Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
HOXA3_chr7_27102010_27157583	27152087	TGTGTGTG others(9): Show TGTGTGTGCGTGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(136): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG03017.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18957.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18991.hp2 NA18992.hp2 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19065.hp2 NA19066.hp2 NA19079.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA20300.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0003 a0003c0004 others(1): Show a0001c0001 a0001c0003 a0003c0004 a0005c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0030 a0001c0003t0006 a0003c0004t0026 a0005c0007t0003	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(128): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0063 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0060 a0001c0001t0003g0062 a0001c0001t0004g0116 a0001c0001t0004g0136 a0001c0001t0004g0161 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0179 a0001c0001t0006g0112 a0001c0001t0006g0118 a0001c0001t0006g0121 a0001c0001t0006g0122 a0001c0001t0006g0123 a0001c0001t0006g0138 a0001c0001t0006g0146 a0001c0001t0006g0152 a0001c0001t0007g0002 a0001c0001t0007g0003 a0001c0001t0007g0023 a0001c0001t0007g0044 a0001c0001t0010g0101 a0001c0001t0016g0028 a0001c0001t0016g0029 a0001c0001t0016g0061 a0001c0001t0017g0132 a0001c0001t0017g0155 a0001c0001t0021g0058 a0001c0001t0021g0059 a0001c0001t0023g0050 a0001c0001t0024g0125 a0001c0001t0025g0169 a0001c0001t0027g0134 a0001c0001t0030g0126 a0001c0003t0006g0110 a0003c0004t0026g0130 a0005c0007t0003g0043	139	326	0.4264	-16	c.-49 others(33): Show c.-494+185_-494+200delGCGCGCACGCACACAC	HOXA3	ENSG00000105997.23	transcript	ENST00000612286.5	protein_coding	1/5			chr7	TogoVar
HOXA5_chr7_27136052_27148681	27140001	CAGAGAGA others(9): Show CAGAGAGAGAGAGAGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG02109.hp2 HG03098.hp1 others(4): Show HG01081.hp1 HG02109.hp2 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0008 a0001c0004t0008 a0001c0001t0001 a0001c0001t0008 a0001c0004t0008	a0001c0001t0001g0001 a0001c0001t0008g0012 a0001c0004t0008g0052 a0001c0001t0001g0001 a0001c0001t0008g0012 a0001c0004t0008g0052	7	398	0.0176	-16	c.18 others(27): Show c.1818_*1833delCTCTCTCTCTCTCTCT	HOXA5	ENSG00000106004.5	transcript	ENST00000222726.4	protein_coding		1050		chr7	TogoVar
HOXA6_chr7_27140396_27152774	27152077	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0055 a0001c0002t0004g0055	1	386	0.0026	-16	c.-43 others(27): Show c.-4344_-4329delACACACACACACACAC	HOXA6	ENSG00000106006.6	transcript	ENST00000222728.3	protein_coding		4304		chr7	TogoVar
HOXA6_chr7_27140396_27152774	27152087	TGTGTGTG others(9): Show TGTGTGTGCGTGCGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(183): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG03017.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18984.hp1 NA18987.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013	a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0026 others(27): Show a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0003g0015 a0001c0001t0003g0019 a0001c0001t0004g0025 a0001c0001t0005g0005 a0001c0001t0005g0030 a0001c0001t0005g0042 a0001c0001t0005g0048 a0001c0001t0005g0051 a0001c0001t0007g0044 a0001c0001t0009g0018 a0001c0001t0011g0040 a0001c0001t0013g0046	186	386	0.4819	-16	c.-43 others(27): Show c.-4354_-4339delGCGCGCACGCACACAC	HOXA6	ENSG00000106006.6	transcript	ENST00000222728.3	protein_coding		4314		chr7	TogoVar
HOXA7_chr7_27148716_27161675	27152077	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0003 a0002c0003t0001g0003	1	396	0.0025	-16	c.28 others(27): Show c.2816_*2831delACACACACACACACAC	HOXA7	ENSG00000122592.8	transcript	ENST00000242159.5	protein_coding		1638		chr7	TogoVar
HOXA7_chr7_27148716_27161675	27152087	TGTGTGTG others(9): Show TGTGTGTGCGTGCGCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(185): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG03017.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19057.hp1 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0005t0005	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0020 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0004g0006 a0001c0001t0005g0008 a0001c0001t0007g0011 a0001c0001t0009g0016 a0001c0001t0010g0017 a0001c0001t0013g0018 a0001c0001t0014g0019 a0001c0005t0005g0015	188	396	0.4748	-16	c.28 others(27): Show c.2806_*2821delGCGCGCACGCACACAC	HOXA7	ENSG00000122592.8	transcript	ENST00000242159.5	protein_coding		1628		chr7	TogoVar
HOXB13_chr17_48719763_48733750	48731314	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	426	0.0024	-16	c.-27 others(27): Show c.-2737_-2722delTTTTTTTTTTTTTTTT	HOXB13	ENSG00000159184.8	transcript	ENST00000290295.8	protein_coding		2565		chr17	TogoVar
HOXB8_chr17_48607346_48620292	48619223	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	422	0.0024	-16	c.-45 others(27): Show c.-4535_-4520delACACACACACACACAC	HOXB8	ENSG00000120068.7	transcript	ENST00000239144.5	protein_coding		3932		chr17	TogoVar
HOXB9_chr17_48616156_48631358	48619223	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	422	0.0024	-16	c.36 others(27): Show c.3661_*3676delACACACACACACACAC	HOXB9	ENSG00000170689.10	transcript	ENST00000311177.7	protein_coding		1932		chr17	TogoVar
HOXC11_chr12_53968126_53982643	53979655	CCACACAC others(9): Show CCACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01099.hp2 HG02922.hp2 HG00741.hp2 HG01099.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	396	0.0076	-16	c.42 others(27): Show c.4243_*4258delCACACACACACACACA	HOXC11	ENSG00000123388.4	transcript	ENST00000546378.1	protein_coding		2013		chr12	TogoVar
HOXC11_chr12_53968126_53982643	53979686	CACACACA others(9): Show CACACACACACACACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG02145.hp2 HG02572.hp1 others(8): Show HG00738.hp1 HG02145.hp2 HG02572.hp1 HG02602.hp2 HG02717.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp2 HG03516.hp1 HG03831.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0016 a0001c0001t0021 others(1): Show a0001c0001t0007 a0001c0001t0016 a0001c0001t0021 a0001c0001t0049	a0001c0001t0007g0001 a0001c0001t0007g0006 a0001c0001t0016g0001 others(2): Show a0001c0001t0007g0001 a0001c0001t0007g0006 a0001c0001t0016g0001 a0001c0001t0021g0001 a0001c0001t0049g0001	11	396	0.0278	-16	c.42 others(27): Show c.4274_*4289delACACACACACACACAT	HOXC11	ENSG00000123388.4	transcript	ENST00000546378.1	protein_coding		2044		chr12	TogoVar
HOXC13_chr12_53933831_53951544	53942154	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01256.hp2 HG01993.hp1 others(16): Show HG01168.hp1 HG01256.hp2 HG01993.hp1 HG02080.hp1 HG02165.hp2 HG02293.hp1 HG02300.hp2 HG02976.hp1 NA18957.hp1 NA18964.hp2 NA18992.hp1 NA18992.hp2 NA19055.hp2 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0030 a0001c0001t0001g0047 a0001c0001t0001g0005 a0001c0001t0001g0030 a0001c0001t0001g0047	19	402	0.0473	-16	c.736 others(33): Show c.736+2534_736+2549delTTTTTTTTTTTTTTTT	HOXC13	ENSG00000123364.5	transcript	ENST00000243056.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
HOXC13_chr12_53933831_53951544	53947557	GCACACAC others(9): Show GCACACACACACACACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG03041.hp1 HG03098.hp2 others(1): Show HG01884.hp1 HG03041.hp1 HG03098.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0022 a0001c0001t0014g0076 a0001c0001t0002g0022 a0001c0001t0014g0076	4	402	0.0100	-16	c.23 others(27): Show c.2302_*2317delCACACACACACACACA	HOXC13	ENSG00000123364.5	transcript	ENST00000243056.5	protein_coding		1014		chr12	TogoVar
HP1BP3_chr1_20735266_20792307	20750320	AAAACACA others(9): Show AAAACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	378	0.0027	-16	c.982 others(31): Show c.982-454_982-439delGTGTGTGTGTGTGTTT	HP1BP3	ENSG00000127483.19	transcript	ENST00000438032.6	protein_coding	9/12			chr1	TogoVar
HP1BP3_chr1_20735266_20792307	20750322	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(101): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00673.hp1 HG01074.hp2 HG01255.hp2 HG01361.hp2 HG01516.hp1 HG01928.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02273.hp2 HG02451.hp1 HG02523.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02922.hp2 HG03139.hp2 HG03453.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03654.hp2 HG03831.hp1 HG03834.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18944.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18987.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp2 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19082.hp1 NA19085.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0016 a0001c0001t0026 a0001c0001t0029 a0001c0001t0032 a0001c0002t0010	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(96): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0207 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0352 a0001c0001t0001g0354 a0001c0001t0002g0197 a0001c0001t0002g0237 a0001c0001t0003g0061 a0001c0001t0013g0243 a0001c0001t0013g0280 a0001c0001t0016g0022 a0001c0001t0026g0333 a0001c0001t0029g0290 a0001c0001t0032g0277 a0001c0002t0010g0217 a0001c0002t0010g0218 a0001c0002t0010g0221	104	378	0.2751	-16	c.982 others(31): Show c.982-456_982-441delGTGTGTGTGTGTGTGT	HP1BP3	ENSG00000127483.19	transcript	ENST00000438032.6	protein_coding	9/12			chr1	TogoVar
HP1BP3_chr1_20735266_20792307	20750364	CACACACA others(9): Show CACACACACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA18906.hp1 NA20300.hp2 others(2): Show HG04199.hp2 NA18906.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0265 a0001c0001t0008g0345 a0001c0001t0008g0346 others(2): Show a0001c0001t0008g0265 a0001c0001t0008g0345 a0001c0001t0008g0346 a0001c0001t0008g0347 a0001c0001t0008g0348	5	378	0.0132	-16	c.982 others(31): Show c.982-498_982-483delTTGTGTGTGTGTGTGT	HP1BP3	ENSG00000127483.19	transcript	ENST00000438032.6	protein_coding	9/12			chr1	TogoVar
HP1BP3_chr1_20735266_20792307	20778645	TTAGGCCA others(9): Show TTAGGCCAGGGTGCCCA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02145.hp2 others(12): Show HG01884.hp2 HG02055.hp1 HG02145.hp2 HG02486.hp2 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02970.hp1 HG03130.hp1 HG03139.hp2 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0003g0061 others(12): Show a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0084	15	378	0.0397	-16	c.196 others(33): Show c.196+1151_196+1166delTGGGCACCCTGGCCTA	HP1BP3	ENSG00000127483.19	transcript	ENST00000438032.6	protein_coding	3/12			chr1	TogoVar
HPCAL1_chr2_10297904_10432604	10403452	TTTTGTGT others(9): Show TTTTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp1 HG02615.hp1 others(15): Show HG01891.hp1 HG02280.hp1 HG02615.hp1 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG03041.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03516.hp2 HG06807.hp2 NA18522.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0018	a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0069 others(15): Show a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0113 a0001c0001t0003g0121 a0001c0001t0003g0286 a0001c0001t0003g0294 a0001c0001t0003g0301 a0001c0001t0005g0008 a0001c0001t0005g0120 a0001c0001t0005g0273 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0005g0283 a0001c0001t0011g0148 a0001c0001t0011g0149 a0001c0001t0018g0291	18	314	0.0573	-16	c.-25 others(33): Show c.-25+6534_-25+6549delTTGTGTGTGTGTGTGT	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10414365	AGGTGTTG others(9): Show AGGTGTTGGCAGGGTTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02145.hp2 HG03486.hp2 others(2): Show HG00099.hp2 HG02145.hp2 HG03486.hp2 HG04199.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0001 a0001c0001t0003 a0001c0001t0013	a0001c0001t0001g0045 a0001c0001t0001g0088 a0001c0001t0003g0172 others(2): Show a0001c0001t0001g0045 a0001c0001t0001g0088 a0001c0001t0003g0172 a0001c0001t0003g0265 a0001c0001t0013g0146	5	314	0.0159	-16	c.-24 others(33): Show c.-24-5336_-24-5321delGGTGTTGGCAGGGTTG	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10429490	GGGTCCCT others(9): Show GGGTCCCTAGGTGGATC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00438.hp1 others(87): Show HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG01175.hp1 HG01255.hp2 HG01256.hp2 HG01346.hp2 HG01981.hp1 HG02004.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02300.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG03017.hp1 HG03490.hp1 HG03704.hp1 HG04184.hp1 NA18612.hp1 NA18747.hp2 NA18943.hp2 NA18944.hp2 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19056.hp2 NA19060.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0016	a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0054 others(87): Show a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0099 a0001c0001t0001g0110 a0001c0001t0001g0123 a0001c0001t0001g0132 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0208 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0288 a0001c0001t0001g0306 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0002g0031 a0001c0001t0002g0037 a0001c0001t0002g0042 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0142 a0001c0001t0002g0164 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0183 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0210 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0238 a0001c0001t0002g0272 a0001c0001t0003g0015 a0001c0001t0003g0019 a0001c0001t0003g0131 a0001c0001t0003g0134 a0001c0001t0003g0179 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0221 a0001c0001t0003g0298 a0001c0001t0004g0058 a0001c0001t0004g0074 a0001c0001t0004g0079 a0001c0001t0004g0105 a0001c0001t0004g0130 a0001c0001t0004g0165 a0001c0001t0004g0249 a0001c0001t0004g0305 a0001c0001t0008g0026 a0001c0001t0016g0127	90	314	0.2866	-16	c.26 others(27): Show c.2670_*2685delGGTCCCTAGGTGGATC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding		1887		chr2	TogoVar
HPGDS_chr4_94293535_94347836	94340260	CCTTTCTT others(9): Show CCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	312	0.0032	-16	c.-10 others(33): Show c.-10+2519_-10+2534delAAAGAAAGAAAGAAAG	HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5			chr4	TogoVar
HPGDS_chr4_94293535_94347836	94340301	CTTTCTTT others(9): Show CTTTCTTTCTCTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	312	0.0032	-16	c.-10 others(33): Show c.-10+2478_-10+2493delAAAAAAGAGAAAGAAA	HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5			chr4	TogoVar
HPGDS_chr4_94293535_94347836	94340311	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0256 a0001c0001t0002g0256	1	312	0.0032	-16	c.-10 others(33): Show c.-10+2468_-10+2483delAAAAAAAAAAAAAAAA	HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5			chr4	TogoVar
HPGD_chr4_174485175_174527488	174504814	AAAACAAA others(9): Show AAAACAAACAAACAAAC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02615.hp2 HG02970.hp2 others(1): Show HG01891.hp2 HG02615.hp2 HG02970.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0026 a0001c0001t0001g0163 a0001c0002t0001g0128 a0001c0001t0001g0026 a0001c0001t0001g0163 a0001c0002t0001g0128	4	414	0.0097	-16	c.421 others(33): Show c.421+3866_421+3881delGTTTGTTTGTTTGTTT	HPGD	ENSG00000164120.14	transcript	ENST00000296522.11	protein_coding	4/6			chr4	TogoVar
HPRT1_chrX_134455165_134505668	134481505	CTCTATCT others(9): Show CTCTATCTATCTATCTA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03471.hp1 HG02572.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0032 a0001c0001t0001g0034	2	276	0.0073	-16	c.319 others(33): Show c.319-4919_319-4904delTCTATCTATCTATCTA	HPRT1	ENSG00000165704.15	transcript	ENST00000298556.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
HPS4_chr22_26445882_26488783	26451992	GCGCGCGC others(9): Show GCGCGCGCGCGCGCACA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0014 a0014	a0014c0024 a0014c0024	a0014c0024t0056 a0014c0024t0056	a0014c0024t0056g0224 a0014c0024t0056g0224	1	404	0.0025	-16	c.12 others(27): Show c.1225_*1240delTGTGCGCGCGCGCGCG	HPS4	ENSG00000100099.22	transcript	ENST00000398145.7	protein_coding	14/14	1225		chr22	TogoVar
HPS4_chr22_26445882_26488783	26451994	GCGCGCGC others(9): Show GCGCGCGCGCGCACACA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01175.hp1 HG02004.hp2 HG02723.hp2 others(2): Show HG01175.hp1 HG02004.hp2 HG02723.hp2 HG02818.hp2 HG06807.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0005 a0004c0008 a0001c0001 a0002c0005 a0004c0008	a0001c0001t0055 a0002c0005t0054 a0004c0008t0027 a0001c0001t0055 a0002c0005t0054 a0004c0008t0027	a0001c0001t0055g0160 a0002c0005t0054g0125 a0004c0008t0027g0027 others(1): Show a0001c0001t0055g0160 a0002c0005t0054g0125 a0004c0008t0027g0027 a0004c0008t0027g0070	5	404	0.0124	-16	c.12 others(27): Show c.1223_*1238delTGTGTGCGCGCGCGCG	HPS4	ENSG00000100099.22	transcript	ENST00000398145.7	protein_coding	14/14	1223		chr22	TogoVar
HPS4_chr22_26445882_26488783	26451998	GCGCGCGC others(9): Show GCGCGCGCACACACACA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG02630.hp1 others(3): Show HG01256.hp1 HG01258.hp2 HG02630.hp1 HG02886.hp1 HG02895.hp1 NA19030.hp2	a0003 a0006 a0003 a0006	a0003c0003 a0006c0011 a0003c0003 a0006c0011	a0003c0003t0021 a0006c0011t0022 a0003c0003t0021 a0006c0011t0022	a0003c0003t0021g0022 a0003c0003t0021g0066 a0006c0011t0022g0030 others(1): Show a0003c0003t0021g0022 a0003c0003t0021g0066 a0006c0011t0022g0030 a0006c0011t0022g0108	6	404	0.0149	-16	c.12 others(27): Show c.1219_*1234delTGTGTGTGTGCGCGCG	HPS4	ENSG00000100099.22	transcript	ENST00000398145.7	protein_coding	14/14	1219		chr22	TogoVar
HPS4_chr22_26445882_26488783	26452000	GCGCGCAC others(9): Show GCGCGCACACACACACA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG04184.hp1 others(15): Show HG00597.hp1 HG00609.hp2 HG04184.hp1 NA18942.hp1 NA18951.hp2 NA18956.hp2 NA18975.hp1 NA18976.hp1 NA18991.hp1 NA19002.hp2 NA19054.hp2 NA19058.hp1 NA19062.hp2 NA19066.hp2 NA19080.hp2 NA19082.hp2 NA19084.hp2 NA19090.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0003 a0003c0004t0007g0017 a0003c0004t0007g0028 others(5): Show a0003c0004t0007g0003 a0003c0004t0007g0017 a0003c0004t0007g0028 a0003c0004t0007g0100 a0003c0004t0007g0103 a0003c0004t0007g0104 a0003c0004t0007g0105 a0003c0004t0007g0109	18	404	0.0446	-16	c.12 others(27): Show c.1217_*1232delTGTGTGTGTGTGCGCG	HPS4	ENSG00000100099.22	transcript	ENST00000398145.7	protein_coding	14/14	1217		chr22	TogoVar
HPSE2_chr10_98452077_99240852	98511555	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00597.hp1 others(27): Show HG00323.hp2 HG00438.hp1 HG00597.hp1 HG00639.hp2 HG00673.hp1 HG01081.hp2 HG01167.hp1 HG01361.hp2 HG01928.hp1 HG01993.hp2 HG02135.hp2 HG02273.hp1 HG03490.hp1 HG03490.hp2 HG03710.hp2 HG04184.hp1 NA18747.hp2 NA18939.hp2 NA18946.hp2 NA18950.hp1 NA18954.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp2 NA19003.hp1 NA19009.hp1 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0032 a0002c0002t0002 a0002c0002t0010 a0002c0002t0021	a0001c0001t0001g0019 a0001c0001t0001g0039 a0001c0001t0001g0048 others(27): Show a0001c0001t0001g0019 a0001c0001t0001g0039 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0086 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0004g0033 a0001c0001t0004g0070 a0001c0001t0004g0112 a0001c0001t0004g0115 a0001c0001t0009g0049 a0001c0001t0009g0057 a0001c0001t0009g0122 a0001c0001t0032g0142 a0002c0002t0002g0015 a0002c0002t0002g0017 a0002c0002t0002g0043 a0002c0002t0002g0050 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0128 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0010g0042 a0002c0002t0010g0056 a0002c0002t0021g0099	30	142	0.2113	-16	c.132 others(37): Show c.1321-21375_1321-21360delACACACACACACACAC	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	9/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98949250	GCACACAC others(9): Show GCACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG01081.hp2 others(19): Show HG00099.hp2 HG00323.hp1 HG01081.hp2 HG01884.hp2 HG02083.hp2 HG02257.hp2 HG02451.hp1 HG02723.hp2 HG03098.hp2 HG03490.hp2 HG03654.hp1 HG03710.hp1 HG04184.hp2 NA18946.hp2 NA18966.hp2 NA18968.hp1 NA18977.hp2 NA18979.hp2 NA19009.hp1 NA19030.hp2 NA19083.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0024 a0001c0001t0025 a0002c0002t0002 a0002c0002t0007 a0002c0002t0012 a0002c0002t0020 a0002c0002t0021	a0001c0001t0001g0038 a0001c0001t0001g0127 a0001c0001t0001g0129 others(19): Show a0001c0001t0001g0038 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0003g0131 a0001c0001t0003g0135 a0001c0001t0009g0049 a0001c0001t0024g0132 a0001c0001t0025g0130 a0002c0002t0002g0005 a0002c0002t0002g0126 a0002c0002t0002g0128 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0140 a0002c0002t0007g0010 a0002c0002t0007g0031 a0002c0002t0007g0032 a0002c0002t0012g0078 a0002c0002t0012g0080 a0002c0002t0020g0139 a0002c0002t0021g0099	22	142	0.1549	-16	c.610 others(37): Show c.610+194972_610+194987delTGTGTGTGTGTGTGTG	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99060658	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0004 a0001c0001t0008g0004	1	142	0.0070	-16	c.610 others(35): Show c.610+83564_610+83579delTTTTTTTTTTTTTTTT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99072927	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03579.hp2 NA18946.hp1 others(2): Show HG02145.hp2 HG03579.hp2 NA18946.hp1 NA19030.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0014 a0001c0001t0027 others(2): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0027 a0002c0002t0002 a0002c0002t0015	a0001c0001t0001g0058 a0001c0001t0014g0001 a0001c0001t0027g0003 others(2): Show a0001c0001t0001g0058 a0001c0001t0014g0001 a0001c0001t0027g0003 a0002c0002t0002g0005 a0002c0002t0015g0002	5	142	0.0352	-16	c.610 others(35): Show c.610+71295_610+71310delTTTTTTTTTTTTTTTT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99164227	TTATATAT others(9): Show TTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02258.hp2 HG02523.hp1 others(5): Show HG00423.hp2 HG02258.hp2 HG02523.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG03540.hp1 HG03710.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0014 a0001c0006t0001 a0002c0002t0002	a0001c0001t0001g0071 a0001c0001t0003g0075 a0001c0001t0003g0077 others(5): Show a0001c0001t0001g0071 a0001c0001t0003g0075 a0001c0001t0003g0077 a0001c0001t0009g0057 a0001c0001t0014g0136 a0001c0006t0001g0100 a0002c0002t0002g0068 a0002c0002t0002g0076	8	142	0.0563	-16	c.449 others(35): Show c.449-19844_449-19829delTATATATATATATATA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	2/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99184813	TATATATA others(9): Show TATATATAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	142	0.0070	-16	c.449 others(35): Show c.449-40430_449-40415delCTCTCTCTCTATATAT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	2/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99186104	CCACACAC others(9): Show CCACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03098.hp2 NA19240.hp2 HG02257.hp2 HG03098.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0015 a0002c0002t0007 a0002c0002t0015	a0002c0002t0007g0031 a0002c0002t0007g0032 a0002c0002t0015g0002 a0002c0002t0007g0031 a0002c0002t0007g0032 a0002c0002t0015g0002	3	142	0.0211	-16	c.449 others(35): Show c.449-41721_449-41706delTGTGTGTGTGTGTGTG	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	2/11			chr10	TogoVar
HPSE_chr4_83287461_83339848	83325130	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02896.hp1 HG02976.hp1 others(1): Show HG01981.hp2 HG02896.hp1 HG02976.hp1 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 a0002c0002t0001	a0001c0001t0001g0069 a0001c0001t0003g0255 a0001c0001t0018g0293 others(1): Show a0001c0001t0001g0069 a0001c0001t0003g0255 a0001c0001t0018g0293 a0002c0002t0001g0306	4	320	0.0125	-16	c.228 others(33): Show c.228-2782_228-2767delACACACACACACACAC	HPSE	ENSG00000173083.16	transcript	ENST00000311412.10	protein_coding	1/11			chr4	TogoVar
HRH1_chr3_11149493_11268557	11180948	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0328 a0001c0004t0009g0328	1	352	0.0028	-16	c.-36 others(35): Show c.-36+26431_-36+26446delACACACACACACACAC	HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
HRH1_chr3_11149493_11268557	11247565	CTGGATTT others(9): Show CTGGATTTGTCTGGACG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(189): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00423.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01934.hp2 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02683.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp2 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19077.hp1 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0006 a0007	a0001c0001 a0004c0006 a0005c0007 others(2): Show a0001c0001 a0004c0006 a0005c0007 a0006c0011 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0004c0006t0001 a0005c0007t0001 a0006c0011t0001 a0007c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(189): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0310 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0349 a0001c0001t0001g0351 a0001c0001t0002g0259 a0001c0001t0003g0006 a0001c0001t0003g0014 a0001c0001t0003g0114 a0001c0001t0003g0132 a0001c0001t0003g0201 a0001c0001t0003g0205 a0001c0001t0003g0228 a0001c0001t0003g0239 a0001c0001t0003g0286 a0001c0001t0003g0293 a0001c0001t0007g0313 a0001c0001t0011g0137 a0001c0001t0011g0297 a0001c0001t0017g0226 a0001c0001t0019g0227 a0001c0001t0020g0208 a0004c0006t0001g0235 a0004c0006t0001g0253 a0004c0006t0001g0254 a0005c0007t0001g0041 a0006c0011t0001g0011 a0007c0008t0001g0207	192	352	0.5455	-16	c.-35 others(35): Show c.-35-11434_-35-11419delATTTGTCTGGACGTGG	HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
HRH2_chr5_175653071_175715756	175656303	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0113 a0001c0001t0005g0113	1	264	0.0038	-16	c.-23 others(27): Show c.-2377_-2362delAAATAAATAAATAAAT	HRH2	ENSG00000113749.8	transcript	ENST00000636584.2	protein_coding		1767		chr5	TogoVar
HRH3_chr20_62209960_62225278	62213303	GGGAGGGA others(9): Show GGGAGGGAGAGCGGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG03540.hp2 HG02486.hp1 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0011 a0001c0003 a0001c0011	a0001c0003t0003 a0001c0011t0003 a0001c0003t0003 a0001c0011t0003	a0001c0003t0003g0037 a0001c0011t0003g0052 a0001c0003t0003g0037 a0001c0011t0003g0052	2	368	0.0054	-16	c.26 others(27): Show c.2687_*2702delTCCCCGCTCTCCCTCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1656		chr20	TogoVar
HRK_chr12_116851144_116886441	116854847	AACACACA others(9): Show AACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0121 a0001c0001t0055g0121	1	366	0.0027	-16	c.66 others(27): Show c.6660_*6675delGTGTGTGTGTGTGTGT	HRK	ENSG00000135116.9	transcript	ENST00000257572.5	protein_coding		1296		chr12	TogoVar
HRK_chr12_116851144_116886441	116858574	TCACACAC others(9): Show TCACACACACACACACA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp1 HG02109.hp2 HG02257.hp2 HG00741.hp1 HG02109.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0094 a0001c0001t0041 a0001c0001t0094	a0001c0001t0041g0198 a0001c0001t0041g0284 a0001c0001t0094g0197 a0001c0001t0041g0198 a0001c0001t0041g0284 a0001c0001t0094g0197	3	366	0.0082	-16	c.29 others(27): Show c.2933_*2948delTGTGTGTGTGTGTGTG	HRK	ENSG00000135116.9	transcript	ENST00000257572.5	protein_coding	2/2	22442		chr12	TogoVar
HRK_chr12_116851144_116886441	116862708	TTTTGTTT others(9): Show TTTTGTTTGTTTGTTTG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00741.hp1 others(58): Show HG00408.hp1 HG00438.hp1 HG00741.hp1 HG01109.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG02071.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02630.hp2 HG02717.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG06807.hp2 NA18906.hp1 NA18942.hp2 NA18943.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18957.hp2 NA18962.hp2 NA18964.hp2 NA18969.hp2 NA18971.hp2 NA18983.hp2 NA18992.hp2 NA19002.hp1 NA19003.hp1 NA19007.hp1 NA19054.hp1 NA19055.hp1 NA19057.hp1 NA19058.hp2 NA19062.hp1 NA19082.hp1 NA19084.hp1 NA19088.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 others(26): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0024 a0001c0001t0038 a0001c0001t0041 a0001c0001t0045 a0001c0001t0058 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0094 a0001c0001t0099 a0001c0001t0101 a0001c0001t0102 a0001c0001t0107 a0001c0001t0109 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0122 a0001c0001t0123 a0001c0001t0126 a0001c0002t0018 a0001c0002t0039 a0001c0002t0040	a0001c0001t0005g0005 a0001c0001t0005g0028 a0001c0001t0005g0050 others(45): Show a0001c0001t0005g0005 a0001c0001t0005g0028 a0001c0001t0005g0050 a0001c0001t0005g0135 a0001c0001t0005g0233 a0001c0001t0005g0247 a0001c0001t0006g0009 a0001c0001t0006g0075 a0001c0001t0014g0027 a0001c0001t0014g0194 a0001c0001t0014g0195 a0001c0001t0014g0196 a0001c0001t0017g0029 a0001c0001t0017g0225 a0001c0001t0017g0235 a0001c0001t0018g0199 a0001c0001t0018g0201 a0001c0001t0019g0030 a0001c0001t0019g0250 a0001c0001t0019g0251 a0001c0001t0024g0014 a0001c0001t0038g0060 a0001c0001t0038g0074 a0001c0001t0041g0198 a0001c0001t0041g0284 a0001c0001t0045g0232 a0001c0001t0045g0234 a0001c0001t0058g0137 a0001c0001t0081g0245 a0001c0001t0082g0222 a0001c0001t0083g0246 a0001c0001t0094g0197 a0001c0001t0099g0253 a0001c0001t0101g0244 a0001c0001t0102g0200 a0001c0001t0107g0223 a0001c0001t0109g0230 a0001c0001t0115g0219 a0001c0001t0116g0224 a0001c0001t0117g0227 a0001c0001t0122g0248 a0001c0001t0123g0228 a0001c0001t0126g0226 a0001c0002t0018g0286 a0001c0002t0018g0287 a0001c0002t0039g0035 a0001c0002t0040g0285 a0001c0002t0040g0288	61	366	0.1667	-16	c.57 others(33): Show c.57-1258_*57-1243delCAAACAAACAAACAAA	HRK	ENSG00000135116.9	transcript	ENST00000257572.5	protein_coding	1/1			chr12	TogoVar
HRNR_chr1_152207076_152229193	152228065	AATATATA others(9): Show AATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0191 a0001c0191	a0001c0191t0013 a0001c0191t0013	a0001c0191t0013g0191 a0001c0191t0013g0191	1	418	0.0024	-16	c.-39 others(27): Show c.-3964_-3949delATATATATATATATAT	HRNR	ENSG00000197915.7	transcript	ENST00000368801.4	protein_coding		3873		chr1	TogoVar
HROB_chr17_44136930_44167476	44137101	AAAGGAAG others(9): Show AAAGGAAGGAAGGAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 NA18999.hp1 NA21309.hp2 HG04204.hp2 NA18999.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0005g0040 a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0005g0040	3	322	0.0093	-16	c.-50 others(27): Show c.-5041_-5026delAAGGAAGGAAGGAAGG	HROB	ENSG00000125319.15	transcript	ENST00000585683.6	protein_coding		4828		chr17	TogoVar
HROB_chr17_44136930_44167476	44137155	AGGAAGGA others(9): Show AGGAAGGAAGGAAGGGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02486.hp2 HG02258.hp2 HG02486.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0003 a0004c0004t0002 a0004c0004t0003	a0004c0004t0002g0043 a0004c0004t0003g0018 a0004c0004t0002g0043 a0004c0004t0003g0018	2	322	0.0062	-16	c.-49 others(27): Show c.-4987_-4972delGGAAGGAAGGAAGGGC	HROB	ENSG00000125319.15	transcript	ENST00000585683.6	protein_coding		4774		chr17	TogoVar
HR_chr8_22109419_22136010	22111350	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00738.hp2 HG01099.hp1 others(27): Show HG00280.hp1 HG00738.hp2 HG01099.hp1 HG01192.hp1 HG01884.hp2 HG02055.hp1 HG02109.hp2 HG02257.hp2 HG02258.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02717.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03041.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03540.hp2 NA18950.hp1 NA18952.hp2 NA18956.hp2 NA19057.hp2 NA20300.hp1 NA20805.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0007 a0012 a0013 a0015 a0023	a0001c0001 a0002c0002 a0003c0004 others(5): Show a0001c0001 a0002c0002 a0003c0004 a0007c0008 a0012c0019 a0013c0024 a0015c0023 a0023c0032	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(6): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0003c0004t0002 a0007c0008t0003 a0012c0019t0002 a0013c0024t0002 a0015c0023t0015 a0023c0032t0002	a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0116 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0116 a0001c0001t0002g0087 a0001c0001t0002g0099 a0001c0001t0002g0100 a0002c0002t0002g0002 a0003c0004t0002g0006 a0003c0004t0002g0022 a0003c0004t0002g0053 a0007c0008t0003g0107 a0012c0019t0002g0019 a0013c0024t0002g0054 a0013c0024t0002g0055 a0015c0023t0015g0033 a0023c0032t0002g0051	30	408	0.0735	-16	c.43 others(27): Show c.4334_*4349delCACACACACACACACA	HR	ENSG00000168453.16	transcript	ENST00000381418.9	protein_coding		3068		chr8	TogoVar
HS1BP3_chr2_20612818_20656098	20631516	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00323.hp2 others(98): Show HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp2 HG00733.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01123.hp1 HG01261.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02132.hp2 HG02165.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp2 HG02602.hp2 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG02897.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18946.hp2 NA18947.hp1 NA18951.hp1 NA18954.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18975.hp1 NA18980.hp2 NA18989.hp2 NA18991.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19065.hp1 NA19066.hp2 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19080.hp1 NA19086.hp2 NA19087.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0003 a0001c0013 a0003c0004 others(4): Show a0001c0003 a0001c0013 a0003c0004 a0003c0010 a0003c0012 a0003c0015 a0006c0008	a0001c0003t0004 a0001c0003t0005 a0001c0003t0012 others(6): Show a0001c0003t0004 a0001c0003t0005 a0001c0003t0012 a0001c0013t0004 a0003c0004t0002 a0003c0010t0010 a0003c0012t0002 a0003c0015t0002 a0006c0008t0002	a0001c0003t0004g0011 a0001c0003t0004g0013 a0001c0003t0004g0015 others(80): Show a0001c0003t0004g0011 a0001c0003t0004g0013 a0001c0003t0004g0015 a0001c0003t0004g0035 a0001c0003t0004g0036 a0001c0003t0004g0037 a0001c0003t0004g0045 a0001c0003t0004g0054 a0001c0003t0004g0095 a0001c0003t0004g0097 a0001c0003t0004g0099 a0001c0003t0004g0102 a0001c0003t0004g0103 a0001c0003t0004g0110 a0001c0003t0004g0111 a0001c0003t0004g0115 a0001c0003t0004g0134 a0001c0003t0004g0169 a0001c0003t0004g0172 a0001c0003t0004g0173 a0001c0003t0004g0174 a0001c0003t0004g0189 a0001c0003t0004g0204 a0001c0003t0004g0246 a0001c0003t0004g0260 a0001c0003t0004g0261 a0001c0003t0004g0264 a0001c0003t0004g0272 a0001c0003t0004g0273 a0001c0003t0004g0282 a0001c0003t0004g0283 a0001c0003t0004g0337 a0001c0003t0004g0338 a0001c0003t0004g0339 a0001c0003t0005g0263 a0001c0003t0012g0320 a0001c0003t0012g0321 a0001c0013t0004g0329 a0003c0004t0002g0003 a0003c0004t0002g0007 a0003c0004t0002g0009 a0003c0004t0002g0012 a0003c0004t0002g0017 a0003c0004t0002g0040 a0003c0004t0002g0052 a0003c0004t0002g0056 a0003c0004t0002g0058 a0003c0004t0002g0075 a0003c0004t0002g0076 a0003c0004t0002g0078 a0003c0004t0002g0092 a0003c0004t0002g0094 a0003c0004t0002g0124 a0003c0004t0002g0130 a0003c0004t0002g0131 a0003c0004t0002g0132 a0003c0004t0002g0137 a0003c0004t0002g0138 a0003c0004t0002g0188 a0003c0004t0002g0200 a0003c0004t0002g0245 a0003c0004t0002g0259 a0003c0004t0002g0268 a0003c0004t0002g0270 a0003c0004t0002g0278 a0003c0004t0002g0280 a0003c0004t0002g0288 a0003c0004t0002g0289 a0003c0004t0002g0302 a0003c0004t0002g0303 a0003c0004t0002g0304 a0003c0004t0002g0312 a0003c0004t0002g0317 a0003c0004t0002g0318 a0003c0004t0002g0330 a0003c0010t0010g0279 a0003c0010t0010g0287 a0003c0012t0002g0109 a0003c0015t0002g0187 a0006c0008t0002g0100 a0006c0008t0002g0136 a0006c0008t0002g0224 a0006c0008t0002g0269	101	404	0.2500	-16	c.624 others(33): Show c.624-6640_624-6625delTTTTTTTTTTTTTTTT	HS1BP3	ENSG00000118960.13	transcript	ENST00000304031.8	protein_coding	4/6			chr2	TogoVar
HS2ST1_chr1_86909635_87114982	86985383	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03453.hp1 HG03486.hp2 others(1): Show HG02145.hp1 HG03453.hp1 HG03486.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0003g0044 others(1): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0003g0044 a0001c0001t0003g0045	4	154	0.0260	-16	c.124 others(35): Show c.124+70225_124+70240delCACACACACACACACA	HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar

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