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Haplotype Detail Info [AAAS_chr12_53302460_53326610>a0001c0002t0001g0173]

geneid	8086
ensemblid	ENSG00000094914.14
hgncid	13666
symbol	AAAS
name	aladin WD repeat nucleoporin
refseq_nuc	NM_015665.6
refseq_prot	NP_056480.1
ensembl_nuc	ENST00000209873.9
ensembl_prot	ENSP00000209873.4
mane_status	MANE Select
chr	chr12
start	53307460
end	53321610
strand	-
ver	v1.2
region	chr12:53307460-53321610
region5000	chr12:53302460-53326610
regionname0	AAAS_chr12_53307460_53321610
regionname5000	AAAS_chr12_53302460_53326610

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
chr12:53316764	C C	CA CA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00544.hp1 others(126): Show HG00140.hp2 HG00280.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01943.hp1 HG01981.hp1 HG01993.hp2 HG02027.hp1 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02895.hp1 HG02897.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 NA18612.hp1 NA18747.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp2 NA18968.hp1 NA18971.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18994.hp2 NA18997.hp2 NA18998.hp2 NA19007.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(2): Show a0001c0001 a0001c0002 a0001c0008 a0001c0010 a0002c0004	a0001c0001t0001 a0001c0002t0001 a0001c0008t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0008t0001 a0001c0010t0001 a0002c0004t0001 a0002c0004t0002	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(66): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0001g0155 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0002t0001g0173 a0001c0008t0001g0144 a0001c0010t0001g0080 a0002c0004t0001g0044 a0002c0004t0001g0156 a0002c0004t0002g0021 a0002c0004t0002g0049	129	330	0.3909	1	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	2/15	c.252-983dupT

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
AAAS	1/1	a0001	546	322	88	66	118	10	38	subcellular location copy fasta	chr12	53302460	53326610

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
AAAS	1/0	c0002	1641	17	14	2	0	0	0	copy fasta	chr12	53302460	53326610

genename	grch38/ chm13v2	thapid	tlen	total	AFR	AMR	EAS	EUR	SAS	tseq	chr	start	end
AAAS	1/1	t0001	175	326	90	66	120	10	38	copy fasta	chr12	53302460	53326610

genename	grch38/ chm13v2	ghapid	total	AFR	AMR	EAS	EUR	SAS	chr	start	end
AAAS	0/0	g0173	1	0	1	0	0	0	chr12	53302460	53326610

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
AAAS	1/0	a0001c0002	17	14	2	0	0	0	1641	copy fasta	chr12	53302460	53326610

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
AAAS	1/0	a0001c0002t0001	17	14	2	0	0	0	1815	copy fasta	chr12	53302460	53326610

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
AAAS	0/0	a0001c0002t0001g0173	1	0	1	0	0	0	chr12	53302460	53326610

pos	S. Strand	E# Exon Number	max	median	min	type	haplotypeid	max_hap_list	min_hap_list	symbol	chr	start	end
53321343	-	1	-0.2436	-0.2436	-0.2436	acceptor	a0001c0002t0001g0173	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AAAS	chr12	53302460	53326610
53320565	-	2	-0.9180	-0.9180	-0.9180	acceptor	a0001c0002t0001g0173	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AAAS	chr12	53302460	53326610
53320692	-	2	0.9331	0.9331	0.9331	donor	a0001c0002t0001g0173	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AAAS	chr12	53302460	53326610
53315727	-	3	-0.9968	-0.9968	-0.9968	acceptor	a0001c0002t0001g0173	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AAAS	chr12	53302460	53326610
53315782	-	3	0.9915	0.9915	0.9915	donor	a0001c0002t0001g0173	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AAAS	chr12	53302460	53326610
53315335	-	4	-0.8022	-0.8022	-0.8022	acceptor	a0001c0002t0001g0173	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AAAS	chr12	53302460	53326610
53315426	-	4	0.7607	0.7607	0.7607	donor	a0001c0002t0001g0173	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AAAS	chr12	53302460	53326610
53315094	-	5	-0.9848	-0.9848	-0.9848	acceptor	a0001c0002t0001g0173	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AAAS	chr12	53302460	53326610
53315140	-	5	0.9682	0.9682	0.9682	donor	a0001c0002t0001g0173	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AAAS	chr12	53302460	53326610
53314751	-	6	-0.4533	-0.4533	-0.4533	acceptor	a0001c0002t0001g0173	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AAAS	chr12	53302460	53326610
53314849	-	6	0.7080	0.7079	0.7080	donor	a0001c0002t0001g0173	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AAAS	chr12	53302460	53326610
53314298	-	7	-0.9687	-0.9687	-0.9687	acceptor	a0001c0002t0001g0173	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AAAS	chr12	53302460	53326610
53314441	-	7	0.9762	0.9762	0.9762	donor	a0001c0002t0001g0173	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AAAS	chr12	53302460	53326610
53309601	-	8	-0.9871	-0.9871	-0.9871	acceptor	a0001c0002t0001g0173	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AAAS	chr12	53302460	53326610
53309721	-	8	0.9922	0.9922	0.9922	donor	a0001c0002t0001g0173	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AAAS	chr12	53302460	53326610
53309157	-	9	-0.9969	-0.9969	-0.9969	acceptor	a0001c0002t0001g0173	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AAAS	chr12	53302460	53326610
53309281	-	9	0.9969	0.9969	0.9969	donor	a0001c0002t0001g0173	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AAAS	chr12	53302460	53326610
53308960	-	10	-0.8187	-0.8187	-0.8187	acceptor	a0001c0002t0001g0173	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AAAS	chr12	53302460	53326610
53309020	-	10	0.8963	0.8963	0.8963	donor	a0001c0002t0001g0173	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AAAS	chr12	53302460	53326610
53308725	-	11	-0.8117	-0.8117	-0.8117	acceptor	a0001c0002t0001g0173	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AAAS	chr12	53302460	53326610
53308815	-	11	0.8032	0.8032	0.8032	donor	a0001c0002t0001g0173	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AAAS	chr12	53302460	53326610
53308435	-	12	-0.9843	-0.9843	-0.9843	acceptor	a0001c0002t0001g0173	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AAAS	chr12	53302460	53326610
53308528	-	12	0.9984	0.9984	0.9984	donor	a0001c0002t0001g0173	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AAAS	chr12	53302460	53326610
53308282	-	13	-0.9302	-0.9302	-0.9302	acceptor	a0001c0002t0001g0173	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AAAS	chr12	53302460	53326610
53308349	-	13	0.9525	0.9525	0.9525	donor	a0001c0002t0001g0173	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AAAS	chr12	53302460	53326610
53308052	-	14	-0.9004	-0.9004	-0.9004	acceptor	a0001c0002t0001g0173	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AAAS	chr12	53302460	53326610
53308133	-	14	0.9572	0.9572	0.9572	donor	a0001c0002t0001g0173	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AAAS	chr12	53302460	53326610
53307845	-	15	-0.4058	-0.4058	-0.4058	acceptor	a0001c0002t0001g0173	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AAAS	chr12	53302460	53326610
53307929	-	15	0.3782	0.3782	0.3782	donor	a0001c0002t0001g0173	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AAAS	chr12	53302460	53326610
53307713	-	16	0.2785	0.2784	0.2785	donor	a0001c0002t0001g0173	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AAAS	chr12	53302460	53326610

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

Haplotype Detail Info [AAAS_chr12_53302460_53326610>a0001c0002t0001g0173]

🧬 Gene Summary

🧬 JoGo Online Haplotype Explorer AAAS_chr12_53302460_53326610

AVariants in Amino-acids (protein) level Haplotype (Total: 0)

CVariants in Coding level Haplotype (Total: 0)

TVariants in Transcript level Haplotype (Total: 0)

GVariants in Genebody level Haplotype (Total: 1)

AAmino-acid (protein) Level Haplotype Info (Total: 1)

CCoding Level Haplotype Info (Total: 1)

TTranscript Level Haplotype Info (Total: 1)

GGenebody Level Haplotype Info (Total: 1)

A C AC Level (Amino Acid + Coding) Haplotype Info (Total: 1)

A C T ACT Level (Amino Acid + Coding + Transcript) Haplotype Info (Total: 1)

A C T G ACTG Level (Amino Acid + Coding + Transcript + Genebody) Haplotype Info (Total: 1)

📊 HaplotypeQTL Info

⚡ Splicing Related Variants (Total: 30)

🩺 Clinvar Related Variants (Total: 0)

GWASCatalog Related Variants (Total: 0)

GTEx Related Variants (Page 1 of 1 - Total: 0)