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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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
WDR81_chr17_1719704_1743585	1739135	A A	AGCCTGAT others(801): Show AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGAACAGGACAGTGAGGCTGGGAAGGAGCCTGATGCAGGGAGTGAG GCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCA GGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACA GTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAG GCTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGG GAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGAACAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGC AGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGATTCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGA GCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGG ACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGT GAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGG TGGGAGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0002 a0003c0004t0003g0002	1	431	0.0023	808	c.14 others(819): Show c.1450_*1451insGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGG GAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGAACAGGACAGTGAGGCTGGGAAGGAGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAG GAGCAGGACAGTGAGGCTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCA GGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACA GTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAACAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGG GAAGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGG CCTGATTCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGA TGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAG GGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGT GAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGC GCAGGACAGTGAGGGTGGGAGGCG	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		551		chr17	TogoVar
YBEY_chr21_46281342_46302751	46294693	G G	GTCAGCCA others(801): Show GTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGA CAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCA GCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGC CACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTC CTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCTGGAGTCAGCCACGCA AGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCG GGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCC CGCGGTTAGCCTGACCCATGCCCGGGACTCTGGAGTCGGCCACGCAAGTT AGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGAC TCGGTGGAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0243 a0001c0001t0003g0243	1	404	0.0025	808	c.340 others(825): Show c.340-1461_340-1460insACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAA GTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTA AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCTGGAGTCAGCCACGCAAGTTAGACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCTGG AGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAG ATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCTGGAGTC GGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCATGCCCGGGACTCGGTGGAATCAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(801): Show CCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCCTCCCCTCCC CTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCC CCCCTCCCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTC CTCCTCCCTCCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCC CCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTC CTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCT CCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCC CCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCCTCCCT CCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTTCCCTCCTTCCTCCCC TCCCCCTCCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCC CGTCCCCTCCTCCTCCCCCTCCCCTCCCCCTCCCCCTCCTCCCTCCCCCT CCCCTCCTCCCTCCCCTCCCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCCCCATCCCCCTCCT CCCCTCTCCCCTCCCCTCCCCTTCCCTTCCCCTCTCCTCCCCTCCTCCCT CCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTACTCCCG TCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTCTCCCCT TCCCCCTCA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0185 a0001c0002t0003g0185	1	322	0.0031	808	c.4-1 others(821): Show c.4-1376_4-1375insCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCC CCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCT CCCCTCCTTCCCCCCTCCCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCC TTCTTCCTCTCCTCCTCCCTCCCCCCCCTCCCCTTCCCTCCTCCCTCCCC CCTCCCCTCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCC TCCCCTTCCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCT CCCTCCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCC CTTCCTCCTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCT CCCCCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTTCCCT CCTTCCTCCCCTCCCCCTCCCCTACCCTCCTCCCTCCCCTTCCCTCCTCC CTCCCCCTCCCCGTCCCCTCCTCCTCCCCCTCCCCTCCCCCTCCCCCTCC TCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCCCCTCCCCCTCCCC TCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCCCC ATCCCCCTCCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCCCCTCTCCTC CCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCC CTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTC CCCTCTCCCCTTCCCCCTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGAP39_chr8_144524179_144690846	144687156	C C	CCCCGTGA others(802): Show CCCCGTGACCACTCATTTACAGCGAGCACTTCTCACCCCCGTGACCACAC ACTGGCGGCGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCA CTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGA CCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGT GAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCC CCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACT GGCGGTGAGCACTTCCCACCCCCGTGACCACACACTAGCGGTGAGCACTT CCCACCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCGTGACCA CACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAG CACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGT GACCACACATTTACAGTGAGCACTTCCCACCCCGTGACCACACACTGGCG GTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCAC CCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACAC TGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTAGCGGTGAGCACT TCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACC ACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGA GCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0180 a0001c0001t0015g0180	1	246	0.0041	809	c.-15 others(820): Show c.-1553_-1552insTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGG GTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTC ACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGT GCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGT GTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGG GAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCACCGCC AGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGG GGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCG CTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGT CACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAG TGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGT GTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGT GGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCG CTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCAC GGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGAGAAGTG CTCGCTGTAAATGAGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1311		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687461	G G	GGTGAGCA others(802): Show GGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCA CCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGACCACAC ACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCAC TTCCCACCCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGA CCACTCATTTACAGCGAGCACTTCCCACCCCGTGACCACACACTAGCGGT GAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCC CGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACATTT ACAGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCC CACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACA CACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCA CTTCCCACCCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTG ACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGG TGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACC CCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACATT TACAGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTC CCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCA CACATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG06807.hp1 HG01361.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0176 a0001c0001t0001g0179	2	246	0.0081	809	c.-18 others(820): Show c.-1858_-1857insTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGG TCACGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAG TGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTG TGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTG GGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGC TAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCAC GGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCT CACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTG GTCACGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAA GTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGT GTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGT GGGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCG CTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCA CGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTG CTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTG TGGTCACGGGGTGGGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1616		chr8	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCC others(802): Show TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAG AGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGC CCTGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC GGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCC CCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCC AGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0010 a0001c0003t0001g0010	1	391	0.0026	809	c.36 others(820): Show c.3604_*3605insGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGT GCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCT CCTGGCAGAGCCAGCCCTGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCA GAGCCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCAC CCCGCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835488	A A	AGCCCCCA others(802): Show AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCA GCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG GCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0058 a0002c0005t0001g0058	1	391	0.0026	809	c.36 others(820): Show c.3611_*3612insGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCT CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3471		chr19	TogoVar
B3GNTL1_chr17_82937149_83056770	82971659	A A	ACAGGGGC others(802): Show ACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCCAG AAGGACCTGGTACTGACCACACCACACTCATAGGGGCCAGAAGGACCCGG TACTGACCACACCACACCACAGGGGCCAGAAGGACCCGGTACTGACCACA CCACACCACAGGGGCCAGAAGGACCCGGTACTGACCACACCACACCACAG GGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCCAGAAGG ACCTGGTACTGACCACACCACACTCATAGGGGCCAGAAGGACCCGGTACT GACCACACCACACCACAGGGGCCAGAAGGACCCGGTACTGACCACACCAC ACCACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGC CAGAAGGACCTGGTACTGACCACACCACACTCATAGGGGCCAGAAGGACC CGGTACTGACCACACCACACCACAGGGGCCAGAAGGACCCGGTACTGACC ACACCACACCACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCA CAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCTAGA AGGACCTGGTGCCGACCACACCACACCATGGGCCAGAAGGACCTGGTGCC GACCACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACACACCACA CCAGGGGCTAGAAGGACCTGGTGCCGACACACCACACCAGGGGCCAGAAG GACCTGGTGCCGACCACACCACACCACGGGCCAGAAGGACCTGGAGCCGA CACACCACAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01346.hp2 HG00735.hp1 HG01346.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0021 a0001c0004t0001g0026 a0001c0004t0001g0021 a0001c0004t0001g0026	2	266	0.0075	809	c.460 others(826): Show c.460-5914_460-5913insGTGTGGTGTGTCGGCTCCAGGTCCTTCT GGCCCGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGGTGTG GTGTGTCGGCACCAGGTCCTTCTAGCCCCTGGTGTGGTGTGTCGGCACCA GGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGG CCCATGGTGTGGTGTGGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTG GTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGT ACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCGGGTCCTT CTGGCCCCTGTGGTGTGGTGTGGTCAGTACCGGGTCCTTCTGGCCCCTAT GAGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGT GGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCG GGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCGGGTCCTTCTGG CCCCTATGAGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGT GTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTC AGTACCGGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCGGGTC CTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCGGGTCCTTCTGGCCCC TATGAGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGG TGTGGTCAGTACCAGGTCCTTCTGGCCCCTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82971701	G G	GGGGCCAG others(802): Show GGGGCCAGAAGGACCCGGTACTGACCACACCACACCACAGGGGCCAGAAG GACCTGGTACTGACCACACCACACCACAGGGGCCAGAAGGACCTGGTACT GACCACACCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCACACCAC ACCACAGGGGCCACAAGGACCTGGTGCCGACCACACCACACCACAGGGGC CAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCCAGAAGGACCT GGTGCCGACCACACCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCA CACCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCACACCACACCAC AGGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCTAGAA GGACCTGGTGCCGACACACCACACCACAGGGGCCAGAAGGACCTGGTGCC GACCACACCACACCATGGGCCAGAAGGACCTGGAGCCGACACACCACACC AGGGGCCAGAAGGACCTGGTGCCCACCACACCACACCACAGGGGCCAGAA GGACCTGGTACTGACCACACCACACCACAGGGGCTAGAAGGACCTGGTGC CGACCACACCACACCATGGGCCAGAAGGACCTGGTGCCGACCACACCACA CCACAGGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCC AGAAGGACCTGGTACTGACCACACCACACCACAGGGGCCAGAAGGACCTG GTGCCGGCCACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACCAC ACCACACCAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp2 HG02976.hp2 others(1): Show HG01891.hp1 HG02559.hp2 HG02976.hp2 NA18973.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0016 a0002c0005 a0003c0021 a0001c0016 a0002c0005 a0003c0021	a0001c0016t0001 a0002c0005t0003 a0002c0005t0007 others(1): Show a0001c0016t0001 a0002c0005t0003 a0002c0005t0007 a0003c0021t0035	a0001c0016t0001g0009 a0002c0005t0003g0055 a0002c0005t0007g0261 others(1): Show a0001c0016t0001g0009 a0002c0005t0003g0055 a0002c0005t0007g0261 a0003c0021t0035g0187	4	266	0.0150	809	c.460 others(826): Show c.460-5956_460-5955insGTGGTGTGGTGTGGTCGGCACCAGGTCC TTCTAGCCCCTGTGGTGTGGTGTGGCCGGCACCAGGTCCTTCTGGCCCCT GTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTG TGGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCGGCACC AGGTCCTTCTGGCCCATGGTGTGGTGTGGTCGGCACCAGGTCCTTCTAGC CCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGT GGTGTGGTGGGCACCAGGTCCTTCTGGCCCCTGGTGTGGTGTGTCGGCTC CAGGTCCTTCTGGCCCATGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGG CCCCTGTGGTGTGGTGTGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGT GGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCGG CACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCT TCTGGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTG TGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGT GGTCGGCACCAGGTCCTTGTGGCCCCTGTGGTGTGGTGTGGTCGGCACCA GGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGG CCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTG TGGTGTGGTCAGTACCGGGTCCTTCTGGCCC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82971701	G G	GGGGCCAG others(802): Show GGGGCCAGAAGGACCCGGTGCCGACCACACCACACCACAGGGGCCAGAAG GACCTGGTACTGACCACACCACACCACAGGGGCCAGAAGGACCTGGTACT GACCACACCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCACACCAC ACCACAGGGGCCACAAGGACCTGGTGCCGACCACACCACACCACAGGGGC CAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCCAGAAGGACCT GGTGCCGACCACACCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCA CACCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCACACCACACCAC AGGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCTAGAA GGACCTGGTGCCGACACACCACACCACAGGGGCCAGAAGGACCTGGTGCC GACCACACCACACCATGGGCCAGAAGGACCTGGAGCCGACACACCACACC AGGGGCCAGAAGGACCTGGTGCCCACCACACCACACCACAGGGGCCAGAA GGACCTGGTACTGACCACACCACACCACAGGGGCTAGAAGGACCTGGTGC CGACCACACCACACCATGGGCCAGAAGGACCTGGTGCCGACCACACCACA CCACAGGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCC AGAAGGACCTGGTACTGACCACACCACACCACAGGGGCCAGAAGGACCTG GTGCCGGCCACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACCAC ACCACACCAC	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0005 a0005	a0005c0026 a0005c0026	a0005c0026t0006 a0005c0026t0006	a0005c0026t0006g0176 a0005c0026t0006g0176	1	266	0.0038	809	c.460 others(826): Show c.460-5956_460-5955insGTGGTGTGGTGTGGTCGGCACCAGGTCC TTCTAGCCCCTGTGGTGTGGTGTGGCCGGCACCAGGTCCTTCTGGCCCCT GTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTG TGGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCGGCACC AGGTCCTTCTGGCCCATGGTGTGGTGTGGTCGGCACCAGGTCCTTCTAGC CCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGT GGTGTGGTGGGCACCAGGTCCTTCTGGCCCCTGGTGTGGTGTGTCGGCTC CAGGTCCTTCTGGCCCATGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGG CCCCTGTGGTGTGGTGTGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGT GGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCGG CACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCT TCTGGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTG TGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGT GGTCGGCACCAGGTCCTTGTGGCCCCTGTGGTGTGGTGTGGTCGGCACCA GGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGG CCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTG TGGTGTGGTCGGCACCGGGTCCTTCTGGCCC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82971701	G G	GGGGCCAG others(802): Show GGGGCCAGAAGGACCCGGTGCCGGCCACACCACACCACAGGGGCCAGAAG GACCCGGTACTGACCACACCACACCACAGGGGCCAGAAGGACCTGGTACT GACCACACCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCACACCAC ACCACAGGGGCCACAAGGACCTGGTGCCGACCACACCACACCACAGGGGC CAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCCAGAAGGACCT GGTGCCGACCACACCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCA CACCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCACACCACACCAC AGGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCTAGAA GGACCTGGTGCCGACACACCACACCACAGGGGCCAGAAGGACCTGGTGCC GACCACACCACACCATGGGCCAGAAGGACCTGGAGCCGACACACCACACC AGGGGCCAGAAGGACCTGGTGCCCACCACACCACACCACAGGGGCCAGAA GGACCTGGTACTGACCACACCACACCACAGGGGCTAGAAGGACCTGGTGC CGACCACACCACACCATGGGCCAGAAGGACCTGGTGCCGACCACACCACA CCACAGGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCC AGAAGGACCTGGTACTGACCACACCACACCACAGGGGCCAGAAGGACCTG GTGCCGGCCACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACCAC ACCACACCAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	266	0.0038	809	c.460 others(826): Show c.460-5956_460-5955insGTGGTGTGGTGTGGTCGGCACCAGGTCC TTCTAGCCCCTGTGGTGTGGTGTGGCCGGCACCAGGTCCTTCTGGCCCCT GTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTG TGGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCGGCACC AGGTCCTTCTGGCCCATGGTGTGGTGTGGTCGGCACCAGGTCCTTCTAGC CCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGT GGTGTGGTGGGCACCAGGTCCTTCTGGCCCCTGGTGTGGTGTGTCGGCTC CAGGTCCTTCTGGCCCATGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGG CCCCTGTGGTGTGGTGTGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGT GGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCGG CACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCT TCTGGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTG TGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGT GGTCGGCACCAGGTCCTTGTGGCCCCTGTGGTGTGGTGTGGTCGGCACCA GGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGG CCCCTGTGGTGTGGTGTGGTCAGTACCGGGTCCTTCTGGCCCCTGTGGTG TGGTGTGGCCGGCACCGGGTCCTTCTGGCCC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82971719	T T	TACTGACC others(802): Show TACTGACCACACCACACCACAGGGGCCAGAAGGACCTGGTACTGACCACA CCACACCACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAG GGGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCCACAAGG ACCTGGTGCCGACCACACCACACCACAGGGGCCAGAAGGACCTGGTGCCG ACCACACCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCACACCACA CCACAGGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCC AGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCCAGAAGGACCTG GTGCCGACCACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACACA CCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCACACCACACCATGG GCCAGAAGGACCTGGAGCCGACACACCACACCAGGGGCCAGAAGGACCTG GTGCCCACCACACCACACCACAGGGGCCAGAAGGACCTGGTACTGACCAC ACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACCACACCACACCATG GGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCCAGAAGGA CCTGGTGCCGACCACACCACACCACAGGGGCCAGAAGGACCTGGTACTGA CCACACCACACCACAGGGGCCAGAAGGACCTGGTGCCGGCCACACCACAC CACAGGGGCTAGAAGGACCTGGTGCCGACCACACCACACCACGGGCCAGA AGGACCTGGA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG04115.hp2 NA18612.hp2 others(2): Show HG03492.hp1 HG04115.hp2 NA18612.hp2 NA18963.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0020 others(1): Show a0001c0001 a0001c0006 a0001c0020 a0002c0010	a0001c0001t0006 a0001c0006t0002 a0001c0020t0005 others(1): Show a0001c0001t0006 a0001c0006t0002 a0001c0020t0005 a0002c0010t0007	a0001c0001t0006g0182 a0001c0006t0002g0007 a0001c0020t0005g0218 others(2): Show a0001c0001t0006g0182 a0001c0006t0002g0007 a0001c0020t0005g0218 a0002c0010t0007g0206 a0002c0010t0007g0207	5	266	0.0188	809	c.460 others(826): Show c.460-5974_460-5973insTCCAGGTCCTTCTGGCCCGTGGTGTGGT GTGGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGCCGGCAC CAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCT GGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGTGG TGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCATGGTGTGGTGTGGTCG GCACCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCC TTCTGGCCCCTGTGGTGTGGTGTGGTGGGCACCAGGTCCTTCTGGCCCCT GGTGTGGTGTGTCGGCTCCAGGTCCTTCTGGCCCATGGTGTGGTGTGGTC GGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGTCGGCACCAGGTCC TTCTAGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCT GTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTG TGGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCGGCACC AGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTG GCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTGTGGCCCCTGTGGT GTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTC AGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTC CTTCTGGCCCCTGTGGTGTGGTGTGGTCAGT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGAGGG others(802): Show AGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGG AGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAC GGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGG AGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAG GGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGG AGGGCGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGCGGGAC GGAGGGAGGGAGGGAGGGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGG AGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGG GACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGC GGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAGGGATGGAGGG AGGGAGGGCGGGACGGAGGGAGGGCGGGAGGGAGGGACGGAGGGCGGGAC GGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGG AGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGAC GGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGG CGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAGGGCGGGACG GAGGGAGGGC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0220 a0001c0005t0001g0220	1	410	0.0024	809	c.465 others(824): Show c.465+102_465+103insGCCCTCCCTCCGTCCCGCCCTCCCGCCCTC CCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCG CCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCTCCGTCCCTCCCTCC CTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCT CCGTCCCTCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCGTCCCTCC CTCCCGCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCATCCCTCCCGCCCT CCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCC GCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCC CTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGT CCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCC CTCCGTCCCGCCCTCCCTCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGT CCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCC CTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCT CCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCC GTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCG CCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCC CTCCCTCCCTCCGTCCCGCCCTCCCTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C4orf50_chr4_5954375_6023431	6004599	A A	ATGATGGT others(802): Show ATGATGGTGACGGTGATGATGTGATGGTGATGATGGTGATGATGGTGATG GTGATGATGGTGATGATGTTGATGATGGTGATGATGGTGATGATGGTGAT GGTGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGG TGATGATGTGATGGTGATGATGATGGTGATGGTGATGATGGTGATGGTGA TGATGGTGATGGTGGTGATGATGATGGTGATGTGATGGTAATGGTGATGA TGGTGATGGTGATGATGATGTGGTGGTGATGGTGATGCTGATGATGGTGA TGATGGTGATGGTGATGATAGTGATGATGGTGATGATGGTGATGGTGATG ATGGTGATGGTGATGATGGTGATGATATTGATGGTGATGATATTGATGGT GATGATGGTGATGGTGATGATGTGATGGTGATGATGGTGATGATGGTGAT AGTTATGATGGTGATGGTGATGATGTTGATGATGGTGATGATGGTGATGA TGGTGATGGTGATGATGTGATGGTGATGATAGTGATGATGGTGATGATGG TGATGGTGATGATGGTGATGGTGATGGTGATGGTGATGATGGTGATGATG GTGATGGTGATGATGGTGATGGTGATGATGGTGATGATGGTGATGATGGT GATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGACGG TGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGAGATGGAG ATGTTGGTGATGATGGTGATGGTGGTGATGATGTGATGGTAATGGTGATG ATGGTGATGG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02080.hp1 HG02132.hp2 others(13): Show HG01358.hp2 HG02080.hp1 HG02132.hp2 HG02155.hp1 NA18945.hp2 NA18947.hp1 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18989.hp2 NA19007.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19066.hp2 NA19091.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0022	a0001c0001 a0002c0002 a0005c0005 others(2): Show a0001c0001 a0002c0002 a0005c0005 a0006c0007 a0022c0022	a0001c0001t0000 a0002c0002t0000 a0005c0005t0000 others(2): Show a0001c0001t0000 a0002c0002t0000 a0005c0005t0000 a0006c0007t0000 a0022c0022t0000	a0001c0001t0000g0097 a0001c0001t0000g0099 a0001c0001t0000g0100 others(13): Show a0001c0001t0000g0097 a0001c0001t0000g0099 a0001c0001t0000g0100 a0001c0001t0000g0101 a0001c0001t0000g0102 a0001c0001t0000g0104 a0001c0001t0000g0105 a0001c0001t0000g0106 a0001c0001t0000g0141 a0001c0001t0000g0203 a0001c0001t0000g0282 a0002c0002t0000g0103 a0005c0005t0000g0098 a0005c0005t0000g0107 a0006c0007t0000g0171 a0022c0022t0000g0038	16	346	0.0462	809	c.963 others(826): Show c.963+3396_963+3397insCCATCACCATCATCACCATTACCATCAC ATCATCACCACCATCACCATCATCACCAACATCTCCATCTCCATCACCAT CACCATCATCACCATCACCATCATCACCATCACCGTCATCATCACCATCA CCATCATCACCATCACCATCATCACCATCATCACCATCATCACCATCATC ACCATCATCACCATCACCATCATCACCATCACCATCATCACCATCATCAC CATCACCATCACCATCACCATCATCACCATCACCATCATCACCATCATCA CTATCATCACCATCACATCATCACCATCACCATCATCACCATCATCACCA TCATCAACATCATCACCATCACCATCATAACTATCACCATCATCACCATC ATCACCATCACATCATCACCATCACCATCATCACCATCAATATCATCACC ATCAATATCATCACCATCATCACCATCACCATCATCACCATCACCATCAT CACCATCATCACTATCATCACCATCACCATCATCACCATCATCAGCATCA CCATCACCACCACATCATCATCACCATCACCATCATCACCATTACCATCA CATCACCATCATCATCACCACCATCACCATCATCACCATCACCATCATCA CCATCACCATCATCATCACCATCACATCATCACCATCACCATCATCACCA TCACCATCATCACCATCATCACTATCATCACCATCACCATCATCACCATC ATCACCATCATCAACATCATCACCATCATCACCATCACCATCATCACCAT CATCACCATCACATCATCACCGTCACCATCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
CCDC183_chr9_136791338_136812741	136803282	T T	TGGGGCCC others(802): Show TGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCC CCAGGGCGGGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCG	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	398	0.0025	809	c.666 others(824): Show c.666+511_666+512insCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGG CCCCCCAGGGCGGGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCCGGGGGCCCCCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(802): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTC CTTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGC ACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCC TTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCA CACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCC CTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCC CTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACAC TGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCC CCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGC CCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCC TCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0033 a0002c0003t0002g0033	1	252	0.0040	809	c.-29 others(820): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGC AGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGG GAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCA GTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGG GAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAG GGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGT GGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAG GAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAGGGG TGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTG GGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAA GGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGG TGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGA GGGGGAGGGGTGCTGCAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CCDC88C_chr14_91266323_91422820	91293493	T T	TCCTCACC others(802): Show TCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAGCTCACC TTCCCATCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAG CTCACCTTCCCATCCTCACCCGCCAGAGCTCACCTTCCCATCCTCACGTG CCACAGCTCACCTTCCCATCCTCACCCACCACAGCTCACCTTCCCATCCT CACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCC CATCCTCACCCGCCACAGCTCACCTTCCCATTCTCACCTGCCACAGCTCA CCTTCCCATTCTCACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCAC AGCTCACCTTCCCATCCTCACCTGCCACAGCCCACCTTCCTGTCCCCTCA CCTGCCACGGCCCACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTTCC TGTCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAG CTCACCTTCCTGCCCCCTCGCCTGCCACAGCTCACCTTCCTGCCCCCTCG CCTGCCACAGCCCACCTCCTGTCCCCTCACCTGCCACGGCCCACCTTCCT GTCCCCTCACCTGCCACAGCCCACCTCCTGTCCCCTCACCTGCCACAGCC CACCTCCTGTCCCCTCACCTGCCACAGCCCACCTTCCCGTCCTCACCTGC CACGGTCCACCTTCCTGTCCCCTCACCTGCCACAGCCCACCTTCCTGTCC CCTCGCCTGCCACAGCTGACCTTCCTGTCCCCTCGCCTGCCACGGTCCAC CTTCCTGTCC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0006 a0006	a0006c0072 a0006c0072	a0006c0072t0001 a0006c0072t0001	a0006c0072t0001g0196 a0006c0072t0001g0196	1	284	0.0035	809	c.411 others(826): Show c.4112+679_4112+680insGGACAGGAAGGTGGACCGTGGCAGGCGA GGGGACAGGAAGGTCAGCTGTGGCAGGCGAGGGGACAGGAAGGTGGGCTG TGGCAGGTGAGGGGACAGGAAGGTGGACCGTGGCAGGTGAGGACGGGAAG GTGGGCTGTGGCAGGTGAGGGGACAGGAGGTGGGCTGTGGCAGGTGAGGG GACAGGAGGTGGGCTGTGGCAGGTGAGGGGACAGGAAGGTGGGCCGTGGC AGGTGAGGGGACAGGAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTG AGCTGTGGCAGGCGAGGGGGCAGGAAGGTGAGCTGTGGCAGGCGAGGGGG CAGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGGTGGGCCGTGGCA GGTGAGGGGACAGGAAGGTGGGCCGTGGCAGGTGAGGGGACAGGAAGGTG GGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGG AAGGTGAGCTGTGGCAGGTGAGAATGGGAAGGTGAGCTGTGGCAGGTGAG AATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCG GGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCT GTGGTGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGG TGAGCTCTGGCGGGTGAGGATGGGAAGGTGAGCTCTGGCGGGTGAGGATG GGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTCTGGCGGGTG AGGATGGGAAGGTGAGCTGTGGCAGGTGAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CD2AP_chr6_47472789_47632263	47505627	C C	CCCCCCCC others(802): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TTACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCGTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCGCTGGCCGGGCAGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGG GGGCTGACCCCCCCACCTCCCTCCTGGACGAGGCGGCTGGCCGGGCGTGG GGCTGACACCCCCCACCTCCCTCCTGGACAGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAACTCC CAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCCCACCTCCCTC CCGGACAGGGCGGTTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGC GGGGCGCTGA	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0263 a0001c0001t0015g0263	1	322	0.0031	809	c.165 others(826): Show c.165+2225_165+2226insCGGGGGGCTGACACCCCCACCTCCCTCC CAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTTACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCGTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCCGCTGGCCGGGCAGGGGGGCTGACCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACC TCCCTCCTGGACGAGGCGGCTGGCCGGGCGTGGGGCTGACACCCCCCACC TCCCTCCTGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCAACTCCCAGACGGGGCGGCTGGC CGGGCGGAGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGTTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGCGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGG	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD2AP_chr6_47472789_47632263	47505627	C C	CCCCCCCC others(802): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TTACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCGTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCGCTGGCCGGGCAGGG GGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTG GGGGGCTGACCCCCCCACCTCCCTCCTGGACGAGGCGGCTGGCCGGGCGT GGGGCTGACACCCCCACCTCCCTCCTGGACAGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGG GGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAACTC CCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCCACCTCCCTC CCGGACAGGGCGGTTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGC GGGGCGCTGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0286 a0001c0001t0021g0286	1	322	0.0031	809	c.165 others(826): Show c.165+2225_165+2226insCGGGGGGCTGACACCCCCACCTCCCTCC CAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTTACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCGTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCCGCTGGCCGGGCAGGGGGGGCTGACCCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCA CCTCCCTCCTGGACGAGGCGGCTGGCCGGGCGTGGGGCTGACACCCCCAC CTCCCTCCTGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCAACTCCCAGACGGGGCGGCTGG CCGGGCGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGTTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGCGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGG	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(802): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAAAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGA AGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAAATTG AAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATAAAAC ACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCTATGT AGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAATTGTG CAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGTACTT TGGAAGGGTCACTAAAATCTACAATAAAAAAGATTCCTTAAATATCCTAG AGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACATGAA GTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGGAGTT TCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGAATTA TACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATATGTA TGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATAAATT TAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACATCCAT ACTACATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGC CCATGCTGGA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0311 a0001c0001t0012g0311	1	336	0.0030	809	c.248 others(826): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAAAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAA GGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAG ATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGA CAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAAT GGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGA GGGACAAGTACTTTGGAAGGGTCACTAAAATCTACAATAAAAAAGATTCC TTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACT TGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGAT GGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAAT TAAGAAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCAT AGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATT TTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGG GCAATACATCCATACTACATATATATATATATATATATATATATATTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGT CTCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(802): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGAAGGG GCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAAATTGAAAT AAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATAAAACACTA TAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCTATGTAGTT AACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAATTGTGCAGT GAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGTACTTTGGA AGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATCCTAGAGGC AGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACATGAAGTGT GAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGGAGTTTCTC ATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGAATTATACG TTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATATGTATGCT ATAAGCCAAAAAAAAAACAGATTCAAATAATTTTAGATATAAATTTAAAA CTATCAATATCAATAGGTCTAAATATTCATGGGCAATACATCCATACTAC ATATATATATATATATATATATATATATATATATATATTTTTTTTTTTTT TTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGC CCATGCTGGA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0021 a0003c0004t0021	a0003c0004t0021g0315 a0003c0004t0021g0315	1	336	0.0030	809	c.248 others(826): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCA AAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCG TTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAA ATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGG AAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGA CAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAA ATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGT GGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAG TTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAG AAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGAT ATATATGTATGCTATAAGCCAAAAAAAAAACAGATTCAAATAATTTTAGA TATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAAT ACATCCATACTACATATATATATATATATATATATATATATATATATATA TTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGT CTCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(802): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGAAGGG GCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAAATTGAAAT AAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATAAAACACTA TAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCTATGTAGTT AACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAATTGTGCAGT GAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGTACTTTGGA AGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATCCTAGAGGC AGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACATGAAGTGT GAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGGAGTTTCTC ATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGAATTATACG TTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATATGTATGCT ATAAGCCAAAAAAAAAACAGATTCAAATAATTTTAGATATAAATTTAAAA CTATCAATATCAATAGGTCTAAATATTCATGGGCAATACATCCATACTAC ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT TTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGC CCATGCTGGA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02647.hp2 HG03225.hp1 HG02615.hp2 HG02647.hp2 HG03225.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0021 a0003c0004t0052 a0003c0004t0053 a0003c0004t0021 a0003c0004t0052 a0003c0004t0053	a0003c0004t0021g0321 a0003c0004t0052g0319 a0003c0004t0053g0320 a0003c0004t0021g0321 a0003c0004t0052g0319 a0003c0004t0053g0320	3	336	0.0089	809	c.248 others(826): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCA AAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCG TTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAA ATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGG AAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGA CAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAA ATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGT GGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAG TTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAG AAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGAT ATATATGTATGCTATAAGCCAAAAAAAAAACAGATTCAAATAATTTTAGA TATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAAT ACATCCATACTACATATATATATATATATATATATATATATATATATATT TTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGT CTCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(802): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGAAGGG GCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAAATTGAAAT AAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATAAAACACTA TAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCTATGTAGTT AACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAATTGTGCAGT GAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGTACTTTGGA AGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATCCTAGAGGC AGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACATGAAGTGT GAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGGAGTTTCTC ATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGAATTATACG TTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATATGTATGCT ATAAGCCAAAAAAAAAACAGATTCAAATAATTTTAGATATAAATTTAAAA CTATCAATATCAATAGGTCTAAATATTCATGGGCAATACATCCATACTAC ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGC CCATGCTGGA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0016 a0005c0006t0016	a0005c0006t0016g0318 a0005c0006t0016g0318	1	336	0.0030	809	c.248 others(826): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCA AAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCG TTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAA ATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGG AAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGA CAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAA ATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGT GGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAG TTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAG AAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGAT ATATATGTATGCTATAAGCCAAAAAAAAAACAGATTCAAATAATTTTAGA TATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAAT ACATCCATACTACATATATATATATATATATATATATATATATTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGT CTCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CFAP20DC_chr3_58737008_59055025	58786706	T T	TAAGATAT others(802): Show TAAGATATGCCAAAGAGCGACCCCTCTCCAAGAGGGATCACTCACAGGCA CTGGTTATTGGCTGGGAGCTCAGCCTGGATTGAGAGATAGGAACTTCATT CCTCTCCATGTGGGTCTCTTCATGTAGCCCAGGCTTCCTCACTGCACGGT GGCTGGCTGCTGAGGGAAAGTGACTCAAGGACCGTATTGCCTCTTAAGAC CCAGGCTTGGAAGTTATACAGTGTTGTCTATCACGTGTGTCAGTCTAATG ACACACAAATTAAGGGGAAGGGACATAACCCCCACCTCTTGAGGGTGAGT GGCAAAGTTTTGGAAGAGCATGTGGGATGGGATATATTGTTGTAGTTATT TTTGAAAAATACAATTTGCTACGTCAGGTATGACATTTTATTACATTCTT TAAAATGTGACAATTGTCCTTCCCTTTTTAAGTTACAAACAAAAAGTAAA ACTAAAGAAGTATCGTGATTTTCTTTAGGCAAAAATCAGTCAACTAGTTT GAAAGTCATTAGTGAAAATATGGAGAAATATTAATTCCAGATAATCAGGT TAAAATGGAGACCTAGCATTATTTGGCCAATTAATTGACAGAATGTTACA AGATGCCAAAGACTGGTAGCATCAAATACTGTATTCCAGACTATAATAGG CAGTAAACTGGAAACATAATCTGTAATTCTGTAAATTGAATTATTGTTGA ATGAATTAATTTTTCCGTATCTGTAATATTTTTACCTTATGTAATAAAAA CCATAAATCTGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA19085.hp1 HG02027.hp2 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0019 a0001c0002t0004g0041 a0001c0002t0002g0019 a0001c0002t0004g0041	2	204	0.0098	809	c.223 others(830): Show c.2237+19688_2237+19689insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTCCAGATTTATGGTTTTTATTACATAA GGTAAAAATATTACAGATACGGAAAAATTAATTCATTCAACAATAATTCA ATTTACAGAATTACAGATTATGTTTCCAGTTTACTGCCTATTATAGTCTG GAATACAGTATTTGATGCTACCAGTCTTTGGCATCTTGTAACATTCTGTC AATTAATTGGCCAAATAATGCTAGGTCTCCATTTTAACCTGATTATCTGG AATTAATATTTCTCCATATTTTCACTAATGACTTTCAAACTAGTTGACTG ATTTTTGCCTAAAGAAAATCACGATACTTCTTTAGTTTTACTTTTTGTTT GTAACTTAAAAAGGGAAGGACAATTGTCACATTTTAAAGAATGTAATAAA ATGTCATACCTGACGTAGCAAATTGTATTTTTCAAAAATAACTACAACAA TATATCCCATCCCACATGCTCTTCCAAAACTTTGCCACTCACCCTCAAGA GGTGGGGGTTATGTCCCTTCCCCTTAATTTGTGTGTCATTAGACTGACAC ACGTGATAGACAACACTGTATAACTTCCAAGCCTGGGTCTTAAGAGGCAA TACGGTCCTTGAGTCACTTTCCCTCAGCAGCCAGCCACCGTGCAGTGAGG AAGCCTGGGCTACATGAAGAGACCCACATGGAGAGGAATGAAGTTCCTAT CTCTCAATCCAGGCTGAGCTCCCAGCCAATAACCAGTGCCTGTGAGTGAT CCCTCTTGGAGAGGGGTCGCTCTTTGGCATATCTT	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	15/16			chr3	TogoVar
CFAP20DC_chr3_58737008_59055025	58786706	T T	TAAGATAT others(802): Show TAAGATATGCCAAAGAGCGACCCCTCTCCAAGAGGGATCACTCACAGGCA CTGGTTATTGGCTGGGAGCTCAGCCTGGATTGAGAGATAGGAACTTCATT CCTCTCCATGTGGGTCTCTTCATGTAGCCCAGGCTTCCTCACTGCACGGT GGCTGGCTGCTGAGGGAAAGTGACTCAAGGACCGTATTGCCTCTTAAGAC CCAGGCTTGGAAGTTATACAGTGTTGTCTATCACGTGTGTCAGTCTAATG ACACACAAATTAAGGGGAAGGGACATAACCCCCACCTCTTGAGGGTGAGT GGCAAAGTTTTGGAAGAGCATGTGGGATGGGATATATTGTTGTAGTTATT TTTGAAAAATACAATTTGCTACGTCAGGTATGACATTTTATTACATTCTT TAAAATGTGACAATTGTCCTTCCCTTTTTAAGTTACAAACAAAAAGTAAA ACTAAAGAAGTATCGTGATTTTCTTTAGGCAAAAATCAGTCAACTAGTTT GAAAGTCATTAGTGAAAATATGGAGAAATATTAATTCCAGATAATCAGGT TAAAATGGAGACCTAGCATTATTTGGCCAATTAATTGACAGAATGTTACA AGATGCCAAAGACTGGTAGCATCAAATACTGTATTCCAGACTATAATAGG CAGTAAACTGGAAACATAATCTGTAATTCTGTAAATTGAATTATTGTTGA ATGAATTAATTTTTCTGTATCTGTAATATTTTTACCTTATGTAATAAAAA CCATAAATCTGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0030	1	204	0.0049	809	c.223 others(830): Show c.2237+19688_2237+19689insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTCCAGATTTATGGTTTTTATTACATAA GGTAAAAATATTACAGATACAGAAAAATTAATTCATTCAACAATAATTCA ATTTACAGAATTACAGATTATGTTTCCAGTTTACTGCCTATTATAGTCTG GAATACAGTATTTGATGCTACCAGTCTTTGGCATCTTGTAACATTCTGTC AATTAATTGGCCAAATAATGCTAGGTCTCCATTTTAACCTGATTATCTGG AATTAATATTTCTCCATATTTTCACTAATGACTTTCAAACTAGTTGACTG ATTTTTGCCTAAAGAAAATCACGATACTTCTTTAGTTTTACTTTTTGTTT GTAACTTAAAAAGGGAAGGACAATTGTCACATTTTAAAGAATGTAATAAA ATGTCATACCTGACGTAGCAAATTGTATTTTTCAAAAATAACTACAACAA TATATCCCATCCCACATGCTCTTCCAAAACTTTGCCACTCACCCTCAAGA GGTGGGGGTTATGTCCCTTCCCCTTAATTTGTGTGTCATTAGACTGACAC ACGTGATAGACAACACTGTATAACTTCCAAGCCTGGGTCTTAAGAGGCAA TACGGTCCTTGAGTCACTTTCCCTCAGCAGCCAGCCACCGTGCAGTGAGG AAGCCTGGGCTACATGAAGAGACCCACATGGAGAGGAATGAAGTTCCTAT CTCTCAATCCAGGCTGAGCTCCCAGCCAATAACCAGTGCCTGTGAGTGAT CCCTCTTGGAGAGGGGTCGCTCTTTGGCATATCTT	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	15/16			chr3	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(802): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCA CCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCT TCCACCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCC CCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTC CCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCC TCCCCCTCTCCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCCTCCTC CCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCT CCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCC TCCTCCCCTTTCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTC CCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0239 a0001c0002t0003g0239	1	270	0.0037	809	c.162 others(830): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCC CTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTT CCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCT TCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCC TTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCTC CCTCTTCCTCCCCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCC TCCTCTCCCTCCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTC CTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCC CTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNOT3_chr19_54132762_54160681	54133833	C C	CTCCCTCT others(802): Show CTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCC CTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCT CTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCA CCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTC CCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTC TCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCAC CTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCT CCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCT CTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTTCCCTCTCTCTCTCC CTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTTCCCTC TCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTC CCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCC CCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCCCTCT CCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTTCCCTCTCTCCACC TCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCT CACTCCACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	223	0.0045	809	c.-42 others(820): Show c.-4211_-4210insTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCC TCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCT CTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCT CTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTC CCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTC TCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC CCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCC CCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCT CTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCT TCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTC ACTCCACCTTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTC CACCTCCCCTCTCTCCCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCC TCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTC TCCCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACC TTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCT CTCTCCACCTCCCCTCACTCCACCT	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3928		chr19	TogoVar
CPNE4_chr3_131528569_132040014	131978270	T T	TTTATATA others(802): Show TTTATATAAATATATATATTTATATATATTTATATAAATATATATATTTA TATATATTTATATATATTTATATATATATTTATATATATTTATATATATT TATATATATATTTATATATATTTATATATATTTATATATATTTATATATA TTTATATATATATTTATATATATTTATATTTATATATATATTTTTATATA TTTATATATATTTTTATATATTTATATATTTATATATATTTATATATATA TTTATATATATTTATATATATATTTATATATATATTTATATATATTTATA TATATATTTATATATATATTTTTATATATTTATATATATTTATATATTTA TATATATTTATATATATATTTATATATATATTTATATATATATTTATATA TATATTTATATATATATTTATATATATTTATATATATATATTTATATATA TTTATATATATATATTTATATATATATATTTATATATATTTATATATATA TTTATATATATTTATATATATTTATATATATATTTATATATATTTATATA TATGTATATTTATATATTTATATATATTTATATATATATTTATATATTTA TATATATTTATATATATATTTATATATTTATATATATTTATATATATTTA TATATATTTATATATATTTATATATATTTATATATTTATATATATTTATA TATTTATATATATTTATATATTTATATATATTTATATATATATTTATATA TTTATATATATTTATATATATATTTATATATTTATATATATTTATATATA TTTATATATA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	94	0.0106	809	c.-2+ others(826): Show c.-2+56296_-2+56297insTATATATAAATATATATAAATATATATA AATATATAAATATATATATAAATATATATAAATATATAAATATATATATA AATATATATAAATATATAAATATATATAAATATATAAATATATATAAATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAATATATAAATATATATATAAATATATATAAATATATAAATATATA TATAAATATATATAAATATATAAATATACATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATATATAAATATATATATATAAATATATATAAATATATATA TATAAATATATATAAATATATATATAAATATATATATAAATATATATATA AATATATATATAAATATATATATAAATATATATAAATATATAAATATATA TAAATATATAAAAATATATATATAAATATATATATAAATATATATAAATA TATATATAAATATATATATAAATATATATAAATATATATATAAATATATA TAAATATATAAATATATAAAAATATATATAAATATATAAAAATATATATA TAAATATAAATATATATAAATATATATATAAATATATATAAATATATATA AATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATATTTATA TAAATATATATAAATATATATATTTATATAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CRTC3_chr15_90524923_90650345	90647319	C C	CCTCCTCC others(802): Show CCTCCTCCTCTGCCACACCCCTACTCCTCCTCACCCATCCTCCTCCACAC CCCTTCTAGTCCACCACTCCCCCCTCCTCCTCCACACCCCTCCTCCTCCT CCACACTCTTACCCCTCCACACCCCTCCTCTTCCACCAGACCCCTCCTCC ACACCCCTCCCCCCACCTCACTTCTCCCCCTTCACACACCTCCTCAACCT TCACATCCCTCCCCCTCCACATCCCTTCCCCCTCCTCACCCCTCTCCCCT CATCACCTCTCCTCCTCCTCCACACCCCTCCTCCTCCACACCCATCATCC TCCACGCCCCTTCTCCTCACTCCTCCTCCTCCTGCACACCCCTTCTCCTC CTCACCCTTTGTCCTACTCCACACCACTCCTCTGCCTCACCTCTTCTCTT CACCCCTTCTCCTCCTCCATACCCCTCCTCAACTCTCCTCCTCCACACTC CTCCTCACCCCGTCCTCCTCCAAACCCTTCCCCCTCCTCTTGGTTCCTCC TCCACACCCCTCCTGCTCCACATCCCTCCCCCTCCACCCCCTCCACACCC CTCCTCTGCCTCATGCCTCTTCCTCACCCCTCCTCCTCCACACCCCTCAT CCTCCTCCACACCCCTCCTCCGCCTCACCCCTCCTCCGCCTCACCCCTCC TCCTCACCCCTTCTCCTCTCCACATCCCTCCTGCTCCACATCCCTCCTGC TTCACACCCCTCCCCCTCCTCCTTCACACCCCTCATCCTCCACACTCCTC CCCTCCACACCCCTCCTCCTCTACACCCCGCCTCCTCCTCCACACCCCTC CCCCTCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	276	0.0036	809	c.51 others(820): Show c.5179_*5180insCTCCTCCTCTGCCACACCCCTACTCCTCCTCACC CATCCTCCTCCACACCCCTTCTAGTCCACCACTCCCCCCTCCTCCTCCAC ACCCCTCCTCCTCCTCCACACTCTTACCCCTCCACACCCCTCCTCTTCCA CCAGACCCCTCCTCCACACCCCTCCCCCCACCTCACTTCTCCCCCTTCAC ACACCTCCTCAACCTTCACATCCCTCCCCCTCCACATCCCTTCCCCCTCC TCACCCCTCTCCCCTCATCACCTCTCCTCCTCCTCCACACCCCTCCTCCT CCACACCCATCATCCTCCACGCCCCTTCTCCTCACTCCTCCTCCTCCTGC ACACCCCTTCTCCTCCTCACCCTTTGTCCTACTCCACACCACTCCTCTGC CTCACCTCTTCTCTTCACCCCTTCTCCTCCTCCATACCCCTCCTCAACTC TCCTCCTCCACACTCCTCCTCACCCCGTCCTCCTCCAAACCCTTCCCCCT CCTCTTGGTTCCTCCTCCACACCCCTCCTGCTCCACATCCCTCCCCCTCC ACCCCCTCCACACCCCTCCTCTGCCTCATGCCTCTTCCTCACCCCTCCTC CTCCACACCCCTCATCCTCCTCCACACCCCTCCTCCGCCTCACCCCTCCT CCGCCTCACCCCTCCTCCTCACCCCTTCTCCTCTCCACATCCCTCCTGCT CCACATCCCTCCTGCTTCACACCCCTCCCCCTCCTCCTTCACACCCCTCA TCCTCCACACTCCTCCCCTCCACACCCCTCCTCCTCTACACCCCGCCTCC TCCTCCACACCCCTCCCCCTCACCT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1975		chr15	TogoVar
DNAH10_chr12_123757301_123940714	123911594	T T	TGGGGGGG others(802): Show TGGGGGGGGGGGTCTGTCCTGGGGGGGGGGTCTGTCCTGGGGGGTCTGTC CTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGG GGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGG GGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGCCT GTCCTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTC CTGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCT GGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGCCTGTCCTGGGGG GGGGTCTGTCCTGGGGGAGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGG GTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGT CCTGGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGAGGGGTCTGTCCT GGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGG GGGTCTGTCCTGGGGGGTTTGTCCTGGGAGGGGTCTGTCCTGGGGGTTCT GTCCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCCTG GGGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGG GAGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGG GGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGG GTCTGTCCTG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0139 a0002c0004t0002g0139	1	170	0.0059	809	c.101 others(828): Show c.10134+931_10134+932insGGTCTGTCCTGGGGGGGGGGTCTGTC CTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGG GGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGT CTGTCCTGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCT GTCCTGGGGGGCCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTC CTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGG GGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGG GCCTGTCCTGGGGGGGGGTCTGTCCTGGGGGAGGGTCTGTCCTGGGGGGT CTGTCCTGGGGGGGGTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGT CCTGGGGGGTTTGTCCTGGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGG GAGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGG GGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGAGGGGTCT GTCCTGGGGGTTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTG GGGGGTTTGTCCTGGGGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGG GGGGTTTGTCCTGGGAGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGG GGTCTGTCCTGGGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGG GTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
EIPR1_chr2_3183970_3382818	3221594	T T	TCGGGAAC others(802): Show TCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAG TGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTC ACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGC ACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTA GAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACAC TCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGT ACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCG AGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATG GCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACAC AATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGC ACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACAC ACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGA ACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTC GGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTG AGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCAC AGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCAC TCACAGTGAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02145.hp1 HG03831.hp2 others(1): Show HG00621.hp2 HG02145.hp1 HG03831.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0039 a0001c0001t0001g0060 a0001c0001t0001g0246 others(1): Show a0001c0001t0001g0039 a0001c0001t0001g0060 a0001c0001t0001g0246 a0001c0001t0006g0182	4	250	0.0160	809	c.417 others(826): Show c.417-7347_417-7346insCTCACTGTGAGTGCTCTAGAGTGTACCT CGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGT ACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGA GTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTC TAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGT GCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGT GAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCA CTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGA CTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTC CCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGT GTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGC GTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGT GTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCA TTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCG GCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTAC CTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGT GTACCTCGGCCATTGTGTGCGTGTGTTCCCG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3316029	C C	CACCACCA others(802): Show CACCACCATCACCACCATCCCCATCCACAGCCCCTACCACCACCATCACC ACCATCCCCATCCACAGCCCCACCACCATCCTCACCACCATCCCCATCCA CACCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCCTACCAC CACCATCACCACCATCCCCATACACACCCCCTACCACCACCATCACCACC ATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCCCCATCCACA GCCCCACCACCATCCTCACCACCATCCCCATCCACACCCCCTACCACCAC CATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATC CCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCC CCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCA TCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCC CATCCACACCCCCTACCACCACCATCACCACCATCCCCATACACACCCCC TACCACCACCATCACCACCATCCCCATACACACCCCCTACCACCACCATC ACCACCATCCCCATACACACCCCCTACCACCATCCTCACCACCATCCCCA TCCACACCCCCTACCACCACCATCACCACCATCCCCATACACACCCCCTA CCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCAC CACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATA CACACCCCCT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	250	0.0040	809	c.259 others(828): Show c.259+21987_259+21988insAGGGGGTGTGTATGGGGATGGTGGTG ATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAG GGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGTATGG GGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAG GATGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGGG GGTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGTATGGGG ATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGG TGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGG TGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGAT GGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTG GTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTG TGGATGGGGATGGTGGTGAGGATGGTGGTGGGGCTGTGGATGGGGATGGT GGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTG GTAGGGGGTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGG ATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGG TGAGGATGGTGGTGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTA GGGGCTGTGGATGGGGATGGTGGTGATGGTGGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EPHB2_chr1_22705839_22926500	22754841	G G	GGAGGTGA others(802): Show GGAGGTGAGGGGCAGGGGAGGGGAGGTGAGGGGCAGGGGAGGGGAGGTGA GGGGCAGGGGAGATAAGAGGCAGGTGAGGTGAGATGAGGGGCAGGTGAGA TGAGATGAGGGGCAGGGAAGGTGAGATGAGGGACAGGGGAGGTGAGGTGA GGGACAGGGGAGGTGAGGTGAGGGACAGGGGAGATAAGAGGCAGGTGAGG TGAGATGAGGGGCAGGTGAGATGAGATGAGGGGCAGGGAAGGTGAGATGA GGGACAGGGGAGGTGAGGTGAGGGACAGGGGAGATAAGAGGCAGGTGAGG TGAGATGAGGGGCAGGTGAGATGAGATGAGGGGCAGGGAAGGTGAGATGA GGGACAGGGGAGGTGAGGTGAGGGACAGGGGAGGTGAGGTGAGGGTCAGG GGAGGTGAAGGGCAGGTGAGGTGAGATGAGGGGCAGGGGAGATGAGATGA GGGGCAGAGAAGGTGAGATGAGGGATGGGGAGGTGAGGTGAGGGGCAGGG GAGGTGAGGTGAGGGGCAGGGGAGGTGAGGGGAGGTGAGATGAGGGGCAG GTGAGATGAGGGGCAAGGGAGGTGAGATGAGGGGCAGGTGAGGTGAGATG AGGGGCAGGTGAGGTGAGACGAGGGGCAGGTGAGGTGAGACGTGGGGCAG GTGAGGTGAGGGACAGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGTG AGGGACAGGTGAGGTGAGGGGCAGGGGAGGTGAGGCAAGGGTCAGGGAAG CTGAGGCGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGGG CAGGGGAGGT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0157 a0001c0001t0008g0157	1	248	0.0040	809	c.62- others(826): Show c.62-26570_62-26569insGCAGGGGAGGGGAGGTGAGGGGCAGGGG AGGGGAGGTGAGGGGCAGGGGAGATAAGAGGCAGGTGAGGTGAGATGAGG GGCAGGTGAGATGAGATGAGGGGCAGGGAAGGTGAGATGAGGGACAGGGG AGGTGAGGTGAGGGACAGGGGAGGTGAGGTGAGGGACAGGGGAGATAAGA GGCAGGTGAGGTGAGATGAGGGGCAGGTGAGATGAGATGAGGGGCAGGGA AGGTGAGATGAGGGACAGGGGAGGTGAGGTGAGGGACAGGGGAGATAAGA GGCAGGTGAGGTGAGATGAGGGGCAGGTGAGATGAGATGAGGGGCAGGGA AGGTGAGATGAGGGACAGGGGAGGTGAGGTGAGGGACAGGGGAGGTGAGG TGAGGGTCAGGGGAGGTGAAGGGCAGGTGAGGTGAGATGAGGGGCAGGGG AGATGAGATGAGGGGCAGAGAAGGTGAGATGAGGGATGGGGAGGTGAGGT GAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGGGAGGTGAG ATGAGGGGCAGGTGAGATGAGGGGCAAGGGAGGTGAGATGAGGGGCAGGT GAGGTGAGATGAGGGGCAGGTGAGGTGAGACGAGGGGCAGGTGAGGTGAG ACGTGGGGCAGGTGAGGTGAGGGACAGGGGAGGTGAGGTGAGGGGCAGGG GAGGTGAGGTGAGGGACAGGTGAGGTGAGGGGCAGGGGAGGTGAGGCAAG GGTCAGGGAAGCTGAGGCGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGG GAGGTGAGGGGCAGGGGAGGTGAGGTGAGGG	EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
EXD3_chr9_137301896_137428162	137355563	G G	GGAGGAAG others(802): Show GGAGGAAGGAGGAAGGGAGGAAGGAGGAAGGAGAAAGGAGGAAGGAGGAA GGAGGAAGGAGGAAGGAGGACGGAGGAAGGAGGAAGGAGGAAGGTAGGAT GGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGAAAGGGAGGAA GGAGAAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAA GGAGGAAGGAGGAAGGAGAAGAGGAAGGAGGAAGGAGGAAGGAGTAAGGA GAAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGAAAGGA GGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAGAGGAAGGAGG AAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGAAGGAGAAAGGGAGGAAG GAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAG GAGGAAGGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAG GAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGG GAGGAAGGAGAAAGGAGGAAGGGAGGATGGAGGAAGGAGGAAGGAGGAAG GAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGG AGAAGAGGAAGGAGGAAGGAGGAAGGAGGAAGGGAGGAAGGAGGAAGGAG GAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAG GAAGGAGGAAGGGAGGAAGGAGGAAGGAGGATGGAGGATGGAGGAAGGAG GAAGGAGGAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0028 a0028	a0028c0034 a0028c0034	a0028c0034t0001 a0028c0034t0001	a0028c0034t0001g0067 a0028c0034t0001g0067	1	82	0.0122	809	c.757 others(824): Show c.757+704_757+705insTTCCTCCTTCCTCCTTCCTCCATCCTCCAT CCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTT CCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCT TCCTCCTTCCTCCTTCCTCCTTCCTCTTCTCCTTCCTCCTTCCTCCTTCC TCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCTTCCTCCTTCCT CCATCCTCCCTTCCTCCTTTCTCCTTCCTCCCTTTCTCCTTCCTCCTTCC TCCTTCCTCCTTCCTCCATCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCT CCTTCCTCCTTCCTCCATCCTCCCTTCCTCCTTCCTCCTTCCTCCTTCCT CCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCCTTTCTCCTTCT TCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCTTCTCCTTC CTCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTTCTCCTTCCTCCCTT TCTCCTTCCTCCTTCCTCCTTCCTCCTTTCTCCTTACTCCTTCCTCCTTC CTCCTTCCTCTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTC CTTCCTCCTTCCTCCCTTCCTCCTTTCTCCTTCCTCCCTTTCTCCTTCCT CCATCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTACCTTCCTCCTTCCT CCTTCCTCCGTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTTCTC CTTCCTCCTTCCTCCCTTCCTCCTTCCTC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
FBXO47_chr17_38931432_38972403	38946707	T T	TATATAAA others(802): Show TATATAAATATATAAATAAAAATATATAAAAATATATACATATATAAATA TAAATATATAATATATAAATATATAAATATATAAATATATAAATATAAAT ATATAAAAATATATAAATATATAAAAATATATAAATATATAAAAATATAT AAATATATAAATATATAAATATATATAAATATATAAATATATAAATATAT ATAAATATATAAATATATAAATATATAAAAATATATAAATACATAAATAT ATAAATATATAAATATATAAATATATAAATATATAAATATATATAAGTAC ATATAAATATATATACATAAATATATAAATATATAAATAAATATATAAAT ACATAATATATATAAATATAAAATATATATAATATATAAAATATATTAAA AATATAAAAATATATATAAAAAATATATAAATATATAAAAATATATAAAA AATATATACACATATAAATATATATAAAAATATATAAATATATATAAAAA TATATAAATATATATTATATATAAATATATAATATATAAATATATATAAA TATATAAATATATATAAATATATACAATATATAAATATATATAAATATAT ACAATATATAAATATATATAAATATATACAATATATAAATATATATAAAT ATATACAATATATAAATATATATAAATATATACAATATATAAATATATAT AAATATATATAATATATAAATATATATAAATATATACAATATATAAATAT ATATAAATATATATAATATATAAATATATATAAATATATAAATATATATA AATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02922.hp2 HG02257.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0280 a0001c0001t0001g0281	2	344	0.0058	809	c.617 others(826): Show c.617-1572_617-1571insTATATATATTTATATATATTTATATATT TATATATATTTATATATTATATATATTTATATATATTTATATATTGTATA TATTTATATATATTTATATATTATATATATTTATATATATTTATATATTG TATATATTTATATATATTTATATATTGTATATATTTATATATATTTATAT ATTGTATATATTTATATATATTTATATATTGTATATATTTATATATATTT ATATATTGTATATATTTATATATATTTATATATTTATATATATTTATATA TTATATATTTATATATAATATATATTTATATATTTTTATATATATTTATA TATTTTTATATATATTTATATGTGTATATATTTTTTATATATTTTTATAT ATTTATATATTTTTTATATATATTTTTATATTTTTAATATATTTTATATA TTATATATATTTTATATTTATATATATTATGTATTTATATATTTATTTAT ATATTTATATATTTATGTATATATATTTATATGTACTTATATATATTTAT ATATTTATATATTTATATATTTATATATTTATATATTTATGTATTTATAT ATTTTTATATATTTATATATTTATATATTTATATATATTTATATATTTAT ATATTTATATATATTTATATATTTATATATTTATATATTTTTATATATTT ATATATTTTTATATATTTATATATTTTTATATATTTATATTTATATATTT ATATATTTATATATTTATATATTATATATTTATATTTATATATGTATATA TTTTTATATATTTTTATTTATATATTTATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATATG others(802): Show TATATATGAATATATAAATATATATAAATATATAAATATATAAATAAAAA TATATAAAAATATATACATATATAAATATAAATATATAATATATAAATAT ATAAATATATAAATATATAAATATAAATATATAAAAATATATAAATATAT AAAAATATATAAATATATAAATATATATAAATATATAAATATATAAATAT ATATAAATATATAAATATATAAATATATAAAAATATATAAATACATAAAT ATATAAATATATAAATATATAAATATATAAATATATATAAGTACATATAA ATATATATACATAAATATATAAATATATAAATATATAAATATATAAATAC ATAATATATATAAATATAAAATATATATAATATATAAAATATATTAAAAA TATAAAAATATATATAAAAAATATATAAATATATAAAAATATATAAAAAA TATATACACATATAAATATATATAAAAATATATAAATATATATAAAAATA TATAAATATATATTATATATAAATATATAATATATAAATATATATAAATA TATAAATATATATAAATATATACAATATATAAATATATATAAATATATAC AATATATAAATATATATATACAATATATAAATATATATAAATATATACAA TATATAAATATATATAAATATATACAATATATAAATATATATAAATATAT ACAATATATAAATATATATAAATATATATAATATATAAATATATATAAAT ATATAAATATATATAAATATATATAATATATAAATATATAAAAATATATA AATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	344	0.0029	809	c.617 others(826): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATATT TATATATTATATATATTTATATATATTTATATATTTATATATATTTATAT ATTATATATATTTATATATATTTATATATTGTATATATTTATATATATTT ATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATAT ATTTATATATTGTATATATATATTTATATATTGTATATATTTATATATAT TTATATATTGTATATATTTATATATATTTATATATTTATATATATTTATA TATTATATATTTATATATAATATATATTTATATATTTTTATATATATTTA TATATTTTTATATATATTTATATGTGTATATATTTTTTATATATTTTTAT ATATTTATATATTTTTTATATATATTTTTATATTTTTAATATATTTTATA TATTATATATATTTTATATTTATATATATTATGTATTTATATATTTATAT ATTTATATATTTATATATTTATGTATATATATTTATATGTACTTATATAT ATTTATATATTTATATATTTATATATTTATATATTTATGTATTTATATAT TTTTATATATTTATATATTTATATATTTATATATATTTATATATTTATAT ATTTATATATATTTATATATTTATATATTTTTATATATTTATATATTTTT ATATATTTATATTTATATATTTATATATTTATATATTTATATATTATATA TTTATATTTATATATGTATATATTTTTATATATTTTTATTTATATATTTA TATATTTATATATATTTATATATTCATATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATATG others(802): Show TATATATGAATATATAAATATATATAAATATATAAATATATAAATAAAAA TATATAAAAATATATACATATATAAATATAAATATATAATATATAAATAT ATAAATATATAAATATATAAATATAAATATATAAAAATATATAAATATAT AAAAATATATAAATATATAAATATATATAAATATATATAAATATATAAAT ATATAAATATATATAAATATATAAATATATAAATATATAAAAATATATAA ATACATAAATATATAAATATATAAATATATAAATATATAAATATATATAA GTACATATAAATATATATACATAAATATATAAATATATAAATATATAAAT ACATAATATATATAAATATAAAATATATATAATATATAAAATATATTAAA AATATAAAAATATATATAAAAAATATATAAATATATAAAAATATATAAAA AATATATACACATATAAATATATATAAAAATATATAAATATATATAAAAA TATATAAATATATATTATATATAAATATATAATATATAAATATATATAAA TATATAAATATATATAAATATATACAATATATAAATATATATAAATATAT ACAATATATAAATATATATATACAATATATAAATATATATAAATATATAC AATATATAAATATATATAAATATATACAATATATAAATATATATAAATAT ATACAATATATAAATATATATAAATATATATAATATATAAATATATATAA ATATATAAATATATATAAATATATATAATATATAAATATATAAAAATATA TAAATATATA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	344	0.0029	809	c.617 others(826): Show c.617-1600_617-1599insTATATATTTATATATTTTTATATATTTA TATATTATATATATTTATATATATTTATATATTTATATATATTTATATAT TATATATATTTATATATATTTATATATTGTATATATTTATATATATTTAT ATATTGTATATATTTATATATATTTATATATTGTATATATTTATATATAT TTATATATTGTATATATATATTTATATATTGTATATATTTATATATATTT ATATATTGTATATATTTATATATATTTATATATTTATATATATTTATATA TTATATATTTATATATAATATATATTTATATATTTTTATATATATTTATA TATTTTTATATATATTTATATGTGTATATATTTTTTATATATTTTTATAT ATTTATATATTTTTTATATATATTTTTATATTTTTAATATATTTTATATA TTATATATATTTTATATTTATATATATTATGTATTTATATATTTATATAT TTATATATTTATGTATATATATTTATATGTACTTATATATATTTATATAT TTATATATTTATATATTTATATATTTATGTATTTATATATTTTTATATAT TTATATATTTATATATTTATATATATTTATATATTTATATATTTATATAT ATTTATATATATTTATATATTTATATATTTTTATATATTTATATATTTTT ATATATTTATATTTATATATTTATATATTTATATATTTATATATTATATA TTTATATTTATATATGTATATATTTTTATATATTTTTATTTATATATTTA TATATTTATATATATTTATATATTCATATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
GRK4_chr4_2958571_3045760	2961219	T T	TAGTAACT others(802): Show TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAATATATAGTAACTATATTAATATAGTTAGTATATATTAATATATAGT AACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAA TATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTA TATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATAT AGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA GTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0171 a0004c0005t0002g0171	1	268	0.0037	809	c.-28 others(820): Show c.-2852_-2851insAGTAACTATATTAATAATATAGTTAGTATATTAA TATATAGTAACTATATTAATATATAGTAACTATATTAATATAGTTAGTAT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAATATAGTTAGTATATTAATATATAGTAACTATATTA ATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTT AGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAAT ATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAAT ATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTAT ATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATA GTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATT AATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGT TAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAA TATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAAC TATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAA TATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTA TATTAATATATAGTAACTATATTAA	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2351		chr4	TogoVar
IFNAR1_chr21_33319970_33364864	33322401	T T	TATATATA others(802): Show TATATATATATGGAATATATATATGCAGTATATATATATGAATATATATA TGGAATATATATGGAATATATATATGGAATATATATATGGAATATATATA TGGAATATATATATGGAATATATATATGGAATATATATATATGTGGAATA TATATATGGAATATATATATATGTGGAATATATACATGGAATATATATAT GGAATATATACATGGAATATATGTATATGGAATATATACATGGAATATAT GTATATGGAATATATACATGGAATATGTGTATATGGAATATATACATGGA ATATGTGTATATGGAATATATACATGGAATATATATATGGAATATATACA TGGAATATATATATGGAATATATACATGGAATATATATATATGGAATATA TACATGGAATATATATATATGGAATATATACATGGAATATATATATATAG AATATATACATGGAATATATATATGGAATATATACATGGAATATATATAT ATGGAATATATACATGGAATATATACATGGAATATATACATGGAACATAT ACATGGAATATATACATGGAACATATACATGGAATATATATATATGGAAC ATATACGGAATATATATATGGAATATATACGGAATATATATATATGGAAT ATATATACGGAATATATATATGGAATATATATACGGAATATATATATATG GAATATATATACGGAATATATATATATGGAATATATATACGGAATATATA TATGGAATATATATATGGAATATGTATATGGAATATATATATATGGAATA TGTATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0187 a0002c0002t0002g0187	1	323	0.0031	809	c.-26 others(820): Show c.-2655_-2654insATATATATATGGAATATATATATGCAGTATATAT ATATGAATATATATATGGAATATATATGGAATATATATATGGAATATATA TATGGAATATATATATGGAATATATATATGGAATATATATATGGAATATA TATATATGTGGAATATATATATGGAATATATATATATGTGGAATATATAC ATGGAATATATATATGGAATATATACATGGAATATATGTATATGGAATAT ATACATGGAATATATGTATATGGAATATATACATGGAATATGTGTATATG GAATATATACATGGAATATGTGTATATGGAATATATACATGGAATATATA TATGGAATATATACATGGAATATATATATGGAATATATACATGGAATATA TATATATGGAATATATACATGGAATATATATATATGGAATATATACATGG AATATATATATATAGAATATATACATGGAATATATATATGGAATATATAC ATGGAATATATATATATGGAATATATACATGGAATATATACATGGAATAT ATACATGGAACATATACATGGAATATATACATGGAACATATACATGGAAT ATATATATATGGAACATATACGGAATATATATATGGAATATATACGGAAT ATATATATATGGAATATATATACGGAATATATATATGGAATATATATACG GAATATATATATATGGAATATATATACGGAATATATATATATGGAATATA TATACGGAATATATATATGGAATATATATATGGAATATGTATATGGAATA TATATATATGGAATATGTATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2568		chr21	TogoVar
INO80_chr15_40973880_41121280	41031545	A A	AGGAAGGG others(802): Show AGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGA AGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAG GGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGAGGGA GGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGG AGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAG GGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGGG AGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAG GGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAG GAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAA GGGAGGGAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGA GGGAGGAAGGGAGAAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAGG GAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAG GGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGA AGGGAGGAAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	282	0.0036	809	c.290 others(828): Show c.2908-3810_2908-3809insCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCC CTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCC CTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCCCTCCCTTCCTCCCTCCT CCCTTCCTCCCTTCCTCCCTCCTCCCTCCCTCCCTTCCTCCCTCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTCCC TCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCC CTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCC CTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCT CCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTCCCT CCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCC CTCCCTTCCTCCCTTTCTCCCTTCCTCCCTCCCTTCCTCCCTCCTCCCTT CCTCCCTTCCTCCCTCCTCCCTCCCTCCCTTCC	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
LHPP_chr10_124456823_124619141	124506729	A A	AGGAGGAT others(802): Show AGGAGGATTTCAGGTCGGGGGGTAGACAGGATTTCAGGTGAGGGGGGTAG GGAGGATTTCAGGTCGGGGGGTAGACAGGATTTCAGGTGAGGCGGGTAGG GAGGATTTCAGGTGCAGGGGTAGACAGGATTTCAGGTGAGGGGGGTAGGG AGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACA GGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGTAGGGA GGATTTCAGGTGAGGGGGGTAGACAGGATTTCAGGTGGGGGGGGTAGACA GGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAG GATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGTAGACAG GATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGG ATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGTAGGGAGGA TTTCAGGTGAGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGAT TTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATT TCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTT CAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTC AGGTGGGGGGGTAGGCAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAG GTGGGGGGTAGACAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGT GGGGGGGTAG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	260	0.0039	809	c.624 others(826): Show c.624+8615_624+8616insCGGGGGGTAGACAGGATTTCAGGTGAGG GGGGTAGGGAGGATTTCAGGTCGGGGGGTAGACAGGATTTCAGGTGAGGC GGGTAGGGAGGATTTCAGGTGCAGGGGTAGACAGGATTTCAGGTGAGGGG GGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGG GTAGACAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGAGGGGG GTAGGGAGGATTTCAGGTGAGGGGGGTAGACAGGATTTCAGGTGGGGGGG GTAGACAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGGGG TAGGGAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGAGGGGGG TAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGT AGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGTA GGGAGGATTTCAGGTGAGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAG GGAGGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGG GAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGG AGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGA GGATTTCAGGTGGGGGGGTAGGCAGGATTTCAGGTGGGGGGGTAGGGAGG ATTTCAGGTGGGGGGTAGACAGGATTTCAGGTCGGGGGGGTAGACAGGAT TTCAGGTGGGGGGGTAGGGAGGATTTCAGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(802): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGCGG AAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGGGAAAAGGGGCGG GGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGGTGGGGGGAAGG GGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGGGAAGGGGAAAG GGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGG GGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAG GGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGAGGGG GGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGG GGAGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGG AGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGG GGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGAAGA GAGGGAGGGGGAGAGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGG AGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGA GGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAAGGGAGG GGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGA GGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0030 a0001c0001t0005g0030	1	272	0.0037	809	c.250 others(824): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCATCCC TCCTCCCTCCCCCTCCCCCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCT CCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCC CCTCCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCT CCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCAC CCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCC CCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCC CCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCC CCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCT CCTTCCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(802): Show AAGGGGGGAAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAG GGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGG GAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGG AAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGG AAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAA GGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTG AGGGGAGGATGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGG GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGG GGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGAGGGG GGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGGGGGAGGGGGAGGGAAGAG AGGGAGGGGGGAGAGGGAGGGAAGGGAGGGGGAGGGAGGGGGAGGGAAGG GAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGG GAGGAGGGATGGGAGTGGAGGGGGAGGGGAGGGAGGAGGGATGGGAGTGG AGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGG GGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGA GGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	272	0.0037	809	c.250 others(824): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCC TCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACT CCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTCC CCCTCCCTTCCCTCCCTCTCCCCCCTCCCTCTCTTCCCTCCCCCTCCCCC CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCC CCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCT CCCCTCCCCTCCCCTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCC CCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCC TTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCT TTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTT TTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTC CCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCC CTCCTTCCCCCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(802): Show AAGGGGGGAAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAG GGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGG GAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGG AAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGG AAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGGAAAGGGGTGGGGGGA AGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGT GAGGGGAGGATGGAGGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGG GGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGG GAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGG AGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGAAGAGA GGGAGGGGGAGAGGGAGGGAAGGGAGGGGGAGGGAGGGGGAGGGAAGGGA GGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGA GGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGA GGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGGAGGGAAGGGAGG GGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGA GGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0259 a0001c0001t0003g0259	1	272	0.0037	809	c.250 others(824): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCCTC CCCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCC CTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCA CTCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCT CCCCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCC CCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCC CTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCC TTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCT TTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTT TTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTC CCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCC CTCCTTCCCCCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
NOP14_chr4_2932936_2968406	2961219	T T	TAGTAACT others(802): Show TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAATATATAGTAACTATATTAATATAGTTAGTATATATTAATATATAGT AACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAA TATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTA TATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATAT AGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA GTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0071 a0002c0002t0001g0071	1	422	0.0024	809	c.195 others(826): Show c.195+1905_195+1906insTTAATATAGTTACTATATATTAATATAC TAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTA TTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTT ACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATTA ATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAACT ATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAAT ATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTAT ATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATATA CTAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATT ATTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGT TACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATT AATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAAC TATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAA TATAGTTACTATATATTAATATACTAACTATATTAATATAGTTACTATAT ATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATATATA CTAACTATATTAATATAGTTACTATATATTAATATAGTTACTATATATTA ATATACTAACTATATTATTAATATAGTTACT	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(802): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAGGGGAGGGGAAGGGGGAGGGG AAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAA GGGGAGGGGGAGAGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGAGGGGGAG GGGAGGAGGGGGAGGAAGGGGAGGGAGGAGGGGAGGAGGGGGAGGAGGAG GGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGAGGGG AGGGGAGGAGGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGA GGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGG GAGGAGGGGGAGGGGAGGGGGAGAGGGGAGGGGAGGGGGGAGGGGAGGGG AGGAGGGGAGGGGAGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGG AGGGGAGGGGAGGAGGGGGAGGGGAGGAAAGGAAGGGAGGGAAGGGGAGG GGAGGAGTGGAGAGGAGGATGAGGGGAGGGGAGGGGAGGAGTGGAGAGGA GGGTAAGGGAAGGAAGCAGAGGAGGGAGGAGTGGAGAGGAGGGGAAGGGA GGGGAGGGGTGCGGGAGGGGAGGGGTGCGGGAGGGGAGGGTAAGGGAAGG GAGGGGAGGGTGGGGGAGGGGAGGGAAGAGGAGTGGAGAGGAGGAGAAGG GAGGGGAGGG	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0188 a0001c0017t0001g0188	1	208	0.0048	809	c.279 others(824): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCTTCCCCTCCTCTCCAC TCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTCCCCTC CCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCCCTTCC TTTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCTCCCCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCC CCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCTCCCCCTCCTCCC CTCCTCCCTCCCCTTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCC CTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCTCTCCCCCTCCCCTTCCCCTCCCCCTTCCCCTC CCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCC CTCCCCTCCCCTTCCCACCCCTCCCTTCTCCTTCCCCCTCCCCTTCCCTC CCTTCCCTTCTCCCCCCTCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
NUP93_chr16_56725129_56855286	56739350	C C	CCCCCCAA others(802): Show CCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCC TCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGATGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCC CGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGC GGAGGGCTGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	378	0.0027	809	c.-14 others(826): Show c.-14-8879_-14-8878insAACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACTCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGGCTGA CCCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCCGA CATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATC CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACG GGGTGGCTGGCCGGGCGGAGGGCTGACCCCC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRPF31_chr19_54110754_54136713	54133833	C C	CTCCCTCT others(802): Show CTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCC CTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCT CTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCA CCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTC CCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTC TCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCAC CTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCT CCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCT CTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTTCCCTCTCTCTCTCC CTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTTCCCTC TCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTC CCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCC CCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCCCTCT CCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTTCCCTCTCTCCACC TCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCT CACTCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	227	0.0044	809	c.24 others(820): Show c.2401_*2402insTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCC TCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCT CTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCT CTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTC CCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTC TCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC CCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCC CCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCT CTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCT TCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTC ACTCCACCTTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTC CACCTCCCCTCTCTCCCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCC TCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTC TCCCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACC TTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCT CTCTCCACCTCCCCTCACTCCACCT	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2121		chr19	TogoVar
PTPRT_chr20_42067756_43194906	43068103	G G	GGAGGGAG others(802): Show GGAGGGAGGAAGGAAGGGGAGGGAGGGGAGGAAGGAAGGGGAGGGAGGGG AGGAAGGAAGGGGAGGGAGGGGAGGAAGGAAGGGCAGAGAGGAGGGAAGG AAGGAAGGGCAGAGACGAGGGAAGGAAGGAAGGGCAGAGAGGAGGGAAGG AAGGGGTGAGAGGAGGGAAGGAAGGGGTGAGAGGAGGGAAGGAAGGGGGA GAGGAGGGAAGGAAGGGGGGAGAGGAGAGAAGGAAGGGGGAGAGGAGGGA AGGAAGGGGGAGAGGAGGGAAGGAAGGGGGGAGAGGAGGGAAGGAAGGGG GGAGAGGAGGGAAGGAAGTGGGGAGAGGAGGGAAGGAAGGGGGGAGAGGA GGGAAGGAAGGGGGAGAGGAGGGAAGGAAGGGGGGAGAGGAGGGAAGGAA GGGGGGAGAGGAGGGAAGGAAGTGGGGAGAGGAGGGAAGGAAGGGGGGAG AGGAGGGAAGGAAGGGGGAGAGGAGGGAAGGAAGGGGGAGAGGAGGGAAG GAAGGGGGAGAGGAGGAAAGGAAGGGGGAGAGGAGGAAAGGAAGGTGGGA GAGGAGGAAAGGAAGGGGGGAGAGGAGGAAAGGAAGGGGGGAGAGGAGGA AAGGAAGGGGGAGAGGGAGGGAGGAAGGGGGAGGGAGGGAGGAAGGAAGG AAGCAAGCAAGCAAGCAAAGCTGCTCAGAAACTAACTTCAGGAAGAAGGG AGGGAAGCTAACTTCAGAAGCTAACTTCAGGAGGGAGGGAAGGAAGGAAG GGAAGAAGGAGGGAAGGGAGGTAGGAAGGAGGGAGGGAAGGGAGGAAGGG AGGAGGGAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0026 a0002c0001t0026	a0002c0001t0026g0012 a0002c0001t0026g0012	1	62	0.0161	809	c.88+ others(828): Show c.88+121542_88+121543insTTTCCCTCCTCCCTTCCTCCCTTCCC TCCCTCCTTCCTACCTCCCTTCCCTCCTTCTTCCCTTCCTTCCTTCCCTC CCTCCTGAAGTTAGCTTCTGAAGTTAGCTTCCCTCCCTTCTTCCTGAAGT TAGTTTCTGAGCAGCTTTGCTTGCTTGCTTGCTTCCTTCCTTCCTCCCTC CCTCCCCCTTCCTCCCTCCCTCTCCCCCTTCCTTTCCTCCTCTCCCCCCT TCCTTTCCTCCTCTCCCCCCTTCCTTTCCTCCTCTCCCACCTTCCTTTCC TCCTCTCCCCCTTCCTTTCCTCCTCTCCCCCTTCCTTCCCTCCTCTCCCC CTTCCTTCCCTCCTCTCCCCCTTCCTTCCCTCCTCTCCCCCCTTCCTTCC CTCCTCTCCCCACTTCCTTCCCTCCTCTCCCCCCTTCCTTCCCTCCTCTC CCCCCTTCCTTCCCTCCTCTCCCCCTTCCTTCCCTCCTCTCCCCCCTTCC TTCCCTCCTCTCCCCACTTCCTTCCCTCCTCTCCCCCCTTCCTTCCCTCC TCTCCCCCCTTCCTTCCCTCCTCTCCCCCTTCCTTCCCTCCTCTCCCCCT TCCTTCTCTCCTCTCCCCCCTTCCTTCCCTCCTCTCCCCCTTCCTTCCCT CCTCTCACCCCTTCCTTCCCTCCTCTCACCCCTTCCTTCCCTCCTCTCTG CCCTTCCTTCCTTCCCTCGTCTCTGCCCTTCCTTCCTTCCCTCCTCTCTG CCCTTCCTTCCTCCCCTCCCTCCCCTTCCTTCCTCCCCTCCCTCCCCTTC CTTCCTCCCCTCCCTCCCCTTCCTTCCTCCCTC	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(802): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATATGTAATACACAATATATATTATAT AATATGTAATACACAATATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CACAATATATTATATAATAATATGTAATACACAATATATTATATAATAAT ATGTAATACACAATATATTATATAATATGTAATACACAATATATTATATA ATATGTAATACACAATATATTATATAATAATATGTAATACACAATATATT ATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACAC AATATATTATATAATAATATGTAATACACAATATATTATATAATAATATG TAATACACAATATATTATATAATAATATGTAATACATTATACATTATTAT ATAAGTATATGTAATACATTATACATTATTATATAAGTATATGTAATATA TATTATACATTATTATATAAGTATATGTAATATATATTATACATTATTAT ATAAGCATATAATATATAATACATAATACATTATATATAAGCATATAACA ATACATAATA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	220	0.0046	809	c.24+ others(826): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATATGT AATACACAATATATATTATATAATATGTAATACACAATATATATTATATA ATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CACAATATATTATATAATAATATGTAATACACAATATATTATATAATATG TAATACACAATATATTATATAATATGTAATACACAATATATTATATAATA ATATGTAATACACAATATATTATATAATAATATGTAATACACAATATATT ATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACAC AATATATTATATAATAATATGTAATACACAATATATTATATAATAATATG TAATACATTATACATTATTATATAAGTATATGTAATACATTATACATTAT TATATAAGTATATGTAATATATATTATACATTATTATATAAGTATATGTA ATATATATTATACATTATTATATAAGCATATAATATATAATACATAATAC ATTATATATAAGCATATAACAATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar

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Search Results (Total: 7053 hits)