Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DMAC1_chr9_7791500_7804778	7799994	G G	GCCCCCCC others(8): Show GCCCCCCCCCGCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA19001.hp2 NA19081.hp1 NA18964.hp1 NA19001.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0004 a0001c0001t0006g0009 a0001c0001t0002g0004 a0001c0001t0006g0009	3	474	0.0063	15	c.-26 others(24): Show c.-261_-260insGGGGGCGGGGGGGGG	DMAC1	ENSG00000137038.8	transcript	ENST00000358227.5	protein_coding		217		chr9	TogoVar
DMAC1_chr9_7791500_7804778	7799994	G G	GCCCCCCC others(8): Show GCCCCCCCCGCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	474	0.0021	15	c.-26 others(24): Show c.-261_-260insGGGGGGCGGGGGGGG	DMAC1	ENSG00000137038.8	transcript	ENST00000358227.5	protein_coding		217		chr9	TogoVar
DMAC2_chr19_41426318_41444912	41432674	G G	GTGTGTGG others(8): Show GTGTGTGGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0149 a0002c0002t0001g0149	1	426	0.0024	15	c.597 others(30): Show c.597-267_597-266insTACACACACCACACA	DMAC2	ENSG00000105341.19	transcript	ENST00000221943.14	protein_coding	5/5			chr19	TogoVar
DMBT1_chr10_122555754_122648736	122634401	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	282	0.0036	15	c.654 others(34): Show c.6548+1062_6548+1063insCTTTCTTTCTTTCTT	DMBT1	ENSG00000187908.20	transcript	ENST00000338354.10	protein_coding	52/55		INFO_REALIGN_3_PRIME	chr10	TogoVar
DMD_chrX_31114222_33216549	31141201	A A	AAACAACA others(8): Show AAACAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0010 a0003c0014t0010	a0003c0014t0010g0015 a0003c0014t0010g0015	1	126	0.0079	15	c.109 others(36): Show c.10921+5075_10921+5089dupGTTGTTGTTGTTGTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	76/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31214937	C C	CTTTTTTC others(8): Show CTTTTTTCTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02135.hp1 HG02486.hp1 others(6): Show HG01433.hp1 HG02135.hp1 HG02486.hp1 HG02647.hp1 HG02738.hp1 NA18943.hp1 NA18990.hp1 NA19000.hp1 NA19012.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0007	a0001c0002 a0002c0005 a0002c0016 others(6): Show a0001c0002 a0002c0005 a0002c0016 a0003c0003 a0003c0014 a0003c0062 a0004c0004 a0006c0006 a0007c0018	a0001c0002t0001 a0002c0005t0007 a0002c0016t0009 others(6): Show a0001c0002t0001 a0002c0005t0007 a0002c0016t0009 a0003c0003t0001 a0003c0014t0001 a0003c0062t0001 a0004c0004t0001 a0006c0006t0001 a0007c0018t0001	a0001c0002t0001g0025 a0002c0005t0007g0092 a0002c0016t0009g0014 others(6): Show a0001c0002t0001g0025 a0002c0005t0007g0092 a0002c0016t0009g0014 a0003c0003t0001g0050 a0003c0014t0001g0059 a0003c0062t0001g0078 a0004c0004t0001g0041 a0006c0006t0001g0001 a0007c0018t0001g0068	9	126	0.0714	15	c.936 others(34): Show c.9362-5239_9362-5238insAAAAAAAAGAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	64/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31266159	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02895.hp1 HG02145.hp1 HG02895.hp1	a0002 a0029 a0002 a0029	a0002c0059 a0029c0044 a0002c0059 a0029c0044	a0002c0059t0012 a0029c0044t0014 a0002c0059t0012 a0029c0044t0014	a0002c0059t0012g0055 a0029c0044t0014g0094 a0002c0059t0012g0055 a0029c0044t0014g0094	2	126	0.0159	15	c.922 others(34): Show c.9225-5158_9225-5144dupTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	62/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31284557	T T	TTTCTTCT others(8): Show TTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01069.hp1 HG01358.hp1 others(12): Show HG00280.hp1 HG01069.hp1 HG01358.hp1 HG02027.hp1 HG03225.hp1 HG03492.hp1 HG03654.hp1 NA18612.hp1 NA18959.hp1 NA18977.hp1 NA18984.hp1 NA19060.hp1 NA19068.hp1 NA19085.hp1 NA20805.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0006 a0014 a0015 a0023 a0031 a0034	a0001c0001 a0001c0002 a0001c0054 others(9): Show a0001c0001 a0001c0002 a0001c0054 a0002c0005 a0003c0003 a0003c0014 a0006c0032 a0014c0017 a0015c0043 a0023c0041 a0031c0047 a0034c0030	a0001c0001t0013 a0001c0001t0026 a0001c0002t0001 others(11): Show a0001c0001t0013 a0001c0001t0026 a0001c0002t0001 a0001c0002t0013 a0001c0054t0001 a0002c0005t0002 a0003c0003t0001 a0003c0014t0010 a0006c0032t0003 a0014c0017t0001 a0015c0043t0001 a0023c0041t0001 a0031c0047t0005 a0034c0030t0003	a0001c0001t0013g0012 a0001c0001t0026g0039 a0001c0002t0001g0115 others(12): Show a0001c0001t0013g0012 a0001c0001t0026g0039 a0001c0002t0001g0115 a0001c0002t0013g0097 a0001c0054t0001g0100 a0002c0005t0002g0020 a0003c0003t0001g0033 a0003c0003t0001g0067 a0003c0014t0010g0015 a0006c0032t0003g0077 a0014c0017t0001g0114 a0015c0043t0001g0112 a0023c0041t0001g0046 a0031c0047t0005g0081 a0034c0030t0003g0029	15	126	0.1191	15	c.922 others(36): Show c.9225-23556_9225-23542dupGAAGAAGAAGAAGAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	62/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31289251	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0010 a0010	a0010c0051 a0010c0051	a0010c0051t0011 a0010c0051t0011	a0010c0051t0011g0121 a0010c0051t0011g0121	1	126	0.0079	15	c.922 others(36): Show c.9225-28236_9225-28235insTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	62/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31473720	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA18994.hp1 HG01255.hp1 NA18994.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0012 a0001c0002 a0002c0012	a0001c0002t0001 a0002c0012t0002 a0001c0002t0001 a0002c0012t0002	a0001c0002t0001g0088 a0002c0012t0002g0122 a0001c0002t0001g0088 a0002c0012t0002g0122	2	126	0.0159	15	c.893 others(34): Show c.8937+4385_8937+4386insCTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	59/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31511235	T T	TATATAAT others(8): Show TATATAATATAATATA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02257.hp2 HG02738.hp1 others(4): Show HG01255.hp1 HG02257.hp2 HG02738.hp1 HG02922.hp1 HG02976.hp1 NA18612.hp1 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0034	a0001c0002 a0002c0009 a0002c0012 others(4): Show a0001c0002 a0002c0009 a0002c0012 a0003c0003 a0003c0008 a0005c0007 a0034c0030	a0001c0002t0001 a0002c0009t0002 a0002c0012t0002 others(4): Show a0001c0002t0001 a0002c0009t0002 a0002c0012t0002 a0003c0003t0001 a0003c0008t0023 a0005c0007t0002 a0034c0030t0003	a0001c0002t0001g0025 a0002c0009t0002g0002 a0002c0012t0002g0122 others(4): Show a0001c0002t0001g0025 a0002c0009t0002g0002 a0002c0012t0002g0122 a0003c0003t0001g0027 a0003c0008t0023g0005 a0005c0007t0002g0093 a0034c0030t0003g0029	7	126	0.0556	15	c.821 others(34): Show c.8218-3783_8218-3782insTATATTATATTATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31559640	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG03579.hp1 NA20905.hp1 HG01515.hp1 HG03579.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0012 a0003c0003 a0001c0002 a0002c0012 a0003c0003	a0001c0002t0002 a0002c0012t0002 a0003c0003t0001 a0001c0002t0002 a0002c0012t0002 a0003c0003t0001	a0001c0002t0002g0056 a0002c0012t0002g0098 a0003c0003t0001g0027 a0001c0002t0002g0056 a0002c0012t0002g0098 a0003c0003t0001g0027	3	126	0.0238	15	c.821 others(36): Show c.8218-52202_8218-52188dupTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31816822	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0087 a0004c0004t0001g0087	1	126	0.0079	15	c.730 others(34): Show c.7309+3152_7309+3153insGTGTGTGTGTGTGTG	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	50/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31822653	G G	GGGTGTGT others(8): Show GGGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02293.hp1 HG02293.hp2 others(1): Show HG01934.hp1 HG02293.hp1 HG02293.hp2 NA19007.hp1	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0009 a0002c0016 a0004c0004 others(1): Show a0002c0009 a0002c0016 a0004c0004 a0005c0023	a0002c0009t0001 a0002c0016t0001 a0004c0004t0001 others(1): Show a0002c0009t0001 a0002c0016t0001 a0004c0004t0001 a0005c0023t0020	a0002c0009t0001g0065 a0002c0016t0001g0060 a0004c0004t0001g0087 others(1): Show a0002c0009t0001g0065 a0002c0016t0001g0060 a0004c0004t0001g0087 a0005c0023t0020g0110	4	126	0.0318	15	c.720 others(34): Show c.7201-2571_7201-2570insACACACACACACACC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	49/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31822653	G G	GTGTGTGT others(8): Show GTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0067 a0003c0003t0001g0067	1	126	0.0079	15	c.720 others(34): Show c.7201-2571_7201-2570insACACACACACACACA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	49/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32013093	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0018 a0018	a0018c0061 a0018c0061	a0018c0061t0001 a0018c0061t0001	a0018c0061t0001g0003 a0018c0061t0001g0003	1	126	0.0079	15	c.643 others(36): Show c.6439-44580_6439-44579insAAAAAAAAAAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32050974	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0007 a0007	a0007c0019 a0007c0019	a0007c0019t0001 a0007c0019t0001	a0007c0019t0001g0052 a0007c0019t0001g0052	1	126	0.0079	15	c.643 others(36): Show c.6439-82461_6439-82460insAAAAAAAAAAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32199780	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0010 a0010	a0010c0051 a0010c0051	a0010c0051t0011 a0010c0051t0011	a0010c0051t0011g0121 a0010c0051t0011g0121	1	126	0.0079	15	c.643 others(36): Show c.6438+17135_6438+17136insCACACACACACACAC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32292302	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0005 a0005	a0005c0057 a0005c0057	a0005c0057t0001 a0005c0057t0001	a0005c0057t0001g0109 a0005c0057t0001g0109	1	126	0.0079	15	c.611 others(34): Show c.6118-4616_6118-4602dupAAAAAAAAAAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	42/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32312942	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18990.hp1 NA18977.hp1 NA18990.hp1	a0002 a0003 a0002 a0003	a0002c0016 a0003c0003 a0002c0016 a0003c0003	a0002c0016t0009 a0003c0003t0001 a0002c0016t0009 a0003c0003t0001	a0002c0016t0009g0014 a0003c0003t0001g0067 a0002c0016t0009g0014 a0003c0003t0001g0067	2	126	0.0159	15	c.592 others(34): Show c.5923-2681_5923-2667dupTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	41/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32360800	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02293.hp2 HG02717.hp1 others(5): Show HG02257.hp2 HG02293.hp2 HG02717.hp1 HG02976.hp1 HG03225.hp1 HG03486.hp1 HG04115.hp1 HG04199.hp1	a0002 a0003 a0005 others(3): Show a0002 a0003 a0005 a0008 a0009 a0012	a0002c0009 a0003c0008 a0003c0014 others(4): Show a0002c0009 a0003c0008 a0003c0014 a0005c0053 a0008c0010 a0009c0013 a0012c0048	a0002c0009t0001 a0002c0009t0002 a0003c0008t0023 others(5): Show a0002c0009t0001 a0002c0009t0002 a0003c0008t0023 a0003c0014t0010 a0005c0053t0004 a0008c0010t0009 a0009c0013t0022 a0012c0048t0001	a0002c0009t0001g0065 a0002c0009t0002g0002 a0003c0008t0023g0005 others(5): Show a0002c0009t0001g0065 a0002c0009t0002g0002 a0003c0008t0023g0005 a0003c0014t0010g0015 a0005c0053t0004g0103 a0008c0010t0009g0004 a0009c0013t0022g0066 a0012c0048t0001g0057	8	126	0.0635	15	c.532 others(34): Show c.5325+1973_5325+1987dupATTATTATTATTATT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	37/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32388341	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0032 a0032	a0032c0036 a0032c0036	a0032c0036t0004 a0032c0036t0004	a0032c0036t0004g0011 a0032c0036t0004g0011	1	126	0.0079	15	c.451 others(34): Show c.4518+1159_4518+1160insAAAAAAAAAAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	32/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32418972	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0023 a0003c0008t0023	a0003c0008t0023g0005 a0003c0008t0023g0005	1	126	0.0079	15	c.407 others(34): Show c.4072-7074_4072-7060dupTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	29/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32452439	G G	GGGAAAGG others(8): Show GGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG04115.hp1 HG02257.hp2 HG04115.hp1	a0003 a0009 a0003 a0009	a0003c0008 a0009c0013 a0003c0008 a0009c0013	a0003c0008t0023 a0009c0013t0022 a0003c0008t0023 a0009c0013t0022	a0003c0008t0023g0005 a0009c0013t0022g0066 a0003c0008t0023g0005 a0009c0013t0022g0066	2	126	0.0159	15	c.360 others(34): Show c.3603+2208_3603+2222dupTTTCCTTTCCTTTCC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	26/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32485734	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0065 a0002c0009t0001g0065	1	126	0.0079	15	c.262 others(32): Show c.2623-650_2623-636dupAAAAAAAAAAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	20/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32554924	A A	AGGAAAGG others(8): Show AGGAAAGGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0038 a0001c0001t0016g0038	1	126	0.0079	15	c.199 others(34): Show c.1993-9591_1993-9590insCTTTCTTTCCTTTCC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	16/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32558944	T T	TTTTTTTT others(8): Show TTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0012 a0003c0008t0012	a0003c0008t0012g0117 a0003c0008t0012g0117	1	126	0.0079	15	c.199 others(34): Show c.1992+6757_1992+6758insGAAAAAAAAAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	16/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32558945	T T	TTTTTTTT others(8): Show TTTTTTTTTTTTTTCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19043.hp1 HG02922.hp1 NA19043.hp1	a0005 a0010 a0005 a0010	a0005c0007 a0010c0031 a0005c0007 a0010c0031	a0005c0007t0002 a0010c0031t0001 a0005c0007t0002 a0010c0031t0001	a0005c0007t0002g0093 a0010c0031t0001g0096 a0005c0007t0002g0093 a0010c0031t0001g0096	2	126	0.0159	15	c.199 others(34): Show c.1992+6756_1992+6757insGGAAAAAAAAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	16/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32585699	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA18955.hp1 HG02257.hp1 NA18955.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0011 a0001c0001 a0004c0011	a0001c0001t0004 a0004c0011t0001 a0001c0001t0004 a0004c0011t0001	a0001c0001t0004g0101 a0004c0011t0001g0085 a0001c0001t0004g0101 a0004c0011t0001g0085	2	126	0.0159	15	c.160 others(36): Show c.1602+10043_1602+10057dupTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	13/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32628258	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02451.hp2 HG01928.hp1 HG02451.hp2	a0001 a0002 a0001 a0002	a0001c0022 a0002c0024 a0001c0022 a0002c0024	a0001c0022t0001 a0002c0024t0011 a0001c0022t0001 a0002c0024t0011	a0001c0022t0001g0036 a0002c0024t0011g0016 a0001c0022t0001g0036 a0002c0024t0011g0016	2	126	0.0159	15	c.133 others(36): Show c.1332-13820_1332-13806dupAAAAAAAAAAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	11/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32649558	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0011 a0002c0024t0011	a0002c0024t0011g0016 a0002c0024t0011g0016	1	126	0.0079	15	c.961 others(32): Show c.961-4407_961-4406insTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	9/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32679902	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0002 a0002c0009t0002g0002	1	126	0.0079	15	c.960 others(34): Show c.960+17953_960+17967dupAAAAAAAAAAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	9/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32879007	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0009 a0002c0016t0009	a0002c0016t0009g0014 a0002c0016t0009g0014	1	126	0.0079	15	c.94- others(32): Show c.94-29188_94-29187insTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32883823	C C	CCAAAAAA others(8): Show CCAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0052 a0002c0052	a0002c0052t0025 a0002c0052t0025	a0002c0052t0025g0095 a0002c0052t0025g0095	1	126	0.0079	15	c.94- others(32): Show c.94-34004_94-34003insTTTTTTTTTTTTTTG	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32887745	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0023 a0023	a0023c0041 a0023c0041	a0023c0041t0001 a0023c0041t0001	a0023c0041t0001g0046 a0023c0041t0001g0046	1	126	0.0079	15	c.94- others(32): Show c.94-37940_94-37926dupTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32964255	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp1 HG01069.hp1 others(6): Show HG00609.hp1 HG00621.hp1 HG01069.hp1 HG01192.hp1 HG01258.hp1 HG02129.hp1 HG02132.hp1 NA19005.hp1 NA19043.hp1	a0001 a0004 a0006 others(5): Show a0001 a0004 a0006 a0007 a0010 a0020 a0021 a0023	a0001c0001 a0004c0055 a0006c0006 others(5): Show a0001c0001 a0004c0055 a0006c0006 a0007c0019 a0010c0031 a0020c0034 a0021c0035 a0023c0041	a0001c0001t0001 a0004c0055t0001 a0006c0006t0001 others(5): Show a0001c0001t0001 a0004c0055t0001 a0006c0006t0001 a0007c0019t0001 a0010c0031t0001 a0020c0034t0001 a0021c0035t0001 a0023c0041t0001	a0001c0001t0001g0062 a0001c0001t0001g0080 a0004c0055t0001g0007 others(6): Show a0001c0001t0001g0062 a0001c0001t0001g0080 a0004c0055t0001g0007 a0006c0006t0001g0047 a0007c0019t0001g0052 a0010c0031t0001g0096 a0020c0034t0001g0013 a0021c0035t0001g0106 a0023c0041t0001g0046	9	126	0.0714	15	c.93+ others(32): Show c.93+55869_93+55883dupTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33033554	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0009 a0008c0010t0009	a0008c0010t0009g0004 a0008c0010t0009g0004	1	126	0.0079	15	c.32- others(32): Show c.32-13369_32-13355dupTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33051646	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03098.hp1 HG02257.hp2 HG03098.hp1	a0002 a0003 a0002 a0003	a0002c0020 a0003c0008 a0002c0020 a0003c0008	a0002c0020t0028 a0003c0008t0023 a0002c0020t0028 a0003c0008t0023	a0002c0020t0028g0010 a0003c0008t0023g0005 a0002c0020t0028g0010 a0003c0008t0023g0005	2	126	0.0159	15	c.32- others(32): Show c.32-31461_32-31447dupAAAAAAAAAAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMGDH_chr5_78992564_79074674	79046056	G G	GTGTTTTG others(8): Show GTGTTTTGTTTTGTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0001 a0010c0019t0001	a0010c0019t0001g0312 a0010c0019t0001g0312	1	372	0.0027	15	c.746 others(32): Show c.746-1519_746-1505dupAAACAAAACAAAACA	DMGDH	ENSG00000132837.15	transcript	ENST00000255189.8	protein_coding	5/15			chr5	TogoVar
DMGDH_chr5_78992564_79074674	79068272	T T	TTTTAAAC others(8): Show TTTTAAACAGATCAAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02896.hp2 HG02970.hp1 others(3): Show HG02886.hp1 HG02896.hp2 HG02970.hp1 HG03486.hp2 HG03540.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0003g0330 others(3): Show a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0003g0330 a0001c0001t0003g0331 a0001c0001t0003g0332 a0001c0001t0003g0333	6	372	0.0161	15	c.101 others(32): Show c.101+1247_101+1248insGTTGATCTGTTTAAA	DMGDH	ENSG00000132837.15	transcript	ENST00000255189.8	protein_coding	1/15			chr5	TogoVar
DMPK_chr19_45764717_45787490	45770204	C C	CCAGCAGC others(8): Show CCAGCAGCAGCAGCAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 NA18943.hp2 NA18947.hp2 HG00639.hp2 NA18943.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0020 a0001c0001t0014g0020	3	416	0.0072	15	c.26 others(24): Show c.269_*283dupCTGCTGCTGCTGCTG	DMPK	ENSG00000104936.20	transcript	ENST00000291270.9	protein_coding	15/15	283		chr19	TogoVar
DMRT1_chr9_836697_974090	870709	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp2 HG02922.hp1 others(2): Show HG02559.hp1 HG02559.hp2 HG02922.hp1 HG03209.hp1 HG03225.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0003c0004t0001	a0001c0001t0001g0118 a0001c0001t0002g0121 a0001c0001t0002g0124 others(2): Show a0001c0001t0001g0118 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0010g0119 a0003c0004t0001g0123	5	306	0.0163	15	c.539 others(34): Show c.539-23197_539-23183dupTTTTTTTTTTTTTTT	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DMRT1_chr9_836697_974090	905488	C C	CTTGTGTG others(8): Show CTTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0238 a0001c0001t0004g0238	1	306	0.0033	15	c.823 others(34): Show c.823-11274_823-11273insTGTGTGTGTGTGTGT	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DMRT2_chr9_1045357_1062552	1060726	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00438.hp2 others(36): Show HG00099.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00673.hp1 HG01071.hp2 HG01168.hp2 HG01169.hp1 HG01346.hp1 HG02083.hp2 HG02132.hp2 HG02300.hp2 HG02572.hp2 HG02683.hp2 HG03453.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp2 HG03942.hp1 HG04184.hp1 NA18612.hp2 NA18941.hp2 NA18953.hp2 NA18954.hp1 NA18962.hp1 NA18968.hp1 NA18970.hp1 NA18975.hp2 NA18981.hp2 NA18986.hp1 NA18986.hp2 NA19001.hp2 NA19002.hp1 NA19060.hp2 NA19068.hp2 NA19086.hp2 NA19088.hp1 NA19240.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0002 a0001c0003 a0002c0001 others(2): Show a0001c0002 a0001c0003 a0002c0001 a0003c0004 a0008c0011	a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 others(10): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0003t0005 a0001c0003t0006 a0002c0001t0001 a0002c0001t0003 a0003c0004t0001 a0003c0004t0007 a0003c0004t0009 a0003c0004t0011 a0003c0004t0030 a0008c0011t0016	a0001c0002t0001g0070 a0001c0002t0002g0002 a0001c0002t0008g0002 others(17): Show a0001c0002t0001g0070 a0001c0002t0002g0002 a0001c0002t0008g0002 a0001c0003t0005g0005 a0001c0003t0005g0101 a0001c0003t0006g0002 a0001c0003t0006g0090 a0002c0001t0001g0001 a0002c0001t0001g0004 a0002c0001t0001g0021 a0002c0001t0001g0053 a0002c0001t0001g0066 a0002c0001t0003g0010 a0003c0004t0001g0003 a0003c0004t0007g0003 a0003c0004t0009g0003 a0003c0004t0009g0009 a0003c0004t0011g0003 a0003c0004t0030g0087 a0008c0011t0016g0106	39	488	0.0799	15	c.34 others(26): Show c.3453_*3454insTTTTTTTTTTTTTTT	DMRT2	ENSG00000173253.16	transcript	ENST00000358146.7	protein_coding		3175		chr9	TogoVar
DMRT3_chr9_971655_996732	992210	A A	ATAGACGT others(8): Show ATAGACGTGCATTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0022 a0004c0005t0022	a0004c0005t0022g0006 a0004c0005t0022g0006	1	458	0.0022	15	c.12 others(26): Show c.1205_*1206insTAGACGTGCATTCCT	DMRT3	ENSG00000064218.5	transcript	ENST00000190165.3	protein_coding		479		chr9	TogoVar
DMRTC1B_chrX_72771890_72853803	72776950	T T	TTCCTCCT others(8): Show TTCCTCCTCCTCCTCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0022 a0001c0001t0011g0022	1	26	0.0385	15	c.-35 others(24): Show c.-355_-341dupCCTCCTCCTCCTCCT	DMRTC1B	ENSG00000184911.15	transcript	ENST00000334036.10	protein_coding	1/7	68133	INFO_REALIGN_3_PRIME	chrX	TogoVar
DMRTC1_chrX_72867025_72948837	72880587	G G	GTTTGCTT others(8): Show GTTTGCTTTGCTTTGC	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0021 a0001c0001t0004g0021	1	54	0.0185	15	c.-94 others(32): Show c.-94-4814_-94-4800dupGCAAAGCAAAGCAAA	DMRTC1	ENSG00000269502.6	transcript	ENST00000615063.2	protein_coding	1/6			chrX	TogoVar
DMRTC1_chrX_72867025_72948837	72943820	C C	CAGGAGGA others(8): Show CAGGAGGAGGAGGAGG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0007 a0001c0001t0015g0007	1	54	0.0185	15	c.-35 others(24): Show c.-355_-341dupCCTCCTCCTCCTCCT	DMRTC1	ENSG00000269502.6	transcript	ENST00000615063.2	protein_coding	1/7	68127		chrX	TogoVar
DMTN_chr8_22051814_22087525	22079277	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG02132.hp1 HG00558.hp1 HG00558.hp2 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0180 a0001c0001t0001g0204 a0001c0001t0001g0164 a0001c0001t0001g0180 a0001c0001t0001g0204	3	324	0.0093	15	c.836 others(30): Show c.836-903_836-902insTATATATATATATAT	DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding	10/15			chr8	TogoVar
DMTN_chr8_22051814_22087525	22079301	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG00738.hp2 others(26): Show HG00140.hp2 HG00642.hp1 HG00738.hp2 HG01071.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01346.hp1 HG01496.hp1 HG01981.hp2 HG02129.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02622.hp1 HG02965.hp2 HG03139.hp2 HG03688.hp1 HG03942.hp1 NA18945.hp2 NA18994.hp2 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19011.hp1 NA19063.hp1 NA19091.hp2 NA20129.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0023 others(22): Show a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0107 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0166 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0187 a0001c0001t0001g0220 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0249 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0012g0211	29	324	0.0895	15	c.836 others(30): Show c.836-879_836-878insATATATATATATATA	DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding	10/15			chr8	TogoVar

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