Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
HORMAD1_chr1_150693060_150725895	150693797	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	392	0.0026	22	c.48 others(33): Show c.4835_*4856dupCACACACACACACACACACACA	HORMAD1	ENSG00000143452.16	transcript	ENST00000361824.7	protein_coding		4262		chr1	TogoVar
HORMAD2_chr22_30075464_30182075	30088114	T T	TACACACA others(15): Show TACACACACATACACATGTGTAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02630.hp2 HG02976.hp2 others(1): Show HG01243.hp1 HG02630.hp2 HG02976.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0054 a0002c0002t0001g0070 a0002c0002t0001g0071 others(1): Show a0002c0002t0001g0054 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072	4	350	0.0114	22	c.-37 others(39): Show c.-37-5801_-37-5800insCACACACATACACATGTGTACA	HORMAD2	ENSG00000176635.18	transcript	ENST00000336726.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
HORMAD2_chr22_30075464_30182075	30088118	C C	CACACACA others(15): Show CACACACACACATGTGTACATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01993.hp1 HG01167.hp1 HG01169.hp2 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077	3	350	0.0086	22	c.-37 others(39): Show c.-37-5792_-37-5791insACACATGTGTACATATACACAC	HORMAD2	ENSG00000176635.18	transcript	ENST00000336726.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
HORMAD2_chr22_30075464_30182075	30125216	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01123.hp2 HG01358.hp2 others(7): Show HG00558.hp1 HG01123.hp2 HG01358.hp2 HG03041.hp2 HG03579.hp2 NA18962.hp2 NA18978.hp2 NA18980.hp2 NA18999.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0064 a0001c0001t0001g0098 a0001c0001t0001g0119 others(7): Show a0001c0001t0001g0064 a0001c0001t0001g0098 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0037 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0047	10	350	0.0286	22	c.819 others(39): Show c.819+3007_819+3028dupTTTTTTTTTTTTTTTTTTTTTT	HORMAD2	ENSG00000176635.18	transcript	ENST00000336726.11	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
HOXA13_chr7_27189364_27205091	27202822	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01123.hp2 HG01928.hp1 others(5): Show HG00140.hp2 HG01123.hp2 HG01928.hp1 HG02735.hp2 HG03486.hp2 HG03704.hp2 HG03834.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0001 a0001c0005t0001g0016 a0001c0001t0001g0001 a0001c0005t0001g0016	8	416	0.0192	22	c.-27 others(33): Show c.-2746_-2745insTTTTTTTTTTTTTTTTTTTTTT	HOXA13	ENSG00000106031.9	transcript	ENST00000649031.1	protein_coding		2732		chr7	TogoVar
HOXA3_chr7_27102010_27157583	27111485	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02922.hp2 HG03486.hp2 HG02897.hp2 HG02922.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0211 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0211	3	326	0.0092	22	c.-12 others(39): Show c.-120-747_-120-726dupACACACACACACACACACACAC	HOXA3	ENSG00000105997.23	transcript	ENST00000612286.5	protein_coding	4/5			chr7	TogoVar
HOXA3_chr7_27102010_27157583	27114744	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01175.hp2 HG02015.hp2 others(8): Show HG00621.hp1 HG01175.hp2 HG02015.hp2 HG02132.hp2 HG02293.hp1 HG02615.hp2 HG06807.hp1 NA18965.hp2 NA18975.hp2 NA18979.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0025	a0001c0001t0001g0099 a0001c0001t0001g0117 a0001c0001t0001g0135 others(8): Show a0001c0001t0001g0099 a0001c0001t0001g0117 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0148 a0001c0001t0001g0197 a0001c0001t0004g0136 a0001c0001t0004g0161 a0001c0001t0004g0229 a0001c0001t0008g0272 a0001c0001t0025g0169	11	326	0.0337	22	c.-12 others(41): Show c.-120-4006_-120-3985dupGTGTGTGTGTGTGTGTGTGTGT	HOXA3	ENSG00000105997.23	transcript	ENST00000612286.5	protein_coding	4/5			chr7	TogoVar
HOXA3_chr7_27102010_27157583	27140001	C C	CAGAGAGA others(15): Show CAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02293.hp2 HG02523.hp2 others(6): Show HG01934.hp1 HG02293.hp2 HG02523.hp2 HG02922.hp2 HG03486.hp2 NA18522.hp2 NA18951.hp2 NA18997.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0210 others(6): Show a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0258 a0001c0001t0002g0277 a0001c0001t0013g0019	9	326	0.0276	22	c.-39 others(37): Show c.-390+60_-390+81dupCTCTCTCTCTCTCTCTCTCTCT	HOXA3	ENSG00000105997.23	transcript	ENST00000612286.5	protein_coding	2/5			chr7	TogoVar
HOXA5_chr7_27136052_27148681	27140001	C C	CAGAGAGA others(15): Show CAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG02293.hp1 HG02523.hp1 others(6): Show HG01934.hp2 HG02293.hp1 HG02523.hp1 HG02922.hp2 HG03516.hp2 NA18522.hp1 NA18951.hp2 NA18997.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0019	a0001c0001t0003g0003 a0001c0001t0005g0005 a0001c0001t0005g0021 others(2): Show a0001c0001t0003g0003 a0001c0001t0005g0005 a0001c0001t0005g0021 a0001c0001t0008g0027 a0001c0001t0019g0042	9	398	0.0226	22	c.18 others(33): Show c.1812_*1833dupCTCTCTCTCTCTCTCTCTCTCT	HOXA5	ENSG00000106004.5	transcript	ENST00000222726.4	protein_coding		1050		chr7	TogoVar
HOXB13_chr17_48719763_48733750	48731314	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01358.hp2 HG03654.hp1 HG00280.hp2 HG01358.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	3	426	0.0070	22	c.-27 others(33): Show c.-2722_-2721insTTTTTTTTTTTTTTTTTTTTTT	HOXB13	ENSG00000159184.8	transcript	ENST00000290295.8	protein_coding		2565		chr17	TogoVar
HOXB3_chr17_48543870_48595241	48561183	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02523.hp1 HG02622.hp1 others(2): Show HG00408.hp1 HG02523.hp1 HG02622.hp1 HG03654.hp1 NA18951.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0004	a0001c0001t0001g0010 a0001c0001t0001g0047 a0001c0001t0001g0062 others(1): Show a0001c0001t0001g0010 a0001c0001t0001g0047 a0001c0001t0001g0062 a0002c0002t0004g0241	5	374	0.0134	22	c.-24 others(41): Show c.-246-5587_-246-5566dupGTGTGTGTGTGTGTGTGTGTGT	HOXB3	ENSG00000120093.12	transcript	ENST00000498678.6	protein_coding	2/4			chr17	TogoVar
HOXB5_chr17_48586257_48598779	48595968	A A	AGGGGGGG others(15): Show AGGGGGGGGGGGGGGAGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0015 a0003c0004t0002g0015	1	414	0.0024	22	c.-22 others(33): Show c.-2287_-2286insCCCCCCCTCCCCCCCCCCCCCC	HOXB5	ENSG00000120075.6	transcript	ENST00000239151.6	protein_coding		2190		chr17	TogoVar
HOXC4_chr12_54048835_54061030	54058950	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01123.hp2 HG01361.hp1 others(5): Show HG00544.hp1 HG01123.hp2 HG01361.hp1 HG02273.hp2 HG02683.hp1 HG03041.hp1 HG03225.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006	a0001c0001t0002g0001 a0001c0001t0004g0001 a0001c0001t0006g0001 a0001c0001t0002g0001 a0001c0001t0004g0001 a0001c0001t0006g0001	8	400	0.0200	22	c.37 others(33): Show c.3745_*3746insGTGTGTGTGTGTGTGTGTGTGT	HOXC4	ENSG00000198353.8	transcript	ENST00000430889.3	protein_coding		2921		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54008826	A A	ATCTCTCT others(15): Show ATCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	306	0.0033	22	c.-45 others(31): Show c.-459_-458insTCTCTCTCTCTCTCTCTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		158		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(15): Show TTCTCTTCTCTTCTTTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	306	0.0033	22	c.26 others(33): Show c.2619_*2620insTCTCTTCTCTTCTTTCTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1232		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(15): Show TTCTCTTCTTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	306	0.0033	22	c.26 others(33): Show c.2619_*2620insTCTCTTCTTCTCTCTCTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1232		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014004	T T	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	306	0.0033	22	c.26 others(33): Show c.2623_*2624insTCTCTCTCTCTCTCTCTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1236		chr12	TogoVar
HOXD10_chr2_176111778_176124937	176111826	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0002 a0001c0001t0010g0002	1	428	0.0023	22	c.-50 others(33): Show c.-5008_-5007insAAAAAAAAAAAAAAAAAAAAAA	HOXD10	ENSG00000128710.6	transcript	ENST00000249501.5	protein_coding		4951		chr2	TogoVar
HOXD10_chr2_176111778_176124937	176119435	G G	GTATGTAT others(15): Show GTATGTATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp2 HG02559.hp2 HG03130.hp1 HG02145.hp2 HG02559.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0001 a0001c0001t0023g0002 a0001c0001t0023g0001 a0001c0001t0023g0002	3	428	0.0070	22	c.20 others(31): Show c.207_*208insGTATATATATATATATATATAT	HOXD10	ENSG00000128710.6	transcript	ENST00000249501.5	protein_coding	2/2	208	INFO_REALIGN_3_PRIME	chr2	TogoVar
HOXD11_chr2_176102280_176114754	176111826	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	430	0.0023	22	c.26 others(33): Show c.2684_*2685insAAAAAAAAAAAAAAAAAAAAAA	HOXD11	ENSG00000128713.14	transcript	ENST00000249504.7	protein_coding		2073		chr2	TogoVar
HOXD8_chr2_176124705_176137695	176127763	A A	AACACACA others(15): Show AACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	400	0.0025	22	c.-26 others(33): Show c.-2604_-2603insACACACACACACACACACACAC	HOXD8	ENSG00000175879.9	transcript	ENST00000313173.6	protein_coding		1941		chr2	TogoVar
HOXD9_chr2_176117719_176129937	176119435	G G	GTATGTAT others(15): Show GTATGTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02559.hp2 HG03130.hp1 HG02145.hp1 HG02559.hp2 HG03130.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0001c0001t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0004g0002 a0002c0002t0001g0001 a0001c0001t0001g0002 a0001c0001t0004g0002 a0002c0002t0001g0001	3	404	0.0074	22	c.-33 others(33): Show c.-3334_-3333insTATGTATATATATATATATATA	HOXD9	ENSG00000128709.13	transcript	ENST00000249499.8	protein_coding		3283		chr2	TogoVar
HOXD9_chr2_176117719_176129937	176127763	A A	AACACACA others(15): Show AACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	404	0.0025	22	c.35 others(33): Show c.3588_*3589insACACACACACACACACACACAC	HOXD9	ENSG00000128709.13	transcript	ENST00000249499.8	protein_coding		2827		chr2	TogoVar
HPCAL4_chr1_39673648_39696433	39692989	G G	GCTCTGGG others(15): Show GCTCTGGGGATCCCTTGGCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0126 a0001c0003t0003g0126	1	420	0.0024	22	c.-16 others(33): Show c.-1693_-1692insGGGTGCCAAGGGATCCCCAGAG	HPCAL4	ENSG00000116983.13	transcript	ENST00000372844.8	protein_coding		1557		chr1	TogoVar
HPN_chr19_35036721_35071573	35048082	A A	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAAAAGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00621.hp2 HG01074.hp2 others(15): Show HG00140.hp1 HG00621.hp2 HG01074.hp2 HG01099.hp1 HG01517.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02148.hp1 HG02486.hp2 HG02602.hp2 HG02809.hp2 HG02818.hp2 NA18957.hp2 NA18992.hp2 NA19012.hp2 NA19072.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0060 a0001c0001t0001g0071 a0001c0001t0001g0083 others(15): Show a0001c0001t0001g0060 a0001c0001t0001g0071 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0108 a0001c0001t0001g0202 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0245 a0001c0001t0001g0254 a0001c0001t0001g0259 a0001c0001t0001g0282 a0001c0001t0001g0294 a0001c0001t0001g0297 a0001c0001t0001g0328 a0001c0001t0002g0100 a0001c0001t0002g0257	18	384	0.0469	22	c.17- others(37): Show c.17-1207_17-1206insGAAAGAAAGAAAGAAAAAAGGA	HPN	ENSG00000105707.15	transcript	ENST00000672452.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
HPS3_chr3_149124638_149178732	149175664	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG03453.hp2 NA19043.hp2 HG02615.hp2 HG03453.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0015 a0001c0005t0015 a0001c0005t0019 a0001c0003t0015 a0001c0005t0015 a0001c0005t0019	a0001c0003t0015g0063 a0001c0005t0015g0295 a0001c0005t0019g0132 a0001c0003t0015g0063 a0001c0005t0015g0295 a0001c0005t0019g0132	3	392	0.0077	22	c.34 others(33): Show c.3442_*3443insGTGTGTGTGTGTGTGTGTGTGT	HPS3	ENSG00000163755.9	transcript	ENST00000296051.7	protein_coding		1933		chr3	TogoVar
HPSE2_chr10_98452077_99240852	98470102	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA19030.hp1 HG02809.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0025 a0001c0001t0016g0124 a0001c0001t0016g0025 a0001c0001t0016g0124	2	142	0.0141	22	c.161 others(43): Show c.1614-10385_1614-10364dupACACACACACACACACACACAC	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	11/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98512812	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0118 a0002c0002t0002g0118	1	142	0.0070	22	c.132 others(43): Show c.1321-22638_1321-22617dupGTGTGTGTGTGTGTGTGTGTGT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	9/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98580824	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp2 HG01993.hp1 HG01993.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0002 a0001c0001t0004 a0002c0002t0002	a0001c0001t0004g0115 a0002c0002t0002g0016 a0001c0001t0004g0115 a0002c0002t0002g0016	2	142	0.0141	22	c.132 others(43): Show c.1320+34079_1320+34080insTATATATATATATATATATATA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	9/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98580836	A A	ATATATAT others(15): Show ATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0098 a0004c0004t0002g0098	1	142	0.0070	22	c.132 others(43): Show c.1320+34067_1320+34068insCACACACACATATATATATATA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	9/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98580836	A A	ATATATAT others(15): Show ATATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0111 a0003c0003t0003g0111	1	142	0.0070	22	c.132 others(43): Show c.1320+34067_1320+34068insCACACACACACATATATATATA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	9/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98600911	G G	GTATATAT others(15): Show GTATATATGTGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0121 a0002c0002t0002g0121	1	142	0.0070	22	c.132 others(43): Show c.1320+13992_1320+13993insTATATACACACACACATATATA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	9/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98688465	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02809.hp2 NA18944.hp2 others(1): Show HG01361.hp2 HG02809.hp2 NA18944.hp2 NA18982.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0002c0002t0002 a0002c0002t0010 a0001c0001t0009 a0002c0002t0002 a0002c0002t0010	a0001c0001t0009g0103 a0002c0002t0002g0022 a0002c0002t0002g0123 others(1): Show a0001c0001t0009g0103 a0002c0002t0002g0022 a0002c0002t0002g0123 a0002c0002t0010g0042	4	142	0.0282	22	c.100 others(41): Show c.1004+5434_1004+5435insAAAAAAAAAAAAAAAAAAAAAA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	6/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98749947	T T	TATATATA others(15): Show TATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02523.hp1 HG02129.hp2 HG02523.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0079 a0002c0002t0002g0068 a0001c0001t0001g0079 a0002c0002t0002g0068	2	142	0.0141	22	c.611 others(39): Show c.611-5892_611-5891insGTGTGTGTGTATATATATATAT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98749947	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02647.hp2 HG02055.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0005 a0001c0001t0008	a0001c0001t0005g0082 a0001c0001t0008g0067 a0001c0001t0005g0082 a0001c0001t0008g0067	2	142	0.0141	22	c.611 others(39): Show c.611-5892_611-5891insGTGTATATATATATATATATAT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98749947	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA19009.hp2 HG03710.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0129 a0001c0001t0001g0059 a0001c0001t0001g0129	2	142	0.0141	22	c.611 others(39): Show c.611-5892_611-5891insGTATATATATATATATATATAT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98778264	C C	CAGAGAGA others(15): Show CAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	142	0.0070	22	c.611 others(41): Show c.611-34230_611-34209dupCTCTCTCTCTCTCTCTCTCTCT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98852113	A A	ATATATAT others(15): Show ATATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0095 a0001c0001t0004g0095	1	142	0.0070	22	c.611 others(43): Show c.611-108058_611-108057insCACACACACACACACATATATA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99065984	C C	CATAAGTA others(15): Show CATAAGTACAAGGCAGAAAGTGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00438.hp1 others(50): Show HG00099.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG01109.hp2 HG01167.hp1 HG01361.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02055.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02273.hp1 HG02273.hp2 HG02523.hp2 HG02572.hp1 HG02622.hp1 HG02723.hp1 HG02897.hp1 HG03209.hp1 HG03490.hp1 HG03654.hp2 HG03710.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp1 NA18946.hp1 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18966.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA19003.hp1 NA19003.hp2 NA19009.hp2 NA19083.hp2 NA19240.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0017 a0001c0001t0022 a0001c0001t0032 a0002c0002t0002 a0002c0002t0010 a0002c0002t0013 a0002c0002t0018 a0002c0002t0019 a0003c0003t0003 a0005c0005t0001	a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0034 others(50): Show a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0086 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0003g0114 a0001c0001t0004g0033 a0001c0001t0004g0064 a0001c0001t0004g0088 a0001c0001t0004g0112 a0001c0001t0004g0115 a0001c0001t0005g0091 a0001c0001t0008g0004 a0001c0001t0008g0030 a0001c0001t0009g0057 a0001c0001t0009g0122 a0001c0001t0017g0053 a0001c0001t0017g0054 a0001c0001t0022g0035 a0001c0001t0032g0142 a0002c0002t0002g0017 a0002c0002t0002g0029 a0002c0002t0002g0037 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0043 a0002c0002t0002g0045 a0002c0002t0002g0047 a0002c0002t0002g0050 a0002c0002t0002g0061 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0010g0042 a0002c0002t0010g0056 a0002c0002t0013g0046 a0002c0002t0013g0063 a0002c0002t0013g0113 a0002c0002t0018g0044 a0002c0002t0019g0089 a0003c0003t0003g0090 a0005c0005t0001g0085	53	142	0.3732	22	c.610 others(41): Show c.610+78232_610+78253dupTCACTTTCTGCCTTGTACTTAT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99132241	G G	GAAAGAAA others(15): Show GAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0130 a0001c0001t0025g0130	1	142	0.0070	22	c.610 others(41): Show c.610+11996_610+11997insTTCTTTCTTTCTTTCTTTCTTT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99132241	G G	GAGAGAAA others(15): Show GAGAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0032 a0002c0002t0007g0032	1	142	0.0070	22	c.610 others(41): Show c.610+11996_610+11997insTTCTTTCTTTCTTTCTTTCTCT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99184819	T T	TATATATA others(15): Show TATATATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	142	0.0070	22	c.449 others(41): Show c.449-40421_449-40420insCTCTATATATATATATATATAT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	2/11			chr10	TogoVar
HRG_chr3_186661014_186683234	186675296	T T	TGAGAGAG others(15): Show TGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0069	1	472	0.0021	22	c.741 others(37): Show c.741+107_741+108insAGAGAGAGAGAGAGAGAGAGAG	HRG	ENSG00000113905.5	transcript	ENST00000232003.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
HRH2_chr5_175653071_175715756	175667017	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0077 a0001c0001t0030g0077	1	264	0.0038	22	c.-52 others(41): Show c.-526+8876_-526+8877insATATATATATATATATATATAT	HRH2	ENSG00000113749.8	transcript	ENST00000636584.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
HRH3_chr20_62209960_62225278	62213251	A A	AGGGATCG others(15): Show AGGGATCGGGGGGAAGGAGAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02683.hp2 HG02723.hp2 others(2): Show HG02486.hp2 HG02683.hp2 HG02723.hp2 HG06807.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0005 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0005 a0001c0003t0001 a0001c0003t0003	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0002t0005g0022 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0002t0005g0022 a0001c0003t0001g0030 a0001c0003t0003g0031	5	368	0.0136	22	c.27 others(33): Show c.2754_*2755insCACTCTCCTTCCCCCCGATCCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1708		chr20	TogoVar
HRH3_chr20_62209960_62225278	62213381	T T	TGGGGATG others(15): Show TGGGGATGGGGGGTAAGGAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	368	0.0027	22	c.26 others(33): Show c.2624_*2625insGCTCTCCTTACCCCCCATCCCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1578		chr20	TogoVar
HRH3_chr20_62209960_62225278	62213708	C C	CAGGGATG others(15): Show CAGGGATGGGGGGGAAGGAGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG03209.hp2 HG03486.hp2 others(2): Show HG02723.hp1 HG03209.hp2 HG03486.hp2 HG03579.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0009 a0001c0001 a0002c0009	a0001c0001t0001 a0002c0009t0001 a0001c0001t0001 a0002c0009t0001	a0001c0001t0001g0001 a0002c0009t0001g0041 a0001c0001t0001g0001 a0002c0009t0001g0041	5	368	0.0136	22	c.22 others(33): Show c.2297_*2298insACTCTCCTTCCCCCCCATCCCT	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1251		chr20	TogoVar
HS2ST1_chr1_86909635_87114982	86976704	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03516.hp2 HG02976.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0021 a0001c0001t0010 a0001c0001t0021	a0001c0001t0010g0062 a0001c0001t0021g0080 a0001c0001t0010g0062 a0001c0001t0021g0080	2	154	0.0130	22	c.124 others(41): Show c.124+61561_124+61562insATATATATATATATATATATAT	HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
HS2ST1_chr1_86909635_87114982	86976704	G G	GTATGTGT others(15): Show GTATGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp2 HG02630.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0116 a0001c0001t0013g0117 a0001c0001t0013g0116 a0001c0001t0013g0117	2	154	0.0130	22	c.124 others(41): Show c.124+61547_124+61548insGTGTATATATATATATATATAT	HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
HS2ST1_chr1_86909635_87114982	87018132	C C	CCACACAC others(15): Show CCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03453.hp1 HG02451.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0030 a0001c0001t0003 a0001c0001t0030	a0001c0001t0003g0045 a0001c0001t0030g0049 a0001c0001t0003g0045 a0001c0001t0030g0049	2	154	0.0130	22	c.125 others(41): Show c.125-54791_125-54770dupCACACACACACACACACACACA	HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar

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