JoGo: Joint Open Genome and Omics Platform

Haplotype Detail Info [FKBP14_chr7_30005587_30031702>a0001c0001t0001g0011]

geneid	55033
ensemblid	ENSG00000106080.11
hgncid	18625
symbol	FKBP14
name	FKBP prolyl isomerase 14
refseq_nuc	NM_017946.4
refseq_prot	NP_060416.1
ensembl_nuc	ENST00000222803.10
ensembl_prot	ENSP00000222803.5
mane_status	MANE Select
chr	chr7
start	30010587
end	30026702
strand	-
ver	v1.2
region	chr7:30010587-30026702
region5000	chr7:30005587-30031702
regionname0	FKBP14_chr7_30010587_30026702
regionname5000	FKBP14_chr7_30005587_30031702

chr:pos	ref	alt	af	annotation	impact	samples	AHAPIDS	ACHAPIDS	ACTHAPIDS	ACTGHAPIDS	ac	an	len	genename	geneid	featuretype	featureid	transcript_biotype	rank	hgvs_c	hgvs_p	cdna_pos_length	cds_pos_length	aa_pos_length	distance	status

chr:pos	ref	alt	af	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	len	genename	geneid	featuretype	featureid	transcript_biotype	rank	hgvs_c	hgvs_p	cdna_pos_length	cds_pos_length	aa_pos_length	distance	status

chr:pos	ref	alt	af	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	len	genename	geneid	featuretype	featureid	transcript_biotype	rank	hgvs_c	hgvs_p	cdna_pos_length	cds_pos_length	aa_pos_length	distance	status

chr:pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	genename	geneid	featuretype	featureid	transcript_biotype	rank	hgvs_c	hgvs_p	cdna_pos_length	cds_pos_length	aa_pos_length	distance	status
chr7:30017998	G G	GAAAT GAAAT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01884.hp1 NA18971.hp2 others(3): Show HG01169.hp2 HG01884.hp1 NA18971.hp2 NA18979.hp1 NA18991.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0032 a0001c0001t0001 a0001c0001t0032	a0001c0001t0001g0011 a0001c0001t0032g0069 a0001c0001t0001g0011 a0001c0001t0032g0069	6	326	0.0184	4	FKBP14	ENSG00000106080.11	transcript	ENST00000222803.10	protein_coding	3/3	c.477+994_477+997dupATTT

genename	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	ahapid	alen	total	AFR	AMR	EAS	EUR	SAS	aseq	chr	start	end
FKBP14	1/1	a0001	211	321	86	59	124	16	34	subcellular location copy fasta	chr7	30005587	30031702

genename	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	chapid	clen	total	AFR	AMR	EAS	EUR	SAS	cseq	chr	start	end
FKBP14	1/1	c0001	636	299	82	57	110	16	32	copy fasta	chr7	30005587	30031702

genename	grch38/ chm13v2	thapid	tlen	total	AFR	AMR	EAS	EUR	SAS	tseq	chr	start	end
FKBP14	1/1	t0001	4343	158	31	30	66	10	19	copy fasta	chr7	30005587	30031702

genename	grch38/ chm13v2	ghapid	total	AFR	AMR	EAS	EUR	SAS	chr	start	end
FKBP14	0/0	g0011	5	1	0	4	0	0	chr7	30005587	30031702

genename	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	achapid	total	AFR	AMR	EAS	EUR	SAS	clen	cseq	chr	start	end
FKBP14	1/1	a0001c0001	299	82	57	110	16	32	636	copy fasta	chr7	30005587	30031702

genename	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	acthapid	total	AFR	AMR	EAS	EUR	SAS	tlen	tseq	chr	start	end
FKBP14	1/1	a0001c0001t0001	156	31	30	65	10	18	4978	copy fasta	chr7	30005587	30031702

genename	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	actghapid	total	AFR	AMR	EAS	EUR	SAS	chr	start	end
FKBP14	0/0	a0001c0001t0001g0011	5	1	0	4	0	0	chr7	30005587	30031702

pos	S. Strand	E# Exon Number	max	median	min	diff	type	haplotypeid	max_hap_list	min_hap_list	symbol	chr	start	end
30026312	-	1	-0.9685	-0.9685	-0.9685	0.0000	acceptor	a0001c0001t0001g0011	HG01884.hp1 NA18971.hp2 NA18979.hp1 NA18991.hp2 NA19063.hp1 HG01884.hp1 NA18971.hp2 NA18979.hp1 NA18991.hp2 NA19063.hp1	HG01884.hp1 NA18971.hp2 NA18979.hp1 NA18991.hp2 NA19063.hp1 HG01884.hp1 NA18971.hp2 NA18979.hp1 NA18991.hp2 NA19063.hp1	FKBP14	chr7	30005587	30031702
30022665	-	2	-0.9752	-0.9752	-0.9752	0.0000	acceptor	a0001c0001t0001g0011	HG01884.hp1 NA18971.hp2 NA18979.hp1 NA18991.hp2 NA19063.hp1 HG01884.hp1 NA18971.hp2 NA18979.hp1 NA18991.hp2 NA19063.hp1	HG01884.hp1 NA18971.hp2 NA18979.hp1 NA18991.hp2 NA19063.hp1 HG01884.hp1 NA18971.hp2 NA18979.hp1 NA18991.hp2 NA19063.hp1	FKBP14	chr7	30005587	30031702
30022816	-	2	0.9763	0.9763	0.9763	0.0000	donor	a0001c0001t0001g0011	HG01884.hp1 NA18971.hp2 NA18979.hp1 NA18991.hp2 NA19063.hp1 HG01884.hp1 NA18971.hp2 NA18979.hp1 NA18991.hp2 NA19063.hp1	HG01884.hp1 NA18971.hp2 NA18979.hp1 NA18991.hp2 NA19063.hp1 HG01884.hp1 NA18971.hp2 NA18979.hp1 NA18991.hp2 NA19063.hp1	FKBP14	chr7	30005587	30031702
30018996	-	3	-0.9937	-0.9937	-0.9937	0.0000	acceptor	a0001c0001t0001g0011	HG01884.hp1 NA18971.hp2 NA18979.hp1 NA18991.hp2 NA19063.hp1 HG01884.hp1 NA18971.hp2 NA18979.hp1 NA18991.hp2 NA19063.hp1	HG01884.hp1 NA18971.hp2 NA18979.hp1 NA18991.hp2 NA19063.hp1 HG01884.hp1 NA18971.hp2 NA18979.hp1 NA18991.hp2 NA19063.hp1	FKBP14	chr7	30005587	30031702
30019123	-	3	0.9942	0.9942	0.9942	0.0000	donor	a0001c0001t0001g0011	HG01884.hp1 NA18971.hp2 NA18979.hp1 NA18991.hp2 NA19063.hp1 HG01884.hp1 NA18971.hp2 NA18979.hp1 NA18991.hp2 NA19063.hp1	HG01884.hp1 NA18971.hp2 NA18979.hp1 NA18991.hp2 NA19063.hp1 HG01884.hp1 NA18971.hp2 NA18979.hp1 NA18991.hp2 NA19063.hp1	FKBP14	chr7	30005587	30031702
30014893	-	4	0.9817	0.9817	0.9817	0.0000	donor	a0001c0001t0001g0011	HG01884.hp1 NA18971.hp2 NA18979.hp1 NA18991.hp2 NA19063.hp1 HG01884.hp1 NA18971.hp2 NA18979.hp1 NA18991.hp2 NA19063.hp1	HG01884.hp1 NA18971.hp2 NA18979.hp1 NA18991.hp2 NA19063.hp1 HG01884.hp1 NA18971.hp2 NA18979.hp1 NA18991.hp2 NA19063.hp1	FKBP14	chr7	30005587	30031702

pos	annotation hgvs_c hgvs_p	clinvarid	clnsig	geneinfo	mc	clndisdb	strand strand	ahapid ahapid_count	chapid chapid count	thapid thapid_count	ghapid ghapid_count	AHAPIDS ahapids	ACHAPIDS achapids	ACTHAPIDS acthapids	ACTGHAPIDS actghapids	haplotypeids haplotypeids	impact	chr	ref	alt	external

CHR:POS	annotation hgvs_c hgvs_p	disease trait -log10p odds or beta	AHAPIDS ahapids	ACHAPIDS achapids	ACTHAPIDS acthapids	ACTGHAPIDS actghapids	haplotypeids haplotypeids	study	initial sample size/ replication sample size	report genes	mapped gene	strongest snp risk allele	strand strand	impact	chr	ref	alt

pos	genename hgvs_c hgvs_p annotation	tissue expression gene -log10(pval) slope Tissue name in GTEx database(the target eQTL tissue name of the GTEx database) The -log10(nominal pvalue) in GTEx database Slope in GTEx database (positive value:alt allele has higher gene expression)	ahapid chapid thapid ghapid ahapid_count chapid_count thapid_count ghapid_count	AHAPIDS ahapids	ACHAPIDS achapids	ACTHAPIDS acthapids	ACTGHAPIDS actghapids	haplotypeids haplotypeids	af allele frequency in GTEx database	ms The number of samples with minor allele in GTEx database	ma The number of minor allele count in GTEx database	ver GTEx version	vid Variant ID in GTEx database	strand strand	impact	chr	ref	alt	external