Joint Open Genome and Omics Platform (JoGo)

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Item	Value
geneid	1673
ensemblid	ENSG00000171711.3
hgncid	2767
symbol	DEFB4A
name	defensin beta 4A
refseq_nuc	NM_004942.4
refseq_prot	NP_004933.1
ensembl_nuc	ENST00000302247.3
ensembl_prot	ENSP00000303532.2
mane_status	MANE Select
chr	chr8
start	7894677
end	7896716
strand	+
ver	v1.2
region	chr8:7894677-7896716
region5000	chr8:7889677-7901716
regionname0	DEFB4A_chr8_7894677_7896716
regionname5000	DEFB4A_chr8_7889677_7901716

ahapid	grch38/ chm13v2	alen	total	AFR	AMR	EAS	EUR	SAS	JPT	regionname	genename	aa	chr	start	end
a0001	0/0	64	94	20	28	26	4	16	20	DEFB4A_chr8_7889677_7901716	DEFB4A	MRVLY others(59): Show MRVLYLLFSFLFIFLMPLPGVFGGIGDPVTCLKSGAICHPVFCPRRYKQI GTCGLPGTKCCKKP	chr8	7889677	7901716

achapid	grch38/ chm13v2	clen	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	cseq	chr	start	end
a0001c0001	0/0	192	76	15	22	20	4	15	DEFB4A_chr8_7889677_7901716	DEFB4A	ATGAG others(187): Show ATGAGGGTCTTGTATCTCCTCTTCTCGTTCCTCTTCATATTCCTGATGCC TCTTCCAGGTGTTTTTGGTGGTATAGGCGATCCTGTTACCTGCCTTAAGA GTGGAGCCATATGTCATCCAGTCTTTTGCCCTAGAAGGTATAAACAAATT GGCACCTGTGGTCTCCCTGGAACAAAATGCTGCAAAAAGCCA	chr8	7889677	7901716
a0001c0002	0/0	192	15	3	6	6	0	0	DEFB4A_chr8_7889677_7901716	DEFB4A	ATGAG others(187): Show ATGAGGGTCTTGTATCTCCTCTTCTCGTTCCTCTTCATATTCCTGATGCC TCTTCCAGGTGTTTTTGGTGGTATAGGCGATCCCGTTACCTGCCTTAAGA GTGGAGCCATATGTCATCCAGTCTTTTGCCCTAGAAGGTATAAACAAATT GGCACCTGTGGTCTCCCTGGAACAAAATGCTGCAAAAAGCCA	chr8	7889677	7901716
a0001c0003	0/0	192	2	2	0	0	0	0	DEFB4A_chr8_7889677_7901716	DEFB4A	ATGAG others(187): Show ATGAGGGTCTTGTATCTCCTCTTCTCGTTCCTCTTCATATTCCTGATGCC TCTTCCAGGTGTTTTTGGTGGTATAGGCGATCCCGTTACCTGCCTTAAGA GTGGAGCCATATGTCATCCAGTCTTTTGCCCTAGAAGGTATAAACAAATC GGCACCTGTGGTCTCCCTGGAACAAAATGCTGCAAAAAGCCA	chr8	7889677	7901716
a0001c0004	0/0	192	1	0	0	0	0	1	DEFB4A_chr8_7889677_7901716	DEFB4A	ATGAG others(187): Show ATGAGGGTCTTGTATCTCCTCTTCTCGTTCCTCTTCATATTTCTGATGCC TCTTCCAGGTGTTTTTGGTGGTATAGGCGATCCTGTTACCTGCCTTAAGA GTGGAGCCATATGTCATCCAGTCTTTTGCCCTAGAAGGTATAAACAAATT GGCACCTGTGGTCTCCCTGGAACAAAATGCTGCAAAAAGCCA	chr8	7889677	7901716

acthapid	grch38 chm13v2	tlen	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	tseq	chr	start	end
a0001c0001t0001	0/0	337	76	15	22	20	4	15	DEFB4A_chr8_7889677_7901716	DEFB4A	AGACT others(332): Show AGACTCAGCTCCTGGTGAAGCTCCCAGCCATCAGCCATGAGGGTCTTGTA TCTCCTCTTCTCGTTCCTCTTCATATTCCTGATGCCTCTTCCAGGTGTTT TTGGTGGTATAGGCGATCCTGTTACCTGCCTTAAGAGTGGAGCCATATGT CATCCAGTCTTTTGCCCTAGAAGGTATAAACAAATTGGCACCTGTGGTCT CCCTGGAACAAAATGCTGCAAAAAGCCATGAGGAGGCCAAGAAGCTGCTG TGGCTGATGCGGATTCAGAAAGGGCTCCCTCATCAGAGACGTGCGACATG TAAACCAAATTAAACTATGGTGTCCAAAGATACGCAA	chr8	7889677	7901716
a0001c0002t0001	0/0	337	11	0	5	6	0	0	DEFB4A_chr8_7889677_7901716	DEFB4A	AGACT others(332): Show AGACTCAGCTCCTGGTGAAGCTCCCAGCCATCAGCCATGAGGGTCTTGTA TCTCCTCTTCTCGTTCCTCTTCATATTCCTGATGCCTCTTCCAGGTGTTT TTGGTGGTATAGGCGATCCCGTTACCTGCCTTAAGAGTGGAGCCATATGT CATCCAGTCTTTTGCCCTAGAAGGTATAAACAAATTGGCACCTGTGGTCT CCCTGGAACAAAATGCTGCAAAAAGCCATGAGGAGGCCAAGAAGCTGCTG TGGCTGATGCGGATTCAGAAAGGGCTCCCTCATCAGAGACGTGCGACATG TAAACCAAATTAAACTATGGTGTCCAAAGATACGCAA	chr8	7889677	7901716
a0001c0002t0002	0/0	337	4	3	1	0	0	0	DEFB4A_chr8_7889677_7901716	DEFB4A	AGACT others(332): Show AGACTCAGCTCCTGGTGAAGCTCCCAGCCATCAGCCATGAGGGTCTTGTA TCTCCTCTTCTCGTTCCTCTTCATATTCCTGATGCCTCTTCCAGGTGTTT TTGGTGGTATAGGCGATCCCGTTACCTGCCTTAAGAGTGGAGCCATATGT CATCCAGTCTTTTGCCCTAGAAGGTATAAACAAATTGGCACCTGTGGTCT CCCTGGAACAAAATGCTGCAAAAAGCCATGAGGAGGCCAAGAAGCTGCTG TGGCTGATGCGGATTCAGAAAGGGCTCCCTCATCAGAGACGTGCGACATG TAAACCAAATTAAACTATGGTGTCCAAAGATACGGAA	chr8	7889677	7901716
a0001c0003t0002	0/0	337	2	2	0	0	0	0	DEFB4A_chr8_7889677_7901716	DEFB4A	AGACT others(332): Show AGACTCAGCTCCTGGTGAAGCTCCCAGCCATCAGCCATGAGGGTCTTGTA TCTCCTCTTCTCGTTCCTCTTCATATTCCTGATGCCTCTTCCAGGTGTTT TTGGTGGTATAGGCGATCCCGTTACCTGCCTTAAGAGTGGAGCCATATGT CATCCAGTCTTTTGCCCTAGAAGGTATAAACAAATCGGCACCTGTGGTCT CCCTGGAACAAAATGCTGCAAAAAGCCATGAGGAGGCCAAGAAGCTGCTG TGGCTGATGCGGATTCAGAAAGGGCTCCCTCATCAGAGACGTGCGACATG TAAACCAAATTAAACTATGGTGTCCAAAGATACGGAA	chr8	7889677	7901716
a0001c0004t0001	0/0	337	1	0	0	0	0	1	DEFB4A_chr8_7889677_7901716	DEFB4A	AGACT others(332): Show AGACTCAGCTCCTGGTGAAGCTCCCAGCCATCAGCCATGAGGGTCTTGTA TCTCCTCTTCTCGTTCCTCTTCATATTTCTGATGCCTCTTCCAGGTGTTT TTGGTGGTATAGGCGATCCTGTTACCTGCCTTAAGAGTGGAGCCATATGT CATCCAGTCTTTTGCCCTAGAAGGTATAAACAAATTGGCACCTGTGGTCT CCCTGGAACAAAATGCTGCAAAAAGCCATGAGGAGGCCAAGAAGCTGCTG TGGCTGATGCGGATTCAGAAAGGGCTCCCTCATCAGAGACGTGCGACATG TAAACCAAATTAAACTATGGTGTCCAAAGATACGCAA	chr8	7889677	7901716

actghapid	grch38/ chm13v2	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	chr	start	end
a0001c0001t0001g0001	0/0	65	10	22	18	4	11	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
a0001c0001t0001g0002	0/0	5	0	0	1	0	4	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
a0001c0001t0001g0004	0/0	3	3	0	0	0	0	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
a0001c0001t0001g0007	0/0	1	1	0	0	0	0	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
a0001c0001t0001g0008	0/0	1	1	0	0	0	0	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
a0001c0001t0001g0010	0/0	1	0	0	1	0	0	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
a0001c0002t0001g0001	0/0	8	0	3	5	0	0	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
a0001c0002t0001g0005	0/0	3	0	2	1	0	0	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
a0001c0002t0002g0003	0/0	4	3	1	0	0	0	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
a0001c0003t0002g0006	0/0	2	2	0	0	0	0	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
a0001c0004t0001g0009	0/0	1	0	0	0	0	1	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716

sampleid	ID haplotypeid	ahapid	chapid	thapid	ghapid	gpopname	popname	regionname	genename	chr	start	end
HG00099	hp1	a0001	c0001	t0001	g0001	EUR	GBR	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG00099	hp2	a0001	c0001	t0001	g0001	EUR	GBR	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG00558	hp1	a0001	c0001	t0001	g0002	EAS	CHS	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG00558	hp2	a0001	c0001	t0001	g0001	EAS	CHS	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG00642	hp1	a0001	c0001	t0001	g0001	AMR	PUR	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG00642	hp2	a0001	c0001	t0001	g0001	AMR	PUR	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG00741	hp1	a0001	c0002	t0002	g0003	AMR	PUR	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG00741	hp2	a0001	c0001	t0001	g0001	AMR	PUR	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG01070	hp1	a0001	c0001	t0001	g0001	AMR	PUR	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG01070	hp2	a0001	c0001	t0001	g0001	AMR	PUR	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG01168	hp1	a0001	c0001	t0001	g0001	AMR	PUR	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG01168	hp2	a0001	c0001	t0001	g0001	AMR	PUR	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG01169	hp1	a0001	c0001	t0001	g0001	AMR	PUR	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG01169	hp2	a0001	c0001	t0001	g0001	AMR	PUR	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG01243	hp1	a0001	c0001	t0001	g0001	AMR	PUR	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG01243	hp2	a0001	c0001	t0001	g0001	AMR	PUR	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG01258	hp1	a0001	c0001	t0001	g0001	AMR	CLM	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG01258	hp2	a0001	c0001	t0001	g0001	AMR	CLM	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG01346	hp1	a0001	c0001	t0001	g0001	AMR	CLM	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG01346	hp2	a0001	c0002	t0001	g0005	AMR	CLM	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG01361	hp1	a0001	c0001	t0001	g0001	AMR	CLM	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG01361	hp2	a0001	c0001	t0001	g0001	AMR	CLM	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG01516	hp1	a0001	c0001	t0001	g0001	EUR	IBS	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG01516	hp2	a0001	c0001	t0001	g0001	EUR	IBS	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG01891	hp1	a0001	c0002	t0002	g0003	AFR	ACB	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG01891	hp2	a0001	c0001	t0001	g0007	AFR	ACB	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG01934	hp1	a0001	c0001	t0001	g0001	AMR	PEL	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG01934	hp2	a0001	c0001	t0001	g0001	AMR	PEL	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG01943	hp1	a0001	c0002	t0001	g0001	AMR	PEL	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG01943	hp2	a0001	c0002	t0001	g0005	AMR	PEL	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG01952	hp1	a0001	c0002	t0001	g0001	AMR	PEL	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG01952	hp2	a0001	c0001	t0001	g0001	AMR	PEL	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG01981	hp1	a0001	c0001	t0001	g0001	AMR	PEL	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG01981	hp2	a0001	c0001	t0001	g0001	AMR	PEL	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG02080	hp1	a0001	c0001	t0001	g0001	EAS	KHV	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG02080	hp2	a0001	c0001	t0001	g0010	EAS	KHV	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG02273	hp1	a0001	c0002	t0001	g0001	AMR	PEL	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG02273	hp2	a0001	c0001	t0001	g0001	AMR	PEL	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG02523	hp1	a0001	c0001	t0001	g0001	EAS	KHV	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG02523	hp2	a0001	c0001	t0001	g0001	EAS	KHV	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG02572	hp1	a0001	c0001	t0001	g0004	AFR	GWD	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG02572	hp2	a0001	c0002	t0002	g0003	AFR	GWD	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG02630	hp1	a0001	c0001	t0001	g0001	AFR	GWD	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG02630	hp2	a0001	c0003	t0002	g0006	AFR	GWD	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG02683	hp1	a0001	c0001	t0001	g0001	SAS	PJL	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG02683	hp2	a0001	c0004	t0001	g0009	SAS	PJL	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG02698	hp1	a0001	c0001	t0001	g0001	SAS	PJL	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG02698	hp2	a0001	c0001	t0001	g0001	SAS	PJL	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG02723	hp1	a0001	c0003	t0002	g0006	AFR	GWD	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG02723	hp2	a0001	c0001	t0001	g0004	AFR	GWD	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG02976	hp1	a0001	c0001	t0001	g0001	AFR	ESN	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG02976	hp2	a0001	c0001	t0001	g0001	AFR	ESN	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG03017	hp1	a0001	c0001	t0001	g0002	SAS	PJL	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG03017	hp2	a0001	c0001	t0001	g0001	SAS	PJL	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG03139	hp1	a0001	c0001	t0001	g0001	AFR	ESN	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG03139	hp2	a0001	c0001	t0001	g0008	AFR	ESN	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG03491	hp1	a0001	c0001	t0001	g0001	SAS	PJL	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG03491	hp2	a0001	c0001	t0001	g0002	SAS	PJL	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG03688	hp1	a0001	c0001	t0001	g0001	SAS	STU	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG03688	hp2	a0001	c0001	t0001	g0001	SAS	STU	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG03942	hp1	a0001	c0001	t0001	g0001	SAS	BEB	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG03942	hp2	a0001	c0001	t0001	g0001	SAS	BEB	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG04199	hp1	a0001	c0001	t0001	g0002	SAS	STU	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG04199	hp2	a0001	c0001	t0001	g0001	SAS	STU	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG04228	hp1	a0001	c0001	t0001	g0001	SAS	STU	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG04228	hp2	a0001	c0001	t0001	g0002	SAS	STU	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
NA18906	hp1	a0001	c0001	t0001	g0004	AFR	YRI	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
NA18906	hp2	a0001	c0001	t0001	g0001	AFR	YRI	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
NA18960	hp1	a0001	c0001	t0001	g0001	EAS	JPT	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
NA18960	hp2	a0001	c0002	t0001	g0005	EAS	JPT	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
NA18963	hp1	a0001	c0002	t0001	g0001	EAS	JPT	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
NA18963	hp2	a0001	c0001	t0001	g0001	EAS	JPT	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
NA18964	hp1	a0001	c0001	t0001	g0001	EAS	JPT	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
NA18964	hp2	a0001	c0001	t0001	g0001	EAS	JPT	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
NA18968	hp1	a0001	c0002	t0001	g0001	EAS	JPT	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
NA18968	hp2	a0001	c0001	t0001	g0001	EAS	JPT	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
NA18979	hp1	a0001	c0001	t0001	g0001	EAS	JPT	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
NA18979	hp2	a0001	c0001	t0001	g0001	EAS	JPT	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
NA19003	hp1	a0001	c0001	t0001	g0001	EAS	JPT	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
NA19003	hp2	a0001	c0002	t0001	g0001	EAS	JPT	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
NA19065	hp1	a0001	c0001	t0001	g0001	EAS	JPT	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
NA19065	hp2	a0001	c0001	t0001	g0001	EAS	JPT	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
NA19070	hp1	a0001	c0001	t0001	g0001	EAS	JPT	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
NA19070	hp2	a0001	c0001	t0001	g0001	EAS	JPT	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
NA19084	hp1	a0001	c0002	t0001	g0001	EAS	JPT	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
NA19084	hp2	a0001	c0002	t0001	g0001	EAS	JPT	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
NA19089	hp1	a0001	c0001	t0001	g0001	EAS	JPT	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
NA19089	hp2	a0001	c0001	t0001	g0001	EAS	JPT	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
NA19240	hp1	a0001	c0002	t0002	g0003	AFR	YRI	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
NA19240	hp2	a0001	c0001	t0001	g0001	AFR	YRI	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG02486	hp1	a0001	c0001	t0001	g0001	AFR	ACB	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
HG02486	hp2	a0001	c0001	t0001	g0001	AFR	ACB	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
NA20300	hp1	a0001	c0001	t0001	g0001	AFR	USA	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716
NA20300	hp2	a0001	c0001	t0001	g0001	AFR	USA	DEFB4A_chr8_7889677_7901716	DEFB4A	chr8	7889677	7901716

view	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
	chr8:7896714	C C	G G	1	a0001 a0001	6	HG00741.hp1 HG01891.hp1 HG02572.hp2 others(3): Show HG00741.hp1 HG01891.hp1 HG02572.hp2 HG02630.hp2 HG02723.hp1 NA19240.hp1	splice_region_variant	LOW	c.104C>G c.104C>G		DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	2/2						chr8	7896714

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	chr	pos
chr8:7894754	C C	T T	1	a0001c0004 a0001c0004	1	HG02683.hp2 HG02683.hp2	synonymous_variant	LOW	c.42C>T c.42C>T	p.Phe14Phe p.Phe14Phe	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/2	78/337	42/195	14/64	chr8	7894754
chr8:7896499	T T	C C	2	a0001c0002 a0001c0003 a0001c0002 a0001c0003	17	HG00741.hp1 HG01346.hp2 HG01891.hp1 others(14): Show HG00741.hp1 HG01346.hp2 HG01891.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG02273.hp1 HG02572.hp2 HG02630.hp2 HG02723.hp1 NA18960.hp2 NA18963.hp1 NA18968.hp1 NA19003.hp2 NA19084.hp1 NA19084.hp2 NA19240.hp1	synonymous_variant	LOW	c.84T>C c.84T>C	p.Pro28Pro p.Pro28Pro	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	2/2	120/337	84/195	28/64	chr8	7896499
chr8:7896565	T T	C C	1	a0001c0003 a0001c0003	2	HG02630.hp2 HG02723.hp1 HG02630.hp2 HG02723.hp1	synonymous_variant	LOW	c.150T>C c.150T>C	p.Ile50Ile p.Ile50Ile	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	2/2	186/337	150/195	50/64	chr8	7896565

view	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	genename	geneid	featuretype	featureid	genebody_biotype	rank	status	chr	pos
chr8:7894956	C C	A A	1	a0001c0001t0001g0007 a0001c0001t0001g0007	1	HG01891.hp2 HG01891.hp2	intron_variant	MODIFIER	c.58+186C>A c.58+186C>A	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7894956
chr8:7895024	TTAGACTG others(2): Show TTAGACTGAG	T T	4	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0003t0002g0006 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0003t0002g0006 a0001c0004t0001g0009	7	HG02572.hp1 HG02630.hp2 HG02683.hp2 others(4): Show HG02572.hp1 HG02630.hp2 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG03139.hp2 NA18906.hp1	intron_variant	MODIFIER	c.58+263_58+271delGT others(7): Show c.58+263_58+271delGTAGACTGA	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1	INFO_REALIGN_3_PRIME	chr8	7895024
chr8:7895061	C C	A A	1	a0001c0001t0001g0008 a0001c0001t0001g0008	1	HG03139.hp2 HG03139.hp2	intron_variant	MODIFIER	c.58+291C>A c.58+291C>A	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7895061
chr8:7895110	A A	C C	7	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0002t0001g0005 a0001c0002t0002g0003 a0001c0003t0002g0006 a0001c0004t0001g0009	19	HG00558.hp1 HG00741.hp1 HG01346.hp2 others(16): Show HG00558.hp1 HG00741.hp1 HG01346.hp2 HG01891.hp1 HG01943.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp2 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG03017.hp1 HG03139.hp2 HG03491.hp2 HG04199.hp1 HG04228.hp2 NA18906.hp1 NA18960.hp2 NA19240.hp1	intron_variant	MODIFIER	c.58+340A>C c.58+340A>C	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7895110
chr8:7895118	G G	A A	1	a0001c0001t0001g0010 a0001c0001t0001g0010	1	HG02080.hp2 HG02080.hp2	intron_variant	MODIFIER	c.58+348G>A c.58+348G>A	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7895118
chr8:7895151	T T	C C	5	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0002t0001g0005 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0002t0001g0005 a0001c0003t0002g0006 a0001c0004t0001g0009	10	HG01346.hp2 HG01943.hp2 HG02572.hp1 others(7): Show HG01346.hp2 HG01943.hp2 HG02572.hp1 HG02630.hp2 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG03139.hp2 NA18906.hp1 NA18960.hp2	intron_variant	MODIFIER	c.58+381T>C c.58+381T>C	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7895151
chr8:7895162	C C	T T	1	a0001c0001t0001g0002 a0001c0001t0001g0002	5	HG00558.hp1 HG03017.hp1 HG03491.hp2 others(2): Show HG00558.hp1 HG03017.hp1 HG03491.hp2 HG04199.hp1 HG04228.hp2	intron_variant	MODIFIER	c.58+392C>T c.58+392C>T	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7895162
chr8:7895190	C C	T T	1	a0001c0001t0001g0002 a0001c0001t0001g0002	5	HG00558.hp1 HG03017.hp1 HG03491.hp2 others(2): Show HG00558.hp1 HG03017.hp1 HG03491.hp2 HG04199.hp1 HG04228.hp2	intron_variant	MODIFIER	c.58+420C>T c.58+420C>T	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7895190
chr8:7895306	A A	G G	5	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0002t0001g0005 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0002t0001g0005 a0001c0003t0002g0006 a0001c0004t0001g0009	10	HG01346.hp2 HG01943.hp2 HG02572.hp1 others(7): Show HG01346.hp2 HG01943.hp2 HG02572.hp1 HG02630.hp2 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG03139.hp2 NA18906.hp1 NA18960.hp2	intron_variant	MODIFIER	c.58+536A>G c.58+536A>G	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7895306
chr8:7895367	C C	G G	1	a0001c0001t0001g0002 a0001c0001t0001g0002	5	HG00558.hp1 HG03017.hp1 HG03491.hp2 others(2): Show HG00558.hp1 HG03017.hp1 HG03491.hp2 HG04199.hp1 HG04228.hp2	intron_variant	MODIFIER	c.58+597C>G c.58+597C>G	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7895367
chr8:7895478	A A	T T	1	a0001c0001t0001g0008 a0001c0001t0001g0008	1	HG03139.hp2 HG03139.hp2	intron_variant	MODIFIER	c.58+708A>T c.58+708A>T	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7895478
chr8:7895588	G G	A A	1	a0001c0001t0001g0002 a0001c0001t0001g0002	5	HG00558.hp1 HG03017.hp1 HG03491.hp2 others(2): Show HG00558.hp1 HG03017.hp1 HG03491.hp2 HG04199.hp1 HG04228.hp2	intron_variant	MODIFIER	c.58+818G>A c.58+818G>A	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7895588
chr8:7895730	A A	G G	5	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0002t0001g0005 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0002t0001g0005 a0001c0003t0002g0006 a0001c0004t0001g0009	10	HG01346.hp2 HG01943.hp2 HG02572.hp1 others(7): Show HG01346.hp2 HG01943.hp2 HG02572.hp1 HG02630.hp2 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG03139.hp2 NA18906.hp1 NA18960.hp2	intron_variant	MODIFIER	c.59-744A>G c.59-744A>G	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7895730
chr8:7895781	G G	C C	1	a0001c0003t0002g0006 a0001c0003t0002g0006	2	HG02630.hp2 HG02723.hp1 HG02630.hp2 HG02723.hp1	intron_variant	MODIFIER	c.59-693G>C c.59-693G>C	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7895781
chr8:7895791	AGGCTGGT others(6): Show AGGCTGGTGGGAGG	A A	1	a0001c0001t0001g0008 a0001c0001t0001g0008	1	HG03139.hp2 HG03139.hp2	intron_variant	MODIFIER	c.59-680_59-668delCT others(11): Show c.59-680_59-668delCTGGTGGGAGGGG	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1	INFO_REALIGN_3_PRIME	chr8	7895791
chr8:7895794	C C	G G	2	a0001c0001t0001g0002 a0001c0004t0001g0009 a0001c0001t0001g0002 a0001c0004t0001g0009	6	HG00558.hp1 HG02683.hp2 HG03017.hp1 others(3): Show HG00558.hp1 HG02683.hp2 HG03017.hp1 HG03491.hp2 HG04199.hp1 HG04228.hp2	intron_variant	MODIFIER	c.59-680C>G c.59-680C>G	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7895794
chr8:7895795	T T	A A	2	a0001c0001t0001g0002 a0001c0004t0001g0009 a0001c0001t0001g0002 a0001c0004t0001g0009	6	HG00558.hp1 HG02683.hp2 HG03017.hp1 others(3): Show HG00558.hp1 HG02683.hp2 HG03017.hp1 HG03491.hp2 HG04199.hp1 HG04228.hp2	intron_variant	MODIFIER	c.59-679T>A c.59-679T>A	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7895795
chr8:7895798	T T	C C	2	a0001c0001t0001g0002 a0001c0004t0001g0009 a0001c0001t0001g0002 a0001c0004t0001g0009	6	HG00558.hp1 HG02683.hp2 HG03017.hp1 others(3): Show HG00558.hp1 HG02683.hp2 HG03017.hp1 HG03491.hp2 HG04199.hp1 HG04228.hp2	intron_variant	MODIFIER	c.59-676T>C c.59-676T>C	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7895798
chr8:7895798	TGGGAG TGGGAG	T T	2	a0001c0002t0002g0003 a0001c0003t0002g0006 a0001c0002t0002g0003 a0001c0003t0002g0006	6	HG00741.hp1 HG01891.hp1 HG02572.hp2 others(3): Show HG00741.hp1 HG01891.hp1 HG02572.hp2 HG02630.hp2 HG02723.hp1 NA19240.hp1	intron_variant	MODIFIER	c.59-672_59-668delAG others(3): Show c.59-672_59-668delAGGGG	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1	INFO_REALIGN_3_PRIME	chr8	7895798
chr8:7895802	A A	C C	2	a0001c0001t0001g0002 a0001c0004t0001g0009 a0001c0001t0001g0002 a0001c0004t0001g0009	6	HG00558.hp1 HG02683.hp2 HG03017.hp1 others(3): Show HG00558.hp1 HG02683.hp2 HG03017.hp1 HG03491.hp2 HG04199.hp1 HG04228.hp2	intron_variant	MODIFIER	c.59-672A>C c.59-672A>C	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7895802
chr8:7895803	G G	A A	2	a0001c0001t0001g0002 a0001c0004t0001g0009 a0001c0001t0001g0002 a0001c0004t0001g0009	6	HG00558.hp1 HG02683.hp2 HG03017.hp1 others(3): Show HG00558.hp1 HG02683.hp2 HG03017.hp1 HG03491.hp2 HG04199.hp1 HG04228.hp2	intron_variant	MODIFIER	c.59-671G>A c.59-671G>A	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7895803
chr8:7895804	GGGGA GGGGA	G G	6	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0002t0001g0001 a0001c0002t0001g0005	81	HG00099.hp1 HG00099.hp2 HG00558.hp2 others(78): Show HG00099.hp1 HG00099.hp2 HG00558.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02080.hp1 HG02080.hp2 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03139.hp1 HG03491.hp1 HG03688.hp1 HG03688.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG04228.hp1 NA18906.hp1 NA18906.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18979.hp1 NA18979.hp2 NA19003.hp1 NA19003.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19084.hp1 NA19084.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2	intron_variant	MODIFIER	c.59-653_59-650delGG others(2): Show c.59-653_59-650delGGGA	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1	INFO_REALIGN_3_PRIME	chr8	7895804
chr8:7895806	G G	T T	2	a0001c0001t0001g0002 a0001c0004t0001g0009 a0001c0001t0001g0002 a0001c0004t0001g0009	6	HG00558.hp1 HG02683.hp2 HG03017.hp1 others(3): Show HG00558.hp1 HG02683.hp2 HG03017.hp1 HG03491.hp2 HG04199.hp1 HG04228.hp2	intron_variant	MODIFIER	c.59-668G>T c.59-668G>T	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7895806
chr8:7895807	GA GA	G G	2	a0001c0001t0001g0002 a0001c0004t0001g0009 a0001c0001t0001g0002 a0001c0004t0001g0009	6	HG00558.hp1 HG02683.hp2 HG03017.hp1 others(3): Show HG00558.hp1 HG02683.hp2 HG03017.hp1 HG03491.hp2 HG04199.hp1 HG04228.hp2	intron_variant	MODIFIER	c.59-666delA c.59-666delA	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7895807
chr8:7895808	A A	G G	2	a0001c0002t0002g0003 a0001c0003t0002g0006 a0001c0002t0002g0003 a0001c0003t0002g0006	6	HG00741.hp1 HG01891.hp1 HG02572.hp2 others(3): Show HG00741.hp1 HG01891.hp1 HG02572.hp2 HG02630.hp2 HG02723.hp1 NA19240.hp1	intron_variant	MODIFIER	c.59-666A>G c.59-666A>G	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7895808
chr8:7895811	G G	C C	1	a0001c0001t0001g0008 a0001c0001t0001g0008	1	HG03139.hp2 HG03139.hp2	intron_variant	MODIFIER	c.59-663G>C c.59-663G>C	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7895811
chr8:7895819	G G	C C	1	a0001c0001t0001g0008 a0001c0001t0001g0008	1	HG03139.hp2 HG03139.hp2	intron_variant	MODIFIER	c.59-655G>C c.59-655G>C	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7895819
chr8:7895820	A A	G G	1	a0001c0001t0001g0008 a0001c0001t0001g0008	1	HG03139.hp2 HG03139.hp2	intron_variant	MODIFIER	c.59-654A>G c.59-654A>G	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7895820
chr8:7895823	G G	C C	1	a0001c0001t0001g0008 a0001c0001t0001g0008	1	HG03139.hp2 HG03139.hp2	intron_variant	MODIFIER	c.59-651G>C c.59-651G>C	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7895823
chr8:7895825	A A	G G	1	a0001c0001t0001g0008 a0001c0001t0001g0008	1	HG03139.hp2 HG03139.hp2	intron_variant	MODIFIER	c.59-649A>G c.59-649A>G	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7895825
chr8:7895827	G G	T T	1	a0001c0001t0001g0008 a0001c0001t0001g0008	1	HG03139.hp2 HG03139.hp2	intron_variant	MODIFIER	c.59-647G>T c.59-647G>T	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7895827
chr8:7895828	A A	G G	1	a0001c0001t0001g0008 a0001c0001t0001g0008	1	HG03139.hp2 HG03139.hp2	intron_variant	MODIFIER	c.59-646A>G c.59-646A>G	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7895828
chr8:7895829	GGGAAGGA others(25): Show GGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAA	G G	1	a0001c0001t0001g0002 a0001c0001t0001g0002	5	HG00558.hp1 HG03017.hp1 HG03491.hp2 others(2): Show HG00558.hp1 HG03017.hp1 HG03491.hp2 HG04199.hp1 HG04228.hp2	intron_variant	MODIFIER	c.59-641_59-610delAG others(30): Show c.59-641_59-610delAGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGA	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1	INFO_REALIGN_3_PRIME	chr8	7895829
chr8:7895833	A A	G G	2	a0001c0001t0001g0008 a0001c0004t0001g0009 a0001c0001t0001g0008 a0001c0004t0001g0009	2	HG02683.hp2 HG03139.hp2 HG02683.hp2 HG03139.hp2	intron_variant	MODIFIER	c.59-641A>G c.59-641A>G	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7895833
chr8:7895841	G G	C C	1	a0001c0001t0001g0008 a0001c0001t0001g0008	1	HG03139.hp2 HG03139.hp2	intron_variant	MODIFIER	c.59-633G>C c.59-633G>C	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7895841
chr8:7895845	G G	A A	3	a0001c0001t0001g0008 a0001c0002t0002g0003 a0001c0003t0002g0006 a0001c0001t0001g0008 a0001c0002t0002g0003 a0001c0003t0002g0006	7	HG00741.hp1 HG01891.hp1 HG02572.hp2 others(4): Show HG00741.hp1 HG01891.hp1 HG02572.hp2 HG02630.hp2 HG02723.hp1 HG03139.hp2 NA19240.hp1	intron_variant	MODIFIER	c.59-629G>A c.59-629G>A	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7895845
chr8:7895845	GGGAGGGA others(9): Show GGGAGGGAAGGAGGGAA	G G	1	a0001c0004t0001g0009 a0001c0004t0001g0009	1	HG02683.hp2 HG02683.hp2	intron_variant	MODIFIER	c.59-621_59-606delAG others(14): Show c.59-621_59-606delAGGAGGGAAGGAGGGA	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1	INFO_REALIGN_3_PRIME	chr8	7895845
chr8:7895853	A A	G G	1	a0001c0001t0001g0008 a0001c0001t0001g0008	1	HG03139.hp2 HG03139.hp2	intron_variant	MODIFIER	c.59-621A>G c.59-621A>G	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7895853
chr8:7895861	A A	G G	1	a0001c0001t0001g0008 a0001c0001t0001g0008	1	HG03139.hp2 HG03139.hp2	intron_variant	MODIFIER	c.59-613A>G c.59-613A>G	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7895861
chr8:7895861	AGGAG AGGAG	A A	1	a0001c0002t0002g0003 a0001c0002t0002g0003	4	HG00741.hp1 HG01891.hp1 HG02572.hp2 others(1): Show HG00741.hp1 HG01891.hp1 HG02572.hp2 NA19240.hp1	intron_variant	MODIFIER	c.59-597_59-594delGG others(2): Show c.59-597_59-594delGGGA	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1	INFO_REALIGN_3_PRIME	chr8	7895861
chr8:7895881	A A	T T	5	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0002t0002g0003 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0002t0002g0003 a0001c0003t0002g0006 a0001c0004t0001g0009	13	HG00558.hp1 HG00741.hp1 HG01891.hp1 others(10): Show HG00558.hp1 HG00741.hp1 HG01891.hp1 HG02572.hp2 HG02630.hp2 HG02683.hp2 HG02723.hp1 HG03017.hp1 HG03139.hp2 HG03491.hp2 HG04199.hp1 HG04228.hp2 NA19240.hp1	intron_variant	MODIFIER	c.59-593A>T c.59-593A>T	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7895881
chr8:7895883	C C	A A	3	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0004t0001g0009 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0004t0001g0009	7	HG00558.hp1 HG02683.hp2 HG03017.hp1 others(4): Show HG00558.hp1 HG02683.hp2 HG03017.hp1 HG03139.hp2 HG03491.hp2 HG04199.hp1 HG04228.hp2	intron_variant	MODIFIER	c.59-591C>A c.59-591C>A	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7895883
chr8:7895884	A A	G G	1	a0001c0003t0002g0006 a0001c0003t0002g0006	2	HG02630.hp2 HG02723.hp1 HG02630.hp2 HG02723.hp1	intron_variant	MODIFIER	c.59-590A>G c.59-590A>G	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7895884
chr8:7896043	A A	G G	1	a0001c0001t0001g0008 a0001c0001t0001g0008	1	HG03139.hp2 HG03139.hp2	intron_variant	MODIFIER	c.59-431A>G c.59-431A>G	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7896043
chr8:7896181	G G	A A	3	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0004t0001g0009 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0004t0001g0009	7	HG00558.hp1 HG02683.hp2 HG03017.hp1 others(4): Show HG00558.hp1 HG02683.hp2 HG03017.hp1 HG03139.hp2 HG03491.hp2 HG04199.hp1 HG04228.hp2	intron_variant	MODIFIER	c.59-293G>A c.59-293G>A	DEFB4A	ENSG00000171711.3	transcript	ENST00000302247.3	protein_coding	1/1		chr8	7896181

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DEFB4A_chr8_7889677_7901716 Genic Haplotype Structure on iGV

Translation Multiple Alignment View

Gene Summary (with MANE)

Amino acid(protein) Level Haplotype Info (Total: 1)

Coding Level Haplotype Info (Total: 4)

Transcript Level Haplotype Info (Total: 5)

Genebody Level Haplotype Info (Total: 11)

Haplotype Details by Sample (Haploid Level) (Total: 94)

Amino acid(protein) Level Haplotype Related Variants (Effect to Protein Coding Variants) (Total: 1)

Coding Level Variants (On coding region but no effect to protein coding variants: Synonymous Mutations) (Total: 3)

Transcript Level Haplotype Variants (Exon) (Total: 0)

Genebody Level Haplotype Variants (Intron) (Total: 45)

Annotation (Repeats)

Annotation (SNP Array)