Joint Open Genome and Omics Platform (JoGo)

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Item	Value
geneid	504180
ensemblid	ENSG00000186599.8
hgncid	29930
symbol	DEFB105B
name	defensin beta 105B
refseq_nuc	NM_001040703.3
refseq_prot	NP_001035793.1
ensembl_nuc	ENST00000335510.7
ensembl_prot	ENSP00000335281.6
mane_status	MANE Select
chr	chr8
start	7487679
end	7489593
strand	+
ver	v1.2
region	chr8:7487679-7489593
region5000	chr8:7482679-7494593
regionname0	DEFB105B_chr8_7487679_7489593
regionname5000	DEFB105B_chr8_7482679_7494593

ahapid	grch38/ chm13v2	alen	total	AFR	AMR	EAS	SAS	JPT	regionname	genename	aa	chr	start	end
a0001	0/0	78	128	33	16	63	16	53	DEFB105B_chr8_7482679_7494593	DEFB105B	MALIR others(73): Show MALIRKTFYFLFAMFFILVQLPSGCQAGLDFSQPFPSGEFAVCESCKLGR GKCRKECLENEKPDGNCRLNFLCCRQRI	chr8	7482679	7494593
a0002	0/0	78	6	0	0	6	0	4	DEFB105B_chr8_7482679_7494593	DEFB105B	MALNR others(73): Show MALNRKTFYFLFAMFFILVQLPSGCQAGLDFSQPFPSGEFAVCESCKLGR GKCRKECLENEKPDGNCRLNFLCCRQRI	chr8	7482679	7494593
a0003	0/0	78	1	1	0	0	0	0	DEFB105B_chr8_7482679_7494593	DEFB105B	MALIR others(73): Show MALIRKTFYFLFAMFFILVQLPSGCQAGLDFSQPFPSSEFAVCESCKLGR GKCRKECLENEKPDGNCRLNFLCCRQRI	chr8	7482679	7494593
a0004	0/0	78	1	0	0	1	0	1	DEFB105B_chr8_7482679_7494593	DEFB105B	MALIR others(73): Show MALIRKTFYFLFAMFFILVQLPSGCQAGLDFSQPFPSGEFAVCESCKLGR GKCRKECLENEKPDGNCRLNFLYCRQRI	chr8	7482679	7494593

achapid	grch38/ chm13v2	clen	total	AFR	AMR	EAS	SAS	regionname	genename	cseq	chr	start	end
a0001c0001	0/0	234	128	33	16	63	16	DEFB105B_chr8_7482679_7494593	DEFB105B	ATGGC others(229): Show ATGGCCCTGATCAGGAAGACATTTTATTTTCTATTTGCTATGTTCTTCAT TTTGGTTCAACTGCCATCAGGGTGCCAGGCAGGACTTGATTTTTCCCAAC CATTTCCATCAGGTGAGTTTGCTGTCTGTGAGTCGTGCAAGCTTGGTCGG GGAAAATGCAGGAAGGAGTGCTTGGAGAATGAGAAGCCCGATGGAAATTG CAGGCTGAACTTTCTCTGCTGCAGACAGAGGATC	chr8	7482679	7494593
a0002c0002	0/0	234	6	0	0	6	0	DEFB105B_chr8_7482679_7494593	DEFB105B	ATGGC others(229): Show ATGGCCCTGAACAGGAAGACATTTTATTTTCTATTTGCTATGTTCTTCAT TTTGGTTCAACTGCCATCAGGGTGCCAGGCAGGACTTGATTTTTCCCAAC CATTTCCATCAGGTGAGTTTGCTGTCTGTGAGTCGTGCAAGCTTGGTCGG GGAAAATGCAGGAAGGAGTGCTTGGAGAATGAGAAGCCCGATGGAAATTG CAGGCTGAACTTTCTCTGCTGCAGACAGAGGATC	chr8	7482679	7494593
a0003c0003	0/0	234	1	1	0	0	0	DEFB105B_chr8_7482679_7494593	DEFB105B	ATGGC others(229): Show ATGGCCCTGATCAGGAAGACATTTTATTTTCTATTTGCTATGTTCTTCAT TTTGGTTCAACTGCCATCAGGGTGCCAGGCAGGACTTGATTTTTCCCAAC CATTTCCATCAAGTGAGTTTGCTGTCTGTGAGTCGTGCAAGCTTGGTCGG GGAAAATGCAGGAAGGAGTGCTTGGAGAATGAGAAGCCCGATGGAAATTG CAGGCTGAACTTTCTCTGCTGCAGACAGAGGATC	chr8	7482679	7494593
a0004c0004	0/0	234	1	0	0	1	0	DEFB105B_chr8_7482679_7494593	DEFB105B	ATGGC others(229): Show ATGGCCCTGATCAGGAAGACATTTTATTTTCTATTTGCTATGTTCTTCAT TTTGGTTCAACTGCCATCAGGGTGCCAGGCAGGACTTGATTTTTCCCAAC CATTTCCATCAGGTGAGTTTGCTGTCTGTGAGTCGTGCAAGCTTGGTCGG GGAAAATGCAGGAAGGAGTGCTTGGAGAATGAGAAGCCCGATGGAAATTG CAGGCTGAACTTTCTCTACTGCAGACAGAGGATC	chr8	7482679	7494593

acthapid	grch38 chm13v2	tlen	total	AFR	AMR	EAS	SAS	regionname	genename	tseq	chr	start	end
a0001c0001t0001	0/0	321	91	21	12	45	13	DEFB105B_chr8_7482679_7494593	DEFB105B	AAGGA others(316): Show AAGGAAATCCCAATCTCTATTCCGAAGAGTCTTCCCTAAAAGATGGCCCT GATCAGGAAGACATTTTATTTTCTATTTGCTATGTTCTTCATTTTGGTTC AACTGCCATCAGGGTGCCAGGCAGGACTTGATTTTTCCCAACCATTTCCA TCAGGTGAGTTTGCTGTCTGTGAGTCGTGCAAGCTTGGTCGGGGAAAATG CAGGAAGGAGTGCTTGGAGAATGAGAAGCCCGATGGAAATTGCAGGCTGA ACTTTCTCTGCTGCAGACAGAGGATCTGACAAACCAGACCAGCACACTTC TGGCCTTAGAAGCAGACCTGG	chr8	7482679	7494593
a0001c0001t0002	0/0	321	37	12	4	18	3	DEFB105B_chr8_7482679_7494593	DEFB105B	AAGGA others(316): Show AAGGAAATCCCAATCTCTATTCTGAAGAGTCTTCCCTAAAAGATGGCCCT GATCAGGAAGACATTTTATTTTCTATTTGCTATGTTCTTCATTTTGGTTC AACTGCCATCAGGGTGCCAGGCAGGACTTGATTTTTCCCAACCATTTCCA TCAGGTGAGTTTGCTGTCTGTGAGTCGTGCAAGCTTGGTCGGGGAAAATG CAGGAAGGAGTGCTTGGAGAATGAGAAGCCCGATGGAAATTGCAGGCTGA ACTTTCTCTGCTGCAGACAGAGGATCTGACAAACCAGACCAGCACACTTC TGGCCTTAGAAGCAGACCTGG	chr8	7482679	7494593
a0002c0002t0001	0/0	321	6	0	0	6	0	DEFB105B_chr8_7482679_7494593	DEFB105B	AAGGA others(316): Show AAGGAAATCCCAATCTCTATTCCGAAGAGTCTTCCCTAAAAGATGGCCCT GAACAGGAAGACATTTTATTTTCTATTTGCTATGTTCTTCATTTTGGTTC AACTGCCATCAGGGTGCCAGGCAGGACTTGATTTTTCCCAACCATTTCCA TCAGGTGAGTTTGCTGTCTGTGAGTCGTGCAAGCTTGGTCGGGGAAAATG CAGGAAGGAGTGCTTGGAGAATGAGAAGCCCGATGGAAATTGCAGGCTGA ACTTTCTCTGCTGCAGACAGAGGATCTGACAAACCAGACCAGCACACTTC TGGCCTTAGAAGCAGACCTGG	chr8	7482679	7494593
a0003c0003t0002	0/0	321	1	1	0	0	0	DEFB105B_chr8_7482679_7494593	DEFB105B	AAGGA others(316): Show AAGGAAATCCCAATCTCTATTCTGAAGAGTCTTCCCTAAAAGATGGCCCT GATCAGGAAGACATTTTATTTTCTATTTGCTATGTTCTTCATTTTGGTTC AACTGCCATCAGGGTGCCAGGCAGGACTTGATTTTTCCCAACCATTTCCA TCAAGTGAGTTTGCTGTCTGTGAGTCGTGCAAGCTTGGTCGGGGAAAATG CAGGAAGGAGTGCTTGGAGAATGAGAAGCCCGATGGAAATTGCAGGCTGA ACTTTCTCTGCTGCAGACAGAGGATCTGACAAACCAGACCAGCACACTTC TGGCCTTAGAAGCAGACCTGG	chr8	7482679	7494593
a0004c0004t0001	0/0	321	1	0	0	1	0	DEFB105B_chr8_7482679_7494593	DEFB105B	AAGGA others(316): Show AAGGAAATCCCAATCTCTATTCCGAAGAGTCTTCCCTAAAAGATGGCCCT GATCAGGAAGACATTTTATTTTCTATTTGCTATGTTCTTCATTTTGGTTC AACTGCCATCAGGGTGCCAGGCAGGACTTGATTTTTCCCAACCATTTCCA TCAGGTGAGTTTGCTGTCTGTGAGTCGTGCAAGCTTGGTCGGGGAAAATG CAGGAAGGAGTGCTTGGAGAATGAGAAGCCCGATGGAAATTGCAGGCTGA ACTTTCTCTACTGCAGACAGAGGATCTGACAAACCAGACCAGCACACTTC TGGCCTTAGAAGCAGACCTGG	chr8	7482679	7494593

actghapid	grch38/ chm13v2	total	AFR	AMR	EAS	SAS	regionname	genename	chr	start	end
a0001c0001t0001g0001	0/0	25	0	4	17	4	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
a0001c0001t0001g0002	0/0	36	9	5	17	5	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
a0001c0001t0001g0004	0/0	11	7	2	1	1	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
a0001c0001t0001g0005	0/0	5	0	0	5	0	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
a0001c0001t0001g0006	0/0	3	0	1	1	1	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
a0001c0001t0001g0007	0/0	1	0	0	1	0	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
a0001c0001t0001g0008	0/0	2	2	0	0	0	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
a0001c0001t0001g0009	0/0	2	0	0	2	0	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
a0001c0001t0001g0014	0/0	1	0	0	0	1	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
a0001c0001t0001g0015	0/0	1	0	0	1	0	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
a0001c0001t0001g0019	0/0	1	0	0	0	1	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
a0001c0001t0001g0021	0/0	1	1	0	0	0	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
a0001c0001t0001g0022	0/0	1	1	0	0	0	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
a0001c0001t0001g0023	0/0	1	1	0	0	0	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
a0001c0001t0002g0001	0/0	7	3	0	4	0	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
a0001c0001t0002g0003	0/0	22	5	4	11	2	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
a0001c0001t0002g0007	0/0	1	1	0	0	0	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
a0001c0001t0002g0010	0/0	1	1	0	0	0	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
a0001c0001t0002g0011	0/0	1	0	0	1	0	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
a0001c0001t0002g0012	0/0	1	0	0	1	0	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
a0001c0001t0002g0013	0/0	1	0	0	1	0	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
a0001c0001t0002g0016	0/0	1	1	0	0	0	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
a0001c0001t0002g0018	0/0	1	1	0	0	0	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
a0001c0001t0002g0020	0/0	1	0	0	0	1	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
a0002c0002t0001g0001	0/0	6	0	0	6	0	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
a0003c0003t0002g0003	0/0	1	1	0	0	0	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
a0004c0004t0001g0017	0/0	1	0	0	1	0	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593

sampleid	ID haplotypeid	ahapid	chapid	thapid	ghapid	gpopname	popname	regionname	genename	chr	start	end
HG00673	hp1	a0001	c0001	t0002	g0001	EAS	CHS	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG00673	hp2	a0001	c0001	t0001	g0002	EAS	CHS	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG00741	hp1	a0001	c0001	t0001	g0002	AMR	PUR	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG00741	hp2	a0001	c0001	t0001	g0002	AMR	PUR	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG01099	hp1	a0001	c0001	t0001	g0001	AMR	PUR	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG01099	hp2	a0001	c0001	t0001	g0001	AMR	PUR	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG01168	hp1	a0001	c0001	t0001	g0004	AMR	PUR	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG01168	hp2	a0001	c0001	t0001	g0002	AMR	PUR	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG01243	hp1	a0001	c0001	t0001	g0004	AMR	PUR	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG01243	hp2	a0001	c0001	t0001	g0002	AMR	PUR	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG01346	hp1	a0001	c0001	t0002	g0003	AMR	CLM	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG01346	hp2	a0001	c0001	t0001	g0006	AMR	CLM	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG01358	hp1	a0001	c0001	t0002	g0003	AMR	CLM	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG01358	hp2	a0001	c0001	t0002	g0003	AMR	CLM	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG01361	hp1	a0001	c0001	t0001	g0001	AMR	CLM	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG01361	hp2	a0001	c0001	t0002	g0003	AMR	CLM	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG01884	hp1	a0001	c0001	t0001	g0002	AFR	ACB	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG01884	hp2	a0001	c0001	t0002	g0003	AFR	ACB	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG01975	hp1	a0001	c0001	t0001	g0002	AMR	PEL	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG01975	hp2	a0001	c0001	t0001	g0001	AMR	PEL	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG02015	hp1	a0001	c0001	t0001	g0009	EAS	KHV	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG02015	hp2	a0001	c0001	t0001	g0004	EAS	KHV	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG02027	hp1	a0001	c0001	t0002	g0001	EAS	KHV	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG02027	hp2	a0001	c0001	t0001	g0001	EAS	KHV	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG02055	hp1	a0001	c0001	t0001	g0021	AFR	ACB	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG02055	hp2	a0001	c0001	t0001	g0004	AFR	ACB	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG02056	hp1	a0001	c0001	t0001	g0002	EAS	KHV	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG02056	hp2	a0001	c0001	t0002	g0003	EAS	KHV	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG02129	hp1	a0001	c0001	t0001	g0009	EAS	KHV	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG02129	hp2	a0001	c0001	t0001	g0002	EAS	KHV	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG02451	hp1	a0001	c0001	t0001	g0002	AFR	ACB	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG02451	hp2	a0001	c0001	t0001	g0002	AFR	ACB	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG02615	hp1	a0001	c0001	t0002	g0007	AFR	GWD	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG02615	hp2	a0003	c0003	t0002	g0003	AFR	GWD	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG02683	hp1	a0001	c0001	t0001	g0001	SAS	PJL	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG02683	hp2	a0001	c0001	t0002	g0020	SAS	PJL	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG02735	hp1	a0001	c0001	t0001	g0001	SAS	PJL	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG02735	hp2	a0001	c0001	t0001	g0006	SAS	PJL	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG02738	hp1	a0001	c0001	t0001	g0002	SAS	PJL	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG02738	hp2	a0001	c0001	t0001	g0001	SAS	PJL	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG02809	hp1	a0001	c0001	t0002	g0016	AFR	GWD	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG02809	hp2	a0001	c0001	t0002	g0018	AFR	GWD	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG02886	hp1	a0001	c0001	t0001	g0002	AFR	GWD	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG02886	hp2	a0001	c0001	t0001	g0004	AFR	GWD	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG02897	hp1	a0001	c0001	t0002	g0003	AFR	GWD	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG02897	hp2	a0001	c0001	t0001	g0022	AFR	GWD	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG02922	hp1	a0001	c0001	t0001	g0004	AFR	ESN	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG02922	hp2	a0001	c0001	t0001	g0008	AFR	ESN	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG02965	hp1	a0001	c0001	t0001	g0004	AFR	ESN	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG02965	hp2	a0001	c0001	t0001	g0002	AFR	ESN	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG03041	hp1	a0001	c0001	t0001	g0002	AFR	GWD	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG03041	hp2	a0001	c0001	t0001	g0002	AFR	GWD	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG03225	hp1	a0001	c0001	t0002	g0001	AFR	MSL	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG03225	hp2	a0001	c0001	t0002	g0001	AFR	MSL	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG03486	hp1	a0001	c0001	t0002	g0003	AFR	MSL	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG03486	hp2	a0001	c0001	t0001	g0004	AFR	MSL	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG03492	hp1	a0001	c0001	t0001	g0002	SAS	PJL	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG03492	hp2	a0001	c0001	t0001	g0019	SAS	PJL	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG03654	hp1	a0001	c0001	t0001	g0002	SAS	PJL	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG03654	hp2	a0001	c0001	t0001	g0004	SAS	PJL	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG03834	hp1	a0001	c0001	t0001	g0002	SAS	BEB	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG03834	hp2	a0001	c0001	t0001	g0001	SAS	BEB	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG03942	hp1	a0001	c0001	t0001	g0002	SAS	BEB	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG03942	hp2	a0001	c0001	t0002	g0003	SAS	BEB	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG04228	hp1	a0001	c0001	t0001	g0014	SAS	STU	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG04228	hp2	a0001	c0001	t0002	g0003	SAS	STU	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18522	hp1	a0001	c0001	t0002	g0001	AFR	YRI	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18522	hp2	a0001	c0001	t0001	g0002	AFR	YRI	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18747	hp1	a0002	c0002	t0001	g0001	EAS	CHB	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18747	hp2	a0002	c0002	t0001	g0001	EAS	CHB	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18906	hp1	a0001	c0001	t0002	g0003	AFR	YRI	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18906	hp2	a0001	c0001	t0001	g0008	AFR	YRI	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18939	hp1	a0001	c0001	t0001	g0002	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18939	hp2	a0001	c0001	t0001	g0001	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18943	hp1	a0001	c0001	t0002	g0003	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18943	hp2	a0001	c0001	t0001	g0006	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18947	hp1	a0001	c0001	t0001	g0002	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18947	hp2	a0001	c0001	t0002	g0003	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18952	hp1	a0001	c0001	t0002	g0001	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18952	hp2	a0002	c0002	t0001	g0001	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18956	hp1	a0001	c0001	t0002	g0013	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18956	hp2	a0001	c0001	t0001	g0007	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18959	hp1	a0001	c0001	t0001	g0001	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18959	hp2	a0001	c0001	t0002	g0003	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18963	hp1	a0001	c0001	t0001	g0005	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18963	hp2	a0001	c0001	t0001	g0001	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18968	hp1	a0001	c0001	t0002	g0003	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18968	hp2	a0001	c0001	t0001	g0002	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18969	hp1	a0001	c0001	t0002	g0003	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18969	hp2	a0001	c0001	t0001	g0001	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18971	hp1	a0001	c0001	t0001	g0001	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18971	hp2	a0002	c0002	t0001	g0001	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18973	hp1	a0001	c0001	t0001	g0002	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18973	hp2	a0001	c0001	t0001	g0001	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18974	hp1	a0001	c0001	t0001	g0001	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18974	hp2	a0001	c0001	t0002	g0012	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18978	hp1	a0001	c0001	t0001	g0005	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18978	hp2	a0001	c0001	t0001	g0001	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18979	hp1	a0001	c0001	t0001	g0001	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18979	hp2	a0002	c0002	t0001	g0001	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18984	hp1	a0001	c0001	t0002	g0003	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18984	hp2	a0001	c0001	t0001	g0001	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18988	hp1	a0001	c0001	t0001	g0015	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18988	hp2	a0001	c0001	t0001	g0005	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18993	hp1	a0001	c0001	t0001	g0001	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18993	hp2	a0001	c0001	t0002	g0003	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18994	hp1	a0001	c0001	t0001	g0001	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18994	hp2	a0001	c0001	t0001	g0002	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18999	hp1	a0001	c0001	t0001	g0002	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA18999	hp2	a0004	c0004	t0001	g0017	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA19005	hp1	a0001	c0001	t0001	g0001	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA19005	hp2	a0001	c0001	t0002	g0003	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA19010	hp1	a0001	c0001	t0001	g0002	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA19010	hp2	a0001	c0001	t0002	g0011	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA19012	hp1	a0001	c0001	t0002	g0001	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA19012	hp2	a0001	c0001	t0001	g0002	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA19063	hp1	a0001	c0001	t0001	g0005	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA19063	hp2	a0001	c0001	t0001	g0001	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA19064	hp1	a0001	c0001	t0002	g0003	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA19064	hp2	a0001	c0001	t0001	g0002	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA19065	hp1	a0001	c0001	t0001	g0001	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA19065	hp2	a0002	c0002	t0001	g0001	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA19066	hp1	a0001	c0001	t0001	g0002	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA19066	hp2	a0001	c0001	t0002	g0003	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA19070	hp1	a0001	c0001	t0001	g0002	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA19070	hp2	a0001	c0001	t0001	g0005	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA19080	hp1	a0001	c0001	t0001	g0002	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA19080	hp2	a0001	c0001	t0001	g0001	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA19090	hp1	a0001	c0001	t0001	g0002	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA19090	hp2	a0001	c0001	t0001	g0002	EAS	JPT	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA20129	hp1	a0001	c0001	t0001	g0023	AFR	ASW	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA20129	hp2	a0001	c0001	t0001	g0004	AFR	ASW	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG06807	hp1	a0001	c0001	t0002	g0003	AFR	USA	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
HG06807	hp2	a0001	c0001	t0001	g0004	AFR	USA	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA20300	hp1	a0001	c0001	t0002	g0010	AFR	USA	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593
NA20300	hp2	a0001	c0001	t0001	g0002	AFR	USA	DEFB105B_chr8_7482679_7494593	DEFB105B	chr8	7482679	7494593

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	chr	pos
chr8:7487731	T T	A A	1	a0002 a0002	6	NA18747.hp1 NA18747.hp2 NA18952.hp2 others(3): Show NA18747.hp1 NA18747.hp2 NA18952.hp2 NA18971.hp2 NA18979.hp2 NA19065.hp2	missense_variant	MODERATE	c.11T>A c.11T>A	p.Ile4Asn p.Ile4Asn	DEFB105B	ENSG00000186599.8	transcript	ENST00000335510.7	protein_coding	1/3	53/321	11/237	4/78	chr8	7487731
chr8:7488177	G G	A A	1	a0003 a0003	1	HG02615.hp2 HG02615.hp2	missense_variant&splice_region_variant	MODERATE	c.112G>A c.112G>A	p.Gly38Ser p.Gly38Ser	DEFB105B	ENSG00000186599.8	transcript	ENST00000335510.7	protein_coding	2/3	154/321	112/237	38/78	chr8	7488177
chr8:7489532	G G	A A	1	a0004 a0004	1	NA18999.hp2 NA18999.hp2	missense_variant	MODERATE	c.218G>A c.218G>A	p.Cys73Tyr p.Cys73Tyr	DEFB105B	ENSG00000186599.8	transcript	ENST00000335510.7	protein_coding	3/3	260/321	218/237	73/78	chr8	7489532

view	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

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
	chr8:7487701	C C	T T	2	a0001c0001t0002 a0003c0003t0002 a0001c0001t0002 a0003c0003t0002	38	HG00673.hp1 HG01346.hp1 HG01358.hp1 others(35): Show HG00673.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01884.hp2 HG02027.hp1 HG02056.hp2 HG02615.hp1 HG02615.hp2 HG02683.hp2 HG02809.hp1 HG02809.hp2 HG02897.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03942.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18943.hp1 NA18947.hp2 NA18952.hp1 NA18956.hp1 NA18959.hp2 NA18968.hp1 NA18969.hp1 NA18974.hp2 NA18984.hp1 NA18993.hp2 NA19005.hp2 NA19010.hp2 NA19012.hp1 NA19064.hp1 NA19066.hp2 NA20300.hp1	5_prime_UTR_premature_start_codon_gain_variant	LOW	c.-20C>T c.-20C>T		DEFB105B	ENSG00000186599.8	transcript	ENST00000335510.7	protein_coding	1/3						chr8	7487701

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
chr8:7487817	T T	C C	6	a0001c0001t0002g0003 a0001c0001t0002g0010 a0001c0001t0002g0011 others(3): Show a0001c0001t0002g0003 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0003c0003t0002g0003	27	HG01346.hp1 HG01358.hp1 HG01358.hp2 others(24): Show HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01884.hp2 HG02056.hp2 HG02615.hp2 HG02897.hp1 HG03486.hp1 HG03942.hp2 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18943.hp1 NA18947.hp2 NA18956.hp1 NA18959.hp2 NA18968.hp1 NA18969.hp1 NA18974.hp2 NA18984.hp1 NA18993.hp2 NA19005.hp2 NA19010.hp2 NA19064.hp1 NA19066.hp2 NA20300.hp1	intron_variant	MODIFIER	c.70+27T>C c.70+27T>C	DEFB105B	ENSG00000186599.8	transcript	ENST00000335510.7	protein_coding	1/2		chr8	7487817
chr8:7487835	C C	A A	1	a0001c0001t0001g0014 a0001c0001t0001g0014	1	HG04228.hp1 HG04228.hp1	intron_variant	MODIFIER	c.70+45C>A c.70+45C>A	DEFB105B	ENSG00000186599.8	transcript	ENST00000335510.7	protein_coding	1/2		chr8	7487835
chr8:7487871	C C	T T	1	a0001c0001t0001g0005 a0001c0001t0001g0005	5	NA18963.hp1 NA18978.hp1 NA18988.hp2 others(2): Show NA18963.hp1 NA18978.hp1 NA18988.hp2 NA19063.hp1 NA19070.hp2	intron_variant	MODIFIER	c.70+81C>T c.70+81C>T	DEFB105B	ENSG00000186599.8	transcript	ENST00000335510.7	protein_coding	1/2		chr8	7487871
chr8:7487944	AT AT	A A	9	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0015 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0016 a0001c0001t0002g0018 a0002c0002t0001g0001 a0004c0004t0001g0017	46	HG00673.hp1 HG01099.hp1 HG01099.hp2 others(43): Show HG00673.hp1 HG01099.hp1 HG01099.hp2 HG01346.hp2 HG01361.hp1 HG01975.hp2 HG02027.hp1 HG02027.hp2 HG02683.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG03225.hp1 HG03225.hp2 HG03834.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18943.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18963.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18984.hp2 NA18988.hp1 NA18993.hp1 NA18994.hp1 NA18999.hp2 NA19005.hp1 NA19012.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19080.hp2	intron_variant	MODIFIER	c.70+167delT c.70+167delT	DEFB105B	ENSG00000186599.8	transcript	ENST00000335510.7	protein_coding	1/2	INFO_REALIGN_3_PRIME	chr8	7487944
chr8:7487944	ATT ATT	A A	6	a0001c0001t0001g0007 a0001c0001t0002g0003 a0001c0001t0002g0007 others(3): Show a0001c0001t0001g0007 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0011 a0003c0003t0002g0003	27	HG01346.hp1 HG01358.hp1 HG01358.hp2 others(24): Show HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01884.hp2 HG02056.hp2 HG02615.hp1 HG02615.hp2 HG02897.hp1 HG03486.hp1 HG03942.hp2 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18943.hp1 NA18947.hp2 NA18956.hp2 NA18959.hp2 NA18968.hp1 NA18969.hp1 NA18984.hp1 NA18993.hp2 NA19005.hp2 NA19010.hp2 NA19064.hp1 NA19066.hp2 NA20300.hp1	intron_variant	MODIFIER	c.70+166_70+167delTT c.70+166_70+167delTT	DEFB105B	ENSG00000186599.8	transcript	ENST00000335510.7	protein_coding	1/2	INFO_REALIGN_3_PRIME	chr8	7487944
chr8:7488040	G G	C C	1	a0001c0001t0001g0015 a0001c0001t0001g0015	1	NA18988.hp1 NA18988.hp1	intron_variant	MODIFIER	c.71-96G>C c.71-96G>C	DEFB105B	ENSG00000186599.8	transcript	ENST00000335510.7	protein_coding	1/2		chr8	7488040
chr8:7488236	G G	C C	23	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(20): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0020 a0002c0002t0001g0001 a0003c0003t0002g0003 a0004c0004t0001g0017	122	HG00673.hp1 HG00673.hp2 HG00741.hp1 others(119): Show HG00673.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01099.hp1 HG01099.hp2 HG01168.hp2 HG01243.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG01884.hp2 HG01975.hp1 HG01975.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02129.hp1 HG02129.hp2 HG02451.hp1 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18947.hp1 NA18947.hp2 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp1 NA18963.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19080.hp1 NA19080.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp1 NA20300.hp2	intron_variant	MODIFIER	c.112+59G>C c.112+59G>C	DEFB105B	ENSG00000186599.8	transcript	ENST00000335510.7	protein_coding	2/2		chr8	7488236
chr8:7488320	T T	A A	1	a0001c0001t0001g0008 a0001c0001t0001g0008	2	HG02922.hp2 NA18906.hp2 HG02922.hp2 NA18906.hp2	intron_variant	MODIFIER	c.112+143T>A c.112+143T>A	DEFB105B	ENSG00000186599.8	transcript	ENST00000335510.7	protein_coding	2/2		chr8	7488320
chr8:7488391	T T	C C	1	a0001c0001t0002g0016 a0001c0001t0002g0016	1	HG02809.hp1 HG02809.hp1	intron_variant	MODIFIER	c.112+214T>C c.112+214T>C	DEFB105B	ENSG00000186599.8	transcript	ENST00000335510.7	protein_coding	2/2		chr8	7488391
chr8:7488403	T T	C C	1	a0001c0001t0002g0010 a0001c0001t0002g0010	1	NA20300.hp1 NA20300.hp1	intron_variant	MODIFIER	c.112+226T>C c.112+226T>C	DEFB105B	ENSG00000186599.8	transcript	ENST00000335510.7	protein_coding	2/2		chr8	7488403
chr8:7488513	C C	T T	1	a0001c0001t0001g0021 a0001c0001t0001g0021	1	HG02055.hp1 HG02055.hp1	intron_variant	MODIFIER	c.112+336C>T c.112+336C>T	DEFB105B	ENSG00000186599.8	transcript	ENST00000335510.7	protein_coding	2/2		chr8	7488513
chr8:7488515	C C	T T	1	a0001c0001t0001g0023 a0001c0001t0001g0023	1	NA20129.hp1 NA20129.hp1	intron_variant	MODIFIER	c.112+338C>T c.112+338C>T	DEFB105B	ENSG00000186599.8	transcript	ENST00000335510.7	protein_coding	2/2		chr8	7488515
chr8:7488575	T T	C C	2	a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0011 a0001c0001t0002g0013	2	NA18956.hp1 NA19010.hp2 NA18956.hp1 NA19010.hp2	intron_variant	MODIFIER	c.112+398T>C c.112+398T>C	DEFB105B	ENSG00000186599.8	transcript	ENST00000335510.7	protein_coding	2/2		chr8	7488575
chr8:7488668	C C	A A	1	a0001c0001t0001g0019 a0001c0001t0001g0019	1	HG03492.hp2 HG03492.hp2	intron_variant	MODIFIER	c.112+491C>A c.112+491C>A	DEFB105B	ENSG00000186599.8	transcript	ENST00000335510.7	protein_coding	2/2		chr8	7488668
chr8:7488669	C C	T T	2	a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0016 a0001c0001t0002g0018	2	HG02809.hp1 HG02809.hp2 HG02809.hp1 HG02809.hp2	intron_variant	MODIFIER	c.112+492C>T c.112+492C>T	DEFB105B	ENSG00000186599.8	transcript	ENST00000335510.7	protein_coding	2/2		chr8	7488669
chr8:7488855	A A	G G	1	a0001c0001t0001g0022 a0001c0001t0001g0022	1	HG02897.hp2 HG02897.hp2	intron_variant	MODIFIER	c.113-572A>G c.113-572A>G	DEFB105B	ENSG00000186599.8	transcript	ENST00000335510.7	protein_coding	2/2		chr8	7488855
chr8:7488943	CCTAAA CCTAAA	C C	1	a0001c0001t0001g0006 a0001c0001t0001g0006	3	HG01346.hp2 HG02735.hp2 NA18943.hp2 HG01346.hp2 HG02735.hp2 NA18943.hp2	intron_variant	MODIFIER	c.113-481_113-477del others(5): Show c.113-481_113-477delAAACT	DEFB105B	ENSG00000186599.8	transcript	ENST00000335510.7	protein_coding	2/2	INFO_REALIGN_3_PRIME	chr8	7488943
chr8:7488955	TA TA	T T	18	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0020 a0002c0002t0001g0001 a0003c0003t0002g0003 a0004c0004t0001g0017	77	HG00673.hp1 HG01099.hp1 HG01099.hp2 others(74): Show HG00673.hp1 HG01099.hp1 HG01099.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp2 HG01975.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02129.hp1 HG02615.hp1 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02897.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03834.hp2 HG03942.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18947.hp2 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18999.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19012.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19080.hp2 NA20300.hp1	intron_variant	MODIFIER	c.113-466delA c.113-466delA	DEFB105B	ENSG00000186599.8	transcript	ENST00000335510.7	protein_coding	2/2	INFO_REALIGN_3_PRIME	chr8	7488955
chr8:7488961	A A	G G	1	a0004c0004t0001g0017 a0004c0004t0001g0017	1	NA18999.hp2 NA18999.hp2	intron_variant	MODIFIER	c.113-466A>G c.113-466A>G	DEFB105B	ENSG00000186599.8	transcript	ENST00000335510.7	protein_coding	2/2		chr8	7488961
chr8:7489021	C C	T T	1	a0001c0001t0001g0006 a0001c0001t0001g0006	3	HG01346.hp2 HG02735.hp2 NA18943.hp2 HG01346.hp2 HG02735.hp2 NA18943.hp2	intron_variant	MODIFIER	c.113-406C>T c.113-406C>T	DEFB105B	ENSG00000186599.8	transcript	ENST00000335510.7	protein_coding	2/2		chr8	7489021
chr8:7489022	G G	A A	1	a0001c0001t0002g0020 a0001c0001t0002g0020	1	HG02683.hp2 HG02683.hp2	intron_variant	MODIFIER	c.113-405G>A c.113-405G>A	DEFB105B	ENSG00000186599.8	transcript	ENST00000335510.7	protein_coding	2/2		chr8	7489022
chr8:7489383	G G	C C	2	a0001c0001t0002g0011 a0004c0004t0001g0017 a0001c0001t0002g0011 a0004c0004t0001g0017	2	NA18999.hp2 NA19010.hp2 NA18999.hp2 NA19010.hp2	intron_variant	MODIFIER	c.113-44G>C c.113-44G>C	DEFB105B	ENSG00000186599.8	transcript	ENST00000335510.7	protein_coding	2/2		chr8	7489383

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DEFB105B_chr8_7482679_7494593 Genic Haplotype Structure on iGV

Translation Multiple Alignment View

Gene Summary (with MANE)

Amino acid(protein) Level Haplotype Info (Total: 4)

Coding Level Haplotype Info (Total: 4)

Transcript Level Haplotype Info (Total: 5)

Genebody Level Haplotype Info (Total: 27)

Haplotype Details by Sample (Haploid Level) (Total: 136)

Amino acid(protein) Level Haplotype Related Variants (Effect to Protein Coding Variants) (Total: 3)

Coding Level Variants (On coding region but no effect to protein coding variants: Synonymous Mutations) (Total: 0)

Transcript Level Haplotype Variants (Exon) (Total: 1)

Genebody Level Haplotype Variants (Intron) (Total: 22)

Annotation (Repeats)

Annotation (SNP Array)