Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
HOMER2_chr15_82843983_82957720	82928940	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18987.hp1 HG02886.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0230 a0001c0001t0007g0133 a0001c0001t0001g0230 a0001c0001t0007g0133	2	66	0.0303	25	c.5+2 others(40): Show c.5+23590_5+23591insTTTTTTTTTTTTTTTTTTTTTTTTT	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	1/8			chr15	TogoVar
HOMEZ_chr14_23267422_23291132	23277397	A A	AAAGTCCA others(18): Show AAAGTCCATAGACGTTAAATTACCCC	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0083 a0001c0003t0001g0083	1	392	0.0026	25	c.41- others(38): Show c.41-235_41-211dupGGGGTAATTTAACGTCTATGGACTT	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HOMEZ_chr14_23267422_23291132	23278099	T T	TACAGGCA others(18): Show TACAGGCATGAGTCACCACACCCAGC	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0109 a0001c0003t0001g0109	1	392	0.0026	25	c.41- others(38): Show c.41-937_41-913dupGCTGGGTGTGGTGACTCATGCCTGT	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HOMEZ_chr14_23267422_23291132	23279863	G G	GCCTCGAA others(18): Show GCCTCGAATTCCTGGGATCAAGTGAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0184 a0001c0002t0002g0184	1	392	0.0026	25	c.41- others(40): Show c.41-2701_41-2677dupGTCACTTGATCCCAGGAATTCGAGG	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HOMEZ_chr14_23267422_23291132	23280710	T T	TTTTTATT others(18): Show TTTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00642.hp1 others(3): Show HG00280.hp1 HG00323.hp2 HG00642.hp1 HG01975.hp1 NA18961.hp1 NA19089.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0015 a0002c0001t0001g0026 a0002c0001t0001g0062 a0002c0001t0001g0015 a0002c0001t0001g0026 a0002c0001t0001g0062	6	212	0.0283	25	c.41- others(40): Show c.41-3548_41-3524dupTAAAATAAAATAAAATAAAATAAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HOMEZ_chr14_23267422_23291132	23280740	A A	ATTATTTT others(18): Show ATTATTTTATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG01515.hp2 HG00558.hp1 HG00609.hp1 HG01515.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	3	121	0.0248	25	c.41- others(40): Show c.41-3578_41-3554dupAATAAAATAAAATAAAATAAAATAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HOMEZ_chr14_23267422_23291132	23280740	A A	ATTTTATT others(18): Show ATTTTATTTTATTTTATTATTTTATT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG04184.hp1 HG02129.hp1 HG04184.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0002 a0002c0001t0001g0002	2	120	0.0167	25	c.41- others(40): Show c.41-3554_41-3553insAATAAAATAATAAAATAAAATAAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HOMEZ_chr14_23267422_23291132	23280740	A A	ATTTTATT others(18): Show ATTTTATTTTATTTTATTTTATTATT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0002 a0002c0001t0001g0002	1	119	0.0084	25	c.41- others(40): Show c.41-3554_41-3553insAATAATAAAATAAAATAAAATAAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HORMAD1_chr1_150693060_150725895	150725030	G G	GGTTGCCA others(18): Show GGTTGCCAGACTTACTTGATTCTGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	390	0.0026	25	c.-42 others(36): Show c.-4261_-4260insTCCAGAATCAAGTAAGTCTGGCAAC	HORMAD1	ENSG00000143452.16	transcript	ENST00000361824.7	protein_coding		4136		chr1	TogoVar
HORMAD2_chr22_30075464_30182075	30125216	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA18999.hp2 HG03942.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0092 a0001c0001t0002g0047 a0001c0001t0001g0092 a0001c0001t0002g0047	2	114	0.0175	25	c.819 others(42): Show c.819+3004_819+3028dupTTTTTTTTTTTTTTTTTTTTTTTTT	HORMAD2	ENSG00000176635.18	transcript	ENST00000336726.11	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
HORMAD2_chr22_30075464_30182075	30180920	C C	CCCTCTCC others(18): Show CCCTCTCCTCTCCTCTCCTCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	161	0.0062	25	c.47 others(36): Show c.4753_*4754insCCTCTCCTCTCCTCTCCTCTCCTCT	HORMAD2	ENSG00000176635.18	transcript	ENST00000336726.11	protein_coding		3846		chr22	TogoVar
HOXA13_chr7_27189364_27205091	27202822	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00673.hp2 HG01106.hp2 others(7): Show HG00438.hp1 HG00673.hp2 HG01106.hp2 HG01517.hp1 HG02015.hp2 HG02148.hp2 HG02630.hp2 HG02965.hp2 HG02970.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0026	a0001c0001t0001g0001 a0001c0001t0003g0003 a0001c0001t0009g0008 others(1): Show a0001c0001t0001g0001 a0001c0001t0003g0003 a0001c0001t0009g0008 a0001c0001t0026g0036	10	103	0.0971	25	c.-27 others(36): Show c.-2746_-2745insTTTTTTTTTTTTTTTTTTTTTTTTT	HOXA13	ENSG00000106031.9	transcript	ENST00000649031.1	protein_coding		2732		chr7	TogoVar
HOXA3_chr7_27102010_27157583	27114828	A A	ATATATAT others(18): Show ATATATATTATATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00642.hp2 others(53): Show HG00280.hp2 HG00438.hp2 HG00642.hp2 HG00673.hp1 HG00741.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01361.hp2 HG01928.hp2 HG01978.hp1 HG01981.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02132.hp1 HG02145.hp1 HG02165.hp2 HG02273.hp2 HG02300.hp1 HG02523.hp1 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG02976.hp1 HG03017.hp1 HG03195.hp2 HG03239.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG04115.hp1 HG04228.hp2 NA18943.hp2 NA18953.hp1 NA18962.hp1 NA18965.hp1 NA18967.hp2 NA18969.hp2 NA18975.hp1 NA18992.hp2 NA19030.hp1 NA19043.hp2 NA19057.hp1 NA19060.hp1 NA19066.hp2 NA20129.hp2 NA20905.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0016 a0001c0001t0021 a0001c0001t0023 a0003c0007t0003	a0001c0001t0001g0077 a0001c0001t0001g0102 a0001c0001t0001g0122 others(46): Show a0001c0001t0001g0077 a0001c0001t0001g0102 a0001c0001t0001g0122 a0001c0001t0001g0183 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0003g0001 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0037 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0051 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0064 a0001c0001t0006g0185 a0001c0001t0006g0186 a0001c0001t0006g0187 a0001c0001t0007g0052 a0001c0001t0016g0036 a0001c0001t0016g0038 a0001c0001t0016g0063 a0001c0001t0021g0010 a0001c0001t0023g0054 a0003c0007t0003g0053	56	266	0.2105	25	c.-12 others(44): Show c.-120-4069_-120-4068insATATATATAATATATATAATATATA	HOXA3	ENSG00000105997.23	transcript	ENST00000612286.5	protein_coding	4/5			chr7	TogoVar
HOXB13_chr17_48719763_48733750	48731314	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0006	1	62	0.0161	25	c.-27 others(36): Show c.-2722_-2721insTTTTTTTTTTTTTTTTTTTTTTTTT	HOXB13	ENSG00000159184.8	transcript	ENST00000290295.8	protein_coding		2565		chr17	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(18): Show TTCTCTTCTCTTCTCTTCTTTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 NA19010.hp2 NA19068.hp2 HG01516.hp2 NA19010.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	3	148	0.0203	25	c.26 others(36): Show c.2619_*2620insTCTCTTCTCTTCTCTTCTTTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1232		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(18): Show TTCTCTTCTCTTCTTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	146	0.0068	25	c.26 others(36): Show c.2619_*2620insTCTCTTCTCTTCTTCTCTCTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1232		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(18): Show TTCTCTTCTTTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0001 a0001c0001t0010g0001	1	146	0.0068	25	c.26 others(36): Show c.2619_*2620insTCTCTTCTTTCTCTCTCTCTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1232		chr12	TogoVar
HOXD3_chr2_176152307_176178098	176168566	T T	TAAAACAA others(18): Show TAAAACAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0049 a0001c0004t0008g0049	1	76	0.0132	25	c.-84 others(40): Show c.-84-444_-84-443insAAACAAAACAAAACAAAACAAAACA	HOXD3	ENSG00000128652.12	transcript	ENST00000683222.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPGDS_chr4_94293535_94347836	94316460	A A	ATATTAAT others(18): Show ATATTAATACAGGGAAATACAAATAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(144): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01993.hp2 HG02027.hp2 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18943.hp2 NA18949.hp2 NA18951.hp1 NA18952.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18965.hp2 NA18966.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp2 NA18978.hp2 NA18983.hp2 NA18986.hp1 NA18989.hp2 NA18991.hp1 NA18992.hp2 NA18995.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp2 NA19011.hp1 NA19030.hp2 NA19057.hp2 NA19058.hp1 NA19064.hp1 NA19065.hp1 NA19067.hp2 NA19070.hp1 NA19074.hp2 NA19077.hp1 NA19084.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(101): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0149 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0002g0015 a0001c0001t0002g0027 a0001c0001t0002g0099 a0001c0001t0002g0202 a0001c0001t0003g0006 a0001c0001t0006g0037 a0001c0001t0009g0054 a0001c0001t0010g0045 a0001c0005t0001g0104	147	310	0.4742	25	c.226 others(42): Show c.226+1412_226+1413insGTATTTGTATTTCCCTGTATTAATA	HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	3/5			chr4	TogoVar
HPGDS_chr4_94293535_94347836	94340309	C C	CTTTCTTT others(18): Show CTTTCTTTCTTTCTTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	209	0.0048	25	c.-10 others(42): Show c.-10+2485_-10+2486insAAGAAAAGAAAAAGAAAGAAAGAAA	HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5			chr4	TogoVar
HPGDS_chr4_94293535_94347836	94340313	T T	TTCTTTCT others(18): Show TTCTTTCTTTCTTTCTTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18612.hp1 HG02132.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0130 a0001c0001t0001g0093 a0001c0001t0001g0130	2	283	0.0071	25	c.-10 others(42): Show c.-10+2481_-10+2482insGAAAAGAAAAAGAAAGAAAGAAAGA	HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5			chr4	TogoVar
HPSE2_chr10_98452077_99240852	98477883	A A	AGTATATA others(18): Show AGTATATATATACTATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02723.hp1 NA19043.hp2 others(1): Show HG02055.hp2 HG02723.hp1 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0004 a0001c0001t0008g0030 a0001c0001t0008g0067 others(1): Show a0001c0001t0008g0004 a0001c0001t0008g0030 a0001c0001t0008g0067 a0001c0001t0008g0084	4	142	0.0282	25	c.161 others(44): Show c.1613+4752_1613+4753insATATATATATATAGTATATATATAC	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	11/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98688465	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp1 HG02895.hp1 others(1): Show HG00639.hp1 HG01081.hp1 HG02895.hp1 HG03130.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0029 a0002c0002t0011 a0001c0001t0001 a0001c0001t0029 a0002c0002t0011	a0001c0001t0001g0020 a0001c0001t0029g0083 a0002c0002t0011g0012 others(1): Show a0001c0001t0001g0020 a0001c0001t0029g0083 a0002c0002t0011g0012 a0002c0002t0011g0081	4	59	0.0678	25	c.100 others(44): Show c.1004+5434_1004+5435insAAAAAAAAAAAAAAAAAAAAAAAAA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	6/11			chr10	TogoVar
HRH3_chr20_62209960_62225278	62213077	G G	GGGGGGTA others(18): Show GGGGGGTAAGGAGAGCGGGGATGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	261	0.0038	25	c.29 others(36): Show c.2928_*2929insACCCATCCCCGCTCTCCTTACCCCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1882		chr20	TogoVar
HRH3_chr20_62209960_62225278	62213650	G G	GGGGGGGA others(18): Show GGGGGGGAAGGAGAGTGGGGATGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	358	0.0028	25	c.23 others(36): Show c.2355_*2356insACCCATCCCCACTCTCCTTCCCCCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1309		chr20	TogoVar
HRH3_chr20_62209960_62225278	62213755	G G	GATGGGTT others(18): Show GATGGGTTGGGGGAAGGAGAGTGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(98): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00544.hp1 HG00597.hp1 HG00621.hp2 HG00639.hp2 HG00735.hp2 HG00738.hp1 HG01081.hp1 HG01106.hp2 HG01175.hp1 HG01258.hp1 HG01346.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02970.hp1 HG03486.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18906.hp2 NA18945.hp2 NA18954.hp2 NA18955.hp1 NA18960.hp2 NA18961.hp1 NA18969.hp1 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18982.hp1 NA18986.hp2 NA19000.hp2 NA19006.hp1 NA19007.hp2 NA19012.hp1 NA19043.hp1 NA19057.hp1 NA19058.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19079.hp2 NA19081.hp1 NA19088.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0010 a0003c0007	a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 a0001c0003t0001 a0001c0005t0001 a0001c0008t0001 a0001c0010t0001 a0003c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(20): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0047 a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0008 a0001c0002t0001g0015 a0001c0002t0001g0020 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0032 a0001c0002t0001g0036 a0001c0002t0006g0040 a0001c0003t0001g0003 a0001c0003t0001g0007 a0001c0003t0001g0016 a0001c0003t0001g0027 a0001c0003t0001g0029 a0001c0005t0001g0019 a0001c0008t0001g0039 a0001c0010t0001g0045 a0003c0007t0001g0051	101	267	0.3783	25	c.22 others(36): Show c.2250_*2251insGCCCACTCTCCTTCCCCCAACCCAT	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1204		chr20	TogoVar
HS2ST1_chr1_86909635_87114982	86910595	T T	TTGGGAGG others(18): Show TTGGGAGGCTGAGGCAGGAGACTGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(47): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00639.hp2 HG00738.hp2 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01256.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01981.hp2 HG02055.hp2 HG02145.hp2 HG02451.hp1 HG02615.hp1 HG02647.hp1 HG02698.hp1 HG02896.hp1 HG02897.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03209.hp1 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG06807.hp2 NA18946.hp1 NA18949.hp2 NA18970.hp1 NA18973.hp1 NA18975.hp2 NA18990.hp2 NA19030.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0027 a0001c0001t0031 a0003c0002t0003	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 others(46): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0035 a0001c0001t0003g0023 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0152 a0001c0001t0005g0130 a0001c0001t0005g0131 a0001c0001t0005g0132 a0001c0001t0005g0134 a0001c0001t0005g0135 a0001c0001t0005g0136 a0001c0001t0005g0137 a0001c0001t0009g0001 a0001c0001t0009g0025 a0001c0001t0009g0026 a0001c0001t0009g0027 a0001c0001t0016g0018 a0001c0001t0016g0019 a0001c0001t0019g0144 a0001c0001t0019g0145 a0001c0001t0020g0138 a0001c0001t0020g0151 a0001c0001t0027g0133 a0001c0001t0031g0139 a0003c0002t0003g0127	50	136	0.3676	25	c.-44 others(36): Show c.-4442_-4441insTGGGAGGCTGAGGCAGGAGACTGGC	HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding		4039		chr1	TogoVar
HS2ST1_chr1_86909635_87114982	86990837	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01496.hp2 HG01884.hp2 HG00741.hp2 HG01496.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0027 a0001c0001t0001 a0001c0001t0011 a0001c0001t0027	a0001c0001t0001g0087 a0001c0001t0011g0105 a0001c0001t0027g0133 a0001c0001t0001g0087 a0001c0001t0011g0105 a0001c0001t0027g0133	3	85	0.0353	25	c.124 others(44): Show c.124+75677_124+75678insATATATATATATATATATATATATA	HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6			chr1	TogoVar
HS3ST1_chr4_11388150_11433894	11429643	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02132.hp2 NA18943.hp1 others(4): Show HG02055.hp2 HG02132.hp2 NA18943.hp1 NA18965.hp1 NA18987.hp1 NA19054.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0018 a0001c0002t0004	a0001c0001t0002g0217 a0001c0001t0002g0378 a0001c0001t0005g0261 others(4): Show a0001c0001t0002g0217 a0001c0001t0002g0378 a0001c0001t0005g0261 a0001c0001t0008g0380 a0001c0001t0009g0297 a0001c0001t0018g0375 a0001c0002t0004g0377	7	24	0.2917	25	c.-10 others(36): Show c.-1054_-1053insAAAAAAAAAAAAAAAAAAAAAAAAA	HS3ST1	ENSG00000002587.10	transcript	ENST00000002596.6	protein_coding		750		chr4	TogoVar
HS3ST3A1_chr17_13489032_13606929	13512305	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0022 a0001c0006t0022	a0001c0006t0022g0008 a0001c0006t0022g0008	1	131	0.0076	25	c.600 others(44): Show c.600-15488_600-15487insTTTTTTTTTTTTTTTTTTTTTTTTT	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
HS3ST3A1_chr17_13489032_13606929	13556514	G G	GAAATAAA others(18): Show GAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG01109.hp1 others(19): Show HG00642.hp2 HG00735.hp1 HG01109.hp1 HG01361.hp2 HG01884.hp2 HG01934.hp2 HG01952.hp2 HG02258.hp2 HG02280.hp1 HG02818.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03239.hp2 HG03486.hp1 HG04199.hp1 NA18965.hp2 NA19043.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 others(10): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0023 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0083 a0001c0002t0001 a0001c0006t0022	a0001c0001t0003g0179 a0001c0001t0003g0262 a0001c0001t0003g0270 others(19): Show a0001c0001t0003g0179 a0001c0001t0003g0262 a0001c0001t0003g0270 a0001c0001t0006g0120 a0001c0001t0006g0244 a0001c0001t0010g0025 a0001c0001t0010g0033 a0001c0001t0014g0032 a0001c0001t0014g0035 a0001c0001t0017g0306 a0001c0001t0017g0307 a0001c0001t0019g0010 a0001c0001t0023g0036 a0001c0001t0032g0185 a0001c0001t0032g0186 a0001c0001t0035g0333 a0001c0001t0035g0336 a0001c0001t0036g0335 a0001c0001t0083g0337 a0001c0002t0001g0199 a0001c0002t0001g0248 a0001c0006t0022g0008	22	251	0.0876	25	c.599 others(44): Show c.599+44016_599+44017insTATTTTATTTTATTTTATTTTATTT	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
HS3ST3A1_chr17_13489032_13606929	13560289	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG04115.hp2 HG01515.hp2 HG01517.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0010 a0001c0001t0006 a0001c0001t0010	a0001c0001t0006g0112 a0001c0001t0006g0143 a0001c0001t0010g0039 a0001c0001t0006g0112 a0001c0001t0006g0143 a0001c0001t0010g0039	3	62	0.0484	25	c.599 others(44): Show c.599+40217_599+40241dupTTTTTTTTTTTTTTTTTTTTTTTTT	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
HS3ST3A1_chr17_13489032_13606929	13585186	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18950.hp1 NA18986.hp2 HG03942.hp2 NA18950.hp1 NA18986.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0002t0001 a0002c0003t0007 a0001c0001t0002 a0001c0002t0001 a0002c0003t0007	a0001c0001t0002g0214 a0001c0002t0001g0255 a0002c0003t0007g0283 a0001c0001t0002g0214 a0001c0002t0001g0255 a0002c0003t0007g0283	3	62	0.0484	25	c.599 others(44): Show c.599+15320_599+15344dupAAAAAAAAAAAAAAAAAAAAAAAAA	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
HS3ST3B1_chr17_14296081_14354404	14327116	C C	CACTGGCC others(18): Show CACTGGCCATATCACTGACTCCTTCA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0090 a0001c0002t0001g0090	1	430	0.0023	25	c.555 others(44): Show c.555-17911_555-17887dupACTGGCCATATCACTGACTCCTTCA	HS3ST3B1	ENSG00000125430.9	transcript	ENST00000360954.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr17	TogoVar
HS3ST4_chr16_25686959_26142685	25903302	G G	GTATGTAT others(18): Show GTATGTATATGTATATATTATATACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp1 HG00735.hp1 others(36): Show HG00099.hp2 HG00609.hp1 HG00735.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01258.hp1 HG01346.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG02451.hp1 HG02486.hp1 HG02622.hp1 HG02922.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03239.hp1 HG03471.hp1 HG03540.hp1 HG04184.hp1 NA18906.hp2 NA18966.hp2 NA18968.hp1 NA18970.hp1 NA18981.hp2 NA18982.hp1 NA19005.hp1 NA19011.hp1 NA19030.hp2 NA19056.hp2 NA19083.hp1 NA20129.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0006c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0001t0020 a0001c0001t0029 a0001c0001t0032 a0001c0001t0038 a0002c0002t0003 a0002c0002t0005 a0003c0004t0003 a0006c0005t0003	a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0039 others(36): Show a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0063 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0151 a0001c0001t0002g0017 a0001c0001t0002g0021 a0001c0001t0002g0052 a0001c0001t0002g0057 a0001c0001t0002g0148 a0001c0001t0003g0130 a0001c0001t0003g0132 a0001c0001t0003g0162 a0001c0001t0004g0051 a0001c0001t0004g0083 a0001c0001t0004g0105 a0001c0001t0005g0067 a0001c0001t0005g0068 a0001c0001t0005g0070 a0001c0001t0006g0013 a0001c0001t0008g0160 a0001c0001t0010g0087 a0001c0001t0011g0147 a0001c0001t0017g0092 a0001c0001t0020g0098 a0001c0001t0029g0026 a0001c0001t0032g0023 a0001c0001t0038g0053 a0002c0002t0003g0061 a0002c0002t0003g0066 a0002c0002t0005g0157 a0003c0004t0003g0163 a0006c0005t0003g0135	39	81	0.4815	25	c.734 others(46): Show c.734+210174_734+210175insCATATGTATATGTATATATTATAT A	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS6ST2_chrX_132621015_132963629	132637929	T T	TTATATAT others(18): Show TTATATATAATATTTTATATATAATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00733.hp1 HG00738.hp1 others(28): Show HG00621.hp1 HG00733.hp1 HG00738.hp1 HG01106.hp1 HG01884.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02132.hp1 HG02683.hp1 HG02698.hp1 HG03516.hp2 HG03540.hp2 HG03704.hp2 HG03834.hp2 NA18747.hp1 NA18906.hp1 NA18945.hp1 NA18946.hp2 NA18949.hp1 NA18957.hp1 NA18966.hp1 NA19001.hp2 NA19005.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19074.hp1 NA19089.hp2 NA19091.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0012 others(28): Show a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0053 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0083 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0173 a0001c0001t0002g0180 a0001c0001t0002g0190	31	197	0.1574	25	c.106 others(44): Show c.1068-8861_1068-8837dupTATTATATATAAAATATTATATATA	HS6ST2	ENSG00000171004.19	transcript	ENST00000370833.7	protein_coding	4/4			chrX	TogoVar
HS6ST3_chr13_96085107_96844562	96842771	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 NA21309.hp2 HG03195.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0105 a0001c0001t0009g0028 a0001c0001t0001g0105 a0001c0001t0009g0028	2	46	0.0435	25	c.95 others(36): Show c.9573_*9574insTTTTTTTTTTTTTTTTTTTTTTTTT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding		3210		chr13	TogoVar
HSBP1L1_chr18_79959643_79975822	79969308	G G	GAGGAAAG others(18): Show GAGGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	405	0.0025	25	c.213 others(42): Show c.213+1126_213+1127insGGAAAGAAAGAAAGAAAGAAAGAAA	HSBP1L1	ENSG00000226742.4	transcript	ENST00000451882.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
HSBP1L1_chr18_79959643_79975822	79969331	A A	AAAAGAAA others(18): Show AAAAGAAAGAAAGAAAGAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01168.hp2 HG01169.hp2 others(4): Show HG01081.hp2 HG01168.hp2 HG01169.hp2 HG02451.hp2 HG03239.hp2 HG03654.hp2 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0002 a0001c0001t0003g0002 a0001c0001t0002g0002 a0001c0001t0003g0002	7	342	0.0205	25	c.214 others(42): Show c.214-1086_214-1085insAGAAAGAAAGAAAGAAAGAAAGAAA	HSBP1L1	ENSG00000226742.4	transcript	ENST00000451882.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
HSCB_chr22_28737039_28762510	28750945	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	112	0.0089	25	c.569 others(40): Show c.569-272_569-271insTTTTTTTTTTTTTTTTTTTTTTTTT	HSCB	ENSG00000100209.11	transcript	ENST00000216027.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
HSD17B12_chr11_43675738_43861615	43690404	A A	ATATATAT others(18): Show ATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0201 a0002c0002t0002g0201	1	28	0.0357	25	c.160 others(42): Show c.160+9418_160+9419insATATATATTTTTTTTTTTTTTTTTT	HSD17B12	ENSG00000149084.13	transcript	ENST00000278353.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
HSD17B14_chr19_48808018_48841491	48816826	T T	TCTTTCTT others(18): Show TCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG02630.hp1 others(2): Show HG02109.hp2 HG02258.hp2 HG02630.hp1 HG02717.hp1 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0011 a0001c0001 a0002c0002 a0006c0011	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0006c0011t0001	a0001c0001t0001g0146 a0001c0001t0001g0278 a0002c0002t0001g0316 others(2): Show a0001c0001t0001g0146 a0001c0001t0001g0278 a0002c0002t0001g0316 a0002c0002t0002g0018 a0006c0011t0001g0350	5	382	0.0131	25	c.370 others(42): Show c.370-1686_370-1685insGAAAGAAAGAAAGAAAGAAAGAAAG	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar
HSD17B3_chr9_96230306_96307176	96293516	T T	TCTCTCCT others(18): Show TCTCTCCTCTCCCTCTCCCTCCCTTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG02717.hp2 others(5): Show HG01884.hp2 HG02258.hp2 HG02717.hp2 HG02922.hp1 HG03471.hp1 HG03579.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0054 others(5): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0054 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0074 a0002c0002t0001g0035	8	372	0.0215	25	c.201 others(42): Show c.201+4875_201+4899dupGAAGGGAGGGAGAGGGAGAGGAGAG	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD3B2_chr1_119410150_119428034	119423922	C C	CTTTTTCT others(18): Show CTTTTTCTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	278	0.0036	25	c.13 others(36): Show c.1302_*1303insTTTTTCTTTTTTTTTTTTTTTTTTT	HSD3B2	ENSG00000203859.10	transcript	ENST00000369416.4	protein_coding		889		chr1	TogoVar
HSDL1_chr16_84117141_84150177	84148596	C C	CTCTCTCT others(18): Show CTCTCTCTCTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0168 a0002c0002t0003g0168	1	79	0.0127	25	c.-35 others(36): Show c.-3586_-3585insAAAAAAAAAAAAAAAAAGAGAGAGA	HSDL1	ENSG00000103160.12	transcript	ENST00000219439.9	protein_coding		3420		chr16	TogoVar
HSDL1_chr16_84117141_84150177	84148596	C C	CTCTCTCT others(18): Show CTCTCTCTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01517.hp2 HG01099.hp2 HG01517.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0006 a0002c0002t0003g0196 a0002c0002t0003g0006 a0002c0002t0003g0196	2	80	0.0250	25	c.-35 others(36): Show c.-3586_-3585insAAAAAAAAAAAAAAAAAAAGAGAGA	HSDL1	ENSG00000103160.12	transcript	ENST00000219439.9	protein_coding		3420		chr16	TogoVar
HSDL1_chr16_84117141_84150177	84148596	C C	CTCTCTTT others(18): Show CTCTCTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG02809.hp1 HG03139.hp1 others(3): Show HG01516.hp1 HG02809.hp1 HG03139.hp1 NA18982.hp1 NA19062.hp1 NA19072.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0002c0002t0014 a0001c0001t0001 a0002c0002t0003 a0002c0002t0014	a0001c0001t0001g0086 a0002c0002t0003g0022 a0002c0002t0003g0205 others(2): Show a0001c0001t0001g0086 a0002c0002t0003g0022 a0002c0002t0003g0205 a0002c0002t0003g0210 a0002c0002t0014g0064	6	84	0.0714	25	c.-35 others(36): Show c.-3586_-3585insAAAAAAAAAAAAAAAAAAAAAGAGA	HSDL1	ENSG00000103160.12	transcript	ENST00000219439.9	protein_coding		3420		chr16	TogoVar
HSDL1_chr16_84117141_84150177	84148596	C C	CTCTTTTT others(18): Show CTCTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 NA19005.hp1 NA19059.hp1 HG06807.hp1 NA19005.hp1 NA19059.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0004t0001 a0002c0002t0003 a0001c0001t0001 a0001c0004t0001 a0002c0002t0003	a0001c0001t0001g0100 a0001c0004t0001g0109 a0002c0002t0003g0179 a0001c0001t0001g0100 a0001c0004t0001g0109 a0002c0002t0003g0179	3	81	0.0370	25	c.-35 others(36): Show c.-3586_-3585insAAAAAAAAAAAAAAAAAAAAAAAGA	HSDL1	ENSG00000103160.12	transcript	ENST00000219439.9	protein_coding		3420		chr16	TogoVar
HSDL1_chr16_84117141_84150177	84148596	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00558.hp1 others(46): Show HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00673.hp2 HG01106.hp2 HG01123.hp1 HG01358.hp2 HG01884.hp2 HG02015.hp2 HG02027.hp1 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02258.hp2 HG02622.hp1 HG02809.hp2 HG02818.hp1 HG02976.hp1 HG03209.hp2 HG03688.hp2 HG03710.hp1 HG03834.hp2 HG06807.hp2 NA18947.hp1 NA18951.hp2 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18965.hp2 NA18970.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp2 NA18986.hp2 NA19007.hp2 NA19011.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19063.hp1 NA19066.hp1 NA19079.hp2 NA19082.hp1 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0006 others(1): Show a0001c0001 a0002c0002 a0002c0006 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0022 a0001c0001t0033 a0001c0001t0035 a0001c0001t0042 a0002c0002t0003 a0002c0002t0012 a0002c0006t0003 a0003c0003t0020	a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0030 others(44): Show a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0072 a0001c0001t0001g0082 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0111 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0133 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0002g0024 a0001c0001t0002g0289 a0001c0001t0002g0323 a0001c0001t0007g0004 a0001c0001t0022g0074 a0001c0001t0033g0125 a0001c0001t0035g0183 a0001c0001t0042g0121 a0002c0002t0003g0035 a0002c0002t0003g0036 a0002c0002t0003g0075 a0002c0002t0003g0175 a0002c0002t0003g0176 a0002c0002t0003g0182 a0002c0002t0003g0185 a0002c0002t0003g0186 a0002c0002t0003g0192 a0002c0002t0003g0213 a0002c0002t0003g0229 a0002c0002t0003g0276 a0002c0002t0003g0283 a0002c0002t0012g0021 a0002c0002t0012g0214 a0002c0006t0003g0212 a0003c0003t0020g0187 a0003c0003t0020g0189	49	127	0.3858	25	c.-35 others(36): Show c.-3586_-3585insAAAAAAAAAAAAAAAAAAAAAAAAA	HSDL1	ENSG00000103160.12	transcript	ENST00000219439.9	protein_coding		3420		chr16	TogoVar
HSF2_chr6_122394652_122438119	122421439	G G	GTAAGTGG others(18): Show GTAAGTGGATGAAGATTTTTATATTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp2 HG01071.hp2 others(21): Show HG00735.hp1 HG00738.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01167.hp2 HG01169.hp2 HG01358.hp1 HG01981.hp2 HG02572.hp1 HG02647.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG03139.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG06807.hp1 NA18906.hp1 NA20129.hp1 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0032 a0001c0001t0001g0033 others(15): Show a0001c0001t0001g0019 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0134 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0171 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182	24	384	0.0625	25	c.682 others(40): Show c.682-709_682-685dupAAGTGGATGAAGATTTTTATATTTT	HSF2	ENSG00000025156.13	transcript	ENST00000368455.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar

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