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
HOXD11_chr2_176102280_176114754	176111826	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00642.hp1 HG01106.hp2 others(11): Show HG00280.hp2 HG00642.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG02148.hp2 HG02300.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0005 a0001c0001t0002g0009 a0001c0001t0002g0027 others(6): Show a0001c0001t0002g0005 a0001c0001t0002g0009 a0001c0001t0002g0027 a0001c0001t0003g0002 a0001c0001t0003g0004 a0001c0001t0003g0010 a0001c0001t0003g0017 a0001c0001t0003g0020 a0001c0001t0003g0023	14	430	0.0326	17	c.26 others(28): Show c.2684_*2685insAAAAAAAAAAAAAAAAA	HOXD11	ENSG00000128713.14	transcript	ENST00000249504.7	protein_coding		2073		chr2	TogoVar
HP1BP3_chr1_20735266_20792307	20746227	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0067 a0001c0001t0003g0067	1	378	0.0027	17	c.125 others(34): Show c.1254-572_1254-571insCACACACACACACACAC	HP1BP3	ENSG00000127483.19	transcript	ENST00000438032.6	protein_coding	11/12			chr1	TogoVar
HPD_chr12_121834527_121863859	121834987	T T	TTTCTTTT others(10): Show TTTCTTTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	406	0.0025	17	c.47 others(28): Show c.4740_*4741insGAAAGAAAGAAAAAGAA	HPD	ENSG00000158104.11	transcript	ENST00000289004.8	protein_coding		4539		chr12	TogoVar
HPD_chr12_121834527_121863859	121835030	T T	TCTTTCTT others(10): Show TCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	406	0.0025	17	c.46 others(28): Show c.4697_*4698insGAAAGAAAGAAAGAAAG	HPD	ENSG00000158104.11	transcript	ENST00000289004.8	protein_coding		4496		chr12	TogoVar
HPGDS_chr4_94293535_94347836	94340310	T T	TTTCTTTC others(10): Show TTTCTTTCTTTCTTTTTC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	312	0.0032	17	c.-10 others(34): Show c.-10+2484_-10+2485insGAAAAAGAAAGAAAGAA	HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5			chr4	TogoVar
HPGD_chr4_174485175_174527488	174497568	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA20300.hp2 HG03540.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0005 a0001c0001t0005 a0001c0002t0005	a0001c0001t0005g0159 a0001c0002t0005g0090 a0001c0001t0005g0159 a0001c0002t0005g0090	2	414	0.0048	17	c.422 others(34): Show c.422-1961_422-1945dupAAAAAAAAAAAAAAAAA	HPGD	ENSG00000164120.14	transcript	ENST00000296522.11	protein_coding	4/6			chr4	TogoVar
HPS5_chr11_18273676_18327140	18277072	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0012 a0011c0015t0012	a0011c0015t0012g0072 a0011c0015t0012g0072	1	372	0.0027	17	c.28 others(28): Show c.2809_*2810insTTTTTTTTTTTTTTTTT	HPS5	ENSG00000110756.18	transcript	ENST00000349215.8	protein_coding		1603		chr11	TogoVar
HPS5_chr11_18273676_18327140	18302831	G G	GGGGGGGG others(10): Show GGGGGGGGGGGGGGGGGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01361.hp2 HG02809.hp2 others(2): Show HG01243.hp1 HG01361.hp2 HG02809.hp2 HG03491.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0001 a0001c0003t0004	a0001c0001t0001g0324 a0001c0003t0001g0020 a0001c0003t0004g0066 others(2): Show a0001c0001t0001g0324 a0001c0003t0001g0020 a0001c0003t0004g0066 a0001c0003t0004g0068 a0001c0003t0004g0070	5	372	0.0134	17	c.897 others(34): Show c.897-1916_897-1915insTCCCCCCCCCCCCCCCC	HPS5	ENSG00000110756.18	transcript	ENST00000349215.8	protein_coding	8/22			chr11	TogoVar
HPSE2_chr10_98452077_99240852	98600926	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0035 a0001c0001t0022g0035	1	142	0.0070	17	c.132 others(38): Show c.1320+13977_1320+13978insTATATATATATATATAT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	9/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98688465	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0082 a0001c0001t0005g0082	1	142	0.0070	17	c.100 others(36): Show c.1004+5434_1004+5435insAAAAAAAAAAAAAAAAA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	6/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98778264	C C	CGAGAGAG others(10): Show CGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0094 a0001c0001t0005g0094	1	142	0.0070	17	c.611 others(36): Show c.611-34209_611-34208insCTCTCTCTCTCTCTCTC	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98778297	A A	AGAGAGAG others(10): Show AGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0080 a0002c0002t0012g0080	1	142	0.0070	17	c.611 others(36): Show c.611-34242_611-34241insCTCTCTCTCTCTCTCTC	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99094540	A A	ATATATAT others(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0001 a0001c0001t0014g0001	1	142	0.0070	17	c.610 others(36): Show c.610+49697_610+49698insAAATATATATATATATA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99094540	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	142	0.0070	17	c.610 others(36): Show c.610+49697_610+49698insAAAAATATATATATATA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99132191	A A	AAGAAAGA others(10): Show AAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0100 a0001c0007t0001g0100	1	142	0.0070	17	c.610 others(36): Show c.610+12046_610+12047insCTTCTTTCTTTCTTTCT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99132193	G G	GAAAGAAA others(10): Show GAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0133 a0002c0002t0002g0133	1	142	0.0070	17	c.610 others(36): Show c.610+12044_610+12045insTCTTTCTTTCTTTCTTT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99132197	G G	GAAAGAAA others(10): Show GAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0049 a0001c0001t0009g0049	1	142	0.0070	17	c.610 others(36): Show c.610+12040_610+12041insTCTTTCTTTCTTTCTTT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HRH2_chr5_175653071_175715756	175708396	G G	GAAAGGAA others(10): Show GAAAGGAAAGGAAAAGAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0119 a0001c0001t0044g0119	1	264	0.0038	17	c.42 others(26): Show c.427_*443dupAAGGAAAGGAAAAGACA	HRH2	ENSG00000113749.8	transcript	ENST00000636584.2	protein_coding	3/3	444	INFO_REALIGN_3_PRIME	chr5	TogoVar
HRH3_chr20_62209960_62225278	62212037	C C	CTCAAGGC others(10): Show CTCAAGGCTGGCTGTTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	368	0.0027	17	c.39 others(28): Show c.3968_*3969insCGAACAGCCAGCCTTGA	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		2922		chr20	TogoVar
HS2ST1_chr1_86909635_87114982	86990837	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03017.hp2 HG03831.hp2 others(1): Show HG00639.hp1 HG03017.hp2 HG03831.hp2 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0025 a0001c0001t0001 a0001c0001t0012 a0001c0001t0025	a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0012g0092 others(1): Show a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0012g0092 a0001c0001t0025g0069	4	154	0.0260	17	c.124 others(36): Show c.124+75677_124+75678insATATATATATATATATA	HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6			chr1	TogoVar
HS2ST1_chr1_86909635_87114982	87051101	A A	AATATATA others(10): Show AATATATATATTTTTATT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01891.hp1 HG02109.hp1 others(17): Show HG00741.hp2 HG01891.hp1 HG02109.hp1 HG02258.hp2 HG02280.hp2 HG02572.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03486.hp1 HG03579.hp2 NA18522.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 others(3): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0029 a0002c0003t0007	a0001c0001t0003g0130 a0001c0001t0006g0023 a0001c0001t0006g0028 others(17): Show a0001c0001t0003g0130 a0001c0001t0006g0023 a0001c0001t0006g0028 a0001c0001t0006g0029 a0001c0001t0006g0030 a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 a0001c0001t0007g0120 a0001c0001t0007g0121 a0001c0001t0007g0122 a0001c0001t0007g0123 a0001c0001t0007g0124 a0001c0001t0011g0105 a0001c0001t0011g0106 a0001c0001t0011g0107 a0001c0001t0011g0108 a0001c0001t0011g0109 a0001c0001t0029g0118 a0002c0003t0007g0051	20	154	0.1299	17	c.125 others(36): Show c.125-21831_125-21830insATATATATTTTTATTAT	HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
HS3ST1_chr4_11388150_11433894	11429643	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG02056.hp2 NA18985.hp1 others(1): Show HG00323.hp2 HG02056.hp2 NA18985.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0316 others(1): Show a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0316 a0001c0001t0003g0224	4	440	0.0091	17	c.-10 others(28): Show c.-1054_-1053insAAAAAAAAAAAAAAAAA	HS3ST1	ENSG00000002587.10	transcript	ENST00000002596.6	protein_coding		750		chr4	TogoVar
HS3ST3A1_chr17_13489032_13606929	13560289	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01074.hp1 HG01123.hp1 others(5): Show HG00673.hp1 HG01074.hp1 HG01123.hp1 HG01167.hp2 HG01175.hp2 HG02970.hp1 NA18968.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0052 a0001c0001t0077 a0001c0002t0001	a0001c0001t0001g0174 a0001c0001t0002g0093 a0001c0001t0006g0123 others(5): Show a0001c0001t0001g0174 a0001c0001t0002g0093 a0001c0001t0006g0123 a0001c0001t0052g0084 a0001c0001t0077g0317 a0001c0002t0001g0102 a0001c0002t0001g0109 a0001c0002t0001g0248	8	338	0.0237	17	c.599 others(36): Show c.599+40225_599+40241dupTTTTTTTTTTTTTTTTT	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
HS3ST3A1_chr17_13489032_13606929	13560318	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0050 a0001c0002t0025g0050	1	338	0.0030	17	c.599 others(36): Show c.599+40212_599+40213insGTTTTTTTTTTTTTTTT	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
HS3ST3A1_chr17_13489032_13606929	13585186	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02040.hp2 NA18970.hp2 HG00408.hp1 HG02040.hp2 NA18970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0011 a0001c0002t0001 a0002c0004t0015 a0001c0001t0011 a0001c0002t0001 a0002c0004t0015	a0001c0001t0011g0070 a0001c0002t0001g0230 a0002c0004t0015g0281 a0001c0001t0011g0070 a0001c0002t0001g0230 a0002c0004t0015g0281	3	338	0.0089	17	c.599 others(36): Show c.599+15328_599+15344dupAAAAAAAAAAAAAAAAA	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
HS3ST4_chr16_25686959_26142685	25857948	C C	CTTTCTTT others(10): Show CTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0003 a0006c0005t0003	a0006c0005t0003g0135 a0006c0005t0003g0135	1	164	0.0061	17	c.734 others(38): Show c.734+164800_734+164816dupTCTTTCTTTCTTTCTTT	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	26054269	G G	GAGAGAGA others(10): Show GAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	164	0.0061	17	c.735 others(36): Show c.735-81343_735-81342insAGAGAGAGAGAGAGAGA	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1			chr16	TogoVar
HS3ST5_chr6_114050596_114348023	114341220	G G	GAGAGAGA others(10): Show GAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0068 a0001c0001t0005g0068	1	206	0.0049	17	c.-33 others(34): Show c.-339+974_-339+975insTCTCTCTCTCTCTCTCT	HS3ST5	ENSG00000249853.9	transcript	ENST00000312719.10	protein_coding	1/4			chr6	TogoVar
HS6ST3_chr13_96085107_96844562	96260620	C C	CTTTTCTT others(10): Show CTTTTCTTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03130.hp2 NA18906.hp2 HG02895.hp2 HG03130.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0022 a0001c0001t0002 a0001c0001t0006 a0001c0001t0022	a0001c0001t0002g0115 a0001c0001t0006g0116 a0001c0001t0022g0078 a0001c0001t0002g0115 a0001c0001t0006g0116 a0001c0001t0022g0078	3	116	0.0259	17	c.707 others(38): Show c.707+169065_707+169081dupCTTTTTTTCTTTTCTTT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96304711	C C	CTTTCTTT others(10): Show CTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA20300.hp2 HG02145.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0011 a0001c0001t0008g0015 a0001c0001t0002g0011 a0001c0001t0008g0015	2	116	0.0172	17	c.707 others(38): Show c.707+213145_707+213146insCTTTCTTTCTTTCTTTT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96351335	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTTTAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	116	0.0086	17	c.707 others(38): Show c.707+259766_707+259767insTTTTTTTTTTTTTAAAA	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1			chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96459100	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA20129.hp2 HG03834.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0026 a0001c0001t0002 a0001c0001t0026	a0001c0001t0002g0004 a0001c0001t0026g0081 a0001c0001t0002g0004 a0001c0001t0026g0081	2	116	0.0172	17	c.707 others(38): Show c.707+367540_707+367556dupAAAAAAAAAAAAAAAAA	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96464138	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0040 a0002c0002t0005g0040	1	116	0.0086	17	c.708 others(38): Show c.708-368345_708-368329dupAAAAAAAAAAAAAAAAA	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96831954	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0085 a0001c0001t0005g0085	1	116	0.0086	17	c.708 others(32): Show c.708-526_708-510dupAAAAAAAAAAAAAAAAA	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HSBP1L1_chr18_79959643_79975822	79969330	A A	AGAAAGAA others(10): Show AGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA18959.hp1 NA19057.hp2 others(1): Show HG01261.hp2 NA18959.hp1 NA19057.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	4	412	0.0097	17	c.214 others(34): Show c.214-1110_214-1109insGAAAGAAAGAAAGAAAG	HSBP1L1	ENSG00000226742.4	transcript	ENST00000451882.3	protein_coding	3/3			chr18	TogoVar
HSBP1L1_chr18_79959643_79975822	79969335	G G	GAAAGAAA others(10): Show GAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG01106.hp1 others(10): Show HG00140.hp1 HG00408.hp1 HG01106.hp1 HG02055.hp2 HG04184.hp2 NA18960.hp1 NA18993.hp1 NA19056.hp2 NA19066.hp1 NA19070.hp2 NA19082.hp2 NA19089.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0094 a0001c0001t0003g0097 others(3): Show a0001c0001t0003g0005 a0001c0001t0003g0094 a0001c0001t0003g0097 a0001c0001t0003g0107 a0001c0001t0003g0112 a0001c0001t0003g0121	13	412	0.0316	17	c.214 others(34): Show c.214-1102_214-1086dupAGAAAGAAAGAAAGAAA	HSBP1L1	ENSG00000226742.4	transcript	ENST00000451882.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
HSBP1L1_chr18_79959643_79975822	79969394	A A	AGAAAGAA others(10): Show AGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02056.hp1 HG02897.hp2 HG00597.hp1 HG02056.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0132 a0001c0001t0001g0168 a0001c0001t0006g0207 a0001c0001t0001g0132 a0001c0001t0001g0168 a0001c0001t0006g0207	3	412	0.0073	17	c.214 others(34): Show c.214-1046_214-1045insGAAAGAAAGAAAGAAAG	HSBP1L1	ENSG00000226742.4	transcript	ENST00000451882.3	protein_coding	3/3			chr18	TogoVar
HSCB_chr22_28737039_28762510	28750945	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01346.hp1 others(33): Show HG01069.hp2 HG01071.hp1 HG01346.hp1 HG01975.hp2 HG01993.hp1 HG02132.hp2 HG02165.hp1 HG02273.hp2 HG02683.hp1 HG02886.hp1 HG03017.hp2 HG03491.hp2 HG03669.hp1 HG03710.hp1 HG03942.hp1 NA18522.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18947.hp1 NA18952.hp2 NA18954.hp2 NA18960.hp1 NA18974.hp1 NA18974.hp2 NA18981.hp2 NA18982.hp2 NA19011.hp1 NA19012.hp1 NA19058.hp1 NA19062.hp1 NA19063.hp2 NA19083.hp2 NA19085.hp1 NA19088.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0008 a0006c0006 a0001c0001 a0001c0008 a0006c0006	a0001c0001t0001 a0001c0008t0001 a0006c0006t0002 a0001c0001t0001 a0001c0008t0001 a0006c0006t0002	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0016 others(17): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0043 a0001c0001t0001g0178 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0211 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0235 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0008t0001g0219 a0006c0006t0002g0016	36	410	0.0878	17	c.569 others(32): Show c.569-288_569-272dupTTTTTTTTTTTTTTTTT	HSCB	ENSG00000100209.11	transcript	ENST00000216027.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
HSCB_chr22_28737039_28762510	28755989	T T	TAATCCCA others(10): Show TAATCCCAGCACTTTGGG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	410	0.0024	17	c.617 others(34): Show c.617-1087_617-1071dupATCCCAGCACTTTGGGA	HSCB	ENSG00000100209.11	transcript	ENST00000216027.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
HSD11B1_chr1_209699846_209739929	209709937	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	400	0.0025	17	c.517 others(34): Show c.517+2809_517+2810insCACACACACACACACAC	HSD11B1	ENSG00000117594.10	transcript	ENST00000367027.5	protein_coding	4/5			chr1	TogoVar
HSD17B11_chr4_87331515_87396188	87380863	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	390	0.0026	17	c.318 others(34): Show c.318+1375_318+1391dupTTTTTTTTTTTTTTTTT	HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	2/6			chr4	TogoVar
HSD17B12_chr11_43675738_43861615	43690400	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	280	0.0036	17	c.160 others(34): Show c.160+9414_160+9415insTTTTTTTTTTTTTTTTT	HSD17B12	ENSG00000149084.13	transcript	ENST00000278353.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
HSD17B12_chr11_43675738_43861615	43690404	A A	ATATTTTT others(10): Show ATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0144 a0002c0002t0002g0144	1	280	0.0036	17	c.160 others(34): Show c.160+9418_160+9419insATTTTTTTTTTTTTTTT	HSD17B12	ENSG00000149084.13	transcript	ENST00000278353.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
HSD17B12_chr11_43675738_43861615	43690404	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02630.hp1 HG02630.hp2 HG02257.hp2 HG02630.hp1 HG02630.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0271 a0002c0002t0002g0138 a0002c0002t0002g0156 a0001c0001t0001g0271 a0002c0002t0002g0138 a0002c0002t0002g0156	3	280	0.0107	17	c.160 others(34): Show c.160+9418_160+9434dupTTTTTTTTTTTTTTTTT	HSD17B12	ENSG00000149084.13	transcript	ENST00000278353.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
HSD17B12_chr11_43675738_43861615	43847715	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA18906.hp2 HG02717.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0008 a0001c0003t0001 a0002c0002t0008	a0001c0003t0001g0233 a0002c0002t0008g0002 a0001c0003t0001g0233 a0002c0002t0008g0002	2	280	0.0071	17	c.685 others(34): Show c.685-6998_685-6982dupAAAAAAAAAAAAAAAAA	HSD17B12	ENSG00000149084.13	transcript	ENST00000278353.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
HSD17B14_chr19_48808018_48841491	48811494	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01261.hp1 HG01516.hp1 others(8): Show HG01069.hp1 HG01261.hp1 HG01516.hp1 HG01517.hp1 HG01975.hp2 HG02040.hp1 HG02132.hp1 HG02273.hp1 NA18946.hp1 NA18963.hp1 NA19004.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0007 a0001c0001 a0002c0002 a0003c0007	a0001c0001t0001 a0002c0002t0001 a0003c0007t0001 a0001c0001t0001 a0002c0002t0001 a0003c0007t0001	a0001c0001t0001g0071 a0001c0001t0001g0109 a0001c0001t0001g0137 others(8): Show a0001c0001t0001g0071 a0001c0001t0001g0109 a0001c0001t0001g0137 a0001c0001t0001g0177 a0001c0001t0001g0235 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0283 a0002c0002t0001g0312 a0002c0002t0001g0314 a0003c0007t0001g0100	11	394	0.0279	17	c.16 others(28): Show c.1680_*1681insTTTTTTTTTTTTTTTTT	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding		1523		chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48816810	T T	TCTTTCTT others(10): Show TCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	394	0.0025	17	c.370 others(34): Show c.370-1670_370-1669insGAAAGAAAGAAAGAAAG	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48816826	T T	TCTTTCTT others(10): Show TCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03486.hp1 HG02145.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0384 a0001c0001t0001g0042 a0001c0001t0001g0384	2	394	0.0051	17	c.370 others(34): Show c.370-1686_370-1685insGAAAGAAAGAAAGAAAG	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48826528	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02896.hp2 HG02897.hp1 others(2): Show HG02258.hp2 HG02896.hp2 HG02897.hp1 HG03130.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0188 a0001c0001t0001g0189 others(2): Show a0001c0001t0001g0144 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191	5	394	0.0127	17	c.369 others(34): Show c.369+5139_369+5140insATATATTTTTTTTTTTT	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar
HSD17B2_chr16_82030253_82103534	82043684	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0306 a0001c0001t0003g0306	1	366	0.0027	17	c.265 others(34): Show c.265+8009_265+8025dupAAAAAAAAAAAAAAAAA	HSD17B2	ENSG00000086696.11	transcript	ENST00000199936.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar

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