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
DMD_chrX_31114222_33216549	31522363	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0079 a0005c0007t0001g0079	1	126	0.0079	28	c.821 others(49): Show c.8218-14911_8218-14910insTATATATATATATATAGAGAGAGA GAGA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31522363	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0064 a0004c0004t0001g0064	1	126	0.0079	28	c.821 others(49): Show c.8218-14911_8218-14910insTATATATATATATAGAGAGAGAGA GAGA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31522363	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0015 a0015	a0015c0056 a0015c0056	a0015c0056t0021 a0015c0056t0021	a0015c0056t0021g0045 a0015c0056t0021g0045	1	126	0.0079	28	c.821 others(49): Show c.8218-14911_8218-14910insTAGAGAGAGAGAGAGAGAGAGAGA GAGA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31559640	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0001 a0007c0018t0001	a0007c0018t0001g0099 a0007c0018t0001g0099	1	126	0.0079	28	c.821 others(49): Show c.8218-52188_8218-52187insTTTTTTTTTTTTTTTTTTTTTTTT TTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31628915	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0051 a0001c0002t0001g0051	1	126	0.0079	28	c.802 others(47): Show c.8028-1054_8028-1053insATATATATATATATATATATATATAT AT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	54/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31845031	T T	TATATATA others(21): Show TATATATATATATATGTATATGTGTATAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01256.hp1 HG03130.hp1 others(4): Show HG00280.hp1 HG01256.hp1 HG03130.hp1 HG03139.hp1 HG03486.hp1 HG03579.hp1 HG03942.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0010	a0001c0001 a0002c0012 a0003c0003 others(3): Show a0001c0001 a0002c0012 a0003c0003 a0005c0045 a0005c0053 a0010c0051	a0001c0001t0008 a0001c0001t0026 a0002c0012t0002 others(4): Show a0001c0001t0008 a0001c0001t0026 a0002c0012t0002 a0003c0003t0002 a0005c0045t0018 a0005c0053t0004 a0010c0051t0011	a0001c0001t0008g0021 a0001c0001t0026g0039 a0002c0012t0002g0098 others(4): Show a0001c0001t0008g0021 a0001c0001t0026g0039 a0002c0012t0002g0098 a0003c0003t0002g0043 a0005c0045t0018g0118 a0005c0053t0004g0103 a0010c0051t0011g0121	7	126	0.0556	28	c.709 others(47): Show c.7099-8213_7099-8212insGTATACACATATACATATATATATAT AT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	48/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31845375	G G	GTCTCTCT others(21): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0050 a0003c0003t0001g0050	1	126	0.0079	28	c.709 others(47): Show c.7099-8584_7099-8557dupGAGAGAGAGAGAGAGAGAGAGAGAGA GA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	48/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32085654	G G	GTATATAT others(21): Show GTATATATACGTATATATACACACGCGTA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0023 a0003c0008t0023	a0003c0008t0023g0005 a0003c0008t0023g0005	1	126	0.0079	28	c.643 others(51): Show c.6439-117168_6439-117141dupTACGCGTGTGTATATATACGTA TATATA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32298514	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0030 a0002c0020t0030	a0002c0020t0030g0125 a0002c0020t0030g0125	1	126	0.0079	28	c.611 others(49): Show c.6118-10814_6118-10813insATATATATATATATATATATATAT ATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	42/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32312942	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00673.hp1 HG01934.hp1 others(5): Show HG00280.hp1 HG00673.hp1 HG01934.hp1 HG02015.hp1 HG02071.hp1 HG03017.hp1 NA18995.hp1 NA20905.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0024 a0033	a0001c0001 a0001c0002 a0003c0003 others(3): Show a0001c0001 a0001c0002 a0003c0003 a0004c0004 a0024c0038 a0033c0050	a0001c0001t0001 a0001c0001t0026 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0026 a0001c0002t0001 a0003c0003t0001 a0004c0004t0001 a0024c0038t0001 a0033c0050t0001	a0001c0001t0001g0054 a0001c0001t0026g0039 a0001c0002t0001g0104 others(5): Show a0001c0001t0001g0054 a0001c0001t0026g0039 a0001c0002t0001g0104 a0001c0002t0001g0105 a0003c0003t0001g0027 a0004c0004t0001g0087 a0024c0038t0001g0053 a0033c0050t0001g0119	8	126	0.0635	28	c.592 others(47): Show c.5923-2667_5923-2666insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	41/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32435275	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	126	0.0079	28	c.407 others(47): Show c.4071+2965_4071+2966insATATATATATATATATATATATATAT AT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	29/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32483146	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0002 a0002c0009t0002g0002	1	126	0.0079	28	c.280 others(47): Show c.2803+1772_2803+1773insATATATATATATATATATATATATAT AT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	21/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32483164	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp1 HG02145.hp1 others(7): Show HG01167.hp1 HG01243.hp1 HG02145.hp1 HG02647.hp1 HG03098.hp1 NA18948.hp1 NA18952.hp1 NA18965.hp1 NA18982.hp1 NA19062.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0025 a0029 a0036	a0001c0001 a0001c0002 a0002c0005 others(5): Show a0001c0001 a0001c0002 a0002c0005 a0002c0020 a0004c0004 a0025c0039 a0029c0044 a0036c0021	a0001c0001t0002 a0001c0001t0016 a0001c0002t0001 others(7): Show a0001c0001t0002 a0001c0001t0016 a0001c0002t0001 a0002c0005t0001 a0002c0005t0007 a0002c0020t0028 a0004c0004t0002 a0025c0039t0003 a0029c0044t0014 a0036c0021t0017	a0001c0001t0002g0024 a0001c0001t0016g0038 a0001c0002t0001g0051 others(7): Show a0001c0001t0002g0024 a0001c0001t0016g0038 a0001c0002t0001g0051 a0002c0005t0001g0040 a0002c0005t0007g0092 a0002c0020t0028g0010 a0004c0004t0002g0086 a0025c0039t0003g0075 a0029c0044t0014g0094 a0036c0021t0017g0009	10	126	0.0794	28	c.280 others(47): Show c.2803+1754_2803+1755insGTATATATATATATATATATATATAT AT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	21/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32585699	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0088	1	126	0.0079	28	c.160 others(49): Show c.1602+10030_1602+10057dupTTTTTTTTTTTTTTTTTTTTTTTT TTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	13/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32828581	C C	CTATACAT others(21): Show CTATACATCTATACACATATATACATATG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0007 a0002c0005t0007	a0002c0005t0007g0092 a0002c0005t0007g0092	1	126	0.0079	28	c.265 others(45): Show c.265-5222_265-5195dupCATATGTATATATGTGTATAGATGTATA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	4/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32828594	C C	CACATATA others(21): Show CACATATATACATATGTATACATCTATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03195.hp1 HG02976.hp1 HG03195.hp1	a0002 a0022 a0002 a0022	a0002c0009 a0022c0025 a0002c0009 a0022c0025	a0002c0009t0002 a0022c0025t0006 a0002c0009t0002 a0022c0025t0006	a0002c0009t0002g0002 a0022c0025t0006g0108 a0002c0009t0002g0002 a0022c0025t0006g0108	2	126	0.0159	28	c.265 others(45): Show c.265-5208_265-5207insATATAGATGTATACATATGTATATATGT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	4/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32828622	C C	CACATATA others(21): Show CACATATATACATATGTATACATCTATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02451.hp2 HG02965.hp1 others(2): Show HG01255.hp1 HG02451.hp2 HG02965.hp1 HG02976.hp2 HG03486.hp1	a0002 a0005 a0002 a0005	a0002c0012 a0002c0024 a0002c0052 others(2): Show a0002c0012 a0002c0024 a0002c0052 a0005c0053 a0005c0057	a0002c0012t0002 a0002c0024t0011 a0002c0052t0025 others(2): Show a0002c0012t0002 a0002c0024t0011 a0002c0052t0025 a0005c0053t0004 a0005c0057t0001	a0002c0012t0002g0122 a0002c0024t0011g0016 a0002c0052t0025g0095 others(2): Show a0002c0012t0002g0122 a0002c0024t0011g0016 a0002c0052t0025g0095 a0005c0053t0004g0103 a0005c0057t0001g0109	5	126	0.0397	28	c.265 others(45): Show c.265-5263_265-5236dupATATAGATGTATACATATGTATATATGT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	4/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32863537	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0007 a0002c0005t0007	a0002c0005t0007g0092 a0002c0005t0007g0092	1	126	0.0079	28	c.94- others(45): Show c.94-13745_94-13718dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32887745	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0016 a0016	a0016c0028 a0016c0028	a0016c0028t0005 a0016c0028t0005	a0016c0028t0005g0028 a0016c0028t0005g0028	1	126	0.0079	28	c.94- others(45): Show c.94-37953_94-37926dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32969027	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0047 a0006c0006t0001g0047	1	126	0.0079	28	c.93+ others(45): Show c.93+51084_93+51111dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32969027	C C	CCAAAAAA others(21): Show CCAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0010 a0003c0014t0010	a0003c0014t0010g0015 a0003c0014t0010g0015	1	126	0.0079	28	c.93+ others(45): Show c.93+51111_93+51112insTTTTTTTTTTTTTTTTTTTTTTTTTTTG	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33009885	C C	CATGTGTA others(21): Show CATGTGTATATGTGTGTGTATGTGTATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0009 a0008c0010t0009	a0008c0010t0009g0004 a0008c0010t0009g0004	1	126	0.0079	28	c.93+ others(45): Show c.93+10253_93+10254insATATACACATACACACACATATACACAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33070673	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0025	1	126	0.0079	28	c.32- others(45): Show c.32-50474_32-50473insTATAGAGAGAGAGAGAGAGAGAGAGAGA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33108868	G G	GAAAAAAA others(21): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0027 a0027	a0027c0058 a0027c0058	a0027c0058t0019 a0027c0058t0019	a0027c0058t0019g0116 a0027c0058t0019g0116	1	126	0.0079	28	c.32- others(45): Show c.32-88669_32-88668insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33163552	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0027 a0003c0003t0027	a0003c0003t0027g0091 a0003c0003t0027g0091	1	126	0.0079	28	c.31+ others(45): Show c.31+47729_31+47730insTATATATATATATATATATATATATATA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33163620	C C	CTATCTAT others(21): Show CTATCTATCTATCTATCTATGTATCTATG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02055.hp1 HG01255.hp1 HG02055.hp1	a0002 a0003 a0002 a0003	a0002c0012 a0003c0008 a0002c0012 a0003c0008	a0002c0012t0002 a0003c0008t0015 a0002c0012t0002 a0003c0008t0015	a0002c0012t0002g0122 a0003c0008t0015g0123 a0002c0012t0002g0122 a0003c0008t0015g0123	2	126	0.0159	28	c.31+ others(45): Show c.31+47661_31+47662insCATAGATACATAGATAGATAGATAGATA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33163624	C C	CTATCTAT others(21): Show CTATCTATCTATCTATCTATGTATCTATG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0012 a0003c0008t0012	a0003c0008t0012g0117 a0003c0008t0012g0117	1	126	0.0079	28	c.31+ others(45): Show c.31+47657_31+47658insCATAGATACATAGATAGATAGATAGATA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMRTB1_chr1_53454399_53472488	53458073	C C	CAGAGAGA others(21): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG02965.hp1 HG00639.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	2	394	0.0051	28	c.-13 others(39): Show c.-1381_-1380insAGAGAGAGAGAGAGAGAGAGAGAGAGAG	DMRTB1	ENSG00000143006.7	transcript	ENST00000371445.3	protein_coding		1325		chr1	TogoVar
DMTN_chr8_22051814_22087525	22078403	T T	TCATATAT others(21): Show TCATATATATGTATATATGTGAATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03486.hp1 HG02258.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0036 a0001c0001t0011g0058 a0001c0001t0011g0036 a0001c0001t0011g0058	2	324	0.0062	28	c.836 others(45): Show c.836-1759_836-1732dupGTGAATATATACATATATATGTATATAT	DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMXL1_chr5_119066087_119254127	119173774	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0039 a0007c0012t0001g0039	1	238	0.0042	28	c.668 others(47): Show c.6682-1486_6682-1485insATATATATATATATATATATATATAT AT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	25/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119173776	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01255.hp1 HG02015.hp2 others(9): Show HG00558.hp1 HG01255.hp1 HG02015.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG03491.hp1 HG03492.hp1 HG03927.hp1 NA18959.hp2 NA19009.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0002c0003t0004 a0002c0003t0006	a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 others(9): Show a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0002t0001g0092 a0001c0002t0001g0100 a0001c0002t0001g0129 a0002c0003t0001g0087 a0002c0003t0001g0098 a0002c0003t0004g0085 a0002c0003t0006g0090	12	238	0.0504	28	c.668 others(47): Show c.6682-1463_6682-1462insTATATATATATATATATATATATATA TA	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	25/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119173776	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18959.hp1 HG02622.hp1 NA18959.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0014 a0002c0003t0004 a0001c0002t0014 a0002c0003t0004	a0001c0002t0014g0132 a0002c0003t0004g0059 a0001c0002t0014g0132 a0002c0003t0004g0059	2	238	0.0084	28	c.668 others(47): Show c.6682-1484_6682-1483insGTATATATATATATATATATATATAT AT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	25/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL2_chr15_51442791_51627771	51502306	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18747.hp1 NA18952.hp1 others(1): Show HG00597.hp2 NA18747.hp1 NA18952.hp1 NA18971.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0208 a0004c0005t0001g0325 a0004c0005t0001g0327 others(1): Show a0004c0005t0001g0208 a0004c0005t0001g0325 a0004c0005t0001g0327 a0004c0005t0001g0329	4	346	0.0116	28	c.299 others(45): Show c.2992+472_2992+499dupCACACACACACACACACACACACACACA	DMXL2	ENSG00000104093.14	transcript	ENST00000560891.6	protein_coding	17/43			chr15	TogoVar
DNAAF10_chr2_68124805_68162527	68130115	G G	GAGAGAGA others(21): Show GAGAGAGATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0248 a0001c0001t0029g0248	1	432	0.0023	28	c.11 others(39): Show c.1122_*1123insATATATATATATATATATATATCTCTCT	DNAAF10	ENSG00000243667.7	transcript	ENST00000295121.11	protein_coding	8/8	1122		chr2	TogoVar
DNAAF10_chr2_68124805_68162527	68130115	G G	GAGAGATA others(21): Show GAGAGATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0240 a0001c0001t0037g0240	1	432	0.0023	28	c.11 others(39): Show c.1122_*1123insATATATATATATATATATATATATCTCT	DNAAF10	ENSG00000243667.7	transcript	ENST00000295121.11	protein_coding	8/8	1122		chr2	TogoVar
DNAAF1_chr16_84140308_84182918	84148596	C C	CTCTCTTT others(21): Show CTCTCTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0006 a0005c0014t0006	a0005c0014t0006g0393 a0005c0014t0006g0393	1	456	0.0022	28	c.125 others(43): Show c.125-410_125-409insCTCTTTTTTTTTTTTTTTTTTTTTTTTT	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF1_chr16_84140308_84182918	84148596	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02895.hp2 HG02293.hp2 HG02895.hp2	a0006 a0009 a0006 a0009	a0006c0006 a0009c0012 a0006c0006 a0009c0012	a0006c0006t0001 a0009c0012t0001 a0006c0006t0001 a0009c0012t0001	a0006c0006t0001g0381 a0009c0012t0001g0382 a0006c0006t0001g0381 a0009c0012t0001g0382	2	456	0.0044	28	c.125 others(43): Show c.125-393_125-392insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF1_chr16_84140308_84182918	84168827	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02683.hp2 HG00280.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0258 a0002c0002t0001g0264 a0002c0002t0001g0258 a0002c0002t0001g0264	2	456	0.0044	28	c.103 others(47): Show c.1031-1029_1031-1002dupACACACACACACACACACACACACAC AC	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF3_chr19_55153665_55171613	55168406	T T	TATATAGA others(21): Show TATATAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0107 a0002c0003t0001g0107	1	398	0.0025	28	c.-18 others(39): Show c.-1889_-1888insCTCTCTCTCTCTCTCTCTCTCTCTATAT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		1794		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55169933	G G	GTATTTAT others(21): Show GTATTTATTTATTTATTTATTTATTTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18971.hp1 NA18955.hp2 NA18971.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0002 a0003c0002t0001g0083 a0003c0002t0001g0002 a0003c0002t0001g0083	2	398	0.0050	28	c.-34 others(39): Show c.-3416_-3415insAATAAATAAATAAATAAATAAATAAATA	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		3321		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55170850	T T	TTCTCTCT others(21): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01928.hp1 HG01978.hp1 others(6): Show HG01106.hp1 HG01928.hp1 HG01978.hp1 HG01993.hp2 HG02273.hp1 HG02273.hp2 HG03669.hp2 NA18950.hp2 NA18998.hp1	a0003 a0005 a0003 a0005	a0003c0002 a0005c0008 a0003c0002 a0005c0008	a0003c0002t0001 a0005c0008t0001 a0003c0002t0001 a0005c0008t0001	a0003c0002t0001g0002 a0003c0002t0001g0006 a0003c0002t0001g0007 others(2): Show a0003c0002t0001g0002 a0003c0002t0001g0006 a0003c0002t0001g0007 a0003c0002t0001g0040 a0005c0008t0001g0038	9	398	0.0226	28	c.-43 others(39): Show c.-4333_-4332insGAGAGAGAGAGAGAGAGAGAGAGAGAGA	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		4238		chr19	TogoVar
DNAAF6_chrX_107201611_107249247	107204677	C C	CATTTTAA others(21): Show CATTTTAAATAAATTATTTATTTAAATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG03492.hp1 HG03704.hp1 others(2): Show HG01993.hp2 HG03492.hp1 HG03704.hp1 HG03831.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0028 a0001c0001t0001g0070 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0028 a0001c0001t0001g0070 a0001c0001t0001g0101 a0001c0001t0001g0105	5	296	0.0169	28	c.-20 others(39): Show c.-2017_-2016insATTTTAAATAAATTATTTATTTAAATAA	DNAAF6	ENSG00000080572.14	transcript	ENST00000372453.8	protein_coding		1933		chrX	TogoVar
DNAAF6_chrX_107201611_107249247	107204893	A A	ATTATTTA others(21): Show ATTATTTAAATAAATTTTAAATAAATTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01106.hp1 HG01255.hp1 HG01081.hp2 HG01106.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0018 a0001c0001t0001g0028	3	296	0.0101	28	c.-18 others(39): Show c.-1801_-1800insTTATTTAAATAAATTTTAAATAAATTAT	DNAAF6	ENSG00000080572.14	transcript	ENST00000372453.8	protein_coding		1717		chrX	TogoVar
DNAAF9_chr20_3244306_3412669	3310333	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	362	0.0028	28	c.167 others(47): Show c.1678+4672_1678+4699dupCTTTCTTTCTTTCTTTCTTTCTTTCT TT	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	20/36			chr20	TogoVar
DNAH10_chr12_123757301_123940714	123911990	G G	GGGGGGGT others(21): Show GGGGGGGTCTGTGTTGGGGTGTCTGTCCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18906.hp2 NA18979.hp2 HG02055.hp2 NA18906.hp2 NA18979.hp2	a0005 a0006 a0048 a0005 a0006 a0048	a0005c0065 a0006c0027 a0048c0052 a0005c0065 a0006c0027 a0048c0052	a0005c0065t0001 a0006c0027t0001 a0048c0052t0001 a0005c0065t0001 a0006c0027t0001 a0048c0052t0001	a0005c0065t0001g0042 a0006c0027t0001g0115 a0048c0052t0001g0051 a0005c0065t0001g0042 a0006c0027t0001g0115 a0048c0052t0001g0051	3	170	0.0177	28	c.101 others(49): Show c.10135-1097_10135-1096insGTTGGGGTGTCTGTCCTGGGGGGT CTGT	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123912065	G G	GGGGGGGT others(21): Show GGGGGGGTCTGTCCCGGGGGGTCTGTCCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00741.hp2 HG01168.hp1 others(23): Show HG00544.hp1 HG00741.hp2 HG01168.hp1 HG01169.hp1 HG01433.hp2 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG01981.hp1 HG02027.hp1 HG02109.hp1 HG02630.hp2 HG02717.hp2 HG03209.hp2 HG03688.hp2 HG04184.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18950.hp1 NA18960.hp1 NA18977.hp2 NA18979.hp1 NA20905.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0032 a0035 a0038 a0050 a0073	a0001c0001 a0001c0002 a0001c0041 others(12): Show a0001c0001 a0001c0002 a0001c0041 a0001c0058 a0002c0011 a0002c0029 a0003c0019 a0004c0050 a0005c0065 a0006c0026 a0032c0039 a0035c0055 a0038c0069 a0050c0056 a0073c0034	a0001c0001t0001 a0001c0002t0002 a0001c0041t0001 others(12): Show a0001c0001t0001 a0001c0002t0002 a0001c0041t0001 a0001c0058t0001 a0002c0011t0001 a0002c0029t0001 a0003c0019t0002 a0004c0050t0001 a0005c0065t0001 a0006c0026t0002 a0032c0039t0001 a0035c0055t0002 a0038c0069t0001 a0050c0056t0001 a0073c0034t0001	a0001c0001t0001g0020 a0001c0001t0001g0057 a0001c0001t0001g0058 others(23): Show a0001c0001t0001g0020 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0089 a0001c0001t0001g0099 a0001c0001t0001g0114 a0001c0002t0002g0072 a0001c0002t0002g0107 a0001c0002t0002g0113 a0001c0002t0002g0116 a0001c0002t0002g0161 a0001c0041t0001g0159 a0001c0058t0001g0033 a0002c0011t0001g0164 a0002c0029t0001g0131 a0002c0029t0001g0142 a0003c0019t0002g0093 a0004c0050t0001g0136 a0005c0065t0001g0042 a0006c0026t0002g0081 a0032c0039t0001g0018 a0035c0055t0002g0069 a0038c0069t0001g0056 a0050c0056t0001g0073 a0073c0034t0001g0055	26	170	0.1529	28	c.101 others(49): Show c.10135-1027_10135-1026insTCTGTCCCGGGGGGTCTGTCCCGG GGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123912096	G G	GGGGGGGT others(21): Show GGGGGGGTCTGTCCCGGGGGGTCTGTCCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp1 HG01884.hp2 others(10): Show HG00642.hp1 HG01109.hp1 HG01884.hp2 HG02055.hp1 HG02280.hp2 HG02615.hp1 HG02717.hp1 HG02896.hp2 HG02965.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp2 HG03579.hp1	a0007 a0008 a0014 others(5): Show a0007 a0008 a0014 a0024 a0025 a0051 a0054 a0071	a0007c0010 a0007c0097 a0008c0008 others(7): Show a0007c0010 a0007c0097 a0008c0008 a0014c0016 a0024c0024 a0025c0079 a0025c0080 a0051c0038 a0054c0064 a0071c0085	a0007c0010t0001 a0007c0097t0001 a0008c0008t0001 others(7): Show a0007c0010t0001 a0007c0097t0001 a0008c0008t0001 a0014c0016t0001 a0024c0024t0001 a0025c0079t0001 a0025c0080t0001 a0051c0038t0001 a0054c0064t0001 a0071c0085t0001	a0007c0010t0001g0127 a0007c0010t0001g0128 a0007c0097t0001g0126 others(10): Show a0007c0010t0001g0127 a0007c0010t0001g0128 a0007c0097t0001g0126 a0008c0008t0001g0011 a0008c0008t0001g0019 a0014c0016t0001g0102 a0014c0016t0001g0103 a0024c0024t0001g0005 a0025c0079t0001g0080 a0025c0080t0001g0004 a0051c0038t0001g0119 a0054c0064t0001g0109 a0071c0085t0001g0066	13	170	0.0765	28	c.101 others(47): Show c.10135-996_10135-995insTCTGTCCCGGGGGGTCTGTCCCGGGG GG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH11_chr7_21538039_21906839	21645676	T T	TATATCTA others(21): Show TATATCTAAAAATCAGATATCTAAATCAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01993.hp1 HG02055.hp2 others(17): Show HG00738.hp2 HG01993.hp1 HG02055.hp2 HG02145.hp2 HG02257.hp1 HG02717.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03239.hp2 HG03471.hp1 HG03516.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2	a0006 a0009 a0047 others(17): Show a0006 a0009 a0047 a0050 a0074 a0075 a0083 a0109 a0140 a0141 a0145 a0160 a0161 a0162 a0168 a0174 a0187 a0214 a0215 a0226	a0006c0161 a0009c0212 a0047c0175 others(17): Show a0006c0161 a0009c0212 a0047c0175 a0050c0134 a0074c0033 a0075c0034 a0083c0145 a0109c0171 a0140c0125 a0141c0121 a0145c0076 a0160c0240 a0161c0250 a0162c0239 a0168c0183 a0174c0185 a0187c0248 a0214c0220 a0215c0221 a0226c0260	a0006c0161t0008 a0009c0212t0001 a0047c0175t0001 others(17): Show a0006c0161t0008 a0009c0212t0001 a0047c0175t0001 a0050c0134t0001 a0074c0033t0001 a0075c0034t0001 a0083c0145t0001 a0109c0171t0001 a0140c0125t0004 a0141c0121t0001 a0145c0076t0004 a0160c0240t0004 a0161c0250t0002 a0162c0239t0003 a0168c0183t0004 a0174c0185t0001 a0187c0248t0001 a0214c0220t0001 a0215c0221t0001 a0226c0260t0016	a0006c0161t0008g0099 a0009c0212t0001g0216 a0047c0175t0001g0001 others(17): Show a0006c0161t0008g0099 a0009c0212t0001g0216 a0047c0175t0001g0001 a0050c0134t0001g0078 a0074c0033t0001g0244 a0075c0034t0001g0004 a0083c0145t0001g0240 a0109c0171t0001g0293 a0140c0125t0004g0236 a0141c0121t0001g0085 a0145c0076t0004g0084 a0160c0240t0004g0132 a0161c0250t0002g0133 a0162c0239t0003g0215 a0168c0183t0004g0211 a0174c0185t0001g0224 a0187c0248t0001g0230 a0214c0220t0001g0200 a0215c0221t0001g0233 a0226c0260t0016g0226	20	298	0.0671	28	c.494 others(47): Show c.4944+6680_4944+6707dupCAGATATCTAAATCAGATATCTAAAA AT	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	28/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH11_chr7_21538039_21906839	21789808	T T	TCTTTCTT others(21): Show TCTTTCTTTCTTTCTTTTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA20752.hp1 NA18957.hp1 NA20752.hp1	a0008 a0081 a0008 a0081	a0008c0214 a0081c0068 a0008c0214 a0081c0068	a0008c0214t0006 a0081c0068t0004 a0008c0214t0006 a0081c0068t0004	a0008c0214t0006g0175 a0081c0068t0004g0251 a0008c0214t0006g0175 a0081c0068t0004g0251	2	298	0.0067	28	c.100 others(47): Show c.10026+466_10026+467insCTTTCTTTCTTTCTTTTTTCTTTCTT TC	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81			chr7	TogoVar
DNAH11_chr7_21538039_21906839	21789808	T T	TCTTTCTT others(21): Show TCTTTCTTTCTTTTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01981.hp1 HG00544.hp2 HG01981.hp1	a0028 a0119 a0028 a0119	a0028c0083 a0119c0023 a0028c0083 a0119c0023	a0028c0083t0004 a0119c0023t0005 a0028c0083t0004 a0119c0023t0005	a0028c0083t0004g0039 a0119c0023t0005g0119 a0028c0083t0004g0039 a0119c0023t0005g0119	2	298	0.0067	28	c.100 others(47): Show c.10026+466_10026+467insCTTTCTTTCTTTTTTCTTTCTTTCTT TC	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81			chr7	TogoVar

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