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
CHAF1B_chr21_36380392_36424015	36389800	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01934.hp1 HG00733.hp2 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0299 a0001c0001t0005g0305 a0001c0001t0005g0299 a0001c0001t0005g0305	2	146	0.0137	22	c.260 others(39): Show c.260-1750_260-1749insTGTGTGTGTGTGTGCGCGCGCG	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHAF1B_chr21_36380392_36424015	36401400	T T	TATATATT others(15): Show TATATATTTTTATATTATACATA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	344	0.0029	22	c.664 others(39): Show c.664-1351_664-1330dupTTTTATATTATACATAATATAT	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHAT_chr10_49609037_49672942	49621861	A A	AGAACCAC others(15): Show AGAACCACATCTGATTAGTGCAG	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18998.hp1 NA18995.hp2 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0104 a0002c0002t0007g0357 a0002c0002t0007g0104 a0002c0002t0007g0357	2	403	0.0050	22	c.699 others(37): Show c.699-214_699-193dupGGAACCACATCTGATTAGTGCA	CHAT	ENSG00000070748.19	transcript	ENST00000337653.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
CHCHD10_chr22_23760834_23772972	23770865	T T	TAAAAAAT others(15): Show TAAAAAATACTAAAATATAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0012 a0001c0005t0001g0012	1	430	0.0023	22	c.-29 others(33): Show c.-2992_-2991insTTTTTATATTTTAGTATTTTTT	CHCHD10	ENSG00000250479.9	transcript	ENST00000484558.3	protein_coding		2894		chr22	TogoVar
CHCHD3_chr7_132779870_133087090	132955173	G G	GGGGTGTG others(15): Show GGGGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19030.hp2 HG02717.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0150 a0001c0001t0001g0152	2	20	0.1000	22	c.369 others(41): Show c.369+19995_369+19996insACACACACACACACACACACCC	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132955173	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp2 HG01071.hp2 others(9): Show HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01123.hp1 HG03017.hp2 NA18948.hp1 NA18954.hp1 NA18994.hp1 NA19001.hp2 NA19002.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0130 others(9): Show a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0130 a0001c0001t0001g0143 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0183 a0001c0001t0001g0300	12	30	0.4000	22	c.369 others(41): Show c.369+19974_369+19995dupACACACACACACACACACACAC	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132963694	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19030.hp2 HG01884.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0150 a0001c0001t0001g0154	2	95	0.0211	22	c.369 others(41): Show c.369+11474_369+11475insGTGTGTGTGTGTGTGTGTGTGT	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD6_chr3_126699240_126965420	126861906	C C	CATCACCA others(15): Show CATCACCACCTCCCCCTTCACTA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	214	0.0047	22	c.495 others(39): Show c.495+9177_495+9198dupATCACCACCTCCCCCTTCACTA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHD1L_chr1_147237684_147300762	147299000	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0027	1	26	0.0385	22	c.34 others(33): Show c.3491_*3492insTTTTTTTTTTTTTTTTTTTTTT	CHD1L	ENSG00000131778.20	transcript	ENST00000369258.8	protein_coding		3239		chr1	TogoVar
CHD1_chr5_98848985_98934007	98911144	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0047 a0001c0001t0015g0047	1	284	0.0035	22	c.54- others(37): Show c.54-6047_54-6046insATATATATATATATATATATAT	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98911146	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03225.hp1 HG02572.hp2 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0061 a0001c0003t0006g0069 a0001c0003t0006g0061 a0001c0003t0006g0069	2	120	0.0167	22	c.54- others(37): Show c.54-6049_54-6048insATATATATATATATATATATTT	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98917299	C C	CCAAAAAA others(15): Show CCAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03225.hp1 HG01884.hp2 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0061 a0001c0003t0006g0072 a0001c0003t0006g0061 a0001c0003t0006g0072	2	102	0.0196	22	c.53+ others(37): Show c.53+9034_53+9035insTTTTTTTTTTTTTTTTTTTTTG	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD3_chr17_7883789_7917755	7885307	C C	CCCGCCGC others(15): Show CCCGCCGCACCCCTCCCCCGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	2	101	0.0198	22	c.-36 others(33): Show c.-3694_-3693insCCGCCGCACCCCTCCCCCGCCG	CHD3	ENSG00000170004.19	transcript	ENST00000330494.12	protein_coding		3481		chr17	TogoVar
CHD3_chr17_7883789_7917755	7891925	T T	TATCAGTT others(15): Show TATCAGTTCAGTGCTCTGGAGGC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02273.hp1 HG02293.hp2 HG01952.hp2 HG02273.hp1 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0192 a0001c0001t0001g0053 a0001c0001t0001g0192	3	364	0.0082	22	c.509 others(37): Show c.509+863_509+884dupTCAGTTCAGTGCTCTGGAGGCA	CHD3	ENSG00000170004.19	transcript	ENST00000330494.12	protein_coding	4/39		INFO_REALIGN_3_PRIME	chr17	TogoVar
CHD4_chr12_6565082_6612379	6600699	C C	CGTTTCAA others(15): Show CGTTTCAAGCCAAGGGGAAAGGA	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0189 a0002c0001t0001g0189	1	372	0.0027	22	c.928 others(35): Show c.928-31_928-30insTCCTTTCCCCTTGGCTTGAAAC	CHD4	ENSG00000111642.16	transcript	ENST00000544040.7	protein_coding	7/39			chr12	TogoVar
CHD5_chr1_6096787_6185321	6132880	T T	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0013 a0001c0010t0013	a0001c0010t0013g0243 a0001c0010t0013g0243	1	163	0.0061	22	c.314 others(41): Show c.3145-1154_3145-1133dupGAGAGAGAGAGAGAGAGAGAGA	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	20/41			chr1	TogoVar
CHD6_chr20_41397083_41623377	41419554	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	27	0.0370	22	c.612 others(39): Show c.6127+932_6127+953dupTTTTTTTTTTTTTTTTTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	31/36			chr20	TogoVar
CHD6_chr20_41397083_41623377	41504077	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA18747.hp1 HG02004.hp1 NA18747.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0007c0012 a0001c0002 a0007c0012	a0001c0002t0001 a0007c0012t0004 a0001c0002t0001 a0007c0012t0004	a0001c0002t0001g0174 a0007c0012t0004g0310 a0001c0002t0001g0174 a0007c0012t0004g0310	2	122	0.0164	22	c.853 others(39): Show c.853-4742_853-4721dupTTTTTTTTTTTTTTTTTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	5/36			chr20	TogoVar
CHD7_chr8_60673740_60873028	60816113	G G	GTCTGTCT others(15): Show GTCTGTCTGTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0011 a0010c0015t0011	a0010c0015t0011g0222 a0010c0015t0011g0222	1	112	0.0089	22	c.249 others(39): Show c.2499-271_2499-270insGTCTGTCTCTCTCTCTCTCTCT	CHD7	ENSG00000171316.14	transcript	ENST00000423902.7	protein_coding	7/37		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHD9_chr16_53049991_53332497	53146413	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0228 a0001c0005t0011g0228	1	228	0.0044	22	c.-16 others(41): Show c.-164-9512_-164-9511insATATATATATATATATATATAT	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53146419	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03098.hp2 HG02886.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0108 a0001c0001t0007g0023 a0001c0001t0001g0108 a0001c0001t0007g0023	2	35	0.0571	22	c.-16 others(41): Show c.-164-9489_-164-9488insTATATATATATATATATATATA	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHDH_chr3_53807335_53851419	53810758	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0005 a0001c0003t0011g0005	1	105	0.0095	22	c.69 others(33): Show c.6997_*7018dupTTTTTTTTTTTTTTTTTTTTTT	CHDH	ENSG00000016391.11	transcript	ENST00000315251.11	protein_coding		1576		chr3	TogoVar
CHL1_chr3_191763_414417	314329	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	66	0.0152	22	c.-94 others(39): Show c.-94-5353_-94-5352insGTATATATATATATATATATAT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHMP2B_chr3_87222309_87260556	87256623	T T	TGTTTTAA others(15): Show TGTTTTAACATGTTAAAACAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG01175.hp1 others(6): Show HG00735.hp2 HG01081.hp2 HG01175.hp1 HG02109.hp1 HG02622.hp1 HG02970.hp2 HG03195.hp2 NA19077.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0003 a0001c0002t0001g0015 a0001c0002t0001g0030 others(2): Show a0001c0001t0002g0003 a0001c0002t0001g0015 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0076	9	412	0.0218	22	c.28 others(33): Show c.2801_*2802insGTTTTAACATGTTAAAACAGAC	CHMP2B	ENSG00000083937.10	transcript	ENST00000263780.9	protein_coding		1068		chr3	TogoVar
CHMP7_chr8_23238637_23266999	23241367	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02004.hp2 NA18747.hp1 HG01109.hp1 HG02004.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0011 a0001c0001t0006 a0001c0001t0011	a0001c0001t0006g0161 a0001c0001t0011g0156 a0001c0001t0011g0171 a0001c0001t0006g0161 a0001c0001t0011g0156 a0001c0001t0011g0171	3	60	0.0500	22	c.-29 others(33): Show c.-2918_-2917insTTTTTTTTTTTTTTTTTTTTTT	CHMP7	ENSG00000147457.14	transcript	ENST00000397677.6	protein_coding		2269		chr8	TogoVar
CHM_chrX_85856180_86052558	85871320	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0111 a0001c0001t0006g0111	1	232	0.0043	22	c.177 others(41): Show c.1770+1731_1770+1732insCTTTTTTTTTTTTTTTTTTTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	14/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85911202	A A	AATATATA others(15): Show AATATATATATATGAATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03139.hp1 HG03195.hp1 HG02922.hp2 HG03139.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087	3	237	0.0127	22	c.124 others(37): Show c.1244+37_1244+58dupATATATATTCATATATATATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85913328	A A	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	236	0.0042	22	c.116 others(41): Show c.1167-1991_1167-1990insCTTTCTTTCTTTCTTTCTTTCT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85913332	A A	AAAAAAAA others(15): Show AAAAAAAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0006 a0005c0009t0006	a0005c0009t0006g0229 a0005c0009t0006g0229	1	45	0.0222	22	c.116 others(41): Show c.1167-1995_1167-1994insCTTTCTTTCTTTCTTTTTTTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85913332	A A	AAAAAAGA others(15): Show AAAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	45	0.0222	22	c.116 others(41): Show c.1167-1995_1167-1994insCTTTCTTTCTTTCTTTCTTTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85913332	A A	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18977.hp1 HG02040.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0154 a0001c0001t0001g0137 a0001c0001t0001g0154	2	46	0.0435	22	c.116 others(41): Show c.1167-1995_1167-1994insCTTTCTTTCTTTCTTTCTTTCT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85949978	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp2 HG03195.hp2 others(2): Show HG01884.hp1 HG02559.hp2 HG03195.hp2 HG03239.hp1 NA19070.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0001c0001t0005 a0004c0008t0004 a0001c0001t0001 a0001c0001t0005 a0004c0008t0004	a0001c0001t0001g0115 a0001c0001t0001g0160 a0001c0001t0001g0165 others(2): Show a0001c0001t0001g0115 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0005g0237 a0004c0008t0004g0223	5	21	0.2381	22	c.116 others(41): Show c.1166+6153_1166+6174dupATATATATATATATATATATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85981206	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp1 HG02258.hp1 others(1): Show HG01109.hp1 HG02109.hp1 HG02258.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0016 a0001c0001t0005 a0001c0001t0007 a0001c0001t0016	a0001c0001t0005g0208 a0001c0001t0007g0231 a0001c0001t0007g0232 others(1): Show a0001c0001t0005g0208 a0001c0001t0007g0231 a0001c0001t0007g0232 a0001c0001t0016g0230	4	183	0.0219	22	c.189 others(37): Show c.189+530_189+531insTATATATATATATATATATATA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	3/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85981206	C C	CTATTTCT others(15): Show CTATTTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	180	0.0056	22	c.189 others(37): Show c.189+530_189+531insTATATATATATATATAGAAATA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	3/14			chrX	TogoVar
CHN1_chr2_174793809_175010381	174847773	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03239.hp1 HG03209.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0184 a0001c0001t0008g0030 a0001c0001t0001g0184 a0001c0001t0008g0030	2	71	0.0282	22	c.550 others(37): Show c.550-838_550-817dupTTTTTTTTTTTTTTTTTTTTTT	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	6/12			chr2	TogoVar
CHN1_chr2_174793809_175010381	174858979	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	115	0.0087	22	c.550 others(41): Show c.550-12044_550-12023dupGTGTGTGTGTGTGTGTGTGTGT	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	6/12			chr2	TogoVar
CHN1_chr2_174793809_175010381	174989016	T T	TAGTAGTA others(15): Show TAGTAGTAAAGTATTCATCTATA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	274	0.0036	22	c.19+ others(39): Show c.19+15877_19+15878insTATAGATGAATACTTTACTACT	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	1/12			chr2	TogoVar
CHN2_chr7_29189775_29519328	29195595	C C	CGAGAGAG others(15): Show CGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01433.hp1 HG01978.hp1 HG01071.hp2 HG01433.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0009 a0001c0001t0008g0007 a0001c0001t0008g0008 a0001c0001t0001g0009 a0001c0001t0008g0007 a0001c0001t0008g0008	3	145	0.0207	22	c.49+ others(35): Show c.49+619_49+640dupAGAGAGAGAGAGAGAGAGAGAG	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29195629	A A	AGAGAGAG others(15): Show AGAGAGAGAGAGAGAGAGAGTGT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0207 a0001c0001t0005g0207	1	119	0.0084	22	c.49+ others(35): Show c.49+640_49+641insAGAGAGAGAGAGAGAGAGTGTG	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29195629	A A	AGAGAGAG others(15): Show AGAGAGAGAGAGAGAGAGTGTGT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01884.hp1 NA18612.hp2 others(1): Show HG00597.hp2 HG01884.hp1 NA18612.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0009 a0001c0002t0002 others(1): Show a0001c0001t0003 a0001c0001t0009 a0001c0002t0002 a0001c0002t0004	a0001c0001t0003g0205 a0001c0001t0009g0201 a0001c0002t0002g0175 others(1): Show a0001c0001t0003g0205 a0001c0001t0009g0201 a0001c0002t0002g0175 a0001c0002t0004g0199	4	122	0.0328	22	c.49+ others(35): Show c.49+640_49+641insAGAGAGAGAGAGAGAGTGTGTG	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29233825	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG03486.hp2 HG01978.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0002 a0001c0001t0005 a0001c0002t0002	a0001c0001t0005g0160 a0001c0002t0002g0174 a0001c0001t0005g0160 a0001c0002t0002g0174	2	47	0.0426	22	c.49+ others(39): Show c.49+38840_49+38861dupTTTTTTTTTTTTTTTTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29252578	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01934.hp2 HG01943.hp1 others(1): Show HG00280.hp2 HG01934.hp2 HG01943.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0006t0002	a0001c0001t0001g0017 a0001c0001t0003g0135 a0001c0001t0006g0198 others(1): Show a0001c0001t0001g0017 a0001c0001t0003g0135 a0001c0001t0006g0198 a0001c0006t0002g0211	4	120	0.0333	22	c.49+ others(39): Show c.49+57595_49+57616dupTTTTTTTTTTTTTTTTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29268283	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA18957.hp1 NA18991.hp1 others(1): Show HG00140.hp2 NA18957.hp1 NA18991.hp1 NA18998.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0002c0004t0001 a0001c0001t0001 a0001c0001t0003 a0002c0004t0001	a0001c0001t0001g0083 a0001c0001t0003g0058 a0001c0001t0003g0185 others(1): Show a0001c0001t0001g0083 a0001c0001t0003g0058 a0001c0001t0003g0185 a0002c0004t0001g0184	4	33	0.1212	22	c.49+ others(39): Show c.49+73311_49+73332dupCACACACACACACACACACACA	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29273353	A A	ATATATAT others(15): Show ATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02129.hp1 HG02071.hp1 HG02129.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0004 a0001c0002t0002 a0002c0003t0004	a0001c0002t0002g0103 a0002c0003t0004g0088 a0001c0002t0002g0103 a0002c0003t0004g0088	2	228	0.0088	22	c.49+ others(39): Show c.49+78382_49+78383insGTGTATATATATATATATATAT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29273767	T T	TTGAATTA others(15): Show TTGAATTAATGGGATTGAATGAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02897.hp2 HG02622.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0047 a0001c0001t0011g0127 a0001c0001t0001g0047 a0001c0001t0011g0127	2	230	0.0087	22	c.49+ others(39): Show c.49+78778_49+78779insGAATTAATGGGATTGAATGAAT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29405164	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02135.hp2 NA19030.hp2 HG00438.hp2 HG02135.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0003 a0001c0002t0014 a0002c0003t0004 a0001c0001t0003 a0001c0002t0014 a0002c0003t0004	a0001c0001t0003g0188 a0001c0002t0014g0059 a0002c0003t0004g0054 a0001c0001t0003g0188 a0001c0002t0014g0059 a0002c0003t0004g0054	3	13	0.2308	22	c.576 others(39): Show c.576+4373_576+4394dupACACACACACACACACACACAC	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29437597	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01167.hp1 NA18942.hp1 others(1): Show HG00438.hp1 HG01167.hp1 NA18942.hp1 NA19000.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0005 a0001c0001t0007 a0001c0002t0004 others(1): Show a0001c0001t0005 a0001c0001t0007 a0001c0002t0004 a0002c0003t0004	a0001c0001t0005g0072 a0001c0001t0007g0003 a0001c0002t0004g0167 others(1): Show a0001c0001t0005g0072 a0001c0001t0007g0003 a0001c0002t0004g0167 a0002c0003t0004g0033	4	163	0.0245	22	c.576 others(41): Show c.576+36785_576+36786insAAAAAAAAAAAAAAAAAAAAAA	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29442934	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01981.hp2 HG02109.hp2 others(4): Show HG01081.hp2 HG01981.hp2 HG02109.hp2 HG02735.hp1 HG02976.hp1 NA19074.hp1 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0002t0002 a0001c0002t0004 a0002c0003t0021	a0001c0001t0001g0138 a0001c0001t0003g0187 a0001c0001t0006g0012 others(4): Show a0001c0001t0001g0138 a0001c0001t0003g0187 a0001c0001t0006g0012 a0001c0001t0008g0070 a0001c0002t0002g0123 a0001c0002t0004g0042 a0002c0003t0021g0116	7	95	0.0737	22	c.577 others(41): Show c.577-37328_577-37327insTTTTTTTTTTTTTTTTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHP2_chr16_23750026_23763935	23759379	C C	CCTCTTTC others(15): Show CCTCTTTCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp2 HG03492.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	387	0.0052	22	c.17 others(33): Show c.1796_*1797insCTCTTTCTTTCTTTCTTTCTTT	CHP2	ENSG00000166869.3	transcript	ENST00000300113.3	protein_coding		445		chr16	TogoVar
CHRDL1_chrX_110668856_110800817	110674457	C C	CCACACAC others(15): Show CCACACACACACACACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0046 a0001c0001t0026g0046	1	46	0.0217	22	c.17 others(33): Show c.1752_*1773dupTGTGTGTGTGTGTGTGTGTGTG	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	12/12	1773		chrX	TogoVar

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