Joint Open Genome and Omics Platform (JoGo)

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geneid	440353
ensemblid	ENSG00000169203.18
hgncid	37491
symbol	NPIPB12
name	nuclear pore complex interacting protein family member B12
refseq_nuc	NM_001395931.1
refseq_prot	NP_001382860.1
ensembl_nuc	ENST00000550665.6
ensembl_prot	ENSP00000447597.2
mane_status	MANE Select
chr	chr16
start	29483534
end	29506408
strand	-
ver	v1.2
region	chr16:29483534-29506408
region5000	chr16:29478534-29511408
regionname0	NPIPB12_chr16_29483534_29506408
regionname5000	NPIPB12_chr16_29478534_29511408

ahapid	grch38/ chm13v2	alen	total	AMR	EAS	EUR	JPT	regionname	genename	aa	chr	start	end
a0001	0/0	970	6	3	3	0	3	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
a0002	0/0	1012	4	3	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
a0003	0/0	928	3	1	2	0	2	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
a0004	0/0	928	2	2	0	0	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
a0005	0/0	636	1	0	1	0	1	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
a0006	0/0	512	1	0	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
a0007	0/0	846	1	0	1	0	1	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
a0008	1/0	928	1	0	0	0	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
a0009	0/0	1012	1	0	1	0	1	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
a0010	0/0	1012	1	1	0	0	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408

chapid	grch38/ chm13v2	clen	total	AMR	EAS	EUR	regionname	genename	cseq	chr	start	end
c0001	0/0	3039	4	3	0	1	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
c0002	0/0	2913	3	3	0	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
c0003	0/0	2787	2	1	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
c0004	0/0	2787	2	2	0	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
c0005	0/0	2913	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
c0006	0/0	2913	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
c0007	0/0	2302	1	0	0	1	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
c0008	0/0	2787	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
c0009	0/0	2913	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
c0010	1/0	2787	1	0	0	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
c0011	0/0	3039	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
c0012	0/0	3039	1	1	0	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
c0013	0/0	2541	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
c0014	0/0	1911	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408

thapid	grch38 chm13v2	tlen	total	AMR	EAS	EUR	regionname	genename	tseq	chr	start	end
t0001	0/0	821	12	4	7	1	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
t0002	1/0	819	8	6	0	1	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
t0003	0/0	821	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408

ghapid	grch38/ chm13v2	total	AMR	EAS	EUR	regionname	genename	chr	start	end
g0001	0/0	1	1	0	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
g0002	0/0	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
g0003	0/0	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
g0004	0/0	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
g0005	0/0	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
g0006	0/0	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
g0007	0/0	1	0	0	1	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
g0008	0/0	1	1	0	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
g0009	0/0	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
g0010	0/0	1	1	0	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
g0011	0/0	1	1	0	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
g0012	0/0	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
g0013	0/0	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
g0014	0/0	1	1	0	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
g0015	0/0	1	1	0	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
g0016	0/0	1	0	0	1	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
g0017	0/0	1	1	0	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
g0018	0/0	1	1	0	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
g0019	0/0	1	1	0	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
g0020	0/0	1	1	0	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
g0021	1/0	1	0	0	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408

achapid	grch38/ chm13v2	clen	total	AMR	EAS	EUR	regionname	genename	cseq	chr	start	end
a0001c0002	0/0	2913	3	3	0	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
a0001c0005	0/0	2913	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
a0001c0006	0/0	2913	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
a0001c0009	0/0	2913	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
a0002c0001	0/0	3039	4	3	0	1	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
a0003c0003	0/0	2787	2	1	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
a0003c0008	0/0	2787	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
a0004c0004	0/0	2787	2	2	0	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
a0005c0014	0/0	1911	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
a0006c0007	0/0	2302	1	0	0	1	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
a0007c0013	0/0	2541	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
a0008c0010	1/0	2787	1	0	0	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
a0009c0011	0/0	3039	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
a0010c0012	0/0	3039	1	1	0	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408

acthapid	grch38 chm13v2	tlen	total	AMR	EAS	EUR	regionname	genename	tseq	chr	start	end
a0001c0002t0001	0/0	3733	3	3	0	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
a0001c0005t0001	0/0	3733	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
a0001c0006t0001	0/0	3733	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
a0001c0009t0001	0/0	3733	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
a0002c0001t0002	0/0	3857	4	3	0	1	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
a0003c0003t0001	0/0	3607	2	1	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
a0003c0008t0001	0/0	3607	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
a0004c0004t0002	0/0	3605	2	2	0	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
a0005c0014t0001	0/0	2731	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
a0006c0007t0001	0/0	3122	1	0	0	1	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
a0007c0013t0003	0/0	3361	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
a0008c0010t0002	1/0	3605	1	0	0	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
a0009c0011t0001	0/0	3859	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408
a0010c0012t0002	0/0	3857	1	1	0	0	NPIPB12_chr16_29478534_29511408	NPIPB12	copy fasta	chr16	29478534	29511408

actghapid	grch38/ chm13v2	total	AMR	EAS	EUR	regionname	genename	chr	start	end
a0001c0002t0001g0008	0/0	1	1	0	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
a0001c0002t0001g0010	0/0	1	1	0	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
a0001c0002t0001g0011	0/0	1	1	0	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
a0001c0005t0001g0003	0/0	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
a0001c0006t0001g0004	0/0	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
a0001c0009t0001g0006	0/0	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
a0002c0001t0002g0016	0/0	1	0	0	1	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
a0002c0001t0002g0018	0/0	1	1	0	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
a0002c0001t0002g0019	0/0	1	1	0	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
a0002c0001t0002g0020	0/0	1	1	0	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
a0003c0003t0001g0001	0/0	1	1	0	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
a0003c0003t0001g0002	0/0	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
a0003c0008t0001g0013	0/0	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
a0004c0004t0002g0014	0/0	1	1	0	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
a0004c0004t0002g0015	0/0	1	1	0	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
a0005c0014t0001g0012	0/0	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
a0006c0007t0001g0007	0/0	1	0	0	1	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
a0007c0013t0003g0005	0/0	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
a0008c0010t0002g0021	1/0	1	0	0	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
a0009c0011t0001g0009	0/0	1	0	1	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
a0010c0012t0002g0017	0/0	1	1	0	0	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408

sampleid	ID haplotypeid	ahapid	chapid	thapid	ghapid	gpopname	popname	regionname	genename	chr	start	end
HG00140	hp1	a0002	c0001	t0002	g0016	EUR	GBR	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
HG00140	hp2	a0006	c0007	t0001	g0007	EUR	GBR	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
HG00741	hp1	a0002	c0001	t0002	g0019	AMR	PUR	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
HG00741	hp2	a0002	c0001	t0002	g0020	AMR	PUR	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
HG01346	hp1	a0003	c0003	t0001	g0001	AMR	CLM	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
HG01346	hp2	a0002	c0001	t0002	g0018	AMR	CLM	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
HG01978	hp1	a0001	c0002	t0001	g0010	AMR	PEL	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
HG01978	hp2	a0001	c0002	t0001	g0011	AMR	PEL	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
HG01981	hp1	a0004	c0004	t0002	g0015	AMR	PEL	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
HG01981	hp2	a0010	c0012	t0002	g0017	AMR	PEL	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
HG02004	hp1	a0001	c0002	t0001	g0008	AMR	PEL	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
HG02004	hp2	a0004	c0004	t0002	g0014	AMR	PEL	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
NA18944	hp1	a0001	c0009	t0001	g0006	EAS	JPT	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
NA18944	hp2	a0001	c0006	t0001	g0004	EAS	JPT	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
NA18972	hp1	a0009	c0011	t0001	g0009	EAS	JPT	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
NA18972	hp2	a0003	c0003	t0001	g0002	EAS	JPT	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
NA18982	hp1	a0005	c0014	t0001	g0012	EAS	JPT	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
NA18982	hp2	a0007	c0013	t0003	g0005	EAS	JPT	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
NA18994	hp1	a0001	c0005	t0001	g0003	EAS	JPT	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
NA18994	hp2	a0003	c0008	t0001	g0013	EAS	JPT	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408
homoSapiens_grch38	hp1	a0008	c0010	t0002	g0021	REF	REF	NPIPB12_chr16_29478534_29511408	NPIPB12	chr16	29478534	29511408

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
chr16:29484181	A A	AGAAGGTG others(119): Show AGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCGCA GACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAG GGTGGAAGGGGAGTGAGCTGACGCTCG	2	a0001 a0009 a0001 a0009	5	HG01978.hp1 HG01978.hp2 HG02004.hp1 others(2): Show HG01978.hp1 HG01978.hp2 HG02004.hp1 NA18944.hp1 NA18972.hp1	disruptive_inframe_insertion	MODERATE	c.2169_2294dupCGAGCG others(120): Show c.2169_2294dupCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCC ACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGC CGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTC	p.Ser765_Glu766insGl others(124): Show p.Ser765_Glu766insGluArgGlnLeuThrProLeuProProSerAl aProProSerAlaAspAspAsnIleLysThrProAlaGluArgLeuArgG lyProLeuProProSerAlaAspAspAsnLeuLysThrProSer	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	2957/3605	2294/2787	765/928	chr16	29484181
chr16:29484237	CGGCAGGT others(869): Show CGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGA AGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCCGCTGA GGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATATTATCAT CTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAA GGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCGCAGACG CTCCCCGCAGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGT GGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAG ATTATCATCCGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTG TCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTG AGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAG CGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGG GTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTG AGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGG TGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAG TGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCGGCTGATGGTGGA AGCGGAATCCGCAGACGCTCAGCAGGTATCTTGATATTATCATCTGCTGA GAGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCT TGAGATTATCATCCGCTGAGGGTGGAA	C C	1	a0005 a0005	1	NA18982.hp1 NA18982.hp1	conservative_inframe_deletion	MODERATE	c.1363_2238del c.1363_2238del	p.Phe455_Ala746del p.Phe455_Ala746del	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	2901/3605	1363/2787	455/928	chr16	29484237
chr16:29484349	C C	CCCCCGCA others(6): Show CCCCCGCAGACGCT	1	a0004 a0004	2	HG01981.hp1 HG02004.hp2 HG01981.hp1 HG02004.hp2	frameshift_variant	HIGH	c.2114_2126dupAGCGTC others(7): Show c.2114_2126dupAGCGTCTGCGGGG	p.Pro710fs p.Pro710fs	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	2789/3605	2126/2787	709/928	chr16	29484349
chr16:29484457	C C	CGCTGAGG others(119): Show CGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATAT TATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGC TCGGAAGGTGTCTTGAGATTATCATCT	1	a0001 a0001	2	NA18944.hp2 NA18994.hp1 NA18944.hp2 NA18994.hp1	disruptive_inframe_insertion	MODERATE	c.2018_2019insAGATGA others(120): Show c.2018_2019insAGATGATAATCTCAAGACACCTTCCGAGCGTCAGCT CACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGA CACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGC	p.Ala673_Asp674insAs others(124): Show p.Ala673_Asp674insAspAspAsnLeuLysThrProSerGluArgGl nLeuThrProLeuProProSerAlaProProSerAlaAspAspAsnIleL ysThrProAlaGluArgLeuArgGlyProLeuProProSerAla	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	2681/3605	2018/2787	673/928	chr16	29484457
chr16:29484475	CCCCCGCA others(6): Show CCCCCGCAGACGCT	C C	3	a0003 a0004 a0007 a0003 a0004 a0007	6	HG01346.hp1 HG01981.hp1 HG02004.hp2 others(3): Show HG01346.hp1 HG01981.hp1 HG02004.hp2 NA18972.hp2 NA18982.hp2 NA18994.hp2	frameshift_variant	HIGH	c.1988_2000delAGCGTC others(7): Show c.1988_2000delAGCGTCTGCGGGG	p.Glu663fs p.Glu663fs	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	2663/3605	1988/2787	663/928	chr16	29484475
chr16:29484488	T T	TCCCCGCA others(119): Show TCCCCGCAGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTG GAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGA TTATCATCCGCTGAGGGTGGAAGCGGC	1	a0009 a0009	1	NA18972.hp1 NA18972.hp1	conservative_inframe_insertion	MODERATE	c.1862_1987dupGCCGCT others(120): Show c.1862_1987dupGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGAC ACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAG CAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGG	p.Gly621_Gly662dup p.Gly621_Gly662dup	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	2650/3605	1987/2787	663/928	chr16	29484488
chr16:29484596	C C	T T	1	a0003 a0003	3	HG01346.hp1 NA18972.hp2 NA18994.hp2 HG01346.hp1 NA18972.hp2 NA18994.hp2	missense_variant	MODERATE	c.1880G>A c.1880G>A	p.Arg627Gln p.Arg627Gln	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	2543/3605	1880/2787	627/928	chr16	29484596
chr16:29484614	C C	CCCCCGCA others(6): Show CCCCCGCAGACGCT	1	a0003 a0003	3	HG01346.hp1 NA18972.hp2 NA18994.hp2 HG01346.hp1 NA18972.hp2 NA18994.hp2	frameshift_variant	HIGH	c.1849_1861dupAGCGTC others(7): Show c.1849_1861dupAGCGTCTGCGGGG	p.Gly621fs p.Gly621fs	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	2524/3605	1861/2787	621/928	chr16	29484614
chr16:29484628	CGGCAGGT others(478): Show CGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGA AGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCCGCTGA GGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATATTATCAT CTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAA GGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCGCAGACG CTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTG GAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCGGCT GATGGTGGAAGCGGAATCCGCAGACGCTCAGCAGGTATCTTGATATTATC ATCTGCTGAGAGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCGG AAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAA	C C	1	a0006 a0006	1	HG00140.hp2 HG00140.hp2	frameshift_variant	HIGH	c.1363_1847del c.1363_1847del	p.Phe455fs p.Phe455fs	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	2510/3605	1363/2787	455/928	chr16	29484628
chr16:29484848	C C	G G	1	a0004 a0004	2	HG01981.hp1 HG02004.hp2 HG01981.hp1 HG02004.hp2	missense_variant	MODERATE	c.1628G>C c.1628G>C	p.Arg543Pro p.Arg543Pro	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	2291/3605	1628/2787	543/928	chr16	29484848
chr16:29484854	G G	T T	1	a0004 a0004	2	HG01981.hp1 HG02004.hp2 HG01981.hp1 HG02004.hp2	missense_variant	MODERATE	c.1622C>A c.1622C>A	p.Pro541His p.Pro541His	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	2285/3605	1622/2787	541/928	chr16	29484854
chr16:29484866	C C	A A	1	a0004 a0004	2	HG01981.hp1 HG02004.hp2 HG01981.hp1 HG02004.hp2	missense_variant	MODERATE	c.1610G>T c.1610G>T	p.Gly537Val p.Gly537Val	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	2273/3605	1610/2787	537/928	chr16	29484866
chr16:29484867	C C	A A	1	a0004 a0004	2	HG01981.hp1 HG02004.hp2 HG01981.hp1 HG02004.hp2	missense_variant	MODERATE	c.1609G>T c.1609G>T	p.Gly537Cys p.Gly537Cys	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	2272/3605	1609/2787	537/928	chr16	29484867
chr16:29484880	CGGCAGGT others(226): Show CGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGA AGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCGGCTGA TGGTGGAAGCGGAATCCGCAGACGCTCAGCAGGTATCTTGATATTATCAT CTGCTGAGAGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAA GGTGTCTTGAGATTATCATCCGCTGAGGGTGGAA	C C	1	a0007 a0007	1	NA18982.hp2 NA18982.hp2	frameshift_variant	HIGH	c.1363_1595del c.1363_1595del	p.Phe455fs p.Phe455fs	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	2258/3605	1363/2787	455/928	chr16	29484880
chr16:29484881	G G	A A	1	a0004 a0004	2	HG01981.hp1 HG02004.hp2 HG01981.hp1 HG02004.hp2	missense_variant	MODERATE	c.1595C>T c.1595C>T	p.Pro532Leu p.Pro532Leu	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	2258/3605	1595/2787	532/928	chr16	29484881
chr16:29484888	G G	A A	1	a0004 a0004	2	HG01981.hp1 HG02004.hp2 HG01981.hp1 HG02004.hp2	missense_variant	MODERATE	c.1588C>T c.1588C>T	p.His530Tyr p.His530Tyr	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	2251/3605	1588/2787	530/928	chr16	29484888
chr16:29484912	G G	A A	1	a0004 a0004	2	HG01981.hp1 HG02004.hp2 HG01981.hp1 HG02004.hp2	missense_variant	MODERATE	c.1564C>T c.1564C>T	p.Pro522Ser p.Pro522Ser	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	2227/3605	1564/2787	522/928	chr16	29484912
chr16:29484974	G G	C C	1	a0004 a0004	2	HG01981.hp1 HG02004.hp2 HG01981.hp1 HG02004.hp2	missense_variant	MODERATE	c.1502C>G c.1502C>G	p.Pro501Arg p.Pro501Arg	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	2165/3605	1502/2787	501/928	chr16	29484974
chr16:29484980	T T	G G	1	a0004 a0004	2	HG01981.hp1 HG02004.hp2 HG01981.hp1 HG02004.hp2	missense_variant	MODERATE	c.1496A>C c.1496A>C	p.His499Pro p.His499Pro	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	2159/3605	1496/2787	499/928	chr16	29484980
chr16:29484988	GCGGAATC others(12): Show GCGGAATCCGCAGACGCTCA	G G	1	a0004 a0004	2	HG01981.hp1 HG02004.hp2 HG01981.hp1 HG02004.hp2	frameshift_variant	HIGH	c.1469_1487delTGAGCG others(13): Show c.1469_1487delTGAGCGTCTGCGGATTCCG	p.Leu490fs p.Leu490fs	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	2150/3605	1469/2787	490/928	chr16	29484988
chr16:29485014	A A	G G	1	a0004 a0004	2	HG01981.hp1 HG02004.hp2 HG01981.hp1 HG02004.hp2	missense_variant	MODERATE	c.1462T>C c.1462T>C	p.Tyr488His p.Tyr488His	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	2125/3605	1462/2787	488/928	chr16	29485014
chr16:29485038	A A	G G	1	a0004 a0004	2	HG01981.hp1 HG02004.hp2 HG01981.hp1 HG02004.hp2	missense_variant	MODERATE	c.1438T>C c.1438T>C	p.Ser480Pro p.Ser480Pro	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	2101/3605	1438/2787	480/928	chr16	29485038
chr16:29485113	A A	AGCGGCCC others(12): Show AGCGGCCCCCGCAGACGCTC	1	a0004 a0004	2	HG01981.hp1 HG02004.hp2 HG01981.hp1 HG02004.hp2	frameshift_variant	HIGH	c.1362_1363insGAGCGT others(13): Show c.1362_1363insGAGCGTCTGCGGGGGCCGC	p.Phe455fs p.Phe455fs	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	2025/3605	1362/2787	454/928	chr16	29485113
chr16:29485113	A A	AGGCAGGT others(245): Show AGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGA AGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCCGCTGA GGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATATTATCAT CTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAA GGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCGCAGACG CTC	1	a0002 a0002	4	HG00140.hp1 HG00741.hp1 HG00741.hp2 others(1): Show HG00140.hp1 HG00741.hp1 HG00741.hp2 HG01346.hp2	conservative_inframe_insertion	MODERATE	c.1362_1363insGAGCGT others(246): Show c.1362_1363insGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGAT GATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTC AGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGC GGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAG CGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAA TATCAAGACACCTGCC	p.Ala454_Phe455insGl others(250): Show p.Ala454_Phe455insGluArgLeuArgGlyProLeuProProSerAl aAspAspAsnLeuLysThrProSerGluArgGlnLeuThrProLeuProP roSerAlaProProSerAlaAspAspAsnIleLysThrProAlaGluArg LeuArgGlyProLeuProProSerAlaAspAspAsnLeuLysThrProSe rGluArgGlnLeuThrProLeuProProSerAlaProProSerAlaAspA spAsnIleLysThrProAla	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	2025/3605	1362/2787	454/928	chr16	29485113
chr16:29485334	G G	GCTGAGGG others(245): Show GCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATATT ATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCT CGGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCGC AGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGA GGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCAT CCA	1	a0010 a0010	1	HG01981.hp2 HG01981.hp2	conservative_inframe_insertion	MODERATE	c.1141_1142insTGGATG others(246): Show c.1141_1142insTGGATGATAATCTCAAGACACCTTCCGAGCGTCAGC TCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAG ACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAA TCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTC CACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGG CCGCTTCCACCCTCAG	p.Ser380_Ala381insVa others(250): Show p.Ser380_Ala381insValAspAspAsnLeuLysThrProSerGluAr gGlnLeuThrProLeuProProSerAlaProProSerAlaAspAspAsnI leLysThrProAlaGluArgLeuArgGlyProLeuProProSerAlaAsp AspAsnLeuLysThrProSerGluArgGlnLeuThrProLeuProProSe rAlaProProSerAlaAspAspAsnIleLysThrProAlaGluArgLeuA rgGlyProLeuProProSer	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	1804/3605	1141/2787	381/928	chr16	29485334
chr16:29485712	G G	C C	1	a0005 a0005	1	NA18982.hp1 NA18982.hp1	missense_variant	MODERATE	c.764C>G c.764C>G	p.Ser255Cys p.Ser255Cys	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	1427/3605	764/2787	255/928	chr16	29485712

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
chr16:29483971	G G	C C	1	a0009c0011 a0009c0011	1	NA18972.hp1 NA18972.hp1	synonymous_variant	LOW	c.2505C>G c.2505C>G	p.Pro835Pro p.Pro835Pro	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	3168/3605	2505/2787	835/928	chr16	29483971
chr16:29484181	A A	G G	2	a0004c0004 a0010c0012 a0004c0004 a0010c0012	3	HG01981.hp1 HG01981.hp2 HG02004.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2	synonymous_variant	LOW	c.2295T>C c.2295T>C	p.Ser765Ser p.Ser765Ser	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	2958/3605	2295/2787	765/928	chr16	29484181
chr16:29484868	C C	T T	1	a0004c0004 a0004c0004	2	HG01981.hp1 HG02004.hp2 HG01981.hp1 HG02004.hp2	synonymous_variant	LOW	c.1608G>A c.1608G>A	p.Gly536Gly p.Gly536Gly	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	2271/3605	1608/2787	536/928	chr16	29484868
chr16:29485366	G G	A A	1	a0007c0013 a0007c0013	1	NA18982.hp2 NA18982.hp2	synonymous_variant	LOW	c.1110C>T c.1110C>T	p.Ala370Ala p.Ala370Ala	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	1773/3605	1110/2787	370/928	chr16	29485366
chr16:29485447	G G	C C	1	a0001c0002 a0001c0002	3	HG01978.hp1 HG01978.hp2 HG02004.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1	synonymous_variant	LOW	c.1029C>G c.1029C>G	p.Pro343Pro p.Pro343Pro	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	1692/3605	1029/2787	343/928	chr16	29485447
chr16:29505512	A A	G G	2	a0001c0006 a0004c0004 a0001c0006 a0004c0004	3	HG01981.hp1 HG02004.hp2 NA18944.hp2 HG01981.hp1 HG02004.hp2 NA18944.hp2	synonymous_variant	LOW	c.81T>C c.81T>C	p.His27His p.His27His	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	2/8	744/3605	81/2787	27/928	chr16	29505512
chr16:29505515	C C	T T	2	a0001c0005 a0003c0003 a0001c0005 a0003c0003	3	HG01346.hp1 NA18972.hp2 NA18994.hp1 HG01346.hp1 NA18972.hp2 NA18994.hp1	synonymous_variant	LOW	c.78G>A c.78G>A	p.Gln26Gln p.Gln26Gln	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	2/8	741/3605	78/2787	26/928	chr16	29505515

chr:pos	ref	alt	# # of thapid:transcript level	thapids	# # of haplotypeids	haplotypeids	annotation	impact	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	chr	pos
chr16:29483569	A A	G G	1	a0007c0013t0003 a0007c0013t0003	1	NA18982.hp2 NA18982.hp2	3_prime_UTR_variant	MODIFIER	c.120T>C c.120T>C	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	120	chr16	29483569
chr16:29483658	A A	C C	1	a0007c0013t0003 a0007c0013t0003	1	NA18982.hp2 NA18982.hp2	3_prime_UTR_variant	MODIFIER	c.31T>G c.31T>G	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	31	chr16	29483658
chr16:29506388	C C	CAT CAT	10	a0001c0002t0001 a0001c0005t0001 a0001c0006t0001 others(7): Show a0001c0002t0001 a0001c0005t0001 a0001c0006t0001 a0001c0009t0001 a0003c0003t0001 a0003c0008t0001 a0005c0014t0001 a0006c0007t0001 a0007c0013t0003 a0009c0011t0001	13	HG00140.hp2 HG01346.hp1 HG01978.hp1 others(10): Show HG00140.hp2 HG01346.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 NA18944.hp1 NA18944.hp2 NA18972.hp1 NA18972.hp2 NA18982.hp1 NA18982.hp2 NA18994.hp1 NA18994.hp2	5_prime_UTR_variant	MODIFIER	c.-644_-643insAT c.-644_-643insAT	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	1/8	797	chr16	29506388

chr:pos	ref	alt	# # of ghapid:genebody level	ghapids	# # of haplotypeids	haplotypeids	annotation	impact	hgvs_c	genename	geneid	featuretype	featureid	genebody_biotype	rank	chr	pos
chr16:29487030	A A	G G	1	a0007c0013t0003g0005 a0007c0013t0003g0005	1	NA18982.hp2 NA18982.hp2	intron_variant	MODIFIER	c.642+164T>C c.642+164T>C	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	7/7	chr16	29487030
chr16:29488960	G G	T T	12	a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0011 others(9): Show a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0005t0001g0003 a0001c0006t0001g0004 a0001c0009t0001g0006 a0003c0003t0001g0001 a0003c0003t0001g0002 a0003c0008t0001g0013 a0005c0014t0001g0012 a0006c0007t0001g0007 a0009c0011t0001g0009	12	HG00140.hp2 HG01346.hp1 HG01978.hp1 others(9): Show HG00140.hp2 HG01346.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 NA18944.hp1 NA18944.hp2 NA18972.hp1 NA18972.hp2 NA18982.hp1 NA18994.hp1 NA18994.hp2	intron_variant	MODIFIER	c.546-1561C>A c.546-1561C>A	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	5/7	chr16	29488960
chr16:29488984	G G	A A	1	a0007c0013t0003g0005 a0007c0013t0003g0005	1	NA18982.hp2 NA18982.hp2	intron_variant	MODIFIER	c.546-1585C>T c.546-1585C>T	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	5/7	chr16	29488984
chr16:29489152	G G	A A	1	a0002c0001t0002g0020 a0002c0001t0002g0020	1	HG00741.hp2 HG00741.hp2	intron_variant	MODIFIER	c.546-1753C>T c.546-1753C>T	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	5/7	chr16	29489152
chr16:29489305	C C	T T	1	a0007c0013t0003g0005 a0007c0013t0003g0005	1	NA18982.hp2 NA18982.hp2	intron_variant	MODIFIER	c.546-1906G>A c.546-1906G>A	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	5/7	chr16	29489305
chr16:29489312	T T	A A	1	a0007c0013t0003g0005 a0007c0013t0003g0005	1	NA18982.hp2 NA18982.hp2	intron_variant	MODIFIER	c.546-1913A>T c.546-1913A>T	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	5/7	chr16	29489312
chr16:29489986	G G	A A	1	a0009c0011t0001g0009 a0009c0011t0001g0009	1	NA18972.hp1 NA18972.hp1	intron_variant	MODIFIER	c.545+1481C>T c.545+1481C>T	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	5/7	chr16	29489986
chr16:29490094	T T	C C	1	a0009c0011t0001g0009 a0009c0011t0001g0009	1	NA18972.hp1 NA18972.hp1	intron_variant	MODIFIER	c.545+1373A>G c.545+1373A>G	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	5/7	chr16	29490094
chr16:29490729	C C	CA CA	11	a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0011 others(8): Show a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0006t0001g0004 a0001c0009t0001g0006 a0003c0003t0001g0001 a0003c0003t0001g0002 a0005c0014t0001g0012 a0006c0007t0001g0007 a0007c0013t0003g0005 a0009c0011t0001g0009	11	HG00140.hp2 HG01346.hp1 HG01978.hp1 others(8): Show HG00140.hp2 HG01346.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 NA18944.hp1 NA18944.hp2 NA18972.hp1 NA18972.hp2 NA18982.hp1 NA18982.hp2	intron_variant	MODIFIER	c.545+737dupT c.545+737dupT	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	5/7	chr16	29490729
chr16:29490904	T T	TA TA	10	a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0005t0001g0003 others(7): Show a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0005t0001g0003 a0001c0006t0001g0004 a0001c0009t0001g0006 a0002c0001t0002g0020 a0003c0003t0001g0001 a0003c0008t0001g0013 a0006c0007t0001g0007 a0009c0011t0001g0009	10	HG00140.hp2 HG00741.hp2 HG01346.hp1 others(7): Show HG00140.hp2 HG00741.hp2 HG01346.hp1 HG01978.hp1 HG02004.hp1 NA18944.hp1 NA18944.hp2 NA18972.hp1 NA18994.hp1 NA18994.hp2	intron_variant	MODIFIER	c.545+562dupT c.545+562dupT	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	5/7	chr16	29490904
chr16:29490904	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	2	a0004c0004t0002g0015 a0010c0012t0002g0017 a0004c0004t0002g0015 a0010c0012t0002g0017	2	HG01981.hp1 HG01981.hp2 HG01981.hp1 HG01981.hp2	intron_variant	MODIFIER	c.545+552_545+562del others(11): Show c.545+552_545+562delTTTTTTTTTTT	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	5/7	chr16	29490904
chr16:29491098	C C	G G	1	a0002c0001t0002g0019 a0002c0001t0002g0019	1	HG00741.hp1 HG00741.hp1	intron_variant	MODIFIER	c.545+369G>C c.545+369G>C	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	5/7	chr16	29491098
chr16:29491205	G G	GA GA	3	a0002c0001t0002g0019 a0004c0004t0002g0015 a0010c0012t0002g0017 a0002c0001t0002g0019 a0004c0004t0002g0015 a0010c0012t0002g0017	3	HG00741.hp1 HG01981.hp1 HG01981.hp2 HG00741.hp1 HG01981.hp1 HG01981.hp2	intron_variant	MODIFIER	c.545+261dupT c.545+261dupT	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	5/7	chr16	29491205
chr16:29492122	C C	G G	1	a0007c0013t0003g0005 a0007c0013t0003g0005	1	NA18982.hp2 NA18982.hp2	intron_variant	MODIFIER	c.250-248G>C c.250-248G>C	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	3/7	chr16	29492122
chr16:29492317	C C	T T	1	a0006c0007t0001g0007 a0006c0007t0001g0007	1	HG00140.hp2 HG00140.hp2	intron_variant	MODIFIER	c.250-443G>A c.250-443G>A	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	3/7	chr16	29492317
chr16:29492427	C C	G G	1	a0002c0001t0002g0019 a0002c0001t0002g0019	1	HG00741.hp1 HG00741.hp1	intron_variant	MODIFIER	c.250-553G>C c.250-553G>C	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	3/7	chr16	29492427
chr16:29492512	A A	T T	20	a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0011 others(17): Show a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0005t0001g0003 a0001c0006t0001g0004 a0001c0009t0001g0006 a0002c0001t0002g0016 a0002c0001t0002g0018 a0002c0001t0002g0019 a0002c0001t0002g0020 a0003c0003t0001g0001 a0003c0003t0001g0002 a0003c0008t0001g0013 a0004c0004t0002g0014 a0004c0004t0002g0015 a0005c0014t0001g0012 a0006c0007t0001g0007 a0007c0013t0003g0005 a0009c0011t0001g0009 a0010c0012t0002g0017	20	HG00140.hp1 HG00140.hp2 HG00741.hp1 others(17): Show HG00140.hp1 HG00140.hp2 HG00741.hp1 HG00741.hp2 HG01346.hp1 HG01346.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 NA18944.hp1 NA18944.hp2 NA18972.hp1 NA18972.hp2 NA18982.hp1 NA18982.hp2 NA18994.hp1 NA18994.hp2	intron_variant	MODIFIER	c.250-638T>A c.250-638T>A	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	3/7	chr16	29492512
chr16:29493311	G G	A A	1	a0002c0001t0002g0018 a0002c0001t0002g0018	1	HG01346.hp2 HG01346.hp2	intron_variant	MODIFIER	c.250-1437C>T c.250-1437C>T	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	3/7	chr16	29493311
chr16:29493352	C C	T T	1	a0002c0001t0002g0016 a0002c0001t0002g0016	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.250-1478G>A c.250-1478G>A	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	3/7	chr16	29493352
chr16:29493647	C C	T T	1	a0003c0003t0001g0002 a0003c0003t0001g0002	1	NA18972.hp2 NA18972.hp2	intron_variant	MODIFIER	c.250-1773G>A c.250-1773G>A	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	3/7	chr16	29493647
chr16:29494012	C C	T T	20	a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0011 others(17): Show a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0005t0001g0003 a0001c0006t0001g0004 a0001c0009t0001g0006 a0002c0001t0002g0016 a0002c0001t0002g0018 a0002c0001t0002g0019 a0002c0001t0002g0020 a0003c0003t0001g0001 a0003c0003t0001g0002 a0003c0008t0001g0013 a0004c0004t0002g0014 a0004c0004t0002g0015 a0005c0014t0001g0012 a0006c0007t0001g0007 a0007c0013t0003g0005 a0009c0011t0001g0009 a0010c0012t0002g0017	20	HG00140.hp1 HG00140.hp2 HG00741.hp1 others(17): Show HG00140.hp1 HG00140.hp2 HG00741.hp1 HG00741.hp2 HG01346.hp1 HG01346.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 NA18944.hp1 NA18944.hp2 NA18972.hp1 NA18972.hp2 NA18982.hp1 NA18982.hp2 NA18994.hp1 NA18994.hp2	intron_variant	MODIFIER	c.249+1467G>A c.249+1467G>A	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	3/7	chr16	29494012
chr16:29494156	A A	G G	1	a0001c0002t0001g0010 a0001c0002t0001g0010	1	HG01978.hp1 HG01978.hp1	intron_variant	MODIFIER	c.249+1323T>C c.249+1323T>C	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	3/7	chr16	29494156
chr16:29494313	A A	G G	1	a0002c0001t0002g0016 a0002c0001t0002g0016	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.249+1166T>C c.249+1166T>C	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	3/7	chr16	29494313
chr16:29494798	C C	T T	1	a0002c0001t0002g0020 a0002c0001t0002g0020	1	HG00741.hp2 HG00741.hp2	intron_variant	MODIFIER	c.249+681G>A c.249+681G>A	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	3/7	chr16	29494798
chr16:29495290	A A	C C	1	a0007c0013t0003g0005 a0007c0013t0003g0005	1	NA18982.hp2 NA18982.hp2	intron_variant	MODIFIER	c.249+189T>G c.249+189T>G	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	3/7	chr16	29495290
chr16:29496446	G G	T T	1	a0007c0013t0003g0005 a0007c0013t0003g0005	1	NA18982.hp2 NA18982.hp2	intron_variant	MODIFIER	c.121-839C>A c.121-839C>A	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	2/7	chr16	29496446
chr16:29496841	C C	T T	1	a0002c0001t0002g0020 a0002c0001t0002g0020	1	HG00741.hp2 HG00741.hp2	intron_variant	MODIFIER	c.121-1234G>A c.121-1234G>A	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	2/7	chr16	29496841
chr16:29496857	C C	T T	1	a0007c0013t0003g0005 a0007c0013t0003g0005	1	NA18982.hp2 NA18982.hp2	intron_variant	MODIFIER	c.121-1250G>A c.121-1250G>A	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	2/7	chr16	29496857
chr16:29497513	C C	CA CA	3	a0001c0002t0001g0010 a0002c0001t0002g0019 a0007c0013t0003g0005 a0001c0002t0001g0010 a0002c0001t0002g0019 a0007c0013t0003g0005	3	HG00741.hp1 HG01978.hp1 NA18982.hp2 HG00741.hp1 HG01978.hp1 NA18982.hp2	intron_variant	MODIFIER	c.121-1907dupT c.121-1907dupT	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	2/7	chr16	29497513
chr16:29497661	C C	G G	13	a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0011 others(10): Show a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0005t0001g0003 a0001c0006t0001g0004 a0001c0009t0001g0006 a0003c0003t0001g0001 a0003c0003t0001g0002 a0003c0008t0001g0013 a0005c0014t0001g0012 a0006c0007t0001g0007 a0007c0013t0003g0005 a0009c0011t0001g0009	13	HG00140.hp2 HG01346.hp1 HG01978.hp1 others(10): Show HG00140.hp2 HG01346.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 NA18944.hp1 NA18944.hp2 NA18972.hp1 NA18972.hp2 NA18982.hp1 NA18982.hp2 NA18994.hp1 NA18994.hp2	intron_variant	MODIFIER	c.121-2054G>C c.121-2054G>C	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	2/7	chr16	29497661
chr16:29498191	T T	C C	1	a0001c0002t0001g0011 a0001c0002t0001g0011	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.121-2584A>G c.121-2584A>G	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	2/7	chr16	29498191
chr16:29498219	G G	A A	1	a0002c0001t0002g0020 a0002c0001t0002g0020	1	HG00741.hp2 HG00741.hp2	intron_variant	MODIFIER	c.121-2612C>T c.121-2612C>T	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	2/7	chr16	29498219
chr16:29498299	AAAAT AAAAT	A A	2	a0001c0002t0001g0011 a0007c0013t0003g0005 a0001c0002t0001g0011 a0007c0013t0003g0005	2	HG01978.hp2 NA18982.hp2 HG01978.hp2 NA18982.hp2	intron_variant	MODIFIER	c.121-2696_121-2693d others(6): Show c.121-2696_121-2693delATTT	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	2/7	chr16	29498299
chr16:29498600	G G	C C	1	a0001c0002t0001g0010 a0001c0002t0001g0010	1	HG01978.hp1 HG01978.hp1	intron_variant	MODIFIER	c.121-2993C>G c.121-2993C>G	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	2/7	chr16	29498600
chr16:29498704	C C	CA CA	4	a0002c0001t0002g0018 a0002c0001t0002g0019 a0002c0001t0002g0020 others(1): Show a0002c0001t0002g0018 a0002c0001t0002g0019 a0002c0001t0002g0020 a0010c0012t0002g0017	4	HG00741.hp1 HG00741.hp2 HG01346.hp2 others(1): Show HG00741.hp1 HG00741.hp2 HG01346.hp2 HG01981.hp2	intron_variant	MODIFIER	c.121-3098dupT c.121-3098dupT	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	2/7	chr16	29498704
chr16:29499224	T T	C C	2	a0001c0002t0001g0011 a0007c0013t0003g0005 a0001c0002t0001g0011 a0007c0013t0003g0005	2	HG01978.hp2 NA18982.hp2 HG01978.hp2 NA18982.hp2	intron_variant	MODIFIER	c.121-3617A>G c.121-3617A>G	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	2/7	chr16	29499224
chr16:29499531	G G	A A	1	a0005c0014t0001g0012 a0005c0014t0001g0012	1	NA18982.hp1 NA18982.hp1	intron_variant	MODIFIER	c.121-3924C>T c.121-3924C>T	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	2/7	chr16	29499531
chr16:29499615	A A	G G	1	a0007c0013t0003g0005 a0007c0013t0003g0005	1	NA18982.hp2 NA18982.hp2	intron_variant	MODIFIER	c.121-4008T>C c.121-4008T>C	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	2/7	chr16	29499615
chr16:29500992	C C	G G	1	a0003c0008t0001g0013 a0003c0008t0001g0013	1	NA18994.hp2 NA18994.hp2	intron_variant	MODIFIER	c.120+4481G>C c.120+4481G>C	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	2/7	chr16	29500992
chr16:29501015	A A	G G	1	a0003c0008t0001g0013 a0003c0008t0001g0013	1	NA18994.hp2 NA18994.hp2	intron_variant	MODIFIER	c.120+4458T>C c.120+4458T>C	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	2/7	chr16	29501015
chr16:29501027	T T	A A	1	a0003c0008t0001g0013 a0003c0008t0001g0013	1	NA18994.hp2 NA18994.hp2	intron_variant	MODIFIER	c.120+4446A>T c.120+4446A>T	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	2/7	chr16	29501027
chr16:29501425	C C	T T	1	a0004c0004t0002g0014 a0004c0004t0002g0014	1	HG02004.hp2 HG02004.hp2	intron_variant	MODIFIER	c.120+4048G>A c.120+4048G>A	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	2/7	chr16	29501425
chr16:29501860	CA CA	C C	11	a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0011 others(8): Show a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0005t0001g0003 a0001c0006t0001g0004 a0001c0009t0001g0006 a0003c0003t0001g0002 a0005c0014t0001g0012 a0006c0007t0001g0007 a0007c0013t0003g0005 a0009c0011t0001g0009	11	HG00140.hp2 HG01978.hp1 HG01978.hp2 others(8): Show HG00140.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 NA18944.hp1 NA18944.hp2 NA18972.hp1 NA18972.hp2 NA18982.hp1 NA18982.hp2 NA18994.hp1	intron_variant	MODIFIER	c.120+3612delT c.120+3612delT	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	2/7	chr16	29501860
chr16:29501964	A A	C C	1	a0007c0013t0003g0005 a0007c0013t0003g0005	1	NA18982.hp2 NA18982.hp2	intron_variant	MODIFIER	c.120+3509T>G c.120+3509T>G	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	2/7	chr16	29501964
chr16:29502157	T T	C C	1	a0007c0013t0003g0005 a0007c0013t0003g0005	1	NA18982.hp2 NA18982.hp2	intron_variant	MODIFIER	c.120+3316A>G c.120+3316A>G	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	2/7	chr16	29502157
chr16:29502178	A A	C C	1	a0007c0013t0003g0005 a0007c0013t0003g0005	1	NA18982.hp2 NA18982.hp2	intron_variant	MODIFIER	c.120+3295T>G c.120+3295T>G	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	2/7	chr16	29502178
chr16:29502184	A A	G G	1	a0007c0013t0003g0005 a0007c0013t0003g0005	1	NA18982.hp2 NA18982.hp2	intron_variant	MODIFIER	c.120+3289T>C c.120+3289T>C	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	2/7	chr16	29502184
chr16:29502904	G G	A A	1	a0007c0013t0003g0005 a0007c0013t0003g0005	1	NA18982.hp2 NA18982.hp2	intron_variant	MODIFIER	c.120+2569C>T c.120+2569C>T	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	2/7	chr16	29502904
chr16:29504066	T T	C C	13	a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0011 others(10): Show a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0005t0001g0003 a0001c0006t0001g0004 a0001c0009t0001g0006 a0003c0003t0001g0001 a0003c0003t0001g0002 a0003c0008t0001g0013 a0005c0014t0001g0012 a0006c0007t0001g0007 a0007c0013t0003g0005 a0009c0011t0001g0009	13	HG00140.hp2 HG01346.hp1 HG01978.hp1 others(10): Show HG00140.hp2 HG01346.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 NA18944.hp1 NA18944.hp2 NA18972.hp1 NA18972.hp2 NA18982.hp1 NA18982.hp2 NA18994.hp1 NA18994.hp2	intron_variant	MODIFIER	c.120+1407A>G c.120+1407A>G	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	2/7	chr16	29504066
chr16:29504514	ATG ATG	A A	3	a0002c0001t0002g0016 a0003c0003t0001g0001 a0007c0013t0003g0005 a0002c0001t0002g0016 a0003c0003t0001g0001 a0007c0013t0003g0005	3	HG00140.hp1 HG01346.hp1 NA18982.hp2 HG00140.hp1 HG01346.hp1 NA18982.hp2	intron_variant	MODIFIER	c.120+957_120+958del others(2): Show c.120+957_120+958delCA	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	2/7	chr16	29504514
chr16:29504514	ATGTG ATGTG	A A	16	a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0011 others(13): Show a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0005t0001g0003 a0001c0006t0001g0004 a0002c0001t0002g0018 a0002c0001t0002g0019 a0002c0001t0002g0020 a0003c0003t0001g0002 a0003c0008t0001g0013 a0004c0004t0002g0014 a0004c0004t0002g0015 a0005c0014t0001g0012 a0006c0007t0001g0007 a0009c0011t0001g0009 a0010c0012t0002g0017	16	HG00140.hp2 HG00741.hp1 HG00741.hp2 others(13): Show HG00140.hp2 HG00741.hp1 HG00741.hp2 HG01346.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 NA18944.hp2 NA18972.hp1 NA18972.hp2 NA18982.hp1 NA18994.hp1 NA18994.hp2	intron_variant	MODIFIER	c.120+955_120+958del others(4): Show c.120+955_120+958delCACA	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	2/7	chr16	29504514
chr16:29505190	A A	C C	20	a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0011 others(17): Show a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0005t0001g0003 a0001c0006t0001g0004 a0001c0009t0001g0006 a0002c0001t0002g0016 a0002c0001t0002g0018 a0002c0001t0002g0019 a0002c0001t0002g0020 a0003c0003t0001g0001 a0003c0003t0001g0002 a0003c0008t0001g0013 a0004c0004t0002g0014 a0004c0004t0002g0015 a0005c0014t0001g0012 a0006c0007t0001g0007 a0007c0013t0003g0005 a0009c0011t0001g0009 a0010c0012t0002g0017	20	HG00140.hp1 HG00140.hp2 HG00741.hp1 others(17): Show HG00140.hp1 HG00140.hp2 HG00741.hp1 HG00741.hp2 HG01346.hp1 HG01346.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 NA18944.hp1 NA18944.hp2 NA18972.hp1 NA18972.hp2 NA18982.hp1 NA18982.hp2 NA18994.hp1 NA18994.hp2	intron_variant	MODIFIER	c.120+283T>G c.120+283T>G	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	2/7	chr16	29505190
chr16:29505203	G G	T T	1	a0007c0013t0003g0005 a0007c0013t0003g0005	1	NA18982.hp2 NA18982.hp2	intron_variant	MODIFIER	c.120+270C>A c.120+270C>A	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	2/7	chr16	29505203

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JoGo Online Haplotype Explorer NPIPB12_chr16_29478534_29511408

JoGo Local Haplotype Explorer (on iGV) NPIPB12_chr16_29478534_29511408

Translation Multiple Alignment View

🧬 Gene Summary (with MANE)

AAmino acid(protein) Level Haplotype Info (Total: 10)

CCoding Level Haplotype Info (Total: 14)

TTranscript Level Haplotype Info (Total: 3)

GGenebody Level Haplotype Info (Total: 21)

A C AC Level (Amino Acid + Coding) Haplotype Info (Total: 14)

A C T ACT Level (Amino Acid + Coding + Transcript) Haplotype Info (Total: 14)

A C T G ACTG Level (Amino Acid + Coding + Transcript + Genebody) Haplotype Info (Total: 21)

Haplotype Details by Sample (Haploid Level) (Total: 21)

AAmino acid(protein) Level Haplotype Related Variants (Effect to Protein Coding Variants) (Total: 26)

CCoding Level Variants (On coding region but no effect to protein coding variants: Synonymous Mutations) (Total: 7)

TTranscript Level Haplotype Variants (Exon) (Total: 3)

GGenebody Level Haplotype Variants (Intron) (Total: 53)

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Annotation (Repeats)

Annotation (SNP Array)