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
ABR_chr17_998519_1184981	999358	T T	TATATATA others(21): Show TATATATATATATATATATATATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0037 a0001c0002t0008g0037	1	337	0.0030	28	c.67 others(39): Show c.6721_*6722insGTGTATATATATATATATATATATATAT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding		4160		chr17	TogoVar
ABR_chr17_998519_1184981	1079788	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0007 a0001c0001t0008g0007	1	337	0.0030	28	c.640 others(43): Show c.640-426_640-399dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	5/22			chr17	TogoVar
ABR_chr17_998519_1184981	1117114	T T	TTCCTCCC others(21): Show TTCCTCCCAGCTTTATCCCTGAGCCTGAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00639.hp2 others(26): Show HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00741.hp2 HG01109.hp1 HG01358.hp1 HG02056.hp2 HG02129.hp1 HG02135.hp1 HG02155.hp1 HG02717.hp1 HG03041.hp1 HG03491.hp2 HG03710.hp2 HG04204.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA19012.hp1 NA19066.hp1 NA19074.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0074 a0001c0014t0010	a0001c0001t0001g0098 a0001c0001t0001g0157 a0001c0001t0001g0203 others(26): Show a0001c0001t0001g0098 a0001c0001t0001g0157 a0001c0001t0001g0203 a0001c0001t0001g0224 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0002g0095 a0001c0001t0002g0099 a0001c0001t0002g0114 a0001c0001t0002g0144 a0001c0001t0003g0143 a0001c0001t0003g0168 a0001c0001t0004g0290 a0001c0001t0004g0329 a0001c0001t0005g0304 a0001c0001t0006g0055 a0001c0001t0006g0077 a0001c0001t0006g0141 a0001c0001t0006g0162 a0001c0001t0007g0288 a0001c0001t0007g0306 a0001c0001t0007g0323 a0001c0001t0007g0324 a0001c0001t0009g0018 a0001c0001t0009g0036 a0001c0001t0012g0183 a0001c0001t0013g0049 a0001c0001t0074g0115 a0001c0014t0010g0307	29	337	0.0861	28	c.246 others(45): Show c.246+8068_246+8069insCTCAGGCTCAGGGATAAAGCTGGGAGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1117125	G G	GTTATCCC others(21): Show GTTATCCCTGAGCCTGAGTCCTCCCAGCT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG03490.hp1 HG00609.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0151 a0001c0001t0009g0023 a0001c0001t0002g0151 a0001c0001t0009g0023	2	337	0.0059	28	c.246 others(45): Show c.246+8057_246+8058insAGCTGGGAGGACTCAGGCTCAGGGATAA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1117261	C C	CTCCCCAG others(21): Show CTCCCCAGCTTTATCCCTGAGCCTGAGTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01975.hp1 HG03195.hp2 others(4): Show HG01934.hp2 HG01975.hp1 HG03195.hp2 HG06807.hp2 NA20129.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0003t0025	a0001c0001t0001g0087 a0001c0001t0001g0173 a0001c0001t0001g0202 others(4): Show a0001c0001t0001g0087 a0001c0001t0001g0173 a0001c0001t0001g0202 a0001c0001t0007g0326 a0001c0001t0009g0004 a0001c0001t0014g0103 a0001c0003t0025g0006	7	337	0.0208	28	c.246 others(45): Show c.246+7921_246+7922insAACTCAGGCTCAGGGATAAAGCTGGGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1117700	C C	CCCAGCGT others(21): Show CCCAGCGTTATCCCTGAGCCCGAGTTCCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0240 a0001c0001t0031g0240	1	337	0.0030	28	c.246 others(45): Show c.246+7482_246+7483insAGGAACTCGGGCTCAGGGATAACGCTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118076	T T	TCCCAGCG others(21): Show TCCCAGCGTTAACCCTGAGCCTGAGTTCC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0316 a0001c0001t0004g0316	1	337	0.0030	28	c.246 others(45): Show c.246+7106_246+7107insGGAACTCAGGCTCAGGGTTAACGCTGGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118251	C C	CTCCAGCG others(21): Show CTCCAGCGTTATCCCTGAGCCTGAGTTCT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0119 a0001c0003t0012g0119	1	337	0.0030	28	c.246 others(45): Show c.246+6931_246+6932insAGAACTCAGGCTCAGGGATAACGCTGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118363	T T	TTCCTCCC others(21): Show TTCCTCCCAGCATTATCCCTGAGCCTGAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	337	0.0030	28	c.246 others(45): Show c.246+6819_246+6820insCTCAGGCTCAGGGATAATGCTGGGAGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118493	T T	TCCCTGAG others(21): Show TCCCTGAGCCTGAGTTCTCCCAGCGTTAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02922.hp2 HG02965.hp1 HG01167.hp2 HG02922.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0027 a0001c0001t0040 a0001c0002t0012 a0001c0001t0027 a0001c0001t0040 a0001c0002t0012	a0001c0001t0027g0039 a0001c0001t0040g0002 a0001c0002t0012g0244 a0001c0001t0027g0039 a0001c0001t0040g0002 a0001c0002t0012g0244	3	337	0.0089	28	c.246 others(45): Show c.246+6689_246+6690insTTAACGCTGGGAGAACTCAGGCTCAGGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118627	C C	CCCAGCGT others(21): Show CCCAGCGTTATCCCTGAGCCTGAGTTCCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0010 a0001c0014t0010	a0001c0014t0010g0307 a0001c0014t0010g0307	1	337	0.0030	28	c.246 others(45): Show c.246+6555_246+6556insAGGAACTCAGGCTCAGGGATAACGCTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118656	C C	CCCAGCGT others(21): Show CCCAGCGTTATCCCTGAGCCTGAGTTCCT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18967.hp2 NA18947.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0319 a0001c0001t0010g0321 a0001c0001t0004g0319 a0001c0001t0010g0321	2	337	0.0059	28	c.246 others(45): Show c.246+6526_246+6527insAGGAACTCAGGCTCAGGGATAACGCTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118943	C C	CCCAGCGT others(21): Show CCCAGCGTTATCCCTGAGCCTGAGTTCCT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02071.hp1 HG02080.hp2 others(3): Show HG00609.hp1 HG02071.hp1 HG02080.hp2 NA18970.hp1 NA18995.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0032 a0001c0001t0033	a0001c0001t0001g0181 a0001c0001t0002g0151 a0001c0001t0002g0180 others(3): Show a0001c0001t0001g0181 a0001c0001t0002g0151 a0001c0001t0002g0180 a0001c0001t0004g0297 a0001c0001t0032g0303 a0001c0001t0033g0264	6	337	0.0178	28	c.246 others(45): Show c.246+6239_246+6240insAGGAACTCAGGCTCAGGGATAACGCTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118997	T T	TTCTCCCC others(21): Show TTCTCCCCAGCGTTATCCCTGAGCCTGAG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01261.hp1 HG03098.hp1 others(1): Show HG00609.hp2 HG01261.hp1 HG03098.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0023 a0001c0001t0001 a0001c0001t0002 a0001c0001t0023	a0001c0001t0001g0054 a0001c0001t0001g0165 a0001c0001t0002g0053 others(1): Show a0001c0001t0001g0054 a0001c0001t0001g0165 a0001c0001t0002g0053 a0001c0001t0023g0035	4	337	0.0119	28	c.246 others(45): Show c.246+6185_246+6186insCTCAGGCTCAGGGATAACGCTGGGGAGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1119197	T T	TCCTCCCC others(21): Show TCCTCCCCAGCGTTATCCCTGAGCCTGAG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0112 a0001c0001t0003g0112	1	337	0.0030	28	c.246 others(45): Show c.246+5985_246+5986insCTCAGGCTCAGGGATAACGCTGGGGAGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1119197	T T	TTCCTCCC others(21): Show TTCCTCCCAGCATTATCCCTGAGCCTGAG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0057 a0001c0001t0019g0057	1	337	0.0030	28	c.246 others(45): Show c.246+5985_246+5986insCTCAGGCTCAGGGATAATGCTGGGAGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1119197	T T	TTCTCCCC others(21): Show TTCTCCCCAGCGTTATCCCTGAGCCTGAG	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18995.hp2 HG00609.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0151 a0001c0001t0004g0297 a0001c0001t0002g0151 a0001c0001t0004g0297	2	337	0.0059	28	c.246 others(45): Show c.246+5985_246+5986insCTCAGGCTCAGGGATAACGCTGGGGAGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1119212	T T	TCCCTGAG others(21): Show TCCCTGAGCCTGAGTCCTCCCAGCGTTAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG01517.hp1 others(3): Show HG00140.hp1 HG00408.hp1 HG01517.hp1 NA18943.hp2 NA18954.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0057 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0057 a0001c0001t0063	a0001c0001t0001g0089 a0001c0001t0001g0169 a0001c0001t0001g0219 others(3): Show a0001c0001t0001g0089 a0001c0001t0001g0169 a0001c0001t0001g0219 a0001c0001t0006g0204 a0001c0001t0057g0174 a0001c0001t0063g0189	6	337	0.0178	28	c.246 others(45): Show c.246+5970_246+5971insTTAACGCTGGGAGGACTCAGGCTCAGGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1119241	T T	TCCCTGAG others(21): Show TCCCTGAGCCTGAGTCCTCCCAGCGTTAA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02165.hp2 NA19063.hp2 HG02132.hp2 HG02165.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0019 a0001c0001t0076 a0001c0001t0010 a0001c0001t0019 a0001c0001t0076	a0001c0001t0010g0314 a0001c0001t0019g0211 a0001c0001t0076g0171 a0001c0001t0010g0314 a0001c0001t0019g0211 a0001c0001t0076g0171	3	337	0.0089	28	c.246 others(45): Show c.246+5941_246+5942insTTAACGCTGGGAGGACTCAGGCTCAGGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1119270	T T	TCCCTGAG others(21): Show TCCCTGAGCCTGAGTCCTCCCAGCGTTAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA20300.hp1 HG02723.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0051 a0001c0003t0012 a0001c0003t0051	a0001c0003t0012g0119 a0001c0003t0051g0106 a0001c0003t0012g0119 a0001c0003t0051g0106	2	337	0.0059	28	c.246 others(45): Show c.246+5912_246+5913insTTAACGCTGGGAGGACTCAGGCTCAGGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1119417	T T	TCCCTGAG others(21): Show TCCCTGAGCCTGAGTCCTCCCAGCGTTAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01175.hp1 HG01192.hp1 others(5): Show HG00544.hp1 HG01175.hp1 HG01192.hp1 HG01928.hp1 HG01943.hp1 HG01978.hp2 NA19005.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0087	a0001c0001t0003g0117 a0001c0001t0003g0207 a0001c0001t0004g0334 others(5): Show a0001c0001t0003g0117 a0001c0001t0003g0207 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0007g0325 a0001c0001t0008g0042 a0001c0001t0009g0050 a0001c0001t0087g0311	8	337	0.0237	28	c.246 others(45): Show c.246+5765_246+5766insTTAACGCTGGGAGGACTCAGGCTCAGGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153519	G G	GGGAGGGC others(21): Show GGGAGGGCTAGGGATCCAGGCACACCTGC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01952.hp2 HG02273.hp2 others(1): Show HG01943.hp2 HG01952.hp2 HG02273.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0012t0055	a0001c0001t0002g0223 a0001c0001t0004g0316 a0001c0001t0007g0317 others(1): Show a0001c0001t0002g0223 a0001c0001t0004g0316 a0001c0001t0007g0317 a0001c0012t0055g0235	4	337	0.0119	28	c.61+ others(45): Show c.61+26147_61+26148insGCAGGTGTGCCTGGATCCCTAGCCCTCC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153519	G G	GGGAGGGC others(21): Show GGGAGGGCTGGGGGTCCAGGCACACCTAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03209.hp1 HG02258.hp2 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0092 a0001c0003t0023 a0001c0002t0092 a0001c0003t0023	a0001c0002t0092g0336 a0001c0003t0023g0005 a0001c0002t0092g0336 a0001c0003t0023g0005	2	337	0.0059	28	c.61+ others(45): Show c.61+26147_61+26148insGTAGGTGTGCCTGGACCCCCAGCCCTCC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABTB3_chr12_107313434_107664642	107322715	A A	ACCTTTTG others(21): Show ACCTTTTGAAAAGGTACTACACTATTATC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(125): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00609.hp1 HG00621.hp2 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02055.hp1 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04204.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18954.hp1 NA18954.hp2 NA18964.hp1 NA18964.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18999.hp1 NA19002.hp1 NA19030.hp1 NA19030.hp2 NA19063.hp2 NA19065.hp2 NA19070.hp2 NA19086.hp1 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0014	a0001c0001 a0001c0003 a0001c0011 others(23): Show a0001c0001 a0001c0003 a0001c0011 a0001c0030 a0002c0002 a0002c0009 a0002c0015 a0002c0018 a0002c0031 a0002c0033 a0003c0004 a0003c0006 a0003c0008 a0003c0021 a0003c0029 a0004c0005 a0005c0007 a0005c0016 a0006c0014 a0006c0032 a0007c0010 a0008c0013 a0009c0034 a0010c0017 a0012c0025 a0014c0023	a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 others(57): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 a0001c0001t0015 a0001c0001t0030 a0001c0001t0033 a0001c0003t0002 a0001c0003t0005 a0001c0003t0006 a0001c0003t0035 a0001c0011t0006 a0001c0011t0031 a0001c0030t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0002c0002t0010 a0002c0002t0012 a0002c0002t0017 a0002c0002t0018 a0002c0002t0023 a0002c0002t0025 a0002c0002t0034 a0002c0002t0036 a0002c0002t0038 a0002c0009t0001 a0002c0009t0003 a0002c0009t0029 a0002c0015t0007 a0002c0018t0020 a0002c0031t0003 a0002c0033t0001 a0003c0004t0002 a0003c0004t0011 a0003c0006t0002 a0003c0006t0005 a0003c0008t0002 a0003c0008t0011 a0003c0021t0006 a0003c0029t0002 a0004c0005t0009 a0004c0005t0013 a0004c0005t0032 a0005c0007t0001 a0005c0007t0003 a0005c0007t0007 a0005c0007t0026 a0005c0016t0003 a0006c0014t0008 a0006c0014t0037 a0006c0032t0008 a0007c0010t0003 a0007c0010t0005 a0008c0013t0008 a0008c0013t0019 a0009c0034t0003 a0010c0017t0003 a0012c0025t0002 a0014c0023t0006	a0001c0001t0002g0042 a0001c0001t0002g0078 a0001c0001t0002g0082 others(125): Show a0001c0001t0002g0042 a0001c0001t0002g0078 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0152 a0001c0001t0002g0157 a0001c0001t0006g0074 a0001c0001t0006g0089 a0001c0001t0006g0100 a0001c0001t0006g0102 a0001c0001t0014g0154 a0001c0001t0015g0156 a0001c0001t0030g0081 a0001c0001t0033g0077 a0001c0003t0002g0095 a0001c0003t0002g0134 a0001c0003t0002g0138 a0001c0003t0002g0141 a0001c0003t0002g0145 a0001c0003t0002g0146 a0001c0003t0002g0159 a0001c0003t0005g0133 a0001c0003t0005g0135 a0001c0003t0005g0136 a0001c0003t0005g0143 a0001c0003t0005g0158 a0001c0003t0006g0140 a0001c0003t0006g0147 a0001c0003t0006g0148 a0001c0003t0035g0142 a0001c0011t0006g0101 a0001c0011t0031g0075 a0001c0030t0002g0104 a0002c0002t0001g0060 a0002c0002t0001g0109 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0120 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0128 a0002c0002t0003g0062 a0002c0002t0004g0059 a0002c0002t0004g0061 a0002c0002t0004g0110 a0002c0002t0004g0112 a0002c0002t0004g0114 a0002c0002t0004g0116 a0002c0002t0004g0127 a0002c0002t0007g0172 a0002c0002t0007g0174 a0002c0002t0007g0175 a0002c0002t0007g0176 a0002c0002t0007g0178 a0002c0002t0007g0179 a0002c0002t0007g0186 a0002c0002t0010g0173 a0002c0002t0010g0181 a0002c0002t0010g0182 a0002c0002t0012g0177 a0002c0002t0012g0180 a0002c0002t0017g0167 a0002c0002t0018g0183 a0002c0002t0023g0121 a0002c0002t0025g0164 a0002c0002t0034g0115 a0002c0002t0036g0170 a0002c0002t0038g0184 a0002c0009t0001g0067 a0002c0009t0003g0064 a0002c0009t0003g0065 a0002c0009t0003g0071 a0002c0009t0029g0069 a0002c0015t0007g0166 a0002c0018t0020g0168 a0002c0031t0003g0066 a0002c0033t0001g0068 a0003c0004t0002g0076 a0003c0004t0011g0155 a0003c0006t0002g0129 a0003c0006t0002g0139 a0003c0006t0005g0130 a0003c0006t0005g0132 a0003c0006t0005g0137 a0003c0006t0005g0144 a0003c0006t0005g0149 a0003c0008t0002g0087 a0003c0008t0002g0092 a0003c0008t0011g0153 a0003c0021t0006g0151 a0003c0029t0002g0131 a0004c0005t0009g0080 a0004c0005t0009g0094 a0004c0005t0009g0097 a0004c0005t0009g0103 a0004c0005t0009g0107 a0004c0005t0013g0163 a0004c0005t0032g0091 a0005c0007t0001g0122 a0005c0007t0003g0072 a0005c0007t0003g0113 a0005c0007t0003g0119 a0005c0007t0007g0169 a0005c0007t0026g0123 a0005c0016t0003g0063 a0005c0016t0003g0161 a0006c0014t0008g0126 a0006c0014t0037g0171 a0006c0032t0008g0160 a0007c0010t0003g0162 a0007c0010t0005g0090 a0007c0010t0005g0150 a0008c0013t0008g0073 a0008c0013t0019g0185 a0009c0034t0003g0070 a0010c0017t0003g0111 a0012c0025t0002g0079 a0014c0023t0006g0099	128	186	0.6882	28	c.113 others(47): Show c.1135+2642_1135+2643insTTTTGAAAAGGTACTACACTATTATC CC	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107441774	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02486.hp1 HG02965.hp1 others(3): Show HG01168.hp2 HG02486.hp1 HG02965.hp1 HG02976.hp2 HG03139.hp2 NA18522.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0007 a0014	a0001c0001 a0003c0004 a0004c0005 others(2): Show a0001c0001 a0003c0004 a0004c0005 a0007c0010 a0014c0023	a0001c0001t0002 a0001c0001t0006 a0003c0004t0001 others(3): Show a0001c0001t0002 a0001c0001t0006 a0003c0004t0001 a0004c0005t0009 a0007c0010t0003 a0014c0023t0006	a0001c0001t0002g0042 a0001c0001t0006g0100 a0003c0004t0001g0022 others(3): Show a0001c0001t0002g0042 a0001c0001t0006g0100 a0003c0004t0001g0022 a0004c0005t0009g0094 a0007c0010t0003g0162 a0014c0023t0006g0099	6	186	0.0323	28	c.113 others(49): Show c.1136-78696_1136-78695insAAAAAAAAAAAAAAAAAAAAAAAA AAAA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107469942	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTTTCTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	186	0.0054	28	c.113 others(49): Show c.1136-50542_1136-50541insCTCTCTCTCTCTCTTTCTCTTTCT TTCT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107508438	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA19063.hp2 NA18979.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0023 a0002c0002t0001 a0002c0002t0023	a0002c0002t0001g0060 a0002c0002t0023g0121 a0002c0002t0001g0060 a0002c0002t0023g0121	2	186	0.0108	28	c.113 others(49): Show c.1136-12046_1136-12019dupTTTTTTTTTTTTTTTTTTTTTTTT TTTT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107648380	C C	CCACACAC others(21): Show CCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03041.hp1 HG01884.hp2 HG03041.hp1	a0007 a0015 a0007 a0015	a0007c0010 a0015c0022 a0007c0010 a0015c0022	a0007c0010t0005 a0015c0022t0003 a0007c0010t0005 a0015c0022t0003	a0007c0010t0005g0090 a0015c0022t0003g0048 a0007c0010t0005g0090 a0015c0022t0003g0048	2	186	0.0108	28	c.292 others(45): Show c.2923-819_2923-792dupCACACACACACACACACACACACACACA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACA_chr17_37079992_37411836	37081323	G G	GGTGTGTG others(21): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0105 a0001c0001t0011g0105	1	299	0.0033	28	c.59 others(39): Show c.5992_*5993insACACACACACACACACACACACACACAC	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding		3668		chr17	TogoVar
ACACA_chr17_37079992_37411836	37112049	A A	ACTATCTA others(21): Show ACTATCTATCTATCTATCTATCTATCTAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03540.hp2 HG02647.hp2 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0044 a0001c0004t0005g0276 a0001c0004t0005g0044 a0001c0004t0005g0276	2	299	0.0067	28	c.645 others(45): Show c.6453-434_6453-407dupATAGATAGATAGATAGATAGATAGATAG	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	51/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATATAT others(21): Show ATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01192.hp2 HG00621.hp1 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0217 a0001c0001t0001g0076 a0001c0001t0001g0217	2	299	0.0067	28	c.507 others(47): Show c.5079+5239_5079+5240insAAAAAAAAAAAATATATATATATATA TA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37268743	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0067 a0001c0007t0003g0067	1	299	0.0033	28	c.111 others(47): Show c.1119+2007_1119+2008insGATATATATATATATATATATATATA TA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	10/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37291143	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0118 a0001c0004t0005g0118	1	299	0.0033	28	c.339 others(45): Show c.339-6174_339-6173insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	3/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390304	T T	TTTTATAT others(21): Show TTTTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0042 a0001c0002t0008g0042	1	299	0.0033	28	c.38+ others(45): Show c.38+15957_38+15958insTATATATATATATATATATATATATAAA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390330	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00738.hp2 HG01070.hp1 others(8): Show HG00544.hp1 HG00738.hp2 HG01070.hp1 HG01361.hp1 HG02723.hp2 HG04184.hp1 NA18950.hp1 NA19009.hp2 NA19010.hp1 NA19057.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0024 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0024 a0001c0002t0001 a0001c0003t0006	a0001c0001t0001g0203 a0001c0001t0001g0215 a0001c0001t0001g0216 others(8): Show a0001c0001t0001g0203 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0228 a0001c0001t0001g0290 a0001c0001t0004g0188 a0001c0001t0024g0214 a0001c0002t0001g0100 a0001c0002t0001g0245 a0001c0002t0001g0270 a0001c0003t0006g0195	11	299	0.0368	28	c.38+ others(45): Show c.38+15931_38+15932insGATATATATATATATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390330	A A	ATATATAT others(21): Show ATATATATATATATATATATATATCTATC	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0246 a0005c0016t0001g0246	1	299	0.0033	28	c.38+ others(45): Show c.38+15931_38+15932insGATAGATATATATATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACB_chr12_109111587_109273226	109167621	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp1 HG01515.hp1 others(2): Show HG00735.hp1 HG01109.hp1 HG01515.hp1 HG02083.hp2 NA19084.hp2	a0003 a0005 a0003 a0005	a0003c0001 a0003c0005 a0003c0083 others(1): Show a0003c0001 a0003c0005 a0003c0083 a0005c0019	a0003c0001t0001 a0003c0005t0002 a0003c0083t0001 others(2): Show a0003c0001t0001 a0003c0005t0002 a0003c0083t0001 a0005c0019t0003 a0005c0019t0006	a0003c0001t0001g0265 a0003c0005t0002g0059 a0003c0083t0001g0151 others(2): Show a0003c0001t0001g0265 a0003c0005t0002g0059 a0003c0083t0001g0151 a0005c0019t0003g0152 a0005c0019t0006g0076	5	308	0.0162	28	c.787 others(43): Show c.787-269_787-242dupATATATATATATATATATATATATATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	3/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109210197	A A	ATATGTAT others(21): Show ATATGTATATATACACGTACATGTATGTG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03540.hp1 HG03195.hp1 HG03540.hp1	a0007 a0039 a0007 a0039	a0007c0057 a0039c0080 a0007c0057 a0039c0080	a0007c0057t0004 a0039c0080t0010 a0007c0057t0004 a0039c0080t0010	a0007c0057t0004g0207 a0039c0080t0010g0071 a0007c0057t0004g0207 a0039c0080t0010g0071	2	308	0.0065	28	c.324 others(45): Show c.3249+845_3249+846insATGTATATATACACGTACATGTATGTGT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109210239	A A	ATACACGT others(21): Show ATACACGTACATGTATGTGTGTATATATG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0007 a0007	a0007c0037 a0007c0037	a0007c0037t0004 a0007c0037t0004	a0007c0037t0004g0200 a0007c0037t0004g0200	1	308	0.0033	28	c.324 others(45): Show c.3249+887_3249+888insACACGTACATGTATGTGTGTATATATGT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109210344	C C	CATGTGTG others(21): Show CATGTGTGTATATGTATATATGTATATAT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0019 a0019	a0019c0093 a0019c0093	a0019c0093t0001 a0019c0093t0001	a0019c0093t0001g0159 a0019c0093t0001g0159	1	308	0.0033	28	c.324 others(45): Show c.3249+992_3249+993insTGTGTGTATATGTATATATGTATATATA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109222294	C C	CGAGTGAG others(21): Show CGAGTGAGTGAGTGAGTGAGTGAGTGAGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0001 a0001c0034t0001	a0001c0034t0001g0212 a0001c0034t0001g0212	1	308	0.0033	28	c.356 others(45): Show c.3565-191_3565-190insGTGAGTGAGTGAGTGAGTGAGTGAGTGA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	24/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109243877	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0009 a0009	a0009c0096 a0009c0096	a0009c0096t0009 a0009c0096t0009	a0009c0096t0009g0295 a0009c0096t0009g0295	1	308	0.0033	28	c.517 others(47): Show c.5178+1304_5178+1305insATATATATATATATATATATATATAT AT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	37/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109262950	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA18955.hp2 NA18970.hp1 others(3): Show HG01106.hp2 NA18955.hp2 NA18970.hp1 NA18981.hp2 NA19060.hp2 NA19080.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0009	a0001c0002 a0002c0021 a0004c0008 others(2): Show a0001c0002 a0002c0021 a0004c0008 a0006c0078 a0009c0025	a0001c0002t0001 a0002c0021t0006 a0004c0008t0008 others(2): Show a0001c0002t0001 a0002c0021t0006 a0004c0008t0008 a0006c0078t0001 a0009c0025t0001	a0001c0002t0001g0241 a0001c0002t0001g0242 a0002c0021t0006g0239 others(3): Show a0001c0002t0001g0241 a0001c0002t0001g0242 a0002c0021t0006g0239 a0004c0008t0008g0216 a0006c0078t0001g0181 a0009c0025t0001g0301	6	308	0.0195	28	c.678 others(45): Show c.6787+487_6787+514dupATATATATATATATATATATATATATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	49/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109262950	T T	TTTTATAT others(21): Show TTTTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0002 a0001c0029t0002	a0001c0029t0002g0108 a0001c0029t0002g0108	1	308	0.0033	28	c.678 others(45): Show c.6787+482_6787+483insTTATATATATATATATATATATATATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	49/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAD9_chr3_128874620_128918114	128898459	G G	GCAGTGGC others(21): Show GCAGTGGCACGATCTTGGCTCACTGCAGC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02055.hp2 HG02056.hp2 others(22): Show HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02258.hp1 HG02451.hp1 HG02683.hp1 HG02922.hp2 HG02970.hp1 HG03209.hp2 HG03491.hp2 HG03704.hp1 HG03927.hp1 HG03942.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18950.hp1 NA18962.hp1 NA18988.hp1 NA19030.hp1 NA19063.hp2 NA19066.hp1 NA19072.hp1 NA19091.hp1 NA20129.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0003 a0001c0004 a0001c0012 others(2): Show a0001c0003 a0001c0004 a0001c0012 a0004c0011 a0008c0013	a0001c0003t0004 a0001c0004t0004 a0001c0012t0004 others(2): Show a0001c0003t0004 a0001c0004t0004 a0001c0012t0004 a0004c0011t0004 a0008c0013t0004	a0001c0003t0004g0050 a0001c0003t0004g0054 a0001c0003t0004g0061 others(20): Show a0001c0003t0004g0050 a0001c0003t0004g0054 a0001c0003t0004g0061 a0001c0004t0004g0021 a0001c0004t0004g0022 a0001c0004t0004g0023 a0001c0004t0004g0024 a0001c0004t0004g0048 a0001c0004t0004g0049 a0001c0004t0004g0051 a0001c0004t0004g0052 a0001c0004t0004g0053 a0001c0004t0004g0055 a0001c0004t0004g0056 a0001c0004t0004g0057 a0001c0004t0004g0058 a0001c0004t0004g0059 a0001c0004t0004g0060 a0001c0004t0004g0062 a0001c0004t0004g0063 a0001c0012t0004g0023 a0004c0011t0004g0024 a0008c0013t0004g0260	25	372	0.0672	28	c.633 others(43): Show c.633+751_633+778dupAGTGGCACGATCTTGGCTCACTGCAGCC	ACAD9	ENSG00000177646.20	transcript	ENST00000308982.12	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACAD9_chr3_128874620_128918114	128898468	C C	CGATCTTG others(21): Show CGATCTTGGCTCACTGCAGCCAGTGGCAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp2 HG02622.hp2 others(5): Show HG02258.hp2 HG02572.hp2 HG02622.hp2 HG02970.hp2 HG03098.hp2 HG03516.hp2 NA18906.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0014 a0001c0002 a0001c0003 a0001c0014	a0001c0002t0002 a0001c0003t0005 a0001c0014t0005 a0001c0002t0002 a0001c0003t0005 a0001c0014t0005	a0001c0002t0002g0113 a0001c0003t0005g0037 a0001c0003t0005g0188 others(4): Show a0001c0002t0002g0113 a0001c0003t0005g0037 a0001c0003t0005g0188 a0001c0003t0005g0189 a0001c0003t0005g0191 a0001c0003t0005g0192 a0001c0014t0005g0190	8	372	0.0215	28	c.633 others(43): Show c.633+778_633+779insAGTGGCAAGATCTTGGCTCACTGCAGCC	ACAD9	ENSG00000177646.20	transcript	ENST00000308982.12	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACAD9_chr3_128874620_128918114	128900114	T T	TAGAGATG others(21): Show TAGAGATGGGGTTTCAACATGTTGCCCAG	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	372	0.0027	28	c.808 others(43): Show c.808+655_808+682dupGAGATGGGGTTTCAACATGTTGCCCAGA	ACAD9	ENSG00000177646.20	transcript	ENST00000308982.12	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACADL_chr2_210182923_210230447	210214467	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00423.hp2 others(48): Show HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01516.hp1 HG01517.hp1 HG02027.hp1 HG02027.hp2 HG02074.hp2 HG02109.hp1 HG02132.hp2 HG02165.hp2 HG02523.hp1 HG02523.hp2 HG02630.hp1 HG02698.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03579.hp1 HG03669.hp1 HG03834.hp2 HG03942.hp2 NA18943.hp1 NA18943.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18962.hp1 NA18962.hp2 NA18986.hp2 NA18995.hp1 NA19009.hp2 NA19043.hp1 NA19070.hp2 NA19082.hp1 NA19082.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 a0001c0001t0001 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0022 others(44): Show a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0132 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0180 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0225 a0001c0001t0001g0226 a0002c0002t0001g0029 a0002c0002t0001g0084 a0002c0002t0001g0124 a0002c0002t0001g0131 a0002c0002t0001g0151 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0182 a0002c0002t0001g0204 a0002c0002t0001g0229 a0003c0004t0001g0217	51	274	0.1861	28	c.536 others(45): Show c.536+1852_536+1879dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT	ACADL	ENSG00000115361.8	transcript	ENST00000233710.4	protein_coding	4/10			chr2	TogoVar
ACADL_chr2_210182923_210230447	210214509	A A	AAGAAAGA others(21): Show AAGAAAGAAAGAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02572.hp1 NA20129.hp1 HG02109.hp2 HG02572.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0184 a0001c0001t0001g0019 a0001c0001t0001g0184	3	274	0.0110	28	c.536 others(45): Show c.536+1837_536+1838insCTTTTTCTTTCTTTCTTTCTTTCTTTCT	ACADL	ENSG00000115361.8	transcript	ENST00000233710.4	protein_coding	4/10			chr2	TogoVar
ACADS_chr12_120720826_120745008	120742234	T T	TAAGGACA others(21): Show TAAGGACAAGGACGTTCACTTACAGAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0213 a0002c0004t0002g0213	1	426	0.0024	28	c.27 others(39): Show c.2786_*2787insAAGGACAAGGACGTTCACTTACAGAACA	ACADS	ENSG00000122971.9	transcript	ENST00000242592.9	protein_coding		2227		chr12	TogoVar

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