Joint Open Genome and Omics Platform (JoGo)

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geneid	729540
ensemblid	ENSG00000183054.13
hgncid	32419
symbol	RGPD6
name	RANBP2 like and GRIP domain containing 6
refseq_nuc	NM_001123363.4
refseq_prot	NP_001116835.1
ensembl_nuc	ENST00000329516.8
ensembl_prot	ENSP00000330842.3
mane_status	MANE Select
chr	chr2
start	110513802
end	110577222
strand	-
ver	v1.2
region	chr2:110513802-110577222
region5000	chr2:110508802-110582222
regionname0	RGPD6_chr2_110513802_110577222
regionname5000	RGPD6_chr2_110508802_110582222

ahapid	grch38/ chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	alen	total	AFR	AMR	EAS	EUR	SAS	JPT	regionname	genename	aa	chr	start	end
a0001	0/0	1765	1	0	1	0	0	0	0	RGPD6_chr2_110508802_110582222	RGPD6	copy fasta	chr2	110508802	110582222
a0002	0/0	1765	1	0	1	0	0	0	0	RGPD6_chr2_110508802_110582222	RGPD6	copy fasta	chr2	110508802	110582222

chapid	grch38/ chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	clen	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	cseq	chr	start	end
c0001	0/0	5298	1	0	1	0	0	0	RGPD6_chr2_110508802_110582222	RGPD6	copy fasta	chr2	110508802	110582222
c0002	0/0	5298	1	0	1	0	0	0	RGPD6_chr2_110508802_110582222	RGPD6	copy fasta	chr2	110508802	110582222

thapid	grch38 chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	tlen	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	tseq	chr	start	end
t0001	0/0	2008	2	0	2	0	0	0	RGPD6_chr2_110508802_110582222	RGPD6	copy fasta	chr2	110508802	110582222

ghapid	grch38/ chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	chr	start	end
g0001	0/0	1	0	1	0	0	0	RGPD6_chr2_110508802_110582222	RGPD6	chr2	110508802	110582222
g0002	0/0	1	0	1	0	0	0	RGPD6_chr2_110508802_110582222	RGPD6	chr2	110508802	110582222

achapid	grch38/ chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	clen	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	cseq	chr	start	end
a0001c0002	0/0	5298	1	0	1	0	0	0	RGPD6_chr2_110508802_110582222	RGPD6	copy fasta	chr2	110508802	110582222
a0002c0001	0/0	5298	1	0	1	0	0	0	RGPD6_chr2_110508802_110582222	RGPD6	copy fasta	chr2	110508802	110582222

acthapid	grch38 chm13v2	tlen	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	tseq	chr	start	end
a0001c0002t0001	0/0	7305	1	0	1	0	0	0	RGPD6_chr2_110508802_110582222	RGPD6	copy fasta	chr2	110508802	110582222
a0002c0001t0001	0/0	7305	1	0	1	0	0	0	RGPD6_chr2_110508802_110582222	RGPD6	copy fasta	chr2	110508802	110582222

actghapid	grch38/ chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	chr	start	end
a0001c0002t0001g0001	0/0	1	0	1	0	0	0	RGPD6_chr2_110508802_110582222	RGPD6	chr2	110508802	110582222
a0002c0001t0001g0002	0/0	1	0	1	0	0	0	RGPD6_chr2_110508802_110582222	RGPD6	chr2	110508802	110582222

sampleid	ID haplotypeid	ahapid	chapid	thapid	ghapid	gpopname	popname	regionname	genename	chr	start	end
HG01978	hp1	a0002	c0001	t0001	g0002	AMR	PEL	RGPD6_chr2_110508802_110582222	RGPD6	chr2	110508802	110582222
HG01978	hp2	a0001	c0002	t0001	g0001	AMR	PEL	RGPD6_chr2_110508802_110582222	RGPD6	chr2	110508802	110582222

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
chr2:110523690	T T	C C	2	a0001 a0002 a0001 a0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	missense_variant	MODERATE	c.5069A>G c.5069A>G	p.Lys1690Arg p.Lys1690Arg	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	22/23	5267/7305	5069/5298	1690/1765	chr2	110523690
chr2:110535351	T T	A A	1	a0001 a0001	1	HG01978.hp2 HG01978.hp2	missense_variant	MODERATE	c.3035A>T c.3035A>T	p.Asn1012Ile p.Asn1012Ile	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	20/23	3233/7305	3035/5298	1012/1765	chr2	110535351
chr2:110535473	A A	C C	1	a0001 a0001	1	HG01978.hp2 HG01978.hp2	missense_variant	MODERATE	c.2913T>G c.2913T>G	p.Phe971Leu p.Phe971Leu	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	20/23	3111/7305	2913/5298	971/1765	chr2	110535473
chr2:110535548	G G	T T	1	a0001 a0001	1	HG01978.hp2 HG01978.hp2	missense_variant	MODERATE	c.2838C>A c.2838C>A	p.Phe946Leu p.Phe946Leu	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	20/23	3036/7305	2838/5298	946/1765	chr2	110535548
chr2:110545156	C C	T T	1	a0001 a0001	1	HG01978.hp2 HG01978.hp2	missense_variant	MODERATE	c.1968G>A c.1968G>A	p.Met656Ile p.Met656Ile	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	14/23	2166/7305	1968/5298	656/1765	chr2	110545156
chr2:110547171	C C	T T	1	a0001 a0001	1	HG01978.hp2 HG01978.hp2	missense_variant	MODERATE	c.1391G>A c.1391G>A	p.Arg464His p.Arg464His	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	10/23	1589/7305	1391/5298	464/1765	chr2	110547171

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
chr2:110523590	C C	T T	2	a0001c0002 a0002c0001 a0001c0002 a0002c0001	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	synonymous_variant	LOW	c.5169G>A c.5169G>A	p.Lys1723Lys p.Lys1723Lys	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	22/23	5367/7305	5169/5298	1723/1765			chr2	110523590
chr2:110557876	T T	C C	1	a0001c0002 a0001c0002	1	HG01978.hp2 HG01978.hp2	synonymous_variant	LOW	c.954A>G c.954A>G	p.Ala318Ala p.Ala318Ala	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	7/23	1152/7305	954/5298	318/1765			chr2	110557876

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
chr2:110513826	A A	T T	2	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	3_prime_UTR_variant	MODIFIER	c.1785T>A c.1785T>A	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	23/23	1785	chr2	110513826
chr2:110514191	A A	G G	2	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	3_prime_UTR_variant	MODIFIER	c.1420T>C c.1420T>C	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	23/23	1420	chr2	110514191
chr2:110514986	A A	G G	2	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	3_prime_UTR_variant	MODIFIER	c.625T>C c.625T>C	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	23/23	625	chr2	110514986
chr2:110515127	G G	A A	2	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	3_prime_UTR_variant	MODIFIER	c.484C>T c.484C>T	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	23/23	484	chr2	110515127
chr2:110515139	T T	G G	2	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	3_prime_UTR_variant	MODIFIER	c.472A>C c.472A>C	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	23/23	472	chr2	110515139
chr2:110515149	A A	C C	2	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	3_prime_UTR_variant	MODIFIER	c.462T>G c.462T>G	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	23/23	462	chr2	110515149
chr2:110515547	G G	A A	2	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	3_prime_UTR_variant	MODIFIER	c.64C>T c.64C>T	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	23/23	64	chr2	110515547

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
chr2:110515793	G G	GGGGTTCT others(5): Show GGGGTTCTTTTTT	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.5264-149_5264-148i others(14): Show c.5264-149_5264-148insAAAAAAGAACCC	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	22/22	chr2	110515793
chr2:110515796	C C	T T	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.5264-151G>A c.5264-151G>A	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	22/22	chr2	110515796
chr2:110515888	C C	A A	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.5264-243G>T c.5264-243G>T	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	22/22	chr2	110515888
chr2:110516117	C C	T T	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.5264-472G>A c.5264-472G>A	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	22/22	chr2	110516117
chr2:110516470	G G	A A	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.5264-825C>T c.5264-825C>T	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	22/22	chr2	110516470
chr2:110517027	C C	T T	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.5264-1382G>A c.5264-1382G>A	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	22/22	chr2	110517027
chr2:110518748	T T	C C	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.5264-3103A>G c.5264-3103A>G	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	22/22	chr2	110518748
chr2:110518861	T T	C C	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.5264-3216A>G c.5264-3216A>G	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	22/22	chr2	110518861
chr2:110519293	C C	T T	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.5264-3648G>A c.5264-3648G>A	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	22/22	chr2	110519293
chr2:110519721	T T	C C	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.5263+3775A>G c.5263+3775A>G	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	22/22	chr2	110519721
chr2:110519752	A A	G G	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.5263+3744T>C c.5263+3744T>C	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	22/22	chr2	110519752
chr2:110520156	C C	T T	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.5263+3340G>A c.5263+3340G>A	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	22/22	chr2	110520156
chr2:110520279	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTATTTTTTT	C C	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.5263+3194_5263+321 others(27): Show c.5263+3194_5263+3216delAAAAAAATAAAAAAAAAAAAAAA	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	22/22	chr2	110520279
chr2:110520720	T T	G G	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.5263+2776A>C c.5263+2776A>C	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	22/22	chr2	110520720
chr2:110522122	G G	A A	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.5263+1374C>T c.5263+1374C>T	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	22/22	chr2	110522122
chr2:110522731	GT GT	G G	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.5263+764delA c.5263+764delA	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	22/22	chr2	110522731
chr2:110523227	C C	A A	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.5263+269G>T c.5263+269G>T	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	22/22	chr2	110523227
chr2:110523979	C C	A A	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.5062-282G>T c.5062-282G>T	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	21/22	chr2	110523979
chr2:110524554	C C	A A	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.5062-857G>T c.5062-857G>T	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	21/22	chr2	110524554
chr2:110524735	C C	T T	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.5062-1038G>A c.5062-1038G>A	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	21/22	chr2	110524735
chr2:110525032	G G	A A	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.5061+1233C>T c.5061+1233C>T	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	21/22	chr2	110525032
chr2:110525036	C C	CAA CAA	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.5061+1227_5061+122 others(6): Show c.5061+1227_5061+1228dupTT	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	21/22	chr2	110525036
chr2:110525402	C C	T T	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.5061+863G>A c.5061+863G>A	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	21/22	chr2	110525402
chr2:110525602	A A	G G	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.5061+663T>C c.5061+663T>C	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	21/22	chr2	110525602
chr2:110525760	T T	C C	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.5061+505A>G c.5061+505A>G	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	21/22	chr2	110525760
chr2:110525779	G G	C C	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.5061+486C>G c.5061+486C>G	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	21/22	chr2	110525779
chr2:110525946	G G	T T	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.5061+319C>A c.5061+319C>A	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	21/22	chr2	110525946
chr2:110526096	C C	CAAAAAAA others(1): Show CAAAAAAAA	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.5061+161_5061+168d others(10): Show c.5061+161_5061+168dupTTTTTTTT	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	21/22	chr2	110526096
chr2:110526205	G G	A A	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.5061+60C>T c.5061+60C>T	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	21/22	chr2	110526205
chr2:110526411	G G	C C	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	splice_region_variant&intron_variant	LOW	c.4922-7C>G c.4922-7C>G	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	20/22	chr2	110526411
chr2:110526510	T T	C C	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.4922-106A>G c.4922-106A>G	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	20/22	chr2	110526510
chr2:110526803	G G	A A	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.4922-399C>T c.4922-399C>T	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	20/22	chr2	110526803
chr2:110527042	A A	G G	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.4922-638T>C c.4922-638T>C	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	20/22	chr2	110527042
chr2:110527349	C C	T T	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.4922-945G>A c.4922-945G>A	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	20/22	chr2	110527349
chr2:110527370	A A	G G	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.4922-966T>C c.4922-966T>C	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	20/22	chr2	110527370
chr2:110527381	C C	CT CT	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.4922-978_4922-977i others(3): Show c.4922-978_4922-977insA	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	20/22	chr2	110527381
chr2:110527630	A A	G G	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.4922-1226T>C c.4922-1226T>C	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	20/22	chr2	110527630
chr2:110527917	G G	A A	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.4922-1513C>T c.4922-1513C>T	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	20/22	chr2	110527917
chr2:110527994	T T	C C	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.4922-1590A>G c.4922-1590A>G	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	20/22	chr2	110527994
chr2:110529177	T T	C C	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.4922-2773A>G c.4922-2773A>G	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	20/22	chr2	110529177
chr2:110529195	C C	T T	1	a0002c0001t0001g0002 a0002c0001t0001g0002	1	HG01978.hp1 HG01978.hp1	intron_variant	MODIFIER	c.4922-2791G>A c.4922-2791G>A	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	20/22	chr2	110529195
chr2:110529343	G G	A A	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.4922-2939C>T c.4922-2939C>T	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	20/22	chr2	110529343
chr2:110530124	G G	A A	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.4921+3341C>T c.4921+3341C>T	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	20/22	chr2	110530124
chr2:110530681	T T	C C	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.4921+2784A>G c.4921+2784A>G	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	20/22	chr2	110530681
chr2:110531345	C C	A A	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.4921+2120G>T c.4921+2120G>T	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	20/22	chr2	110531345
chr2:110535915	G G	T T	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.2698-227C>A c.2698-227C>A	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	19/22	chr2	110535915
chr2:110536603	G G	A A	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.2603-93C>T c.2603-93C>T	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	18/22	chr2	110536603
chr2:110538377	G G	A A	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.2602+1678C>T c.2602+1678C>T	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	18/22	chr2	110538377
chr2:110540942	C C	T T	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.2467-752G>A c.2467-752G>A	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	17/22	chr2	110540942
chr2:110541133	C C	T T	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.2467-943G>A c.2467-943G>A	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	17/22	chr2	110541133
chr2:110541219	A A	C C	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.2467-1029T>G c.2467-1029T>G	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	17/22	chr2	110541219
chr2:110541316	T T	C C	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.2467-1126A>G c.2467-1126A>G	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	17/22	chr2	110541316
chr2:110541548	G G	T T	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.2467-1358C>A c.2467-1358C>A	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	17/22	chr2	110541548
chr2:110541595	T T	G G	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.2467-1405A>C c.2467-1405A>C	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	17/22	chr2	110541595
chr2:110541608	T T	G G	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.2467-1418A>C c.2467-1418A>C	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	17/22	chr2	110541608
chr2:110541937	T T	C C	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.2466+1422A>G c.2466+1422A>G	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	17/22	chr2	110541937
chr2:110542963	T T	G G	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.2466+396A>C c.2466+396A>C	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	17/22	chr2	110542963
chr2:110547442	G G	C C	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.1277-157C>G c.1277-157C>G	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	9/22	chr2	110547442
chr2:110547719	T T	G G	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.1277-434A>C c.1277-434A>C	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	9/22	chr2	110547719
chr2:110547723	A A	C C	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.1277-438T>G c.1277-438T>G	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	9/22	chr2	110547723
chr2:110547932	C C	CAAGAAAA others(13): Show CAAGAAAAGAAAAGAAAAGAA	1	a0002c0001t0001g0002 a0002c0001t0001g0002	1	HG01978.hp1 HG01978.hp1	intron_variant	MODIFIER	c.1277-667_1277-648d others(22): Show c.1277-667_1277-648dupTTCTTTTCTTTTCTTTTCTT	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	9/22	chr2	110547932
chr2:110547932	C C	CAAGAAAA others(23): Show CAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.1277-648_1277-647i others(32): Show c.1277-648_1277-647insTTCTTTTCTTTTCTTTTCTTTTCTTTTC TT	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	9/22	chr2	110547932
chr2:110549708	A A	G G	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.1067-106T>C c.1067-106T>C	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	8/22	chr2	110549708
chr2:110550413	C C	T T	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.1067-811G>A c.1067-811G>A	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	8/22	chr2	110550413
chr2:110550446	C C	G G	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.1067-844G>C c.1067-844G>C	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	8/22	chr2	110550446
chr2:110552241	C C	T T	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.979-430G>A c.979-430G>A	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	7/22	chr2	110552241
chr2:110554130	C C	T T	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.979-2319G>A c.979-2319G>A	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	7/22	chr2	110554130
chr2:110554277	G G	T T	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.979-2466C>A c.979-2466C>A	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	7/22	chr2	110554277
chr2:110554820	T T	C C	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.979-3009A>G c.979-3009A>G	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	7/22	chr2	110554820
chr2:110555040	C C	G G	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.978+2812G>C c.978+2812G>C	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	7/22	chr2	110555040
chr2:110555098	C C	T T	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.978+2754G>A c.978+2754G>A	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	7/22	chr2	110555098
chr2:110555255	G G	T T	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.978+2597C>A c.978+2597C>A	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	7/22	chr2	110555255
chr2:110555976	C C	T T	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.978+1876G>A c.978+1876G>A	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	7/22	chr2	110555976
chr2:110556055	A A	G G	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.978+1797T>C c.978+1797T>C	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	7/22	chr2	110556055
chr2:110556113	A A	G G	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.978+1739T>C c.978+1739T>C	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	7/22	chr2	110556113
chr2:110556332	A A	G G	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.978+1520T>C c.978+1520T>C	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	7/22	chr2	110556332
chr2:110556340	T T	C C	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.978+1512A>G c.978+1512A>G	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	7/22	chr2	110556340
chr2:110556382	A A	G G	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.978+1470T>C c.978+1470T>C	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	7/22	chr2	110556382
chr2:110556575	C C	T T	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.978+1277G>A c.978+1277G>A	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	7/22	chr2	110556575
chr2:110556649	A A	G G	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.978+1203T>C c.978+1203T>C	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	7/22	chr2	110556649
chr2:110558304	A A	G G	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.783-257T>C c.783-257T>C	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	6/22	chr2	110558304
chr2:110558780	C C	G G	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.783-733G>C c.783-733G>C	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	6/22	chr2	110558780
chr2:110559877	G G	A A	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.783-1830C>T c.783-1830C>T	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	6/22	chr2	110559877
chr2:110560670	C C	T T	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.782+1942G>A c.782+1942G>A	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	6/22	chr2	110560670
chr2:110560898	C C	A A	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.782+1714G>T c.782+1714G>T	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	6/22	chr2	110560898
chr2:110561129	A A	G G	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.782+1483T>C c.782+1483T>C	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	6/22	chr2	110561129
chr2:110561391	C C	T T	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.782+1221G>A c.782+1221G>A	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	6/22	chr2	110561391
chr2:110561692	G G	A A	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.782+920C>T c.782+920C>T	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	6/22	chr2	110561692
chr2:110563557	C C	T T	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.406-224G>A c.406-224G>A	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	4/22	chr2	110563557
chr2:110563702	C C	T T	1	a0002c0001t0001g0002 a0002c0001t0001g0002	1	HG01978.hp1 HG01978.hp1	intron_variant	MODIFIER	c.406-369G>A c.406-369G>A	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	4/22	chr2	110563702
chr2:110563708	T T	C C	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.406-375A>G c.406-375A>G	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	4/22	chr2	110563708
chr2:110563959	T T	C C	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.406-626A>G c.406-626A>G	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	4/22	chr2	110563959
chr2:110565569	A A	G G	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.405+1807T>C c.405+1807T>C	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	4/22	chr2	110565569
chr2:110566145	T T	C C	1	a0002c0001t0001g0002 a0002c0001t0001g0002	1	HG01978.hp1 HG01978.hp1	intron_variant	MODIFIER	c.405+1231A>G c.405+1231A>G	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	4/22	chr2	110566145
chr2:110566393	A A	G G	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.405+983T>C c.405+983T>C	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	4/22	chr2	110566393
chr2:110569751	C C	T T	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.73-27G>A c.73-27G>A	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	1/22	chr2	110569751
chr2:110570447	A A	G G	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.73-723T>C c.73-723T>C	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	1/22	chr2	110570447
chr2:110572251	CT CT	C C	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.73-2528delA c.73-2528delA	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	1/22	chr2	110572251
chr2:110572565	C C	CAAAACAT others(44): Show CAAAACATAATAGAAAAATAATTCCATTACCTTCTTTGCTTCCAACTATG TT	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.73-2892_73-2842dup others(51): Show c.73-2892_73-2842dupAACATAGTTGGAAGCAAAGAAGGTAATGGA ATTATTTTTCTATTATGTTTT	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	1/22	chr2	110572565
chr2:110572819	C C	A A	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.73-3095G>T c.73-3095G>T	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	1/22	chr2	110572819
chr2:110573131	A A	G G	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.73-3407T>C c.73-3407T>C	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	1/22	chr2	110573131
chr2:110573148	C C	T T	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.73-3424G>A c.73-3424G>A	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	1/22	chr2	110573148
chr2:110573425	T T	C C	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.72+3528A>G c.72+3528A>G	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	1/22	chr2	110573425
chr2:110573561	A A	G G	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.72+3392T>C c.72+3392T>C	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	1/22	chr2	110573561
chr2:110573961	G G	C C	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.72+2992C>G c.72+2992C>G	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	1/22	chr2	110573961
chr2:110574174	C C	G G	2	a0001c0002t0001g0001 a0002c0001t0001g0002 a0001c0002t0001g0001 a0002c0001t0001g0002	2	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	intron_variant	MODIFIER	c.72+2779G>C c.72+2779G>C	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	1/22	chr2	110574174
chr2:110576712	AAGCGCCG others(14): Show AAGCGCCGGCGCCAACGGTCTC	A A	1	a0002c0001t0001g0002 a0002c0001t0001g0002	1	HG01978.hp1 HG01978.hp1	intron_variant	MODIFIER	c.72+220_72+240delGA others(19): Show c.72+220_72+240delGAGACCGTTGGCGCCGGCGCT	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	1/22	chr2	110576712
chr2:110576892	C C	CCGCCCCC others(323): Show CCGCCCCCCCCCGGCCGCCGCCGCCGCCCCCCGGCCGGGCCGGGGCCGCC GCCGCCGCCGCCGCCGCCCCCCGGCCGGGCCGGGGCCGAGGCCGCCGCCG CCGCCGCCCCCCGGCCGGGCCGGGGCCGAGGCCGCCGCCGCCGCCGCCCC CCGGCCGGGCCGAGGCCGCCGCCGCCGCCGCCCCCCGGCCGGGCCGGGGC CGCCGCCGCCGCCGCCGCCGCCCCCCGGCCGGGCCGGGGCCGAGGCCGCC GCCGCCGCCGCCCCCCGGCCGGGCCGGGGCCGAGGCCGCCGCCGCCGCCG CCCCCCGGCCGGGCCGAGGCCGCCGCCGCCG	1	a0001c0002t0001g0001 a0001c0002t0001g0001	1	HG01978.hp2 HG01978.hp2	intron_variant	MODIFIER	c.72+60_72+61insCGGC others(326): Show c.72+60_72+61insCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGG CGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGC GGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCC CCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGG GCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGG CGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGC GGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCCGGGGGGGGGCG	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	1/22	chr2	110576892
chr2:110576899	C C	CCGGCCGC others(430): Show CCGGCCGCCGCCGCCGCCGCCGTCGCCGCCCCCCGGCCGGGCCGAGGCCG CCGCCGCCGCCGCCCCCCGGCCGGGACGAGGCCGCCGCCGCCGCCGCCCC CCGGCCGGGCCGAGGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCCCCCCG GCCGGGCCGGGGCCGAGGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCCCC CGGCCGGGCCGGGGCCGAGGCCGCCGCCGCCGCCGCCCCCCGGCCGGGCC GAGGCCGCCGCCGCCGCCGCCGCCGCCCCCCGGCCGGGCCGAGGCCGCCG CCGCCGCCGCCGCCGCCGCCGCCCCCCGGCCGGGCCGGGGCCGAGGCCGC CGCCGCCGCCGCCCCCCGGCCGGGCCGGGGCCGAGGCCGCCGCCGCCGCC GCCCCCCGGCCGGGCCGAGGCCGCCGCCGCCGCCCCCT	1	a0002c0001t0001g0002 a0002c0001t0001g0002	1	HG01978.hp1 HG01978.hp1	intron_variant	MODIFIER	c.72+53_72+54insAGGG others(433): Show c.72+53_72+54insAGGGGGCGGCGGCGGCGGCCTCGGCCCGGCCGGG GGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGC GGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCG GCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGG CCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCG GCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCC CGGCCGGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCGG CCGGGGGGCGGCGGCGGCGGCGGCCTCGTCCCGGCCGGGGGGCGGCGGCG GCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGACGGCGGCGGCGGCGGCGG CCG	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	1/22	chr2	110576899
chr2:110576901	T T	C C	1	a0002c0001t0001g0002 a0002c0001t0001g0002	1	HG01978.hp1 HG01978.hp1	intron_variant	MODIFIER	c.72+52A>G c.72+52A>G	RGPD6	ENSG00000183054.13	transcript	ENST00000329516.8	protein_coding	1/22	chr2	110576901

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🧬 JoGo Online Haplotype Explorer RGPD6_chr2_110508802_110582222

JoGo Local Haplotype Explorer (on iGV) RGPD6_chr2_110508802_110582222

Translation Multiple Alignment View

ACTG-Haplotype Mutation Positions 3D Viewer

🧬 Gene Summary

AAmino acid(protein) Level Haplotype Info (Total: 2)

CCoding Level Haplotype Info (Total: 2)

TTranscript Level Haplotype Info (Total: 1)

GGenebody Level Haplotype Info (Total: 2)

A C AC Level (Amino Acid + Coding) Haplotype Info (Total: 2)

A C T ACT Level (Amino Acid + Coding + Transcript) Haplotype Info (Total: 2)

A C T G ACTG Level (Amino Acid + Coding + Transcript + Genebody) Haplotype Info (Total: 2)

Haplotype Details by Sample (Haploid Level) (Total: 2)

AAmino acid(protein) Level Haplotype Related Variants (Effect to Protein Coding Variants) (Total: 6)

CCoding Level Variants (Synonymous Mutations) (Total: 2)

TTranscript Level Haplotype Variants (5'UTR+3'UTR) (Total: 7)

GGenebody Level Haplotype Variants (Intron) (Total: 110)

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Annotation (Repeats)

Annotation (SNP Array)