Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NFATC1_chr18_79390930_79534323	79494279	C C	CGCCGGGG others(1049): Show CGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACGG CCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTACCGCC GGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTACCGCCGG GGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTACCGCCGGGG GAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGGCCGGGGGA AGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTACCGCCGGGGGAAG GCGAGAGCGGGCACACGCCCCCCATCGACCTGGTACCGCCGGGGGAAGGC GAGAGCGGGCACACGCCCCCCATGAACCTGGTACCGCCGGGGGAAGGCGA GAGCGGGCACACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGA GCGGGCACACGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAAC GGGCACATGCCCCCCATCAACCTGGTACCGCCGGGGGAAGGCGAGAGCGG GCACACGCCCCCCATCAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGC ACACGCCCCCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCAC ACGCCCCCCATCGACCTGGTGCGGCCGGGGGAAGGCGAGAGGGGGCACAC GCCCCCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGC CCCCCATCAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCC CCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCC CATGAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCA TGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATG AACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGA CCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACC TGGTGCG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0048 a0001c0006t0048	a0001c0006t0048g0049 a0001c0006t0048g0049	1	322	0.0031	1056	c.278 others(1075): Show c.2782+7618_2782+7619insCGACCTGGTACCGCCGGGGGAAGGCG AGAGCGGGCACACGCCCCCCATCGACCTGGTACCGCCGGGGGAAGGCGAG AGCGGGCACACGCCCCCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAG CGGGCACACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCG GGCACACGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAACGGG CACATGCCCCCCATCAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCA CACGCCCCCCATCAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACA CGCCCCCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACG CCCCCCATCGACCTGGTGCGGCCGGGGGAAGGCGAGAGGGGGCACACGCC CCCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCC CCATCAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCC ATGAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCAT GAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGA ACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAAC CTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCT GGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGG TGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTA CGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTACC GCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTACCGC CGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTACCGCCG GGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGGCCGGG GGAAGGCGAGAGCGGGCACACGCCCCCCAT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NOC4L_chr12_132139457_132157468	132150219	C C	CGCCGCCT others(1049): Show CGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCATACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCATACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCC TACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCATACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGT GAGTGCG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	294	0.0034	1056	c.902 others(1071): Show c.902-754_902-753insACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCACTCATACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTC ATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC CCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGC TCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCATAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCGGC CGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTC GCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCGGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150448	G G	GCTCACAC others(1049): Show GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCC TAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCG CCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCTACCACACCCCTAAT CCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0117 a0003c0008t0001g0117	1	294	0.0034	1056	c.902 others(1071): Show c.902-490_902-489insACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCG CCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACC CCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGC CGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTC ACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
OPRPN_chr4_70392940_70415195	70413191	A A	ATGTATAT others(1049): Show ATGTATATATATGTGTGTATATATACATATATGTATATGTATATGTGTAT ATATGCATATATGTATATGTATATGTGTATATATGCATATATGTATATGC ATATGTGTATATATGCATATATGTATATGCATATGTGTGTATATATACAT ATATATGTATATGCATATGTGTGTATATATACATATATATGTATATGCAT ATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATAC ATATATATGTATATGCATATGTGTGTATATATACATATATATGTATATGC ATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATAT ACATATATATGTATATGCATATGTGTGTATATATACATATATATGTATAT GCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATAT ATACATATATGTATATGCATATGTGTGTATATATACATATATATGTATAT GCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATAT ATACATATATATGTATATGCATATGTGTGTATATATACATATATATGTAT ATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTAT ATATACATATATATGTATATGCATATGTGTGTATATATACATATATATGT ATATGCATATGTGTGTATATATACATATATGTATATGCATATGTGTGTAT ATATACATATATATGTATATGCATATGTGTGTATATATACATATATATGT ATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGT ATATATACACATATACATATATATGCATATGTGTGTATATATACATATAC ATATATATGCATATATGTGTATACATATACATATATATGCATATATGTGT ATATATACACATATATATGTGTGTGTATATATATGTGTGTGTATATATAC ACATATATATGTGTGTGTATATATATGTGTGTGTATATATACACATATAT ATGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19060.hp1 NA19078.hp2 NA19002.hp2 NA19060.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	3	456	0.0066	1056	c.31 others(1067): Show c.3116_*3117insTGTATATATATGTGTGTATATATACATATATGTA TATGTATATGTGTATATATGCATATATGTATATGTATATGTGTATATATG CATATATGTATATGCATATGTGTATATATGCATATATGTATATGCATATG TGTGTATATATACATATATATGTATATGCATATGTGTGTATATATACATA TATATGTATATGCATATGTGTGTATATATACATATATATGTATATGCATA TGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATACA TATATATGTATATGCATATGTGTGTATATATACATATATATGTATATGCA TATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATA CATATATATGTATATGCATATGTGTGTATATATACATATATATGTATATG CATATGTGTGTATATATACATATATGTATATGCATATGTGTGTATATATA CATATATATGTATATGCATATGTGTGTATATATACATATATATGTATATG CATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATA TACATATATATGTATATGCATATGTGTGTATATATACATATATATGTATA TGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATA TATACATATATATGTATATGCATATGTGTGTATATATACATATATGTATA TGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATA TATACATATATATGTATATGCATATGTGTGTATATATACATATATATGTA TATGCATATGTGTGTATATATACACATATACATATATATGCATATGTGTG TATATATACATATACATATATATGCATATATGTGTATACATATACATATA TATGCATATATGTGTATATATACACATATATATGTGTGTGTATATATATG TGTGTGTATATATACACATATATATGTGTGTGTATATATATGTGTGTGTA TATATACACATATATATGTGTG	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		2997		chr4	TogoVar
OPRPN_chr4_70392940_70415195	70413203	G G	GTGTGTAT others(1049): Show GTGTGTATATATACATATATGTATATGTATATGTGTATATATGCATATAT GTATATGTATATGTGTATATATGCATATATGTATATGCATATGTGTGTAT ATATACATATATATGTATATGCATATGTGTGTATATATACATATATATGT ATATGCATATGTGTGTATATACACATATATATGTATATGCATATGTGTGT ATATACACATATATATGTATATGCATATGTGTGTATATACACATATATAT GTATATGCATATGTGTGTATATACACATATATATGTATATGCATATGTGT ATATATACATATATATGTATATGCATATGTGTGTATATATACATATATAT GTATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGT GTATATATACATATATATGTATATGCATATGGGTATATATACATATATAT GTATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGT GTATATATACATATATATGTATATGCATATGTGTGTATATATACATATAT ATGTATATGCATATGTGTGTATATATACATATATATGTATATGCATATGT GTGTATATATACATATATGTATATGCATATGTGTGTATATATACATATAT ATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGT AAATATACATATATATGTATATGCATATGTGTGTATATATACATATATAT GTATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGT GTATATATACATATATATGTATATGCATATGTGTGTATATATACACATAT ACATATATATGCATATGTGTGTATATATACACATATACATATATATGCAT ATGTGTGTATATATACATATACATATATATGCATATATATGTATACATAT ACATATATATGCATATATGTGTATACATATACATATATATGTGTGTGTAT ATATATGTGTGTGTATATATACACATATATATGTGTGTGTATATATACAC ATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp1 NA18990.hp1 NA18963.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	456	0.0044	1056	c.31 others(1067): Show c.3128_*3129insTGTGTATATATACATATATGTATATGTATATGTG TATATATGCATATATGTATATGTATATGTGTATATATGCATATATGTATA TGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATA TATACATATATATGTATATGCATATGTGTGTATATACACATATATATGTA TATGCATATGTGTGTATATACACATATATATGTATATGCATATGTGTGTA TATACACATATATATGTATATGCATATGTGTGTATATACACATATATATG TATATGCATATGTGTATATATACATATATATGTATATGCATATGTGTGTA TATATACATATATATGTATATGCATATGTGTGTATATATACATATATATG TATATGCATATGTGTGTATATATACATATATATGTATATGCATATGGGTA TATATACATATATATGTATATGCATATGTGTGTATATATACATATATATG TATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTG TATATATACATATATATGTATATGCATATGTGTGTATATATACATATATA TGTATATGCATATGTGTGTATATATACATATATGTATATGCATATGTGTG TATATATACATATATATATGCATATGTGTGTATATATACATATATATGTA TATGCATATGTGTGTAAATATACATATATATGTATATGCATATGTGTGTA TATATACATATATATGTATATGCATATGTGTGTATATATACATATATATG TATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTG TATATATACACATATACATATATATGCATATGTGTGTATATATACACATA TACATATATATGCATATGTGTGTATATATACATATACATATATATGCATA TATATGTATACATATACATATATATGCATATATGTGTATACATATACATA TATATGTGTGTGTATATATATGTGTGTGTATATATACACATATATATGTG TGTGTATATATACACATATATA	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		3009		chr4	TogoVar
OPRPN_chr4_70392940_70415195	70413203	G G	GTGTGTAT others(1049): Show GTGTGTATATATACATATATGTATATGTATATGTGTATATATGCATATAT GTATATGTATATGTGTATATATGCATATATGTATATGCATATGTGTGTAT ATATACATATATATGTATATGCATATGTGTGTATATATACATATATATGT ATATGCATATGTGTGTATATACACATATATATGTATATGCATATGTGTGT ATATACACATATATATGTATATGCATATGTGTGTATATACACATATATAT GTATATGCATATGTGTGTATATACACATATATATGTATATGCATATGTGT ATATATACATATATATGTATATGCATATGTGTGTATATATACATATATAT GTATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGT GTATATATACATATATATGTATATGCATATGTGTATATATACATATATAT GTATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGT GTATATATACATATATATGTATATGCATATGTGTGTATATATACATATAT ATGTATATGCATATGTGTGTATATATACATATATATGTATATGCATATGT GTGTATATATACATATATGTATATGCATATGTGTGTATATATACATATAT ATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGT AAATATACATATATATGTATATGCATATGTGTGTATATATACATATATAT GTATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGT GTATATATACATATATATGTATATGCATATGTGTGTATATATACACATAT ACATATATATGCATATGTGTGTATATATACACATATACATATATATGCAT ATGTGTGTATATATACATATACATATATATGCATATATATGTATACATAT ACATATATATGCATATATGTGTATACATATACATATATATGTGTGTGTAT ATATATGTGTGTGTATATATACACATATATATGTGTGTGTATATATACAC ATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	456	0.0022	1056	c.31 others(1067): Show c.3128_*3129insTGTGTATATATACATATATGTATATGTATATGTG TATATATGCATATATGTATATGTATATGTGTATATATGCATATATGTATA TGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATA TATACATATATATGTATATGCATATGTGTGTATATACACATATATATGTA TATGCATATGTGTGTATATACACATATATATGTATATGCATATGTGTGTA TATACACATATATATGTATATGCATATGTGTGTATATACACATATATATG TATATGCATATGTGTATATATACATATATATGTATATGCATATGTGTGTA TATATACATATATATGTATATGCATATGTGTGTATATATACATATATATG TATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTA TATATACATATATATGTATATGCATATGTGTGTATATATACATATATATG TATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTG TATATATACATATATATGTATATGCATATGTGTGTATATATACATATATA TGTATATGCATATGTGTGTATATATACATATATGTATATGCATATGTGTG TATATATACATATATATATGCATATGTGTGTATATATACATATATATGTA TATGCATATGTGTGTAAATATACATATATATGTATATGCATATGTGTGTA TATATACATATATATGTATATGCATATGTGTGTATATATACATATATATG TATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTG TATATATACACATATACATATATATGCATATGTGTGTATATATACACATA TACATATATATGCATATGTGTGTATATATACATATACATATATATGCATA TATATGTATACATATACATATATATGCATATATGTGTATACATATACATA TATATGTGTGTGTATATATATGTGTGTGTATATATACACATATATATGTG TGTGTATATATACACATATATA	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		3009		chr4	TogoVar
OPRPN_chr4_70392940_70415195	70413203	G G	GTGTGTAT others(1049): Show GTGTGTATATATGCATATATGTATATGTATATGTGTATATATGCATATAT GTATATGTATATGTGTATATATGCATATATGTATATGCATATGTGTGTAT ATATACATATATATGTATATGCATATGTGTGTATATATACATATATATGT ATATGCATATGTGTGTATATACACATATATATGTATATGCATATGTGTGT ATATACACATATATATGTATATGCATATGTGTGTATATACACATATATAT GTATATGCATATGTGTGTATATACACATATATATGTATATGCATATGTGT ATATATACATATATATGTATATGCATATGTGTGTATATATACATATATAT GTATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGT GTATATATACATATATATGTATATGCATATGTGTATATATACATATATAT GTATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGT GTATATATACATATATATGTATATGCATATGTGTGTATATATACATATAT ATGTATATGCATATGTGTGTATATATACATATATATGTATATGCATATGT GTGTATATATACATATATGTATATGCATATGTGTGTATATATACATATAT ATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGT AAATATACATATATATGTATATGCATATGTGTGTATATATACATATATAT GTATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGT GTATATATACATATATATGTATATGCATATGTGTGTATATATACACATAT ACATATATATGCATATGTGTGTATATATACACATATACATATATATGCAT ATGTGTGTATATATACATATACATATATATGCATATATATGTATACATAT ACATATATATGCATATATGTGTATACATATACATATATATGTGTGTGTAT ATATATGTGTGTGTATATATACACATATATATGTGTGTGTATATATACAC ATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19056.hp2 NA19082.hp1 NA19011.hp1 NA19056.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	3	456	0.0066	1056	c.31 others(1067): Show c.3128_*3129insTGTGTATATATGCATATATGTATATGTATATGTG TATATATGCATATATGTATATGTATATGTGTATATATGCATATATGTATA TGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATA TATACATATATATGTATATGCATATGTGTGTATATACACATATATATGTA TATGCATATGTGTGTATATACACATATATATGTATATGCATATGTGTGTA TATACACATATATATGTATATGCATATGTGTGTATATACACATATATATG TATATGCATATGTGTATATATACATATATATGTATATGCATATGTGTGTA TATATACATATATATGTATATGCATATGTGTGTATATATACATATATATG TATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTA TATATACATATATATGTATATGCATATGTGTGTATATATACATATATATG TATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTG TATATATACATATATATGTATATGCATATGTGTGTATATATACATATATA TGTATATGCATATGTGTGTATATATACATATATGTATATGCATATGTGTG TATATATACATATATATATGCATATGTGTGTATATATACATATATATGTA TATGCATATGTGTGTAAATATACATATATATGTATATGCATATGTGTGTA TATATACATATATATGTATATGCATATGTGTGTATATATACATATATATG TATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTG TATATATACACATATACATATATATGCATATGTGTGTATATATACACATA TACATATATATGCATATGTGTGTATATATACATATACATATATATGCATA TATATGTATACATATACATATATATGCATATATGTGTATACATATACATA TATATGTGTGTGTATATATATGTGTGTGTATATATACACATATATATGTG TGTGTATATATACACATATATA	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		3009		chr4	TogoVar
PCBP3_chr21_45638725_45947450	45925128	A A	ATCGGGTG others(1049): Show ATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAA ACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAAC AGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGA TGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCG GGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAG TCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG CGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAG CACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTC GAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCG AACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCA CACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGA GTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAA CACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGCAAACACTGGGAACAGTCGAGTGGATAGAAACAGCACA CGTAAGG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0047 a0001c0002t0006g0047	1	292	0.0034	1056	c.718 others(1073): Show c.718-4779_718-4778insACGAGGAGATGTGAACACCGGGAACAGT CGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGC GAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGT GTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGC ACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCG AGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGA ACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCAC ACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGCG TGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAAC ACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGC ACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTG GATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACAC CGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGT AAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGA TAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCG GGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGA GGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAA GATCGGGTGTGCACGAGGAGATGCAAACACTGGGAACAGTCGAGTGGATA GAAACAGCACACGTAAGGTCGGGTGTGC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PKHD1_chr6_51610299_52092613	51982182	A A	AGGTGGGG others(1049): Show AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT GAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTTGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAG CCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCT GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGG GAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC CGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCGCCC GCCTGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCG GGAGGAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0020 a0020	a0020c0050 a0020c0050	a0020c0050t0001 a0020c0050t0001	a0020c0050t0001g0023 a0020c0050t0001g0023	1	134	0.0075	1056	c.575 others(1077): Show c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGCGGCTGACCCCCCC ACCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGG CCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCAGACTGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTG GGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC AACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCCACC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PPP1R14C_chr6_150138044_150255392	150197859	C C	CCCTGGCC others(1049): Show CCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCC CTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCT GGCCGCCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCGCCTGG CCGCCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGCC GCCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGCCGC CACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCGCCTGGCCGCCA CGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGGCGCCACG GTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGCCGCCACGGT GGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGCCCGTCACGGTGG AGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGCCGCCACGGTGGAG GAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGA GGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGG GCCTGGATGCCCGGCTTTGTGTGCGCCTGGCCGCCACGGTGGAGGAGGGC CTGGATGCCCGGCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCT GGATGCCCGGCTTTGTGTGCGCCTGGCCGCCACGGTGGAGGAGGGCCTGG ATGCCCGGCTTTGTGTGCCCCTGCCCGTCACGGTGGAGGAGGGCCTGGAT GCCCGGCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGC CCGGCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCC GGCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCGG CTTTGTGTGCGCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCTGGCT TTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCGGCTTT GTGTGCG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01516.hp1 HG01517.hp2 HG01167.hp2 HG01516.hp1 HG01517.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0190 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0190 a0002c0002t0001g0220 a0002c0002t0001g0221	3	312	0.0096	1056	c.307 others(1075): Show c.307-16881_307-16880insGCCGCCACGGTGGAGGAGGGCCTGGA TGCCCGGCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATG CCCGGCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCC CGGCTTTGTGTGCGCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCG GCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCGGC TTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCGGCTT TGTGTGCGCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTG TGTGCCCCTGGGCGCCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTG TGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTG CCCCTGCCCGTCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCC CCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCC TGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTG GCCGCCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCGCCTGGC CGCCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGCCG CCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCGCCTGGCCGCC ACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGCCCGTCAC GGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGCCGCCACGG TGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGCCGCCACGGTG GAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGCCGCCACGGTGGA GGAGGGCCTGGATGCCCGGCTTTGTGTGCGCCTGGCCGCCACGGTGGAGG AGGGCCTGGATGCCTGGCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAG GGCCTGGATGCCCGGCTTTGTGTGCGCCTG	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP6R2_chr22_50338327_50450090	50397980	C C	CCTGTCCT others(1049): Show CCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGA CTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGA GCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCT CACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGAT GGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCT CTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCC TTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAG GGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAG TGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATC TCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCT GTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTG GGATGGGGGCAGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTT TCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACAG CCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGC AGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTCTCTGAGAG TGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCATGCCTTGTCAT CTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGATGGGGGCGGGGGGGCCT GTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTT GGGATGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTT TTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGTCTGTCCTCACC AGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGG GCAGGGG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0012 a0002c0004t0012	a0002c0004t0012g0230 a0002c0004t0012g0230	1	340	0.0029	1056	c.227 others(1073): Show c.227+3869_227+3870insCTGAGCTTTTCTCTGAGGAGTGTGACTT GGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCT TTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCAC CAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGG GGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTG AGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTG TCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGG GGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCT GAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTC CTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTGGGA TGGGGGCAGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCT CTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACAGCCC TGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGG GGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTCTCTGAGAGTGT GACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCATGCCTTGTCATCTC TGAGCTTTTCTCTGAGGAGTGTGACTTGGATGGGGGCGGGGGGGCCTGTC CTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGG ATGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTC TCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGTCTGTCCTCACCAGC CTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCA GGGGCTGTCCTCACCAGCCCTGTCATCT	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
RGN_chrX_47073443_47098313	47089400	A A	AATATATT others(1049): Show AATATATTTATATTATATAATTATAATATTAATATAATATATTTATATTA TATAATTATAATATTAATATAATATATTTATATTATATAATTATAATTAT ATAATATATTTATATTATATAAATATAATATAATTATATAATATATTTAT ATTATATAAATATAATATAATTATATAATATAATTATATTATATAAATAT AATATAATTATATAATTATATTATATAAATATAATATAATTATATAATTA TATTATATAAATATAATATAATTATATAATTATATAATATAATTATATTA TATAAATATAATAATATAATATAATTATATAAATATAATAATATAATATA ATTATATAAATATAATAATATAATATAATAATATAATATAATATAATTAT ATTTTTATATAATATAATTATATTATATAATTATATAATATAATATAATT ATATTATGTAATTATATAATATAATATAATTATATTATATTATATAATTA CATAATATAATATAATTATATTATATAATTATATAATATAATATAATATA ATTATATTATATAATTATATAATAAATATAATATAATTATATTATATAAT TATATTATAAATATAATATAATTATATTATATAATTATATTATAAATATA ATATAATTATATTATATAATTATATTATAAATATAATATAATTATATTAT ATAATTATATAATAAATATAATATAATTATATTATATAATTATATAATAA ATATAATATAATTATATTATATAATTATATAATAAATATAATATAATTAT ATTATATAATTATATAATAATATAATATAATTATATTATATTATTATATA ATAAATATAATATAATTATATTATATAATTATATAATAAATATAATATAA TTATATTATATAATATGATATAATATAATATAATATAATATAATATAATT ATATTATATAATTATATAATATAATATAATATAATTATATTATATGATTA TATATAATTACATAATATAATATAATATAATTATATTATATGATTATATA TAATTAC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	304	0.0033	1056	c.347 others(1071): Show c.347-370_347-369insTTATATTATATAATTATAATATTAATATAA TATATTTATATTATATAATTATAATATTAATATAATATATTTATATTATA TAATTATAATTATATAATATATTTATATTATATAAATATAATATAATTAT ATAATATATTTATATTATATAAATATAATATAATTATATAATATAATTAT ATTATATAAATATAATATAATTATATAATTATATTATATAAATATAATAT AATTATATAATTATATTATATAAATATAATATAATTATATAATTATATAA TATAATTATATTATATAAATATAATAATATAATATAATTATATAAATATA ATAATATAATATAATTATATAAATATAATAATATAATATAATAATATAAT ATAATATAATTATATTTTTATATAATATAATTATATTATATAATTATATA ATATAATATAATTATATTATGTAATTATATAATATAATATAATTATATTA TATTATATAATTACATAATATAATATAATTATATTATATAATTATATAAT ATAATATAATATAATTATATTATATAATTATATAATAAATATAATATAAT TATATTATATAATTATATTATAAATATAATATAATTATATTATATAATTA TATTATAAATATAATATAATTATATTATATAATTATATTATAAATATAAT ATAATTATATTATATAATTATATAATAAATATAATATAATTATATTATAT AATTATATAATAAATATAATATAATTATATTATATAATTATATAATAAAT ATAATATAATTATATTATATAATTATATAATAATATAATATAATTATATT ATATTATTATATAATAAATATAATATAATTATATTATATAATTATATAAT AAATATAATATAATTATATTATATAATATGATATAATATAATATAATATA ATATAATATAATTATATTATATAATTATATAATATAATATAATATAATTA TATTATATGATTATATATAATTACATAATATAATATAATATAATTATATT ATATGATTATATATAATTACATATAT	RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding	4/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
RPH3AL_chr17_207389_357807	356508	G G	GCGCACCA others(1049): Show GCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACAC ACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGT CGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAG GCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCA CCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACA CACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCT CCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAG TCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACA GGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGC ACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACAC ACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGA CCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCAC ACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACA GTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCAC AGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCG CACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACA CACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGC CTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCG ACCGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0084 a0001c0001t0003g0084	1	133	0.0075	1056	c.-40 others(1067): Show c.-4010_-4009insGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGT GTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGG TCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGA GGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGT GTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGT GCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCC TGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGA CTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTG TGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCG GTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG AGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG TGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGG TGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGC CTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTG GAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGT GTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTG GTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCG CCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGC GACTGTGTGTGTGTGTGGTGCG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3702		chr17	TogoVar
SNRNP35_chr12_123453139_123471936	123453160	A A	ATATATAT others(1049): Show ATATATATATAAATATATATAAATATATATAAATATATATATAAATATAT ATAAATATATATAAATATATATATAAATATATATAAATATATATAAATAT ATATATAAATATATATAAATATATATAAATATATATATAAATATATATAA ATATATATAAATATATATATAAATATATATAAATATATATAAATATATAA ATATATATAAATATATATATAAATATATATAAATATATATAAATATATAT ATAAATATATATAAATATATATATAAATATATATAAATATATATAAATAT ATATATAAATATATATACATATATATAAATATATATAAATATATATACAT ATATAAATATATAAAAAATATATAAATATATAAAAAATATATAAATATAT AAAAATATATATAAATATATATAAATATATATACATATATATACATATAT ATAAATATATAAAAATATATAAATATATATAAATATAAATATATACAAAT ATATATATAAATATGTATAAATATATAAAAATATATATATAAATATATAA AAATATATATATTAATATATAAAAATATATATATTAATATATAAAAATAT ATATAAATATATATATAAATATATATATAAATATATATAAAAATATATAT AAAAATATATATAAATATATATATAAATATATATAAATATATATAAATAT ATATAAATATATATAAATATATATAAATATATATAAATATATATATAAAT ATATATAAATATATATATAAATATATATAAACATATATAAATATATATAA AAATATATATAAATATATATAAATATATATAAATATATATAAAAATATAT ATAAATATATATATAAATATATATAAATATATATATAAATATATATAAAT ATATATAAATATATAAAAAATATATATAAATATATAAATATATATATATA AATATATATAAATATATAAAAAAAATATATATAAATATATATAAATATAT TTATATATATAAATATATTTATATATAAATATAAATATATATAAATATAT ATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	186	0.0054	1056	c.-50 others(1067): Show c.-5060_-5059insTATATATATAAATATATATAAATATATATAAATA TATATATAAATATATATAAATATATATAAATATATATATAAATATATATA AATATATATAAATATATATATAAATATATATAAATATATATAAATATATA TATAAATATATATAAATATATATAAATATATATATAAATATATATAAATA TATATAAATATATAAATATATATAAATATATATATAAATATATATAAATA TATATAAATATATATATAAATATATATAAATATATATATAAATATATATA AATATATATAAATATATATATAAATATATATACATATATATAAATATATA TAAATATATATACATATATAAATATATAAAAAATATATAAATATATAAAA AATATATAAATATATAAAAATATATATAAATATATATAAATATATATACA TATATATACATATATATAAATATATAAAAATATATAAATATATATAAATA TAAATATATACAAATATATATATAAATATGTATAAATATATAAAAATATA TATATAAATATATAAAAATATATATATTAATATATAAAAATATATATATT AATATATAAAAATATATATAAATATATATATAAATATATATATAAATATA TATAAAAATATATATAAAAATATATATAAATATATATATAAATATATATA AATATATATAAATATATATAAATATATATAAATATATATAAATATATATA AATATATATATAAATATATATAAATATATATATAAATATATATAAACATA TATAAATATATATAAAAATATATATAAATATATATAAATATATATAAATA TATATAAAAATATATATAAATATATATATAAATATATATAAATATATATA TAAATATATATAAATATATATAAATATATAAAAAATATATATAAATATAT AAATATATATATATAAATATATATAAATATATAAAAAAAATATATATAAA TATATATAAATATATTTATATATATAAATATATTTATATATAAATATAAA TATATATAAATATATATATATT	SNRNP35	ENSG00000184209.15	transcript	ENST00000526639.3	protein_coding		4978		chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747263	T T	TGGGAGGC others(1049): Show TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAAAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGC ACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0068 a0002c0002t0068	a0002c0002t0068g0231 a0002c0002t0068g0231	1	314	0.0032	1056	c.189 others(1073): Show c.189-1044_189-1043insTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAAAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747993	T T	TGGGAGGC others(1049): Show TGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGAT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGC	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0293 a0002c0002t0008g0293	1	314	0.0032	1056	c.189 others(1071): Show c.189-312_189-311insCGGGAGTCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGATAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM255B_chr13_113754226_113821995	113817317	T T	TCCTCCCC others(1049): Show TCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCC CTCCCCCCACGGGACACATCCCTCCTCCCCCCACGGGACACATACCCCCT CCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCC CCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCT CCAGGGAACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCC ACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAG GGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGG GACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGA CACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCAGGGGACA CATACCCCCTCCCTCCAGGGGACACATACCCCCTCCCTCCAGGGGACACA TCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATC CCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACC CCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCC CTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCT CCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCC CCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCT CCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCC AGGGGACACATCCCCCCTCCCTCCACGGGACACATCCCCCCTCCCTCCAC GGGACACATCCCCCCTCCCTCCAGGGAACACATCCCCCCTCCCTCCAGGG GGCACATCCCCCCTCCCTCCACGGGGCACATCACCCCTCCCTCCAGGGGG CACATCCCTCCTCCCTCCAGGGCGCACATCCCCCCTCCCTCCAGGGGACA CATCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01346.hp2 HG01496.hp2 others(2): Show HG00738.hp2 HG01346.hp2 HG01496.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0024 a0001c0001t0153 others(1): Show a0001c0001t0002 a0001c0001t0024 a0001c0001t0153 a0001c0001t0156	a0001c0001t0002g0076 a0001c0001t0002g0087 a0001c0001t0024g0132 others(2): Show a0001c0001t0002g0076 a0001c0001t0002g0087 a0001c0001t0024g0132 a0001c0001t0153g0008 a0001c0001t0156g0075	5	260	0.0192	1056	c.54 others(1067): Show c.5414_*5415insCCTCCCCCCACGGGACACATCCCCCCTCCCCCCA CGGGACACATACCCCCTCCCCCCACGGGACACATCCCTCCTCCCCCCACG GGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGG ACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGAC ACATCCCCCCTCCCTCCAGGGAACACATCCCCCCTCCCTCCTCGGGACAC ATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACAT CCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCC CCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCC CCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCC TCCCCCCAGGGGACACATACCCCCTCCCTCCAGGGGACACATACCCCCTC CCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCC TCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCC CACGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCT CGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACG GGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGG ACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGAC ACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCAC ATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCACGGGACACAT CCCCCCTCCCTCCACGGGACACATCCCCCCTCCCTCCAGGGAACACATCC CCCCTCCCTCCAGGGGGCACATCCCCCCTCCCTCCACGGGGCACATCACC CCTCCCTCCAGGGGGCACATCCCTCCTCCCTCCAGGGCGCACATCCCCCC TCCCTCCAGGGGACACATCCCC	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding		323		chr13	TogoVar
TP53AIP1_chr11_128930370_128947871	128930739	G G	GCTGGGGT others(1049): Show GCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTG GGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGG TTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGG GAGGCTGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAG GCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCGGGGTTAGGGAGACCAA GGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGT TAGAGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGG AAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAG GCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAG GGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGGAGGCCGGGGTT AGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCAGGGGTTAG GGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAG GCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCAGGGATTATGGAGGCAGG GATTAGGGAGGCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTA GGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGA GGCTGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGC CGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGG TTATGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGG GAGGCAGGGATTATGGAGGCAGGGATTAGGGAGGCAGGGATTAGGGAGGC CGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGG TTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGACCAAGGGTCA GGGAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	466	0.0022	1056	c.48 others(1067): Show c.4851_*4852insGCCTCCCTGACCCTTGGTCTCCCTAACCCCAGCC TCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCC TAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGCCTCCCTAATC CCTGCCTCCATAATCCCTGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCAGCCTCCATAACCCCGGCCTCCCTAACCCCGGCCTCCC TAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTGAC CCTTGGTCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCC GGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCT CCCTAATCCCTGCCTCCCTAATCCCTGCCTCCATAATCCCTGCCTCCCTA ACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCC TGGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCTGG CCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCCAGCCT CCCTACCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCGGCCTCCCTA ACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTGACCC TTGGTCTCCCTAACCCCGGCCTTCCTAACCCCCAGCCTCCCTACCCTGGC CTCCCTAACCCCTGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCC CTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCTCTA ACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCC TTGGTCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCC CTGACCCTTGGTCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAA CCCCTGGCCTCCCTAACCCCAG	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4630		chr11	TogoVar
TRIP13_chr5_887884_923120	898929	T T	TCAGTCAG others(1049): Show TCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTAGCAGGCC AAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGA TGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGA AACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGC AGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAA GCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATG GGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAA CAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAG TCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGC CCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGG CTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACA GGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTC AGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCC AGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCT CTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGG TGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAG TGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAG GGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCT GGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTG GATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTG TGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGG CTTCATG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	402	0.0025	1056	c.389 others(1073): Show c.389-1524_389-1523insAGCAGGCCAAGCCCAGGGCTTCATTCAG TCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGC CCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGG CTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACA GGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTC AGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCC AGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCT CTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGG TGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAG TGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAG GGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCT GGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTG GATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTG TGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGG CTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGG CAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGA TTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTG TGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCT TCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCA GGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATT TGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTG GGGAAACAGGTGGATTTGGATGGGCTCT	TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACTATA others(1050): Show GTACTATATATATTTTATATATAGTATGTACATTGTATATACTATATATA TATTTTATGTATAGTATGTACATTGTATATACTATATATATATTTTATGT ATATTATGTACTATATATATTTTATACATAGTATATACACTGTATATACT ATATATATTTTATACATAGTATATACACTGTATATACTATATATATTTTA TACATAGTATATACACTGTATATACTATATATATTTTATACATAGTATAT ACACTGTATATACTATATATATTTTATACATAGTATATACACTGTATATA CTATATATATTTTATACATAGTATATACACTGTATATACTATATATATTT TATACATAGTATATACACTGTATATACTATATATATTTTATACATAGTAT ATACACTGTATATACTATATATATTTTATACATAGTATATACACTGTATA TACTATATATATTTTATACATAGTATATACACTGTATATACTATATATAT TTTATACATAGTATATACACTGTATATACTATATATATTTTATACATAGT ATATACACTGTATATACTATATATATTTTATACATAGTATATACACTGTA TATACTATATATATTTTATACATAGTATATACACTGTATATACTATATAT ATTTTATACATAGTATATACACTGTATATACTATATATATTTTATACATA GTATATACACTGTATATACTATATATATTTTATACATAGTATATACACTG TATATACTATATATATTTTATACATAGTATATACACTGTATATACTATAT ATATTTTATACATAGTATATACACTGTATATACTATATATATTTTATACA TAGTATATACACTGTATATACTATATATATTTTATACATAGTATATATAC TGTATATACTATATATATTTTATACATAGTATATATACTGTATATACTAT ATATATTTTATATATAGTATATATACTGTATATACTATATATATTTTATA TATAGTATATATACTGTATATACTATATATATTTTATATATAGTATATAT ACTGTATA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	182	0.0055	1057	c.505 others(1076): Show c.505-41258_505-41257insTATACAGTATATATACTATATATAAA ATATATATAGTATATACAGTATATATACTATATATAAAATATATATAGTA TATACAGTATATATACTATATATAAAATATATATAGTATATACAGTATAT ATACTATGTATAAAATATATATAGTATATACAGTATATATACTATGTATA AAATATATATAGTATATACAGTGTATATACTATGTATAAAATATATATAG TATATACAGTGTATATACTATGTATAAAATATATATAGTATATACAGTGT ATATACTATGTATAAAATATATATAGTATATACAGTGTATATACTATGTA TAAAATATATATAGTATATACAGTGTATATACTATGTATAAAATATATAT AGTATATACAGTGTATATACTATGTATAAAATATATATAGTATATACAGT GTATATACTATGTATAAAATATATATAGTATATACAGTGTATATACTATG TATAAAATATATATAGTATATACAGTGTATATACTATGTATAAAATATAT ATAGTATATACAGTGTATATACTATGTATAAAATATATATAGTATATACA GTGTATATACTATGTATAAAATATATATAGTATATACAGTGTATATACTA TGTATAAAATATATATAGTATATACAGTGTATATACTATGTATAAAATAT ATATAGTATATACAGTGTATATACTATGTATAAAATATATATAGTATATA CAGTGTATATACTATGTATAAAATATATATAGTATATACAGTGTATATAC TATGTATAAAATATATATAGTATATACAGTGTATATACTATGTATAAAAT ATATATAGTATATACAGTGTATATACTATGTATAAAATATATATAGTATA TACAGTGTATATACTATGTATAAAATATATATAGTATATACAGTGTATAT ACTATGTATAAAATATATATAGTACATAATATACATAAAATATATATATA GTATATACAATGTACATACTATACATAAAATATATATATAGTATATACAA TGTACATACTATATATAAAATATATATAGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
AHRR_chr5_316714_443285	344423	A A	ATGTGTGA others(1050): Show ATGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTG TGTGTGCGCGGGGGGAGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGGC TGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGAGGCTG TGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGG GGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGT GTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTG TGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGT GTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGT GTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTG TGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTG GGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGG AGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGT GGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTG TGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGT GTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGT GTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGT GTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTG TGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGG GGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAG CTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGG GGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTG GGTGTGTG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01255.hp2 NA19060.hp1 HG01123.hp1 HG01255.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0054 a0001c0001t0005g0089 a0001c0001t0005g0094 a0001c0001t0005g0054 a0001c0001t0005g0089 a0001c0001t0005g0094	3	268	0.0112	1057	c.62+ others(1070): Show c.62+538_62+539insTGTGTGTGTGTGTGTGAGGCTGTGTGTGCGCG GGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGAGGCTGTGGGGGGCTGTG TGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGT GTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTG TGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTG TGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGT GTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGT GGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGG GAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTG TGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGT GTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTG TGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTG TGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGT GTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGT GTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGG GGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGA GCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTG GGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGT GGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTG TGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTG TGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGT GCGCGGGGGGAGCTGTGTGTGTGTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGAP18_chr6_129571132_129715177	129619468	G G	GGGGGAGG others(1050): Show GGGGGAGGGGAGGAGGGAGAGGGAAAAAGGAGAGGAAAAAGGGGAGAGAA AAAAGGGGAGGGGAAACGGGAGGGGAAATGGGAGGCAAAAGGGGAGGGGA AGGGGAGGGGAAAGGGGAGGGGAAAGGGAGGAGAAACGGGAATGGAAGGG GAGGAGAAAGGGGAGGGGAAGGGGAGGGGAAAGAGAAGGGGGAAAACAGA GGAAGAGGATGAAGGGGAAGGGGGAAAACAGAGGGAGAGGATGAAGGGGA AGGGGGAGGTTGGAGGGGAGGGGGAGGTTGGAGGGGAGGGGGACGTGGAG GGGATGGGGAGGTGGAGGGGATGGGGAGGTGGAGGGGAGGGGGAGGCGAA GGGGGATGGGGAAGGGGGATGGGGGTGGGGAAGGGGGAGGGGGAGGGGAT GGGGAGGGGGGAGGGGAGGGGGATAGGGAAGGGGGATGGGGTGGGGAAGG GGGAGGGGAGGGGGAGGGGAAGGGGAAGAGGAGGGGAAGGGGAGGGGAAG GGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGTGGAAGGGGGATGGG GAAGGGGGAAGGGGGATGAGGAAGGGGGAAGGGGGATGGGGAAGGGGGAT AGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGG ATGGGGAAGGGGGATGGGGAAGGGGGGAAGGGGGATGGGGAAGGGGGATG GGGAAGGGGGAAGGTCGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGA AGGGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGAAGGTCGATG GGGAAGGGGGATGGGAAGGGGAGGGGAAGGGTGGAAGGGGGATGGGGAAG GGGAGGGGAAGGGTGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGA TGGGGAAGGGGGGCAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGG GGAAGGGGGATGGGGAAGAGGAGATGGGGAAGGGGGGATGGGGAAGGGAG ATGGGGAAGGGGAGGGGGAGGGGGAAGGGGGATGGGGAGGGGGAGGAGGA AGGGGGAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	238	0.0042	1057	c.787 others(1072): Show c.787-617_787-616insATCCCCCTTCCTCCTCCCCCTCCCCATCCC CCTTCCCCCTCCCCCTCCCCTTCCCCATCTCCCTTCCCCATCCCCCCTTC CCCATCTCCTCTTCCCCATCCCCCTTCCCCATCCCCCTTCCCCATCCCCC TTCCCCATCCCCCTGCCCCCCTTCCCCATCCCCCTTCCCCATCCCCCTTC CCCATCCCCCTTCCACCCTTCCCCTCCCCTTCCCCATCCCCCTTCCACCC TTCCCCTCCCCTTCCCATCCCCCTTCCCCATCGACCTTCCCCCTTCCCCA TCCCCCTTCCCCATCCCCCTTCCCCCCTTCCCCATCCCCCTTCCCCATCC CCCTTCCCCATCGACCTTCCCCCTTCCCCATCCCCCTTCCCCATCCCCCT TCCCCCCTTCCCCATCCCCCTTCCCCATCCCCCTTCCCCATCCCCCTTCC CCATCCCCCTTCCCCATCCCCCTTCCCTATCCCCCTTCCCCATCCCCCTT CCCCCTTCCTCATCCCCCTTCCCCCTTCCCCATCCCCCTTCCACCCTTCC CCTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCT CTTCCCCTTCCCCTCCCCCTCCCCTCCCCCTTCCCCACCCCATCCCCCTT CCCTATCCCCCTCCCCTCCCCCCTCCCCATCCCCTCCCCCTCCCCCTTCC CCACCCCCATCCCCCTTCCCCATCCCCCTTCGCCTCCCCCTCCCCTCCAC CTCCCCATCCCCTCCACCTCCCCATCCCCTCCACGTCCCCCTCCCCTCCA ACCTCCCCCTCCCCTCCAACCTCCCCCTTCCCCTTCATCCTCTCCCTCTG TTTTCCCCCTTCCCCTTCATCCTCTTCCTCTGTTTTCCCCCTTCTCTTTC CCCTCCCCTTCCCCTCCCCTTTCTCCTCCCCTTCCATTCCCGTTTCTCCT CCCTTTCCCCTCCCCTTTCCCCTCCCCTTCCCCTCCCCTTTTGCCTCCCA TTTCCCCTCCCGTTTCCCCTCCCCTTTTTTCTCTCCCCTTTTTCCTCTCC TTTTTCCCTCTCCCTCCTCCCCTCCCC	ARHGAP18	ENSG00000146376.11	transcript	ENST00000368149.3	protein_coding	5/14			chr6	TogoVar
ARHGAP18_chr6_129571132_129715177	129619468	G G	GGGGGAGG others(1050): Show GGGGGAGGGGAGGAGGGAGAGGGAAAAAGGAGAGGAAAAAGGGGAGAGAA AAAAGGGGAGGGGAAACGGGAGGGGAAATGGGAGGCAAAAGGGGAGGGGA AGGGGAGGGGAAAGGGGAGGGGAAAGGGAGGAGAAACGGGAATGGAAGGG GAGGAGAAAGGGGAGGGGAAGGGGAGGGGAAAGAGAAGGGGGAAAACAGA GGAAGAGGATGAAGGGGAAGGGGGAAAACAGAGGGAGAGGATGAAGGGGA AGGGGGAGGTTGGAGGGGAGGGGGAGGTTGGAGGGGAGGGGGACGTGGAG GGGATGGGGAGGTGGAGGGGATGGGGAGGTGGAGGGGAGGGGGAGGCGAA GGGGGATGGGGAAGGGGGATGGGGGTGGGGAAGGGGGAGGGGGAGGGGAT GGGGAGGGGGGAGGGGAGGGGGATAGGGAAGGGGGATGGGGTGGGGAAGG GGGAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGAAGGGGAGGGGAAG GGGAGGGGAAGGGTGGAAGGGGGATGGGGAAGGGGGAAGGGGGATGAGGA AGGGGGAAGGGGGATGGGGAAGGGGGATAGGGAAGGGGGATGGGGAAGGG GGATAGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGAAGG GGGATGGGGAAGGGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGAGGG AAGGTCGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGGAAG GGGGATGGGGAAGGGGGATGGGGAAGGGGGAAGGTCGATGGGGAAGGGGG ATGGGAAGGGGAGGGGAAGGGTGGAAGGGGGATGGGGAAGGGGAGGGGAA GGGTGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGG GGGCAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGG ATGGGGAAGGGAGATGGGGATGGGGAAGGGAGATGGGGAAGGGGAGGGGG AGGGGGAAGGGGAGGGGGAGGGGGAAGGGGGATGGGGAGGGGGAGGAGGA AGGGGGAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	238	0.0042	1057	c.787 others(1072): Show c.787-617_787-616insATCCCCCTTCCTCCTCCCCCTCCCCATCCC CCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTTCCCCATCTCC CTTCCCCATCCCCATCTCCCTTCCCCATCCCCCCTTCCCCATCCCCCTTC CCCATCCCCCTTCCCCATCCCCCTGCCCCCCTTCCCCATCCCCCTTCCCC ATCCCCCTTCCCCATCCCCCTTCCACCCTTCCCCTCCCCTTCCCCATCCC CCTTCCACCCTTCCCCTCCCCTTCCCATCCCCCTTCCCCATCGACCTTCC CCCTTCCCCATCCCCCTTCCCCATCCCCCTTCCCCCCTTCCCCATCCCCC TTCCCCATCCCCCTTCCCCATCGACCTTCCCTCTTCCCCATCCCCCTTCC CCATCCCCCTTCCCCCCTTCCCCATCCCCCTTCCCATCCCCCTTCCCCAT CCCCCTTCCCCATCCCCCTTCCCTATCCCCCTTCCCCATCCCCCTTCCCT ATCCCCCTTCCCCATCCCCCTTCCCCCTTCCTCATCCCCCTTCCCCCTTC CCCATCCCCCTTCCACCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCC CTTCCCCTTCCCCTCCCCCTCCCCTCCCCCTTCCCCACCCCATCCCCCTT CCCTATCCCCCTCCCCTCCCCCCTCCCCATCCCCTCCCCCTCCCCCTTCC CCACCCCCATCCCCCTTCCCCATCCCCCTTCGCCTCCCCCTCCCCTCCAC CTCCCCATCCCCTCCACCTCCCCATCCCCTCCACGTCCCCCTCCCCTCCA ACCTCCCCCTCCCCTCCAACCTCCCCCTTCCCCTTCATCCTCTCCCTCTG TTTTCCCCCTTCCCCTTCATCCTCTTCCTCTGTTTTCCCCCTTCTCTTTC CCCTCCCCTTCCCCTCCCCTTTCTCCTCCCCTTCCATTCCCGTTTCTCCT CCCTTTCCCCTCCCCTTTCCCCTCCCCTTCCCCTCCCCTTTTGCCTCCCA TTTCCCCTCCCGTTTCCCCTCCCCTTTTTTCTCTCCCCTTTTTCCTCTCC TTTTTCCCTCTCCCTCCTCCCCTCCCC	ARHGAP18	ENSG00000146376.11	transcript	ENST00000368149.3	protein_coding	5/14			chr6	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCT others(1050): Show TGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCTCCAC CCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC CGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCC CCGACGCGTGCGGCCCCCACCCCCGCAGCCCCGTCCGGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGT GCGGCCTCCACCCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAG GCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	391	0.0026	1057	c.36 others(1068): Show c.3604_*3605insGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGC AGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCCGCAGCCCCGTC CGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CGGGCCCCGACGCGTGCGGCCTCCACCCCCGCAGCCCCGTCCGGGCCCCG ACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCA GAGCCAGCCCCGTCCAGGCCCCCGACGCGTGCGTGCAGCCCCCACCCCGC AGCCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCC CGCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
C1RL_chr12_7089554_7114214	7113491	T T	TCCTGAAA others(1050): Show TCCTGAAAGGGGAAGGGGGCAGCACAACACGATTTTCAAAAATAAAACCA AAAATAAAGTCACTGGAGCACCCCCAACCTTGTTTGCCCAGCTAAGATTG GAAAGACCCATGCCTGGCCTAAGTTTATATGCAAGGACAAAAACTTCTTC ATTAATCATGTGGATTAAAGATGCCGATTAAAGGATCCATCCCCTCATTC TCTAATCCTGTCTGGCTCAGAAAGGACCATCTGGTCACAATTATAATTTC AGATACATTTATTTTGTAACTATCAAAGTTATTAAATAATATTAAAGAAG TTTTACTAAACAGAGAAACATGGTTTAAATCATCCACACAACCCCATACT CTAATAGGAAGCAGTTATTTTTAGATTTTTCTCTCACGGAGTGCTTTCTA TATTTGTAAACATAGTATCCTTACAATTTGGTAGCCTTGCTACCCTTTAC TTAGCATGCCAGGAATCCCCAGCTCCCCTTACCCTGCAACTTGGGGGCAC TTAACATAGAGCAGAGGTGGCCTATGCTCCTTTAGGGACACTCTGGGTAA GGGAAAGGGAACTGAAGTAAATGATTGAAGTGTTAGCAATAAGGTGACCC AACTGTCCTGGCGTGCTCGAGTAAAGGTAGCAACGCTACCAAATTGTAAG GATACTATGTTTACAAATATAGAAAGCACCGTGAGAAAAATCTAAAATAA CTGCTTCCTATTAGAGTATGGGGTTGTGGATGATTTAAACCATGTTTCTC TGTTTAGTAAAACTTCTTTAATATTATTTAATAACTTTGATAGTTACAAA ATAAATGTATCTGAAATTATAATTGTGACCAGATGGTCCTTTCTGAGCCA GACAGGATTAGAGAATGAGGGGATGGATCCTTTAATCGGCATCTTTAATC CACCATGATTAATGAAGAAGTTTTTGTCCTTGCATATAAACTTAGGCCAG GCATGGGTCTTCTCCAATCTTAGCTGGGCAAACAAGGTTGGGGTGCTCCA GTGACTTTATTTTTGGTTTTATTTTTGAAAAATCGTGTTGGTGCTGCCCC CTTCTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0133 a0002c0003t0006g0133	1	438	0.0023	1057	c.-43 others(1068): Show c.-4312_-4311insGACAGAAGGGGGCAGCACCAACACGATTTTTCAA AAATAAAACCAAAAATAAAGTCACTGGAGCACCCCAACCTTGTTTGCCCA GCTAAGATTGGAGAAGACCCATGCCTGGCCTAAGTTTATATGCAAGGACA AAAACTTCTTCATTAATCATGGTGGATTAAAGATGCCGATTAAAGGATCC ATCCCCTCATTCTCTAATCCTGTCTGGCTCAGAAAGGACCATCTGGTCAC AATTATAATTTCAGATACATTTATTTTGTAACTATCAAAGTTATTAAATA ATATTAAAGAAGTTTTACTAAACAGAGAAACATGGTTTAAATCATCCACA ACCCCATACTCTAATAGGAAGCAGTTATTTTAGATTTTTCTCACGGTGCT TTCTATATTTGTAAACATAGTATCCTTACAATTTGGTAGCGTTGCTACCT TTACTCGAGCACGCCAGGACAGTTGGGTCACCTTATTGCTAACACTTCAA TCATTTACTTCAGTTCCCTTTCCCTTACCCAGAGTGTCCCTAAAGGAGCA TAGGCCACCTCTGCTCTATGTTAAGTGCCCCCAAGTTGCAGGGTAAGGGG AGCTGGGGATTCCTGGCATGCTAAGTAAAGGGTAGCAAGGCTACCAAATT GTAAGGATACTATGTTTACAAATATAGAAAGCACTCCGTGAGAGAAAAAT CTAAAAATAACTGCTTCCTATTAGAGTATGGGGTTGTGTGGATGATTTAA ACCATGTTTCTCTGTTTAGTAAAACTTCTTTAATATTATTTAATAACTTT GATAGTTACAAAATAAATGTATCTGAAATTATAATTGTGACCAGATGGTC CTTTCTGAGCCAGACAGGATTAGAGAATGAGGGGATGGATCCTTTAATCG GCATCTTTAATCCACATGATTAATGAAGAAGTTTTTGTCCTTGCATATAA ACTTAGGCCAGGCATGGGTCTTTCCAATCTTAGCTGGGCAAACAAGGTTG GGGGTGCTCCAGTGACTTTATTTTTGGTTTTATTTTTGAAAATCGTGTTG TGCTGCCCCCTTCCCCTTTCAGG	C1RL	ENSG00000139178.12	transcript	ENST00000266542.9	protein_coding		4278		chr12	TogoVar
CAMTA1_chr1_6780454_7774706	6940929	A A	AGGGGGGT others(1050): Show AGGGGGGTCCTCAGAGGGAGAGGGATCCTCCCGGGGAGGGGGGATCCTCA CGGGGAAGGGCATCCTCAGGGGGAAGGGGGATCCTCATGGGGAGGGGGAT CCTCATGGGGAGGGGGATCCTCAGGGGGAGGGGAGATCCTCATGAGGAGG GGGGATCCTCACGGGGAGGGGGGGATCCTCCTCACAGGGAGGTGGATCCT CACGGGGAAGGGATCCTCAGGGGGAGGGGGATCCTCACAGGGAGGGGATC CTCAGGGGGAGGTGGATCCTCACGGGGAGGAGGATCCTCACGGGGAGGGG GATCCTCAGGGGGAGGAGGATCCTCACGGGGAGGGGGATCCTCAGGGGGA GGGGGATCCTCACGGGGAGGGGATCCTCAGGGGGAGGGGGATCCTCACAG GGAGGGGATCCTCAGGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCA GGGGGAGGGGGATCCTCACGGGGAGGAGGATCCTCACGGGGAGGGGGATC CTCAGGGGGAGGAGGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGG GATCCTCACGGGGAGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAG GGGATCCTCAGGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCAGGGG GAGGGGGATCCTCACGGGGAGGGGATCCTCAGGGGGAGGGGGATCCTCAC GGGGAGGGGATCCTCAGGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCT CACGGGGAGGGGATCCTCAGGGGGAGGGGGATCCTCACAGGGAGGGGATC CTCAGGGGGAGGTGGATCCTCACGGGGAGGAGGATCCTCACGGGGAGGGG GATCCTCAGGGGGAGGAGGATCCTCACGGGGAGGGGGATCCTCAGGGGGA GGGGGATCCTCACGGGGAGGGGATCCTCAGGGGGAGGGGGATCCTCACGG GGAGGGGATCCTCAGGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCA GGGGGAGGGGGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGGGATC CTCACGGG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0021 a0001c0001t0007g0021	1	58	0.0172	1057	c.234 others(1078): Show c.234+115719_234+115720insGGGGGGTCCTCAGAGGGAGAGGGA TCCTCCCGGGGAGGGGGGATCCTCACGGGGAAGGGCATCCTCAGGGGGAA GGGGGATCCTCATGGGGAGGGGGATCCTCATGGGGAGGGGGATCCTCAGG GGGAGGGGAGATCCTCATGAGGAGGGGGGATCCTCACGGGGAGGGGGGGA TCCTCCTCACAGGGAGGTGGATCCTCACGGGGAAGGGATCCTCAGGGGGA GGGGGATCCTCACAGGGAGGGGATCCTCAGGGGGAGGTGGATCCTCACGG GGAGGAGGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGAGGATCCTC ACGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAGGGGATC CTCAGGGGGAGGGGGATCCTCACAGGGAGGGGATCCTCAGGGGGAGGGGG ATCCTCAGGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAG GAGGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGAGGATCCTCACGG GGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAGGGGATCCTCA GGGGGAGGGGGATCCTCACGGGGAGGGGATCCTCAGGGGGAGGGGGATCC TCAGGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAGGGGA TCCTCAGGGGGAGGGGGATCCTCACGGGGAGGGGATCCTCAGGGGGAGGG GGATCCTCAGGGGGAGGGGGATCCTCACGGGGAGGGGATCCTCAGGGGGA GGGGGATCCTCACAGGGAGGGGATCCTCAGGGGGAGGTGGATCCTCACGG GGAGGAGGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGAGGATCCTC ACGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAGGGGATC CTCAGGGGGAGGGGGATCCTCACGGGGAGGGGATCCTCAGGGGGAGGGGG ATCCTCAGGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAG GGGGATCCTCAGGGGGAGGGGGATCCTCACGGG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22			chr1	TogoVar
CENPM_chr22_41933737_41952152	41939818	A A	AAAAGAAA others(1050): Show AAAAGAAAGAAAGAAAGAAAGAAAAAGAAGAAAAAGAAAGAAAAAGAAAG AAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAG AAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAA AGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAG AAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAG AAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAA AGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAA AGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAG AAAGAAAGAAAGAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAG AAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAG AAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAA AGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAG AAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAG AAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAA AAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAG AAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAA AGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAG AAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAAAGAAAGAA AGAAAAAG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0209 a0001c0001t0003g0209	1	258	0.0039	1057	c.403 others(1072): Show c.403-623_403-622insCTTTTTCTTTCTTTCTTTCTTTCTTTCTCT TTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCT TTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCT TTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTT CTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT TTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTT CTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTT CTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCT TTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTT CTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCT TTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTT CTTTCTTTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCT TTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTT CTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCT TTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTT CTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCT TTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTT CTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCT TTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTT CTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCT TCTTTTTCTTTCTTTCTTTCTTTCTTT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CFAP74_chr1_1916957_2008786	1929384	G G	GGAGGGGA others(1050): Show GGAGGGGACAGGTCTGGGGAGGCAGGAGAGAGGGTGAGGGGAGGCAGGGG AGATGGTGAGGGGAGGGAGGGGAGAGGGTGGGGGAGGGAGGGTAGGGGAG GGAGGGGAGAGGGTAGGGGAGGGAGGGAGAGGAGGGGAGAGGGTAGGGAG GGAGAGGAGGGGAGAAGGGAGGGGACGCAGGGAGGGGAGAGGAAAGAGGA GGGAGGGGAGAGGGGAGGGAGGGGAGCGGGTAGGGGAGGGAAGGAGGGGA AATGGTATGGGAGGGAGGGAGGGGAGAGGGTAGGGGAGAGAGGGAGCAGA GGGGAAAGGGTAGGGGAGGGAAGGAAGGGAGAGGGTAGGGGAGGTAGGGA GGGAGGGGAGAGGGTAGGGGAGGGGAGAGGGTAGGGGAGGGGAGAGGGTA GGGGAGGGAAGGAGGGGAGACGGTAGGGGAGGGAGGAAGAGGAGGGGAGA GGGTAGGGAGGGAGGGAGAGGAGAGGGGAGGAGGGGAGAGGGTAGGGAGG GAGGGGAGGAGGGAAGAGGGTAGGGAGGGAGGGAGAGGAGAGGGGAGGGA GGGAGGGGAGGAGGGGAGAGGGTGGGGAGGAGGGGAGAGGTTAGGGAGGG AGGGAGAGGAGGGGAGAGGGTAGGGGAGGGAAGGAGGGGAGAGGGTAGAG GAGGGAGGAGGGGAGAGGGGAGGGGAGGGAGGAAGAGGAGGGGAGAGGGT AGGGAGGGAGGGAGAGGAGAGGGGAGGGAGGGGAGGAGGGGAGAGGGTAG GGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGGAGAGGAGAGGGG AGGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGGAGAGGAGAGG GGAGGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGGAGAGAGGA GGGAGGGAGGGCAGGAGGGGAGAGGGTAGGGAGGGAGGGCAGGAGGGGAG AGGGTAGGGAGGGAGGGCAGGAGGGGAGAGGGTAGGGAGGGAGGGGAGGA AGGGAGAGGGTAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGGAGA GGAGGGGA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0255 a0003c0003t0001g0255	1	278	0.0036	1057	c.328 others(1074): Show c.3289-503_3289-502insTCCCCTCCTCTCCCTCCCTCCCTACCCT CTCCCCTCCTCCCCTCCCTACCCTCTCCCTTCCTCCCCTCCCTCCCTACC CTCTCCCCTCCTGCCCTCCCTCCCTACCCTCTCCCCTCCTGCCCTCCCTC CCTACCCTCTCCCCTCCTGCCCTCCCTCCCTCCTCTCTCCCTCCCTCCCT ACCCTCTCCCCTCCTCCCCTCCCTCCCTCCCCTCTCCTCTCCCTCCCTCC CTACCCTCTCCCCTCCTCCCCTCCCTCCCTCCCCTCTCCTCTCCCTCCCT CCCTACCCTCTCCCCTCCTCCCCTCCCTCCCTACCCTCTCCCCTCCTCCC CTCCCTCCCCTCTCCTCTCCCTCCCTCCCTACCCTCTCCCCTCCTCTTCC TCCCTCCCCTCCCCTCTCCCCTCCTCCCTCCTCTACCCTCTCCCCTCCTT CCCTCCCCTACCCTCTCCCCTCCTCTCCCTCCCTCCCTAACCTCTCCCCT CCTCCCCACCCTCTCCCCTCCTCCCCTCCCTCCCTCCCCTCTCCTCTCCC TCCCTCCCTACCCTCTTCCCTCCTCCCCTCCCTCCCTACCCTCTCCCCTC CTCCCCTCTCCTCTCCCTCCCTCCCTACCCTCTCCCCTCCTCTTCCTCCC TCCCCTACCGTCTCCCCTCCTTCCCTCCCCTACCCTCTCCCCTCCCCTAC CCTCTCCCCTCCCCTACCCTCTCCCCTCCCTCCCTACCTCCCCTACCCTC TCCCTTCCTTCCCTCCCCTACCCTTTCCCCTCTGCTCCCTCTCTCCCCTA CCCTCTCCCCTCCCTCCCTCCCATACCATTTCCCCTCCTTCCCTCCCCTA CCCGCTCCCCTCCCTCCCCTCTCCCCTCCCTCCTCTTTCCTCTCCCCTCC CTGCGTCCCCTCCCTTCTCCCCTCCTCTCCCTCCCTACCCTCTCCCCTCC TCTCCCTCCCTCCCCTACCCTCTCCCCTCCCTCCCCTACCCTCCCTCCCC CACCCTCTCCCCTCCCTCCCCTCACCATCTCCCCTGCCTCCCCTCACCCT CTCTCCTGCCTCCCCAGACCTGTCCCCTC	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	26/38			chr1	TogoVar
CNOT3_chr19_54132762_54160681	54133880	C C	CCTCTCTC others(1050): Show CCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCAC CTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCT CTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCC ACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCC CCTCACTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCAC TCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCACTCCACC TCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCC TCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTC CACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTC CCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTC CCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTC TCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTC CCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCC TCTCTCCACCTCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCCTCTCTC CACCTCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTC CCCTCACTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCT CTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCC CTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACC TCCCCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTC CACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACC TCCCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0136 a0001c0013t0001g0136	1	223	0.0045	1057	c.-41 others(1068): Show c.-4164_-4163insCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTC TCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCC TCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCC CCTCTCTCCACCTCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCCTCTC TCCACCTCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACC TCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTC CCCTCTCTCCCTCCCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCT GTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTC CCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTC CACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCC TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCA CCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTC CCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTCCCCTCTCT CTCCCTCCCTCTCTCCACCTCCCCTCACTCCACCTCCCCTCTCTCTCCCT CCCTCTCTCCACCTCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCCTCT CTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCT CCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCT CCCTCCCTCTCCACCTCCCCTCTCTCTTCCTCCCTCTCCACCTCCCCTCT CTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCC CTCCCTCTCTCCACCTCCCCTCT	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3881		chr19	TogoVar
COL18A1_chr21_45400165_45518720	45500731	G G	GGTGGGTG others(1050): Show GGTGGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGG GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGT TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTG GGTGTGTAGTGTGGGGGTGTGTTTTGGTGTGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0007 a0007	a0007c0034 a0007c0034	a0007c0034t0001 a0007c0034t0001	a0007c0034t0001g0141 a0007c0034t0001g0141	1	292	0.0034	1057	c.268 others(1076): Show c.2683+3073_2683+3074insGGTGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG TGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG TGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA GTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG GGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG TGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGTTTTGGTGT GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(1050): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGG AGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGA GGAGGAGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGA GGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAG GAGGGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGG GAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGG AGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGAGGAGGGAGGAG GGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGAG GAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGA GGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGGAGGAGGGAGG AGGAGGAGGGAGGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGG AGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGA GGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGGAG GAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAG GGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGGAGGAGGAGGAG GAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAAGGAGGAGGGAGGAAGGAG GAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGAAGGAGGAGGGAGGAGG GAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGG AGGAGGAGGGAGGAGGAGGAGGAGGAGGGGGGAGGAGGGAGGAGGGAGGA GGAGGAGGGGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGG AGGAGGAG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0063 a0001c0063	a0001c0063t0001 a0001c0063t0001	a0001c0063t0001g0155 a0001c0063t0001g0155	1	252	0.0040	1057	c.118 others(1076): Show c.11806-562_11806-561insCTCCTCCTCCTCCCTCCTCCTCCTCC TCCTCCTCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCTCCTCCCTCCT CCCCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCC TCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTTC TCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTTCCTCCCTCCTCC TTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCT CCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCT CCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTC CCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTC CTCCTCCTCCCTCCTCCTCCCTCCCTCCTCCTCCTCCCTCCTCCCTCCCT CCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCT CCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCT CCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCTCC TCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCC TCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCCCTCCT CCTCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCT CCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTC CTCCCTCCTCCTCCTCCTCCTCCCTCTCCTCCTCCTCCCTCCTCCTCCTC CCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCC TCCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(1050): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGG GAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGG AGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGA GGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGGAGGA GGAGGGGGAGGAGGGAGGGAGGAGGGAGGAGGGAGGAGGGGGAGGAGGAG GGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGGGGAGGAGGGAGGAGGGAG GAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGGAGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGG AGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGG AGGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAAGGAGGAGGGAGGAAGGA GGAGGGAGGAGGAGGAGGGAGGAAGGAGGAGGGAGGAGGAGGAGGGAGGA AGGAGGAGGGAGGAGGAAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGA GGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAG GAGGGAGGAGGAGGAGGGAGGAAGGAGGAGGGAGGAGGAGGAGGGAGAGG GGAGGAGGAGAGGAGGAAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGA GGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGGAGGGAGGAGG AGGAGGGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAG GAGGTGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGGAGGAGGGA GGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGGGAGAGGAG GAGGAGGAGGTGAGGAGGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGA GGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGGAGG AGGAGGAG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0099 a0099	a0099c0177 a0099c0177	a0099c0177t0001 a0099c0177t0001	a0099c0177t0001g0245 a0099c0177t0001g0245	1	252	0.0040	1057	c.118 others(1076): Show c.11806-562_11806-561insCTCCTCCTCCTCCTCCTCCTCCCTCC TCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTC CTCCTCCCTCCTCCCCTCCTCACCTCCTCCTCCTCCTCTCCCCCTCCTCC TCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCCTCCTCC TCCTCCCTCCTCCCTCCTCCCTCCTCCACCTCCTCCTCCTCCCTCCTCCC TCCTCCCTCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCTCCCTCCCT CCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTC CTCCTCCCTCCTCCTTCCTCCTCTCCTCCTCCCCTCTCCCTCCTCCTCCT CCCTCCTCCTTCCTCCCTCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCT CCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTC CTCCTCCCTCCTCCTTCCTCCTCCCTCCTCCTTCCTCCCTCCTCCTCCTC CCTCCTCCTTCCTCCCTCCTCCTCCTCCCTCCTCCTTCCTCCCTCCTCCT TCCTCCCTCCTCCTCCTCCCTCCTCCCTCCCTCCTCCTCCTCCCTCCTCC CTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCC TCCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCC CCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTC CCTCCTCCCTCCTCCCTCCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCT CCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCTC CTCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCC CTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCC TCCTCCCTCCTCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DOCK1_chr10_126900428_127457516	126947448	G G	GTGGTGGT others(1050): Show GTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTG GTAGTATTACTGTTGGTGTTGGTGATGGTGGTAGTTGGTAGTATTACTGT TGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGT TGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTT GGTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTG GTTGGTAGTATTACTGTTGGTGGTGGTGATGGTGGTTGGTAGTATTACTG TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGT TGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGT AGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACT GTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTG GTGGTTGGTAGTATTACTGTTGGTGTTGGTGATGGTGGTAGTTGGTAGTA TTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGA TGGTGGTTGGTAGCATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTAT TACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGT ATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTG ATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTA GTATTACTGTTGGTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGG TGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGG TAGTATTACTGTTGGTGTTGGTGATGGTGGTAGTTGGTAGTATTACTGTT GGTGGTGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0052 a0001c0052	a0001c0052t0002 a0001c0052t0002	a0001c0052t0002g0035 a0001c0052t0002g0035	1	136	0.0074	1057	c.47- others(1074): Show c.47-23244_47-23243insGGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGTGGTTGGTAGTATTACTGTTGGTGTTGGTGATGGTGGTAGTTGGT AGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTG GTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTA GTATTACTGTTGGTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGG TGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGATGGTGGTTGG TAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGT GGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGT AGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTG GTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTG GTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGG TGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGTTGGTGATGGTGGT AGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACT GTTGGTGGTGATGGTGGTTGGTAGCATTACTGTTGGTGGTGGTGGTGGTG GTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTG TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTAC TGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGT GGTGGTTGGTAGTATTACTGTTGGTGGTGGTGATGGTGGTTGGTAGTATT ACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATG GTGGTGGTTGGTAGTATTACTGTTGGTGTTGGTGATGGTGGTAGTTGGTA GTATTACTGTTGGTGGTGATGGTGGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DPEP1_chr16_89608642_89643433	89619245	G G	GCCCCCCC others(1050): Show GCCCCCCCCGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCC CTGCAGCCCCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCC CCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCCGCTCCCCTCCCTGCA GCTCCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCT CCCCTCCCTGTAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCT GCCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCTGCTCCCCTCC CTGCAGCCCCCTGCCCCCCCCCGCTCCCCCTCCCTGTAGCCCCCCTGCCC CCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGT AGCCCACCCTGCCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCC TGCTCCCCTTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCC CCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCT CCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCC CCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCCCGCTCCCCTCCCTGC AGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTC CCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCCTG CCCCCCCTGCTCCCCTCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTG CAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCCC GCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTC CATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCCTC CCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCC CCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCCTGCTCCCCTCCCTGCAG CTCCCTGC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	250	0.0040	1057	c.-10 others(1076): Show c.-107+5533_-107+5534insCGCTCCCCTCCCTGCAGCCCCCCTGC CCCCCCGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCCGCTCCCCTCCCT GCAGCTCCCTGCCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCC CGCTCCCCTCCCTGCAGCTCCCCTGCCCCCCCCGCTCCCCTCCCTGCAGC CCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCTGCTCCC CTCCCTGCAGCTCCCTGCCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCC CCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCCCGCTCCCCCTCCC TGTAGCCCCCCTGCCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCC CCGCTCCCCTCCCTGTAGCCCACCCTGCCCCCCCCCGCTCCCCTCCCTGC AGCTCCCTGCCCCCCCTGCTCCCCTTCCCTGCAGCTCCCTGCCCCCCCGC TCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCT GCCCCCCCGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCC TGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCC CCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGC TCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCT CCCTGCAGCCCCCCTGCCCCCCCTGCTCCCCTCCTGCAGCTCCCTGCCCC CCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAG CCCCCTGCCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCT CCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGC CCCCCCGCTCCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCCT GCTCCCCTCCCTGCAGCTCCCTGCCCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EXOC6B_chr2_72170984_72831033	72543424	T T	TGAGATAT others(1050): Show TGAGATATTATTATTATTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTT TTTTTTAAATTTATTTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAG GGGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATA AACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCCGCGGCC TTCCGCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGATTGGTGATGA CTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTT GCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAG AGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAG AGGAATTTTTCTTAGTGCAGAACAAAATGAAAAGTCTCCCATGTCTACTT CTTTCTACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACC TTTCCCGCCTTTCTATTCCACAATGCCGCCATTGTCATCCTGGCCCGTTC TCAATGAGCTGTTGGGCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCAGGCAGAGGCGCCCCTCACCTCCCGGAAGGGGCGGCTGGCCGGG CAGGGGGGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	104	0.0096	1057	c.915 others(1076): Show c.915+16028_915+16029insGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCTT CCGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCA GCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCACC CCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACGGGCCAGGATGACA ATGGCGGCATTGTGGAATAGAAAGGCGGGAAAGGTGGGGAAAAGATTGAG AAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTAGACATGGGAGACT TTTCATTTTGTTCTGCACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTT GATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGT CCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAA CAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTAAT CTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCGGGGTCCTCTGC CTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCT CCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCA AGAATTATCAATAAAAAAATAAATTTAAAAAAAAAAAAAAAAAGAAAAAA AAAAAAAAAAAAAAAATAATAATAATATCTC	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	8/21			chr2	TogoVar
FBXL14_chr12_1560993_1599581	1574458	C C	CGTGTGGG others(1050): Show CGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGGGTGAGAGGAGGCTGG TGGCAGCAGTGTGGGTGGAGGCTGGGGTGGGGGAGGCTGGTGGCAGCGGT GTGGATGGAGGCTGGGGTGAGAGGAGGCTGGTGGCAGCAGTGTGGGTGGA GGCTGGGGTGAGGGGAGGCTGGGGTGGGGGAGGCTGGTGGCAGCAGCGGT GTGGGTGGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCAGCGGTGTGGGTG GAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGG TGAGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGGTGGGGGGAG GCTGGTGGCAGTGGTGTGGGTGGAGGCTGGGGTGGGGGGAGGCTGGTGGC AGCGGTGTGGATGGAGGCTGGGGTGGGGGGAGGCTGGTGGCAGCGGTGTG GGTGGAGGCTGGGGTGGGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGC TGGGGTGGGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGGTGGA GGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGGTAGGGGAGGCTGG CGGCAGCAGCGGTGTGGGCGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAG CGGTGTGGATGGAGGCTGGGGTGAGGGGAGGCTGGCAGCAGCGGTGTGGG TGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTG GGGTGGGGGAGGCTGGCGGCAGCAGCGGTGTGGGTGGAGGCTGGGTGAGG AGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGAGGGGAGGCTGGTG GCAGCAGTGTGGATGGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCGGTGT GGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCAGTGTGGATGGAGG CTGGGGTGGGGGAGGCTGGCGGCAGCGGTGTGGATGGAGGCTGGGGTGAG GGGAGGCTGGTGGCAGCAGTGTGGATGGAGGCTGGGGTGGGGGAGGCTGG CGGCAGCG	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0029 a0001c0004t0006g0029	1	418	0.0024	1057	c.119 others(1076): Show c.1195-7649_1195-7648insCGCTGCCGCCAGCCTCCCCCACCCCA GCCTCCATCCACACTGCTGCCACCAGCCTCCCCTCACCCCAGCCTCCATC CACACCGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCATCCACACTGCTG CCACCAGCCTCCCCTCACCCCAGCCTCCACCCACACCGCTGCCGCCAGCC TCCCCCACCCCAGCCTCCATCCACACTGCTGCCACCAGCCTCCCCTCACC CCAGCCTCCATCCACACCGCTGCCACCAGCCTCCTCACCCAGCCTCCACC CACACCGCTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCATCCACACCG CTGCCACCAGCCTCCCCTCACCCCAGCCTCCACCCACACCGCTGCTGCCA GCCTCCCCTCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCT CACCCCAGCCTCCGCCCACACCGCTGCTGCCGCCAGCCTCCCCTACCCCA GCCTCCACCCACACCGCTGCCACCAGCCTCCCTCCACCCCAGCCTCCACC CACACCGCTGCCACCAGCCTCCCCCCACCCCAGCCTCCACCCACACCGCT GCCACCAGCCTCCCCCCACCCCAGCCTCCACCCACACCGCTGCCACCAGC CTCCCCCCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCCCA CCCCAGCCTCCACCCACACCACTGCCACCAGCCTCCCCCCACCCCAGCCT CCACCCACACCGCTGCCACCAGCCTCCCCTCACCCAGCCTCCACCCACAC CGCTGCCACCAGCCTCCCCTCACCCCAGCCTCCACCCACACCGCTGCTGC CGCCAGCCTCCCCCACCCCAGCCTCCACCCACACCGCTGCTGCCACCAGC CTCCCCCACCCCAGCCTCCCCTCACCCCAGCCTCCACCCACACTGCTGCC ACCAGCCTCCTCTCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTC CCCCACCCCAGCCTCCACCCACACTGCTGCCACCAGCCTCCTCTCACCCC AGCCTCCCCTCACCCCAGCCTCCACCCACAC	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding	1/1			chr12	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(1050): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT AATATATATTTTATATATATTATATATTTTATATATAATATATATTTTAT ATATATTATATATTTTATATATAATATATATTTTATATATATTATATATT TTATATATAATATATATTTTATATATAATATATATTTTATATATATTATA TATTTTATATATAATATATATTTTATATATATTATATATTTTATATATAA TATATATATATTATATATAATATATATTATATATAATATATATATTATAT ATAATATATATTATATATAATATATATATTATATAAAATATATAATATAT ATCTTATATATATCATATATTTTATATATATCATATATTTTATATATATC ATATATTTTATATATAATATATATTATATATACATTATATAATATATATT ATATTATATATAATATATTATATAATATATATTATATATTATACGTAATA TATAATGTATATTATATATAATATACATTATATAATGTATATTATATATA ATATACATTATATACAATGTATATTATATATAATATACATTGTATATAAT GTATATTACATATAATATACATTGTATATAATGTATATTACATATAATAT ACATTATATAATGTATATTACATATAATATACATTGTATATAATGTATAT TACATATAATATACATTGTATATAATGTATATTACATATAATATACATTA TATATAATGTGTATATTACATGTAATATACATTATATATAATGTATATTA TATGTAATATATACATTATATAATGTGTATATTATATGTAATATATACAT TATATATAATGTATATATTATATGTAATATATACATTATATATAATGTAT ATATTACATGTAATATATACATTATATATAATGTATATTATATGTAATAT ATACATTATATATAATGTATATTATATGTAATATATACATTATATATAAT GTATATTATATGTAATATATACATTATATAATGTATACATTGTATATAAT GTATATTA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	350	0.0029	1057	c.94- others(1070): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATAATATATATTTTATATATATTATATATTTTATA TATAATATATATTTTATATATATTATATATTTTATATATAATATATATTT TATATATATTATATATTTTATATATAATATATATTTTATATATAATATAT ATTTTATATATATTATATATTTTATATATAATATATATTTTATATATATT ATATATTTTATATATAATATATATATATTATATATAATATATATTATATA TAATATATATATTATATATAATATATATTATATATAATATATATATTATA TAAAATATATAATATATATCTTATATATATCATATATTTTATATATATCA TATATTTTATATATATCATATATTTTATATATAATATATATTATATATAC ATTATATAATATATATTATATTATATATAATATATTATATAATATATATT ATATATTATACGTAATATATAATGTATATTATATATAATATACATTATAT AATGTATATTATATATAATATACATTATATACAATGTATATTATATATAA TATACATTGTATATAATGTATATTACATATAATATACATTGTATATAATG TATATTACATATAATATACATTATATAATGTATATTACATATAATATACA TTGTATATAATGTATATTACATATAATATACATTGTATATAATGTATATT ACATATAATATACATTATATATAATGTGTATATTACATGTAATATACATT ATATATAATGTATATTATATGTAATATATACATTATATAATGTGTATATT ATATGTAATATATACATTATATATAATGTATATATTATATGTAATATATA CATTATATATAATGTATATATTACATGTAATATATACATTATATATAATG TATATTATATGTAATATATACATTATATATAATGTATATTATATGTAATA TATACATTATATATAATGTATATTATATGTAATATATACATTATATAATG TATACATTGTATATAATGTATATTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(1050): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT AATATATATTTTATATATATTATATATTTTATATATAATATATATTTTAT ATATATTATATATTTTATATATAATATATATTTTATATATATTATATATT TTATATATAATATATATTTTATATATATTATATATTTTATATATAATATA TATTTTATATATAATATATATTTTATATATATTATATATTTTATATATAA TATATATTTTATATATATTATATATTTTATATATAATATATATATTATAT ATAATATATATTATATATAATATATATATTATATAAAATATATAATATAT ATCTTATATATATCATATATTTTATATATATCATATATTTTATATATATC ATATATTTTATATATAATATATATTATATATACATTATATAATATATATT ATATTATATATAATATATTATATAATATATATTATATATTATACGTAATA TATAATGTATATTATATATAATATACATTATATAATGTATATTATATATA ATATACATTATATACAATGTATATTATATATAATATACATTGTATATAAT GTATATTACATATAATATACATTATATAATGTATATTACATATAATATAC ATTGTATATAATGTATATTACATATAATATACATTGTATATAATGTATAT TACATATAATATACATTATATATAATGTGTATATTACATGTAATATACAT TATATATAATGTATATTACATGTAATATATACATTATATAATGTGTATAT TATATGTAATATATACATTATATATAATGTATATATTACATGTAATATAT ACATTATATATAATGTATATATTACATGTAATATATACATTATATATAAT GTATATTACATGTAATATATACATTATATATAATGTATATTACATGTAAT ATATACATTATATATAATGTATATTATATGTAATATATACATTATATATA ATGTATATTATATGTAATATACATTATATAATGTATACATTGTATATAAT GTATATTA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	350	0.0029	1057	c.94- others(1070): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATAATATATATTTTATATATATTATATATTTTATA TATAATATATATTTTATATATATTATATATTTTATATATAATATATATTT TATATATATTATATATTTTATATATAATATATATTTTATATATATTATAT ATTTTATATATAATATATATTTTATATATAATATATATTTTATATATATT ATATATTTTATATATAATATATATTTTATATATATTATATATTTTATATA TAATATATATATTATATATAATATATATTATATATAATATATATATTATA TAAAATATATAATATATATCTTATATATATCATATATTTTATATATATCA TATATTTTATATATATCATATATTTTATATATAATATATATTATATATAC ATTATATAATATATATTATATTATATATAATATATTATATAATATATATT ATATATTATACGTAATATATAATGTATATTATATATAATATACATTATAT AATGTATATTATATATAATATACATTATATACAATGTATATTATATATAA TATACATTGTATATAATGTATATTACATATAATATACATTATATAATGTA TATTACATATAATATACATTGTATATAATGTATATTACATATAATATACA TTGTATATAATGTATATTACATATAATATACATTATATATAATGTGTATA TTACATGTAATATACATTATATATAATGTATATTACATGTAATATATACA TTATATAATGTGTATATTATATGTAATATATACATTATATATAATGTATA TATTACATGTAATATATACATTATATATAATGTATATATTACATGTAATA TATACATTATATATAATGTATATTACATGTAATATATACATTATATATAA TGTATATTACATGTAATATATACATTATATATAATGTATATTATATGTAA TATATACATTATATATAATGTATATTATATGTAATATACATTATATAATG TATACATTGTATATAATGTATATTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(1050): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT AATATATATTTTATATATATTATATATTTTATATATAATATATATTTTAT ATATATTATATATTTTATATATAATATATATTTTATATATATTATATATT TTATATATATTATATATTTTATATATAATATATATTTTATATATATTATA TATTTTATATATAATATATATTTTATATATATTATATATTTTATATATAA TATATATATATTATATATAATATATATTATATATAATATATATATTATAT ATAAAATATATAATATATATCTTATATATATCATATATTTTATATATATC ATATATTTTATATATATCATATATTTTATATATAATATATATTATATATA CATTATATAATATATATTATATTATATATAATATATTATATAATATATAT TATATATTATACGTAATATATAATGTATATTATATATAATATACATTATA TAATGTATATTATATATAATATACATTATATAATGTATATTATATATAAT ATACATTATATACAATGTATATTATATATAATATACATTGTATATAATGT ATATTACATATAATATACATTGTATATAATGTATATTACATATAATATAC ATTATATAATGTATATTACATATAATATACATTGTATATAATGTATATTA CATATAATATACATTGTATATAATGTATATTACATATAATATACATTATA TATAATGTGTATATTACATGTAATATACATTATATATAATGTATATTATA TGTAATATATACATTATATAATGTGTATATTATATGTAATATATACATTA TATATAATGTATATATTATATGTAATATATACATTATATATAATGTATAT ATTACATGTAATATATACATTATATATAATGTATATTATATGTAATATAT ACATTATATATAATGTATATTATATGTAATATATACATTATATATAATGT ATATTATATGTAATATATACATTATATATAATGTATACATTGTATATAAT GTATATTA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03942.hp1 HG00735.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0115 a0001c0001t0001g0076 a0001c0001t0001g0115	2	350	0.0057	1057	c.94- others(1070): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATAATATATATTTTATATATATTATATATTTTATA TATAATATATATTTTATATATATTATATATTTTATATATAATATATATTT TATATATATTATATATTTTATATATATTATATATTTTATATATAATATAT ATTTTATATATATTATATATTTTATATATAATATATATTTTATATATATT ATATATTTTATATATAATATATATATATTATATATAATATATATTATATA TAATATATATATTATATATAAAATATATAATATATATCTTATATATATCA TATATTTTATATATATCATATATTTTATATATATCATATATTTTATATAT AATATATATTATATATACATTATATAATATATATTATATTATATATAATA TATTATATAATATATATTATATATTATACGTAATATATAATGTATATTAT ATATAATATACATTATATAATGTATATTATATATAATATACATTATATAA TGTATATTATATATAATATACATTATATACAATGTATATTATATATAATA TACATTGTATATAATGTATATTACATATAATATACATTGTATATAATGTA TATTACATATAATATACATTATATAATGTATATTACATATAATATACATT GTATATAATGTATATTACATATAATATACATTGTATATAATGTATATTAC ATATAATATACATTATATATAATGTGTATATTACATGTAATATACATTAT ATATAATGTATATTATATGTAATATATACATTATATAATGTGTATATTAT ATGTAATATATACATTATATATAATGTATATATTATATGTAATATATACA TTATATATAATGTATATATTACATGTAATATATACATTATATATAATGTA TATTATATGTAATATATACATTATATATAATGTATATTATATGTAATATA TACATTATATATAATGTATATTATATGTAATATATACATTATATATAATG TATACATTGTATATAATGTATATTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
KIF25_chr6_167992671_168050091	167997457	G G	GGGGGGCG others(1050): Show GGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATG GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGG GGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG GCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGG GGGAATCTGCAGAGATGGCGACGGGGGAATCTGCAGAGATGGGGGTCGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGCGACGGGGGA ATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCT GCAGAGATGGGGGCCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAGTCT GCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAGTCT GCAGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	375	0.0027	1057	c.-20 others(1068): Show c.-2012_-2011insGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGA ATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCA GAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATGGGGGGTCGGGGGAATCTGCAGAGATGGCGACGGGGGAATCTGCA GAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAG AGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGA GATGGCGACGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAG ATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTG GGGGCGGGGGAATCTGCAGAGATGGGGGCCGGGGGAATCTGCAGAGATGG GGGGCGGGGGAGTCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGG GGGGCGGGGGAGTCTGCAGAGGT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		213		chr6	TogoVar
MROH1_chr8_144143016_144266926	144233363	C C	CCTCCCCC others(1050): Show CCTCCCCCGCAGCTCCTGCACCCACCATCAACCTTCCCTCCCCCGCAGCT CCTGCACCCACCATCAACCTTCCCTCCCCCGCAGCTCTGCACCCCACCAT CCGCCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCC CCCGCAGCTCCTGCACCCCACCATCCACCTTCCCTCTCCCACAGCTCCTG CACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCAC TTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGC AGCTCCTGCACCCACCATCAACCTTCCCTCCCCCGCAGCTCCTGCACCCA CCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCC TCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCC TGCACCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATC CACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCC CGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCA CCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACC TTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGC AGCTCCTGCACCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCA CCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCT CTCCCCCGCAGCTCCTGCACCCCACTATCCACCTTCTCTCCCCCGCAGCT CCTGCACCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCA TCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTC CCCCGCAGCTCCTGCACCCCACTATCCACCTTCTCTCCCCCGCAGCTCCT GCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATC CACCTTCT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0111 a0001c0019t0001g0111	1	140	0.0071	1057	c.133 others(1076): Show c.1339-5365_1339-5364insAACCTTCCCTCCCCCGCAGCTCCTGC ACCCACCATCAACCTTCCCTCCCCCGCAGCTCTGCACCCCACCATCCGCC TTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGC AGCTCCTGCACCCCACCATCCACCTTCCCTCTCCCACAGCTCCTGCACCC ACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACTTTCC CTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTC CTGCACCCACCATCAACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATC CACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCC CGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCAC CCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCT TCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAG CTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCAC CATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTC TCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTC CTGCACCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCACCATC CACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCC CCGCAGCTCCTGCACCCCACTATCCACCTTCTCTCCCCCGCAGCTCCTGC ACCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCAC CTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCG CAGCTCCTGCACCCCACTATCCACCTTCTCTCCCCCGCAGCTCCTGCACC CCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCT TCTCTCCCCCGCAGCTCCTGCACCCACCATC	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	14/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(1050): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGG GAGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGA GGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGG AGGGGAGGAAGGGGGAGGGGGAGGGAGGAGGGGAGGAAGGGGGAGGGGGA GGGAGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGAGGAGGTGGGAGGGGG AGGGGAGGATGGGGAGGGGAGAAGGGGAGGGGAGGAGGGGAGGGGAGGAG GGGGAGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGAGG AGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGA GGAGGGGAGGAGGGGGAGGGGAGGAGGAGGAGGGGAGGAGGGGAGGGGAG GAGGGGGAGGGGAGGAGGGGAGTAGGGGGAGGGGGGGAGGGGGAGGGGAG GGGGGAGGAAGGGGGAGGGAGGAGGGGAGGAAGGGGGAGGGAGGAGGGGA AGAAGGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGAGGAGGGGGGGAGG GGAGGAGGGGTGAGAGGAGGAGAGAGGAGGGGAGGAGGGGGAGGGGAGGA GGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGGGAGGGGAGGAGGGGA GGGGAGGAGGGGAGGGGAGGAAAGGAAGGGAGGGAAGGGGAGGGGAGGAG TGGAGAGGAGGATGAGGGGAGGGGAGGGGAGGAGTGGAGAGGAGGGTAAG GGAAGGAAGCAGAGGAGGGAGGAGTGGAGAGGAGGGGAAGGGAGGGGAGG GGAGGGGTGCGGGAGGGGAGGGGTGCGGGAGGGGAGGGTAAGGGAAGGGA GGGGAGGGTGGGGGAGGGGAGGGAAGAGGAGTGGAGAGGAGGAGAAGGGA GGGGAGGG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0109 a0001c0002t0001g0109	1	208	0.0048	1057	c.279 others(1072): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCCTCCCTTCCCCTCCTC TCCACTCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTC CCCTCCCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCC CTTCCTTTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCCCT CCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCC TCCTCTCTCCTCCTCTCACCCCTCCTCCCCTCCCCCCCTCCTCCCCTCCC CCTCCCCCTCCCTCCCCCTCCCCCTTCTTCCCCTCCTCCCTCCCCCTTCC TCCCCTCCTCCCTCCCCCTTCCTCCCCCCTCCCCTCCCCCTCCCCCCCTC CCCCTACTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCC TCCTCCTCCCCTCCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTTCTCCCCTCCCCATCCTCCCCTCCCCCTCCCACCTCCTCCCCTC CCCCCTCCCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCCTTCCTCCCCT CCTCCCTCCCCCTCCCCCTTCCTCCCCTCCTCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCT CCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCCCCTCCCCTT CCCCTCCCCTTCCCACCCCTCCCTTCTCCTTCCCCCTCCCCTTCCCTCCC TTCCCTTCTCCCCCCTCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
NXN_chr17_794310_984776	949204	T T	TGCCTCCT others(1050): Show TGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTC CTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCC TGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTC TCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCC CCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCC TCTCCCCGCGGCCTCCTACTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGC CTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCC CCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCT CCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGTG GCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTC CCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCT CCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCG GCCTCCTACTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCT CCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTACTCTCCCCCCTGCCTC CTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCC TGCCTCCTCCTCTCCCCGTGGCCTCCTCCTCTCCCCCTGCCTCCTCCTCT CCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTC CTCCTCTCCCCGTGGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCC TGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCGCG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	242	0.0041	1057	c.360 others(1076): Show c.360+30114_360+30115insCGCGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGC AGGGGGAGAGGAGGAGGCCACGGGGAGAGGAGGAGGCAGGGGGGAGAGGA GGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGG AGAGGAGGAGGCCACGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGC AGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGTA GGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGG GAGAGGAGGAGGCAGGGGGGAGAGTAGGAGGCCGCGGGGAGAGGAGGAGG CAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGCGGGGAGAG GAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGG GGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCCACGGGGAGAGGAGGAGG CAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAG GAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGG GGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGA GGCAGGGGGGAGAGTAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAG AGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAG GGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAG GAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGG AGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGC AGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGA GGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCCGGGGGGAGAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PRPF31_chr19_54110754_54136713	54133880	C C	CCTCTCTC others(1050): Show CCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCAC CTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCT CTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCC ACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCC CCTCACTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCAC TCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCACTCCACC TCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCC TCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTC CACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTC CCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTC CCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTC TCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTC CCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCC TCTCTCCACCTCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCCTCTCTC CACCTCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTC CCCTCACTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCT CTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCC CTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACC TCCCCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTC CACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACC TCCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	227	0.0044	1057	c.24 others(1068): Show c.2448_*2449insCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTC TCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCC TCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCC CCTCTCTCCACCTCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCCTCTC TCCACCTCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACC TCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTC CCCTCTCTCCCTCCCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCT GTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTC CCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTC CACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCC TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCA CCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTC CCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTCCCCTCTCT CTCCCTCCCTCTCTCCACCTCCCCTCACTCCACCTCCCCTCTCTCTCCCT CCCTCTCTCCACCTCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCCTCT CTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCT CCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCT CCCTCCCTCTCCACCTCCCCTCTCTCTTCCTCCCTCTCCACCTCCCCTCT CTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCC CTCCCTCTCTCCACCTCCCCTCT	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2168		chr19	TogoVar
SLC38A10_chr17_81239811_81300307	81249360	G G	GATGAAGG others(1050): Show GATGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAGAAGGAAGG AGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAG GGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGG AAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAA GAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGCAAGA GGAGGGAGAAGGAGGGAGAAGGAGGGAAGAGGAGGGAGAAGGAGGGAGGG AAGAGGAGGGAGAAGGAGGGAAGAGGAGGGAGAAGGAGGGAGGCAAGAGG AGGGAGAAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAG GCAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGAA GGAGGGAGGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGG AAGAGGAGGGAGAAGGAGGGAGGCAAGAGGAGGGAGAAGGAGGGAGGCAA GAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGAGGAG GGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGG AGAAGGAGGGAAGAGGAGGGAGAAGGAGGGAGAAGGGAGGAGGAGGGAGA AGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAG GAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAGGAGGGAGGGAAGAGG AGGGAGAAAGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAG GGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAAGG AGAAGGAGGGAGGGAGGAGGGAGGGAAGAGGAGGGAGAAAGAGGGAGGGA AGAGGAGGGAAAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAG AGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAG GAGGGAGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG03486.hp2 HG01167.hp1 HG01169.hp1 HG03486.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0003 a0005c0010t0003	a0005c0010t0003g0004 a0005c0010t0003g0185 a0005c0010t0003g0004 a0005c0010t0003g0185	3	214	0.0140	1057	c.206 others(1076): Show c.2065+2132_2065+2133insTCTCCCTCCTCTTCCCTCCCTCCTTC TCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTC CCTCCTCTTCCCTCCCTCCTTTTCCCTCCTCTTCCCTCCCTCTTTCTCCC TCCTCTTCCCTCCCTCCTCCCTCCCTCCTTCTCCTTCCTCTTCCCTCCCT CCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCC TTCTCCCTCCTCTTCCCTCCCTCTTTCTCCCTCCTCTTCCCTCCCTCCTC CCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCC TCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCCTCCCTT CTCCCTCCTTCTCCCTCCTCTTCCCTCCTTCTCCCTCCTCTTCCCTCCCT CCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCCTCCCTCCTTCT CCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTGCCTCCCTCCTTCTCC CTCCTCTTGCCTCCCTCCTTCTCCCTCCTCTTCCCTCCTTCTCCCTCCTC TTCCCTCCCTCCTTCTCCCTCCTCCTCCCTCCTTCTCCCTCCTTCTCCCT CCTCTTCCCTCCCTCCTTCTCCCTCCTCTTGCCTCCCTCCTTCTCCCTCC TCTTCCCTCCCTCCTTCTCCCTCCTTCTCCCTCCTCTTGCCTCCCTCCTT CTCCCTCCTCTTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCT CCTCTTCCCTCCTTCTCCCTCCTTCTCCCTCCTCTTGCCTCCCTCCTTCT CCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCC CTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCT CCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCC TCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCTTCCTTCTCCCTCCCT CCTTCTCCCTCCTCTTCCCTCCCTCCTTCAT	SLC38A10	ENSG00000157637.13	transcript	ENST00000374759.8	protein_coding	14/15			chr17	TogoVar
SLC44A5_chr1_75197129_75616114	75280139	T T	TATATATA others(1050): Show TATATATATTGTATATCTAATATATATTATATATATTTTATATTGTATAT ATAATATATAGTATATATTATATATTGTATATAATATATATAGTATATAT TATATATTGTATATAATATATATAGTATATATTATATATTGTATATAATA TATATAGTATATATTATATATTGTATATAATATATATAGTATATATTATA TATTGTATATAATATATATAGTATATATTATATATTGTATATAATATATA TAGTATATATTATATATTGTATATAATATATATAGTATATACTATATATT GTATATAATATATATAGTATATACTATATATTGTATATAATATATATAGT ATATACTATATATTGTATATAATATATATAGTATATACAATATATAATAT ATACTATATATAGTATATACAATATATAATATATACTATATATATTATAT ATTGTATATACTATATATAGTATATATTATATATTGTATATAATATATAT AGTATATATTATATATTGTATATAATATATATAGTATATATAATATATAT ATTGTATATAATATATATTGTATATATAATATATATAGTATATGTTATAT ATTGTATATATAATATATATTGTATATGTTATATATTGTATATATAATAT ATATAGTATATGTTATATATTGTATATAATATATAGTATATGTTATATAT TGTATATATAATATATAGTATATGTTATATATTGTATATATTATATATTG TATATGTTATATATTGTATATATTATATATTGTATATGTTATATATTGTA TATATTATATATTGTATATATTATATATTGTATATATTATATATTGTATA TATAATATATATTGTATATATTATATATTGTATATATAATATATATTGTA TATATTATATATTGTATATATAATATATATTGTATATATTATATATTGTA TATATAATATATATTGTATATATTATATATTGTATATATAATATATATTG TATATATTATATATTGTATATATAATATATATTGTATATATTATATATTG TATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0120 a0001c0003t0001g0120	1	156	0.0064	1057	c.176 others(1074): Show c.176-5098_176-5097insTATATATACAATATATAATATATACAAT ATATATTATATATACAATATATAATATATACAATATATATTATATATACA ATATATAATATATACAATATATATTATATATACAATATATAATATATACA ATATATATTATATATACAATATATAATATATACAATATATATTATATATA CAATATATAATATATACAATATATATTATATATACAATATATAATATATA CAATATATAATATATACAATATATAATATATACAATATATAACATATACA ATATATAATATATACAATATATAACATATACAATATATAATATATACAAT ATATAACATATACTATATATTATATATACAATATATAACATATACTATAT ATTATATACAATATATAACATATACTATATATATTATATATACAATATAT AACATATACAATATATATTATATATACAATATATAACATATACTATATAT ATTATATATACAATATATATTATATACAATATATATATTATATATACTAT ATATATTATATACAATATATAATATATACTATATATATTATATACAATAT ATAATATATACTATATATAGTATATACAATATATAATATATATAGTATAT ATTATATATTGTATATACTATATATAGTATATATTATATATTGTATATAC TATATATATTATATACAATATATAGTATATACTATATATATTATATACAA TATATAGTATATACTATATATATTATATACAATATATAGTATATACTATA TATATTATATACAATATATAATATATACTATATATATTATATACAATATA TAATATATACTATATATATTATATACAATATATAATATATACTATATATA TTATATACAATATATAATATATACTATATATATTATATACAATATATAAT ATATACTATATATATTATATACAATATATAATATATACTATATATATTAT ATACAATATATAATATATACTATATATTATATATACAATATAAAATATAT ATAATATATATTAGATATACAATATATAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(1050): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAG GGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAG GAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGA GGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGG GAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAA AGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGA GGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAA AGGAAGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGG GAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAA AGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGA GGGGGGGA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	322	0.0031	1057	c.597 others(1074): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTT CCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCT TCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTC CCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCC CCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCT TCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCT TTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCTTTCC TTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCT CCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCC TTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTC CCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(1050): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAG GGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAG GAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAAAGGAAGG AGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGG GAGGGAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAG GAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGA AGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGG GAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG AAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGA GGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGG GAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAA AGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGG GAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGA GGGGGGGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18522.hp1 HG02257.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0045 a0001c0001t0002 a0001c0001t0045	a0001c0001t0002g0016 a0001c0001t0045g0015 a0001c0001t0002g0016 a0001c0001t0045g0015	2	322	0.0062	1057	c.597 others(1074): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCT TCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCT TCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTC CCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCC TCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCCTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTC CCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCT CCCTCTTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTC CTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTTCTCCCT CCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCC TTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTC CCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
VEZF1_chr17_57966552_57993254	57969305	G G	GCACTTTG others(1050): Show GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAT CATCCTGGCTAACACGGTGAAACCCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAACAACAACAACAAAGAAAAAAAAAAACAAATGAACA AAAAACCACCCTGATAGTTTTTGTTGTTGTTGTTGTTTTTGAGATGGTGT TTCACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCGGGGTTGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCAATAAGGTGTTTCACTCTTGTTG CCCGGGCTGTAGTGCAATGGCGCGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCACCACCACGCCCCGCTAATTTTTCTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATC CTCCCGCCTCAGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACCGC GCCCGACCCGGTAGAGAATCTTAAGTATAAAACTTCTTTCTCTTATCATG TCATGATAAAAACTATAAGGGCGGGGCTGGGCACGGTGGCTCACGCCTGT AATCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	274	0.0037	1057	c.51 others(1068): Show c.5167_*5168insTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCC CCGCCCTTATAGTTTTTATCATGACATGATAAGAGAAAGAAGTTTTATAC TTAAGATTCTCTACCGGGTCGGGCGCGGTGGCTCATGCCTGTAATCCCAG CACTTTGGAAGGCTGAGGCGGGAGGATCACAAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTA GCGGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCATTGCACTACAGCCCGGGCAACAAGAGTGAAACACCTTATTGGC CGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGC GGGCGGATCACGAGGTCAGGAGATCGAGACCAACCCCGCTAAAACGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGG CGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAGAGTGAAACACCATCTCAAAAACAACAACAACA ACAAAAACTATCAGGGTGGTTTTTTGTTCATTTGTTTTTTTTTTTCTTTG TTGTTGTTGTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCC AGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCTGACCTCGTGATCC ACCCGCCTCGGCCTCCCAAAGTG	VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding		2246		chr17	TogoVar
WDR25_chr14_100371485_100535303	100526932	A A	ATCACCAC others(1050): Show ATCACCACCACCACCACCATTATCACCAGGACCAGCACCATCAGCATCAC TATCTCTATACCCACCACCACCACCACTGTCATCATTGTCACTACCACCA CTCCTGTCATCACCACCACCACCACCATTATCACCAGCACCAGCACCATC AGCATCACTACCACCACCAGTGTCATCACCGCCACCACCACCAGTACCAC CATCAGCATCACTATCTCTATACCCACCACCTCCACTGTCATCATTGTCA CTACCACCACTCCTGTCATCACCACCACCACCACCATTATCACCAGGACC AGCACCATCAGCATCACTACCACCACCAGTGTCATCACCGCCACCATCAC CAGTACCACCATCAGCATCACTATCTCTATACCCACCACCACCACTGTCA TCATTGTCACTACCACCACTACTATCATCACCACCATCACCACTACCACC ACCATTATCACCAGCACCAGCACCATCAGCATCACTACCACCACCAGTGT CATCACCGCCACCACCACCAGTACCACCATCAGCATCACTATCTCTATAC CCACCACCTCCACTGTCATCATTGTCACTACCACCACTACTGTCATCATC ACCATTATCACCAGCACCAGCACCATCAGCATCACTATCTCTATACCCAC CACCACCACCATCATCACCGGCACCACCGCCATTATCACCAGCACCACTG CCATCAGCATCACTATCTCTATACCCACCACCACCACAGTCATCATTGTC ACTACTACCACTCCTGTCATCACCAGCACCACCGCCATTATCACCAGCAC CACCGCCATTATCACCAGCACCACTGCCATCAGCATCACCATCACCATCT TTGTACTCATCACCATCATCGTCACCACCGCGCCACCACCATCACTGCCA CCACTATTATCACTAGCACTACCACCATCAGCATCAGCATCACCATCTGT ATACTCACCACCATTACCATCATCGTCATCACTGCCACCACCATCACCAC TGTCCTCTTTATCTCCAGCACCACCATCATCGTCACTGTCACCATACCAC TCTCATCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02922.hp1 HG02280.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0185 a0001c0001t0001g0186	2	228	0.0088	1057	c.127 others(1074): Show c.1272+902_1272+903insCACCACCATTATCACCAGGACCAGCACC ATCAGCATCACTATCTCTATACCCACCACCACCACCACTGTCATCATTGT CACTACCACCACTCCTGTCATCACCACCACCACCACCATTATCACCAGCA CCAGCACCATCAGCATCACTACCACCACCAGTGTCATCACCGCCACCACC ACCAGTACCACCATCAGCATCACTATCTCTATACCCACCACCTCCACTGT CATCATTGTCACTACCACCACTCCTGTCATCACCACCACCACCACCATTA TCACCAGGACCAGCACCATCAGCATCACTACCACCACCAGTGTCATCACC GCCACCATCACCAGTACCACCATCAGCATCACTATCTCTATACCCACCAC CACCACTGTCATCATTGTCACTACCACCACTACTATCATCACCACCATCA CCACTACCACCACCATTATCACCAGCACCAGCACCATCAGCATCACTACC ACCACCAGTGTCATCACCGCCACCACCACCAGTACCACCATCAGCATCAC TATCTCTATACCCACCACCTCCACTGTCATCATTGTCACTACCACCACTA CTGTCATCATCACCATTATCACCAGCACCAGCACCATCAGCATCACTATC TCTATACCCACCACCACCACCATCATCACCGGCACCACCGCCATTATCAC CAGCACCACTGCCATCAGCATCACTATCTCTATACCCACCACCACCACAG TCATCATTGTCACTACTACCACTCCTGTCATCACCAGCACCACCGCCATT ATCACCAGCACCACCGCCATTATCACCAGCACCACTGCCATCAGCATCAC CATCACCATCTTTGTACTCATCACCATCATCGTCACCACCGCGCCACCAC CATCACTGCCACCACTATTATCACTAGCACTACCACCATCAGCATCAGCA TCACCATCTGTATACTCACCACCATTACCATCATCGTCATCACTGCCACC ACCATCACCACTGTCCTCTTTATCTCCAGCACCACCATCATCGTCACTGT CACCATACCACTCTCATCTTCACCACCAC	WDR25	ENSG00000176473.14	transcript	ENST00000402312.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr14	TogoVar

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Search Results (Total: 10000 hits)