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
HS3ST1_chr4_11388150_11433894	11429643	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01891.hp1 HG01978.hp2 others(14): Show HG00438.hp1 HG01891.hp1 HG01978.hp2 HG02083.hp1 HG02083.hp2 HG02523.hp1 NA18953.hp1 NA18957.hp2 NA18975.hp1 NA18984.hp1 NA18985.hp2 NA18987.hp2 NA18989.hp2 NA19082.hp1 NA19085.hp1 NA19088.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0069 a0001c0002t0004 a0001c0002t0051 a0002c0004t0003	a0001c0001t0001g0018 a0001c0001t0001g0267 a0001c0001t0001g0270 others(14): Show a0001c0001t0001g0018 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0279 a0001c0001t0005g0019 a0001c0001t0005g0269 a0001c0001t0006g0272 a0001c0001t0006g0280 a0001c0001t0009g0264 a0001c0001t0012g0290 a0001c0001t0014g0241 a0001c0001t0069g0232 a0001c0002t0004g0220 a0001c0002t0004g0237 a0001c0002t0004g0259 a0001c0002t0051g0282 a0002c0004t0003g0233	17	440	0.0386	21	c.-10 others(32): Show c.-1054_-1053insAAAAAAAAAAAAAAAAAAAAA		HS3ST1	ENSG00000002587.10	transcript	ENST00000002596.6	protein_coding					750		chr4	TogoVar
HS3ST3A1_chr17_13489032_13606929	13560289	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 NA18942.hp2 HG01169.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0001 a0001c0001t0008 a0001c0002t0001	a0001c0001t0008g0042 a0001c0002t0001g0121 a0001c0001t0008g0042 a0001c0002t0001g0121	2	338	0.0059	21	c.599 others(40): Show c.599+40221_599+40241dupTTTTTTTTTTTTTTTTTTTTT		HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1						chr17	TogoVar
HS3ST3A1_chr17_13489032_13606929	13585186	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03834.hp2 NA18939.hp1 others(6): Show HG02738.hp1 HG03834.hp2 NA18939.hp1 NA18942.hp1 NA18948.hp2 NA18955.hp1 NA18955.hp2 NA19079.hp1 NA19089.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0003 a0002c0004 others(1): Show a0001c0002 a0002c0003 a0002c0004 a0003c0005	a0001c0002t0001 a0002c0003t0007 a0002c0004t0012 others(1): Show a0001c0002t0001 a0002c0003t0007 a0002c0004t0012 a0003c0005t0001	a0001c0002t0001g0091 a0001c0002t0001g0219 a0001c0002t0001g0220 others(6): Show a0001c0002t0001g0091 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0236 a0002c0003t0007g0293 a0002c0004t0012g0275 a0003c0005t0001g0218	9	338	0.0266	21	c.599 others(40): Show c.599+15324_599+15344dupAAAAAAAAAAAAAAAAAAAAA		HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1						chr17	TogoVar
HS3ST4_chr16_25686959_26142685	25857948	C C	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0061 a0002c0002t0003g0061	1	164	0.0061	21	c.734 others(42): Show c.734+164800_734+164820dupTCTTTCTTTCTTTCTTTCTTT		HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	25864349	T T	TTTAACTT others(14): Show TTTAACTTTTTTAATAATAATG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00609.hp2 others(28): Show HG00438.hp1 HG00438.hp2 HG00609.hp2 HG00642.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01261.hp2 HG02055.hp1 HG02056.hp1 HG02109.hp1 HG02109.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG03130.hp1 HG03471.hp1 HG03540.hp1 HG03942.hp2 HG06807.hp1 NA18747.hp1 NA18966.hp2 NA18968.hp1 NA18993.hp1 NA19005.hp1 NA19012.hp2 NA19056.hp1 NA19057.hp1 NA19088.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0006c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0034 a0001c0001t0040 a0002c0002t0002 a0002c0002t0003 a0003c0003t0008 a0006c0005t0003	a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0032 others(28): Show a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0032 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0002g0054 a0001c0001t0002g0058 a0001c0001t0002g0073 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0149 a0001c0001t0003g0079 a0001c0001t0004g0062 a0001c0001t0004g0086 a0001c0001t0004g0094 a0001c0001t0004g0096 a0001c0001t0006g0007 a0001c0001t0006g0013 a0001c0001t0006g0028 a0001c0001t0007g0141 a0001c0001t0010g0087 a0001c0001t0011g0147 a0001c0001t0014g0119 a0001c0001t0034g0011 a0001c0001t0040g0043 a0002c0002t0002g0104 a0002c0002t0003g0061 a0003c0003t0008g0136 a0006c0005t0003g0135	31	164	0.1890	21	c.734 others(42): Show c.734+171198_734+171199insTTAACTTTTTTAATAATAATG		HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1						chr16	TogoVar
HS3ST5_chr6_114050596_114348023	114341222	G G	GAGAGAGA others(14): Show GAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0085 a0001c0001t0005g0085	1	206	0.0049	21	c.-33 others(38): Show c.-339+972_-339+973insTCTCTCTCTCTCTCTCTCTCT		HS3ST5	ENSG00000249853.9	transcript	ENST00000312719.10	protein_coding	1/4						chr6	TogoVar
HS6ST2_chrX_132621015_132963629	132794574	G G	GATGATGA others(14): Show GATGATGATGATGATGATTATT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	201	0.0050	21	c.948 others(40): Show c.948-86081_948-86080insAATAATCATCATCATCATCAT		HS6ST2	ENSG00000171004.19	transcript	ENST00000370833.7	protein_coding	2/4						chrX	TogoVar
HS6ST3_chr13_96085107_96844562	96304714	T T	TCTTTCTT others(14): Show TCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0084 a0001c0001t0009g0084	1	116	0.0086	21	c.707 others(42): Show c.707+213145_707+213146insCTTTCTTTCTTTCTTTCTTTC		HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1						chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96358282	G G	GCACAGGG others(14): Show GCACAGGGTGTTCACATGTTCT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01109.hp2 HG02145.hp1 others(7): Show HG01106.hp2 HG01109.hp2 HG02145.hp1 HG02258.hp1 HG02970.hp2 HG03130.hp1 HG03139.hp2 HG03486.hp2 NA18747.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0001t0015 a0001c0001t0019 a0001c0001t0035	a0001c0001t0001g0114 a0001c0001t0002g0031 a0001c0001t0002g0094 others(7): Show a0001c0001t0001g0114 a0001c0001t0002g0031 a0001c0001t0002g0094 a0001c0001t0004g0093 a0001c0001t0006g0020 a0001c0001t0013g0107 a0001c0001t0013g0108 a0001c0001t0015g0064 a0001c0001t0019g0014 a0001c0001t0035g0106	10	116	0.0862	21	c.707 others(42): Show c.707+266715_707+266716insCAGGGTGTTCACATGTTCTCA		HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr13	TogoVar
HSBP1L1_chr18_79959643_79975822	79969330	A A	AAAAAGAA others(14): Show AAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02683.hp2 HG02698.hp1 others(6): Show HG02015.hp1 HG02683.hp2 HG02698.hp1 HG04115.hp2 NA18944.hp1 NA18944.hp2 NA18950.hp1 NA18977.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0095 a0001c0001t0003g0100 others(1): Show a0001c0001t0003g0011 a0001c0001t0003g0095 a0001c0001t0003g0100 a0001c0001t0003g0123	9	412	0.0218	21	c.214 others(38): Show c.214-1106_214-1086dupAGAAAGAAAGAAAGAAAGAAA		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(14): Show AGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02896.hp2 HG04115.hp1 HG02155.hp2 HG02896.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0133 a0001c0001t0001g0169 a0001c0001t0006g0206 a0001c0001t0001g0133 a0001c0001t0001g0169 a0001c0001t0006g0206	3	412	0.0073	21	c.214 others(38): Show c.214-1046_214-1045insGAAAGAAAGAAAGAAAGAAAG		HSBP1L1	ENSG00000226742.4	transcript	ENST00000451882.3	protein_coding	3/3						chr18	TogoVar
HSBP1_chr16_83802978_83824737	83820760	T T	TCTCTCTC others(14): Show TCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0003 a0001c0001t0006g0003	1	468	0.0021	21	c.93 others(32): Show c.9342_*9343insCTCTCTCTCTCTCTCTCTCTC		HSBP1	ENSG00000230989.8	transcript	ENST00000433866.7	protein_coding					1024		chr16	TogoVar
HSCB_chr22_28737039_28762510	28750945	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02922.hp2 others(4): Show HG01884.hp1 HG01891.hp1 HG02922.hp2 HG03540.hp2 HG03710.hp2 NA19030.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0048 a0001c0001t0001g0182 a0001c0001t0001g0183 others(3): Show a0001c0001t0001g0048 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0189 a0001c0001t0001g0209 a0002c0003t0001g0056	7	410	0.0171	21	c.569 others(36): Show c.569-292_569-272dupTTTTTTTTTTTTTTTTTTTTT		HSCB	ENSG00000100209.11	transcript	ENST00000216027.8	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr22	TogoVar
HSD11B1_chr1_209699846_209739929	209719019	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	400	0.0025	21	c.517 others(40): Show c.517+11908_517+11909insAAAAAAAAAAAAAAAAAAAAA		HSD11B1	ENSG00000117594.10	transcript	ENST00000367027.5	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
HSD17B12_chr11_43675738_43861615	43685284	T T	TACTTTGC others(14): Show TACTTTGCTTAGCCATGCTCAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02257.hp1 HG02258.hp1 others(7): Show HG01261.hp2 HG02257.hp1 HG02258.hp1 HG02717.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG03540.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 a0001c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(7): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0003t0001g0233 a0001c0003t0003g0234 a0001c0003t0003g0235 a0001c0007t0001g0232	10	280	0.0357	21	c.160 others(38): Show c.160+4297_160+4298insACTTTGCTTAGCCATGCTCAA		HSD17B12	ENSG00000149084.13	transcript	ENST00000278353.10	protein_coding	1/10						chr11	TogoVar
HSD17B12_chr11_43675738_43861615	43685286	C C	CTTTGCTT others(14): Show CTTTGCTTAGCCATGCTCAAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(238): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18982.hp1 NA18982.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0004c0005 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0003t0001 a0001c0003t0003 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0010 a0003c0004t0001 a0004c0005t0002 a0005c0006t0012	a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 others(237): Show a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0152 a0001c0001t0001g0187 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0066 a0001c0001t0003g0093 a0001c0001t0003g0207 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0279 a0001c0001t0011g0270 a0001c0003t0001g0198 a0001c0003t0001g0199 a0001c0003t0001g0226 a0001c0003t0001g0228 a0001c0003t0001g0236 a0001c0003t0001g0237 a0001c0003t0001g0238 a0001c0003t0001g0239 a0001c0003t0001g0240 a0001c0003t0001g0241 a0001c0003t0001g0242 a0001c0003t0001g0243 a0001c0003t0001g0273 a0001c0003t0001g0274 a0001c0003t0003g0245 a0001c0003t0003g0246 a0001c0003t0003g0247 a0001c0003t0003g0248 a0001c0003t0003g0249 a0001c0003t0003g0250 a0001c0003t0003g0251 a0002c0002t0002g0001 a0002c0002t0002g0003 a0002c0002t0002g0024 a0002c0002t0002g0026 a0002c0002t0002g0039 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0101 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0202 a0002c0002t0002g0229 a0002c0002t0004g0206 a0002c0002t0004g0275 a0002c0002t0005g0208 a0002c0002t0006g0107 a0002c0002t0007g0146 a0002c0002t0008g0002 a0002c0002t0010g0158 a0003c0004t0001g0231 a0003c0004t0001g0244 a0003c0004t0001g0252 a0004c0005t0002g0010 a0004c0005t0002g0011 a0005c0006t0012g0020	241	280	0.8607	21	c.160 others(38): Show c.160+4299_160+4300insTTTGCTTAGCCATGCTCAAGA		HSD17B12	ENSG00000149084.13	transcript	ENST00000278353.10	protein_coding	1/10						chr11	TogoVar
HSD17B14_chr19_48808018_48841491	48816826	T T	TCTTTCTT others(14): Show TCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02896.hp2 HG02897.hp1 others(3): Show HG01433.hp2 HG02896.hp2 HG02897.hp1 HG03130.hp1 HG03209.hp1 NA18998.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 others(3): Show a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0244 a0001c0001t0001g0382 a0002c0002t0001g0324	6	394	0.0152	21	c.370 others(38): Show c.370-1686_370-1685insGAAAGAAAGAAAGAAAGAAAG		HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8						chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48839795	T T	TGGAACAC others(14): Show TGGAACACAGGTAAAGTCTAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	394	0.0025	21	c.-33 others(32): Show c.-3385_-3384insTTTAGACTTTACCTGTGTTCC		HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding					3305		chr19	TogoVar
HSD3B2_chr1_119410150_119428034	119423922	C C	CTTTTTCT others(14): Show CTTTTTCTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00639.hp1 others(85): Show HG00408.hp1 HG00544.hp1 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01169.hp2 HG01928.hp2 HG01993.hp2 HG02027.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02647.hp1 HG02698.hp2 HG02809.hp1 HG02965.hp1 HG02976.hp1 HG03139.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03654.hp2 HG03669.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04228.hp2 NA18939.hp1 NA18943.hp2 NA18944.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18973.hp1 NA18984.hp1 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18994.hp1 NA19001.hp1 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19054.hp1 NA19055.hp2 NA19058.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp2 NA19074.hp1 NA19077.hp2 NA19080.hp1 NA19085.hp2 NA19086.hp1 NA19091.hp2 NA19240.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0003 a0006c0006 a0001c0001 a0002c0003 a0006c0006	a0001c0001t0002 a0002c0003t0003 a0006c0006t0003 a0001c0001t0002 a0002c0003t0003 a0006c0006t0003	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0008 others(18): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0002c0003t0003g0069 a0006c0006t0003g0061	88	442	0.1991	21	c.13 others(32): Show c.1302_*1303insTTTTTCTTTTTTTTTTTTTTT		HSD3B2	ENSG00000203859.10	transcript	ENST00000369416.4	protein_coding					889		chr1	TogoVar
HSDL1_chr16_84117141_84150177	84148596	C C	CTCTCTTT others(14): Show CTCTCTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 NA18612.hp1 HG01106.hp1 NA18612.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0011 a0002c0002 a0004c0011	a0002c0002t0028 a0004c0011t0029 a0002c0002t0028 a0004c0011t0029	a0002c0002t0028g0216 a0004c0011t0029g0208 a0002c0002t0028g0216 a0004c0011t0029g0208	2	448	0.0045	21	c.-35 others(32): Show c.-3586_-3585insAAAAAAAAAAAAAAAAAGAGA		HSDL1	ENSG00000103160.12	transcript	ENST00000219439.9	protein_coding					3420		chr16	TogoVar
HSF1_chr8_144286604_144319720	144313681	G G	GCGCCGCC others(14): Show GCGCCGCCTCCCCGCCCCGCCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	330	0.0030	21	c.124 others(36): Show c.1248+66_1248+67insGCCGCCTCCCCGCCCCGCCTC		HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr8	TogoVar
HSF1_chr8_144286604_144319720	144313683	C C	CTCCCCGC others(14): Show CTCCCCGCGCCGCCTCCCCGCG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp1 HG01433.hp1 others(7): Show HG00558.hp2 HG00609.hp1 HG01433.hp1 NA18943.hp1 NA18981.hp1 NA18985.hp2 NA18990.hp1 NA19054.hp1 NA19056.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0163 others(5): Show a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0163 a0001c0001t0001g0183 a0001c0001t0001g0199 a0001c0001t0001g0217 a0001c0001t0001g0241 a0001c0001t0001g0283	10	330	0.0303	21	c.124 others(36): Show c.1248+67_1248+68insTCCCCGCGCCGCCTCCCCGCG		HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12						chr8	TogoVar
HSF1_chr8_144286604_144319720	144313736	G G	GCGCCGCC others(14): Show GCGCCGCCTCCCCGCGCCGCGC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	330	0.0030	21	c.124 others(38): Show c.1249-106_1249-105insGCCTCCCCGCGCCGCGCCGCC		HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr8	TogoVar
HSF1_chr8_144286604_144319720	144313743	C C	CTCCCCGC others(14): Show CTCCCCGCGCCGCCTCCCCGCG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	330	0.0030	21	c.124 others(38): Show c.1249-103_1249-102insTCCCCGCGCCGCCTCCCCGCG		HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12						chr8	TogoVar
HSF1_chr8_144286604_144319720	144313754	G G	GCGCCGCC others(14): Show GCGCCGCCTCCCCGCGCCGCCT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG03492.hp2 HG01978.hp1 HG03492.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0174 a0002c0002t0001g0246 a0001c0001t0001g0174 a0002c0002t0001g0246	2	330	0.0061	21	c.124 others(36): Show c.1249-91_1249-90insGCCGCCTCCCCGCGCCGCCTC		HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr8	TogoVar
HSPA12A_chr10_116666192_116747566	116696002	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03579.hp2 HG03710.hp1 others(1): Show HG01261.hp1 HG03579.hp2 HG03710.hp1 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0024 a0001c0001t0001g0053 a0001c0001t0001g0096 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0053 a0001c0001t0001g0096 a0001c0001t0003g0284	4	320	0.0125	21	c.546 others(38): Show c.546+2612_546+2632dupTTTTTTTTTTTTTTTTTTTTT		HSPA12A	ENSG00000165868.16	transcript	ENST00000369209.8	protein_coding	5/11						chr10	TogoVar
HSPA4L_chr4_127777322_127845733	127837628	T T	TTTAATCT others(14): Show TTTAATCTAAAGCCCACATTGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0040 a0001c0001t0027g0040	1	340	0.0029	21	c.47 others(32): Show c.4766_*4767insCCACATTGATTAATCTAAAGC		HSPA4L	ENSG00000164070.12	transcript	ENST00000296464.9	protein_coding	19/19				4767	INFO_REALIGN_3_PRIME	chr4	TogoVar
HSPA4_chr5_133047013_133111449	133085489	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0126 a0001c0001t0003g0126	1	364	0.0028	21	c.909 others(38): Show c.909-1280_909-1279insAAAAAAAAAAAAAAAAAAAAA		HSPA4	ENSG00000170606.16	transcript	ENST00000304858.7	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr5	TogoVar
HSPG2_chr1_21817244_21942310	21855139	G G	GGCAGGGG others(14): Show GGCAGGGGCTCCCTGCTGGGAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03130.hp2 HG02145.hp1 HG03130.hp2	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0006 a0001c0039t0006	a0001c0039t0006g0009 a0001c0039t0006g0096 a0001c0039t0006g0009 a0001c0039t0006g0096	2	310	0.0065	21	c.599 others(38): Show c.5997+144_5998-157dupATCCCAGCAGGGAGCCCCTGC		HSPG2	ENSG00000142798.20	transcript	ENST00000374695.8	protein_coding	47/96						chr1	TogoVar
HTR2C_chrX_114579086_114915061	114761969	G G	GTATATAT others(14): Show GTATATATACGTGTATATATAC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0050 a0002c0002t0002g0050	1	176	0.0057	21	c.349 others(40): Show c.349+30372_349+30392dupGTGTATATATACTATATATAC		HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chrX	TogoVar
HTR2C_chrX_114579086_114915061	114806072	A A	AATACCAT others(14): Show AATACCATATCATACATACCTC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0053 a0002c0002t0008g0053	1	176	0.0057	21	c.350 others(40): Show c.350-41931_350-41930insATACCATATCATACATACCTC		HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5						chrX	TogoVar
HTR4_chr5_148476547_148659527	148547566	T T	TAAAATAA others(14): Show TAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	310	0.0032	21	c.353 others(38): Show c.353+1101_353+1102insTATTTTATTTTATTTTATTTT		HTR4	ENSG00000164270.19	transcript	ENST00000377888.8	protein_coding	4/6						chr5	TogoVar
HTT_chr4_3069681_3248957	3074876	C C	CCAGCAGC others(14): Show CCAGCAGCAGCAGCAGCAGCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01943.hp1 HG01943.hp2 NA18952.hp1 HG01943.hp1 HG01943.hp2 NA18952.hp1	a0019 a0019	a0019c0123 a0019c0124 a0019c0125 a0019c0123 a0019c0124 a0019c0125	a0019c0123t0001 a0019c0124t0019 a0019c0125t0002 a0019c0123t0001 a0019c0124t0019 a0019c0125t0002	a0019c0123t0001g0141 a0019c0124t0019g0107 a0019c0125t0002g0108 a0019c0123t0001g0141 a0019c0124t0019g0107 a0019c0125t0002g0108	3	294	0.0102	21	c.90_ others(27): Show c.90_110dupGCAGCAGCAGCAGCAGCAGCA	p.Gln others(11): Show p.Gln31_Gln37dup	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	1/67	256/13472	111/9429	37/3142		INFO_REALIGN_3_PRIME	chr4	TogoVar
HUS1B_chr6_650939_662100	652055	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	432	0.0023	21	c.40 others(32): Show c.4052_*4053insTTTTTTTTTTTTTTTTTTTTT		HUS1B	ENSG00000188996.5	transcript	ENST00000380907.3	protein_coding					3883		chr6	TogoVar
HUS1B_chr6_650939_662100	661611	C C	CACCACTA others(14): Show CACCACTACAAGAACTGCTAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0015 a0015	a0015c0015 a0015c0015	a0015c0015t0001 a0015c0015t0001	a0015c0015t0001g0000 a0015c0015t0001g0000	1	432	0.0023	21	c.-46 others(32): Show c.-4688_-4668dupTTTAGCAGTTCTTGTAGTGGT		HUS1B	ENSG00000188996.5	transcript	ENST00000380907.3	protein_coding					4512		chr6	TogoVar
HYDIN_chr16_70797084_71235722	70902821	A A	ATATATTT others(14): Show ATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp2 NA19030.hp1 HG01928.hp2 NA19030.hp1	a0003 a0004 a0003 a0004	a0003c0079 a0004c0032 a0003c0079 a0004c0032	a0003c0079t0001 a0004c0032t0021 a0003c0079t0001 a0004c0032t0021	a0003c0079t0001g0127 a0004c0032t0021g0062 a0003c0079t0001g0127 a0004c0032t0021g0062	2	174	0.0115	21	c.884 others(38): Show c.8849+803_8849+804insAAAAAAAAAAAAAAAAATATA		HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85						chr16	TogoVar
HYDIN_chr16_70797084_71235722	70902821	A A	ATATTTTT others(14): Show ATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0023 a0023	a0023c0031 a0023c0031	a0023c0031t0030 a0023c0031t0030	a0023c0031t0030g0061 a0023c0031t0030g0061	1	174	0.0058	21	c.884 others(38): Show c.8849+803_8849+804insAAAAAAAAAAAAAAAAAAATA		HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85						chr16	TogoVar
HYI_chr1_43445989_43458931	43453834	A A	AGGCGGCG others(14): Show AGGCGGCGGGCGGCGGGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0009 a0010c0014t0009	a0010c0014t0009g0023 a0010c0014t0009g0023	1	422	0.0024	21	c.-62 others(28): Show c.-62_-42dupCGCCGCCCGCCGCCCGCCGCC		HYI	ENSG00000178922.18	transcript	ENST00000372430.9	protein_coding	1/8				42		chr1	TogoVar
HYKK_chr15_78502577_78541645	78504595	G G	GAAAAAAA others(14): Show GAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG02056.hp2 NA18962.hp2 others(1): Show HG00673.hp1 HG02056.hp2 NA18962.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0029 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0029 a0001c0002t0002 a0001c0002t0011	a0001c0001t0001g0294 a0001c0001t0029g0079 a0001c0002t0002g0008 others(1): Show a0001c0001t0001g0294 a0001c0001t0029g0079 a0001c0002t0002g0008 a0001c0002t0011g0008	4	412	0.0097	21	c.-30 others(32): Show c.-3082_-3081insAAAAAAAAAAAAAAAAAAAAA		HYKK	ENSG00000188266.14	transcript	ENST00000388988.9	protein_coding					2981		chr15	TogoVar
IBA57_chr1_228160804_228187257	228179540	T T	TGGGGTGG others(14): Show TGGGGTGGAGGCAAGTATTCAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0185 a0001c0001t0061g0185	1	416	0.0024	21	c.40 others(32): Show c.4028_*4048dupGGGGTGGAGGCAAGTATTCAG		IBA57	ENSG00000181873.13	transcript	ENST00000366711.4	protein_coding	3/3				4049	INFO_REALIGN_3_PRIME	chr1	TogoVar
ICA1L_chr2_202768176_202876766	202860273	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	330	0.0030	21	c.-8+ others(38): Show c.-8+11325_-8+11345dupATTATTATTATTATTATTATT		ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	1/12						chr2	TogoVar
ID2_chr2_8677056_8689461	8681791	T T	TCCCCGCC others(14): Show TCCCCGCCCCCCGCCCCCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	394	0.0025	21	c.-37 others(30): Show c.-375_-374insCCCCGCCCCCCGCCCCCCGCC		ID2	ENSG00000115738.10	transcript	ENST00000396290.2	protein_coding					264		chr2	TogoVar
ID2_chr2_8677056_8689461	8681791	T T	TCCCCGCC others(14): Show TCCCCGCCCGCCGCTCCCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01516.hp2 others(1): Show HG01257.hp2 HG01258.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010	4	394	0.0102	21	c.-37 others(30): Show c.-375_-374insCCCCGCCCGCCGCTCCCCGCC		ID2	ENSG00000115738.10	transcript	ENST00000396290.2	protein_coding					264		chr2	TogoVar
IDE_chr10_92446684_92579093	92552857	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp2 HG02647.hp1 others(7): Show HG01891.hp2 HG02258.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp1 HG02886.hp2 HG03041.hp2 HG03195.hp2 HG03225.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 others(7): Show a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0284 a0001c0001t0005g0239 a0001c0001t0005g0240 a0001c0001t0005g0241 a0001c0001t0005g0244 a0001c0001t0005g0245	10	314	0.0319	21	c.99- others(38): Show c.99-15328_99-15308dupTTTTTTTTTTTTTTTTTTTTT		IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	1/24						chr10	TogoVar
IDH3A_chr15_78144362_78176945	78158464	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0239 a0001c0002t0001g0239	1	386	0.0026	21	c.174 others(36): Show c.174+833_174+834insATATATATATATATATATATA		IDH3A	ENSG00000166411.14	transcript	ENST00000299518.7	protein_coding	3/10						chr15	TogoVar
IDO2_chr8_39929651_40021392	39986865	C C	CATTATTA others(14): Show CATTATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02083.hp1 NA19054.hp2 others(1): Show HG01978.hp2 HG02083.hp1 NA19054.hp2 NA19240.hp1	a0003 a0016 a0003 a0016	a0003c0003 a0016c0021 a0003c0003 a0016c0021	a0003c0003t0002 a0003c0003t0003 a0016c0021t0014 a0003c0003t0002 a0003c0003t0003 a0016c0021t0014	a0003c0003t0002g0040 a0003c0003t0002g0074 a0003c0003t0003g0289 others(1): Show a0003c0003t0002g0040 a0003c0003t0002g0074 a0003c0003t0003g0289 a0016c0021t0014g0358	4	360	0.0111	21	c.450 others(36): Show c.450-999_450-979dupATTATTATTATTATTATTATT		IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
IDO2_chr8_39929651_40021392	39995251	C C	CCTTCTCC others(14): Show CCTTCTCCTTCTCCTTCTCCTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA18964.hp2 NA18987.hp1 others(2): Show HG03710.hp2 NA18964.hp2 NA18987.hp1 NA18998.hp1 NA19086.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 others(2): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0002c0002t0013 a0004c0004t0003	a0001c0001t0004g0145 a0001c0001t0006g0249 a0001c0001t0007g0184 others(2): Show a0001c0001t0004g0145 a0001c0001t0006g0249 a0001c0001t0007g0184 a0002c0002t0013g0036 a0004c0004t0003g0276	5	360	0.0139	21	c.667 others(38): Show c.667+5418_667+5419insCCTTCTCCTTCTCCTTCTTCT		IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
IDO2_chr8_39929651_40021392	39995251	C C	CCTTCTCC others(14): Show CCTTCTCCTTCTCCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0201 a0004c0004t0003g0201	1	360	0.0028	21	c.667 others(38): Show c.667+5418_667+5419insCCTTCTCCTTCTTCTTCTTCT		IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
IDO2_chr8_39929651_40021392	39995254	T T	TCTCCTTC others(14): Show TCTCCTTCTCCTTCTCCTTCTC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0212 a0001c0001t0007g0212	1	360	0.0028	21	c.667 others(38): Show c.667+5418_667+5419insCCTTCTCCTTCTCCTTCTCCT		IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
IDO2_chr8_39929651_40021392	39995268	T T	TTCCTCTT others(14): Show TTCCTCTTCTTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp2 HG01361.hp1 others(4): Show HG00738.hp2 HG01081.hp2 HG01361.hp1 HG02148.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp2	a0006 a0007 a0006 a0007	a0006c0006 a0007c0008 a0006c0006 a0007c0008	a0006c0006t0005 a0006c0006t0013 a0007c0008t0008 a0006c0006t0005 a0006c0006t0013 a0007c0008t0008	a0006c0006t0005g0306 a0006c0006t0013g0009 a0006c0006t0013g0083 others(4): Show a0006c0006t0005g0306 a0006c0006t0013g0009 a0006c0006t0013g0083 a0006c0006t0013g0084 a0006c0006t0013g0085 a0007c0008t0008g0079 a0007c0008t0008g0080	7	360	0.0194	21	c.667 others(38): Show c.667+5432_667+5433insCTCTTCTTCTTCTTCTTCCTC		IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr8	TogoVar

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