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
TUBGCP2_chr10_133273635_133313872	133292080	CCTCCGTG others(343): Show CCTCCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCCCATGTCCC CGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCC GTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGC CCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCC CTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGA GAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCGT GTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCAC A	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	284	0.0035	-350	c.121 others(16): Show c.1214+69_1214+418del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
UMODL1_chr21_42066317_42147996	42078147	AGGGCCAG others(343): Show AGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAATAGAAACCAGGC GGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAATAGAAACCAGGC GGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGGC GGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGGC CGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGGC GGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGGC GGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAGCCAGGT G	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01069.hp1 HG00621.hp2 HG01069.hp1	a0004 a0083 a0004 a0083	a0004c0006 a0083c0161 a0004c0006 a0083c0161	a0004c0006t0002 a0083c0161t0009 a0004c0006t0002 a0083c0161t0009	a0004c0006t0002g0012 a0083c0161t0009g0013 a0004c0006t0002g0012 a0083c0161t0009g0013	2	400	0.0050	-350	c.319 others(17): Show c.319+1938_319+2287del	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42078185	TAGAAACC others(343): Show TAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA TAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA CAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA CAGAAACCAGGCCGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA CAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA CAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA CAGAAGCCAGGTGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA C	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02132.hp2 others(4): Show HG02055.hp1 HG02109.hp1 HG02132.hp2 HG02280.hp2 HG02809.hp2 HG03540.hp1 HG03688.hp2	a0018 a0024 a0031 others(3): Show a0018 a0024 a0031 a0090 a0114 a0116	a0018c0132 a0024c0031 a0031c0028 others(3): Show a0018c0132 a0024c0031 a0031c0028 a0090c0098 a0114c0134 a0116c0125	a0018c0132t0006 a0024c0031t0006 a0031c0028t0006 others(3): Show a0018c0132t0006 a0024c0031t0006 a0031c0028t0006 a0090c0098t0001 a0114c0134t0001 a0116c0125t0002	a0018c0132t0006g0082 a0024c0031t0006g0077 a0024c0031t0006g0078 others(4): Show a0018c0132t0006g0082 a0024c0031t0006g0077 a0024c0031t0006g0078 a0031c0028t0006g0067 a0090c0098t0001g0068 a0114c0134t0001g0124 a0116c0125t0002g0044	7	400	0.0175	-350	c.319 others(17): Show c.319+2100_319+2449del	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42078347	CGGGCCAG others(343): Show CGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGGC GGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGGC GGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAGCCAGGT GGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGGC GGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAATAGAAACCAGGC GGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGGC GGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGGC G	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01243.hp2 HG01257.hp2 others(15): Show HG00735.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02965.hp1 HG03225.hp1 HG03453.hp2 HG06807.hp2 NA18947.hp1 NA19240.hp2	a0004 a0010 a0012 others(10): Show a0004 a0010 a0012 a0013 a0021 a0030 a0037 a0039 a0041 a0044 a0091 a0097 a0127	a0004c0033 a0010c0015 a0012c0062 others(11): Show a0004c0033 a0010c0015 a0012c0062 a0013c0019 a0021c0041 a0030c0025 a0037c0171 a0037c0173 a0039c0036 a0041c0037 a0044c0058 a0091c0111 a0097c0107 a0127c0170	a0004c0033t0002 a0010c0015t0006 a0012c0062t0001 others(12): Show a0004c0033t0002 a0010c0015t0006 a0012c0062t0001 a0013c0019t0001 a0013c0019t0037 a0021c0041t0005 a0030c0025t0013 a0037c0171t0035 a0037c0173t0001 a0039c0036t0001 a0041c0037t0015 a0044c0058t0002 a0091c0111t0001 a0097c0107t0001 a0127c0170t0030	a0004c0033t0002g0240 a0010c0015t0006g0134 a0012c0062t0001g0369 others(15): Show a0004c0033t0002g0240 a0010c0015t0006g0134 a0012c0062t0001g0369 a0013c0019t0001g0272 a0013c0019t0037g0370 a0021c0041t0005g0381 a0021c0041t0005g0382 a0030c0025t0013g0368 a0037c0171t0035g0271 a0037c0173t0001g0269 a0039c0036t0001g0380 a0039c0036t0001g0383 a0041c0037t0015g0243 a0044c0058t0002g0215 a0044c0058t0002g0216 a0091c0111t0001g0135 a0097c0107t0001g0147 a0127c0170t0030g0270	18	400	0.0450	-350	c.319 others(17): Show c.319+2150_319+2499del	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZNF516_chr18_76352682_76500242	76392933	GGGCAGGT others(343): Show GGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAG GGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGA A	G G	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0142 a0001c0001t0015g0143 a0001c0001t0015g0142 a0001c0001t0015g0143	2	346	0.0058	-350	c.181 others(21): Show c.1811-12980_1811-12631del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76392979	AGGCAGGT others(343): Show AGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA G	A A	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	346	0.0029	-350	c.181 others(21): Show c.1811-13026_1811-12677del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393025	AGGCAGGT others(343): Show AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAGGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA G	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp1 HG02257.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0008 a0001c0006t0026 a0001c0001t0008 a0001c0006t0026	a0001c0001t0008g0016 a0001c0006t0026g0277 a0001c0001t0008g0016 a0001c0006t0026g0277	2	346	0.0058	-350	c.181 others(21): Show c.1811-13072_1811-12723del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394307	GGGCAGGT others(343): Show GGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGT CAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGA A	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp2 HG02615.hp2 others(2): Show HG01884.hp2 HG02280.hp2 HG02615.hp2 HG03453.hp1 HG03471.hp2	a0001 a0017 a0001 a0017	a0001c0001 a0001c0002 a0001c0026 others(1): Show a0001c0001 a0001c0002 a0001c0026 a0017c0049	a0001c0001t0073 a0001c0001t0124 a0001c0002t0119 others(2): Show a0001c0001t0073 a0001c0001t0124 a0001c0002t0119 a0001c0026t0054 a0017c0049t0114	a0001c0001t0073g0020 a0001c0001t0124g0075 a0001c0002t0119g0018 others(2): Show a0001c0001t0073g0020 a0001c0001t0124g0075 a0001c0002t0119g0018 a0001c0026t0054g0037 a0017c0049t0114g0072	5	346	0.0145	-350	c.181 others(21): Show c.1811-14354_1811-14005del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394374	GAAGGCAG others(343): Show GAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAA GGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCA GGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTG GTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCA GGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGG C	G G	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0051 a0002c0003t0051	a0002c0003t0051g0010 a0002c0003t0051g0010	1	346	0.0029	-350	c.181 others(21): Show c.1811-14421_1811-14072del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394380	AGGTGGTC others(343): Show AGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGC G	A A	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA19054.hp1 NA19088.hp1 others(1): Show NA18940.hp2 NA19054.hp1 NA19088.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0009 a0002c0003t0051 others(1): Show a0001c0001t0002 a0001c0001t0009 a0002c0003t0051 a0002c0003t0197	a0001c0001t0002g0141 a0001c0001t0009g0140 a0002c0003t0051g0268 others(1): Show a0001c0001t0002g0141 a0001c0001t0009g0140 a0002c0003t0051g0268 a0002c0003t0197g0117	4	346	0.0116	-350	c.181 others(21): Show c.1811-14427_1811-14078del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF517_chr8_144793913_144815084	144811986	ATGGAAGC others(343): Show ATGGAAGCAAAGGCTGAGACAGAGTGGGAGAGACACCGACAGTAAAGCTC AGCCAGGTGCAGACTGCAGAATGGAAGCAAAGGCTGAGACAGGGTGGGAG AGACACCGACAGTAAAGCTCAGCCAGGTGCAGACTGCAGCCTGGAAGCAA AGGCTGAGACAGGGTGGGAGAGACACTGACAGTAAAGCTCAGCCAGGTGC AGACTGCAGAATGGAAGCAAAGGCTGAGACAGGGTGGGAGAGACAGGGAC AATAAAGCTCAGCCAGGTGCAGACTGCAGAATGGAAGCAAAGGCTGAGAC AGGGTGGGAGAGACACGGACAGTAAAGCTCAGCCAGGTGCAGACTGCAGC C	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	408	0.0025	-350	c.35 others(11): Show c.3592_*3941del	ZNF517	ENSG00000197363.11	transcript	ENST00000359971.4	protein_coding		1903		chr8	TogoVar
ZSCAN5A_chr19_56216303_56319839	56235694	CGTGGGCC others(343): Show CGTGGGCCAAGTCTCCACTCCAGCCTCTGATGGATGGTGGGCCAAGCCTC CACTCCAGTCTCTGATGGACGGTGGGCCAAGTCTCCACTCCAGCCTCTGA TGGACAGTGGGCCAAGTCTCCACTCCAGCCTCTGATGGACGGTGGGCCAA GCCTCCACTCCAGCCTCTGATGGACGGTGGGCCAAGCCTCCATTCCAGCC TCTGATGGACGGTGGGCCAAGTCTCCACTCCAGCCTCTGATGGATGGTGG GCCAAGCCTCCACTCCAGCCTCTGATGGACGGTGGGCCAAGCCTCCACTC CAGCCTCTGATTGACCGTGGGCCAAGCCTCCACTCCAACCTCTGATGGAC G	C C	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0272 a0002c0014t0001g0272	1	362	0.0028	-350	c.-12 others(21): Show c.-127-10871_-127-10522del	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
ZSCAN5A_chr19_56216303_56319839	56235935	GGATGGTG others(343): Show GGATGGTGGGCCAAGCCTCCACTCCAGCCTCTGATGGACGGTGGGCCAAG CCTCCACTCCAGCCTCTGATTGACCGTGGGCCAAGCCTCCACTCCAACCT CTGATGGACGGTGGGCCAAGCCTCCACTCCAGCCTCTGATGGACGGTGGG CCAAGTCTCCACTCCAGCCTCTGATGGACGGTGGGCCAAGCCTCCACTCC AGCCTCTGATGGACGGTGGGCCAAGTCTCCACTCCAGCCTCTGATGGACG GTGGGCCAAGCCTCCACTCCAGCCTCTGATGGACGGTGGGCCAAGCCTCC ATTCCAGCCTCTGATGGACGGTGGGCCAAGTCTCCACTCCAGCCTCTGAT T	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	362	0.0028	-350	c.-12 others(21): Show c.-127-11112_-127-10763del	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
ANKLE2_chr12_132720503_132766832	132758892	TGGATCGC others(342): Show TGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATC ACGCAGTGTGGCACCCCGGGGCACCCACGTGGCAGAGAGGATCGCTGCGG AGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATCGCTGCGGAGTGGC ACCCCGGGGCACCCACGTGGCAGAGAGGATCGCTGCGGAGTGGCACCCCG GGGCACCCACGTGGCAGAGTGGATCACGCAGAGTGGCACCCCGGGGCACC CACGTGGCAGAGAGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTG GCAGAGTGGATCATGCAGAGTGGCACCCCGGGGCACCCACGTGGCAGAGA	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0018 a0003c0003t0018	a0003c0003t0018g0319 a0003c0003t0018g0319	1	350	0.0029	-349	c.181 others(17): Show c.181+2377_181+2725del	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ARHGAP39_chr8_144524179_144690846	144602171	GTGTGTGC others(342): Show GTGTGTGCTCGTGTACCTGTGTGTGCATGGAGGCGTGCGTGCGAGCTCGT GTACCTGTGTGCATGTGCGTGGAGGTGTGTGTGTGAGCTCATGTACCTGT GTGTGTGCGTGGAGGCGTGTGTGCTCGTGTACCTGTGTGTGTGCATGGAG GCGTGCGTGCGAGCTCGTGTACCTGTATGCATGTGCATGGAGGTGTGTGT GCGAGCTCATGTACCTGTGTGTGTGCGTGGAGGCGTGTGTGTGCTTGTGT ACCTGTGTGTGTGCATGGAGTTGTGCGTGCGAGCTCGTGTACCTGTGCAT GTGCGTGGTGTGTGCGCGAGCTCATGTATCTGTGTACATGGAGGCGTGCA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0129 a0001c0002t0001g0129	1	246	0.0041	-349	c.80+ others(15): Show c.80+3015_80+3363del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	2/11			chr8	TogoVar
ATP2B2_chr3_10319023_10510586	10355772	TAGAACTA others(342): Show TAGAACTACTTGTCCTTTCCGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(176): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01071.hp2 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG04204.hp2 HG06807.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19081.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(25): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0015 a0001c0018 a0001c0019 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0001c0026 a0001c0027 a0001c0028 a0001c0030 a0001c0031 a0001c0034 a0001c0037 a0003c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(76): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0035 a0001c0001t0039 a0001c0001t0055 a0001c0001t0057 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0012 a0001c0002t0013 a0001c0002t0020 a0001c0002t0050 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0003t0038 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0004t0021 a0001c0004t0024 a0001c0004t0031 a0001c0004t0051 a0001c0004t0052 a0001c0005t0001 a0001c0005t0002 a0001c0005t0014 a0001c0005t0016 a0001c0005t0026 a0001c0005t0032 a0001c0005t0033 a0001c0005t0044 a0001c0005t0046 a0001c0006t0001 a0001c0006t0003 a0001c0007t0001 a0001c0007t0002 a0001c0007t0003 a0001c0008t0005 a0001c0009t0001 a0001c0009t0002 a0001c0009t0022 a0001c0009t0043 a0001c0010t0003 a0001c0010t0004 a0001c0010t0005 a0001c0010t0011 a0001c0011t0007 a0001c0012t0001 a0001c0012t0022 a0001c0013t0002 a0001c0013t0004 a0001c0015t0001 a0001c0018t0041 a0001c0019t0018 a0001c0021t0007 a0001c0022t0011 a0001c0023t0009 a0001c0024t0001 a0001c0026t0004 a0001c0027t0056 a0001c0028t0006 a0001c0030t0042 a0001c0031t0005 a0001c0034t0006 a0001c0037t0001 a0003c0020t0015	a0001c0001t0001g0096 a0001c0001t0001g0115 a0001c0001t0001g0142 others(175): Show a0001c0001t0001g0096 a0001c0001t0001g0115 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0168 a0001c0001t0001g0246 a0001c0001t0002g0224 a0001c0001t0003g0135 a0001c0001t0003g0141 a0001c0001t0003g0219 a0001c0001t0004g0187 a0001c0001t0005g0206 a0001c0001t0006g0145 a0001c0001t0009g0008 a0001c0001t0009g0155 a0001c0001t0009g0156 a0001c0001t0010g0286 a0001c0001t0011g0051 a0001c0001t0014g0251 a0001c0001t0014g0259 a0001c0001t0015g0108 a0001c0001t0015g0163 a0001c0001t0035g0116 a0001c0001t0039g0069 a0001c0001t0055g0207 a0001c0001t0057g0179 a0001c0002t0001g0183 a0001c0002t0002g0119 a0001c0002t0002g0229 a0001c0002t0006g0191 a0001c0002t0012g0029 a0001c0002t0012g0105 a0001c0002t0012g0107 a0001c0002t0012g0109 a0001c0002t0013g0083 a0001c0002t0013g0110 a0001c0002t0013g0225 a0001c0002t0020g0221 a0001c0002t0050g0132 a0001c0003t0001g0014 a0001c0003t0001g0018 a0001c0003t0001g0025 a0001c0003t0001g0061 a0001c0003t0001g0065 a0001c0003t0001g0067 a0001c0003t0001g0073 a0001c0003t0001g0085 a0001c0003t0001g0121 a0001c0003t0001g0128 a0001c0003t0001g0157 a0001c0003t0001g0230 a0001c0003t0001g0256 a0001c0003t0001g0257 a0001c0003t0001g0261 a0001c0003t0001g0263 a0001c0003t0001g0265 a0001c0003t0001g0268 a0001c0003t0002g0196 a0001c0003t0002g0223 a0001c0003t0003g0074 a0001c0003t0003g0078 a0001c0003t0003g0250 a0001c0003t0004g0194 a0001c0003t0007g0192 a0001c0003t0007g0193 a0001c0003t0038g0114 a0001c0004t0001g0003 a0001c0004t0001g0140 a0001c0004t0001g0152 a0001c0004t0001g0176 a0001c0004t0001g0233 a0001c0004t0001g0245 a0001c0004t0002g0032 a0001c0004t0002g0058 a0001c0004t0002g0097 a0001c0004t0002g0100 a0001c0004t0002g0126 a0001c0004t0002g0127 a0001c0004t0002g0144 a0001c0004t0002g0170 a0001c0004t0002g0211 a0001c0004t0002g0264 a0001c0004t0005g0149 a0001c0004t0005g0178 a0001c0004t0005g0180 a0001c0004t0021g0177 a0001c0004t0021g0218 a0001c0004t0024g0189 a0001c0004t0024g0190 a0001c0004t0031g0232 a0001c0004t0051g0015 a0001c0004t0052g0281 a0001c0005t0001g0013 a0001c0005t0001g0055 a0001c0005t0001g0064 a0001c0005t0001g0139 a0001c0005t0001g0174 a0001c0005t0001g0220 a0001c0005t0001g0247 a0001c0005t0001g0255 a0001c0005t0001g0272 a0001c0005t0002g0036 a0001c0005t0002g0042 a0001c0005t0002g0060 a0001c0005t0002g0095 a0001c0005t0002g0122 a0001c0005t0002g0131 a0001c0005t0002g0143 a0001c0005t0002g0234 a0001c0005t0002g0270 a0001c0005t0014g0283 a0001c0005t0016g0197 a0001c0005t0016g0253 a0001c0005t0026g0271 a0001c0005t0032g0106 a0001c0005t0033g0248 a0001c0005t0044g0081 a0001c0005t0046g0011 a0001c0006t0001g0231 a0001c0006t0003g0017 a0001c0006t0003g0033 a0001c0006t0003g0046 a0001c0006t0003g0071 a0001c0006t0003g0092 a0001c0006t0003g0094 a0001c0006t0003g0164 a0001c0006t0003g0165 a0001c0006t0003g0201 a0001c0006t0003g0288 a0001c0007t0001g0019 a0001c0007t0001g0059 a0001c0007t0001g0125 a0001c0007t0001g0151 a0001c0007t0001g0172 a0001c0007t0001g0226 a0001c0007t0001g0285 a0001c0007t0002g0117 a0001c0007t0003g0016 a0001c0007t0003g0276 a0001c0008t0005g0123 a0001c0009t0001g0043 a0001c0009t0001g0266 a0001c0009t0002g0054 a0001c0009t0002g0103 a0001c0009t0002g0237 a0001c0009t0022g0093 a0001c0009t0043g0022 a0001c0010t0003g0186 a0001c0010t0004g0098 a0001c0010t0005g0070 a0001c0010t0005g0133 a0001c0010t0005g0161 a0001c0010t0011g0203 a0001c0011t0007g0001 a0001c0011t0007g0020 a0001c0011t0007g0031 a0001c0011t0007g0200 a0001c0012t0001g0195 a0001c0012t0022g0199 a0001c0013t0002g0222 a0001c0013t0004g0080 a0001c0013t0004g0084 a0001c0015t0001g0023 a0001c0015t0001g0173 a0001c0018t0041g0241 a0001c0019t0018g0188 a0001c0021t0007g0213 a0001c0022t0011g0184 a0001c0023t0009g0280 a0001c0024t0001g0287 a0001c0026t0004g0066 a0001c0027t0056g0215 a0001c0028t0006g0275 a0001c0030t0042g0167 a0001c0031t0005g0124 a0001c0034t0006g0134 a0001c0037t0001g0045 a0003c0020t0015g0267	179	290	0.6172	-349	c.213 others(19): Show c.2136+2570_2136+2918del	ATP2B2	ENSG00000157087.20	transcript	ENST00000360273.7	protein_coding	14/22			chr3	TogoVar
CEP72_chr5_607340_658553	630670	GACCCAGT others(342): Show GACCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGGCCCAGTCCT GGTGGGGTTCTGTCCAGTGCCGGGATTTAGACCAGTCCTGGTGGGGTTCT GTCCAGTGCCGGGATTTGACCCAGTCCTGGTGGGGTTCTATCCAGTGCCG GGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGACCC AGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTAGACCAGTCCTGGTGG GGTTCTGTCCAGTGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCA GTGCCGGGATTTGACCCAGTCCTGGTGGGGTTCTGTCCAGTGCTGGATTT	G G	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0026 a0003c0003t0002g0026	1	91	0.0110	-349	c.513 others(17): Show c.513-3098_513-2750del	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11			chr5	TogoVar
CEP72_chr5_607340_658553	631528	GACCAGTC others(342): Show GACCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGGACCAGTTCTG GTGGGGTTCTGTCCAGTGCCGGGATTTGGACCAGTCCTGGTGGGGTTCTG TCCAGTGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGG GATTTAGACCAGTCCTGGTGGGGTTCTGTCCAGTGCTGGATTTGACCCAG TCCTGGTGGGGTGCTGTCCAGTGCCGGGATTTAGACCAGTCCTGGTGGGG TTCTGTCCAGTGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGT GCCGGGATTTAGACCAGTCCTGGTGGGGTTCTGTCCAGTGCTGGATTTGA	G G	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0022 a0003c0003t0002g0022	1	91	0.0110	-349	c.513 others(17): Show c.513-2240_513-1892del	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11			chr5	TogoVar
COL26A1_chr7_101357875_101564024	101467309	TAGAGAGG others(342): Show TAGAGAGGGGCTGCCGAGTGGGTCTTCTGGTTTCATGGCGAAATGCACAG GGCGGGGGGAGGATGGGGGGTGGTTTATAGATGAGCCTGAAGAGGCAGAG TCTGATTTACACAGCGCCCGAGAGATTGGTCAGACCAGGTGTGACGTTTG CATAGTGTGCGAAGAAGCTGGCCATCCCACCCCAATCTTTTATTGTGCAG ACGGGTTCTCTACCTGGCTGCTGCCATCTTGTCTGTTCCTTCCTGTACAC ATGGTTGACAAAGAAAAGGGAAGATGGGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0004 a0002c0007t0004	a0002c0007t0004g0020 a0002c0007t0004g0020	1	174	0.0058	-349	c.385 others(19): Show c.385+19526_385+19874del	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COP1_chr1_175939831_176212286	176132538	AATATATA others(342): Show AATATATACACACATATACACATATGTACGTATATATACTATATATACAC ACATATACACATATGTACGTATATATACTATATATACACACATATACACA TATGTACGTATATATACTATATATACACACATATACACATATGTACGTAT ATATACTATATATACACACATATACACATATGTACGTATATATACTATAT ATACACACATATACACATATGTACGTATATATACTATATATACACACATA TACACATATGTACGTATATATTATATATACACACATATACACATATGTAC GTATATATACTATATATACACACATATACACATATGTACGTATATATACT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0012 a0001c0006t0012	a0001c0006t0012g0268 a0001c0006t0012g0268	1	300	0.0033	-349	c.968 others(17): Show c.968+2123_968+2471del	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	8/19			chr1	TogoVar
DHRS12_chr13_51762993_51809163	51775169	TCTACAGT others(342): Show TCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCT CCTACATGTATTCTACAGTATTCTCCTACAGTATTCTACTACATGTATTC TCCTACAGTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTA CATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCT ACAGTATTCTCCTACATGTATTCTCCTACATGTATTCTCCTACAGTATTC TCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAGTATTC TCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp1 HG03579.hp2 others(1): Show HG02109.hp1 HG02280.hp1 HG03579.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0066 a0001c0001t0004g0007 a0001c0001t0004g0066	4	420	0.0095	-349	c.364 others(17): Show c.364-1484_364-1136del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DLEC1_chr3_38034208_38129025	38081361	AGAGGGGC others(342): Show AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGC CGGGCAGGGGGCTGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTG GGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG01081.hp2 others(72): Show HG00597.hp2 HG00621.hp1 HG01081.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01358.hp2 HG01361.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01993.hp1 HG02015.hp1 HG02027.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02135.hp2 HG02155.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03486.hp2 HG03516.hp2 HG03704.hp1 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp2 NA18952.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18964.hp2 NA18967.hp2 NA18977.hp2 NA18980.hp2 NA19000.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19057.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19081.hp2 NA19085.hp1 NA21309.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0007 a0016 a0024 a0026 a0027	a0001c0002 a0001c0003 a0001c0029 others(12): Show a0001c0002 a0001c0003 a0001c0029 a0001c0031 a0001c0045 a0002c0005 a0002c0020 a0002c0021 a0003c0006 a0005c0011 a0007c0012 a0016c0051 a0024c0044 a0026c0032 a0027c0048	a0001c0002t0001 a0001c0002t0002 a0001c0003t0003 others(14): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0003 a0001c0003t0004 a0001c0029t0005 a0001c0031t0003 a0001c0045t0001 a0002c0005t0001 a0002c0020t0001 a0002c0021t0001 a0003c0006t0002 a0005c0011t0001 a0007c0012t0002 a0016c0051t0002 a0024c0044t0001 a0026c0032t0002 a0027c0048t0001	a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 others(72): Show a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0166 a0001c0002t0001g0168 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0221 a0001c0002t0002g0183 a0001c0003t0003g0154 a0001c0003t0003g0155 a0001c0003t0003g0157 a0001c0003t0003g0158 a0001c0003t0003g0199 a0001c0003t0003g0200 a0001c0003t0003g0201 a0001c0003t0004g0011 a0001c0003t0004g0164 a0001c0003t0004g0165 a0001c0003t0004g0187 a0001c0003t0004g0198 a0001c0003t0004g0202 a0001c0029t0005g0135 a0001c0031t0003g0029 a0001c0045t0001g0159 a0002c0005t0001g0026 a0002c0005t0001g0032 a0002c0005t0001g0094 a0002c0005t0001g0095 a0002c0005t0001g0096 a0002c0005t0001g0126 a0002c0020t0001g0024 a0002c0020t0001g0025 a0002c0021t0001g0027 a0002c0021t0001g0111 a0003c0006t0002g0137 a0003c0006t0002g0140 a0003c0006t0002g0141 a0003c0006t0002g0142 a0003c0006t0002g0143 a0003c0006t0002g0146 a0003c0006t0002g0147 a0005c0011t0001g0176 a0007c0012t0002g0153 a0007c0012t0002g0196 a0007c0012t0002g0197 a0016c0051t0002g0145 a0024c0044t0001g0156 a0026c0032t0002g0144 a0027c0048t0001g0195	75	298	0.2517	-349	c.117 others(19): Show c.1174-2703_1174-2355del	DLEC1	ENSG00000008226.20	transcript	ENST00000308059.11	protein_coding	6/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
DLGAP2_chr8_732628_1713476	1521228	ATCTCTGG others(342): Show ATCTCTGGTTTGCACACTTGTTTTAATTTGGAATACTTGGGGGCAGGTGA TATGGGGCATCTCTGGTTTGCACACTTGTTTTAATTTGGAATACTCGGGC GGCAGGTGATATGGGGCATCTGGTTTGCACACTTGTTTTAATTTGGAATA CTCGGGGGCAGGTGATATGGAGCGTCTCTGGTTTGCACACTTGTTTTAAT TTGGAATACTCGGGCGGCAGGTGATATGGGGCATCTCTGGTTTGCACACT TGTTTTAATTTGGAATACTCGGGCGGCAGGTGATATGGGGCATCTGGTTT GCACACTTGTTTTAATTTGGAATACTCGGGGGCAGCTGATATGGGGCGTC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01071.hp2 HG01361.hp1 others(18): Show HG00639.hp1 HG01071.hp2 HG01361.hp1 HG01496.hp1 HG01891.hp2 HG02071.hp1 HG02074.hp1 HG02258.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02895.hp1 HG02895.hp2 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03710.hp1 HG03710.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0009 others(4): Show a0001c0002 a0001c0003 a0001c0009 a0001c0011 a0002c0001 a0002c0004 a0002c0007	a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 others(16): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0003t0001 a0001c0003t0006 a0001c0003t0013 a0001c0003t0014 a0001c0003t0017 a0001c0009t0012 a0001c0011t0015 a0002c0001t0001 a0002c0001t0003 a0002c0001t0007 a0002c0001t0011 a0002c0001t0020 a0002c0004t0003 a0002c0004t0018 a0002c0004t0026 a0002c0007t0008	a0001c0002t0001g0019 a0001c0002t0002g0021 a0001c0002t0010g0008 others(18): Show a0001c0002t0001g0019 a0001c0002t0002g0021 a0001c0002t0010g0008 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0006g0033 a0001c0003t0013g0007 a0001c0003t0014g0020 a0001c0003t0017g0004 a0001c0009t0012g0006 a0001c0011t0015g0002 a0002c0001t0001g0018 a0002c0001t0003g0017 a0002c0001t0003g0022 a0002c0001t0007g0038 a0002c0001t0011g0001 a0002c0001t0020g0024 a0002c0004t0003g0009 a0002c0004t0018g0010 a0002c0004t0026g0016 a0002c0007t0008g0040	21	40	0.5250	-349	c.172 others(19): Show c.172+19801_172+20149del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DTNA_chr18_34705298_34896844	34753332	TTGTGATT others(342): Show TTGTGATTTATTTATTTATTTATTTATTTATTTTATTTTTTTTTTTTTTT TATTTTTTATTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTG GAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCC GCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCGTTTTAGCTGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp2 HG02630.hp2 others(7): Show HG02055.hp1 HG02451.hp2 HG02630.hp2 HG02886.hp1 HG02922.hp2 HG03098.hp2 HG03130.hp2 HG03516.hp2 HG03579.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0002t0005 a0002c0003t0007	a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0002g0038 others(7): Show a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0002g0038 a0001c0001t0003g0004 a0001c0001t0005g0005 a0001c0001t0005g0024 a0001c0001t0006g0003 a0001c0001t0012g0007 a0001c0002t0005g0002 a0002c0003t0007g0075	10	112	0.0893	-349	c.-1- others(15): Show c.-1-2631_-1-2283del	DTNA	ENSG00000134769.23	transcript	ENST00000444659.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr18	TogoVar
IMPA1_chr8_81651914_81691325	81684493	ACTACACA others(342): Show ACTACACATAAGTATCTTTAGATACTATGTGTAGTATATATACTACACAT AAGTATCTTTAGATACTAATGTGTAGTATATATACTACACATAAGTATCT TTAGATATATATATCTAGTATATATATACTACACATAAGTATATATACTA CACATAAGTATATATACTACACATAAGTATATTTAGATACTATGTGGAGT ATAAATACTACACATAAGTATATTTAGATACTATGTGGAGTATATATACT ACACATAAGTATATTTAGATACTATGTGGAGTATATATACTACACATAAG TATATTTAGATACTATGTGGAGTATATATACTATACATAGTATCTATGTG	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0244 a0001c0001t0011g0244	1	380	0.0026	-349	c.-25 others(17): Show c.-25+1410_-25+1758del	IMPA1	ENSG00000133731.10	transcript	ENST00000256108.10	protein_coding	1/8			chr8	TogoVar
MGAM_chr7_141990879_142111747	142043242	TATATATA others(342): Show TATATATACATATAATATCTAAATATAATATATATATTATATATACATAT AATATCTAAATATAATATATATATTATATATACATATAATATCTAAATAT AATATCTATATTATATATACATATAATATCTAAATATAATATCTATATTA TATATACATATAATATCTAAATATAATATCTATATTATATATACATATAA TATCTAAATATAATATATATATTATATATACATATAATATCTAAATATAA TATATATATTATATATACATATAATATCTAAATATAATATGAATTATATA GATATATCTAAATATATATATTATATATACATATGATATCTAAATATATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00741.hp1 HG01081.hp1 others(5): Show HG00280.hp1 HG00741.hp1 HG01081.hp1 HG01106.hp1 HG02257.hp1 HG02602.hp2 HG03139.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0009 others(3): Show a0002 a0003 a0009 a0021 a0040 a0053	a0002c0009 a0003c0003 a0003c0061 others(4): Show a0002c0009 a0003c0003 a0003c0061 a0009c0068 a0021c0104 a0040c0059 a0053c0097	a0002c0009t0001 a0003c0003t0001 a0003c0061t0001 others(4): Show a0002c0009t0001 a0003c0003t0001 a0003c0061t0001 a0009c0068t0001 a0021c0104t0001 a0040c0059t0001 a0053c0097t0001	a0002c0009t0001g0013 a0002c0009t0001g0153 a0003c0003t0001g0183 others(5): Show a0002c0009t0001g0013 a0002c0009t0001g0153 a0003c0003t0001g0183 a0003c0061t0001g0076 a0009c0068t0001g0213 a0021c0104t0001g0049 a0040c0059t0001g0009 a0053c0097t0001g0077	8	316	0.0253	-349	c.249 others(19): Show c.2498+2418_2498+2766del	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
NCBP3_chr17_3797158_3851246	3837104	TGCCACTG others(342): Show TGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCTTCTCAAAAAA AAAATAAAAAATAAAAATAAATAAATAAAAATTACCTGAGAAGATATAAA AAGAATAACTATCAGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGTTCAAGACCAGC CTGGCCAAGATGGTGAAACCCCATCTCTACTAAAACTACAAAAATTAGCT GGGCACGGTGGCAGGTGCCTGTAATCCTAGCTACTCAGGAGGCTGAAGCA GGAGAATCGCTTGAACCCGGGCGGCAGAGGTTGCAGTGAGCCGAGATCGC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0053 a0001c0001t0053g0053	1	370	0.0027	-349	c.355 others(17): Show c.355+2647_355+2995del	NCBP3	ENSG00000074356.17	transcript	ENST00000389005.6	protein_coding	3/12			chr17	TogoVar
PATJ_chr1_61737480_62168915	61924914	CAAAAAGA others(342): Show CAAAAAGACAGACAGGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAC CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCGGGCGTA GTGGCGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTG CACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(149): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02040.hp1 HG02040.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18983.hp1 NA18983.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA20129.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(58): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0033 a0034 a0035 a0036 a0038 a0039 a0040 a0041 a0042 a0043 a0044 a0045 a0046 a0047 a0048 a0049 a0050 a0051 a0052 a0053 a0054 a0055 a0056 a0057 a0058 a0059 a0060 a0061 a0062 a0063	a0001c0001 a0001c0008 a0001c0021 others(129): Show a0001c0001 a0001c0008 a0001c0021 a0001c0022 a0001c0024 a0001c0026 a0001c0046 a0001c0047 a0001c0048 a0001c0058 a0001c0059 a0001c0088 a0001c0092 a0001c0093 a0001c0104 a0001c0105 a0002c0012 a0002c0020 a0002c0029 a0002c0030 a0002c0049 a0002c0061 a0002c0094 a0002c0095 a0002c0106 a0003c0003 a0003c0009 a0003c0055 a0003c0099 a0003c0100 a0004c0011 a0004c0045 a0004c0056 a0004c0057 a0004c0091 a0004c0101 a0004c0102 a0005c0006 a0005c0013 a0005c0031 a0005c0050 a0005c0107 a0006c0014 a0006c0040 a0006c0068 a0006c0070 a0006c0113 a0006c0114 a0007c0042 a0007c0071 a0007c0072 a0007c0117 a0007c0122 a0007c0123 a0007c0124 a0008c0016 a0008c0017 a0008c0041 a0008c0069 a0008c0119 a0009c0051 a0009c0052 a0009c0054 a0009c0096 a0009c0097 a0009c0098 a0010c0005 a0010c0023 a0010c0025 a0011c0015 a0011c0125 a0011c0126 a0012c0084 a0013c0004 a0013c0062 a0014c0002 a0015c0039 a0015c0064 a0016c0036 a0016c0110 a0017c0032 a0017c0033 a0018c0010 a0019c0115 a0019c0116 a0020c0127 a0020c0128 a0021c0112 a0021c0118 a0022c0018 a0023c0120 a0023c0121 a0024c0043 a0024c0076 a0025c0082 a0025c0083 a0026c0134 a0027c0135 a0028c0136 a0029c0133 a0030c0075 a0031c0130 a0033c0132 a0034c0090 a0035c0089 a0036c0019 a0038c0037 a0039c0109 a0040c0035 a0041c0103 a0042c0027 a0043c0060 a0044c0028 a0045c0065 a0046c0053 a0047c0108 a0048c0063 a0049c0034 a0050c0044 a0051c0066 a0052c0111 a0053c0067 a0054c0129 a0055c0073 a0056c0074 a0057c0085 a0058c0086 a0059c0087 a0060c0077 a0061c0078 a0062c0080 a0063c0081	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(138): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0008t0001 a0001c0008t0016 a0001c0021t0001 a0001c0022t0029 a0001c0024t0001 a0001c0026t0001 a0001c0046t0016 a0001c0047t0035 a0001c0048t0009 a0001c0058t0002 a0001c0059t0009 a0001c0088t0010 a0001c0092t0006 a0001c0093t0004 a0001c0104t0014 a0001c0105t0006 a0002c0012t0005 a0002c0012t0010 a0002c0020t0025 a0002c0029t0001 a0002c0030t0005 a0002c0049t0004 a0002c0061t0006 a0002c0094t0002 a0002c0095t0002 a0002c0106t0012 a0003c0003t0003 a0003c0003t0004 a0003c0003t0017 a0003c0009t0011 a0003c0055t0004 a0003c0099t0006 a0003c0100t0003 a0004c0011t0001 a0004c0045t0002 a0004c0056t0002 a0004c0057t0004 a0004c0091t0001 a0004c0101t0017 a0004c0102t0002 a0005c0006t0001 a0005c0013t0001 a0005c0013t0015 a0005c0031t0015 a0005c0050t0026 a0005c0107t0003 a0006c0014t0004 a0006c0040t0023 a0006c0068t0011 a0006c0070t0019 a0006c0113t0003 a0006c0114t0002 a0007c0042t0005 a0007c0071t0005 a0007c0072t0036 a0007c0117t0002 a0007c0122t0002 a0007c0123t0001 a0007c0124t0001 a0008c0016t0003 a0008c0017t0004 a0008c0017t0012 a0008c0041t0005 a0008c0069t0003 a0008c0119t0009 a0009c0051t0003 a0009c0052t0003 a0009c0054t0004 a0009c0096t0003 a0009c0097t0034 a0009c0098t0004 a0010c0005t0001 a0010c0005t0018 a0010c0023t0007 a0010c0025t0001 a0011c0015t0002 a0011c0125t0001 a0011c0126t0002 a0012c0084t0002 a0013c0004t0001 a0013c0062t0001 a0014c0002t0003 a0015c0039t0002 a0015c0064t0001 a0016c0036t0028 a0016c0110t0002 a0017c0032t0005 a0017c0033t0006 a0018c0010t0004 a0019c0115t0001 a0019c0116t0002 a0020c0127t0008 a0020c0128t0001 a0021c0112t0024 a0021c0118t0003 a0022c0018t0004 a0023c0120t0012 a0023c0121t0002 a0024c0043t0030 a0024c0076t0001 a0025c0082t0001 a0025c0083t0002 a0026c0134t0002 a0027c0135t0008 a0028c0136t0013 a0029c0133t0014 a0030c0075t0003 a0031c0130t0001 a0033c0132t0003 a0034c0090t0008 a0035c0089t0004 a0036c0019t0001 a0038c0037t0005 a0039c0109t0001 a0040c0035t0022 a0041c0103t0020 a0042c0027t0018 a0043c0060t0001 a0044c0028t0002 a0045c0065t0033 a0046c0053t0002 a0047c0108t0001 a0048c0063t0027 a0049c0034t0005 a0050c0044t0006 a0051c0066t0001 a0052c0111t0021 a0053c0067t0003 a0054c0129t0002 a0055c0073t0004 a0056c0074t0019 a0057c0085t0007 a0058c0086t0013 a0059c0087t0007 a0060c0077t0032 a0061c0078t0004 a0062c0080t0003 a0063c0081t0031	a0001c0001t0001g0019 a0001c0001t0002g0076 a0001c0001t0002g0151 others(149): Show a0001c0001t0001g0019 a0001c0001t0002g0076 a0001c0001t0002g0151 a0001c0001t0010g0014 a0001c0008t0001g0067 a0001c0008t0016g0047 a0001c0021t0001g0113 a0001c0022t0029g0111 a0001c0024t0001g0139 a0001c0026t0001g0116 a0001c0046t0016g0106 a0001c0047t0035g0126 a0001c0048t0009g0080 a0001c0058t0002g0095 a0001c0059t0009g0045 a0001c0088t0010g0016 a0001c0092t0006g0158 a0001c0093t0004g0051 a0001c0104t0014g0114 a0001c0105t0006g0004 a0002c0012t0005g0130 a0002c0012t0010g0150 a0002c0020t0025g0112 a0002c0029t0001g0138 a0002c0030t0005g0121 a0002c0049t0004g0029 a0002c0061t0006g0046 a0002c0094t0002g0002 a0002c0095t0002g0030 a0002c0106t0012g0104 a0003c0003t0003g0094 a0003c0003t0004g0093 a0003c0003t0017g0015 a0003c0009t0011g0038 a0003c0009t0011g0065 a0003c0055t0004g0087 a0003c0099t0006g0009 a0003c0100t0003g0008 a0004c0011t0001g0012 a0004c0011t0001g0152 a0004c0045t0002g0081 a0004c0056t0002g0125 a0004c0057t0004g0096 a0004c0091t0001g0057 a0004c0101t0017g0098 a0004c0102t0002g0031 a0005c0006t0001g0044 a0005c0006t0001g0079 a0005c0013t0001g0103 a0005c0013t0015g0156 a0005c0031t0015g0119 a0005c0050t0026g0082 a0005c0107t0003g0033 a0006c0014t0004g0053 a0006c0014t0004g0148 a0006c0040t0023g0123 a0006c0068t0011g0097 a0006c0070t0019g0025 a0006c0113t0003g0055 a0006c0114t0002g0157 a0007c0042t0005g0136 a0007c0071t0005g0108 a0007c0072t0036g0042 a0007c0117t0002g0060 a0007c0122t0002g0064 a0007c0123t0001g0017 a0007c0124t0001g0003 a0008c0016t0003g0005 a0008c0016t0003g0153 a0008c0017t0004g0059 a0008c0017t0012g0022 a0008c0041t0005g0124 a0008c0069t0003g0077 a0008c0119t0009g0154 a0009c0051t0003g0092 a0009c0052t0003g0088 a0009c0054t0004g0127 a0009c0096t0003g0010 a0009c0097t0034g0052 a0009c0098t0004g0011 a0010c0005t0001g0129 a0010c0005t0018g0107 a0010c0023t0007g0072 a0010c0025t0001g0140 a0011c0015t0002g0023 a0011c0125t0001g0001 a0011c0126t0002g0026 a0012c0084t0002g0035 a0013c0004t0001g0028 a0013c0004t0001g0115 a0013c0062t0001g0102 a0014c0002t0003g0084 a0014c0002t0003g0090 a0014c0002t0003g0091 a0015c0039t0002g0109 a0015c0064t0001g0142 a0016c0036t0028g0145 a0016c0110t0002g0134 a0017c0032t0005g0146 a0017c0033t0006g0120 a0018c0010t0004g0034 a0018c0010t0004g0037 a0019c0115t0001g0007 a0019c0116t0002g0069 a0020c0127t0008g0024 a0020c0128t0001g0020 a0021c0112t0024g0006 a0021c0118t0003g0021 a0022c0018t0004g0054 a0022c0018t0004g0062 a0023c0120t0012g0061 a0023c0121t0002g0068 a0024c0043t0030g0083 a0024c0076t0001g0048 a0025c0082t0001g0039 a0025c0083t0002g0050 a0026c0134t0002g0105 a0027c0135t0008g0137 a0028c0136t0013g0099 a0029c0133t0014g0101 a0030c0075t0003g0089 a0031c0130t0001g0056 a0033c0132t0003g0027 a0034c0090t0008g0018 a0035c0089t0004g0066 a0036c0019t0001g0141 a0038c0037t0005g0135 a0039c0109t0001g0133 a0040c0035t0022g0117 a0041c0103t0020g0074 a0042c0027t0018g0144 a0043c0060t0001g0128 a0044c0028t0002g0118 a0045c0065t0033g0043 a0046c0053t0002g0058 a0047c0108t0001g0132 a0048c0063t0027g0100 a0049c0034t0005g0122 a0050c0044t0006g0071 a0051c0066t0001g0131 a0052c0111t0021g0073 a0053c0067t0003g0110 a0054c0129t0002g0147 a0055c0073t0004g0078 a0056c0074t0019g0041 a0057c0085t0007g0085 a0058c0086t0013g0013 a0059c0087t0007g0075 a0060c0077t0032g0049 a0061c0078t0004g0070 a0062c0080t0003g0032 a0063c0081t0031g0040	152	158	0.9620	-349	c.357 others(19): Show c.3571-2799_3571-2451del	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	26/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PERM1_chr1_970198_987093	976747	CCAACCCC others(342): Show CCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCC TCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAA CCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCC ACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCC GGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCC CCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAAC CGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCG	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01109.hp1 HG01891.hp2 others(5): Show HG00558.hp2 HG01109.hp1 HG01891.hp2 HG02155.hp1 HG02809.hp2 HG03486.hp2 NA18906.hp1 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0021 a0003c0003t0004g0024 a0003c0003t0004g0066 others(3): Show a0003c0003t0004g0021 a0003c0003t0004g0024 a0003c0003t0004g0066 a0003c0003t0004g0072 a0003c0003t0004g0073 a0003c0003t0004g0236	8	408	0.0196	-349	c.215 others(17): Show c.2150-472_2150-124del	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PFKFB3_chr10_6197932_6240532	6210537	TTTTTAAT others(342): Show TTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGATAGTG TTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGATAGTG TTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGATAGTG TTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGATAGTG TTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGATAGTG TTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGATAGTG TTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGATAGTG	T T	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0337 a0001c0001t0022g0337	1	432	0.0023	-349	c.77- others(15): Show c.77-3081_77-2733del	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKFB3_chr10_6197932_6240532	6210575	GTCTTGAT others(342): Show GTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATA GTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATA GTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATA GTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATA GTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATA GTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATA GTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCGTGTTAGCCAGGATA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0328 a0001c0001t0004g0328	1	432	0.0023	-349	c.77- others(15): Show c.77-3047_77-2699del	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14			chr10	TogoVar
PLEKHN1_chr1_961482_980865	976747	CCAACCCC others(342): Show CCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCC TCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAA CCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCC ACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCC GGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCC CCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAAC CGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG01109.hp1 HG01891.hp2 others(5): Show HG00558.hp1 HG01109.hp1 HG01891.hp2 HG02155.hp2 HG02809.hp1 HG03486.hp2 NA18906.hp1 NA21309.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0008	a0001c0012 a0003c0005 a0005c0014 others(2): Show a0001c0012 a0003c0005 a0005c0014 a0005c0025 a0008c0016	a0001c0012t0001 a0003c0005t0004 a0005c0014t0004 others(2): Show a0001c0012t0001 a0003c0005t0004 a0005c0014t0004 a0005c0025t0004 a0008c0016t0004	a0001c0012t0001g0045 a0003c0005t0004g0025 a0003c0005t0004g0103 others(3): Show a0001c0012t0001g0045 a0003c0005t0004g0025 a0003c0005t0004g0103 a0005c0014t0004g0012 a0005c0025t0004g0031 a0008c0016t0004g0014	8	422	0.0190	-349	c.21 others(11): Show c.2173_*2521del	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		883		chr1	TogoVar
PXMP4_chr20_33697758_33725310	33699560	GGGGGGTC others(342): Show GGGGGGTCAGCCCCCCGCCCGGCCAGCTGCCTCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAATGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCA GCCGCCTCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTG GGAAATGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0117 a0001c0001t0043g0117	1	388	0.0026	-349	c.77 others(11): Show c.7797_*8145del	PXMP4	ENSG00000101417.12	transcript	ENST00000409299.8	protein_coding		3197		chr20	TogoVar
PXMP4_chr20_33697758_33725310	33699761	CCGCCTCG others(342): Show CCGCCTCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAATGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTG GGGGGTCAGCCCCCCGCCTGGCCAGCCGCCTCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAATGAGGAGCCCCTCTGCCCGGC CAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGTCAGCCCCCCGCCCGGCCAGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0076 a0002c0002t0009g0076	1	388	0.0026	-349	c.75 others(11): Show c.7596_*7944del	PXMP4	ENSG00000101417.12	transcript	ENST00000409299.8	protein_coding		2996		chr20	TogoVar
RBFOX1_chr16_6014024_7718340	7008651	TCCTCCCT others(342): Show TCCTCCCTTCCTCCCTCCCTCCCTTCCTCCTCCCTTCCTCCCTCCCTCCC TTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTT CCTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCTCCCTTCCTCCCTC CCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTC CCTCCCTCACTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCC TCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0022 a0001c0001t0042g0022	1	68	0.0147	-349	c.-15 others(19): Show c.-15-43376_-15-43028del	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
SGSM2_chr17_2332501_2386054	2356429	TGGGGGCA others(342): Show TGGGGGCAGGGGCCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGGT TGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGGT TGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGGT TGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGAT TGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGGTT GGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGATT GGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGGTTG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18612.hp1 HG02622.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0357 a0001c0001t0002g0022 a0001c0001t0001g0357 a0001c0001t0002g0022	2	422	0.0047	-349	c.134 others(17): Show c.134-5203_134-4855del	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
TMEM178B_chr7_141069064_141485380	141085584	ATTCTGGA others(342): Show ATTCTGGAGCTCACTCTGTTGGACACTTTATTTGCTCTGGAGTCCCTCTC ATTCAGTTTTGCCCTCAATTTCTCTTCATCTTTATAATAGTGATTCTATT TAGGCAATGCAGCTCCATTTCCCCAAGGGCCTGGAGTATTCACAGGCCTG GATGGGCTAGGGTTGTTTTTACCTGAAAGAAGCTCCATGCTCAGGCGATG CTGCCTGCTCACTGGCACAACACTGGAGAGAGATGAGGTACTCTCTCATG AGGTTGAAGACGTGCGTGCCTGTGGCCCGGCCCTTCCACTTATGAGCACG TGAAGCCCATCCAAGAATGTCCATGGCACCACTGTTTGTGACGGTATCAC	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	80	0.0125	-349	c.382 others(19): Show c.382+10893_382+11241del	TMEM178B	ENSG00000261115.7	transcript	ENST00000565468.6	protein_coding	1/3			chr7	TogoVar
XPNPEP3_chr22_40852148_40937815	40895126	AATTGCCT others(342): Show AATTGCCTGGCATCCATGGGCAAATAATTGAAAGGAGGGATCCTAGGAGG AAAAGACTACTTGCTCATGAATCTGATGATTCTTTCACATAGATCCCCTG GTAGCATGCTGCATATAGTTCATTTCCATTTTATGACAGAACTTCTTTGG ACATTGTCCATCTTATTGAAATGCATTTCTTTTTTTCTTTTTAATAGAGA TTAGTGCTTTTCTTTTCTTTTTTTTTTTGAGGCAGAGTTTTGATCTGTCG CCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCTT CCCGGGTTCAAGTGATTCTCTGCCTCAGCCTCCCAAGTAGCTGGGATTAC	A A	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18989.hp2 NA18967.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0198 a0001c0001t0002g0184 a0001c0001t0002g0198	2	248	0.0081	-349	c.792 others(17): Show c.792+8613_792+8961del	XPNPEP3	ENSG00000196236.13	transcript	ENST00000357137.9	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
ZNF517_chr8_144793913_144815084	144811533	CGACAGTA others(342): Show CGACAGTAAAGCTCAGCCAGGTGCAGACTGCAGCCTGGAAGCAAAGGCTG AGACAGGGTGGGAGAGACACGGACAGTAAAGCTCAGCCAGGTGCAGACTG CAGAATGGAAGCAAAGGCTGAGACAGAGTGGGAGAGACACCGACAGTAAA GCTCAGCCAGGTGCAGACTGCAGCGTGGAAGCAAAGGCTGAGACAGGGTG GGAGAGACACGGACAGTACGCTCAGCCAGGTGCAGACTGCAGCCTGGAAG CAAAGGCTGAGACAGGGTGGGAGAGACACGGACAGTAAAGCTCAGCCAGG TGCAGACTGCAGAATGGAAGCAAAGGCTGAGACAGGGTGGGAGAGACACG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	408	0.0025	-349	c.31 others(11): Show c.3139_*3487del	ZNF517	ENSG00000197363.11	transcript	ENST00000359971.4	protein_coding		1450		chr8	TogoVar
ADGRE5_chr19_14376444_14413723	14387563	CTAAAAAT others(341): Show CTAAAAATACAAAAAATTAGCCGGGTGTGGTGGTGGACGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAAGCGGA GCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGA GTGAGACTCCGTTTCAAAAAAAAAAATTATTTTTAATTTTTTGGCCTGGC ATGATAAATTATTTTATTTTAAAAATTTTGAGTCAGGAAATGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGCAGATCACCTGAGG TCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTAG	C C	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0231 a0002c0002t0001g0231	1	374	0.0027	-348	c.23- others(13): Show c.23-854_23-507del	ADGRE5	ENSG00000123146.20	transcript	ENST00000242786.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
AKAP17A_chrX_1586604_1607520	1596507	CCCTCCTA others(341): Show CCCTCCTAGTGAGGCGGAATCCTCCTCTTCCTCCTCCATCCCTCCCACCC TCCTAGTGAGGTGGATTCCTCCTCCTCCTCCTCCATCCCTCCCACCCTCC TAGTGAGGTGGATTCCTCCTCCTCCTCCTCCATCCCTCCCACCCTCCTAG TGAGGTGGATTCCTCCTCCTCCTCCTCCATCCCTCCCACCCTCCTAGTGA GGTGGATTCCTCCTCCTCCTTCTCCGTCCCTCCCACCCTCCTAGTGAGGT GGATTCCTCCTCCTCCTCCTCTTCCTCCTCCATCCCTCCCGCTGTGCCCT CCTAGTGAGGCGGATTCGTCCTCTTCCTCCTCCATCCCTCCTGCCGTGT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0071 a0002c0003t0004g0071	1	151	0.0066	-348	c.911 others(16): Show c.911+989_911+1336del	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
CLIC4_chr1_24740447_24849321	24799665	CCGCCCGG others(341): Show CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCT GCCCGGCCAGCTGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCG GGGGGGGGGGTCAGCCCCCCCACCTGGCCAGCCGCCCCGTCTGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03098.hp1 HG02630.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0182 a0001c0001t0002g0116 a0001c0001t0002g0182	2	344	0.0058	-348	c.182 others(17): Show c.182+1815_182+2162del	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	2/5			chr1	TogoVar
CLPTM1L_chr5_1312752_1350099	1327427	CATATTTC others(341): Show CATATTTCATCCAGCTCCTCCTCTACAGGGACATTCCATCCAGCTCCTCC TCTACAGGGACATTTCATCCAGCTCCTCCTCTACAGGGACATTCCATCCA GCTCCTCCTCTACAGGGACATTCCATCCAGCTCCTGCTCTACAGGGACAT TCCATCCAGCTCCTCCTCTACAGACACATTTCATCCAGCTCCTCCTCTAC AGACACATTCCACCCAGCTCCTCCTCTACAGACACATTTCATCCAGCTCC TCCTCTACAGACACATTTCATCCTGCTCCTCCTCTACAGGGACATTTCAT CCAGCTCCTCCTCTACAGGGACATTCCACCCAGCTCCTCCTCTACAGGG	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	370	0.0027	-348	c.108 others(19): Show c.1081-1959_1081-1612del	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CNN2_chr19_1021608_1044065	1034462	CGGTGTCT others(341): Show CGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTA GACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGT GGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGG TGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGC GTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGT GTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGG GAGCGTGGGTGGGACACATTGTCTGGTGTAGACCGGGAGCGTGGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02965.hp1 HG03139.hp2 others(2): Show HG02486.hp1 HG02965.hp1 HG03139.hp2 NA18522.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0003t0033 a0001c0001t0001 a0001c0001t0005 a0001c0003t0033	a0001c0001t0001g0170 a0001c0001t0005g0034 a0001c0001t0005g0165 others(2): Show a0001c0001t0001g0170 a0001c0001t0005g0034 a0001c0001t0005g0165 a0001c0001t0005g0251 a0001c0003t0033g0164	5	390	0.0128	-348	c.391 others(17): Show c.391-1667_391-1320del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6			chr19	TogoVar
CNTN4_chr3_2093866_3062959	2269902	GTTTGTTT others(341): Show GTTTGTTTGTTTGTTTATTTATTTATTTATTTATTTATTTATTTATTTAT TTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGAC TGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCC ACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCT TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCG GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00639.hp1 others(46): Show HG00140.hp2 HG00438.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01169.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01978.hp2 HG02074.hp1 HG02074.hp2 HG02132.hp1 HG02132.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp2 HG02897.hp1 HG02965.hp2 HG03209.hp2 HG03239.hp2 HG03486.hp1 HG03654.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04184.hp2 HG06807.hp1 NA18990.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0013 a0001c0020 a0001c0021 a0001c0023 a0002c0014 a0004c0011 a0008c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0012 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0004t0001 a0001c0004t0002 a0001c0004t0006 a0001c0005t0001 a0001c0005t0006 a0001c0006t0002 a0001c0007t0003 a0001c0007t0004 a0001c0007t0016 a0001c0009t0004 a0001c0009t0014 a0001c0013t0007 a0001c0020t0002 a0001c0021t0002 a0001c0023t0004 a0002c0014t0001 a0004c0011t0003 a0008c0026t0017	a0001c0001t0001g0012 a0001c0001t0001g0049 a0001c0001t0001g0059 others(46): Show a0001c0001t0001g0012 a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0001t0005g0054 a0001c0001t0005g0115 a0001c0001t0008g0089 a0001c0002t0001g0038 a0001c0002t0002g0035 a0001c0002t0002g0078 a0001c0002t0004g0017 a0001c0002t0005g0002 a0001c0002t0006g0071 a0001c0002t0012g0013 a0001c0003t0001g0014 a0001c0003t0001g0037 a0001c0003t0001g0045 a0001c0003t0001g0094 a0001c0003t0001g0116 a0001c0003t0002g0072 a0001c0003t0002g0073 a0001c0003t0002g0107 a0001c0003t0003g0015 a0001c0003t0003g0046 a0001c0004t0001g0036 a0001c0004t0001g0106 a0001c0004t0002g0022 a0001c0004t0002g0048 a0001c0004t0006g0068 a0001c0005t0001g0092 a0001c0005t0001g0096 a0001c0005t0006g0032 a0001c0006t0002g0026 a0001c0007t0003g0034 a0001c0007t0004g0066 a0001c0007t0016g0105 a0001c0009t0004g0005 a0001c0009t0014g0039 a0001c0013t0007g0056 a0001c0020t0002g0082 a0001c0021t0002g0025 a0001c0023t0004g0041 a0002c0014t0001g0016 a0004c0011t0003g0065 a0004c0011t0003g0111 a0008c0026t0017g0047	49	116	0.4224	-348	c.-14 others(21): Show c.-144-69272_-144-68925del	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSMD1_chr8_2930361_4999914	3795681	TCATGTAT others(341): Show TCATGTATAGATATAGATATATATCTATCAAGTACAGCTATAGATATCTA TCATGTACAGCTATAGATACCTATCATGTACAGCTATAGATACCTATCAT GTACAGATATAGATATATACCTATCATGTACAGATATAGATATATATCTA TCATGTACAGATATAGATATATATCTATCATGTACAGATATAGATATATA TCTATCATGTACAGATATATATATCATGTACAGATATAGATATCTATCAT GTACAGATATAGATATCTATCATGTACAGATATAGATATCTATCATGTAC AGATATAGATATATATCTATCATGTATATAGATATATATCATGTATAGA	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0107 a0001c0003t0019g0107	1	126	0.0079	-348	c.819 others(19): Show c.819-41987_819-41640del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CTSS_chr1_150725188_150770778	150729225	TCAGACGG others(341): Show TCAGACGGGGTGGTTGCCAGGCAGAGGGTCTCCTCACTTCTCAGACGGGG CGGCCGGGCAGAGACGCTCCTCACCTCCCAGACAGGGTCTCGGCCGGGCA GAGGCGCTCCTCACATCCCAGATGGGGCGGCGGGGCAGAGGCGCTCCCCA CATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATG TGATGGCGGCTGGGAAGAGGCCTCCTCACTTCCTAGATGGGATGGCGGCC GGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCT CCTCACATCCCAGACGATGGGCGGCCAGGCAGAGACACTCCTCACTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp2 others(106): Show HG00140.hp2 HG00323.hp1 HG00408.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01074.hp2 HG01109.hp1 HG01255.hp2 HG01257.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp2 HG02132.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp2 HG02602.hp1 HG02647.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03209.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18944.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18986.hp1 NA18989.hp1 NA18995.hp1 NA19001.hp1 NA19005.hp1 NA19006.hp1 NA19009.hp2 NA19010.hp2 NA19057.hp2 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19070.hp2 NA19078.hp1 NA19079.hp2 NA19085.hp2 NA19090.hp1 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0015 a0002c0002t0002 a0002c0002t0004 others(4): Show a0001c0001t0015 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0009 a0002c0002t0010	a0001c0001t0015g0273 a0002c0002t0002g0002 a0002c0002t0002g0004 others(83): Show a0001c0001t0015g0273 a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0008 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0040 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0060 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0004g0036 a0002c0002t0004g0037 a0002c0002t0004g0038 a0002c0002t0004g0039 a0002c0002t0004g0041 a0002c0002t0004g0045 a0002c0002t0005g0049 a0002c0002t0005g0059 a0002c0002t0005g0062 a0002c0002t0005g0082 a0002c0002t0005g0083 a0002c0002t0005g0090 a0002c0002t0007g0078 a0002c0002t0009g0061 a0002c0002t0010g0087	109	344	0.3169	-348	c.34 others(11): Show c.3473_*3820del	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding		962		chr1	TogoVar
DIP2C_chr10_269201_694668	447398	GGGGCAGC others(341): Show GGGGCAGCAGGACCCACTCATCCCCATCTATACTCAGGATCACACACAGT GGGGCAGCAGGACCCGCTCACTCCCATCGATACTCAGGATCACACACAGT GGGGCAGCAGGACCCGCTCACTCCCATCAATACTCAGGATCACATGCAGT GGGGCAGCAGGACCCACTCACCCGTCGATAATCAGGATCACACACAGTGG GGCAGCAGGACCCACTCATCCCTGTCTATACTCAGGATCACACACAGTGG GGCAGCAGGACCCAATCACCCCCATTGATATTCAGGATCACACACAGTGG GGCAGCAGGACCCGCTCACTCCCACTGATGCTCAGGATCACACACAGTA	G G	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0053 a0001c0003t0002g0053	1	88	0.0114	-348	c.269 others(17): Show c.269-6750_269-6403del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	3/36			chr10	TogoVar
DLEC1_chr3_38034208_38129025	38081439	GGGGGGCT others(341): Show GGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGATGGGGCGGCTGGCCGGGCAGGGGGCTGAGCCCCTCACCTCC CGGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCC GGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC	G G	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0191 a0001c0002t0001g0191	1	298	0.0034	-348	c.117 others(19): Show c.1174-2713_1174-2366del	DLEC1	ENSG00000008226.20	transcript	ENST00000308059.11	protein_coding	6/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
EDIL3_chr5_83935554_84389880	84319173	GAAGAAAT others(341): Show GAAGAAATAGGAATGCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAATTAGCCGG GCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCAGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGC CACAGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAA AAAACAAAAAACAAAAAACAACAAAAAAAAAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(67): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00558.hp2 HG00642.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01884.hp2 HG01891.hp1 HG02015.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02738.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03471.hp2 HG03486.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03704.hp2 HG03831.hp1 HG03927.hp2 HG04184.hp2 NA18747.hp1 NA18944.hp1 NA18946.hp2 NA18949.hp1 NA18957.hp2 NA18969.hp2 NA19058.hp1 NA19062.hp2 NA19083.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0004t0003 a0001c0004t0010 a0003c0005t0015	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0019 others(67): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0059 a0001c0001t0001g0094 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0044 a0001c0001t0002g0053 a0001c0001t0002g0075 a0001c0001t0002g0105 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0003g0006 a0001c0001t0003g0009 a0001c0001t0003g0104 a0001c0001t0003g0110 a0001c0001t0003g0114 a0001c0001t0003g0122 a0001c0001t0003g0136 a0001c0001t0004g0004 a0001c0001t0004g0020 a0001c0001t0004g0022 a0001c0001t0004g0055 a0001c0001t0004g0071 a0001c0001t0004g0118 a0001c0001t0005g0107 a0001c0001t0005g0148 a0001c0001t0006g0072 a0001c0001t0007g0108 a0001c0001t0009g0016 a0001c0001t0009g0137 a0001c0001t0017g0015 a0001c0001t0018g0050 a0001c0001t0019g0155 a0001c0002t0001g0011 a0001c0002t0001g0112 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0003g0052 a0001c0002t0004g0113 a0001c0002t0007g0057 a0001c0002t0008g0005 a0001c0003t0001g0058 a0001c0003t0001g0150 a0001c0003t0003g0043 a0001c0003t0005g0051 a0001c0004t0003g0152 a0001c0004t0010g0156 a0001c0004t0010g0157 a0003c0005t0015g0026	70	158	0.4430	-348	c.67+ others(17): Show c.67+64787_68-64962del	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar

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Search Results (Total: 10000 hits)