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
H1-8_chr3_129538175_129556467	129538525	C C	CCCTCCCT others(17): Show CCCTCCCTCCCTCCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0014 a0001c0003t0001g0014	1	422	0.0024	24	c.-46 others(35): Show c.-4694_-4693insCCTCCCTCCCTCCCTTCCTTCCTT	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		4649		chr3	TogoVar
H1-8_chr3_129538175_129556467	129538525	C C	CCCTCCCT others(17): Show CCCTCCCTCCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01433.hp1 HG02647.hp1 others(4): Show HG01081.hp1 HG01433.hp1 HG02647.hp1 HG02970.hp2 HG02976.hp2 HG03516.hp1 NA19089.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0009 a0002c0002 a0006c0009	a0002c0002t0001 a0006c0009t0001 a0002c0002t0001 a0006c0009t0001	a0002c0002t0001g0003 a0002c0002t0001g0094 a0006c0009t0001g0008 a0002c0002t0001g0003 a0002c0002t0001g0094 a0006c0009t0001g0008	7	422	0.0166	24	c.-46 others(35): Show c.-4694_-4693insCCTCCCTCCCTTCCTTCCTTCCTT	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		4649		chr3	TogoVar
H2AB2_chrX_155375709_155386299	155384120	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18947.hp2 NA18612.hp1 NA18947.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0000 a0002c0002t0001g0000 a0001c0001t0001g0000 a0002c0002t0001g0000	2	229	0.0087	24	c.29 others(35): Show c.2986_*2987insTTTTTTTTTTTTTTTTTTTTTTTT	H2AB2	ENSG00000277858.2	transcript	ENST00000354514.6	protein_coding		2822		chrX	TogoVar
H2AC15_chr6_27832880_27843375	27842919	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	408	0.0025	24	c.-45 others(35): Show c.-4581_-4580insTATATATATATATATATATATATA	H2AC15	ENSG00000275221.2	transcript	ENST00000618958.2	protein_coding		4545		chr6	TogoVar
H2AC18_chr1_149837218_149847750	149838393	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	320	0.0031	24	c.38 others(35): Show c.3889_*3912dupGTGTGTGTGTGTGTGTGTGTGTGT	H2AC18	ENSG00000288825.1	transcript	ENST00000369159.3	protein_coding		3824		chr1	TogoVar
H2AC4_chr6_26028092_26038618	26031152	G G	GCATATAT others(17): Show GCATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	406	0.0025	24	c.20 others(35): Show c.2023_*2024insTATATATATATATATATATATATG	H2AC4	ENSG00000278463.2	transcript	ENST00000615868.2	protein_coding		1939		chr6	TogoVar
H2AC4_chr6_26028092_26038618	26031152	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00735.hp1 HG01081.hp1 others(24): Show HG00423.hp1 HG00735.hp1 HG01081.hp1 HG01256.hp2 HG01261.hp1 HG01515.hp1 HG01517.hp1 HG01891.hp2 HG01952.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02717.hp2 HG02723.hp2 HG03486.hp2 HG03540.hp1 HG03831.hp2 HG06807.hp1 NA18941.hp2 NA18944.hp1 NA18966.hp2 NA18971.hp1 NA18998.hp1 NA18998.hp2 NA19057.hp1 NA19068.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0006	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0005g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0002t0001g0000 a0001c0002t0006g0000	27	406	0.0665	24	c.20 others(35): Show c.2023_*2024insTATATATATATATATATATATATA	H2AC4	ENSG00000278463.2	transcript	ENST00000615868.2	protein_coding		1939		chr6	TogoVar
H2AZ2_chr7_44826978_44853087	44846062	C C	CACACACA others(17): Show CACACACACACACACACACAGAGAG	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0110 a0001c0001t0006g0110	1	406	0.0025	24	c.3+1 others(37): Show c.3+1906_3+1907insCTCTCTGTGTGTGTGTGTGTGTGT	H2AZ2	ENSG00000105968.19	transcript	ENST00000308153.9	protein_coding	1/4			chr7	TogoVar
H2BC15_chr6_27833569_27844110	27842919	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	416	0.0024	24	c.38 others(35): Show c.3877_*3878insTATATATATATATATATATATATA	H2BC15	ENSG00000233822.6	transcript	ENST00000612898.2	protein_coding		3810		chr6	TogoVar
H2BK1_chr7_151202837_151215488	151206719	A A	AAGATAGA others(17): Show AAGATAGATAGATAGATAGATAGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00544.hp2 others(58): Show HG00099.hp1 HG00423.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG01081.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01516.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG02004.hp1 HG02071.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02273.hp2 HG02300.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02738.hp1 HG02886.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03486.hp2 HG03688.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 NA18943.hp1 NA18948.hp2 NA18962.hp2 NA18970.hp2 NA18993.hp1 NA19043.hp1 NA19043.hp2 NA19074.hp1 NA19074.hp2 NA19082.hp1 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0051 others(20): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0051 a0001c0001t0002g0005 a0001c0001t0002g0014 a0001c0001t0002g0020 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0054 a0001c0001t0003g0056 a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0005g0009 a0001c0001t0005g0012 a0001c0001t0006g0007 a0001c0001t0006g0025 a0001c0001t0007g0017 a0001c0001t0009g0024 a0002c0002t0001g0029 a0002c0002t0002g0004 a0002c0002t0002g0038	61	410	0.1488	24	c.11 others(35): Show c.1151_*1152insATCTATCTATCTATCTATCTATCT	H2BK1	ENSG00000285480.2	transcript	ENST00000644661.2	protein_coding		1117		chr7	TogoVar
H3-3B_chr17_75771434_75784779	75782239	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	432	0.0023	24	c.-25 others(35): Show c.-2594_-2593insAAAAAAAAAAAAAAAAAAAAAAAA	H3-3B	ENSG00000132475.10	transcript	ENST00000254810.8	protein_coding		2461		chr17	TogoVar
H3C11_chr6_27866845_27877346	27875500	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG03669.hp2 HG00280.hp2 HG00639.hp1 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0000 a0001c0002t0002g0000 a0001c0002t0001g0000 a0001c0002t0002g0000	3	374	0.0080	24	c.-31 others(35): Show c.-3186_-3185insAAAAAAAAAAAAAAAAAAAAAAAA	H3C11	ENSG00000275379.2	transcript	ENST00000616365.2	protein_coding		3155		chr6	TogoVar
H3C14_chr1_149835687_149846208	149838393	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	302	0.0033	24	c.23 others(35): Show c.2330_*2353dupGTGTGTGTGTGTGTGTGTGTGTGT	H3C14	ENSG00000203811.2	transcript	ENST00000369158.2	protein_coding		2293		chr1	TogoVar
H3C2_chr6_26026589_26037099	26031152	G G	GCATATAT others(17): Show GCATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	396	0.0025	24	c.49 others(33): Show c.497_*498insTATATATATATATATATATATATG	H3C2	ENSG00000286522.2	transcript	ENST00000621411.3	protein_coding		436		chr6	TogoVar
H3C2_chr6_26026589_26037099	26031152	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01081.hp1 HG01256.hp2 others(22): Show HG00735.hp1 HG01081.hp1 HG01256.hp2 HG01261.hp1 HG01515.hp1 HG01517.hp1 HG01891.hp2 HG01952.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02717.hp2 HG02723.hp2 HG03486.hp1 HG03540.hp2 HG03831.hp2 HG06807.hp1 NA18941.hp2 NA18944.hp1 NA18971.hp1 NA19011.hp1 NA19011.hp2 NA19057.hp1 NA19068.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0000 a0001c0001t0005g0000 a0001c0001t0001g0000 a0001c0001t0005g0000	25	396	0.0631	24	c.49 others(33): Show c.497_*498insTATATATATATATATATATATATA	H3C2	ENSG00000286522.2	transcript	ENST00000621411.3	protein_coding		436		chr6	TogoVar
H3Y2_chr5_17485967_17497076	17493385	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00735.hp2 HG01169.hp1 others(9): Show HG00408.hp2 HG00735.hp2 HG01169.hp1 HG02071.hp2 HG02132.hp1 HG02300.hp2 HG03209.hp1 HG04228.hp2 NA18947.hp2 NA18981.hp2 NA19001.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0001t0001g0000 a0001c0002t0001g0000	12	400	0.0300	24	c.-16 others(35): Show c.-1618_-1617insATATATATATATATATATATATAT	H3Y2	ENSG00000268799.4	transcript	ENST00000600799.3	protein_coding		1310		chr5	TogoVar
H4C13_chr6_27868148_27878534	27875500	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG03669.hp1 HG00280.hp2 HG00639.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	384	0.0078	24	c.-19 others(35): Show c.-1991_-1990insAAAAAAAAAAAAAAAAAAAAAAAA	H4C13	ENSG00000275126.2	transcript	ENST00000618305.2	protein_coding		1967		chr6	TogoVar
H4C14_chr1_149827657_149838052	149827821	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01981.hp1 HG01981.hp2 others(2): Show HG01261.hp1 HG01981.hp1 HG01981.hp2 HG02818.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	5	236	0.0212	24	c.-48 others(35): Show c.-4864_-4863insTTTCTTTCTTTCTTTCTTTCTTTC	H4C14	ENSG00000270882.3	transcript	ENST00000578186.3	protein_coding		4835		chr1	TogoVar
H4C2_chr6_26021896_26032283	26031152	G G	GCATATAT others(17): Show GCATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	400	0.0025	24	c.-39 others(35): Show c.-3901_-3900insTATATATATATATATATATATATG	H4C2	ENSG00000278705.3	transcript	ENST00000377745.5	protein_coding		3870		chr6	TogoVar
H4C2_chr6_26021896_26032283	26031152	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01081.hp2 HG01256.hp2 others(22): Show HG00735.hp1 HG01081.hp2 HG01256.hp2 HG01261.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01952.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02717.hp1 HG03486.hp2 HG03540.hp1 HG03831.hp2 HG06807.hp2 NA18941.hp1 NA18943.hp1 NA18944.hp2 NA18971.hp2 NA19057.hp1 NA19066.hp1 NA19066.hp2 NA19080.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001	a0001c0001t0001g0000 a0001c0002t0002g0000 a0001c0002t0004g0000 others(1): Show a0001c0001t0001g0000 a0001c0002t0002g0000 a0001c0002t0004g0000 a0001c0003t0001g0000	25	400	0.0625	24	c.-39 others(35): Show c.-3901_-3900insTATATATATATATATATATATATA	H4C2	ENSG00000278705.3	transcript	ENST00000377745.5	protein_coding		3870		chr6	TogoVar
HACD1_chr10_17584032_17622374	17609155	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0335 a0001c0012t0001g0335	1	410	0.0024	24	c.258 others(41): Show c.258-5109_258-5108insAAAAAAAAAAAAAAAAAAAAAAAA	HACD1	ENSG00000165996.14	transcript	ENST00000361271.8	protein_coding	1/6			chr10	TogoVar
HACD2_chr3_123486554_123590053	123534798	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0309 a0001c0003t0007g0309	1	350	0.0029	24	c.293 others(41): Show c.293-6325_293-6324insCACACACACACACACACACACACA	HACD2	ENSG00000206527.10	transcript	ENST00000383657.10	protein_coding	3/6			chr3	TogoVar
HACD2_chr3_123486554_123590053	123563876	T T	TTTAAGAA others(17): Show TTTAAGAAATGGTGGCTCATTATTA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	350	0.0029	24	c.292 others(41): Show c.292+3862_292+3885dupTAATAATGAGCCACCATTTCTTAA	HACD2	ENSG00000206527.10	transcript	ENST00000383657.10	protein_coding	3/6			chr3	TogoVar
HACD2_chr3_123486554_123590053	123570917	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA19091.hp1 NA18961.hp2 NA19091.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0290 a0001c0003t0003g0291 a0001c0003t0003g0290 a0001c0003t0003g0291	2	350	0.0057	24	c.274 others(41): Show c.274-3161_274-3138dupGTGTGTGTGTGTGTGTGTGTGTGT	HACD2	ENSG00000206527.10	transcript	ENST00000383657.10	protein_coding	2/6			chr3	TogoVar
HACD2_chr3_123486554_123590053	123570943	C C	CACACACA others(17): Show CACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	350	0.0029	24	c.274 others(41): Show c.274-3164_274-3163insATGTGTGTGTGTGTGTGTGTGTGT	HACD2	ENSG00000206527.10	transcript	ENST00000383657.10	protein_coding	2/6			chr3	TogoVar
HACE1_chr6_104723094_104864919	104727475	A A	ATATGTAT others(17): Show ATATGTATATGAATACACACACACG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA21309.hp2 NA18954.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0235 a0001c0005t0001g0318 a0001c0001t0001g0235 a0001c0005t0001g0318	2	346	0.0058	24	c.21 others(35): Show c.2186_*2187insCGTGTGTGTGTATTCATATACATA	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding		618		chr6	TogoVar
HACE1_chr6_104723094_104864919	104727499	A A	ATATGTAT others(17): Show ATATGTATATGAATACACACACACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00609.hp1 HG01074.hp1 others(7): Show HG00099.hp2 HG00609.hp1 HG01074.hp1 HG02145.hp1 NA18747.hp1 NA18948.hp2 NA18969.hp1 NA18987.hp2 NA19009.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 others(7): Show a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0001g0292 a0001c0001t0001g0309 a0001c0001t0001g0315 a0001c0001t0007g0269	10	346	0.0289	24	c.21 others(35): Show c.2162_*2163insCGTGTGTGTGTATTCATATACATA	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding		594		chr6	TogoVar
HACE1_chr6_104723094_104864919	104727682	C C	CATACACA others(17): Show CATACACACGTATGTATATGAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA19064.hp2 NA18990.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0272 a0001c0001t0001g0275	2	346	0.0058	24	c.19 others(35): Show c.1979_*1980insATATTCATATACATACGTGTGTAT	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding		411		chr6	TogoVar
HACE1_chr6_104723094_104864919	104811238	T T	TTATACAT others(17): Show TTATACATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA19010.hp1 NA19090.hp2 others(1): Show HG01167.hp1 NA19010.hp1 NA19090.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0180 a0001c0001t0001g0204 others(1): Show a0001c0001t0001g0158 a0001c0001t0001g0180 a0001c0001t0001g0204 a0001c0001t0001g0205	4	346	0.0116	24	c.617 others(37): Show c.617+72_617+73insTATATATATATATATATATGTATA	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding	7/23			chr6	TogoVar
HACL1_chr3_15555699_15606569	15591885	C C	CGTATATA others(17): Show CGTATATAGTGTATACACTATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0378 a0001c0001t0001g0378	1	428	0.0023	24	c.228 others(39): Show c.228-229_228-206dupATATATAGTGTATACACTATATAC	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HADHB_chr2_26239939_26295465	26285739	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	290	0.0035	24	c.138 others(41): Show c.1389+186_1389+187insTTTTTTTTTTTTTTTTTTTTTTTT	HADHB	ENSG00000138029.14	transcript	ENST00000317799.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAGH_chr16_1802629_1831825	1804244	C C	CTATATAT others(17): Show CTATATATATGTATGTGTGTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0157 a0001c0004t0007g0157	1	436	0.0023	24	c.50 others(35): Show c.5038_*5039insTATATACACACATACATATATATA	HAGH	ENSG00000063854.13	transcript	ENST00000397356.8	protein_coding		3384		chr16	TogoVar
HAGH_chr16_1802629_1831825	1830944	A A	ACACACAC others(17): Show ACACACACACACACACCCACCCACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	436	0.0023	24	c.-41 others(35): Show c.-4158_-4157insGGTGGGTGGGTGTGTGTGTGTGTG	HAGH	ENSG00000063854.13	transcript	ENST00000397356.8	protein_coding		4120		chr16	TogoVar
HAO1_chr20_7877985_7945458	7909360	C C	CATATATA others(17): Show CATATATATATATATATATATATGT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0276 a0001c0001t0002g0276	1	348	0.0029	24	c.546 others(41): Show c.546-3032_546-3031insACATATATATATATATATATATAT	HAO1	ENSG00000101323.5	transcript	ENST00000378789.4	protein_coding	3/7			chr20	TogoVar
HAO1_chr20_7877985_7945458	7915376	A A	AAAGGGGA others(17): Show AAAGGGGAAGGAGAAGGGGAAGAGG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03130.hp2 HG02055.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0130 a0001c0001t0001g0131	2	348	0.0058	24	c.290 others(39): Show c.290-981_290-958dupCCTCTTCCCCTTCTCCTTCCCCTT	HAO1	ENSG00000101323.5	transcript	ENST00000378789.4	protein_coding	2/7			chr20	TogoVar
HAO1_chr20_7877985_7945458	7936503	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG00733.hp2 others(9): Show HG00544.hp1 HG00558.hp1 HG00733.hp2 HG01123.hp1 HG01169.hp1 HG01243.hp2 HG01358.hp1 HG02071.hp1 HG02148.hp2 HG02717.hp1 NA18963.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0068 a0001c0001t0001g0210 a0001c0001t0001g0223 others(9): Show a0001c0001t0001g0068 a0001c0001t0001g0210 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0002g0226	12	348	0.0345	24	c.138 others(41): Show c.138-1892_138-1869dupACACACACACACACACACACACAC	HAO1	ENSG00000101323.5	transcript	ENST00000378789.4	protein_coding	1/7			chr20	TogoVar
HAP1_chr17_41717640_41739643	41737065	G G	GAGGGAGG others(17): Show GAGGGAGGAAGAAAGGAAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01346.hp1 HG01928.hp1 others(18): Show HG01106.hp1 HG01346.hp1 HG01928.hp1 HG01928.hp2 HG01981.hp1 HG02015.hp1 HG02602.hp2 HG02698.hp2 HG02723.hp1 HG02922.hp2 HG02965.hp1 HG03704.hp1 NA18747.hp1 NA18951.hp1 NA18973.hp1 NA18990.hp2 NA19002.hp1 NA19005.hp2 NA19030.hp1 NA19079.hp1 NA19086.hp2	a0001 a0007 a0009 others(3): Show a0001 a0007 a0009 a0033 a0035 a0039	a0001c0001 a0007c0007 a0009c0009 others(3): Show a0001c0001 a0007c0007 a0009c0009 a0033c0026 a0035c0039 a0039c0033	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0007c0007t0002 a0009c0009t0003 a0033c0026t0025 a0035c0039t0001 a0039c0033t0001	a0001c0001t0001g0010 a0001c0001t0001g0192 a0001c0001t0001g0216 others(18): Show a0001c0001t0001g0010 a0001c0001t0001g0192 a0001c0001t0001g0216 a0001c0001t0001g0262 a0001c0001t0001g0268 a0001c0001t0001g0291 a0001c0001t0001g0312 a0001c0001t0001g0333 a0001c0001t0001g0348 a0001c0001t0007g0229 a0001c0001t0007g0318 a0001c0001t0009g0189 a0001c0001t0009g0267 a0001c0001t0009g0296 a0007c0007t0002g0337 a0007c0007t0002g0338 a0007c0007t0002g0339 a0009c0009t0003g0236 a0033c0026t0025g0030 a0035c0039t0001g0283 a0039c0033t0001g0171	21	374	0.0562	24	c.-24 others(35): Show c.-2432_-2431insTCCTTCCTTCCTTTCTTCCTCCCT	HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding		2423		chr17	TogoVar
HAP1_chr17_41717640_41739643	41737065	G G	GAGGGAGG others(17): Show GAGGGAGGAAGGAAGGAAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0003 a0011c0011t0003	a0011c0011t0003g0132 a0011c0011t0003g0132	1	374	0.0027	24	c.-24 others(35): Show c.-2432_-2431insTCCTTCCTTCCTTCCTTCCTCCCT	HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding		2423		chr17	TogoVar
HAPLN1_chr5_83632805_83725855	83661197	C C	CATCTATA others(17): Show CATCTATATCTATATCTATATCTAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01943.hp1 NA18989.hp1 HG01934.hp1 HG01943.hp1 NA18989.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0003 a0004c0005t0003 a0001c0001t0003 a0004c0005t0003	a0001c0001t0003g0073 a0001c0001t0003g0199 a0004c0005t0003g0286 a0001c0001t0003g0073 a0001c0001t0003g0199 a0004c0005t0003g0286	3	372	0.0081	24	c.101 others(41): Show c.101-8397_101-8374dupATAGATATAGATATAGATATAGAT	HAPLN1	ENSG00000145681.11	transcript	ENST00000274341.9	protein_coding	2/4			chr5	TogoVar
HAPSTR1_chr16_9086644_9126635	9088603	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01346.hp2 HG03225.hp2 others(5): Show HG01255.hp2 HG01346.hp2 HG03225.hp2 NA18950.hp2 NA18956.hp2 NA18965.hp1 NA18975.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0019 others(2): Show a0001c0001t0003 a0001c0001t0014 a0001c0001t0019 a0001c0001t0062 a0001c0001t0075	a0001c0001t0003g0003 a0001c0001t0003g0021 a0001c0001t0003g0130 others(5): Show a0001c0001t0003g0003 a0001c0001t0003g0021 a0001c0001t0003g0130 a0001c0001t0003g0135 a0001c0001t0014g0134 a0001c0001t0019g0126 a0001c0001t0062g0045 a0001c0001t0075g0096	8	398	0.0201	24	c.-34 others(35): Show c.-3442_-3441insAAAAAAAAAAAAAAAAAAAAAAAA	HAPSTR1	ENSG00000182831.12	transcript	ENST00000327827.12	protein_coding		3040		chr16	TogoVar
HAT1_chr2_171917461_171988686	171977557	A A	ATATATAT others(17): Show ATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	326	0.0031	24	c.975 others(41): Show c.975+1250_975+1251insATATATATATATATATATATTTTT	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAT1_chr2_171917461_171988686	171977557	A A	ATATATAT others(17): Show ATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	326	0.0031	24	c.975 others(41): Show c.975+1250_975+1251insATATATATATATATATATTTTTTT	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAT1_chr2_171917461_171988686	171977557	A A	ATATATAT others(17): Show ATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	326	0.0031	24	c.975 others(41): Show c.975+1250_975+1251insATATATATATATATATTTTTTTTT	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAT1_chr2_171917461_171988686	171977557	A A	ATATATAT others(17): Show ATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	326	0.0031	24	c.975 others(41): Show c.975+1250_975+1251insATATATATATATATTTTTTTTTTT	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAT1_chr2_171917461_171988686	171977557	A A	ATATATAT others(17): Show ATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	326	0.0031	24	c.975 others(41): Show c.975+1250_975+1251insATATATATATATTTTTTTTTTTTT	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAUS1_chr18_46099385_46133333	46104801	A A	AGCCTCCC others(17): Show AGCCTCCCGGCGCGGCGGGGCTTCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG02486.hp2 others(1): Show HG01884.hp2 HG02257.hp2 HG02486.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(1): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046	4	372	0.0108	24	c.30+ others(37): Show c.30+362_31-368dupCCTCCCGGCGCGGCGGGGCTTCTG	HAUS1	ENSG00000152240.13	transcript	ENST00000282058.11	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
HAUS2_chr15_42543838_42574994	42544842	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0295 a0001c0001t0018g0295	1	350	0.0029	24	c.-40 others(35): Show c.-4031_-4030insTATATATATATATATATATATATA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding		3995		chr15	TogoVar
HAVCR1_chr5_157024413_157064116	157044607	G G	GAAAGAGA others(17): Show GAAAGAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG01981.hp1 others(7): Show HG00423.hp2 HG00597.hp2 HG01981.hp1 HG02970.hp2 HG03831.hp1 NA18941.hp1 NA18941.hp2 NA18979.hp2 NA19064.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0126 others(7): Show a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0137 a0001c0001t0001g0185 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0302	10	352	0.0284	24	c.782 others(41): Show c.782-1926_782-1925insTTCTTTCTTTCTTTCTTTCTCTTT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157044615	G G	GAAAGAAA others(17): Show GAAAGAAAGAAAGAAAGAAAGAGAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0078 a0002c0002t0001g0078	1	352	0.0028	24	c.782 others(41): Show c.782-1934_782-1933insTTCTCTTTCTTTCTTTCTTTCTTT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157057386	G G	GAGAGAGA others(17): Show GAGAGAGAGAGAGGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0338 a0005c0008t0001g0338	1	352	0.0028	24	c.46+ others(37): Show c.46+511_46+512insTTTCTTTCTTTCCTCTCTCTCTCT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	2/8			chr5	TogoVar

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