Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GYPC_chr2_126651158_126701667	126663950	GTCTCTCT others(13): Show GTCTCTCTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02056.hp2 HG02965.hp1 others(2): Show HG01975.hp2 HG02056.hp2 HG02965.hp1 HG06807.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0307 a0001c0001t0002g0308 a0001c0002t0001g0009 others(1): Show a0001c0001t0001g0307 a0001c0001t0002g0308 a0001c0002t0001g0009 a0001c0002t0001g0136	5	416	0.0120	-20	c.49+ others(35): Show c.49+7670_49+7689delCTCTCTCTCTCTCTCTCTCT	GYPC	ENSG00000136732.16	transcript	ENST00000259254.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
GYS1_chr19_48963130_48998309	48979336	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG00558.hp2 others(30): Show HG00140.hp1 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG01884.hp2 HG02074.hp2 HG02109.hp1 HG02145.hp2 HG02165.hp2 HG02523.hp1 HG02572.hp1 HG03239.hp1 HG03491.hp2 HG03688.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18942.hp1 NA18955.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18971.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA19068.hp2 NA19074.hp1 NA19083.hp1 NA19240.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0018 a0008c0016	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0002c0003t0001 a0002c0003t0005 a0002c0018t0001 a0008c0016t0005	a0001c0001t0001g0105 a0001c0001t0001g0174 a0001c0001t0001g0192 others(28): Show a0001c0001t0001g0105 a0001c0001t0001g0174 a0001c0001t0001g0192 a0001c0001t0003g0026 a0001c0001t0003g0221 a0001c0001t0003g0270 a0001c0001t0003g0311 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0334 a0001c0001t0003g0335 a0001c0002t0001g0008 a0001c0002t0001g0125 a0002c0003t0001g0069 a0002c0003t0001g0087 a0002c0003t0001g0155 a0002c0003t0001g0166 a0002c0003t0001g0196 a0002c0003t0001g0225 a0002c0003t0001g0237 a0002c0003t0001g0262 a0002c0003t0001g0290 a0002c0003t0001g0314 a0002c0003t0001g0317 a0002c0003t0001g0329 a0002c0003t0001g0336 a0002c0003t0005g0040 a0002c0003t0005g0042 a0002c0018t0001g0273 a0008c0016t0005g0041	33	390	0.0846	-20	c.117 others(39): Show c.1170-1199_1170-1180delAAAAAAAAAAAAAAAAAAAA	GYS1	ENSG00000104812.15	transcript	ENST00000323798.8	protein_coding	8/15			chr19	TogoVar
H1-0_chr22_37800229_37812432	37805448	GGGCTCAG others(13): Show GGGCTCAGGAGCAGATCCCGA	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0000 a0001c0001t0014g0000	1	360	0.0028	-20	c.-93 others(27): Show c.-93_-74delTCAGGAGCAGATCCCGAGGC	H1-0	ENSG00000189060.6	transcript	ENST00000340857.4	protein_coding	1/1	74	INFO_REALIGN_3_PRIME	chr22	TogoVar
H1-3_chr6_26229212_26239987	26229944	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01361.hp1 HG02451.hp2 others(3): Show HG01255.hp1 HG01361.hp1 HG02451.hp2 HG03098.hp1 HG03710.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0000 a0001c0002t0002g0000 a0001c0001t0001g0000 a0001c0002t0002g0000	6	340	0.0177	-20	c.43 others(31): Show c.4304_*4323delATTTATTTATTTATTTATTT	H1-3	ENSG00000124575.7	transcript	ENST00000244534.7	protein_coding		4267		chr6	TogoVar
H1-8_chr3_129538175_129556467	129540468	GTATATAT others(13): Show GTATATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00621.hp1 others(24): Show HG00423.hp1 HG00544.hp1 HG00621.hp1 HG00735.hp1 HG01081.hp1 HG01433.hp1 HG01993.hp2 HG02132.hp2 HG02165.hp2 NA18951.hp1 NA18960.hp1 NA18962.hp2 NA18975.hp2 NA18980.hp1 NA18993.hp2 NA19005.hp1 NA19007.hp2 NA19011.hp2 NA19012.hp1 NA19056.hp2 NA19062.hp2 NA19074.hp2 NA19079.hp1 NA19083.hp2 NA19084.hp1 NA19091.hp2 NA21309.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0009	a0001c0001 a0002c0002 a0004c0013 others(2): Show a0001c0001 a0002c0002 a0004c0013 a0005c0007 a0009c0014	a0001c0001t0001 a0002c0002t0001 a0004c0013t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0004c0013t0001 a0005c0007t0003 a0009c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0021 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0035 a0002c0002t0001g0003 a0002c0002t0001g0019 a0002c0002t0001g0025 a0002c0002t0001g0031 a0002c0002t0001g0040 a0002c0002t0001g0049 a0002c0002t0001g0082 a0004c0013t0001g0119 a0005c0007t0003g0001 a0009c0014t0001g0003	27	422	0.0640	-20	c.-27 others(31): Show c.-2750_-2731delTATATATATATATATATATA	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		2706		chr3	TogoVar
H1-8_chr3_129538175_129556467	129540504	ATATATAT others(13): Show ATATATATATATATATATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	1	422	0.0024	-20	c.-27 others(31): Show c.-2714_-2695delTATATATATATATATATATT	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		2670		chr3	TogoVar
H2AC12_chr6_27142106_27152562	27145295	TACACACA others(13): Show TACACACACACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01891.hp2 HG02572.hp2 HG01255.hp2 HG01891.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	382	0.0079	-20	c.-18 others(31): Show c.-1833_-1814delACACACACACACACACACAC	H2AC12	ENSG00000274997.2	transcript	ENST00000377459.3	protein_coding		1810		chr6	TogoVar
H2AC15_chr6_27832880_27843375	27840742	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0000 a0005c0008t0001g0000	1	408	0.0025	-20	c.-24 others(31): Show c.-2423_-2404delATTTATTTATTTATTTATTT	H2AC15	ENSG00000275221.2	transcript	ENST00000618958.2	protein_coding		2368		chr6	TogoVar
H2AC18_chr1_149837218_149847750	149838035	TCTCTCTC others(13): Show TCTCTCTCTCTCTCACACACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0000 a0001c0001t0005g0000	1	320	0.0031	-20	c.42 others(31): Show c.4251_*4270delTGTGTGTGAGAGAGAGAGAG	H2AC18	ENSG00000288825.1	transcript	ENST00000369159.3	protein_coding		4182		chr1	TogoVar
H2AC18_chr1_149837218_149847750	149842092	CCCCGCCC others(13): Show CCCCGCCCCGCCCCGTCCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG03486.hp1 HG02886.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0000 a0001c0002t0003g0000	2	320	0.0063	-20	c.19 others(29): Show c.194_*213delACGGGACGGGGCGGGGCGGG	H2AC18	ENSG00000288825.1	transcript	ENST00000369159.3	protein_coding		125		chr1	TogoVar
H2AC18_chr1_149837218_149847750	149842097	CCCCGCCC others(13): Show CCCCGCCCCGTCCCGTCCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG03453.hp1 others(1): Show HG00099.hp1 HG00280.hp2 HG03453.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0001g0000 a0001c0001t0002g0000	4	320	0.0125	-20	c.18 others(29): Show c.189_*208delACGGGACGGGACGGGGCGGG	H2AC18	ENSG00000288825.1	transcript	ENST00000369159.3	protein_coding		120		chr1	TogoVar
H2AC19_chr1_149846061_149856594	149851673	TGACGGGA others(13): Show TGACGGGACGGGACGGGACGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG02922.hp2 HG00735.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0001g0000 a0001c0001t0002g0000	2	328	0.0061	-20	c.16 others(29): Show c.168_*187delGACGGGACGGGACGGGACGG	H2AC19	ENSG00000288859.1	transcript	ENST00000607355.3	protein_coding		80		chr1	TogoVar
H2AC19_chr1_149846061_149856594	149851690	ACGGGACG others(13): Show ACGGGACGGGACGGGACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG01433.hp2 others(2): Show HG00099.hp1 HG00733.hp1 HG01433.hp2 HG02258.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0002 a0001c0001t0002 a0001c0005t0002	a0001c0001t0002g0000 a0001c0005t0002g0000 a0001c0001t0002g0000 a0001c0005t0002g0000	5	328	0.0152	-20	c.18 others(29): Show c.185_*204delCGGGACGGGACGGGACGGGG	H2AC19	ENSG00000288859.1	transcript	ENST00000607355.3	protein_coding		97		chr1	TogoVar
H2AC19_chr1_149846061_149856594	149851695	ACGGGACG others(13): Show ACGGGACGGGACGGGGCGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG03041.hp2 HG03130.hp1 others(2): Show HG02622.hp2 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0000 a0001c0002t0003g0000 a0001c0001t0001g0000 a0001c0002t0003g0000	5	328	0.0152	-20	c.19 others(29): Show c.190_*209delCGGGACGGGACGGGGCGGGG	H2AC19	ENSG00000288859.1	transcript	ENST00000607355.3	protein_coding		102		chr1	TogoVar
H2AZ2_chr7_44826978_44853087	44843137	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	406	0.0025	-20	c.81+ others(33): Show c.81+120_81+139delTTTTTTTTTTTTTTTTTTTT	H2AZ2	ENSG00000105968.19	transcript	ENST00000308153.9	protein_coding	2/4			chr7	TogoVar
H2AZ2_chr7_44826978_44853087	44846024	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0176 a0001c0001t0003g0176	1	406	0.0025	-20	c.3+1 others(33): Show c.3+1925_3+1944delGTGTGTGTGTGTGTGTGTGT	H2AZ2	ENSG00000105968.19	transcript	ENST00000308153.9	protein_coding	1/4			chr7	TogoVar
H2BC12_chr6_27141361_27151855	27145295	TACACACA others(13): Show TACACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01891.hp1 HG02572.hp2 HG01255.hp1 HG01891.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	384	0.0078	-20	c.11 others(31): Show c.1103_*1122delGTGTGTGTGTGTGTGTGTGT	H2BC12	ENSG00000197903.8	transcript	ENST00000356950.2	protein_coding		1065		chr6	TogoVar
H2BC15_chr6_27833569_27844110	27840742	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	416	0.0024	-20	c.17 others(31): Show c.1701_*1720delAAATAAATAAATAAATAAAT	H2BC15	ENSG00000233822.6	transcript	ENST00000612898.2	protein_coding		1633		chr6	TogoVar
H3C11_chr6_27866845_27877346	27876576	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	374	0.0027	-20	c.-42 others(31): Show c.-4281_-4262delTTTTTTTTTTTTTTTTTTTT	H3C11	ENSG00000275379.2	transcript	ENST00000616365.2	protein_coding		4231		chr6	TogoVar
H3C14_chr1_149835687_149846208	149838035	TCTCTCTC others(13): Show TCTCTCTCTCTCTCACACACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	302	0.0033	-20	c.26 others(31): Show c.2692_*2711delTGTGTGTGAGAGAGAGAGAG	H3C14	ENSG00000203811.2	transcript	ENST00000369158.2	protein_coding		2651		chr1	TogoVar
H3C14_chr1_149835687_149846208	149842092	CCCCGCCC others(13): Show CCCCGCCCCGCCCCGTCCCGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG03486.hp1 HG02886.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	302	0.0066	-20	c.-95 others(29): Show c.-955_-936delACGGGACGGGGCGGGGCGGG	H3C14	ENSG00000203811.2	transcript	ENST00000369158.2	protein_coding		885		chr1	TogoVar
H3C14_chr1_149835687_149846208	149842097	CCCCGCCC others(13): Show CCCCGCCCCGTCCCGTCCCGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG03453.hp1 others(1): Show HG00099.hp1 HG00280.hp2 HG03453.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	302	0.0133	-20	c.-96 others(29): Show c.-960_-941delACGGGACGGGACGGGGCGGG	H3C14	ENSG00000203811.2	transcript	ENST00000369158.2	protein_coding		890		chr1	TogoVar
H3C15_chr1_149847608_149858125	149851673	TGACGGGA others(13): Show TGACGGGACGGGACGGGACGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG02922.hp2 HG00735.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	332	0.0060	-20	c.-98 others(29): Show c.-981_-962delGACGGGACGGGACGGGACGG	H3C15	ENSG00000203852.4	transcript	ENST00000403683.2	protein_coding		934		chr1	TogoVar
H3C15_chr1_149847608_149858125	149851690	ACGGGACG others(13): Show ACGGGACGGGACGGGACGGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00733.hp2 HG01433.hp2 others(3): Show HG00099.hp1 HG00733.hp2 HG01433.hp2 HG02258.hp1 HG03195.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	6	332	0.0181	-20	c.-96 others(29): Show c.-964_-945delCGGGACGGGACGGGACGGGG	H3C15	ENSG00000203852.4	transcript	ENST00000403683.2	protein_coding		917		chr1	TogoVar
H3C15_chr1_149847608_149858125	149851695	ACGGGACG others(13): Show ACGGGACGGGACGGGGCGGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG03041.hp2 HG03130.hp1 others(2): Show HG02622.hp2 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	5	332	0.0151	-20	c.-95 others(29): Show c.-959_-940delCGGGACGGGACGGGGCGGGG	H3C15	ENSG00000203852.4	transcript	ENST00000403683.2	protein_coding		912		chr1	TogoVar
H3C6_chr6_26220135_26230616	26226361	CTTATTTA others(13): Show CTTATTTATTTATTTATTTAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	354	0.0028	-20	c.79 others(29): Show c.797_*816delTTATTTATTTATTTATTTAT	H3C6	ENSG00000274750.3	transcript	ENST00000614911.3	protein_coding		746		chr6	TogoVar
H3C6_chr6_26220135_26230616	26229944	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01361.hp2 HG02451.hp1 others(3): Show HG01255.hp2 HG01361.hp2 HG02451.hp1 HG03098.hp1 HG03710.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	6	354	0.0170	-20	c.43 others(31): Show c.4380_*4399delAAATAAATAAATAAATAAAT	H3C6	ENSG00000274750.3	transcript	ENST00000614911.3	protein_coding		4329		chr6	TogoVar
H4C13_chr6_27868148_27878534	27876576	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	384	0.0026	-20	c.-30 others(31): Show c.-3086_-3067delTTTTTTTTTTTTTTTTTTTT	H4C13	ENSG00000275126.2	transcript	ENST00000618305.2	protein_coding		3043		chr6	TogoVar
H4C14_chr1_149827657_149838052	149827845	CTTTCTTT others(13): Show CTTTCTTTCTTTCTTCTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01123.hp2 others(3): Show HG01069.hp1 HG01071.hp1 HG01123.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	6	236	0.0254	-20	c.-48 others(31): Show c.-4839_-4820delTTTCTTTCTTTCTTCTTTCT	H4C14	ENSG00000270882.3	transcript	ENST00000578186.3	protein_coding		4811		chr1	TogoVar
H4C15_chr1_149855764_149866159	149865946	AAAAAGAA others(13): Show AAAAAGAAAGAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	206	0.0049	-20	c.-48 others(31): Show c.-4835_-4816delCTTTCTTTCTTCTTTCTTTT	H4C15	ENSG00000270276.3	transcript	ENST00000579512.3	protein_coding		4788		chr1	TogoVar
H4C15_chr1_149855764_149866159	149865955	GAAGAAAG others(13): Show GAAGAAAGAAAGAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG03239.hp1 NA18522.hp1 HG00738.hp1 HG03239.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	206	0.0146	-20	c.-48 others(31): Show c.-4844_-4825delTCTTTCTTTCTTTCTTTCTT	H4C15	ENSG00000270276.3	transcript	ENST00000579512.3	protein_coding		4797		chr1	TogoVar
HAAO_chr2_42762089_42797583	42786009	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02040.hp1 HG02165.hp1 others(4): Show HG01496.hp2 HG02040.hp1 HG02165.hp1 HG02559.hp2 HG02735.hp2 HG03654.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0001t0001 a0001c0001t0002 a0001c0006t0001	a0001c0001t0001g0352 a0001c0001t0001g0356 a0001c0001t0001g0357 others(3): Show a0001c0001t0001g0352 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0002g0192 a0001c0006t0001g0014	7	410	0.0171	-20	c.160 others(37): Show c.160-2162_160-2143delCACACACACACACACACACA	HAAO	ENSG00000162882.15	transcript	ENST00000294973.11	protein_coding	2/9			chr2	TogoVar
HABP4_chr9_96445169_96496336	96456776	AAAAAATA others(13): Show AAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	306	0.0033	-20	c.350 others(37): Show c.350-1601_350-1582delAAAATATATATATATATATA	HABP4	ENSG00000130956.14	transcript	ENST00000375249.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
HABP4_chr9_96445169_96496336	96456780	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03017.hp2 HG02486.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0110 a0001c0001t0001g0101 a0001c0001t0001g0110	2	306	0.0065	-20	c.350 others(37): Show c.350-1576_350-1557delATATATATATATATATATAT	HABP4	ENSG00000130956.14	transcript	ENST00000375249.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
HACD2_chr3_123486554_123590053	123563640	TATATACA others(13): Show TATATACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0199 a0001c0001t0005g0199	1	350	0.0029	-20	c.292 others(37): Show c.292+4102_292+4121delGTGTGTGTGTGTGTGTATAT	HACD2	ENSG00000206527.10	transcript	ENST00000383657.10	protein_coding	3/6			chr3	TogoVar
HACD2_chr3_123486554_123590053	123569988	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00558.hp1 others(33): Show HG00323.hp1 HG00423.hp1 HG00558.hp1 HG00597.hp1 HG01346.hp2 HG01358.hp2 HG02015.hp1 HG02071.hp2 HG02132.hp1 HG02155.hp1 HG02602.hp1 HG03704.hp1 NA18612.hp1 NA18944.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18961.hp1 NA18968.hp1 NA18971.hp1 NA18972.hp2 NA18974.hp1 NA18978.hp1 NA18981.hp1 NA18983.hp1 NA18994.hp1 NA18995.hp1 NA19003.hp2 NA19004.hp2 NA19012.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0025 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0002t0001	a0001c0001t0002g0003 a0001c0001t0002g0117 a0001c0001t0002g0118 others(32): Show a0001c0001t0002g0003 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0170 a0001c0001t0002g0174 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0005g0139 a0001c0001t0025g0140 a0001c0001t0027g0121 a0001c0001t0028g0119 a0001c0002t0001g0028 a0001c0002t0001g0063	36	350	0.1029	-20	c.274 others(37): Show c.274-2228_274-2209delTTTTTTTTTTTTTTTTTTTT	HACD2	ENSG00000206527.10	transcript	ENST00000383657.10	protein_coding	2/6			chr3	TogoVar
HACD3_chr15_65525463_65583349	65537950	AAAAAAAA others(13): Show AAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA18999.hp1 HG04199.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0052 a0001c0001t0001g0053	2	328	0.0061	-20	c.87+ others(35): Show c.87+7234_87+7253delAAAAAAAATATATATATATA	HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
HACD3_chr15_65525463_65583349	65537952	AAAAAAAA others(13): Show AAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02293.hp1 HG02300.hp2 others(5): Show HG02273.hp1 HG02293.hp1 HG02300.hp2 NA18941.hp1 NA18990.hp1 NA19002.hp2 NA19005.hp2 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0002 a0003c0005t0002 a0001c0002t0002 a0003c0005t0002	a0001c0002t0002g0002 a0001c0002t0002g0220 a0001c0002t0002g0221 others(2): Show a0001c0002t0002g0002 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0003c0005t0002g0002	8	328	0.0244	-20	c.87+ others(35): Show c.87+7236_87+7255delAAAAAATATATATATATATA	HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
HACE1_chr6_104723094_104864919	104831980	GAGGAAGG others(13): Show GAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03139.hp1 NA18970.hp2 HG03130.hp1 HG03139.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0328 a0001c0004t0001g0143 a0001c0004t0001g0147 a0001c0001t0001g0328 a0001c0004t0001g0143 a0001c0004t0001g0147	3	346	0.0087	-20	c.534 others(37): Show c.534+1042_534+1061delTCCTTCCTTCCTTCCTTCCT	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding	6/23			chr6	TogoVar
HACL1_chr3_15555699_15606569	15571829	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01884.hp2 HG02970.hp2 HG01081.hp1 HG01884.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0047 a0001c0001t0001g0187 a0001c0001t0001g0188	3	428	0.0070	-20	c.994 others(33): Show c.994-80_994-61delAAAAAAAAAAAAAAAAAAAA	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	11/16			chr3	TogoVar
HACL1_chr3_15555699_15606569	15591916	AGTGTATA others(13): Show AGTGTATATATACGTATATAC	A A	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0349 a0001c0002t0001g0349	1	428	0.0023	-20	c.228 others(35): Show c.228-256_228-237delGTATATACGTATATATACAC	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HADH_chr4_107984889_108040171	108022181	GTGTGTGT others(13): Show GTGTGTGTATGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	304	0.0033	-20	c.547 others(37): Show c.547-1285_547-1266delATGTGTGTGTGTATGTGTGT	HADH	ENSG00000138796.18	transcript	ENST00000309522.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
HAGH_chr16_1802629_1831825	1820056	GGGGGCTG others(13): Show GGGGGCTGCCTGCTGAGCTGA	G G	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0005 a0007c0013t0005	a0007c0013t0005g0300 a0007c0013t0005g0300	1	436	0.0023	-20	c.315 others(33): Show c.315-62_315-43delTCAGCTCAGCAGGCAGCCCC	HAGH	ENSG00000063854.13	transcript	ENST00000397356.8	protein_coding	3/8			chr16	TogoVar
HAPLN1_chr5_83632805_83725855	83676144	GTGCACAC others(13): Show GTGCACACATACACAGAGATA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02615.hp2 HG02886.hp2 others(9): Show HG01884.hp2 HG02615.hp2 HG02886.hp2 HG02896.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03225.hp1 HG03225.hp2 HG03579.hp2 NA19240.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0036 a0002c0003t0005	a0001c0001t0001g0344 a0001c0001t0001g0349 a0001c0001t0001g0351 others(9): Show a0001c0001t0001g0344 a0001c0001t0001g0349 a0001c0001t0001g0351 a0001c0001t0004g0347 a0001c0001t0004g0348 a0001c0001t0004g0350 a0001c0001t0004g0354 a0001c0001t0006g0283 a0001c0001t0006g0353 a0001c0001t0008g0346 a0001c0001t0036g0352 a0002c0003t0005g0345	12	372	0.0323	-20	c.-26 others(37): Show c.-26-2615_-26-2596delTATCTCTGTGTATGTGTGCA	HAPLN1	ENSG00000145681.11	transcript	ENST00000274341.9	protein_coding	1/4			chr5	TogoVar
HAPLN1_chr5_83632805_83725855	83676175	CACAGAGA others(13): Show CACAGAGATACGCACACATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(62): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG01070.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01256.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp2 HG01928.hp2 HG01934.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02129.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02698.hp1 HG02896.hp2 HG03017.hp1 HG03130.hp2 HG03491.hp1 HG03654.hp1 HG03669.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG04204.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18957.hp1 NA18970.hp2 NA18975.hp2 NA18977.hp2 NA18980.hp2 NA18983.hp2 NA18984.hp2 NA18991.hp1 NA18995.hp2 NA19003.hp1 NA19011.hp2 NA19030.hp2 NA19056.hp2 NA19058.hp2 NA19063.hp1 NA19065.hp1 NA19072.hp1 NA19075.hp2 NA19076.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19240.hp2 NA20300.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0006c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0029 a0001c0001t0033 a0001c0001t0042 a0001c0002t0002 a0001c0002t0011 a0001c0002t0017 a0002c0003t0005 a0002c0003t0021 a0006c0005t0003	a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0104 others(62): Show a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0104 a0001c0001t0001g0253 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0001g0276 a0001c0001t0001g0290 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0318 a0001c0001t0001g0331 a0001c0001t0001g0335 a0001c0001t0001g0338 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0273 a0001c0001t0003g0291 a0001c0001t0003g0319 a0001c0001t0003g0342 a0001c0001t0004g0077 a0001c0001t0004g0264 a0001c0001t0004g0278 a0001c0001t0004g0279 a0001c0001t0004g0301 a0001c0001t0007g0317 a0001c0001t0008g0277 a0001c0001t0015g0024 a0001c0001t0018g0025 a0001c0001t0019g0312 a0001c0001t0019g0313 a0001c0001t0023g0287 a0001c0001t0023g0300 a0001c0001t0024g0270 a0001c0001t0029g0311 a0001c0001t0033g0081 a0001c0001t0042g0330 a0001c0002t0002g0078 a0001c0002t0002g0080 a0001c0002t0002g0082 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0259 a0001c0002t0002g0261 a0001c0002t0002g0265 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0288 a0001c0002t0002g0292 a0001c0002t0002g0298 a0001c0002t0002g0304 a0001c0002t0002g0309 a0001c0002t0002g0314 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0334 a0001c0002t0002g0336 a0001c0002t0002g0339 a0001c0002t0011g0260 a0001c0002t0017g0320 a0001c0002t0017g0337 a0002c0003t0005g0282 a0002c0003t0021g0274 a0006c0005t0003g0286	65	372	0.1747	-20	c.-26 others(37): Show c.-26-2646_-26-2627delATATGTGTGCGTATCTCTGT	HAPLN1	ENSG00000145681.11	transcript	ENST00000274341.9	protein_coding	1/4			chr5	TogoVar
HAPLN4_chr19_19249756_19267804	19262395	GAGGGAGA others(13): Show GAGGGAGAGGGAGAGACAGAA	G G	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	400	0.0025	-20	c.3+3 others(31): Show c.3+315_3+334delTTCTGTCTCTCCCTCTCCCT	HAPLN4	ENSG00000187664.9	transcript	ENST00000291481.8	protein_coding	1/4			chr19	TogoVar
HARBI1_chr11_46597861_46622227	46622073	TTACATAT others(13): Show TTACATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02965.hp1 HG01109.hp2 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0177 a0001c0002t0001g0178	2	258	0.0078	-20	c.-51 others(31): Show c.-5114_-5095delTATATATATATATATATGTA	HARBI1	ENSG00000180423.4	transcript	ENST00000326737.3	protein_coding		4847		chr11	TogoVar
HARBI1_chr11_46597861_46622227	46622076	CATATATA others(13): Show CATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG03130.hp2 HG03486.hp1 others(2): Show HG01261.hp1 HG03130.hp2 HG03486.hp1 HG03486.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0114 others(1): Show a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0114 a0001c0001t0001g0148	5	258	0.0194	-20	c.-51 others(31): Show c.-5117_-5098delATATATATATATATATATAT	HARBI1	ENSG00000180423.4	transcript	ENST00000326737.3	protein_coding		4850		chr11	TogoVar
HAS3_chr16_69100653_69122660	69104992	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02523.hp1 NA18939.hp2 others(3): Show HG02155.hp2 HG02523.hp1 NA18939.hp2 NA18960.hp2 NA19062.hp1 NA19080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0022 a0001c0002t0002g0024 a0001c0002t0002g0022 a0001c0002t0002g0024	6	410	0.0146	-20	c.-79 others(29): Show c.-795_-776delTTTTTTTTTTTTTTTTTTTT	HAS3	ENSG00000103044.11	transcript	ENST00000569188.6	protein_coding		660		chr16	TogoVar
HAT1_chr2_171917461_171988686	171938024	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01109.hp1 HG01981.hp2 others(5): Show HG00099.hp1 HG01109.hp1 HG01981.hp2 HG03942.hp2 NA18960.hp1 NA18974.hp1 NA19060.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0216 a0001c0001t0001g0237 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0216 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0273 a0001c0001t0001g0309	8	326	0.0245	-20	c.113 others(37): Show c.113-8652_113-8633delCTCTCTCTCTCTCTCTCTCT	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar

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