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
HBQ1_chr16_175459_186179	181982	C C	CCACACAC others(15): Show CCACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00733.hp1 others(37): Show HG00408.hp1 HG00408.hp2 HG00733.hp1 HG01099.hp1 HG01106.hp1 HG01243.hp2 HG02071.hp2 HG02257.hp1 HG02647.hp1 HG02683.hp1 HG02723.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03540.hp1 HG03540.hp2 HG04184.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18950.hp1 NA18953.hp1 NA18964.hp2 NA18970.hp1 NA18974.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18990.hp1 NA19006.hp1 NA19056.hp2 NA19059.hp2 NA19066.hp2 NA19068.hp2 NA19078.hp1 NA19089.hp1	a0000 a0001 a0000 a0001	a0000c0008 a0001c0001 a0001c0002 a0000c0008 a0001c0001 a0001c0002	a0000c0008t0004 a0001c0001t0001 a0001c0001t0002 others(1): Show a0000c0008t0004 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0000c0008t0004g0005 a0001c0001t0001g0001 a0001c0001t0002g0001 others(2): Show a0000c0008t0004g0005 a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0002t0001g0001 a0001c0002t0001g0003	40	384	0.1042	22	c.87 others(31): Show c.874_*875insCACACACACACACACACACACA	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		804		chr16	TogoVar
HBQ1_chr16_175459_186179	186170	G G	GGGAGGAA others(15): Show GGGAGGAACAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	22	c.50 others(33): Show c.5062_*5063insGGAGGAACAGCGACACGGGGGA	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4992		chr16	TogoVar
HBZ_chr16_147644_159503	154123	C C	CGGGGCGC others(15): Show CGGGGCGCGGTGCGGGCGGGGGG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	432	0.0023	22	c.300 others(35): Show c.300+30_300+31insGCGCGGTGCGGGCGGGGGGGGG	HBZ	ENSG00000130656.6	transcript	ENST00000252951.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
HCAR2_chr12_122696293_122708357	122704416	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00423.hp2 others(63): Show HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00642.hp2 HG00673.hp1 HG01256.hp1 HG01261.hp1 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG02071.hp1 HG02132.hp1 HG02132.hp2 HG02258.hp1 HG02622.hp2 HG02809.hp1 HG02896.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03209.hp2 HG04184.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp2 NA18945.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18965.hp1 NA18969.hp2 NA18970.hp2 NA18978.hp1 NA18979.hp1 NA18985.hp1 NA18987.hp2 NA18988.hp2 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19067.hp1 NA19075.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0010 a0004c0004 others(1): Show a0001c0001 a0001c0010 a0004c0004 a0007c0006	a0001c0001t0002 a0001c0010t0002 a0004c0004t0004 others(1): Show a0001c0001t0002 a0001c0010t0002 a0004c0004t0004 a0007c0006t0004	a0001c0001t0002g0000 a0001c0010t0002g0000 a0004c0004t0004g0000 others(1): Show a0001c0001t0002g0000 a0001c0010t0002g0000 a0004c0004t0004g0000 a0007c0006t0004g0000	66	428	0.1542	22	c.-11 others(33): Show c.-1134_-1133insAAAAAAAAAAAAAAAAAAAAAA	HCAR2	ENSG00000182782.8	transcript	ENST00000328880.6	protein_coding		1060		chr12	TogoVar
HCFC2_chr12_104059531_104111524	104087468	T T	TATATATA others(15): Show TATATATATATATATGTATATAC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	2	382	0.0052	22	c.123 others(39): Show c.1231+468_1231+469insGTATATACATATATATATATAT	HCFC2	ENSG00000111727.12	transcript	ENST00000229330.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
HCK_chr20_32047242_32106856	32066331	T T	TTTTTTTT others(15): Show TTTTTTTTTTTTTTTTTTTTTGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01891.hp2 HG02572.hp1 others(2): Show HG01167.hp2 HG01891.hp2 HG02572.hp1 HG02622.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0241 a0001c0001t0001g0246 others(2): Show a0001c0001t0001g0232 a0001c0001t0001g0241 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0256	5	290	0.0172	22	c.63- others(37): Show c.63-5331_63-5330insTTTTTTTTTTTTTTTTTTTTGA	HCK	ENSG00000101336.18	transcript	ENST00000375852.5	protein_coding	1/12			chr20	TogoVar
HCK_chr20_32047242_32106856	32094705	A A	AAAGAAAG others(15): Show AAAGAAAGAAAGAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	290	0.0035	22	c.124 others(39): Show c.1246+691_1246+692insGAAAGAAAGAAGAAAGAAAGAA	HCK	ENSG00000101336.18	transcript	ENST00000375852.5	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
HCK_chr20_32047242_32106856	32094781	G G	GAAAGAAA others(15): Show GAAAGAAAGAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA19088.hp1 NA18942.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0131 a0001c0001t0001g0090 a0001c0001t0001g0131	2	290	0.0069	22	c.124 others(39): Show c.1246+766_1246+767insAAGAAAGAAGGAAAGAAAGAAA	HCK	ENSG00000101336.18	transcript	ENST00000375852.5	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
HCN1_chr5_45249948_45701380	45375187	T T	TATATATA others(15): Show TATATATAATATAATATTTTATA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0022 a0001c0001t0027g0022	1	226	0.0044	22	c.123 others(43): Show c.1230+21283_1230+21304dupTATAAAATATTATATTATATAT	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HCN1_chr5_45249948_45701380	45541605	A A	AAAACATG others(15): Show AAAACATGTAAAATACTGAACAG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02055.hp2 HG02257.hp2 others(2): Show HG01433.hp2 HG02055.hp2 HG02257.hp2 HG02897.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0014 a0002c0002t0008 a0002c0002t0014	a0002c0002t0008g0224 a0002c0002t0008g0225 a0002c0002t0008g0226 others(2): Show a0002c0002t0008g0224 a0002c0002t0008g0225 a0002c0002t0008g0226 a0002c0002t0014g0222 a0002c0002t0014g0223	5	226	0.0221	22	c.850 others(41): Show c.850-79620_850-79599dupCTGTTCAGTATTTTACATGTTT	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	2/7			chr5	TogoVar
HCN2_chr19_584881_622159	612393	G G	GGTGGGTG others(15): Show GGTGGGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG04204.hp1 HG02809.hp2 HG04204.hp1	a0002 a0014 a0002 a0014	a0002c0054 a0014c0080 a0002c0054 a0014c0080	a0002c0054t0004 a0014c0080t0004 a0002c0054t0004 a0014c0080t0004	a0002c0054t0004g0250 a0014c0080t0004g0386 a0002c0054t0004g0250 a0014c0080t0004g0386	2	408	0.0049	22	c.158 others(39): Show c.1585-852_1585-851insGGTGTGTGTGTGTGTGTGTGTG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	612427	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGAGA	intron_variant intron_variant	MODIFIER	NA19011.hp1 homoSapiens_chm13v2.hp1 NA19011.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0059 a0001c0001 a0002c0059	a0001c0001t0001 a0002c0059t0004 a0001c0001t0001 a0002c0059t0004	a0001c0001t0001g0081 a0002c0059t0004g0339 a0001c0001t0001g0081 a0002c0059t0004g0339	2	408	0.0049	22	c.158 others(39): Show c.1585-820_1585-819insTGTGTGTGTGTGTGTGTGAGAG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	620966	G G	GGGGCGCG others(15): Show GGGGCGCGGGGGCGCCGGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0018 a0018	a0018c0081 a0018c0081	a0018c0081t0002 a0018c0081t0002	a0018c0081t0002g0398 a0018c0081t0002g0398	1	408	0.0025	22	c.44 others(33): Show c.4492_*4493insGGGCGCGGGGGCGCCGGGGGGA	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding		3808		chr19	TogoVar
HCN2_chr19_584881_622159	620966	G G	GGGGCGCG others(15): Show GGGGCGCGGGGGGCGCCGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG03098.hp1 HG02074.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0002 a0001c0015t0004 a0001c0001t0002 a0001c0015t0004	a0001c0001t0002g0185 a0001c0015t0004g0021 a0001c0001t0002g0185 a0001c0015t0004g0021	2	408	0.0049	22	c.44 others(33): Show c.4492_*4493insGGGCGCGGGGGGCGCCGGGGGA	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding		3808		chr19	TogoVar
HCN2_chr19_584881_622159	620972	C C	CGGGGGCG others(15): Show CGGGGGCGCCGGGGGAGGGCGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 NA18982.hp2 NA19057.hp1 HG01099.hp2 NA18982.hp2 NA19057.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0001c0026 a0002c0010 a0001c0009 a0001c0026 a0002c0010	a0001c0009t0002 a0001c0026t0002 a0002c0010t0002 a0001c0009t0002 a0001c0026t0002 a0002c0010t0002	a0001c0009t0002g0151 a0001c0026t0002g0038 a0002c0010t0002g0319 a0001c0009t0002g0151 a0001c0026t0002g0038 a0002c0010t0002g0319	3	408	0.0074	22	c.44 others(33): Show c.4498_*4499insGGGGGCGCCGGGGGAGGGCGCG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding		3814		chr19	TogoVar
HCN2_chr19_584881_622159	620981	C C	CGGGGGAG others(15): Show CGGGGGAGGGCGCGGGGGCGCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG03669.hp2 HG04115.hp2 HG02602.hp1 HG03669.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0088 a0001c0001 a0001c0013 a0001c0088	a0001c0001t0002 a0001c0013t0002 a0001c0088t0002 a0001c0001t0002 a0001c0013t0002 a0001c0088t0002	a0001c0001t0002g0396 a0001c0013t0002g0197 a0001c0088t0002g0399 a0001c0001t0002g0396 a0001c0013t0002g0197 a0001c0088t0002g0399	3	408	0.0074	22	c.45 others(33): Show c.4507_*4508insGGGGGAGGGCGCGGGGGCGCCG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding		3823		chr19	TogoVar
HCN2_chr19_584881_622159	620993	C C	CGGGGGCG others(15): Show CGGGGGCGCCGGGGGAGGGCGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0210 a0001c0003t0002g0210	1	408	0.0025	22	c.45 others(33): Show c.4519_*4520insGGGGGCGCCGGGGGAGGGCGCG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding		3835		chr19	TogoVar
HCN2_chr19_584881_622159	621014	C C	CGGGGGCG others(15): Show CGGGGGCGCCGGGGGAGGGCGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0372 a0001c0003t0002g0372	1	408	0.0025	22	c.45 others(33): Show c.4540_*4541insGGGGGCGCCGGGGGAGGGCGCG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding		3856		chr19	TogoVar
HCN4_chr15_73314859_73373958	73316249	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01069.hp2 HG00544.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0030 a0001c0001t0011g0004 a0001c0001t0002g0030 a0001c0001t0011g0004	2	344	0.0058	22	c.62 others(33): Show c.6231_*6232insTATATATATATATATATATATA	HCN4	ENSG00000138622.4	transcript	ENST00000261917.4	protein_coding		3609		chr15	TogoVar
HCN4_chr15_73314859_73373958	73316252	A A	AATATATA others(15): Show AATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00438.hp2 others(18): Show HG00280.hp2 HG00423.hp1 HG00438.hp2 HG01106.hp2 HG02165.hp2 HG02451.hp1 HG02559.hp1 HG02698.hp2 HG02809.hp1 HG02886.hp2 HG03041.hp2 HG03688.hp1 HG03704.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18953.hp2 NA18970.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0009 a0001c0009t0014	a0001c0001t0001g0246 a0001c0001t0002g0002 a0001c0001t0002g0023 others(17): Show a0001c0001t0001g0246 a0001c0001t0002g0002 a0001c0001t0002g0023 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0035 a0001c0001t0002g0066 a0001c0001t0002g0088 a0001c0001t0002g0181 a0001c0001t0002g0195 a0001c0001t0002g0201 a0001c0001t0002g0210 a0001c0001t0002g0228 a0001c0003t0001g0009 a0001c0003t0001g0061 a0001c0003t0001g0069 a0001c0003t0009g0238 a0001c0009t0014g0263	21	344	0.0611	22	c.62 others(33): Show c.6228_*6229insATATATATATATATATATATAT	HCN4	ENSG00000138622.4	transcript	ENST00000261917.4	protein_coding		3606		chr15	TogoVar
HCRTR2_chr6_55169515_55287617	55245469	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02615.hp2 HG03654.hp1 others(6): Show HG02293.hp2 HG02615.hp2 HG03654.hp1 NA18949.hp2 NA18952.hp2 NA19003.hp2 NA19007.hp1 NA19043.hp2 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0015 a0001c0001t0001g0036 a0001c0001t0001g0037 others(6): Show a0001c0001t0001g0015 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0061 a0001c0001t0001g0073 a0001c0001t0001g0268 a0001c0001t0001g0287 a0001c0001t0001g0293 a0002c0002t0001g0005	9	368	0.0245	22	c.224 others(39): Show c.224-3154_224-3133dupATATATATATATATATATATAT	HCRTR2	ENSG00000137252.10	transcript	ENST00000370862.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
HCRTR2_chr6_55169515_55287617	55274239	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0101 a0001c0003t0002g0101	1	368	0.0027	22	c.763 others(39): Show c.763-3123_763-3122insTATATATATATATATATATATA	HCRTR2	ENSG00000137252.10	transcript	ENST00000370862.4	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
HDAC9_chr7_18490749_19007416	18568026	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01891.hp2 HG01175.hp1 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0005 a0001c0001t0002 a0001c0005t0005	a0001c0001t0002g0085 a0001c0005t0005g0106 a0001c0001t0002g0085 a0001c0005t0005g0106	2	156	0.0128	22	c.23- others(39): Show c.23-17254_23-17253insGTATATATATATATATATATAT	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18618726	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0125 a0001c0001t0009g0125	1	156	0.0064	22	c.665 others(41): Show c.665-10610_665-10589dupATATATATATATATATATATAT	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18719331	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02602.hp2 HG02683.hp1 others(4): Show HG01169.hp2 HG02602.hp2 HG02683.hp1 HG02818.hp1 NA18971.hp1 NA18984.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0028 a0001c0002t0002 others(4): Show a0001c0001t0005 a0001c0001t0028 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0011 a0001c0002t0032	a0001c0001t0005g0120 a0001c0001t0028g0069 a0001c0002t0002g0084 others(4): Show a0001c0001t0005g0120 a0001c0001t0028g0069 a0001c0002t0002g0084 a0001c0002t0003g0098 a0001c0002t0004g0102 a0001c0002t0011g0026 a0001c0002t0032g0018	7	156	0.0449	22	c.173 others(41): Show c.1732-8244_1732-8223dupTTTTTTTTTTTTTTTTTTTTTT	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	12/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18732894	C C	CACACACA others(15): Show CACACACACGTGTGCGTATGTGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0058 a0001c0004t0014g0058	1	156	0.0064	22	c.190 others(41): Show c.1909+5139_1909+5160dupCACACACGTGTGCGTATGTGTA	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18732896	C C	CACACACG others(15): Show CACACACGTGTGCGTATGTGTAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01071.hp1 HG01169.hp1 others(9): Show HG00738.hp1 HG01071.hp1 HG01169.hp1 HG02027.hp2 HG02129.hp1 HG02145.hp1 HG02896.hp1 HG03669.hp2 HG04115.hp1 NA18939.hp1 NA18970.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0029 a0001c0001t0033 a0001c0001t0050	a0001c0001t0002g0090 a0001c0001t0003g0130 a0001c0001t0003g0134 others(9): Show a0001c0001t0002g0090 a0001c0001t0003g0130 a0001c0001t0003g0134 a0001c0001t0004g0011 a0001c0001t0004g0089 a0001c0001t0004g0117 a0001c0001t0005g0076 a0001c0001t0007g0151 a0001c0001t0010g0103 a0001c0001t0029g0068 a0001c0001t0033g0119 a0001c0001t0050g0062	12	156	0.0769	22	c.190 others(41): Show c.1909+5151_1909+5172dupCGTATGTGTATACACACGTGTG	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18732908	C C	CGTATGTG others(15): Show CGTATGTGTACACACACGTGTGT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0048 a0001c0001t0006g0048	1	156	0.0064	22	c.190 others(41): Show c.1909+5160_1909+5161insCACACACGTGTGTGTATGTGTA	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18789286	G G	GCGCGCAC others(15): Show GCGCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	156	0.0064	22	c.221 others(41): Show c.2215-4058_2215-4057insGCGCACACACACACACACACAC	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18857335	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02965.hp1 HG03471.hp2 others(1): Show HG02886.hp2 HG02965.hp1 HG03471.hp2 HG06807.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0012 a0001c0004t0026 others(1): Show a0001c0004t0006 a0001c0004t0012 a0001c0004t0026 a0001c0004t0055	a0001c0004t0006g0053 a0001c0004t0012g0023 a0001c0004t0026g0043 others(1): Show a0001c0004t0006g0053 a0001c0004t0012g0023 a0001c0004t0026g0043 a0001c0004t0055g0144	4	156	0.0256	22	c.268 others(43): Show c.2685-17135_2685-17114dupGTGTGTGTGTGTGTGTGTGTGT	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18932864	G G	GAAAGAAA others(15): Show GAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0055 a0001c0004t0055	a0001c0004t0055g0144 a0001c0004t0055g0144	1	156	0.0064	22	c.280 others(41): Show c.2804-2929_2804-2928insAAAGAAAAAGAAAGAAAGAAAG	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	22/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDDC2_chr6_125270350_125306967	125301442	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01099.hp2 HG01975.hp1 others(2): Show HG00558.hp2 HG01099.hp2 HG01975.hp1 HG01993.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	5	374	0.0134	22	c.84+ others(35): Show c.84+385_84+406dupGTGTGTGTGTGTGTGTGTGTGT	HDDC2	ENSG00000111906.18	transcript	ENST00000398153.7	protein_coding	1/5			chr6	TogoVar
HDGFL3_chr15_83122753_83212823	83198054	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0096 a0001c0001t0018g0096	1	246	0.0041	22	c.84+ others(37): Show c.84+9276_84+9277insTTTTTTTTTTTTTTTTTTTTTT	HDGFL3	ENSG00000166503.9	transcript	ENST00000299633.7	protein_coding	1/5			chr15	TogoVar
HDHD3_chr9_113368422_113381986	113381760	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02602.hp2 HG02922.hp2 others(2): Show HG02258.hp1 HG02602.hp2 HG02922.hp2 HG03579.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0070 a0001c0001t0001g0001 a0001c0001t0001g0070	5	464	0.0108	22	c.-53 others(33): Show c.-5323_-5322insAAAAAAAAAAAAAAAAAAAAAA	HDHD3	ENSG00000119431.10	transcript	ENST00000374180.4	protein_coding		4775		chr9	TogoVar
HDHD5_chr22_17132520_17164277	17157076	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0246 a0001c0004t0001g0246	1	422	0.0024	22	c.126 others(39): Show c.126+2049_126+2050insTGTGTGTGTGTGTGTGTGTGTG	HDHD5	ENSG00000069998.12	transcript	ENST00000336737.8	protein_coding	1/7			chr22	TogoVar
HDHD5_chr22_17132520_17164277	17157085	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG03942.hp2 HG01981.hp2 HG03942.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0242 a0001c0004t0001g0243 a0001c0004t0001g0242 a0001c0004t0001g0243	2	422	0.0047	22	c.126 others(39): Show c.126+2019_126+2040dupGTGTGTGTGTGTGTGTGTGTGT	HDHD5	ENSG00000069998.12	transcript	ENST00000336737.8	protein_coding	1/7			chr22	TogoVar
HEATR4_chr14_73473484_73563947	73506804	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02074.hp2 HG04184.hp1 others(10): Show HG00597.hp1 HG02074.hp2 HG04184.hp1 NA18747.hp2 NA18939.hp1 NA18973.hp1 NA18977.hp2 NA19007.hp2 NA19067.hp2 NA19082.hp1 NA19086.hp2 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 a0001c0009t0005	a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0002t0002g0206 others(10): Show a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0002t0002g0206 a0001c0002t0002g0282 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0301 a0001c0002t0002g0310 a0001c0002t0002g0316 a0001c0002t0008g0037 a0001c0009t0005g0004	13	368	0.0353	22	c.188 others(39): Show c.1882-234_1882-233insAAAAAAAAAAAAAAAAAAAAAA	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	9/17			chr14	TogoVar
HEATR4_chr14_73473484_73563947	73509866	A A	ATATATTT others(15): Show ATATATTTATATATTTATTTATT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0200 a0002c0005t0003g0200	1	368	0.0027	22	c.155 others(39): Show c.1559-394_1559-393insAATAAATAAATATATAAATATA	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	7/17			chr14	TogoVar
HEATR4_chr14_73473484_73563947	73524310	A A	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0328 a0001c0001t0004g0328	1	368	0.0027	22	c.-72 others(39): Show c.-72-1087_-72-1086insATATATATATATATATTTTTTT	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	2/17			chr14	TogoVar
HEATR5A_chr14_31286788_31425550	31422100	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 NA19004.hp2 HG02083.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0283 a0001c0001t0001g0284	2	354	0.0057	22	c.-17 others(33): Show c.-1704_-1703insCACACACACACACACACACACA	HEATR5A	ENSG00000129493.15	transcript	ENST00000543095.7	protein_coding		1551		chr14	TogoVar
HEATR5B_chr2_36975895_37089372	36982863	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0001 a0001c0030t0001	a0001c0030t0001g0092 a0001c0030t0001g0092	1	314	0.0032	22	c.591 others(41): Show c.5912-1091_5912-1070dupGTGTGTGTGTGTGTGTGTGTGT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA19074.hp1 NA18959.hp2 NA19074.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0049 a0002c0003t0002g0050 a0002c0003t0002g0049 a0002c0003t0002g0050	2	314	0.0064	22	c.591 others(41): Show c.5912-2422_5912-2421insATTTTTTTTTTTTTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18982.hp2 NA19070.hp2 NA18964.hp1 NA18982.hp2 NA19070.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0051 a0002c0003t0002g0167 a0002c0003t0002g0173 a0002c0003t0002g0051 a0002c0003t0002g0167 a0002c0003t0002g0173	3	314	0.0096	22	c.591 others(41): Show c.5912-2422_5912-2421insATATTTTTTTTTTTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0238 a0001c0002t0001g0238	1	314	0.0032	22	c.591 others(41): Show c.5912-2422_5912-2421insATATATTTTTTTTTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18946.hp2 NA18952.hp2 others(4): Show HG02523.hp1 NA18946.hp2 NA18952.hp2 NA18961.hp2 NA18963.hp2 NA18973.hp2 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0231 a0001c0002t0001g0236 a0001c0002t0001g0239 others(4): Show a0001c0002t0001g0231 a0001c0002t0001g0236 a0001c0002t0001g0239 a0001c0002t0001g0246 a0001c0002t0001g0251 a0001c0002t0001g0254 a0001c0002t0001g0255	7	314	0.0223	22	c.591 others(41): Show c.5912-2422_5912-2421insATATATATTTTTTTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18959.hp1 HG02083.hp1 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0216 a0001c0002t0001g0232 a0001c0002t0001g0216 a0001c0002t0001g0232	2	314	0.0064	22	c.591 others(41): Show c.5912-2422_5912-2421insATATATATATTTTTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	37037145	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG02965.hp1 others(3): Show HG01070.hp1 HG01071.hp2 HG02965.hp1 HG03098.hp1 HG03209.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0001 a0002c0003t0001 a0002c0003t0003 a0001c0004t0001 a0002c0003t0001 a0002c0003t0003	a0001c0004t0001g0065 a0001c0004t0001g0066 a0002c0003t0001g0183 others(3): Show a0001c0004t0001g0065 a0001c0004t0001g0066 a0002c0003t0001g0183 a0002c0003t0001g0184 a0002c0003t0003g0005 a0002c0003t0003g0006	6	314	0.0191	22	c.321 others(39): Show c.3216+709_3216+710insATATATATATATATATATATAT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	21/35			chr2	TogoVar
HEATR6_chr17_60036008_60083921	60049122	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0017 a0005c0005t0017	a0005c0005t0017g0214 a0005c0005t0017g0214	1	250	0.0040	22	c.254 others(39): Show c.2547+436_2547+457dupACACACACACACACACACACAC	HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	16/19			chr17	TogoVar
HEBP1_chr12_12969870_13005265	12987590	T T	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	396	0.0025	22	c.218 others(37): Show c.218-259_218-258insGAGAGAGAGAGAGAGAGAGAGA	HEBP1	ENSG00000013583.10	transcript	ENST00000014930.9	protein_coding	2/3			chr12	TogoVar
HECA_chr6_139130080_139185802	139152418	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp1 HG01070.hp2 others(10): Show HG00140.hp1 HG00609.hp1 HG01070.hp2 HG01884.hp2 HG02523.hp1 HG03654.hp2 HG03942.hp1 HG04199.hp1 NA18612.hp1 NA18974.hp2 NA18989.hp2 NA19010.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0024 a0001c0002t0003 a0001c0002t0010 a0001c0001t0024 a0001c0002t0003 a0001c0002t0010	a0001c0001t0024g0127 a0001c0002t0003g0011 a0001c0002t0003g0044 others(8): Show a0001c0001t0024g0127 a0001c0002t0003g0011 a0001c0002t0003g0044 a0001c0002t0003g0048 a0001c0002t0003g0049 a0001c0002t0003g0050 a0001c0002t0003g0118 a0001c0002t0003g0119 a0001c0002t0003g0204 a0001c0002t0010g0058 a0001c0002t0010g0115	13	314	0.0414	22	c.272 others(41): Show c.272-13860_272-13839dupGTGTGTGTGTGTGTGTGTGTGT	HECA	ENSG00000112406.5	transcript	ENST00000367658.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar

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