp1 NA19004.hp1	missense_variant	MODERATE	c.9A>C c.9A>C	p.Glu3Asp p.Glu3Asp	USP17L12	ENSG00000227551.1	transcript	ENST00000415041.1	protein_coding	1/1	9/1593	9/1593	3/530			chr4	9220160
chr4:9220366	A A	G G	2	a0000 a0001 a0000 a0001	4	HG02056.hp1 HG02056.hp2 HG02148.hp1 others(1): Show HG02056.hp1 HG02056.hp2 HG02148.hp1 NA19004.hp1	missense_variant	MODERATE	c.215A>G c.215A>G	p.Asn72Ser p.Asn72Ser	USP17L12	ENSG00000227551.1	transcript	ENST00000415041.1	protein_coding	1/1	215/1593	215/1593	72/530			chr4	9220366
chr4:9220948	T T	C C	2	a0000 a0001 a0000 a0001	4	HG02056.hp1 HG02056.hp2 HG02148.hp1 others(1): Show HG02056.hp1 HG02056.hp2 HG02148.hp1 NA19004.hp1	missense_variant	MODERATE	c.797T>C c.797T>C	p.Met266Thr p.Met266Thr	USP17L12	ENSG00000227551.1	transcript	ENST00000415041.1	protein_coding	1/1	797/1593	797/1593	266/530			chr4	9220948
chr4:9220960	T T	A A	2	a0000 a0001 a0000 a0001	4	HG02056.hp1 HG02056.hp2 HG02148.hp1 others(1): Show HG02056.hp1 HG02056.hp2 HG02148.hp1 NA19004.hp1	missense_variant	MODERATE	c.809T>A c.809T>A	p.Leu270His p.Leu270His	USP17L12	ENSG00000227551.1	transcript	ENST00000415041.1	protein_coding	1/1	809/1593	809/1593	270/530			chr4	9220960
chr4:9221026	C C	A A	1	a0000 a0000	1	HG02056.hp2 HG02056.hp2	missense_variant	MODERATE	c.875C>A c.875C>A	p.Ala292Asp p.Ala292Asp	USP17L12	ENSG00000227551.1	transcript	ENST00000415041.1	protein_coding	1/1	875/1593	875/1593	292/530			chr4	9221026
chr4:9221061	C C	A A	1	a0000 a0000	1	HG02056.hp2 HG02056.hp2	missense_variant	MODERATE	c.910C>A c.910C>A	p.Gln304Lys p.Gln304Lys	USP17L12	ENSG00000227551.1	transcript	ENST00000415041.1	protein_coding	1/1	910/1593	910/1593	304/530			chr4	9221061
chr4:9221065	C C	T T	1	a0000 a0000	1	HG02056.hp2 HG02056.hp2	missense_variant	MODERATE	c.914C>T c.914C>T	p.Pro305Leu p.Pro305Leu	USP17L12	ENSG00000227551.1	transcript	ENST00000415041.1	protein_coding	1/1	914/1593	914/1593	305/530			chr4	9221065
chr4:9221079	C C	A A	2	a0000 a0001 a0000 a0001	4	HG02056.hp1 HG02056.hp2 HG02148.hp1 others(1): Show HG02056.hp1 HG02056.hp2 HG02148.hp1 NA19004.hp1	missense_variant	MODERATE	c.928C>A c.928C>A	p.Pro310Thr p.Pro310Thr	USP17L12	ENSG00000227551.1	transcript	ENST00000415041.1	protein_coding	1/1	928/1593	928/1593	310/530			chr4	9221079
chr4:9221362	C C	A A	1	a0001 a0001	3	HG02056.hp1 HG02148.hp1 NA19004.hp1 HG02056.hp1 HG02148.hp1 NA19004.hp1	missense_variant	MODERATE	c.1211C>A c.1211C>A	p.Thr404Lys p.Thr404Lys	USP17L12	ENSG00000227551.1	transcript	ENST00000415041.1	protein_coding	1/1	1211/1593	1211/1593	404/530			chr4	9221362
chr4:9221615	A A	C C	3	a0000 a0001 a0002 a0000 a0001 a0002	6	HG02056.hp1 HG02056.hp2 HG02148.hp1 others(3): Show HG02056.hp1 HG02056.hp2 HG02148.hp1 HG02148.hp2 NA19004.hp1 NA19004.hp2	missense_variant	MODERATE	c.1464A>C c.1464A>C	p.Lys488Asn p.Lys488Asn	USP17L12	ENSG00000227551.1	transcript	ENST00000415041.1	protein_coding	1/1	1464/1593	1464/1593	488/530			chr4	9221615
chr4:9221744	A A	G G	1	a0000 a0000	1	HG02056.hp2 HG02056.hp2	stop_lost&splice_region_variant	HIGH	c.1593A>G c.1593A>G	p.Ter531Trpext? p.Ter531Trpext?	USP17L12	ENSG00000227551.1	transcript	ENST00000415041.1	protein_coding	1/1	1593/1593	1593/1593	531/530			chr4	9221744

chr:pos	ref	alt	# # of chapid	chapids	# # of haplotypeids	haplotypeids	annotation	impact	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	pos
chr4:9221318	A A	G G	2	a0000c0003 a0001c0001 a0000c0003 a0001c0001	4	HG02056.hp1 HG02056.hp2 HG02148.hp1 others(1): Show HG02056.hp1 HG02056.hp2 HG02148.hp1 NA19004.hp1	synonymous_variant	LOW	c.1167A>G c.1167A>G	p.Arg389Arg p.Arg389Arg	USP17L12	ENSG00000227551.1	transcript	ENST00000415041.1	protein_coding	1/1	1167/1593	1167/1593	389/530			chr4	9221318

chr:pos	ref	alt	# # of thapid:transcript level	thapids	# # of haplotypeids	haplotypeids	annotation	impact	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	pos

chr:pos	ref	alt	# # of ghapid:genebody level	ghapids	# # of haplotypeids	haplotypeids	annotation	impact	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	genebody_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	pos