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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Select column to sort.

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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
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCTCT others(1200): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCTTC CCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTC CCCTCCCCTCCTCTCCCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTC CCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTC CCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTC CCCTCCCCTCCTCTCATCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCT CCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCT CCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCT CCCCTCCCCTCTCCTCCCCTCCCCTCTCTCCTCCGCTCCGCTCCCCTCTC CTCCACTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCCCCTCCC TTCCCCTCTCCTCCCCTCCCCTCCCCCTCCTCTCTCCTCCCCTCCCCTCC CCTCTCTCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTT CCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCTCT CCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCT CCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCT CCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCT CCCCTCCTCTCTCCTCCCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCTCT CCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCT CTGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCT CCCCTCTCCTCCGCTCCCCTCCCCTCTCCTCCACTCCTCTCCCCTCTCCT CCACTCCTCTCCCCTCCCCTCCTCTCTCCTCCACTCCTCTCCCCTCCTCT CCTCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCACCCCTCCCCTCCCCT CCTTTCTCCTCCCCTCCCCACGGCTCCCCTCCCCTCCTTTCTCCTCCCTT GCCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	318	0.0031	1207	c.-49 others(1218): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGAGGAGTGGAGGAGA GGGGAGGGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGA GGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGA GCGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCGGAGGAGAGGGGAGGGGAGCGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGA GGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGA GGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGA GGGGAGGGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGAGGAGGG GGAGGGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGGGGAGGAGAGG GGAAGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGCGGAGCGGAGGAGAGA GGGGAGGGGAGGAGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGA GGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGA GGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGA GGGGAGGATGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGG AGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGG AGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGG AGGGGAGGGGAGAGGAGGGGAGGGGAGGGGAGGGGAGAGGAGGGGAGGGG AGGGGAGGAGAGAGGAGGGGAGGGGAAGGGAGGAGAGAGGAGGGGAGGGG AGGGGAGGACAGAGGAGGAGAGAGGAGGGGAGGGGAGGGGGAGGGGAGGG GAGGACAGAGGAGGAGAGAGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MGMT_chr10_129462241_129775983	129518568	C C	CCCTGCCC others(1200): Show CCCTGCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTGCCCCTCCTCCCCTCCCTTCCCCCTGCCCCTCCTCCCCTCCCTTCC CGCTCCCCCTCCTCCCCTCCCTTCCCCGCTCCCCCCTCCTCCCCTCCCTT CCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTT CCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTT CCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTT CCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTT CCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCTCTCCCTTCCCCCTCCC CCTCCTCCCCTCCCTCCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCC CCTCCTCCCCTCCCTCCCCCCTCCTCTTCTTTCACCTCCCCTCCTCTTCC TTCACCTCCCCCTCCCCCCAATCACCTCCCCCTCCCCCCGCTCACCTCCC CCTCCCCCCACTCCTCCCCCTCTCACTCCTCCCCCTCCCTCCTCCCCCTG CCCTTCCCCTCCCTCCTCCCCCTCCTCCCCCTCTCCCTCTCTCTGTCTTC CCCCCTCCCCCTCCCTTTTCCCCCTCCTCCTCCCCTCCCCGTTCCCCCTC CCCCTTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCC TCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCTTCCCCCTCCCCTT TCCCCTCCCCCTTCCCCCTTCCCCTTCCCCCTCCCCCTTCCCCTTCCCCC TCCCCCTTCCCCCTCCCCCTTCCCCTTCCCCCTTCCCCTTCCCCTCCCCC TTACTCTCCCCTTCCCCTTCCCCTCCCCCTTACTCTCCCCTTCCCCTCCC CTCCCCCCTCTCCCTCACCCTCACCCTCCCCCTTCTCCTCCCCTCCCCCC TCTCCATCCCCCTCCCCCTCCCCCTTCTCCTCCCCTCCTCCTCCTTCCCG TCTCCCTCCCCATCTCCATCCCCCTCCCCCTCCTCCTCCTCCTCCTCCCC CTCCTCCT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	194	0.0052	1207	c.-12 others(1226): Show c.-12-17670_-12-17669insGCCCCTCCTCCCCTCCCTTCCCCCTC CCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTC CCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTC CCCCTCCTCCCCTCCCTTCCCCCTGCCCCTCCTCCCCTCCCTTCCCCCTG CCCCTCCTCCCCTCCCTTCCCGCTCCCCCTCCTCCCCTCCCTTCCCCGCT CCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCC TCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCC TCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCC TCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCC TCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCC TCCTCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTCCCCCCTCCCCCTCC TCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTCCCCCCTCCTCTTCT TTCACCTCCCCTCCTCTTCCTTCACCTCCCCCTCCCCCCAATCACCTCCC CCTCCCCCCGCTCACCTCCCCCTCCCCCCACTCCTCCCCCTCTCACTCCT CCCCCTCCCTCCTCCCCCTGCCCTTCCCCTCCCTCCTCCCCCTCCTCCCC CTCTCCCTCTCTCTGTCTTCCCCCCTCCCCCTCCCTTTTCCCCCTCCTCC TCCCCTCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCC TTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCCC CTCCCCTTCCCCCTCCCCTTTCCCCTCCCCCTTCCCCCTTCCCCTTCCCC CTCCCCCTTCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCTTCCC CCTTCCCCTTCCCCTCCCCCTTACTCTCCCCTTCCCCTTCCCCTCCCCCT TACTCTCCCCTTCCCCTCCCCTCCCCCCTCTCCCTCACCCTCACCCTCCC CCTTCTCCTCCCCTCCCCCCTCTCCATCCCCCTCCCCCTCCCCCTTCTCC TCCCCTCCTCCTCCTTCCCGTCTCCCTCCCCATCTCCATCCCCCTCCCCC TCCTCCTCCTCCTCCTCCCCCTCCTCCTCCT	MGMT	ENSG00000170430.10	transcript	ENST00000651593.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(1200): Show AGAAGAGAGGGGAGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAGG AGAAGGGAGGGGTGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGAGGGGAA GGGGGAGGGGAGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGG GAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGAGGGGGAGGGGAAG GGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAAGGGGG AGGGGAAGGGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGAGGAAG GGGAGGGAGGAGGGGAGGAAGGGGGAGGGGGAGGGAGGGGAGGGGGGAGG GGGGAGGGGAGGGGAGGGGGGAGGGGAGGAGGTGGGAGGGGGAGGGGAGG AGGGGGAGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGA GGAGGGGGAGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGG GAGGAGGGGAGGGGAGGAGGGGGAGGGAGGAGGGGAGGAGGGGGAGGGGA GGGGAGGGGAGGGGAGGAGGGGAGGGGAGGGGAGGAGGGGAGGAGGGGAG GGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGAGGAAGGGGGA AGGAAGAGGGGAGGGGGGGAGGAAGGGGGAGGGAGGAGGGGAGGAAGGGG GAGGGAGGAGGGGAAGAAGGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGG AGGAGGGGGGAGGGGAGGAGGGGTGAGAGGAGGAGGGAGGAGGGGAGGAG GGTGAGGGGAGGAGGGGGAGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGG GAGGAGGGAGAGGGGAGAAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGG AGGGGAGGGGAGGAGGGGAGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGG GGAGGAGGGGGAGGGGAGGAAAGGAAGGGAGGGAAGGGGAGGGGAGGAGT GGAGAGGAGGATGAGGGGAGGGGAGGGGAGGAGTGGAGAGGAGGGTAAGG GAAGGAAGCAGAGGAGGGAGGAGTGGAGAGGAGGGGAAGGGAGGGGAGGG GAGGGGTGCGGGAGGGGAGGGGTGTGGGAGGGGAGGGTAAAGGAAGGGAG GGGGAGGGTGGGGGACGGGAGGGAAGAGGAGTGGAGAGGAGGAGAAGGGA GGGGAGGG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0002 a0002c0032t0002	a0002c0032t0002g0196 a0002c0032t0002g0196	1	208	0.0048	1207	c.279 others(1222): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCGTCCCCCACCCTCCCCCTCCCTTCCTTTACCCTCCCCT CCCACACCCCTCCCCTCCCGCACCCCTCCCCTCCCCTCCCTTCCCCTCCT CTCCACTCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCT CCCCTCCCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTC CCTTCCTTTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCCTTCTCCCCTCTCCCTCCTCCCCTCCTCCTCCTCCCCTCCTC CTCCTCCCCTCCCCCTCCTCCCCTCACCCTCCTCCCCTCCTCCCTCCTCC TCTCACCCCTCCTCCCCTCCCCCCTCCTCCCCTCCCCCTCCCCCTCCCTC CCCCTCCCCCTTCTTCCCCTCCTCCCTCCCCCTTCCTCCCCTCCTCCCTC CCCCTTCCTCCCCCCCTCCCCTCTTCCTTCCCCCTTCCTCCCCTCCTCCC CTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCC TCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCTCCCCTCC TCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCCCCTCCCACCTC CTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCTCCC CCTCCCCCTTCCTCCCCTCCTCCCTCCCCTTCCTCCCCTCCTCCCCTCCC CCTCCTCCCCTCCCCCTCCCCTTCCCCTCCCCCTTCCCCTCCCCCTCCCC CTCCCCCTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTTCC CCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCC TCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCT TCCCCTCCCCTTCCCACCCCTCCCTTCTCCTTCCCCCTCCCCTTCCCTCC CTTCCCTTCTCCCCCTCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(1200): Show AGAAGAGAGGGGAGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAGG AGAAGGGAGGGGTGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGAGGGGAA GGGGGAGGGGAGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGG GAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGAGGGGGAGGGGAAG GGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAAGGGGG AGGGGAAGGGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGAGGAAG GGGAGGGAGGAGGGGAGGAAGGGGGAGGGGGAGGGAGGGGAGGGGGGAGG GGGGAGGGGAGGGGAGGGGGGAGGGGAGGAGGTGGGAGGGGGAGGGGAGG AGGGGGAGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGA GGAGGGGGAGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGG GAGGAGGGGGAGGGGAGGAGGGGGAGGGAGGAGGGGAGGAGGGGGAGGGG AGGGGAGGGGAGGGGAGGAGGGGAGGGGAGGGGAGGAGGGGAGGAGGGGA GGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGAGGAAGGGGG AAGGAAGAGGGGAGGGGGGGAGGAAGGGGGAGGGAGGAGGGGAGGAAGGG GGAGGGAGGAGGGGAAGAAGGGGGAGGGGGAGGGAGGGGGAGGGGGAGGG GAGGAGGGGGGAGGGGAGGAGGGGTGAGAGGAGGAGGGAGGAGGGGAGGA GGGTGAGGGGAGGAGGGGGAGGGGAGGAGGAGGAGGGGAGGAGGAGGAGG GGAGGAGGGAGAGGGGAGAAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAG GAGGGGAGGGGAGGAGGGGAGGAGGGGAGGAGGGGAGGGGAGGAGGGGAG GGGAGGAGGGGGAGGGGAGGAAAGGAAGGGAGGGAAGGGGAGGGGAGGAG TGGAGAGGAGGATGAGGGGAGGGGAGGGGAGGAGTGGAGAGGAGGGTAAG GGAAGGAAGCAGAGGAGGGAGGAGTGGAGAGGAGGGGAAGGGAGGGGAGG GGAGGGGTGCGGGAGGGGAGGGGTGTGGGAGGGGAGGGTAAAGGAAGGGA GGGGAGGGTGGGGGACGGGAGGGAAGAGGAGTGGAGAGGAGGAGAAGGGA GGGGAGGG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0195 a0002c0006t0002g0195	1	208	0.0048	1207	c.279 others(1222): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCGTCCCCCACCCTCCCCTCCCTTCCTTTACCCTCCCCTC CCACACCCCTCCCCTCCCGCACCCCTCCCCTCCCCTCCCTTCCCCTCCTC TCCACTCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTC CCCTCCCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCC CTTCCTTTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCC TCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCCTCCCCCTCC CCTCCCCCTTCTCCCCTCTCCCTCCTCCCCTCCTCCTCCTCCCCTCCTCC TCCTCCCCTCCCCCTCCTCCCCTCACCCTCCTCCCCTCCTCCCTCCTCCT CTCACCCCTCCTCCCCTCCCCCCTCCTCCCCTCCCCCTCCCCCTCCCTCC CCCTCCCCCTTCTTCCCCTCCTCCCTCCCCCTTCCTCCCCTCCTCCCTCC CCCTTCCTCCCCCCCTCCCCTCTTCCTTCCCCCTTCCTCCCCTCCTCCCC TCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCTCCCCTCCT CCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCCCCTCCCACCTC CTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCTCCC CCTCCCCCTTCCTCCCCTCCTCCCTCCCCTTCCTCCCCTCCTCCCCTCCC CCTCCTCCCCTCCCCCTCCCCTTCCCCTCCCCCTTCCCCTCCCCCTCCCC CTCCCCCTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTTCC CCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCC TCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCT TCCCCTCCCCTTCCCACCCCTCCCTTCTCCTTCCCCCTCCCCTTCCCTCC CTTCCCTTCTCCCCCTCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
OLFM1_chr9_135082668_135126180	135096118	C C	CTCCTTCT others(1200): Show CTCCTTCTTCCCCTCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTTCCCCT CCCTCCTCTCCTCCTCTTCCTCCTCCTCCTTCCCCTCCTTCCCTCTCCTC CTCCTCCTCTCCCTCTCCCCTCCCTCCCCTCCTCCTCTTCCCCTCCTCTT CCTCCTCTCCTTCCCCTCCTTCCCCTCCTTCCTCTCCTCCTCCTCCCCCT CTCCCCTCCCTCCTCTCCTTCTCCTTCCCCTCCCTCCTCTTCCCCTCCTC TTCCTCCTCCTCCTTCCCCTCCTTCTCCTCCTCCTCCTTCCCCCTCCCTT CCCTTCTTTCCTCCTTCTCCTTCTCCTTCCCTGCCCTCCTCTCCACCTCC CTCTCTTCTTCCTCCTTCTCCTCTCCCCCTCCATCTCCCTTCTCCCCCTC CTCCTCTCCCCCTCCCCCTCTCCTCTCCTCCTCTCCCCCTCCCCCTCTCC TCCTCCTCTCCCCCTCCCCCTCTCCTCCTCCTCCCCCTCTCCTCCTCCTC TCCCCCTCCCTCTCTCCTCCTTCTGCTCCTCCTTCTCCTCCTCCTTCCCT CCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCCCTATTTTCTCCCTTTCTC CTCCCCCTTCCTTCCTTCTCCGGCTCCTCCTCCTGTTCTTCCCCTTCCTC CTCCTCCCCCTCCCTCTCCTCCCCCTCTCCTCTTCCCCCTTGCCCCTTTG CCTCCCCTTTCCTCTCTCTCCTCTTCCTCCCTTTTCTCTTCCTCATCCCC CTCCCCCTCCTCCTTTCTCTTCCTCCCCCTTACCTTCCTCCTCCTCTCCC TTCTCTTCCTTGTCCTCCCCCTCCTCTTCCCCCTCTCCCCTCCTCCTCAT TCCTCCCCCACCTTGTCTTCTTCCCCTTTCTCCTCCTCATCGCCCCTCCT TCCTCCTCCCCCTTCCTCTTCCTCCTTCCTTCCCCCTCTCCTCTTCCTCC CCCCTCCTCCTCCCCTCTTCATCCTCCTCTTCCTCCTCCCTCTCCTCCTT CTCCTCCTCTTCCTCCTCCCCCTCTTCATCCTCCTCTTCCTCCCCCTCTT CATCCTCCTCTTCCTCCTCCCCCTCTTCATCCTCCTCTTCCTCCCCCTCT TCATCCTCCTCTTCCTCCTCCCTCTCCTTCATCCTCTTCTTCCTCCTCCC TTCTCCTCCTCTTCCTCCTCCTCCCCATCTTCATCCTCCTCTTCCTCCTC CCTCTCCT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	360	0.0028	1207	c.456 others(1222): Show c.456+101_456+102insCTTCTTCCCCTCCCTCCTCTCCTCCTCCTC TTCCTCCTCCTTCCCCTCCCTCCTCTCCTCCTCTTCCTCCTCCTCCTTCC CCTCCTTCCCTCTCCTCCTCCTCCTCTCCCTCTCCCCTCCCTCCCCTCCT CCTCTTCCCCTCCTCTTCCTCCTCTCCTTCCCCTCCTTCCCCTCCTTCCT CTCCTCCTCCTCCCCCTCTCCCCTCCCTCCTCTCCTTCTCCTTCCCCTCC CTCCTCTTCCCCTCCTCTTCCTCCTCCTCCTTCCCCTCCTTCTCCTCCTC CTCCTTCCCCCTCCCTTCCCTTCTTTCCTCCTTCTCCTTCTCCTTCCCTG CCCTCCTCTCCACCTCCCTCTCTTCTTCCTCCTTCTCCTCTCCCCCTCCA TCTCCCTTCTCCCCCTCCTCCTCTCCCCCTCCCCCTCTCCTCTCCTCCTC TCCCCCTCCCCCTCTCCTCCTCCTCTCCCCCTCCCCCTCTCCTCCTCCTC CCCCTCTCCTCCTCCTCTCCCCCTCCCTCTCTCCTCCTTCTGCTCCTCCT TCTCCTCCTCCTTCCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCCC TATTTTCTCCCTTTCTCCTCCCCCTTCCTTCCTTCTCCGGCTCCTCCTCC TGTTCTTCCCCTTCCTCCTCCTCCCCCTCCCTCTCCTCCCCCTCTCCTCT TCCCCCTTGCCCCTTTGCCTCCCCTTTCCTCTCTCTCCTCTTCCTCCCTT TTCTCTTCCTCATCCCCCTCCCCCTCCTCCTTTCTCTTCCTCCCCCTTAC CTTCCTCCTCCTCTCCCTTCTCTTCCTTGTCCTCCCCCTCCTCTTCCCCC TCTCCCCTCCTCCTCATTCCTCCCCCACCTTGTCTTCTTCCCCTTTCTCC TCCTCATCGCCCCTCCTTCCTCCTCCCCCTTCCTCTTCCTCCTTCCTTCC CCCTCTCCTCTTCCTCCCCCCTCCTCCTCCCCTCTTCATCCTCCTCTTCC TCCTCCCTCTCCTCCTTCTCCTCCTCTTCCTCCTCCCCCTCTTCATCCTC CTCTTCCTCCCCCTCTTCATCCTCCTCTTCCTCCTCCCCCTCTTCATCCT CCTCTTCCTCCCCCTCTTCATCCTCCTCTTCCTCCTCCCTCTCCTTCATC CTCTTCTTCCTCCTCCCTTCTCCTCCTCTTCCTCCTCCTCCCCATCTTCA TCCTCCTCTTCCTCCTCCCTCTCCTTC	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
OPCML_chr11_132409981_133537501	133354202	A A	ATGGTGGT others(1200): Show ATGGTGGTGGTGGTGATGACGTAATGATGCTGGTGGTGATGGTGATGGCC GGGGTGACGATGATGCTGGTGGTTGTGGTGATTGGGTGGTGATAATTGTG ATGGTGATGCCGATGCCGGTGGTGATGGCAGTGGGAGTGGTGATGGTGAT GGTAGTGTGGTGGTGGTGATGTTGATAGTGCTAGTGGTGATGATGGTGGT GATGGTGATGGTAGTGATGATAGTGATGATGCTGGTGGTGGTGATGATGG TGATGGTGATGATGCTGTTGGTGGTGGTGATGGTGGTAGTGCTAGTGATG GTGGTGACAGTGATGGTCACGGTGATGGTAGTGGGTCTAGTGGTGGTGGT AGTGATGATGGTGGTGGTGATGATGCTGGTGGTGATGGTGGTGATAATGT TGATAGTGGTGGTGGTGGTGGTGGTGATAGTGATGATGGTGCTGGTGGTG GTGACATGTTGGTGGTGGTAGTGATGATGGCAGTGGTGACGGTGATGCTG GTGGTGATGGTGGTGATAATGTTGATGGTGGTGGTGATGATGCTGGTGCT GGTGGTGATGGTGGTAATAATGGTGATAGTGGTGGTGGTAGTAGTGGTGA TAGTGATGATGATGCTGGTGGTGGTGACATGTTGGTGGTGGTAGTGATGA TGGCGGTGGTGATGGTGATGCTGGTGGTGATGGTGGTGATGATGCTGGTG CTGGTGGTGATGGTGGTGATAATGGTGATAGTGGTGGTGGTAGTGGTGGT GATAGTGATGATGGTGCTGGTGATGGTGGTGGTGGTAGTGGTAGTGATGA TGGCGGTGGTGATGGTGATGCTGGTGGTGATGGTGATAATGTTGATAGTG GTGGTGGTGGTGGTGATGATGCTGGTGCTGGTGGTGATGGTGGTGATCAT GGTGATAGTGGTGGTGGTAGTGGTGGTGATAGTGATGATGGTGGTGGTGA TGGTGGTGGTGGTAGTGGTGATGATGGTGGTGGTGATGGTGATGCTGGTG GTGATGGTGGTGGTAATGTTGATAGTGGTGGTGATGGTGATGATGCTGGT GCTGGTGGTGATGGTGGTGATGATGGTGATAGTGGGGGTGGTAGTGGTGG TGATAGTGATGATGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGATG ATGGTGGTGGTGATGGTGATGCTGGTGGTGATGGTGGTGGTAATGTTGAT AGTGGTGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG04115.hp1 HG01109.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0035 a0001c0001t0005g0020 a0001c0001t0001g0035 a0001c0001t0005g0020	2	68	0.0294	1207	c.61+ others(1226): Show c.61+178061_61+178062insCCACCACTATCAACATTACCACCACC ATCACCACCAGCATCACCATCACCACCACCATCATCACCACCACTACCAC CACCACCACCACCACCACCATCATCACTATCACCACCACTACCACCCCCA CTATCACCATCATCACCACCATCACCACCAGCACCAGCATCATCACCATC ACCACCACTATCAACATTACCACCACCATCACCACCAGCATCACCATCAC CACCACCATCATCACCACTACCACCACCACCATCACCACCACCATCATCA CTATCACCACCACTACCACCACCACTATCACCATGATCACCACCATCACC ACCAGCACCAGCATCATCACCACCACCACCACCACTATCAACATTATCAC CATCACCACCAGCATCACCATCACCACCGCCATCATCACTACCACTACCA CCACCACCATCACCAGCACCATCATCACTATCACCACCACTACCACCACC ACTATCACCATTATCACCACCATCACCACCAGCACCAGCATCATCACCAC CATCACCACCAGCATCACCATCACCACCGCCATCATCACTACCACCACCA ACATGTCACCACCACCAGCATCATCATCACTATCACCACTACTACCACCA CCACTATCACCATTATTACCACCATCACCACCAGCACCAGCATCATCACC ACCACCATCAACATTATCACCACCATCACCACCAGCATCACCGTCACCAC TGCCATCATCACTACCACCACCAACATGTCACCACCACCAGCACCATCAT CACTATCACCACCACCACCACCACCACTATCAACATTATCACCACCATCA CCACCAGCATCATCACCACCACCATCATCACTACCACCACCACTAGACCC ACTACCATCACCGTGACCATCACTGTCACCACCATCACTAGCACTACCAC CATCACCACCACCAACAGCATCATCACCATCACCATCATCACCACCACCA GCATCATCACTATCATCACTACCATCACCATCACCACCATCATCACCACT AGCACTATCAACATCACCACCACCACACTACCATCACCATCACCACTCCC ACTGCCATCACCACCGGCATCGGCATCACCATCACAATTATCACCACCCA ATCACCACAACCACCAGCATCATCGTCACCCCGGCCATCACCATCACCAC CAGCATCATTACGTCATCACCACCACCACCA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133354205	G G	GTGGTGGT others(1200): Show GTGGTGGTGGTGATGACGTAATGATGCTGGTGGTGATGGTGATGGCCGGG GTGACGATGATGCTGGTGGTTGTGGTGATTGGGTGGTGATAATTGTGATG GTGATGCCGATGCCGGTGGTGATGGCAGTGGGAGTGGTGATGGTGATGGT AGTGTGGTGGTGGTGATGTTGATAGTGCTAGTGGTGATGATGGTGGTGAT GGTGATGGTAGTGATGATAGTGATGATGCTGGTGGTGGTGATGATGGTGA TGGTGATGATGCTGTTGGTGGTGGTGATGGTGGTAGTGCTAGTGATGGTG GTGACAGTGATGGTCACGGTGATGGTAGTGGGTCTAGTGGTGGTGGTAGT GATGATGGTGGTGGTGATGATGCTGGTGGTGATGGTGGTGATAATGTTGA TAGTGGTGGTGGTGGTGGTGGTGATAGTGATGATGGTGCTGGTGGTGGTG ACATGTTGGTGGTGGTAGTGATGATGGCAGTGGTGACGGTGATGCTGGTG GTGATGGTGGTGATAATGTTGATGGTGGTGGTGATGATGCTGGTGCTGGT GGTGATGGTGGTAATAATGGTGATAGTGGTGGTGGTAGTAGTGGTGATAG TGATGATGATGCTGGTGGTGGTGACATGTTGGTGGTGGTAGTGATGATGG CGGTGGTGATGGTGATGCTGGTGGTGATGGTGGTGATGATGCTGGTGCTG GTGGTGATGGTGGTGATAATGGTGATAGTGGTGGTGGTAGTGGTGGTGAT AGTGATGATGGTGCTGGTGATGGTGGTGGTGGTAGTGGTAGTGATGATGG CGGTGGTGATGGTGATGCTGGTGGTGATGGTGATAATGTTGATAGTGGTG GTGGTGGTGGTGATGATGCTGGTGCTGGTGGTGATGGTGGTGATCATGGT GATAGTGGTGGTGGTAGTGGTGGTGATAGTGATGATGGTGGTGGTGATGG TGGTGGTGGTAGTGGTGATGATGGTGGTGGTGATGGTGATGCTGGTGGTG ATGGTGGTGGTAATGTTGATAGTGGTGGTGATGGTGATGATGCTGGTGCT GGTGGTGATGGTGGTGATGATGGTGATAGTGGGGGTGGTAGTGGTGGTGA TAGTGATGATGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGATGATG GTGGTGGTGATGGTGATGCTGGTGGTGATGGTGGTGGTAATGTTGATAGT GGTGGTGA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	68	0.0147	1207	c.61+ others(1226): Show c.61+178058_61+178059insTCACCACCACTATCAACATTACCACC ACCATCACCACCAGCATCACCATCACCACCACCATCATCACCACCACTAC CACCACCACCACCACCACCACCATCATCACTATCACCACCACTACCACCC CCACTATCACCATCATCACCACCATCACCACCAGCACCAGCATCATCACC ATCACCACCACTATCAACATTACCACCACCATCACCACCAGCATCACCAT CACCACCACCATCATCACCACTACCACCACCACCATCACCACCACCATCA TCACTATCACCACCACTACCACCACCACTATCACCATGATCACCACCATC ACCACCAGCACCAGCATCATCACCACCACCACCACCACTATCAACATTAT CACCATCACCACCAGCATCACCATCACCACCGCCATCATCACTACCACTA CCACCACCACCATCACCAGCACCATCATCACTATCACCACCACTACCACC ACCACTATCACCATTATCACCACCATCACCACCAGCACCAGCATCATCAC CACCATCACCACCAGCATCACCATCACCACCGCCATCATCACTACCACCA CCAACATGTCACCACCACCAGCATCATCATCACTATCACCACTACTACCA CCACCACTATCACCATTATTACCACCATCACCACCAGCACCAGCATCATC ACCACCACCATCAACATTATCACCACCATCACCACCAGCATCACCGTCAC CACTGCCATCATCACTACCACCACCAACATGTCACCACCACCAGCACCAT CATCACTATCACCACCACCACCACCACCACTATCAACATTATCACCACCA TCACCACCAGCATCATCACCACCACCATCATCACTACCACCACCACTAGA CCCACTACCATCACCGTGACCATCACTGTCACCACCATCACTAGCACTAC CACCATCACCACCACCAACAGCATCATCACCATCACCATCATCACCACCA CCAGCATCATCACTATCATCACTACCATCACCATCACCACCATCATCACC ACTAGCACTATCAACATCACCACCACCACACTACCATCACCATCACCACT CCCACTGCCATCACCACCGGCATCGGCATCACCATCACAATTATCACCAC CCAATCACCACAACCACCAGCATCATCGTCACCCCGGCCATCACCATCAC CACCAGCATCATTACGTCATCACCACCACCA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OSTF1_chr9_75083514_75152265	75139041	T T	TTCTTTTC others(1200): Show TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0298 a0001c0001t0005g0298	1	366	0.0027	1207	c.487 others(1224): Show c.487+1425_487+1426insTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTC	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9			chr9	TogoVar
PKHD1_chr6_51610299_52092613	51982182	A A	AGGTGGGG others(1200): Show AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGT GAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAG CCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCC GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGG GAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCCCC CCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGCC CGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCC GGGAGGAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02809.hp2 HG02897.hp2 others(5): Show HG02451.hp1 HG02809.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03225.hp1 HG03225.hp2 NA19240.hp1	a0001 a0006 a0024 others(1): Show a0001 a0006 a0024 a0027	a0001c0001 a0001c0010 a0006c0011 others(2): Show a0001c0001 a0001c0010 a0006c0011 a0024c0068 a0027c0069	a0001c0001t0001 a0001c0010t0001 a0006c0011t0005 others(2): Show a0001c0001t0001 a0001c0010t0001 a0006c0011t0005 a0024c0068t0001 a0027c0069t0018	a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0010t0001g0077 others(5): Show a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0010t0001g0077 a0001c0010t0001g0078 a0006c0011t0005g0063 a0006c0011t0005g0134 a0024c0068t0001g0091 a0027c0069t0018g0092	8	134	0.0597	1207	c.575 others(1228): Show c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC ACCTCCCTCCCAGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTG GCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCT GGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGATGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51982182	A A	AGGTGGGG others(1200): Show AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGT GAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAG CCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCC GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCCCC CCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGCC CGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCC GGGAGGAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0042 a0042	a0042c0035 a0042c0035	a0042c0035t0006 a0042c0035t0006	a0042c0035t0006g0059 a0042c0035t0006g0059	1	134	0.0075	1207	c.575 others(1228): Show c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC ACCTCCCTCCCAGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCT GGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGATGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PPP6R2_chr22_50338327_50450090	50397569	C C	CTGTCATC others(1200): Show CTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGC AGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCAT CTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCC TGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGT TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCA CCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCT GAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTT GTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGG GGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTG AGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCC TCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGA TGGGGGCAGGGGGCCTGTCCTCACCAGCCCTGTCATCCCTCTGAGTTTTT CTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAG CCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGC GGGGGGCCTGTCCTCACCAGCCCTGTCATCCCTCTGAGCTTTTCTCTGAG GAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCA TCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCC TGTCCTCACCAGCCCTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGA CTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAG TTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTC ACCAGCCT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0146 a0001c0003t0002g0146	1	340	0.0029	1207	c.227 others(1224): Show c.227+3441_227+3442insCCTCTGAGCTTTTCTCTGAGGAGTGTGA CTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGA GTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTC ACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATG GGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTC TGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCC TGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGG GGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGT GTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCT CTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTG TCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTG GGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTT TCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAG CCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGC GGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCCTGTCAT CCCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGG CCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGA CTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCCTGTCATCCCTCTG AGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCT CACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGAT GGGGGCGGGGGGCCTGTCCTCACCAGCCCTGTCATCCCTCTGAGCTTTTC TCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCC TTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGG GGGGGCCTGTCCTCACCAGCCTTGTCATC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
RASGEF1C_chr5_180095795_180214211	180134844	C C	CCATCCAC others(1200): Show CCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCC ACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCAC CCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCC ATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCAC CTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTTCC CTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTTCCCTCCAT CTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTC ACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTATTCACCCAT CCACCCACCCACCCATCCACCTTTCCCTCCATCTACTCACCCATCCACCC ACCCACCCATCCACCTTTCCCTCCATCTACTCACCCATCCACCCACCCAC CCATCCACCTTTCCCTCCATCTACTCACCCATCCACCCACCCACCCATCC ACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTC CCCTCCATCTATTCACCCATCCACCCACCCACCCATCCACCTTTCCCTCC ATCTACTCACCCATCCACCCACCCACCCATCCACCTTTCCCTCCATCTAC TCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCC ATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCAC CCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCC ACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCAT CCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCT TCCCCTCCATTTATTCAACCTCCCACCCACCAACCCATCCACCTTCCCCT CTATCTATTCAACTATTCAACCACCCACCCACCCACCCACCATCCATCCA CCTTCCGCTCCACCTATTCACCCATCCACCCACCCACCCATCTACCTTTC TCTCCACCTATTCACCCATCCACCCACCCACCCATCTACCTTCCTCTCCA TCTATTCAACTATCCACCCACCCACCCACCTATCCACTTTCCCCTCCATC TATTCAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0121 a0001c0002t0002g0121	1	370	0.0027	1207	c.438 others(1224): Show c.438+1533_438+1534insTTTGAATAGATGGAGGGGAAAGTGGATA GGTGGGTGGGTGGGTGGATAGTTGAATAGATGGAGAGGAAGGTAGATGGG TGGGTGGGTGGATGGGTGAATAGGTGGAGAGAAAGGTAGATGGGTGGGTG GGTGGATGGGTGAATAGGTGGAGCGGAAGGTGGATGGATGGTGGGTGGGT GGGTGGGTGGTTGAATAGTTGAATAGATAGAGGGGAAGGTGGATGGGTTG GTGGGTGGGAGGTTGAATAAATGGAGGGGAAGGTGGATGGGTGGGTGGGT GGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGG GTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGT AGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGG AGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGA AGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGAAAGGTGG ATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGAAAGGTGGATGGGT GGGTGGGTGGATGGGTGAATAGATGGAGGGGAAGGTGGATGGGTGGGTGG GTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGAT GGGTGAGTAGATGGAGGGAAAGGTGGATGGGTGGGTGGGTGGATGGGTGA GTAGATGGAGGGAAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGAT GGAGGGAAAGGTGGATGGGTGGGTGGGTGGATGGGTGAATAGATGGAGGG GAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGT GGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGAAAGGTGGATGG GTGGGTGGGTGGATGGGTGAGTAGATGGAGGGAAAGGTGGATGGGTGGGT GGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGG ATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGT GAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAG ATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAG GGGAAGGTGGATGGGTGGGTGGGTGGATG	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	4/13			chr5	TogoVar
RIMBP2_chr12_130391133_130721299	130392556	T T	TGGATGCA others(1200): Show TGGATGCATCAGTTACCTGGTGAATATTGAATGTTGTGATGACCCGGTGA CCGTCATCACGTGTGTGTGTCAGTTACCTGGTGAATATTGAATGTTGTGA GGACCCAGTCACCGTCATCACGTGTCCGTCAGTTACCTGGTGAATATTGA ATGTTGTGAGGACCCAGTCACCGTCATCACGTGTCCGTCAGTTACCTGGT GAATATTGAATGTTGTGAGGACCCGGTCACCGTCATCACGTGTCCGTCAG TTACCTGGTGAATATTGAATGTTGTGATGACCTGGTCACCGTCATCATGT GGATGCATCAGTTACCTGGTGAATATTGAATGTTGTGATGACCCGGTGAC TGTCATCACGTGTGTCTGTCAGTTACCTGGTGAATATTGAATGTTGTGAT GACCCAGTCACCGTCATCACGTGTCCGTCAGTTACCTGGTGAATATTGAA TGTTGTGATGACCCAGTCACCGTCATCATGTGTGTGCATCAGTTACCTGG TGAATATTGAATGTTGTGATGACCCGGTCACTGTCATCACATGTGTGCGT CAGTTACCTGGTGAATACTGAATGTTGTGATGACCCAGTCTCCATCATCA CGTGTTTGTGTCAGTTACCTGGTGAATATTCGGTGTGATGACCCAGTCAC CGTCATCACATGTGTCCGTCAGTTACCTGGTGAATATTGAGTGTTGTGAT GACCCAGTCACTGTCATCACGTGTGTCCGTCAGTTACCTGGTGAATATTG AATGTTGTGATGACCCAGTCACCGTCATCACGTGGGTGCATCAGTCACCT GGTGAATATTGAATGTTGTGATGACTCAGTCACCGTCATCACGTGTGTGC GTCAGTTACCTGGTGAATATTGAATGTTGTGATGACCCAGTCACCGTCAT CACGTGTGTCCGTCAGTTACCTGGTGAATATTGAATGTTGTGATGACCCA ATCACCATCATCACATGTGTCCGTCAGTTACCTGTTGAATATTGAATGTT GTGATGACCCAGTCACCATCATCACGTGTGTCCGTCAGTTACCTGTTGAA TATTGAATGTTGTGATGACCCAGTCACCATCATCACGTGTGTCCGTCAGT TACCTGTTGAATATTGAATATTGTGATGACCCGGTCACCATCATCACGTG TGTCCGTCAGTTACCTGGTGAATATTGAATGTTGTGATGACCCGGTCACC GTCATCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG03098.hp2 HG03130.hp1 HG02630.hp2 HG03098.hp2 HG03130.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0003 a0002c0009 a0012c0035 a0001c0003 a0002c0009 a0012c0035	a0001c0003t0001 a0002c0009t0001 a0012c0035t0001 a0001c0003t0001 a0002c0009t0001 a0012c0035t0001	a0001c0003t0001g0130 a0002c0009t0001g0128 a0012c0035t0001g0102 a0001c0003t0001g0130 a0002c0009t0001g0128 a0012c0035t0001g0102	3	180	0.0167	1207	c.48 others(1218): Show c.4804_*4805insGTGATGACGGTGACCGGGTCATCACAACATTCAA TATTCACCAGGTAACTGACGGACACACGTGATGATGGTGACCGGGTCATC ACAATATTCAATATTCAACAGGTAACTGACGGACACACGTGATGATGGTG ACTGGGTCATCACAACATTCAATATTCAACAGGTAACTGACGGACACACG TGATGATGGTGACTGGGTCATCACAACATTCAATATTCAACAGGTAACTG ACGGACACATGTGATGATGGTGATTGGGTCATCACAACATTCAATATTCA CCAGGTAACTGACGGACACACGTGATGACGGTGACTGGGTCATCACAACA TTCAATATTCACCAGGTAACTGACGCACACACGTGATGACGGTGACTGAG TCATCACAACATTCAATATTCACCAGGTGACTGATGCACCCACGTGATGA CGGTGACTGGGTCATCACAACATTCAATATTCACCAGGTAACTGACGGAC ACACGTGATGACAGTGACTGGGTCATCACAACACTCAATATTCACCAGGT AACTGACGGACACATGTGATGACGGTGACTGGGTCATCACACCGAATATT CACCAGGTAACTGACACAAACACGTGATGATGGAGACTGGGTCATCACAA CATTCAGTATTCACCAGGTAACTGACGCACACATGTGATGACAGTGACCG GGTCATCACAACATTCAATATTCACCAGGTAACTGATGCACACACATGAT GACGGTGACTGGGTCATCACAACATTCAATATTCACCAGGTAACTGACGG ACACGTGATGACGGTGACTGGGTCATCACAACATTCAATATTCACCAGGT AACTGACAGACACACGTGATGACAGTCACCGGGTCATCACAACATTCAAT ATTCACCAGGTAACTGATGCATCCACATGATGACGGTGACCAGGTCATCA CAACATTCAATATTCACCAGGTAACTGACGGACACGTGATGACGGTGACC GGGTCCTCACAACATTCAATATTCACCAGGTAACTGACGGACACGTGATG ACGGTGACTGGGTCCTCACAACATTCAATATTCACCAGGTAACTGACGGA CACGTGATGACGGTGACTGGGTCCTCACAACATTCAATATTCACCAGGTA ACTGACACACACACGTGATGACGGTCACCGGGTCATCACAACATTCAATA TTCACCAGGTAACTGATGCATCC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding		3576		chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130392556	T T	TGGATGCA others(1200): Show TGGATGCATCAGTTACCTGGTGAATATTGAATGTTGTGATGACCCGGTGA CCGTCATCACGTGTGTGTGTCAGTTACCTGGTGAATATTGAATGTTGTGA GGACCCAGTCACCGTCATCACGTGTCCGTCAGTTACCTGGTGAATATTGA ATGTTGTGAGGACCCAGTCACCGTCATCACGTGTCCGTCAGTTACCTGGT GAATATTGAATGTTGTGAGGACCCGGTCACCGTCATCACGTGTCCGTCAG TTACCTGGTGAATATTGAATGTTGTGATGACCTGGTCACCGTCATCATGT GGATGCATCAGTTACCTGGTGAATATTGAATGTTGTGATGACCCGGTGAC TGTCATCACGTGTGTCTGTCAGTTACCTGGTGAATATTGAATGTTGTGAT GACCCAGTCACCGTCATCACGTGTCCGTCAGTTACCTGGTGAATATTGAA TGTTGTGATGACCCAGTCACCGTCATCATGTGTGTGCATCAGTTACCTGG TGAATATTGAATGTTGTGATGACCCGGTCACTGTCATCACATGTGTGCGT CAGTTACCTGGTGAATACTGAATGTTGTGATGACCCAGTCTCCATCATCA CGTGTTTGTGTCAGTTACCTGGTGAATATTCGGTGTGATGACCCAGTCAC CGTCATCACATGTGTCCGTCAGTTACCTGGTGAATATTGAGTGTTGTGAT GACCCAGTCACTGTCATCACGTGTGTCCGTCAGTTACCTGGTGAATATTG AATGTTGTGATGACCCAGTCACCGTCATCACGTGGGTGCATCAGTCACCT GGTGAATATTGAATGTTGTGATGACTCAGTCACTGTCATCACGTGTGTGC GTCAGTTACCTGGTGAATATTGAATGTTGTGATGACCCAGTCACCGTCAT CACGTGTGTCCGTCAGTTACCTGGTGAATATTGAATGTTGTGATGACCCA ATCACCATCATCACATGTGTCCGTCAGTTACCTGTTGAATATTGAATGTT GTGATGACCCAGTCACCATCATCACGTGTGTCCGTCAGTTACCTGTTGAA TATTGAATGTTGTGATGACCCAGTCACCATCATCACGTGTGTCCGTCAGT TACCTGTTGAATATTGAATATTGTGATGACCCGGTCACCATCATCACGTG TGTCCGTCAGTTACCTGGTGAATATTGAATGTTGTGATGACCCGGTCACC GTCATCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0168 a0001c0002t0001g0168	1	180	0.0056	1207	c.48 others(1218): Show c.4804_*4805insGTGATGACGGTGACCGGGTCATCACAACATTCAA TATTCACCAGGTAACTGACGGACACACGTGATGATGGTGACCGGGTCATC ACAATATTCAATATTCAACAGGTAACTGACGGACACACGTGATGATGGTG ACTGGGTCATCACAACATTCAATATTCAACAGGTAACTGACGGACACACG TGATGATGGTGACTGGGTCATCACAACATTCAATATTCAACAGGTAACTG ACGGACACATGTGATGATGGTGATTGGGTCATCACAACATTCAATATTCA CCAGGTAACTGACGGACACACGTGATGACGGTGACTGGGTCATCACAACA TTCAATATTCACCAGGTAACTGACGCACACACGTGATGACAGTGACTGAG TCATCACAACATTCAATATTCACCAGGTGACTGATGCACCCACGTGATGA CGGTGACTGGGTCATCACAACATTCAATATTCACCAGGTAACTGACGGAC ACACGTGATGACAGTGACTGGGTCATCACAACACTCAATATTCACCAGGT AACTGACGGACACATGTGATGACGGTGACTGGGTCATCACACCGAATATT CACCAGGTAACTGACACAAACACGTGATGATGGAGACTGGGTCATCACAA CATTCAGTATTCACCAGGTAACTGACGCACACATGTGATGACAGTGACCG GGTCATCACAACATTCAATATTCACCAGGTAACTGATGCACACACATGAT GACGGTGACTGGGTCATCACAACATTCAATATTCACCAGGTAACTGACGG ACACGTGATGACGGTGACTGGGTCATCACAACATTCAATATTCACCAGGT AACTGACAGACACACGTGATGACAGTCACCGGGTCATCACAACATTCAAT ATTCACCAGGTAACTGATGCATCCACATGATGACGGTGACCAGGTCATCA CAACATTCAATATTCACCAGGTAACTGACGGACACGTGATGACGGTGACC GGGTCCTCACAACATTCAATATTCACCAGGTAACTGACGGACACGTGATG ACGGTGACTGGGTCCTCACAACATTCAATATTCACCAGGTAACTGACGGA CACGTGATGACGGTGACTGGGTCCTCACAACATTCAATATTCACCAGGTA ACTGACACACACACGTGATGACGGTCACCGGGTCATCACAACATTCAATA TTCACCAGGTAACTGATGCATCC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding		3576		chr12	TogoVar
SDK2_chr17_73329384_73649445	73405200	G G	GGGGAGGC others(1200): Show GGGGAGGCCAAGGCGGGTGGATTACCTGAGGTCAGGAGTTTGAGACCAGC CTGGCCAACATGGTGAAACCCTGTCTCTGCTAATAATACAAAAATTAGCC AGGGGTGGTGGCGCATGCCTGTAATCCCAGCTACTTGCGAGGTGAAGCAG GAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGCG CCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGCCTCAAAAAAAA AAAAGAAAAAAAAAGAAAAAGTCGGAGAAATCCTGTCTCTCTGTCTCTCT CCCTCTATCTCTTTGCACACGCACAGACTCCCAAAAAACAACTTGGAAGG AGATGTGAGAAACCAACAACGGTGGCCACCTGGAGTGAGGAGAGTTTTGG AGTTGGGCACAGCACAACCAGGCAGGTGGGAGACTAGGGTGGGATGGAGG CCTTCCACTATATGTTTACTATTTTTTACTTTATTTTGGTTTTTTGAATC ACATATTTTAGGTTTAAAAATTAAAAGATCAAGAAATAAATTGAATGAGG GGTATTTGGCAATTGTAGCAAAAGTATTTACACATTTTCCCTTTGACTCA ACAATCTCATTTCTAGGAATCTAGTCCAAAGTTATACTGTGAAAACAAAA AAAGAGGTCGAGTGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAG GCCAGGGTGGGTGGTCACCTGAGGTTAGGAGTTCGAGGACAGCCTAGCCA ACATGATGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGT GGTGGCGGGTGCCTATAATCCTAGCTACCTGGGAGGCTGAGGCAGGAGAA TTGCTTGAACCTGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCTGCTG TACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAGAAAAAAAAAAA AAAAAAAGATATATGCACAAAACCATTCACCACAGAAAGGGTAGTTATAG TAAGACTAGAAACAACCAAAATGTCATCACCTGGGGGCTGCTTGATTAAA CTATGGGAGATCCATATGATAGCAGAGGATACAGGTGTCAAAAGGAACAA GGGATGTCTCTCTATACTTTTATGGACTGACCTCCAAAATACATTCTAAA TAGTGATAATAATATAGGGACCGGGCACAGTGGCTCACGCCTGTAATCCC AGCACTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03516.hp1 HG03486.hp2 HG03516.hp1	a0001 a0001	a0001c0008 a0001c0018 a0001c0008 a0001c0018	a0001c0008t0004 a0001c0018t0008 a0001c0008t0004 a0001c0018t0008	a0001c0008t0004g0051 a0001c0018t0008g0156 a0001c0008t0004g0051 a0001c0018t0008g0156	2	204	0.0098	1207	c.248 others(1226): Show c.2485-3060_2485-3059insAAAGTGCTGGGATTACAGGCGTGAGC CACTGTGCCCGGTCCCTATATTATTATCACTATTTAGAATGTATTTTGGA GGTCAGTCCATAAAAGTATAGAGAGACATCCCTTGTTCCTTTTGACACCT GTATCCTCTGCTATCATATGGATCTCCCATAGTTTAATCAAGCAGCCCCC AGGTGATGACATTTTGGTTGTTTCTAGTCTTACTATAACTACCCTTTCTG TGGTGAATGGTTTTGTGCATATATCTTTTTTTTTTTTTTTTTTCTGAGAT GGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTACAGCAGCATGATCTCGGC TCACTGCAACCTCCACCTCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTC CCAGGTAGCTAGGATTATAGGCACCCGCCACCACGCCTGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCATCATGTTGGCTAGGCTGTCCTCGA ACTCCTAACCTCAGGTGACCACCCACCCTGGCCTCCCAAAGTGCTGGGAT TATAGGCATGAGCCACCGCACTCGACCTCTTTTTTTGTTTTCACAGTATA ACTTTGGACTAGATTCCTAGAAATGAGATTGTTGAGTCAAAGGGAAAATG TGTAAATACTTTTGCTACAATTGCCAAATACCCCTCATTCAATTTATTTC TTGATCTTTTAATTTTTAAACCTAAAATATGTGATTCAAAAAACCAAAAT AAAGTAAAAAATAGTAAACATATAGTGGAAGGCCTCCATCCCACCCTAGT CTCCCACCTGCCTGGTTGTGCTGTGCCCAACTCCAAAACTCTCCTCACTC CAGGTGGCCACCGTTGTTGGTTTCTCACATCTCCTTCCAAGTTGTTTTTT GGGAGTCTGTGCGTGTGCAAAGAGATAGAGGGAGAGAGACAGAGAGACAG GATTTCTCCGACTTTTTCTTTTTTTTTCTTTTTTTTTTTTGAGGCAGAGT CTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTG CAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCTTCACCTCGCAAGT AGCTGGGATTACAGGCATGCGCCACCACCCCTGGCTAATTTTTGTATTAT TAGCAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTG ACCTCAGGTAATCCACCCGCCTTGGCCTCCC	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	18/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73405200	G G	GGGGAGGC others(1200): Show GGGGAGGCCAAGGCGGGTGGATTACCTGAGGTCAGGAGTTTGAGACCAGC CTGGCCAACATGGTGAAACCCTGTCTCTGCTAATAATACAAAAATTAGCC AGGGGTGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGTGAAGCAG GAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGCG CCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGCCTCAAAAAAAA AAAAAAGAAAAAAAAAGAAAAAGTCGGAGAAATCCTGTCTCTCTGTCTCT CTCCCTCTATCTCTTTGCACACGCACAGACTCCCAAAAAACAACTTGGAA GGAGATGTGAGAAACCAACAACGGTGGCCACCTGGAGTGAGGAGAGTTTT GGAGTTGGGCACAGCACAACCAGGCAGGTGGGAGACTAGGGTGGGATGGA GGCCTTCCACTATATGTTTGCTATTTTTTACTTTATTTTGGTTTTTTGAA TCACATATTTTAGGTTTAAAAATTAAAAGATCAAGAAATAAATTGAATGA GGGGTATTTGGCAATTGTAGCAAAAGTATTTACACATTTTCCCTTTGACT CAACAATCTCATTTCCAGGAATCTAGTCCAAAGTTATACTGTGAAAACAA AAAAAGAGGTCGAGTGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGG AGGCCAGGGTGGGTGGTCACCTGAGGTTAGGAGTTCGAGGACAGCCTAGC CAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGC GTGGTGGCGGGTGCCTATAATCCTAGCTACCTGGGAGGCTGAGGCAGGAG AATTGCTTGAACCTGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCTGC TGTACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAGAAAAAAAAA AAAAAAAGATATATGCACAAAACCATTCACCACAGAAAGGGTAGTTATAG TAAGACTAGAAACAACCAAAATGTCATCACCTGGGGGCTGCTTGATTAAA CTATGGGAGATCCATATGATAGCAGAGGATACAGGTGTCAAAAGGAACAA GGGATGTCTCTCTATACTTTTATGGACTGACCTCCAAAATACATTCTAAA TAATGATAATAATATAGGGACCGGGCACAGTGGCTCACGCCTGTAATCCC AGCACTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03098.hp2 HG02818.hp2 HG03098.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0016 a0001c0025t0016	a0001c0025t0016g0055 a0001c0025t0016g0180 a0001c0025t0016g0055 a0001c0025t0016g0180	2	204	0.0098	1207	c.248 others(1226): Show c.2485-3060_2485-3059insAAAGTGCTGGGATTACAGGCGTGAGC CACTGTGCCCGGTCCCTATATTATTATCATTATTTAGAATGTATTTTGGA GGTCAGTCCATAAAAGTATAGAGAGACATCCCTTGTTCCTTTTGACACCT GTATCCTCTGCTATCATATGGATCTCCCATAGTTTAATCAAGCAGCCCCC AGGTGATGACATTTTGGTTGTTTCTAGTCTTACTATAACTACCCTTTCTG TGGTGAATGGTTTTGTGCATATATCTTTTTTTTTTTTTTTTCTGAGATGG AGTTTCGCTCTTGTTGCCCAGGCTGGAGTACAGCAGCGTGATCTCGGCTC ACTGCAACCTCCACCTCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCC AGGTAGCTAGGATTATAGGCACCCGCCACCACGCCTGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCATCATGTTGGCTAGGCTGTCCTCGAAC TCCTAACCTCAGGTGACCACCCACCCTGGCCTCCCAAAGTGCTGGGATTA TAGGCATGAGCCACCGCACTCGACCTCTTTTTTTGTTTTCACAGTATAAC TTTGGACTAGATTCCTGGAAATGAGATTGTTGAGTCAAAGGGAAAATGTG TAAATACTTTTGCTACAATTGCCAAATACCCCTCATTCAATTTATTTCTT GATCTTTTAATTTTTAAACCTAAAATATGTGATTCAAAAAACCAAAATAA AGTAAAAAATAGCAAACATATAGTGGAAGGCCTCCATCCCACCCTAGTCT CCCACCTGCCTGGTTGTGCTGTGCCCAACTCCAAAACTCTCCTCACTCCA GGTGGCCACCGTTGTTGGTTTCTCACATCTCCTTCCAAGTTGTTTTTTGG GAGTCTGTGCGTGTGCAAAGAGATAGAGGGAGAGAGACAGAGAGACAGGA TTTCTCCGACTTTTTCTTTTTTTTTCTTTTTTTTTTTTTTGAGGCAGAGT CTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTG CAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCTTCACCTCCCAAGT AGCTGGGATTACAGGCATGCGCCACCACCCCTGGCTAATTTTTGTATTAT TAGCAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTG ACCTCAGGTAATCCACCCGCCTTGGCCTCCC	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	18/44			chr17	TogoVar
TCERG1L_chr10_131087391_131316721	131176845	C C	CACACAAA others(1200): Show CACACAAAGAGACACGTGCACACACACCAAAACACATGCACACACAGAGA GACACAGGCACACACACCAAGACATGTGTACACAGACACATGCACACAGA GACACGTGCACACACAGACATGTGTACACACACAGTGTACACACACAGAG ATAGGAACACACAGAGACACGTGCACACACACCAAAACACATGCACACAC AGACACATTCACACACACCAAGATACATGCACACAGACACATGAACACAC ACCAAGACACGTGTACACATAGACACATGCACACACAGATACGTGTATAC ACAGACACATGCACACACACAGACATGTATACATACACAGAGACACATAC ACACACAGACGCATGTACTCACAGAGACACATGCACACACAGACACGTGT ACAGAGATATGCACACACACAGACACGTGTACACACACCAAGAAACATGC ACACACAGAGACACATGCACACACAAACATGTGTACACCCACAGAGATAG GCACAAAGAGGCACGTGCACACACACCAAAACACATGCACACACACAGAG ACACATGCACACACCATGACATGTGTACATACACCAAGACACATGTACAC ACAGAGATACGTGTACACACACCAAGAAACATGCACACACAGACACGTGT ACACCCACAGAGATAGGCACATACAAAGAGGCACGTGCACACACACCAAA ACACATGCACACACACAGAGACACGTGCACACACACCACGACATGTGCAC ATACACCAAGACACATGTACACACAGAGATACGTGTACACACACCAAGAA ACATGCACACACAGACACGTGTACACACACCAAGAAACATGCACACACAG AGACACATGCACACACAAACACGTGTACACCCACAGAGATAGGCACATAC AAAGAGGCACGTGCACACACACCAAAACACATGCACACACACAGACACGT GCACACACACCAAGACGTGCACATACACCAAGACACATGTATACACAGAG ATACACGTACACACACAGAGACACATGCACACACAGACATGTGTACACAC AGAGAGATAGGCACACACAAAGAGACACGTGCACACACACCAAAACACAT GCACACACAGAGAGACACAGGCACACACACCGTGTACACAGACACATGCA CACAGAGACACGTGCACACACAGACATGTGTACACACACAGAGTGTACAC ACACAGAG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0316 a0001c0001t0005g0316	1	324	0.0031	1207	c.857 others(1224): Show c.857-9961_857-9960insCTCTGTGTGTGTACACTCTGTGTGTGTA CACATGTCTGTGTGTGCACGTGTCTCTGTGTGCATGTGTCTGTGTACACG GTGTGTGTGCCTGTGTCTCTCTGTGTGTGCATGTGTTTTGGTGTGTGTGC ACGTGTCTCTTTGTGTGTGCCTATCTCTCTGTGTGTACACATGTCTGTGT GTGCATGTGTCTCTGTGTGTGTACGTGTATCTCTGTGTATACATGTGTCT TGGTGTATGTGCACGTCTTGGTGTGTGTGCACGTGTCTGTGTGTGTGCAT GTGTTTTGGTGTGTGTGCACGTGCCTCTTTGTATGTGCCTATCTCTGTGG GTGTACACGTGTTTGTGTGTGCATGTGTCTCTGTGTGTGCATGTTTCTTG GTGTGTGTACACGTGTCTGTGTGTGCATGTTTCTTGGTGTGTGTACACGT ATCTCTGTGTGTACATGTGTCTTGGTGTATGTGCACATGTCGTGGTGTGT GTGCACGTGTCTCTGTGTGTGTGCATGTGTTTTGGTGTGTGTGCACGTGC CTCTTTGTATGTGCCTATCTCTGTGGGTGTACACGTGTCTGTGTGTGCAT GTTTCTTGGTGTGTGTACACGTATCTCTGTGTGTACATGTGTCTTGGTGT ATGTACACATGTCATGGTGTGTGCATGTGTCTCTGTGTGTGTGCATGTGT TTTGGTGTGTGTGCACGTGCCTCTTTGTGCCTATCTCTGTGGGTGTACAC ATGTTTGTGTGTGCATGTGTCTCTGTGTGTGCATGTTTCTTGGTGTGTGT ACACGTGTCTGTGTGTGTGCATATCTCTGTACACGTGTCTGTGTGTGCAT GTGTCTCTGTGAGTACATGCGTCTGTGTGTGTATGTGTCTCTGTGTATGT ATACATGTCTGTGTGTGTGCATGTGTCTGTGTATACACGTATCTGTGTGT GCATGTGTCTATGTGTACACGTGTCTTGGTGTGTGTTCATGTGTCTGTGT GCATGTATCTTGGTGTGTGTGAATGTGTCTGTGTGTGCATGTGTTTTGGT GTGTGTGCACGTGTCTCTGTGTGTTCCTATCTCTGTGTGTGTACACTGTG TGTGTACACATGTCTGTGTGTGCACGTGTCTCTGTGTGCATGTGTCTGTG TACACATGTCTTGGTGTGTGTGCCTGTGTCTCTCTGTGTGTGCATGTGTT TTGGTGTGTGTGCACGTGTCTCTTTGTGT	TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	4/11			chr10	TogoVar
TECTA_chr11_121096243_121196490	121185949	T T	TTAATGAA others(1200): Show TTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTC AATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATG AGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGA TGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAAT GAATGAGTAGGGAAAGCAGATGTTCAGTGCTTAATGAATGAGTAGGGAAA GCAGATGTTCAGTGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAGTGC TTAATGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTG AATGCTTAATGAGTAGGGAAAGCAGATGTTCAGTGCTTAATGAATGAGTA GGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTT GAATGCTTAATGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATGAAT GAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAG ATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAA TGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCA GATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAGTGCTTA ATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGA AAGAAGATGTTCAATGCTTAATGAGTAGGGAAAGCAGATGTTCAATGCTT AATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGG AAAGCAGATGTTGAATGCTTAATGAGTAGGGAAAGCAGATGTTCAATGCT TAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGG GAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGAAGATGTTCA ATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGA GTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGAT GTTCAATG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp1 HG02647.hp2 HG01109.hp2 HG02258.hp1 HG02647.hp2	a0003 a0019 a0003 a0019	a0003c0007 a0019c0052 a0003c0007 a0019c0052	a0003c0007t0002 a0019c0052t0002 a0003c0007t0002 a0019c0052t0002	a0003c0007t0002g0033 a0003c0007t0002g0124 a0019c0052t0002g0034 a0003c0007t0002g0033 a0003c0007t0002g0124 a0019c0052t0002g0034	3	348	0.0086	1207	c.600 others(1226): Show c.6000-1883_6000-1882insTAATGAATGAGTAGGGAAAGCAGATG TTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGA ATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGC AGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTT AATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGG AAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAG TGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAGTGCTTAATGAATGAG TAGGGAAAGCAGATGTTCAGTGCTTAATGAATGAGTAGGGAAAGAAGATG TTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGA ATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAGTAGGGAAAGCAGAT GTTCAGTGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATG AATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAG AAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCT TAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGG GAAAGCAGATGTTCAATGCTTAATGAGTAGGGAAAGCAGATGTTGAATGC TTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTCAGTGCTTAATGAATGAGTAGGGAAAGCAGATGTTC AATGCTTAATGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATGAGTA GGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTT CAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAGT AGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGT TCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAA TGAGTAGGGAAAGAAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCA GATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTA ATGAATGAGTAGGGAAAGCAGATGTTCAATG	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23			chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930831	C C	CAGGGGTT others(1200): Show CAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGG GTTAGGGAGACCAAGGGTCAGGGAAGCCAGGGATTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGA GACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGC CGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCGGGGTTAGGGAGGCTGGGG TTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAG GGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGG CCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGG GGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTT AGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGG GAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGG CCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAG GGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGAAGGCCGGGGTT AGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGG GAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAGG CCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGG GGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTT AGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGG AGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTATGGAGGCA GGGATTATGGAGGCAGGGATTAGGGAGGCAGGGATTAGGGAGGCCGGGGT TAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGG AGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGACCAAGGGTCAGGGAGG CCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGG GGTTAGGGAGGCCGGGGTTATGGAGGCAGGGATTATGGAGGCAGGGATTA GGGAGGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	466	0.0022	1207	c.47 others(1218): Show c.4759_*4760insTGCCTCCCTAATCCCTGCCTCCATAATCCCTGCC TCCATAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCT AACCCCGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAAC CCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCA GCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGCCTC CCTAATCCCTGCCTCCATAATCCCTGCCTCCATAACCCCGGCCTCCCTAA CCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCT GGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCC TCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCT AACCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCTGGCCTCTCTAAC CCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTG GCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTTCCTAACCCCCAGCC TCCCTACCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCGGCCTCCCT AACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAAC CCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTG GCCTCCCTGACCCTTGGTCTCCCTAACCCCAGCCTCCCTAACCCCGGCCT CCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCT AACCCCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACC CCAGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCTGG CCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCT CTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAAT CCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCC GGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCT TCCCTGACCCTTGGTCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCC TAACCCCGGCCTCCCTAACCCCT	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4538		chr11	TogoVar
WDR25_chr14_100371485_100535303	100526932	A A	ATCACCAC others(1200): Show ATCACCACCACCACCACCATTATCACCAGGACCAGCACCATCAGCATCAC TATCTCTATACCCACCACCACCACCACTGTCATCATTGTCACTACTACCA CTCCTGTCATCACCACCACCACCACCACCACCACCATTATCACCAGGACC AGCACCATCAGCATCACTATCTCTATACCCACCACCACCACCACTGTCAT CATTGTCACTACTACCACTCCTGTCATCACCACCACCACCACCATTATCA CCAGGACCAGCACCATCACCATCACTATCTCTATACCCACCACCACCACC ACTGTCATCATTGTCACTACTACCACTCCTGTCATCACCACCACCACCAC CATTATCACCAGGACCAGCACCATCAGCATCACTACCACCACCAGTGTCA TCACCGCCACCATCACCAGTACCACCATCAGCATCACTATCTCTATACCC ACCACCACCACTGTCATCATTGTCACTACCACCACTACTATCGTCACCAC CATCACCACTACCACCACCATTATCACCAGCACCAGCACCATCAGCATCA CTACCACCACCAGTGTCATCACCGCCACCACCACCAGTACCACCATCAGC ATCACTATCTCTATACCCACCACCACCACCACTGTCATCATTGTCACTAC TACCACTCCTGTCATCACCACCACCACCACCATTATCACCAGGACCAGCA CCATCAGCATCACTACCACCACCAGTGTCATCACCGCCACCACCACCAGT ACCACCATCAGCATCACTATCTCTATACCCACCACCTCCACTGTCATCAT TGTCACTACCACCACTACTGTCATCATCACCATTATCACCAGCACCAGCA CCATCAGCATCACTATCTCTATACCCACCACCACCACAGTCATCATTGTC ACTACTACCACTCCTGTCATCACCAGCACCACCGCCATTATCACCAGCAC CACCGCCATTATCACCAGCACCACTGCCATCAGCATCACCATCACCATCT TTGTACTCATCACCATCATCGTCACCACCGCGCCACCACCATCACTGCCA CCACTATTATCACTAGCACTACCACCATCAGCATCAGCATCACCATCTGT ATACTCACCACCATTACCATCATCGTCATCACTGCCACCACCATCACCAC TGTCCTCTTTATCTCCAGCACCACCATCATCGTCACTGTCACCATACCAC TCTCATCT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0116 a0001c0003t0001g0116	1	228	0.0044	1207	c.127 others(1224): Show c.1272+902_1272+903insCACCACCATTATCACCAGGACCAGCACC ATCAGCATCACTATCTCTATACCCACCACCACCACCACTGTCATCATTGT CACTACTACCACTCCTGTCATCACCACCACCACCACCACCACCACCATTA TCACCAGGACCAGCACCATCAGCATCACTATCTCTATACCCACCACCACC ACCACTGTCATCATTGTCACTACTACCACTCCTGTCATCACCACCACCAC CACCATTATCACCAGGACCAGCACCATCACCATCACTATCTCTATACCCA CCACCACCACCACTGTCATCATTGTCACTACTACCACTCCTGTCATCACC ACCACCACCACCATTATCACCAGGACCAGCACCATCAGCATCACTACCAC CACCAGTGTCATCACCGCCACCATCACCAGTACCACCATCAGCATCACTA TCTCTATACCCACCACCACCACTGTCATCATTGTCACTACCACCACTACT ATCGTCACCACCATCACCACTACCACCACCATTATCACCAGCACCAGCAC CATCAGCATCACTACCACCACCAGTGTCATCACCGCCACCACCACCAGTA CCACCATCAGCATCACTATCTCTATACCCACCACCACCACCACTGTCATC ATTGTCACTACTACCACTCCTGTCATCACCACCACCACCACCATTATCAC CAGGACCAGCACCATCAGCATCACTACCACCACCAGTGTCATCACCGCCA CCACCACCAGTACCACCATCAGCATCACTATCTCTATACCCACCACCTCC ACTGTCATCATTGTCACTACCACCACTACTGTCATCATCACCATTATCAC CAGCACCAGCACCATCAGCATCACTATCTCTATACCCACCACCACCACAG TCATCATTGTCACTACTACCACTCCTGTCATCACCAGCACCACCGCCATT ATCACCAGCACCACCGCCATTATCACCAGCACCACTGCCATCAGCATCAC CATCACCATCTTTGTACTCATCACCATCATCGTCACCACCGCGCCACCAC CATCACTGCCACCACTATTATCACTAGCACTACCACCATCAGCATCAGCA TCACCATCTGTATACTCACCACCATTACCATCATCGTCATCACTGCCACC ACCATCACCACTGTCCTCTTTATCTCCAGCACCACCATCATCGTCACTGT CACCATACCACTCTCATCTTCACCACCAC	WDR25	ENSG00000176473.14	transcript	ENST00000402312.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
WDR25_chr14_100371485_100535303	100526932	A A	ATCACCAC others(1200): Show ATCACCACCACCACCACCATTATCACCAGGACCAGCACCATCAGCATCAC TATCTCTATACCCACCACCACCACCACTGTCATCATTGTCACTACTACCA CTCCTGTCATCACCACCACCACCACCATTATCACCAGGACCAGCACCATC AGCATCACTATCTCTATACCCACCACCACCACCACTGTCATCATTGTCAC TACCACCACTCCTGTCATCACCACCACCACCACCATTATCACCAGGACCA GCACCATCAGCATCACTACCACCACCAGTGTCATCATTGTCACTACTACC ACTCCTGTCATCACCACCACCACCACCACCATTATCACCAGGACCAGCAC CATCAGCATCACTATCTCTATACCCACCACCACCACCACTGTCATCATTG TCACTACCACCACTCCTGTCATCACCACCACCACCACCATTATCACCAGG ACCAGCACCATCAGCATCACTACCACCACCAGTGTCATCACCGCCACCAT CACCAGTACCACCATCAGCATCACTATCTCTATACCCACCACCACCACTG TCATCATTGTCACTACCACCACTACTATCATCACCACCATCACCACTACC ACCACCATTATCACCAGCACCAGCACCATCAGCATCACTACCACCACCAG TGTCATCACCGCCACCACCACCAGTACCACCATCAGCATCACTATCTCTA TACCCACCACCTCCACTGTCATCATTGTCACTACCACCACTACTGTCATC ATCACCATTATCACCAGCACCAGCACCATCAGCATCACTATCTCTATACC CACCACCACCATCATCACCGGCACCACCGCCATTATCACCAGCACCACTG CCATCAGCATCACTATCTCTATACCCACCACCACCACAGTCATCATTGTC ACTACTACCACTCCTGTCATCACCAGCACCACCGCCATTATCACCAGCAC CACCGCCATTATCACCAGCACCACTGCCATCAGCATCACCATCACCATCT TTGTACTCATCACCATCATCGTCACCACCGCGCCACCACCATCACTGCCA CCACTATTATCACTAGCACTACCACCATCAGCATCAGCATCACCATCTGT ATACTCACCACCATTACCATCATCGTCATCACTGCCACCACCATCACCAC TGTCCTCTTTATCTCCAGCACCACCATCATCGTCACTGTCACCATACCAC TCTCATCT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	228	0.0044	1207	c.127 others(1224): Show c.1272+902_1272+903insCACCACCATTATCACCAGGACCAGCACC ATCAGCATCACTATCTCTATACCCACCACCACCACCACTGTCATCATTGT CACTACTACCACTCCTGTCATCACCACCACCACCACCATTATCACCAGGA CCAGCACCATCAGCATCACTATCTCTATACCCACCACCACCACCACTGTC ATCATTGTCACTACCACCACTCCTGTCATCACCACCACCACCACCATTAT CACCAGGACCAGCACCATCAGCATCACTACCACCACCAGTGTCATCATTG TCACTACTACCACTCCTGTCATCACCACCACCACCACCACCATTATCACC AGGACCAGCACCATCAGCATCACTATCTCTATACCCACCACCACCACCAC TGTCATCATTGTCACTACCACCACTCCTGTCATCACCACCACCACCACCA TTATCACCAGGACCAGCACCATCAGCATCACTACCACCACCAGTGTCATC ACCGCCACCATCACCAGTACCACCATCAGCATCACTATCTCTATACCCAC CACCACCACTGTCATCATTGTCACTACCACCACTACTATCATCACCACCA TCACCACTACCACCACCATTATCACCAGCACCAGCACCATCAGCATCACT ACCACCACCAGTGTCATCACCGCCACCACCACCAGTACCACCATCAGCAT CACTATCTCTATACCCACCACCTCCACTGTCATCATTGTCACTACCACCA CTACTGTCATCATCACCATTATCACCAGCACCAGCACCATCAGCATCACT ATCTCTATACCCACCACCACCATCATCACCGGCACCACCGCCATTATCAC CAGCACCACTGCCATCAGCATCACTATCTCTATACCCACCACCACCACAG TCATCATTGTCACTACTACCACTCCTGTCATCACCAGCACCACCGCCATT ATCACCAGCACCACCGCCATTATCACCAGCACCACTGCCATCAGCATCAC CATCACCATCTTTGTACTCATCACCATCATCGTCACCACCGCGCCACCAC CATCACTGCCACCACTATTATCACTAGCACTACCACCATCAGCATCAGCA TCACCATCTGTATACTCACCACCATTACCATCATCGTCATCACTGCCACC ACCATCACCACTGTCCTCTTTATCTCCAGCACCACCATCATCGTCACTGT CACCATACCACTCTCATCTTCACCACCAC	WDR25	ENSG00000176473.14	transcript	ENST00000402312.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
ZNF236_chr18_76817557_76977901	76967266	T T	TATTTGGT others(1200): Show TATTTGGTTGTTGGAGGTGATGTGATTCGTGAAATGTGTTATTTGGTTGT TGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATG TGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAG ATGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTT GGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAG GTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATGTGATT CGTGAGATGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTG TTATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTG TTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGAT GTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGA GATGTGTTATTTGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATT TGTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTGGTTGTTGGAG GTGGTGTGATCTGTGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCT GTGAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGATCTGTAAGATTTCT GATTTGGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTGACTTGGTTGTTG GAAGTGGTGTGATCTGTGACATTTGTGATTTGGTTGTTGGAGGTGGTGTG ATCTGTGAGATTTGTGATTTAGTTGTTGGAGGTGATGTGATCTGTGAGGT TTGTGATTTGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTGATTTTGTTG TTGGAGGTGGTGTGCTCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTG GTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCT GTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTT GTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGG TGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGG TGGTGGTGTGCTCTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGA TCTGTGAG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02132.hp2 HG02074.hp2 HG02132.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0099 a0001c0003t0003g0114 a0001c0003t0003g0099 a0001c0003t0003g0114	2	346	0.0058	1207	c.542 others(1224): Show c.5420-944_5420-943insGTTGTTGGAGGTGATGTGATTCGTGAAA TGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTG GTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGG TGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATGTGATTC GTGAGATGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGT TATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGT TGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATG TGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAG ATGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTT GGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAG GTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGGTGTGATC TGTGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTGTGAGATTTGT GATTTGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTTGTTGTT GGAGGTGGTGTGATCTGTGAGATTTCTGATTTGGTTGTTGGAGGTGGTGT GATCTGTAAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGCTCTGAGTTA TGTGACTTGGTTGTTGGAAGTGGTGTGATCTGTGACATTTGTGATTTGGT TGTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTAGTTGTTGGAGGTG ATGTGATCTGTGAGGTTTGTGATTTGTTGTTGGAGGTGGTGTGCTCTGAG TTATGTGATTTTGTTGTTGGAGGTGGTGTGCTCTGTGAGATTTGTGATTT GGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGA GGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGT GTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGT GAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGT GATTTGGTGTTGGAGGTGGTGGTGTGCTCTGAGATTTGTGATTTGGTGTT GGAGGTGGTGGTGTGATCTGTGAGATTTG	ZNF236	ENSG00000130856.18	transcript	ENST00000320610.14	protein_coding	30/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF236_chr18_76817557_76977901	76967266	T T	TATTTGGT others(1200): Show TATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGT TGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATG TGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAG ATGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTT GGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAG GTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATGTGATT CGTGAGATGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTG TTATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTG TTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGAT GTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGA GATGTGTTATTTGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATT TGTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTGGTTGTTGGAG GTGGTGTGATCTGTGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCT GTGAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGATCTGTAAGATTTCT GATTTGGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTGACTTGGTTGTTG GAAGTGGTGTGATCTGTGACATTTGTGATTTGGTTGTTGGAGGTGGTGTG ATCTGTGAGATTTGTGATTTAGTTGTTGGAGGTGATGTGATCTGTGAGGT TTGTGATTTGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTGATTTTGTTG TTGGAGGTGGTGTGCTCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTG GTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCT GTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTT GTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGG TGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGG TGGTGGTGTGCTCTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGA TCTGTGAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01952.hp2 HG02630.hp2 others(3): Show HG01884.hp1 HG01952.hp2 HG02630.hp2 HG02809.hp2 HG03195.hp1 NA18940.hp2	a0001 a0002 a0001 a0002	a0001c0017 a0002c0007 a0001c0017 a0002c0007	a0001c0017t0020 a0001c0017t0033 a0002c0007t0004 a0001c0017t0020 a0001c0017t0033 a0002c0007t0004	a0001c0017t0020g0339 a0001c0017t0020g0340 a0001c0017t0033g0002 others(3): Show a0001c0017t0020g0339 a0001c0017t0020g0340 a0001c0017t0033g0002 a0002c0007t0004g0208 a0002c0007t0004g0210 a0002c0007t0004g0214	6	346	0.0173	1207	c.542 others(1224): Show c.5420-944_5420-943insGTTGTTGGAGGTGATGTGATTCGTGAGA TGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTG GTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGG TGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATGTGATTC GTGAGATGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGT TATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGT TGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATG TGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAG ATGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTT GGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAG GTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGGTGTGATC TGTGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTGTGAGATTTGT GATTTGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTTGTTGTT GGAGGTGGTGTGATCTGTGAGATTTCTGATTTGGTTGTTGGAGGTGGTGT GATCTGTAAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGCTCTGAGTTA TGTGACTTGGTTGTTGGAAGTGGTGTGATCTGTGACATTTGTGATTTGGT TGTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTAGTTGTTGGAGGTG ATGTGATCTGTGAGGTTTGTGATTTGTTGTTGGAGGTGGTGTGCTCTGAG TTATGTGATTTTGTTGTTGGAGGTGGTGTGCTCTGTGAGATTTGTGATTT GGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGA GGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGT GTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGT GAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGT GATTTGGTGTTGGAGGTGGTGGTGTGCTCTGAGATTTGTGATTTGGTGTT GGAGGTGGTGGTGTGATCTGTGAGATTTG	ZNF236	ENSG00000130856.18	transcript	ENST00000320610.14	protein_coding	30/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(1201): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAG GGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGCAG GCAGGAAGGGAAGGGGGAAGGCAAGAAGGGAGGGGGAAGGCAGGAAGGGA GGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGCAGGCA GGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGG AAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAAGAAGGGAGGGGGAAGGC AGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGG GGGCAGGCAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGG CAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAG GGGGAAGGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGGAGGGGAAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGG AAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAG GGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGCAG GCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGCAGGCAGGAA GGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAAGAAGGGAGGGGGAA GGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGG AAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAG GGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0003 a0001c0036t0003	a0001c0036t0003g0061 a0001c0036t0003g0061	1	344	0.0029	1208	c.85- others(1225): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTTCCCCTCC CTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT TCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCC CCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTTCCCCT CCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCC TTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCC TTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGC CTGCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTC CCCCTTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTT CCTGCCTTCCCCCTCCCTTCTTGCCTTCCCCCTCCCTTCCTGCCTTCCCC CTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCT GCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCC CCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCTT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCT CCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCTGCCCCCTCCCTTCC TGCCTGCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCC TCCCTTCTTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGC CTGCCCCCTTCCCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCC CTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CRTC3_chr15_90524923_90650345	90647303	A A	ACCCCTAC others(1201): Show ACCCCTACTCCTCCTCACCCATCCTCCTCCACACCCCTTCTAGTCCACCA CTCCCCCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACTCTTACCCCT CCACACCCCTCCTCTTCCACCAGACCCCTCCTCCACACCCCTCCCCCCAC CTCACTTCTCCCCCTTCACACACCTCCTCAACCTTCACATCCCTCCCCCT CCACATCCCTTCCCCCTCCTCACCCCTCTCCCCTCATCACCTCTCCTCCT CCTCCACACCCATCATCCTCCACGCCCCTTCTCCTCACTCCTCCTCCTCC TGCACACCCCTTCTCCTCCTCACCCTTTGTCCTACTCCACACCACTCCTC TGCCTCACCTCTTCTCTTCACCCCTTCTCCTCCTCCATACCCCTCCTTCT CAACTCTCCTCCTCCACACTCCTCCTCACCCCGTCCTCCTCCAAACCCTT CCCCCTCCTCTTGGTTCCTCCTCCACACCCGTCCTGCTCCACATCCCTCC CCCTCCACCCCCTCCACACCCCTCCTCCTCCACACCCCTCCTCTGCCTCA TGCCTCTTCCTCACCCCTCCTCCTCCACACCCCTCATCCTCCTCCACACC CCTCCTCCGCCTCACCCCTCCTCCGCCTCACCCCTCCTCCTCACCCCTTC TCCTCTCCACATCCCTCCTGCTCCACATCCCTCCTGCTCCACATCCCTCC TGCTCCACATCCCTCCTGCTCCACATCCCTCCTGCTTCACACCCCTCCCC CTCCTCCTTCACACCCCTCATCCTCCACACTCCTCCCCTCCACACCCCTC CTCCTCTACACCCCGCCTCCTCCTCCACACCCCTCCCCCTCACCTCTCCT CCTCCACACTCACTCCTCCACACCCCTCCTCCTCACCCCTCCTCAACCTC CACACCACACCCCCTCCACTACCCGCTCCTCACCTCTCCCCTCCCTCACC CCTCCTCCTCCACACCCCTCCTCCTCCTCCACATCCCTACCCCTCCACAC CCCTCCCACCTCACTTTTCCCCCTTCACACACCTCCTCAACCTTCACATC CCTCCCCCTCCACATTCCTTCCCCCTCCTCACCCCTCTCCCCTCATCACC TCTCCTCCTCCTCCACACCCCTCCTCCTCCACACCCCTCCTCCTCCTCCA CACCCCTCCTCTTCCTCCTCCACACCCCTCCTCCTCAACCCTCCTCCACA CCCCTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	276	0.0036	1208	c.51 others(1219): Show c.5163_*5164insCCCCTACTCCTCCTCACCCATCCTCCTCCACACC CCTTCTAGTCCACCACTCCCCCCTCCTCCTCCACACCCCTCCTCCTCCTC CACACTCTTACCCCTCCACACCCCTCCTCTTCCACCAGACCCCTCCTCCA CACCCCTCCCCCCACCTCACTTCTCCCCCTTCACACACCTCCTCAACCTT CACATCCCTCCCCCTCCACATCCCTTCCCCCTCCTCACCCCTCTCCCCTC ATCACCTCTCCTCCTCCTCCACACCCATCATCCTCCACGCCCCTTCTCCT CACTCCTCCTCCTCCTGCACACCCCTTCTCCTCCTCACCCTTTGTCCTAC TCCACACCACTCCTCTGCCTCACCTCTTCTCTTCACCCCTTCTCCTCCTC CATACCCCTCCTTCTCAACTCTCCTCCTCCACACTCCTCCTCACCCCGTC CTCCTCCAAACCCTTCCCCCTCCTCTTGGTTCCTCCTCCACACCCGTCCT GCTCCACATCCCTCCCCCTCCACCCCCTCCACACCCCTCCTCCTCCACAC CCCTCCTCTGCCTCATGCCTCTTCCTCACCCCTCCTCCTCCACACCCCTC ATCCTCCTCCACACCCCTCCTCCGCCTCACCCCTCCTCCGCCTCACCCCT CCTCCTCACCCCTTCTCCTCTCCACATCCCTCCTGCTCCACATCCCTCCT GCTCCACATCCCTCCTGCTCCACATCCCTCCTGCTCCACATCCCTCCTGC TTCACACCCCTCCCCCTCCTCCTTCACACCCCTCATCCTCCACACTCCTC CCCTCCACACCCCTCCTCCTCTACACCCCGCCTCCTCCTCCACACCCCTC CCCCTCACCTCTCCTCCTCCACACTCACTCCTCCACACCCCTCCTCCTCA CCCCTCCTCAACCTCCACACCACACCCCCTCCACTACCCGCTCCTCACCT CTCCCCTCCCTCACCCCTCCTCCTCCACACCCCTCCTCCTCCTCCACATC CCTACCCCTCCACACCCCTCCCACCTCACTTTTCCCCCTTCACACACCTC CTCAACCTTCACATCCCTCCCCCTCCACATTCCTTCCCCCTCCTCACCCC TCTCCCCTCATCACCTCTCCTCCTCCTCCACACCCCTCCTCCTCCACACC CCTCCTCCTCCTCCACACCCCTCCTCTTCCTCCTCCACACCCCTCCTCCT CAACCCTCCTCCACACCCCTCCTC	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1959		chr15	TogoVar
CYLC1_chrX_83856146_83891698	83878226	T T	TATATATA others(1201): Show TATATATATAAATATATATAAATATATATAAAAATATATATAAATATATA TAATATATATATAAAAATATATATTATATATATTATATATATAAATATAT ATATAAAAATATATATTATATATATTATATATATAAATATATATATAAAA ATATATATTATATATATTATATATATAAATATATATATAAAAATATATAT TATATATATTATATATATAAATATATATATAAAAATATATATTATATATA TTATATATATAAATATATATATATAAATATATATTATATATATTATATAT ATAAATATATATATAAATATATATTATATATATTATATATAATATATATA TAAAATATATATAAATATATATAAATATATATAAAATATATAAATATATA TAAAAATATATATAAAATATATAAATATATATAAAAATATATATATAAAT ATATATATAAAAATATATATAAAAATATGTATATAATATATATATGAAAA TATATATAAAAATATATATATAAATATATATCAATATATATATAAAATAT ATATAAATATATATATAAAATATATATATAAAATATATATAAATACATAT ATAAATATATATATAAATATATATAAATACATATATAAATATATATATAA ATATATATAAATATATATATATAAAATATATATAAAATATATATATAAAA TATATATAAAAATATATATATAAAATATATATAAAAATATATATATAAAA TATATATAAAAATATATATATAAAATATATATAAAAATATATATATAAAA TATATATAAAAATATATATAAAAATATATATATAAAATATATATAAAAAT ATATATATAAAATATATATAAAAATATATATAAATATATATAAATATATA AAAACATATATAAATATATAAATATATATAAATATATAAATATATATATA AATATATAAATATATATAAATATATATAAATATATAAATATATATAAATA TATATAAATATATATATAAATATATAAATATATATATAAATATATATAAA TATATATAAATATATATAAATATATATAAATATATATATAAATATATATA AATATATATAAATATATATAAATATATATAAATATATATATAAATATATA TATAAATATATATATAAATATATATAAATATATATAAATATATAAATATA TATATATAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	208	0.0048	1208	c.192 others(1227): Show c.1923+3602_1923+3603insTAAATATATATAAATATATATAAAAA TATATATAAATATATATAATATATATATAAAAATATATATTATATATATT ATATATATAAATATATATATAAAAATATATATTATATATATTATATATAT AAATATATATATAAAAATATATATTATATATATTATATATATAAATATAT ATATAAAAATATATATTATATATATTATATATATAAATATATATATAAAA ATATATATTATATATATTATATATATAAATATATATATATAAATATATAT TATATATATTATATATATAAATATATATATAAATATATATTATATATATT ATATATAATATATATATAAAATATATATAAATATATATAAATATATATAA AATATATAAATATATATAAAAATATATATAAAATATATAAATATATATAA AAATATATATATAAATATATATATAAAAATATATATAAAAATATGTATAT AATATATATATGAAAATATATATAAAAATATATATATAAATATATATCAA TATATATATAAAATATATATAAATATATATATAAAATATATATATAAAAT ATATATAAATACATATATAAATATATATATAAATATATATAAATACATAT ATAAATATATATATAAATATATATAAATATATATATATAAAATATATATA AAATATATATATAAAATATATATAAAAATATATATATAAAATATATATAA AAATATATATATAAAATATATATAAAAATATATATATAAAATATATATAA AAATATATATATAAAATATATATAAAAATATATATAAAAATATATATATA AAATATATATAAAAATATATATATAAAATATATATAAAAATATATATAAA TATATATAAATATATAAAAACATATATAAATATATAAATATATATAAATA TATAAATATATATATAAATATATAAATATATATAAATATATATAAATATA TAAATATATATAAATATATATAAATATATATATAAATATATAAATATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATATAAATATATATAAATATATATAAATATATATAAATATATATAAATA TATATATAAATATATATATAAATATATATATAAATATATATAAATATATA TAAATATATAAATATATATATATAAATATATA	CYLC1	ENSG00000183035.13	transcript	ENST00000329312.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
DCLK1_chr13_35763652_36136382	35958284	G G	GCTATAAC others(1201): Show GCTATAACCACCACCACCACCACCACCACTATAACCACCATCATCATCAC CACCACTACCACTACTATAACCATCACCACCATCACTGCTATAACCACCA CCACCACCACTATAACCACCACCACCACCACCACCACTATAATCATTACC ACTATAACCACCACTACCACCACTACCACTATGATAACCATCACCACCAC CACTATAACCACCATCATCATCACCACCACTACCACTACTACAACCATTA CCACCATCACTGCTATAACCACCACCACCACCACCACCACTATAACCACC ATCATCATCACCACCACTACCACTACTATAACCATCACCACCATCACTGC TATAACCACCACCACCACCACTATAACCACCACCACCACCACCACCACCA CTATAATCATTACCACTATAACCACCACTACCACCACTACCACTATGATA ACCATCACCAACACCACTATAACCACCATCATCATCACCACCACTACCAC TACTATAACCATTACCACCATCACTGCTATAACCACCACCACCACCACTA TAACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCATT ATAACCATCACCACCACCACTATAACCACCATCATCATCACCACCACTAC CACTACTATAACCATCACCACCATCACCACTATAACCACCACCACCACCA CCACCACCACCACTATAACCATCACCACCATCACCACTATAACCACCACT ACCACCACCACCATTATAACCATCACCAACACCACTATAACCACCATCAT CATCACCACCACTACCACTACTATAACCATTACCACCATTACTACTATAA CCACCACCACCACCACCACCACTATAACCACCACCACCACCACCACCACC ACTATAATCATTACCACTATAACCACCACTACCACCACTACCACTATGAT AACCATCACCAACACCACTATAACCACCAATGCCAAGAAGTGTTCATAGC AGGAGTCATAAACACAGGACCAACCAGGGATAGGACCAACCAGGACCAAC CAGGACCAACACCACCACCACTACTACCACTACTATAACCATCACCACCA TCACTGCTATAATCACCACCACCACCACCATCACTATAATCATCACCATC ATCACCACTATAACCACCACTACCACCACCACCACCAGTTATAACCATCA CCACCACTA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0164 a0001c0006t0006g0164	1	230	0.0044	1208	c.724 others(1227): Show c.724-10828_724-10827insTAGTGGTGGTGATGGTTATAACTGGT GGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGATGGTGATGATTATAG TGATGGTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATA GTAGTGGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCTGGTTGGTC CTATCCCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAACACTTCTTG GCATTGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGT GGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGG TGGTGGTTATAGTGGTGGTGGTGGTGGTGGTGGTTATAGTAGTAATGGTG GTAATGGTTATAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGT GGTGTTGGTGATGGTTATAATGGTGGTGGTGGTAGTGGTGGTTATAGTGG TGATGGTGGTGATGGTTATAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTT ATAGTGGTGATGGTGGTGATGGTTATAGTAGTGGTAGTGGTGGTGATGAT GATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATGGTGGTGGTGGTAG TGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTGGTGGTGGTGGTG GTTATAGCAGTGATGGTGGTAATGGTTATAGTAGTGGTAGTGGTGGTGAT GATGATGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGG TGGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTG GTGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGAT GGTTATAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGG TGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTAATGGTTGTAGTAGTG GTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTAT CATAGTGGTAGTGGTGGTAGTGGTGGTTATAGTGGTAATGATTATAGTGG TGGTGGTGGTGGTGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTG ATGGTGGTGATGGTTATAGTAGTGGTAGTGGTGGTGATGATGATGGTGGT TATAGTGGTGGTGGTGGTGGTGGTGGTTATAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DGKB_chr7_14140049_14907751	14471356	A A	AATATATG others(1201): Show AATATATGTGTATACATACATATATGTATGGAATATATGTGTATACATAC ATATATGTATGGAATATATGTGTATACATACATATATGTATGGAATATAT GTGTATACATACATATATGTATGGAATATATGTGTATACATACATATATG TATGGAATATATGTGTATACATACATATATGTATGGAATATATGTGTATA CATACATATATGTATGGAATATATGTGTATACATACATATATGTATGGAA TATATGTGTATACATACATATATGTATGTATATATGTGTATACATACATA TATGTGTGTATATATGTGTATATATACATATATATGTGTATATATACATA TATGTGTGTATATATGTGTATACATACATATATGTGTGTATATATGTGTA TATATGTGTATACATACATATATGTGTGTATATATGTGTATACATACATA TATGTGTGTATATATGTGTATACACACATATATGTGTATATATGTGTATA CACACATATGTGTGTATATATGTGTATACACACATATGTGTGTGTATATA TGTGTATACACACATATGTGTGTGTATATATGTGTATACACACATATGTG TGTATATATGTGTATACACACATATGTGTGTGTATATATGTGTATACACA CATATGTGTATATATGTGTATACACACATATATGTGTGTGTATATATGTG TGTATATACACATATATGTGTGTGTATATGTGTGTATATACACATATGTG TGTGTATATGTGTGTATATACACATATGTGTGTGTATATGTGTGTATATA CACATATATATGCGTGTGTATATGTGTGTATATACACATATATATGCGTG TGTATATGTGTGTATATACACATATATATGCGTGTGTATATGTGTGTATA TACATATGCGTGTGTATATGTGTGTATATACATATGCGTGTGTATATGTG TGTATATACATATGCGTGTATATATGTGTGTATATACATATGCGTGTATA TATGTGTGTATATACATATGTGTGTATATATGTGTATATATACATATATA TGAGTGTATATATGTGTATATATACATACATATGCGTGTATATATGTGTA TACATACATATATGCATGTATATATGTGTATACATACATATATGCATGTA TATATGTGTATACATACATATATGCATGTATATATGTGTATACATACATA TATGCATGT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0026 a0001c0004t0026	a0001c0004t0026g0138 a0001c0004t0026g0138	1	148	0.0068	1208	c.183 others(1227): Show c.1835+6804_1835+6805insACATGCATATATGTATGTATACACAT ATATACATGCATATATGTATGTATACACATATATACATGCATATATGTAT GTATACACATATATACATGCATATATGTATGTATACACATATATACACGC ATATGTATGTATATATACACATATATACACTCATATATATGTATATATAC ACATATATACACACATATGTATATACACACATATATACACGCATATGTAT ATACACACATATATACACGCATATGTATATACACACATATACACACGCAT ATGTATATACACACATATACACACGCATATGTATATACACACATATACAC ACGCATATATATGTGTATATACACACATATACACACGCATATATATGTGT ATATACACACATATACACACGCATATATATGTGTATATACACACATATAC ACACACATATGTGTATATACACACATATACACACACATATGTGTATATAC ACACATATACACACACATATATGTGTATATACACACATATATACACACAC ATATATGTGTGTATACACATATATACACATATGTGTGTATACACATATAT ACACACACATATGTGTGTATACACATATATACACACATATGTGTGTATAC ACATATATACACACACATATGTGTGTATACACATATATACACACACATAT GTGTGTATACACATATATACACACATATGTGTGTATACACATATATACAC ATATATGTGTGTATACACATATATACACACATATATGTATGTATACACAT ATATACACACATATATGTATGTATACACATATATACACATATATACACAC ATATATGTATGTATACACATATATACACACATATATGTATATATACACAT ATATATGTATATATACACATATATACACACATATATGTATGTATACACAT ATATACATACATATATGTATGTATACACATATATTCCATACATATATGTA TGTATACACATATATTCCATACATATATGTATGTATACACATATATTCCA TACATATATGTATGTATACACATATATTCCATACATATATGTATGTATAC ACATATATTCCATACATATATGTATGTATACACATATATTCCATACATAT ATGTATGTATACACATATATTCCATACATATATGTATGTATACACATATA TTCCATACATATATGTATGTATACACATATAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14471376	T T	TATATGTA others(1201): Show TATATGTATGGAATATATGTGTATACATACATATATGTATGGAATATATG TGTATACATACATATATGTATGGAATATATGTGTATACATACATATATGT ATGGAATATATGTGTATACATACATATATGTATGTATATATGTGTATACA TACATATATGTGTGTATATATGTGTATATATACATATATATGTGTATACA TACATATATGTGTGTATATATGTGTATACATACATATATGTGTGTATATA TGTGTATATATGTGTATACGCACATATGTGTGTATATATGTGTATACGCA CATATGTGTGTATATATGTGTATACGCACATATGTGTGTATATATGTGTA TACGCACATATGTGTGTATATATGTGTATACGCACATATGTGCGTGTATA TGTGTGTATACGCACATATGTGCGTGTGTATGTGTGTATACGCACATATG TGCGTGTGTATGTGTGTATACGCACATATGTGCGTGTGTATGTGTGTATA CGCACATATGTGCGTGTGTATGTGTGTATACGCACATATGTGTGTGTATG TGTGTATACGCACATATGTGTGTGTATGTGTGTATACGCACATATATGCG TGTGTATGTGTGTGTATACGCACATATATGCGTGTGTATGTGTGTGTATA CGCACATATATGCGTGTGTATGTGTGTGTATATGCACATATATGCGTGTG TATGTGTGTGTATATACATATGCGTGTGTATGTGTGTGTATATACATATG CGTGTGTATGTGTGTGTATATACATATGCGTGTGTATATGTGTGTATATA CATATGCGTGTGTATATGTGTGTATATACATATGCGTGTGTATATGTGTG TATATACATATGTGTGTGTATATGTGTGTATATACATATGTGTGTATATA TGTGTATATATACATATATATGAGTGTATATATGTGTATATATACATATA TATGCGTGTATATATACGTATATATGCATGTATATATGTGTATACATACA TATATGCATGTATATATGTGTATACATACATATATGCATGTATATATGTG TATACATACATATATGCATGTATATATGTGTATACATACATATATGCATG TATATATGTGTATACATACATATATGCATGTATATATGTGTATTCATACA TATATGCATGTATATATGTGTATTCATACATATATGCATGTATATATGTG TATTCATAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0082 a0001c0009t0002g0082	1	148	0.0068	1208	c.183 others(1227): Show c.1835+6784_1835+6785insGTATGAATACACATATATACATGCAT ATATGTATGAATACACATATATACATGCATATATGTATGAATACACATAT ATACATGCATATATGTATGTATACACATATATACATGCATATATGTATGT ATACACATATATACATGCATATATGTATGTATACACATATATACATGCAT ATATGTATGTATACACATATATACATGCATATATGTATGTATACACATAT ATACATGCATATATACGTATATATACACGCATATATATGTATATATACAC ATATATACACTCATATATATGTATATATACACATATATACACACATATGT ATATACACACATATACACACACATATGTATATACACACATATACACACGC ATATGTATATACACACATATACACACGCATATGTATATACACACATATAC ACACGCATATGTATATACACACACATACACACGCATATGTATATACACAC ACATACACACGCATATGTATATACACACACATACACACGCATATATGTGC ATATACACACACATACACACGCATATATGTGCGTATACACACACATACAC ACGCATATATGTGCGTATACACACACATACACACGCATATATGTGCGTAT ACACACATACACACACATATGTGCGTATACACACATACACACACATATGT GCGTATACACACATACACACGCACATATGTGCGTATACACACATACACAC GCACATATGTGCGTATACACACATACACACGCACATATGTGCGTATACAC ACATACACACGCACATATGTGCGTATACACACATATACACGCACATATGT GCGTATACACATATATACACACATATGTGCGTATACACATATATACACAC ATATGTGCGTATACACATATATACACACATATGTGCGTATACACATATAT ACACACATATGTGCGTATACACATATATACACATATATACACACATATAT GTATGTATACACATATATACACACATATATGTATGTATACACATATATAT GTATATATACACATATATACACACATATATGTATGTATACACATATATAC ATACATATATGTATGTATACACATATATTCCATACATATATGTATGTATA CACATATATTCCATACATATATGTATGTATACACATATATTCCATACATA TATGTATGTATACACATATATTCCATACATAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1201): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0008 a0004c0008t0008	a0004c0008t0008g0277 a0004c0008t0008g0277	1	316	0.0032	1208	c.49 others(1219): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCC CTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGG TAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTC CCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTG CCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCG CCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGA CAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTG GCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGT CGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCC TCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGA GAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCG CTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTT AGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCT GGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCC CTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCT CGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCC ATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGT TGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATG AGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGC CCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAAC TATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGT CAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTT GTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGC TCCCCCTTCCCGTCCACATGCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1201): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00609.hp2 HG01069.hp2 others(10): Show HG00438.hp1 HG00609.hp2 HG01069.hp2 HG01978.hp1 HG02004.hp1 HG02155.hp1 HG02155.hp2 HG02523.hp1 HG02615.hp1 HG03471.hp2 NA18957.hp2 NA19056.hp1 NA19091.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0011 a0019 a0022 a0029 a0053	a0001c0002 a0001c0006 a0002c0003 others(10): Show a0001c0002 a0001c0006 a0002c0003 a0003c0004 a0004c0008 a0004c0025 a0004c0047 a0011c0037 a0019c0133 a0022c0117 a0022c0118 a0029c0039 a0053c0100	a0001c0002t0002 a0001c0006t0001 a0002c0003t0001 others(10): Show a0001c0002t0002 a0001c0006t0001 a0002c0003t0001 a0003c0004t0001 a0004c0008t0005 a0004c0025t0001 a0004c0047t0001 a0011c0037t0001 a0019c0133t0002 a0022c0117t0001 a0022c0118t0001 a0029c0039t0002 a0053c0100t0001	a0001c0002t0002g0013 a0001c0006t0001g0158 a0002c0003t0001g0128 others(10): Show a0001c0002t0002g0013 a0001c0006t0001g0158 a0002c0003t0001g0128 a0003c0004t0001g0163 a0004c0008t0005g0063 a0004c0025t0001g0111 a0004c0047t0001g0206 a0011c0037t0001g0138 a0019c0133t0002g0035 a0022c0117t0001g0145 a0022c0118t0001g0131 a0029c0039t0002g0258 a0053c0100t0001g0223	13	316	0.0411	1208	c.49 others(1219): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC TCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGT AACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGC TGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTA GAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTG GGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCC TTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTC GGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCA TGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTT GCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGA GGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCC CCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACT ATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTC AGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTG TTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCT CCCCCTTCCCGTCCACATGCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1201): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG02080.hp2 HG02135.hp2 HG01175.hp1 HG02080.hp2 HG02135.hp2	a0004 a0008 a0010 a0004 a0008 a0010	a0004c0008 a0008c0026 a0010c0017 a0004c0008 a0008c0026 a0010c0017	a0004c0008t0001 a0008c0026t0002 a0010c0017t0003 a0004c0008t0001 a0008c0026t0002 a0010c0017t0003	a0004c0008t0001g0112 a0008c0026t0002g0008 a0010c0017t0003g0281 a0004c0008t0001g0112 a0008c0026t0002g0008 a0010c0017t0003g0281	3	316	0.0095	1208	c.49 others(1219): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCC CTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGG TAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTC CCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTG CCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCG CCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGA CAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTG GCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGT CGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCC TCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGA GAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCG CTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTT AGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCT GGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCC CTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCT CGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCC ATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGT TGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATG AGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGC CCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAAC TATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGT CAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTT GTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGC TCCCCCTTCCCGTCCACATGCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1201): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGTATCCATATATCCACTTGCA GATTCCAAAAGAAGAGTGTCTCAAAACTGCTCTATCAATAGAAAGGTTCC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0026 a0026	a0026c0110 a0026c0110	a0026c0110t0003 a0026c0110t0003	a0026c0110t0003g0284 a0026c0110t0003g0284	1	316	0.0032	1208	c.49 others(1219): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGTATCC ATATATCCACTTGCAGATTCCAAAAGAAGAGTGTCTCAAAACTGCTCTAT CAATAGAAAGGTTCCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGT AACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGC TGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTA GAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTG GGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCC TTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTC GGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCA TGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTT GCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGA GGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCC CCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACT ATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTC AGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTG TTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCT CCCCCTTCCCGTCCACATGCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DOCK2_chr5_169632275_170088382	169826208	T T	TAAAGAAA others(1201): Show TAAAGAAATATGAACTAGAAGAAAACCTAGGCATTACCATTCAGGACATA GGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAAA AGACAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAG CAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACATGGGAGAAA ATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAA TGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGT GGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCC AAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCA AATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCA TTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGGA ACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAA GTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACC CAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCTGC TATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGC AAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGA AAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGAT GAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCT CAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCA TAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATC ACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTG GGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGC ATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACC CTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAATAACAATAAAA TGAGATAAAATCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0002 a0001c0043t0002	a0001c0043t0002g0119 a0001c0043t0002g0119	1	184	0.0054	1208	c.270 others(1229): Show c.2704-14535_2704-14534insTAGAAGAAAACCTAGGCATTACCA TTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCA ATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTAAAGAG CTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAA CATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCC AGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCC CATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACA TTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATC AGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAG AATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCG GAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAA CCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAAT ACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATA AATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTA TTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGA CTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCA TAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAA ACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCAT ATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGA AGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAG GGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGC AGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGT GCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAA TAACAATAAAATGAGATAAAATCTAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAGAAATATGAAC	DOCK2	ENSG00000134516.20	transcript	ENST00000520908.7	protein_coding	26/51		INFO_REALIGN_3_PRIME	chr5	TogoVar
EEF1A2_chr20_63483014_63504083	63486870	C C	CCTGCATC others(1201): Show CCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCAT CCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCATCCTCAGG GAACCTGCCCACCCTCCACCCAACCCTCCTCCGCATCCTCAGGGAACCTG CCCACCCTTCCCCCCGACCCTCCTCTGCATCCTCAGGGAACCTGCCCACC CTCCACCCGACCCTTCTCCGCATCCTCAGGGAACCTGCCCATCCTCCACC CTGACCTCACCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCGACCCT CCTCTTCATCCTCAGGGAACCTGCCCACCCTCCACCCGACCTCCTCTGCA TCCTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAG GGAGCCTGCCCACCCTCCACCCCGACCCTCCTCCGCATCCTCAGGGAACC TGCCCATCCTCCACCCTGACCTCACCTGCATCCTCAGGGAACCTGCCCAT CCTCCACCCTGACCTCACCTGCATCCTCAGGGAACCTGCCCACCCTCCAC CCGACCCTCCTCTTCATCCTCAGGGAACCTGCCCACCCTCCACCCGACCT CCTCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCTCTGC ATCCTCAGGGAGCCTGCCCACCCTCCACCCCGACCCTCCTCCGCATCCTC AGGGAAGCTGCCCAACCTCCACCCCACCCTCCTCCGCATCCTCAGGGAAC CTGCCCATCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCA TCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCACCCTCCC CCCCGACCCTCCTCTGTATCCTCAGGGAACCTGCCCACCCTCCACCCCAC CCTCCTCCGCATCCTCAGGGAAGCTGCCCACCCTCCACCCTGACCCTCCT CTGCATCCTCAAGGAACCTGCCCACCCTCCACCCCACCCTCCTCTGCATC CTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGG AACCTGCCCACCTTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGC CCACCTTCCACCCCACCCTCCTCCGCATCCTCAGGGAGCCTGCCCACCCT CCACCCAGACCCTCCTCTGCATCCTCAGGGAAGCTGCCCAACCTCCACCC CACCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0130 a0001c0002t0001g0130	1	374	0.0027	1208	c.14 others(1219): Show c.1427_*1428insAGGAGGGTGGGGTGGAGGTTGGGCAGCTTCCCTG AGGATGCAGAGGAGGGTCTGGGTGGAGGGTGGGCAGGCTCCCTGAGGATG CGGAGGAGGGTGGGGTGGAAGGTGGGCAGGTTCCCTGAGGATGCAGAGGA GGGTGGGGTGGAAGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGG GTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGG GTGGGCAGGTTCCTTGAGGATGCAGAGGAGGGTCAGGGTGGAGGGTGGGC AGCTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCC CTGAGGATACAGAGGAGGGTCGGGGGGGAGGGTGGGCAGGTTCCCTGAGG ATGCGGAGGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCGGA GGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCGGAGGAGGGT GGGGTGGAGGTTGGGCAGCTTCCCTGAGGATGCGGAGGAGGGTCGGGGTG GAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTG GGCAGGTTCCCTGAGGATGCAGAGGAGGTCGGGTGGAGGGTGGGCAGGTT CCCTGAGGATGAAGAGGAGGGTCGGGTGGAGGGTGGGCAGGTTCCCTGAG GATGCAGGTGAGGTCAGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCAG GTGAGGTCAGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCGGAGGAGGG TCGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGGT GGAGGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGTCGGGTGGAGGGTG GGCAGGTTCCCTGAGGATGAAGAGGAGGGTCGGGTGGAGGGTGGGCAGGT TCCCTGAGGATGCAGGTGAGGTCAGGGTGGAGGATGGGCAGGTTCCCTGA GGATGCGGAGAAGGGTCGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCA GAGGAGGGTCGGGGGGAAGGGTGGGCAGGTTCCCTGAGGATGCGGAGGAG GGTTGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGGG TGGAGGATGGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGGGTGGAGGA TGGGCAGGTTCCCTGAGGATGCAG	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1143		chr20	TogoVar
FOXP1_chr3_70949708_71588728	71435248	A A	AAGGAAGG others(1201): Show AAGGAAGGAAGAGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGA GGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACG GAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGA GGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACG GAGGGAGGGAAGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGA GGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACG GAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGA GGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACG GAGGGAGGGAAGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGA GGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGG GAGGGAAGGAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAGGGA GGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGG GAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAA GGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGG GAGGGAAGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGGA GGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAAGGA GGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGGA GGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGA GGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGG GAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0088 a0001c0001t0019g0088	1	96	0.0104	1208	c.-16 others(1229): Show c.-168+58177_-168+58178insCCCTCCCTCCCTCCGTCCCTCCCT CCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCC GTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCT CCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCC GTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCT CCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCC GTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCT CCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCC GTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCT CCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCC GTCCCTTCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTCCCT CCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCC GTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCT CCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCC GTCCCTTCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCCT CCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCGTCC CTCCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCCTCCCT CCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCC CTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCT CCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCC CTTCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCCTCCCT CCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCC CTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCT CCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCC CTTCCTCCCTCCCTCCGTCCCTCTCTTCCTTCCT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
JAKMIP3_chr10_132060946_132189858	132173041	C C	CTCTCCCC others(1201): Show CTCTCCCCTTCCCTCTCTCTCTCGTCCCCTTCCTCTCTCTCTCTCCCCCT CTCCTTCCCTCTCCCTCTCTTACCCTTTCTTCCCTCTCCTTCCCTCTCCA TCCCTCTCCTCTCCTTCCTTCCTCTCCTTCCCTCTCCCTCTCTCCCCCTC CTTCCCTCTCCCCTCTCTCCCCCCTCCTTCCCTCTCCCTCTCTCCCCCCT CCTTCCCTCTCCCTCTCTCCCCCCTCCTTCCCTCTCCCTCTTCCCCCCTC CTTCCCTCTCCCTCACTCCCCCCTCCTTCCCTCTCCCCACACCCCCACAC CTTCCCTCCCCACACCCACCCTCCTTCCCTCTCCCTCACTCCCCCCTCCT TCCCTCTCCCTCACTCCCCCCTCCTTCCCTCTCCCTCACTCCCCCCTCCT TCCCACTCCCTCACCACCCCTCCTCCCTCTCCCACTCCCCCCTCCTTCCC TCACTCCCCCTCTCCCCCCTCACCCCCCCCCCTCCCCCCCACCCCCCCTC TCCCTCTCTCCCCCCCACCCCCTCTCCCCCTCTCTCCCACCCCACCCCCC ACCCCCCTCTCCCCCCCCTCTCACCCCCCCTCCCCCCTCCCCCACCTCTC TACCCCTCTCCCCCCCCACTCCCCCCTCCCCCCTCCACCCCTCCCCCCTC CCCCTCCCCCCTCCTTCCCTCTCTCTCCCTCTCCCCCTCCTACCCTCTCT CTCCCTCTCCCCCTCCTTCCCTCTCTCACCCCCTCCCCCTCCTTCCCTCT CTCTCTCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCCTCCCCTCCCCCT CCTTCCCTCTCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCTTCCCTCTCT CCCCCTCCTTCCCTCACTCTCCCCCTCCCCCTCCTTCTCCTTCCCCTCTC TCTCCCCCTCCCCCTCCTTCTCCTTCCTCTCTCTCTCCCCCTCCCCCTCC CCCTCCTTCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCT CTCACCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCC CTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTTCCCCCTCCCCC TCCTTCCCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTC CCCCTCCTTCCCTCTCTCTCTCCCCCCTCCCCCTCCTTCCCTCTCTCTCT CCCCCTCCT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0109 a0003c0002t0001g0109	1	158	0.0063	1208	c.11 others(1229): Show c.1103+4010_*1103+4011insTCCCCTTCCCTCTCTCTCTCGTCC CCTTCCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCCCTCTCTTACCCTT TCTTCCCTCTCCTTCCCTCTCCATCCCTCTCCTCTCCTTCCTTCCTCTCC TTCCCTCTCCCTCTCTCCCCCTCCTTCCCTCTCCCCTCTCTCCCCCCTCC TTCCCTCTCCCTCTCTCCCCCCTCCTTCCCTCTCCCTCTCTCCCCCCTCC TTCCCTCTCCCTCTTCCCCCCTCCTTCCCTCTCCCTCACTCCCCCCTCCT TCCCTCTCCCCACACCCCCACACCTTCCCTCCCCACACCCACCCTCCTTC CCTCTCCCTCACTCCCCCCTCCTTCCCTCTCCCTCACTCCCCCCTCCTTC CCTCTCCCTCACTCCCCCCTCCTTCCCACTCCCTCACCACCCCTCCTCCC TCTCCCACTCCCCCCTCCTTCCCTCACTCCCCCTCTCCCCCCTCACCCCC CCCCCTCCCCCCCACCCCCCCTCTCCCTCTCTCCCCCCCACCCCCTCTCC CCCTCTCTCCCACCCCACCCCCCACCCCCCTCTCCCCCCCCTCTCACCCC CCCTCCCCCCTCCCCCACCTCTCTACCCCTCTCCCCCCCCACTCCCCCCT CCCCCCTCCACCCCTCCCCCCTCCCCCTCCCCCCTCCTTCCCTCTCTCTC CCTCTCCCCCTCCTACCCTCTCTCTCCCTCTCCCCCTCCTTCCCTCTCTC ACCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCTCCCCCTCCTTCCCTCTC TCTCTCCCCCCTCCCCTCCCCCTCCTTCCCTCTCTCTCCCCCTCCCCCTC CCCCTCCCCCTCCTTCCCTCTCTCCCCCTCCTTCCCTCACTCTCCCCCTC CCCCTCCTTCTCCTTCCCCTCTCTCTCCCCCTCCCCCTCCTTCTCCTTCC TCTCTCTCTCCCCCTCCCCCTCCCCCTCCTTCTCCTTCCCTCTCTCTCTC CCCCTCCCCCTCCTTCCCTCTCTCTCACCCCCTCCCCCTCCTTCCCTCTC TCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTC CCTCTCTCTCTTCCCCCTCCCCCTCCTTCCCTCTCTCTCCCCCTCCCCCT CCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCC TCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1201): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0098 a0002c0003t0001g0098	1	388	0.0026	1208	c.-38 others(1227): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCCTGCTGCT TCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACC CAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCA CACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCC GGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGG CTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCT CGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCT CTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTG GGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTT CCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGG GTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTC TGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGG GGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCA CATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGG CAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGG ACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCG GCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTG AGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGG TGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTT CCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAG TCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTC TGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTC CCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCA GCCCAGCTCCCCCTTCCCGTCCACATGCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1201): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCC	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0016 a0016	a0016c0035 a0016c0035	a0016c0035t0001 a0016c0035t0001	a0016c0035t0001g0063 a0016c0035t0001g0063	1	388	0.0026	1208	c.-38 others(1227): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCCTG GGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTT CCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGG GTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTC TGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGG GGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCA CATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGG CAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGG ACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCG GCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTG AGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGG TGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTT CCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAG TCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTC TGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTC CCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCA GCCCAGCTCCCCCTTCCCGTCCACATGCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1201): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp2 HG01069.hp2 others(14): Show HG00438.hp1 HG00609.hp2 HG01069.hp2 HG01978.hp1 HG02155.hp1 HG02155.hp2 HG02273.hp1 HG02523.hp2 HG02615.hp1 HG02886.hp2 HG02976.hp2 HG03471.hp2 HG03942.hp1 NA18957.hp2 NA19009.hp2 NA19056.hp2 NA19091.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0008 a0010 a0015	a0001c0002 a0001c0004 a0001c0016 others(7): Show a0001c0002 a0001c0004 a0001c0016 a0001c0017 a0002c0003 a0002c0079 a0004c0005 a0008c0012 a0010c0008 a0015c0021	a0001c0002t0001 a0001c0004t0003 a0001c0016t0001 others(9): Show a0001c0002t0001 a0001c0004t0003 a0001c0016t0001 a0001c0017t0009 a0002c0003t0001 a0002c0003t0022 a0002c0079t0001 a0004c0005t0001 a0004c0005t0019 a0008c0012t0001 a0010c0008t0001 a0015c0021t0001	a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0004t0003g0197 others(14): Show a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0004t0003g0197 a0001c0016t0001g0133 a0001c0017t0009g0263 a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0001g0080 a0002c0003t0001g0081 a0002c0003t0001g0100 a0002c0003t0022g0017 a0002c0079t0001g0018 a0004c0005t0001g0118 a0004c0005t0019g0124 a0008c0012t0001g0078 a0010c0008t0001g0079 a0015c0021t0001g0123	17	388	0.0438	1208	c.-38 others(1227): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGG GGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTC CCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGG TGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCT GGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGG GCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCAC ATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGC AGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGA CAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGG CAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGA GTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGT GCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTC CAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGT CCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCT GCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCC CCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAG CCCAGCTCCCCCTTCCCGTCCACATGCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1201): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02074.hp2 HG02080.hp2 others(1): Show HG01081.hp1 HG02074.hp2 HG02080.hp2 HG02135.hp1	a0008 a0010 a0021 a0008 a0010 a0021	a0008c0076 a0010c0008 a0021c0033 a0008c0076 a0010c0008 a0021c0033	a0008c0076t0001 a0010c0008t0001 a0021c0033t0001 a0008c0076t0001 a0010c0008t0001 a0021c0033t0001	a0008c0076t0001g0090 a0010c0008t0001g0091 a0021c0033t0001g0092 others(1): Show a0008c0076t0001g0090 a0010c0008t0001g0091 a0021c0033t0001g0092 a0021c0033t0001g0093	4	388	0.0103	1208	c.-38 others(1227): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCT TCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACC CAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCA CACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCC GGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGG CTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCT CGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCT CTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTG GGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTT CCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGG GTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTC TGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGG GGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCA CATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGG CAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGG ACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCG GCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTG AGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGG TGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTT CCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAG TCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTC TGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTC CCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCA GCCCAGCTCCCCCTTCCCGTCCACATGCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KIF3B_chr20_32272651_32340011	32322993	C C	CATATTTA others(1201): Show CATATTTATACATATTTATATATACATATTTATATACATTTATATACATA TTTATATATACATTTATATATACATTTATATATACATTTATATATACATA TTTATATATATTTATATATATTTATAGATATATATTTATATATATATTTA TATTTATATATATTTATTTATATTTATATATATTTATATATATTTATTTA TATTTATATTTATATTTATATTTATTTATATTTATATATATTTATATTTA TATATTTATATATATTTATATATATTTATATTTATATATTTATATATTTA TATATATTTATATATATTTATATATATATTTATATATTTATATATATTTA TATATATATTTATATATTTATATATATTTATATATATATTTATATATTTA TATATTTATATTTATATTTATATATTTATATATATTTATATTTATATTTA TATATATTTATATATATTTATATACATATATTTATATATATATTTATATA CATATATTTATATATATATTTATATATATATTTATATATATATTTATATA CATATATTTATATATGTATTTATATATATATTTATATACATATATTTATA TATATTTATATATATTTATATACATATATTTATATATATATTTATATATA TATTTATATACATATATTTATATATATTTATATATATATTTATATATATA TTTATATACATATATTTATATATATTTATATATATATTTATATACATATA TTTATATATATTTATATATATTTATATACATATATTTATATATATATTTA TATACATATATTTATATATATATTTATATACATATATTTATATATATATT TATATATATTTATATACATATATTTATATATATATATTTATATACATATA TTTATATATTTATATATATTTATATATATTCATATTTATATTTATATATA TTTATATATATATTTATATTTATATATATATTTATATTTAATTATATTTA TATATATTTATATATATATTTATATTTGTATATATTTATATATATGTATA TTTATATATATTTATATATTTATATATTTATATTTATATATATCTATATA TTTATATTTATATATATTTATATATTTATATTTATATATATTTATATTTA TATATATTTACATATATTTATATATTTATATTTATATATATTTATATTTA TATATATTT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	242	0.0041	1208	c.174 others(1227): Show c.1749-3774_1749-3773insTTATACATATTTATATATACATATTT ATATACATTTATATACATATTTATATATACATTTATATATACATTTATAT ATACATTTATATATACATATTTATATATATTTATATATATTTATAGATAT ATATTTATATATATATTTATATTTATATATATTTATTTATATTTATATAT ATTTATATATATTTATTTATATTTATATTTATATTTATATTTATTTATAT TTATATATATTTATATTTATATATTTATATATATTTATATATATTTATAT TTATATATTTATATATTTATATATATTTATATATATTTATATATATATTT ATATATTTATATATATTTATATATATATTTATATATTTATATATATTTAT ATATATATTTATATATTTATATATTTATATTTATATTTATATATTTATAT ATATTTATATTTATATTTATATATATTTATATATATTTATATACATATAT TTATATATATATTTATATACATATATTTATATATATATTTATATATATAT TTATATATATATTTATATACATATATTTATATATGTATTTATATATATAT TTATATACATATATTTATATATATTTATATATATTTATATACATATATTT ATATATATATTTATATATATATTTATATACATATATTTATATATATTTAT ATATATATTTATATATATATTTATATACATATATTTATATATATTTATAT ATATATTTATATACATATATTTATATATATTTATATATATTTATATACAT ATATTTATATATATATTTATATACATATATTTATATATATATTTATATAC ATATATTTATATATATATTTATATATATTTATATACATATATTTATATAT ATATATTTATATACATATATTTATATATTTATATATATTTATATATATTC ATATTTATATTTATATATATTTATATATATATTTATATTTATATATATAT TTATATTTAATTATATTTATATATATTTATATATATATTTATATTTGTAT ATATTTATATATATGTATATTTATATATATTTATATATTTATATATTTAT ATTTATATATATCTATATATTTATATTTATATATATTTATATATTTATAT TTATATATATTTATATTTATATATATTTACATATATTTATATATTTATAT TTATATATATTTATATTTATATATATTTATAT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
PKHD1_chr6_51610299_52092613	51982182	A A	AGGTGGGG others(1201): Show AGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGG TGAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCA GCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTC CGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC AGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCG GGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCTGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCCC CCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGC CCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTC CGGGAGGAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0048 a0048	a0048c0023 a0048c0023	a0048c0023t0017 a0048c0023t0017	a0048c0023t0017g0081 a0048c0023t0017g0081	1	134	0.0075	1208	c.575 others(1229): Show c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC ACCTCCCTCCCAGACGGGGCAGCTGGCCAGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTG GCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGG CCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCT GGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGATGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51982182	A A	AGGTGGGG others(1201): Show AGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGG TGAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCA GCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTC CGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCG GGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCTGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCCC CCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGC CCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTC CGGGAGGAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA20300.hp1 HG03453.hp1 NA20300.hp1	a0001 a0043 a0001 a0043	a0001c0061 a0043c0063 a0001c0061 a0043c0063	a0001c0061t0001 a0043c0063t0005 a0001c0061t0001 a0043c0063t0005	a0001c0061t0001g0064 a0043c0063t0005g0066 a0001c0061t0001g0064 a0043c0063t0005g0066	2	134	0.0149	1208	c.575 others(1229): Show c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC ACCTCCCTCCCAGACGGGGCAGCTGGCCAGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTG GCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCT GGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGATGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51982182	A A	AGGTGGGG others(1201): Show AGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGG TGAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCTGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCA GCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTC CGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCG GGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCTGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCCC CCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGC CCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTC CGGGAGGAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	134	0.0075	1208	c.575 others(1229): Show c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC ACCTCCCTCCCAGACGGGGCAGCTGGCCAGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTG GCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCT GGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACTGGGCAGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGATGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51982182	A A	AGGTGGGG others(1201): Show AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGT GAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGCGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAG CCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCC GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGG GAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCCC CCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGC CCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTC CGGGAGGAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0047 a0047	a0047c0051 a0047c0051	a0047c0051t0004 a0047c0051t0004	a0047c0051t0004g0056 a0047c0051t0004g0056	1	134	0.0075	1208	c.575 others(1229): Show c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC ACCTCCCTCCCAGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCT GGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC TGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGGGGGCTGACCCCCCCTCCCCGCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGATGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51982182	A A	AGGTGGGG others(1201): Show AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT GAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTTGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCC CCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCA GCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTC CGGGAGGGAGGTGGCGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCG GGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCCTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCC CCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGC CCGCCTGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTC CGGGAGGAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02015.hp1 NA18989.hp1 others(2): Show HG00423.hp2 HG02015.hp1 NA18989.hp1 NA19007.hp1 NA20129.hp2	a0003 a0004 a0007 others(1): Show a0003 a0004 a0007 a0010	a0003c0012 a0004c0014 a0007c0003 others(2): Show a0003c0012 a0004c0014 a0007c0003 a0010c0026 a0010c0028	a0003c0012t0001 a0004c0014t0004 a0007c0003t0001 others(2): Show a0003c0012t0001 a0004c0014t0004 a0007c0003t0001 a0010c0026t0001 a0010c0028t0001	a0003c0012t0001g0032 a0004c0014t0004g0033 a0007c0003t0001g0011 others(2): Show a0003c0012t0001g0032 a0004c0014t0004g0033 a0007c0003t0001g0011 a0010c0026t0001g0013 a0010c0028t0001g0009	5	134	0.0373	1208	c.575 others(1229): Show c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC ACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGAGGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTG GCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGATCCCGCCACCTCCCTCCCGGACTGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCT GGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCAACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
RPH3AL_chr17_207389_357807	314675	T T	TCTGTGCT others(1201): Show TCTGTGCTCCACCTCCACTGACCTGTAGTCCCTGTGCCCCACCTCCATTG ACCTGCAGTCTCTGTACTCCACGTCCATTGACCTGTAGTCCCTGTGACTT CACCTCCATTGACCTGTAGTCCCTGTGCTCCACCTCCATTGACCTGTAGT CTCTGTGACCCCACCTCCATTGACCTGTAGTCCCTGTACTCCACGTCCAT TGACCTGCAGTCTCTGTGCTCCACCTCCATTGACCTGTAGTCCCTGTGCC CCACCTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATTGACCTGTAG TCCCTGTACTCCACGTCCATTGACCTGTAGTCTCTCTGCTCCACCTCCAT TGACCTGTAGTCCCTGTGACTCCACCTCCATTGACCTGTAGTCTCTGTGC TCCACCTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATTGACCTGTA GTCTCTGTGACCCCACCTCCATTGACCTGTAGTCCCTGTACTCCACGTCC ATTGACCTGTAGTCTCTGTGCCCCACCTCCATTGACCTGTAGTCCCTGTG CCCCACCTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATTGACCAGT AGTCCCTGTGCCCCACCTCCATTGACCTGTAGTCTCTGTGCTCCACCTCC ATTGACCTGTAGTCCCTGTGCCCCACCTCCATTGACCTGCAGTCTCTGTA CTCCATGTCCATTGACCTGTAGTCCCTGTGACTCCACCTCCATTGAACTG TAGTCCCTGTGCCCCACCTCCATTGACCTGTAGTCCCTGTGACTCCACTT CCATTGACCTGTAGTCTCTGTGCTCCACCTCCACTGACCTGTAGTCCCTG TGCCCCACCTCCATTGACCTGCAGTCTCTGTACTCCACGTCCATTGACCT GTAGTCCCTGTGACTTCACCTCCATTGACCTGTAGTCCCTGTGCTCCACC TCCATTGACCTGTAGTCTCTGTGACCCCACCTCCATTGGCCTGTAGTCCC TGTACTCCACGTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATTGAC CTGTAGTCCCTGTGCCCCACCTCCATTGACCTGTAGTCCCTGTGCCCCAC CTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATTGACCTGTAGTCCC TGTACTCCACGTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATTGAC CTGTAGTCC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0098	1	133	0.0075	1208	c.351 others(1225): Show c.351+4744_351+4745insGGACTACAGGTCAATGGAGGTGGAGCAC AGAGACTACAGGTCAATGGACGTGGAGTACAGGGACTACAGGTCAATGGA GGTGGAGCACAGAGACTACAGGTCAATGGAGGTGGGGCACAGGGACTACA GGTCAATGGAGGTGGGGCACAGGGACTACAGGTCAATGGAGGTGGAGCAC AGAGACTACAGGTCAATGGACGTGGAGTACAGGGACTACAGGCCAATGGA GGTGGGGTCACAGAGACTACAGGTCAATGGAGGTGGAGCACAGGGACTAC AGGTCAATGGAGGTGAAGTCACAGGGACTACAGGTCAATGGACGTGGAGT ACAGAGACTGCAGGTCAATGGAGGTGGGGCACAGGGACTACAGGTCAGTG GAGGTGGAGCACAGAGACTACAGGTCAATGGAAGTGGAGTCACAGGGACT ACAGGTCAATGGAGGTGGGGCACAGGGACTACAGTTCAATGGAGGTGGAG TCACAGGGACTACAGGTCAATGGACATGGAGTACAGAGACTGCAGGTCAA TGGAGGTGGGGCACAGGGACTACAGGTCAATGGAGGTGGAGCACAGAGAC TACAGGTCAATGGAGGTGGGGCACAGGGACTACTGGTCAATGGAGGTGGA GCACAGAGACTACAGGTCAATGGAGGTGGGGCACAGGGACTACAGGTCAA TGGAGGTGGGGCACAGAGACTACAGGTCAATGGACGTGGAGTACAGGGAC TACAGGTCAATGGAGGTGGGGTCACAGAGACTACAGGTCAATGGAGGTGG AGCACAGAGACTACAGGTCAATGGAGGTGGAGCACAGAGACTACAGGTCA ATGGAGGTGGAGTCACAGGGACTACAGGTCAATGGAGGTGGAGCAGAGAG ACTACAGGTCAATGGACGTGGAGTACAGGGACTACAGGTCAATGGAGGTG GAGCACAGAGACTACAGGTCAATGGAGGTGGGGCACAGGGACTACAGGTC AATGGAGGTGGAGCACAGAGACTGCAGGTCAATGGACGTGGAGTACAGGG ACTACAGGTCAATGGAGGTGGGGTCACAGAGACTACAGGTCAATGGAGGT GGAGCACAGGGACTACAGGTCAATGGAGGTGAAGTCACAGGGACTACAGG TCAATGGACGTGGAGTACAGAGACTGCAGGTCAATGGAGGTGGGGCACAG GGACTACAGGTCAGTGGAGGTGGAGCACAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	314723	C C	CTGACCTG others(1201): Show CTGACCTGTAGTCCCTGTGCCCACCTCCATTGACCTGCAGTCTCTGTACT CCACGTCCATTGACCTGTAGTCCCTGTGACTTCACCTCCATTGACCTGTA GTCCCTGTGCTCCACCTCCATTGACCTGTAGTCTCTGTGACCCCACCTCC ATTGACCTGTAGTCCCTGTACTCCACGTCCATTGACCTGCAGTCTCTGTG CTCCACCTCCATTGACCTGTAGTCCCTGTGCCCCACCTCCATTGACCTGT AGTCTCTGTGCTCCACCTCCATTGACCTGTAGTCCCTGTACTCCACGTCC ATTGACCTGTAGTCTCTCTGCTCCACCTCCATTGACCTGTAGTCCCTGTG ACTCCACCTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATTGACCTG TAGTCTCTGTGCTCCACCTCCATTGACCTGTAGTCTCTGTGACCCCACCT CCATTGACCTGTAGTCCCTGTACTCCACGTCCATTGACCTGTACTCTCTG TGCCCCACCTCCATTGACCTGTAGTCCCTGTGCCCCACCTCCATTGACCT GTAGTCTCTGTGCTCCACCTCCATTGACCAGTAGTCCCTGTGCCCCACCT CCATTGACCTGTAGTCTCTGTGCTCCACCTCCATTGACCTGTAGTCCCTG TGCCCCACCTCCATTGACCTGCAGTCTCTGTACTCCATGTCCATTGACCT GTAGTCCCTGTGACTCCACCTCCATTGAACTGTAGTCCCTGTGCCCCACC TCCATTGACCTGTAGTCCCTGTGACTCCACCTCCATTGACCTGTAGTCTC TGTGCTCCACCTCCACTGACCTGTAGTCCCTGTGCCCCACCTCCATTGAC CTGCAGTCTCTGTACTCCACGTCCATTGACCTGTAGTCCCTGTGACTTCA CCTCCATTGACCTGTAGTCCCTGTGCTCCACCTCCATTGACCTGTAGTCT CTGTGACCCCACCTCCATTGGCCTGTAGTCCCTGTACTCCACGTCCATTG ACCTGTAGTCTCTGTGCTCCACCTCCATTGACCTGTAGTCCCTGTGCCCC ACCTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATTGACCTGTAGTC CCTGTACTCCACGTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATTG ACCTGTAGTCCCTGCGACTCCACCTCCATTGACCTGTAGTCTCTGTGCTC CACCTCCAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0094 a0001c0001t0009g0094	1	133	0.0075	1208	c.351 others(1225): Show c.351+4696_351+4697insATGGAGGTGGAGCACAGAGACTACAGGT CAATGGAGGTGGAGTCGCAGGGACTACAGGTCAATGGAGGTGGAGCACAG AGACTACAGGTCAATGGACGTGGAGTACAGGGACTACAGGTCAATGGAGG TGGAGCACAGAGACTACAGGTCAATGGAGGTGGGGCACAGGGACTACAGG TCAATGGAGGTGGAGCACAGAGACTACAGGTCAATGGACGTGGAGTACAG GGACTACAGGCCAATGGAGGTGGGGTCACAGAGACTACAGGTCAATGGAG GTGGAGCACAGGGACTACAGGTCAATGGAGGTGAAGTCACAGGGACTACA GGTCAATGGACGTGGAGTACAGAGACTGCAGGTCAATGGAGGTGGGGCAC AGGGACTACAGGTCAGTGGAGGTGGAGCACAGAGACTACAGGTCAATGGA GGTGGAGTCACAGGGACTACAGGTCAATGGAGGTGGGGCACAGGGACTAC AGTTCAATGGAGGTGGAGTCACAGGGACTACAGGTCAATGGACATGGAGT ACAGAGACTGCAGGTCAATGGAGGTGGGGCACAGGGACTACAGGTCAATG GAGGTGGAGCACAGAGACTACAGGTCAATGGAGGTGGGGCACAGGGACTA CTGGTCAATGGAGGTGGAGCACAGAGACTACAGGTCAATGGAGGTGGGGC ACAGGGACTACAGGTCAATGGAGGTGGGGCACAGAGAGTACAGGTCAATG GACGTGGAGTACAGGGACTACAGGTCAATGGAGGTGGGGTCACAGAGACT ACAGGTCAATGGAGGTGGAGCACAGAGACTACAGGTCAATGGAGGTGGAG CACAGAGACTACAGGTCAATGGAGGTGGAGTCACAGGGACTACAGGTCAA TGGAGGTGGAGCAGAGAGACTACAGGTCAATGGACGTGGAGTACAGGGAC TACAGGTCAATGGAGGTGGAGCACAGAGACTACAGGTCAATGGAGGTGGG GCACAGGGACTACAGGTCAATGGAGGTGGAGCACAGAGACTGCAGGTCAA TGGACGTGGAGTACAGGGACTACAGGTCAATGGAGGTGGGGTCACAGAGA CTACAGGTCAATGGAGGTGGAGCACAGGGACTACAGGTCAATGGAGGTGA AGTCACAGGGACTACAGGTCAATGGACGTGGAGTACAGAGACTGCAGGTC AATGGAGGTGGGCACAGGGACTACAGGTCA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	314723	C C	CTGACCTG others(1201): Show CTGACCTGTAGTCCCTGTGCCCCACCTCCATTGACCTGCAGTCTCTGTAC TCCACGTCCATTGACCTGTAGTCCCTGTGACTTCACCTCCATTGACCTGT AGTCCCTGTGCTCCACCTCCATTGACCTGTAGTCTCTGTGACCCCACCTC CATTGACCTGTAGTCCCTGTACTCCACGTCCATTGACCTGCAGTCTCTGT GCTCCACCTCCATTGACCTGTAGTCCCTGTGCCCCACCTCCATTGACCTG TAGTCTCTGTGCTCCACCTCCATTGACCTGTAGTCCCTGTACTCCACGTC CATTGACCTGTAGTCTCTCTGCTCCACCTCCATTGACCTGTAGTCCCTGT GACTCCACCTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATTGACCT GTAGTCTCTGTGCTCCACCTCCATTGACCTGTAGTCTCTGTGACCCCACC TCCATTGACCTGTAGTCCCTGTACTCCACGTCCATTGACCTGTACTCTCT GTGCCCCACCTCCATTGACCTGTAGTCCCTGTGCCCCACCTCCATTGACC TGTAGTCTCTGTGCTCCACCTCCATTGACCAGTAGTCCCTGTGCCCCACC TCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATTGACCTGTAGTCCCT GTGCCCCACCTCCATTGACCTGCAGTCTCTGTACTCCATGTCCATTGACC TGTAGTCCCTGTGACTCCACCTCCATTGAACTGTAGTCCCTGTGCCCCAC CTCCATTGACCTGTAGTCCCTGTGACTCCACCTCCATTGACCTGTAGTCT CTGTGCTCCACCTCCACTGACCTGTAGTCCCTGTGCCCCACCTCCATTGA CCTGCAGTCTCTGTACTCCACGTCCATTGACCTGTAGTCCCTGTGACTTC ACCTCCATTGACCTGTAGTCCCTGTGCTCCACCTCCATTGACCTGTAGTC TCTGTGACCCCACCTCCATTGGCCTGTAGTCCCTGTACTCCACGTCCATT GACCTGTAGTCTCTGTGCTCCACCTCCATTGACCTGTAGTCCCTGTGCCC CACCTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATTGACCTGTAGT CCTGTACTCCACGTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATTG ACCTGTAGTCCCTGCGACTCCACCTCCATTGACCTGTAGTCTCTGTGCTC CACCTCCAT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0039 a0001c0001t0004g0039	1	133	0.0075	1208	c.351 others(1225): Show c.351+4696_351+4697insATGGAGGTGGAGCACAGAGACTACAGGT CAATGGAGGTGGAGTCGCAGGGACTACAGGTCAATGGAGGTGGAGCACAG AGACTACAGGTCAATGGACGTGGAGTACAGGACTACAGGTCAATGGAGGT GGAGCACAGAGACTACAGGTCAATGGAGGTGGGGCACAGGGACTACAGGT CAATGGAGGTGGAGCACAGAGACTACAGGTCAATGGACGTGGAGTACAGG GACTACAGGCCAATGGAGGTGGGGTCACAGAGACTACAGGTCAATGGAGG TGGAGCACAGGGACTACAGGTCAATGGAGGTGAAGTCACAGGGACTACAG GTCAATGGACGTGGAGTACAGAGACTGCAGGTCAATGGAGGTGGGGCACA GGGACTACAGGTCAGTGGAGGTGGAGCACAGAGACTACAGGTCAATGGAG GTGGAGTCACAGGGACTACAGGTCAATGGAGGTGGGGCACAGGGACTACA GTTCAATGGAGGTGGAGTCACAGGGACTACAGGTCAATGGACATGGAGTA CAGAGACTGCAGGTCAATGGAGGTGGGGCACAGGGACTACAGGTCAATGG AGGTGGAGCACAGAGACTACAGGTCAATGGAGGTGGGGCACAGGGACTAC TGGTCAATGGAGGTGGAGCACAGAGACTACAGGTCAATGGAGGTGGGGCA CAGGGACTACAGGTCAATGGAGGTGGGGCACAGAGAGTACAGGTCAATGG ACGTGGAGTACAGGGACTACAGGTCAATGGAGGTGGGGTCACAGAGACTA CAGGTCAATGGAGGTGGAGCACAGAGACTACAGGTCAATGGAGGTGGAGC ACAGAGACTACAGGTCAATGGAGGTGGAGTCACAGGGACTACAGGTCAAT GGAGGTGGAGCAGAGAGACTACAGGTCAATGGACGTGGAGTACAGGGACT ACAGGTCAATGGAGGTGGAGCACAGAGACTACAGGTCAATGGAGGTGGGG CACAGGGACTACAGGTCAATGGAGGTGGAGCACAGAGACTGCAGGTCAAT GGACGTGGAGTACAGGGACTACAGGTCAATGGAGGTGGGGTCACAGAGAC TACAGGTCAATGGAGGTGGAGCACAGGGACTACAGGTCAATGGAGGTGAA GTCACAGGGACTACAGGTCAATGGACGTGGAGTACAGAGACTGCAGGTCA ATGGAGGTGGGGCACAGGGACTACAGGTCA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar

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Search Results (Total: 10000 hits)