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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
HOOK1_chr1_59809949_59881322	59855948	ATATATAT others(11): Show ATATATATATATAAATTAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18963.hp1 NA19003.hp2 HG03130.hp2 NA18963.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0022 a0001c0001t0057 a0001c0001t0008 a0001c0001t0022 a0001c0001t0057	a0001c0001t0008g0130 a0001c0001t0022g0126 a0001c0001t0057g0173 a0001c0001t0008g0130 a0001c0001t0022g0126 a0001c0001t0057g0173	3	252	0.0119	-18	c.124 others(37): Show c.1243-2467_1243-2450delAATTATTATATATATATA		HOOK1	ENSG00000134709.13	transcript	ENST00000371208.5	protein_coding	12/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
HOOK3_chr8_42891978_43035535	42896748	AGCGGCGG others(11): Show AGCGGCGGCGGCGGCGGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	162	0.0062	-18	c.-38 others(27): Show c.-383_-366delGCGGCGGCGGCGGCGGCG		HOOK3	ENSG00000168172.9	transcript	ENST00000307602.9	protein_coding					229		chr8	TogoVar
HOOK3_chr8_42891978_43035535	42912661	CCTCCTTG others(11): Show CCTCCTTGCCCACCACACA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00438.hp2 others(141): Show HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18957.hp2 NA18973.hp1 NA18973.hp2 NA19000.hp1 NA19000.hp2 NA19043.hp2 NA19066.hp1 NA19066.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(72): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0053 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0002t0007 a0002c0004t0034 a0003c0003t0055	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0045 others(141): Show a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0151 a0001c0001t0002g0053 a0001c0001t0002g0066 a0001c0001t0002g0073 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0098 a0001c0001t0002g0103 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0150 a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0008 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0040 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0060 a0001c0001t0004g0116 a0001c0001t0004g0119 a0001c0001t0004g0123 a0001c0001t0005g0033 a0001c0001t0005g0038 a0001c0001t0005g0117 a0001c0001t0005g0124 a0001c0001t0005g0148 a0001c0001t0006g0032 a0001c0001t0006g0114 a0001c0001t0006g0120 a0001c0001t0006g0129 a0001c0001t0006g0140 a0001c0001t0008g0111 a0001c0001t0008g0112 a0001c0001t0009g0077 a0001c0001t0009g0099 a0001c0001t0010g0144 a0001c0001t0010g0145 a0001c0001t0010g0146 a0001c0001t0011g0152 a0001c0001t0011g0154 a0001c0001t0011g0155 a0001c0001t0012g0122 a0001c0001t0013g0134 a0001c0001t0014g0042 a0001c0001t0014g0115 a0001c0001t0015g0090 a0001c0001t0015g0128 a0001c0001t0016g0039 a0001c0001t0016g0127 a0001c0001t0017g0030 a0001c0001t0017g0067 a0001c0001t0018g0102 a0001c0001t0018g0113 a0001c0001t0019g0139 a0001c0001t0020g0005 a0001c0001t0020g0009 a0001c0001t0021g0017 a0001c0001t0021g0018 a0001c0001t0022g0157 a0001c0001t0022g0158 a0001c0001t0023g0050 a0001c0001t0024g0104 a0001c0001t0025g0101 a0001c0001t0026g0138 a0001c0001t0027g0029 a0001c0001t0028g0132 a0001c0001t0029g0147 a0001c0001t0030g0095 a0001c0001t0031g0052 a0001c0001t0032g0037 a0001c0001t0033g0046 a0001c0001t0035g0026 a0001c0001t0036g0044 a0001c0001t0037g0041 a0001c0001t0038g0143 a0001c0001t0039g0001 a0001c0001t0041g0089 a0001c0001t0042g0062 a0001c0001t0044g0002 a0001c0001t0045g0125 a0001c0001t0046g0107 a0001c0001t0047g0108 a0001c0001t0048g0058 a0001c0001t0049g0087 a0001c0001t0050g0082 a0001c0001t0051g0086 a0001c0001t0053g0056 a0001c0001t0054g0094 a0001c0001t0056g0100 a0001c0001t0057g0078 a0001c0001t0058g0106 a0001c0001t0059g0057 a0001c0001t0060g0059 a0001c0001t0061g0054 a0001c0001t0062g0121 a0001c0001t0063g0055 a0001c0001t0064g0007 a0001c0001t0065g0023 a0001c0001t0066g0004 a0001c0001t0067g0016 a0001c0001t0068g0025 a0001c0001t0069g0024 a0001c0001t0070g0015 a0001c0001t0072g0161 a0001c0001t0073g0156 a0001c0001t0074g0160 a0001c0001t0075g0159 a0001c0001t0076g0153 a0001c0001t0077g0142 a0001c0001t0078g0149 a0001c0001t0079g0162 a0001c0002t0007g0019 a0001c0002t0007g0020 a0001c0002t0007g0021 a0001c0002t0007g0022 a0002c0004t0034g0118 a0003c0003t0055g0043	144	162	0.8889	-18	c.143 others(35): Show c.143+6424_143+6441delCCTTGCCCACCACACACT		HOOK3	ENSG00000168172.9	transcript	ENST00000307602.9	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr8	TogoVar
HOOK3_chr8_42891978_43035535	42990325	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	162	0.0062	-18	c.153 others(37): Show c.1532+3550_1532+3567delTTTTTTTTTTTTTTTTTT		HOOK3	ENSG00000168172.9	transcript	ENST00000307602.9	protein_coding	15/21					INFO_REALIGN_3_PRIME	chr8	TogoVar
HOPX_chr4_56642998_56686296	56651871	AGAGTGTG others(11): Show AGAGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA20300.hp2 HG01884.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0218 a0001c0001t0001g0219	2	376	0.0053	-18	c.199 others(35): Show c.199-3092_199-3075delACACACACACACACACTC		HOPX	ENSG00000171476.23	transcript	ENST00000420433.6	protein_coding	3/3						chr4	TogoVar
HOPX_chr4_56642998_56686296	56669660	AAATAATA others(11): Show AAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA18975.hp1 HG02976.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0136 a0001c0001t0001g0044 a0001c0001t0001g0136	2	376	0.0053	-18	c.-84 others(37): Show c.-84+11577_-84+11594delATTATTATTATTATTATT		HOPX	ENSG00000171476.23	transcript	ENST00000420433.6	protein_coding	1/3						chr4	TogoVar
HORMAD2_chr22_30075464_30182075	30129217	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	350	0.0029	-18	c.819 others(35): Show c.819+7025_819+7042delAAAAAAAAAAAAAAAAAA		HORMAD2	ENSG00000176635.18	transcript	ENST00000336726.11	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr22	TogoVar
HORMAD2_chr22_30075464_30182075	30129239	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00642.hp1 HG01070.hp1 others(26): Show HG00423.hp1 HG00642.hp1 HG01070.hp1 HG01099.hp1 HG01192.hp1 HG01934.hp2 HG01978.hp2 HG01981.hp2 HG02040.hp1 HG02080.hp2 HG02132.hp2 HG02622.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG02896.hp2 HG02897.hp2 HG03041.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18953.hp2 NA18956.hp1 NA18971.hp1 NA18973.hp2 NA19005.hp1 NA19012.hp2 NA19056.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0123 a0001c0001t0001g0124 others(26): Show a0001c0001t0001g0066 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151	29	350	0.0829	-18	c.819 others(35): Show c.819+7027_819+7044delAAAAAAAAAAAAAAAAGA		HORMAD2	ENSG00000176635.18	transcript	ENST00000336726.11	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr22	TogoVar
HOXA13_chr7_27189364_27205091	27199700	TGCAGCGG others(11): Show TGCAGCGGCAGCCGCGGCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0026 a0005c0006t0001g0026	1	416	0.0024	-18	c.360 others(25): Show c.360_377delTGCCGCGGCTGCCGCTGC	p.Ala others(13): Show p.Ala121_Ala126del	HOXA13	ENSG00000106031.9	transcript	ENST00000649031.1	protein_coding	1/2	391/5015	360/1167	120/388			chr7	TogoVar
HOXA3_chr7_27102010_27157583	27114817	ATATATAT others(11): Show ATATATATATAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02976.hp2 HG03130.hp1 HG02922.hp1 HG02976.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0014 a0001c0001t0019g0214 a0001c0001t0019g0014 a0001c0001t0019g0214	3	326	0.0092	-18	c.-12 others(37): Show c.-120-4075_-120-4058delATATATATTATATATATA		HOXA3	ENSG00000105997.23	transcript	ENST00000612286.5	protein_coding	4/5						chr7	TogoVar
HOXA3_chr7_27102010_27157583	27121213	CTGTGTGC others(11): Show CTGTGTGCGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	326	0.0031	-18	c.-12 others(37): Show c.-121+1328_-121+1345delCACACACACACGCACACA		HOXA3	ENSG00000105997.23	transcript	ENST00000612286.5	protein_coding	4/5						chr7	TogoVar
HOXB1_chr17_48523526_48536011	48528183	AAAAAAGA others(11): Show AAAAAAGAAAAAGAAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	426	0.0024	-18	c.13 others(29): Show c.1346_*1363delCTTTTTCTTTTTCTTTTT		HOXB1	ENSG00000120094.9	transcript	ENST00000239174.7	protein_coding					342		chr17	TogoVar
HOXC8_chr12_54003985_54017769	54008826	ATCTCTCT others(11): Show ATCTCTCTCTCTCTCTCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG02280.hp1 HG01123.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0017 a0001c0001t0014 a0001c0001t0017	a0001c0001t0014g0001 a0001c0001t0017g0001 a0001c0001t0014g0001 a0001c0001t0017g0001	2	306	0.0065	-18	c.-45 others(27): Show c.-458_-441delTCTCTCTCTCTCTCTCTC		HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding					158		chr12	TogoVar
HOXD8_chr2_176124705_176137695	176130550	CCGCACGC others(11): Show CCGCACGCGCCCCCGCAGG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02622.hp2 HG02886.hp1 HG03041.hp1 others(1): Show HG02622.hp2 HG02886.hp1 HG03041.hp1 NA19030.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0016 a0004c0006t0001 a0004c0006t0016	a0004c0006t0001g0001 a0004c0006t0016g0001 a0004c0006t0001g0001 a0004c0006t0016g0001	4	400	0.0100	-18	c.194 others(25): Show c.194_211delCCCCGCAGGCGCACGCGC	p.Pro others(11): Show p.Pro65_Ala70del	HOXD8	ENSG00000175879.9	transcript	ENST00000313173.6	protein_coding	1/2	856/2618	194/873	65/290		INFO_REALIGN_3_PRIME	chr2	TogoVar
HP1BP3_chr1_20735266_20792307	20750322	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01069.hp1 HG01071.hp1 others(7): Show HG00673.hp2 HG01069.hp1 HG01071.hp1 HG01496.hp1 HG01891.hp2 HG02280.hp1 HG03225.hp2 HG03669.hp2 NA18906.hp2 NA19009.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0003c0006t0001	a0001c0001t0001g0252 a0001c0001t0001g0282 a0001c0001t0001g0286 others(6): Show a0001c0001t0001g0252 a0001c0001t0001g0282 a0001c0001t0001g0286 a0001c0001t0001g0330 a0001c0001t0002g0198 a0001c0001t0005g0003 a0001c0001t0005g0055 a0001c0001t0005g0059 a0003c0006t0001g0313	10	378	0.0265	-18	c.982 others(33): Show c.982-458_982-441delGTGTGTGTGTGTGTGTGT		HP1BP3	ENSG00000127483.19	transcript	ENST00000438032.6	protein_coding	9/12						chr1	TogoVar
HPCAL1_chr2_10297904_10432604	10359896	TGCCCGCC others(11): Show TGCCCGCCGGGTCCACAGC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA19030.hp2 NA19043.hp2 HG02809.hp1 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0001 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0235 a0001c0001t0005g0273 a0001c0001t0007g0293 a0001c0001t0001g0235 a0001c0001t0005g0273 a0001c0001t0007g0293	3	314	0.0096	-18	c.-11 others(39): Show c.-110-36898_-110-36881delGCCGGGTCCACAGCGCCC		HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10399557	TACCGCCA others(11): Show TACCGCCACCGCCACCACC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(130): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01169.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02818.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03704.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18943.hp1 NA18947.hp1 NA18947.hp2 NA18951.hp2 NA18953.hp2 NA18955.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp2 NA18983.hp1 NA18990.hp2 NA18994.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19077.hp1 NA19083.hp1 NA19083.hp2 NA19090.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0002t0002 a0001c0003t0001 a0001c0004t0004 a0001c0005t0004	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 others(130): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0098 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0137 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0181 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0231 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0266 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0288 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0031 a0001c0001t0002g0044 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0090 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0104 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0118 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0153 a0001c0001t0002g0157 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0183 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0201 a0001c0001t0002g0210 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0282 a0001c0001t0002g0290 a0001c0001t0003g0019 a0001c0001t0003g0067 a0001c0001t0003g0115 a0001c0001t0003g0119 a0001c0001t0003g0134 a0001c0001t0003g0156 a0001c0001t0003g0187 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0207 a0001c0001t0003g0259 a0001c0001t0004g0032 a0001c0001t0004g0055 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0074 a0001c0001t0004g0077 a0001c0001t0004g0079 a0001c0001t0004g0082 a0001c0001t0004g0112 a0001c0001t0004g0130 a0001c0001t0004g0144 a0001c0001t0004g0165 a0001c0001t0004g0191 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0240 a0001c0001t0004g0249 a0001c0001t0004g0253 a0001c0001t0004g0264 a0001c0001t0004g0305 a0001c0001t0007g0293 a0001c0001t0008g0022 a0001c0001t0008g0023 a0001c0001t0008g0026 a0001c0001t0010g0076 a0001c0001t0010g0224 a0001c0001t0012g0151 a0001c0001t0015g0184 a0001c0001t0019g0234 a0001c0001t0020g0143 a0001c0001t0021g0147 a0001c0002t0002g0252 a0001c0003t0001g0274 a0001c0004t0004g0152 a0001c0005t0004g0093	133	314	0.4236	-18	c.-25 others(35): Show c.-25+2653_-25+2670delACCACCGCCACCGCCACC		HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10403452	TTTTGTGT others(11): Show TTTTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02818.hp1 HG03195.hp2 others(1): Show HG01891.hp2 HG02818.hp1 HG03195.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0235 a0001c0001t0001g0247 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0235 a0001c0001t0001g0247 a0001c0001t0002g0155	4	314	0.0127	-18	c.-25 others(35): Show c.-25+6534_-25+6551delTTGTGTGTGTGTGTGTGT		HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
HPGDS_chr4_94293535_94347836	94340305	CTTTCTCT others(11): Show CTTTCTCTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03209.hp2 HG06807.hp2 HG01243.hp2 HG03209.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0053 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0053	3	312	0.0096	-18	c.-10 others(35): Show c.-10+2472_-10+2489delAAAAAAAAAAAAGAGAAA		HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5						chr4	TogoVar
HPS3_chr3_149124638_149178732	149172318	TCACACAC others(11): Show TCACACACACACACACACA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0040 a0001c0005t0040	a0001c0005t0040g0288 a0001c0005t0040g0288	1	392	0.0026	-18	c.11 others(27): Show c.117_*134delCACACACACACACACACA		HPS3	ENSG00000163755.9	transcript	ENST00000296051.7	protein_coding	17/17				117	INFO_REALIGN_3_PRIME	chr3	TogoVar
HPS4_chr22_26445882_26488783	26451994	GCGCGCGC others(11): Show GCGCGCGCGCGCACACACA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp2 NA18990.hp1 NA18999.hp1 HG00423.hp2 NA18990.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0245 a0001c0001t0023g0259 a0001c0001t0023g0260 a0001c0001t0023g0245 a0001c0001t0023g0259 a0001c0001t0023g0260	3	404	0.0074	-18	c.12 others(29): Show c.1221_*1238delTGTGTGTGCGCGCGCGCG		HPS4	ENSG00000100099.22	transcript	ENST00000398145.7	protein_coding	14/14				1221		chr22	TogoVar
HPS4_chr22_26445882_26488783	26451996	GCGCGCGC others(11): Show GCGCGCGCGCACACACACA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02257.hp1 others(8): Show HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02647.hp2 HG02717.hp1 HG02970.hp2 HG03130.hp2 HG03209.hp1 HG03471.hp2 HG03516.hp2 NA19030.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0003c0015 a0005c0006 a0003c0003 a0003c0015 a0005c0006	a0003c0003t0011 a0003c0015t0011 a0005c0006t0011 a0003c0003t0011 a0003c0015t0011 a0005c0006t0011	a0003c0003t0011g0023 a0003c0003t0011g0024 a0003c0015t0011g0069 others(2): Show a0003c0003t0011g0023 a0003c0003t0011g0024 a0003c0015t0011g0069 a0005c0006t0011g0006 a0005c0006t0011g0067	11	404	0.0272	-18	c.12 others(29): Show c.1219_*1236delTGTGTGTGTGCGCGCGCG		HPS4	ENSG00000100099.22	transcript	ENST00000398145.7	protein_coding	14/14				1219		chr22	TogoVar
HPS4_chr22_26445882_26488783	26451998	GCGCGCGC others(11): Show GCGCGCGCACACACACACA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0049 a0003c0003t0049	a0003c0003t0049g0068 a0003c0003t0049g0068	1	404	0.0025	-18	c.12 others(29): Show c.1217_*1234delTGTGTGTGTGTGCGCGCG		HPS4	ENSG00000100099.22	transcript	ENST00000398145.7	protein_coding	14/14				1217		chr22	TogoVar
HPS4_chr22_26445882_26488783	26452004	GCACACAC others(11): Show GCACACACACACACACACA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0045 a0003c0003t0045	a0003c0003t0045g0274 a0003c0003t0045g0274	1	404	0.0025	-18	c.12 others(29): Show c.1211_*1228delTGTGTGTGTGTGTGTGTG		HPS4	ENSG00000100099.22	transcript	ENST00000398145.7	protein_coding	14/14				1211		chr22	TogoVar
HPS5_chr11_18273676_18327140	18294369	CCTTGACT others(11): Show CCTTGACTCATCAAATAAT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0315 a0001c0001t0003g0315	1	372	0.0027	-18	c.178 others(35): Show c.1784+633_1784+650delATTATTTGATGAGTCAAG		HPS5	ENSG00000110756.18	transcript	ENST00000349215.8	protein_coding	14/22						chr11	TogoVar
HPS5_chr11_18273676_18327140	18327018	TGGGCGTG others(11): Show TGGGCGTGGTGGCAGATGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0277 a0001c0001t0002g0277	1	372	0.0027	-18	c.-51 others(29): Show c.-5140_-5123delGCATCTGCCACCACGCCC		HPS5	ENSG00000110756.18	transcript	ENST00000349215.8	protein_coding					4879		chr11	TogoVar
HPSE2_chr10_98452077_99240852	98852151	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01255.hp1 HG02965.hp1 others(5): Show HG01109.hp1 HG01255.hp1 HG02965.hp1 HG03098.hp1 HG03471.hp1 HG03540.hp2 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(3): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0026 a0001c0001t0030 a0001c0001t0031	a0001c0001t0003g0077 a0001c0001t0006g0104 a0001c0001t0006g0106 others(5): Show a0001c0001t0003g0077 a0001c0001t0006g0104 a0001c0001t0006g0106 a0001c0001t0006g0107 a0001c0001t0008g0084 a0001c0001t0026g0105 a0001c0001t0030g0108 a0001c0001t0031g0109	8	142	0.0563	-18	c.611 others(39): Show c.611-108113_611-108096delTATACACACACACACACA		HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11						chr10	TogoVar
HPSE2_chr10_98452077_99240852	99164227	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp1 HG02451.hp2 others(6): Show HG00639.hp1 HG01081.hp1 HG02451.hp2 HG02572.hp1 HG03130.hp1 HG03471.hp1 HG03579.hp1 NA19043.hp1 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0008 a0001c0001t0014 a0001c0001t0028 others(5): Show a0001c0001t0008 a0001c0001t0014 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0002c0002t0002 a0002c0002t0011 a0003c0003t0001	a0001c0001t0008g0030 a0001c0001t0014g0102 a0001c0001t0028g0097 others(6): Show a0001c0001t0008g0030 a0001c0001t0014g0102 a0001c0001t0028g0097 a0001c0001t0029g0083 a0001c0001t0031g0109 a0002c0002t0002g0029 a0002c0002t0011g0012 a0002c0002t0011g0081 a0003c0003t0001g0073	9	142	0.0634	-18	c.449 others(37): Show c.449-19846_449-19829delTATATATATATATATATA		HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	2/11						chr10	TogoVar
HPSE2_chr10_98452077_99240852	99169504	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01255.hp1 HG02258.hp2 others(6): Show HG01109.hp1 HG01255.hp1 HG02258.hp2 HG02886.hp1 HG03098.hp1 HG03471.hp1 HG03540.hp2 NA18906.hp2 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0006 a0001c0001t0014 a0001c0001t0026 others(3): Show a0001c0001t0006 a0001c0001t0014 a0001c0001t0026 a0001c0001t0030 a0001c0001t0031 a0003c0003t0003	a0001c0001t0006g0104 a0001c0001t0006g0106 a0001c0001t0006g0107 others(6): Show a0001c0001t0006g0104 a0001c0001t0006g0106 a0001c0001t0006g0107 a0001c0001t0014g0102 a0001c0001t0014g0136 a0001c0001t0026g0105 a0001c0001t0030g0108 a0001c0001t0031g0109 a0003c0003t0003g0111	9	142	0.0634	-18	c.449 others(37): Show c.449-25123_449-25106delTTTTTTTTTTTTTTTTTT		HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	2/11						chr10	TogoVar
HPSE2_chr10_98452077_99240852	99186104	CCACACAC others(11): Show CCACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03579.hp2 HG02145.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0027 a0001c0001t0014 a0001c0001t0027	a0001c0001t0014g0001 a0001c0001t0027g0003 a0001c0001t0014g0001 a0001c0001t0027g0003	2	142	0.0141	-18	c.449 others(37): Show c.449-41723_449-41706delTGTGTGTGTGTGTGTGTG		HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	2/11						chr10	TogoVar
HPSE2_chr10_98452077_99240852	99230822	AAGAAAAA others(11): Show AAGAAAAACCATTAATATC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	142	0.0070	-18	c.448 others(35): Show c.448+1508_448+1525delGATATTAATGGTTTTTCT		HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	2/11						chr10	TogoVar
HPSE_chr4_83287461_83339848	83325130	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG01070.hp2 others(28): Show HG00099.hp1 HG00639.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01175.hp2 HG01243.hp1 HG01516.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG02004.hp1 HG02083.hp1 HG02148.hp2 HG02273.hp1 HG02293.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG03017.hp1 HG03516.hp2 HG03688.hp2 HG03834.hp2 HG04115.hp2 HG04184.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0002c0005 others(2): Show a0001c0001 a0002c0002 a0002c0005 a0003c0004 a0006c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0019 a0002c0002t0001 a0002c0002t0002 a0002c0002t0022 a0002c0002t0023 a0002c0005t0005 a0003c0004t0007 a0006c0010t0002	a0001c0001t0001g0055 a0001c0001t0001g0066 a0001c0001t0001g0235 others(27): Show a0001c0001t0001g0055 a0001c0001t0001g0066 a0001c0001t0001g0235 a0001c0001t0001g0307 a0001c0001t0003g0002 a0001c0001t0004g0241 a0001c0001t0007g0314 a0001c0001t0019g0256 a0002c0002t0001g0056 a0002c0002t0001g0059 a0002c0002t0001g0062 a0002c0002t0001g0065 a0002c0002t0001g0082 a0002c0002t0001g0240 a0002c0002t0001g0303 a0002c0002t0001g0308 a0002c0002t0001g0310 a0002c0002t0001g0312 a0002c0002t0002g0057 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0064 a0002c0002t0002g0067 a0002c0002t0002g0075 a0002c0002t0002g0081 a0002c0002t0022g0309 a0002c0002t0023g0313 a0002c0005t0005g0311 a0003c0004t0007g0058 a0006c0010t0002g0063	31	320	0.0969	-18	c.228 others(35): Show c.228-2784_228-2767delACACACACACACACACAC		HPSE	ENSG00000173083.16	transcript	ENST00000311412.10	protein_coding	1/11						chr4	TogoVar
HP_chr16_72049505_72066055	72061702	GCAATAAC others(11): Show GCAATAACCTTCTGGTATT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	425	0.0024	-18	c.81 others(27): Show c.813_*830delCAATAACCTTCTGGTATT		HP	ENSG00000257017.10	transcript	ENST00000355906.10	protein_coding					648		chr16	TogoVar
HRG_chr3_186661014_186683234	186673048	AGCACTTA others(11): Show AGCACTTAGTACCTGCCAG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02965.hp1 NA21309.hp1 HG02809.hp1 HG02965.hp1 NA21309.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0053 a0012c0013t0001g0054 a0012c0013t0001g0056 a0012c0013t0001g0053 a0012c0013t0001g0054 a0012c0013t0001g0056	3	472	0.0064	-18	c.639 others(33): Show c.639+187_639+204delTAGTACCTGCCAGGCACT		HRG	ENSG00000113905.5	transcript	ENST00000232003.5	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
HRH3_chr20_62209960_62225278	62213217	GGGGAGGG others(11): Show GGGGAGGGAGAGCGGGGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	368	0.0027	-18	c.27 others(29): Show c.2771_*2788delATCCCCGCTCTCCCTCCC		HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding					1742		chr20	TogoVar
HRH3_chr20_62209960_62225278	62213259	GGGGTAAG others(11): Show GGGGTAAGGAGAGCGGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	368	0.0027	-18	c.27 others(29): Show c.2729_*2746delTCCCCGCTCTCCTTACCC		HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding					1700		chr20	TogoVar
HRH3_chr20_62209960_62225278	62213501	GGGGTAAG others(11): Show GGGGTAAGGAGAGCGGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00438.hp2 others(34): Show HG00099.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG01106.hp2 HG01496.hp1 HG01975.hp1 HG01993.hp1 HG02015.hp2 HG02132.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG03098.hp1 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03704.hp1 HG04184.hp2 HG06807.hp1 NA18966.hp1 NA18972.hp2 NA19000.hp1 NA19007.hp1 NA19054.hp1 NA19057.hp1 NA19058.hp2 NA19081.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0011t0003	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0020 a0001c0002t0001g0024 a0001c0002t0001g0049 a0001c0003t0001g0007 a0001c0003t0003g0037 a0001c0011t0003g0052	37	368	0.1005	-18	c.24 others(29): Show c.2487_*2504delTCCCCGCTCTCCTTACCC		HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding					1458		chr20	TogoVar
HRK_chr12_116851144_116886441	116858574	TCACACAC others(11): Show TCACACACACACACACACA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01106.hp1 NA19003.hp1 HG01106.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0105 a0001c0001t0081 a0001c0001t0105	a0001c0001t0081g0245 a0001c0001t0105g0054 a0001c0001t0081g0245 a0001c0001t0105g0054	2	366	0.0055	-18	c.29 others(29): Show c.2931_*2948delTGTGTGTGTGTGTGTGTG		HRK	ENSG00000135116.9	transcript	ENST00000257572.5	protein_coding	2/2				22440		chr12	TogoVar
HS2ST1_chr1_86909635_87114982	87018132	CCACACAC others(11): Show CCACACACACACACACACA	C C	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	-18	c.125 others(37): Show c.125-54787_125-54770delCACACACACACACACACA		HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
HS2ST1_chr1_86909635_87114982	87101149	GTTTTTTG others(11): Show GTTTTTTGTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0118 a0001c0001t0029g0118	1	154	0.0065	-18	c.687 others(35): Show c.687-2276_687-2259delGTTTTTTTTTTTTTTTTT		HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
HS3ST1_chr4_11388150_11433894	11428369	CGCGAAGC others(11): Show CGCGAAGCGGCCGGCAGGA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18991.hp1 NA18997.hp2 HG00621.hp2 NA18991.hp1 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0002 a0001c0001t0002 a0001c0006t0002	a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0006t0002g0070 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0006t0002g0070	3	440	0.0068	-18	c.-10 others(35): Show c.-109+312_-109+329delTCCTGCCGGCCGCTTCGC		HS3ST1	ENSG00000002587.10	transcript	ENST00000002596.6	protein_coding	1/1						chr4	TogoVar
HS3ST3A1_chr17_13489032_13606929	13526472	TTTTATAT others(11): Show TTTTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03516.hp2 NA18522.hp1 HG03471.hp1 HG03516.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0072 a0001c0001t0073 a0001c0001t0060 a0001c0001t0072 a0001c0001t0073	a0001c0001t0060g0191 a0001c0001t0072g0303 a0001c0001t0073g0322 a0001c0001t0060g0191 a0001c0001t0072g0303 a0001c0001t0073g0322	3	338	0.0089	-18	c.600 others(37): Show c.600-29672_600-29655delTATATATATATATATAAA		HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1						chr17	TogoVar
HS3ST3A1_chr17_13489032_13606929	13526474	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03139.hp1 NA19043.hp2 HG02970.hp1 HG03139.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0048 a0001c0001t0077 a0001c0009t0036 a0001c0001t0048 a0001c0001t0077 a0001c0009t0036	a0001c0001t0048g0059 a0001c0001t0077g0317 a0001c0009t0036g0332 a0001c0001t0048g0059 a0001c0001t0077g0317 a0001c0009t0036g0332	3	338	0.0089	-18	c.600 others(37): Show c.600-29674_600-29657delTATATATATATATATATA		HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1						chr17	TogoVar
HS3ST4_chr16_25686959_26142685	25717510	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03225.hp1 HG02109.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0009t0024 a0001c0001t0002 a0001c0009t0024	a0001c0001t0002g0149 a0001c0009t0024g0139 a0001c0001t0002g0149 a0001c0009t0024g0139	2	164	0.0122	-18	c.734 others(37): Show c.734+24386_734+24403delGTGTGTGTGTGTGTGTGT		HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	25820010	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	164	0.0061	-18	c.734 others(39): Show c.734+126881_734+126898delAAAAAAAAAAAAAAAAAA		HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	25873522	CTGTCTAT others(11): Show CTGTCTATCTATCTATCTT	C C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp2 HG03942.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0005 a0001c0001t0004g0146 a0001c0001t0001g0005 a0001c0001t0004g0146	2	164	0.0122	-18	c.734 others(39): Show c.734+180373_734+180390delGTCTATCTATCTATCTTT		HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	25939312	TATTATTA others(11): Show TATTATTATTATTATTATC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01081.hp2 HG01106.hp1 others(7): Show HG00140.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp2 HG03471.hp2 HG03490.hp1 NA20905.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0008 a0001c0001 a0003c0003 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0037 a0003c0003t0004 a0004c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0060 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0060 a0001c0001t0001g0113 a0001c0001t0002g0022 a0001c0001t0003g0130 a0001c0001t0004g0051 a0001c0001t0037g0124 a0003c0003t0004g0137 a0004c0008t0001g0074	10	164	0.0610	-18	c.735 others(39): Show c.735-196282_735-196265delCATTATTATTATTATTAT		HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	25993949	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03239.hp1 HG02451.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0031 a0001c0001t0004g0051 a0001c0001t0001g0031 a0001c0001t0004g0051	2	164	0.0122	-18	c.735 others(39): Show c.735-141621_735-141604delTGTGTGTGTGTGTGTGTG		HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST5_chr6_114050596_114348023	114161521	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02895.hp1 HG02897.hp2 others(3): Show HG01243.hp1 HG02895.hp1 HG02897.hp2 HG03098.hp1 HG03516.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0043	a0001c0001t0002g0122 a0001c0001t0004g0183 a0001c0001t0011g0059 others(3): Show a0001c0001t0002g0122 a0001c0001t0004g0183 a0001c0001t0011g0059 a0001c0001t0012g0069 a0001c0001t0012g0070 a0001c0001t0043g0205	6	206	0.0291	-18	c.-33 others(35): Show c.-33+6812_-33+6829delTATATATATATATATATA		HS3ST5	ENSG00000249853.9	transcript	ENST00000312719.10	protein_coding	3/4						chr6	TogoVar
HS6ST2_chrX_132621015_132963629	132787184	TATACATA others(11): Show TATACATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0198 a0001c0009t0002g0198	1	201	0.0050	-18	c.948 others(37): Show c.948-78708_948-78691delGTGTATATATATATGTAT		HS6ST2	ENSG00000171004.19	transcript	ENST00000370833.7	protein_coding	2/4						chrX	TogoVar

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