Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SAMD11_chr1_918923_949574	934241	G G	GGCTGCGT others(722): Show GGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGG GGAGGCGGCTGCGTTACTGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTG GGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTA CAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCT GCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGG TGGGCGGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCG TTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCG GCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGG GAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGG GCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTAC AGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTC CGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGG CGGCTCCGTTACAGGTGGGCGGGGGGGGCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	434	0.0023	729	c.843 others(746): Show c.843-1528_843-1527insGCGTTACAGGTGGGCGGGGGAGGCGGCT GCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACTGGTGGGCGGGGGGG GCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGG TGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCTGCTCCGT TACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGG CTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGG AGGCGGCTCCGTTACAGGTGGGCGGGGGGGGGCTGCTCCGTTACAGGTGG GCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTAC AGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTG CGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGG CTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGG GGGAGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGT GGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTT ACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGC T	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934377	G G	GGGCGGCT others(722): Show GGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGG CGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACA GGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGC GTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGC GGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGG GGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGGCTGCTCCGTTACAGGT GGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTT ACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGC TGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGG GGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGC GGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAG GTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCG TTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCT GCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGG GAGGCGGCTGCGTTACAGGTGGGCGGGGGA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0204 a0001c0001t0003g0204	1	434	0.0023	729	c.843 others(746): Show c.843-1388_843-1387insCCGTTACAGGTGGGCGGGGGGGGCGGCT GCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGG GCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCG GGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGG TGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGT TACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGGCT GCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGG GAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGG GCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTAC AGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTC CGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGAGG CGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGG GGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGT GGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTT ACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGC T	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431777	A A	ATAGGGTG others(722): Show ATAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGA CAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGAT AGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGT GGACAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GACAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGACAGGGTGGACAG GGTGGACAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGG AGAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGATAGG GTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGA TAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTT AGGGTGGATAGGGTGGAGAGGGTGGTTAGGGTGGATAGGATGGTTAGGGT GGATAGGGTGGTTAGGGTGGATAGGGTGGT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0262 a0001c0003t0004g0262	1	376	0.0027	729	c.101 others(748): Show c.1014-1182_1014-1181insTTAGGGTGGATAGGATGGTTAGGGTG GACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAG GATGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGA TAGGGTGGATAGGGTGGACAGGGTGGATAGGATGGTTAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGACAGGGTGGATAGGATGGTTAGGGTGGATAGGGT GGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAGA GGGTGGAGAGGGTGGAGAGGGTGGACAGGGTGGACAGGGTGGATAGGGTG GACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAG GGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGTTAGGGTGGATAGGGTGGAGAGGGTGGTTAGGGTGGA TAGGATGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGG TGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431949	T T	TAGAGTGG others(722): Show TAGAGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGTTAGAGTGGATAGGGTGGACAGGGTGGACAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGTTAGAGTGGACAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTG GTTAGAGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGT TAGAGTGGACAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGTTAGAG TGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGTTAGAGTGGACAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGTTAGAGTGGATAGGGTGGAC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0359 a0001c0005t0002g0359	1	376	0.0027	729	c.101 others(748): Show c.1014-1016_1014-1015insAGTGGACAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGAGTGGATAGGGTG GACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGTTAGAGTGGACAGGGTGGATAGG GTGGAGAGGGTGGATAGGGTGGTTAGAGTGGATAGGGTGGACAGGGTGGA CAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGTTAGAGTGGACAGGGTGGATAGGGTGGAGA GGGTGGATAGGGTGGTTAGAGTGGATAGGGTGGACAGGGTGGACAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGAGTGGACAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGAGTGGATAGGGTGGA CAG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1098348	C C	CAGCCCCC others(722): Show CAGCCCCCCTCTAACCCTCTGCACACCCAGGCCCCCCTCTAACCCTCTGC ACACCCAGCCCCCCTCTAACCCTCTGCTCACCAAGCCCCCTTCTAACCCT CTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCTTCTAA CCCTCTGCATGCCCAGGCCCCCTCTAACCCTCTGCACACCCAGCCCCCCT CTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCC CCCTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACGCCCA GGCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCA CCCAGCCCCCTTCTAACCCTCTGCACGCCCAGGCCCCCTCTAACCCTCTG CACGCCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCC TCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCTTCTA ACCCTCTGCACGTCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCT TCTAACCCTCTGCAAGCCCAGCCCCCACAACCCTCTGCAAGCCCAGCCCC CCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCACACCCAG CCCCCCTCTAACCCTCTGCACACCCAGGCCCCCCTCTAACCCTCTGCACA CCCAGCCCCCCTCTAACCCTCTGCTCACCA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0014 a0001c0003t0003g0014	1	118	0.0085	729	c.125 others(746): Show c.125-4101_125-4100insTGGTGAGCAGAGGGTTAGAGGGGGGCTG GGTGTGCAGAGGGTTAGAGGGGGGCCTGGGTGTGCAGAGGGTTAGAGGGG GGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGA GGGGGGCTGGGCTTGCAGAGGGTTGTGGGGGCTGGGCTTGCAGAGGGTTA GAAGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGACGTGCAGAGG GTTAGAAGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGCATGCA GAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGCG TGCAGAGGGTTAGAGGGGGCCTGGGCGTGCAGAGGGTTAGAAGGGGGCTG GGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGG CCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAG GGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTT AGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGCCTGGGCATGCAGAG GGTTAGAAGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGC AGAGGGTTAGAAGGGGGCTTGGTGAGCAGAGGGTTAGAGGGGGGCTGGGT GTGCAGAGGGTTAGAGGGGGGCCTGGGTGTGCAGAGGGTTAGAGGGGGGC T	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(722): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATACATAAATATAAAT ATATTATATATATTATATATAAATATAAATATATTATATATTATATAAAT ATAAATATATTATATATAATATATAATATAAATATATTATATATAATATA TATAATATATATATTATATATAATATATATAATATATATATTATATATAT TATATATAATATATATAATATAAATATATTATATATAATATATATAATAT AAATATATTATATATAATATATATAATATAAATATATTATATATATTATA TATAATATAAATATATTATATATATTATATATAATATAAATATATTATAT ATATTATATATAATATAAATATATTATATATAATATATATAATATAAATA TATTATATATAATATATATAATATAAATATATTATATATATTATATATAA TATAAATATATTATATATATTATATATAATATAAATATATTATATATATT ATATATAATATAAATATATTATATATATTATATATAATATAAATATATTA TATATATTATATATAATATAAATATATTATATATATTATATATAATATAA ATATATTATATATATTATATATAATATAAATATATTATATATATTATATA TAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0224 a0001c0001t0003g0224	1	346	0.0029	729	c.-70 others(746): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTATATATATTATATATAA TATATTTATATTATATATATTATATATAATATATTTATATTATATATAAT ATATATAATATATTTATATTATATATAATATATATAATATATTTATATTA TATATAATATATATAATATATTTATATTATATATATTATATATAATATAT TTATATTATATATATTATATATAATATATTTATATTATATATATTATATA TAATATATATAATATATATATTATATATATTATATATAATATATATATTA TATATATTATATATAATATATTTATATTATATATTATATATAATATATTT ATATTTATATAATATATAATATATTTATATTTATATATAATATATATAAT ATATTTATATTTATGTATAATATATATAATATATTTATATTTATGTATAA TATATATAATATATTTATATTTATGTATAATATATATAATATATTTATAT T	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(722): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GGGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGA GGAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGGGGGAGGAAAGGA AGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGGGATGAAAGGAAGGAGGGAGGAAAG GAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGA AGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGG GAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAAG GAGGGAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0092	a0001c0001t0092g0286 a0001c0001t0092g0286	1	322	0.0031	729	c.597 others(746): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCT TCCTTTCCTCCCTCCTTCCTTTCATCCCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTC CTTCCTTTCCTCCCCCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCTTTCCTTTCCTCCCTCCTTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCC CCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTC CCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCC TCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCC TCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCT C	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
TMEM120B_chr12_121707752_121787068	121747289	G G	GCTGGGGT others(722): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAA AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGGTAGAAGGT GGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCT GGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTA GAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGG GAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGG TAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGT GGGAGGCACTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0019 a0001c0001t0069g0019	1	314	0.0032	729	c.189 others(746): Show c.189-1024_189-1023insTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAAAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGG TAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGT GGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCA CTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTA GAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGA GGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGG TAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAG G	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM178B_chr7_141069064_141485380	141337038	C C	CCATCACC others(722): Show CCATCACCACCACCACCATCACCACCACCACCATCACCACCACCACCATC ACTACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCAC CATCACCACCACCACCATCACTACCACCACCACCACCACCACCATCACCA CCACCATCACCACCACCACCATCACCACCACCACCATCACCACCACCACC ACCACCACCACCATCACCACCACCATCACCACCATCACCACCACCACCAT CACTACCACCACCATCACCACCACCACCATCACTACCATCATCATCACCA CCACCACCATCACTACCACCATCACCACCACCACCATCACCACCACCACC ACCACCACCACCATCACCACCACCACCATCACTACCACCACCACCACCAC CACCATCACCACCACCATCACCACCACCACCATCACCACCACCACCATCA CCACCACCACCACCACCACCACCATCACCACCACCATCACCACCATCACC ACCACCACCATCACTACCACCACCATCACCACCACCACCATCACCACCAC CACCACCACCACCACCATCACCACCACCACCATCACTACCACCACCACCA CCACCACCATCACCACCACCATCACCACCACCACCATCACCACCACCACC ATCACCACCACCACCACCACCACCACCATCACCACCACCATCACCACCAT CACCACCACCACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0005 a0001c0005t0001g0005	1	80	0.0125	729	c.497 others(750): Show c.497-100568_497-100567insTCACCACCACCACCATCACCACCA CCACCATCACCACCACCACCATCACTACCACCATCACCACCACCACCATC ACCACCACCACCACCACCACCACCATCACCACCACCACCATCACTACCAC CACCACCACCACCACCATCACCACCACCATCACCACCACCACCATCACCA CCACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCATC ACCACCATCACCACCACCACCATCACTACCACCACCATCACCACCACCAC CATCACTACCATCATCATCACCACCACCACCATCACTACCACCATCACCA CCACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACC ATCACTACCACCACCACCACCACCACCATCACCACCACCATCACCACCAC CACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCATCA CCACCACCATCACCACCATCACCACCACCACCATCACTACCACCACCATC ACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCAC CACCATCACTACCACCACCACCACCACCACCATCACCACCACCATCACCA CCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACC ATCACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCAC CATCA	TMEM178B	ENSG00000261115.7	transcript	ENST00000565468.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
TNS1_chr2_217794791_218007995	217805592	C C	CCACCACA others(722): Show CCACCACACACCACACACACCACCACACACACACCACCACACACACCACC ACACACACCACACACACAACACCACACACCACACACACACCACCACACAC CACCACACACCACACACACCACCACACACACACCACCACACACACACCAC ACACCACACACACATACACCACCACACACCACCACACACACCACACACAC AACACACACCACCACACACCACACACACCACCACACACACCACCACACAC ACACCACACACCATACACACACTACCACACACCACCACACACCACCACAC ACACCACACACACAGCACCACACACACACCACCACACACAACACACACCA CACACACCACCACACACATACCACCACACACACCACCACACACATACACA CCACACCACCACCACATACATACACACCACACACCACCACACACATACAC ACACACCACCACACACATACACACCACACACACTACCACCGCATACATAC ACACCACACACGCCACCACATACATACCACACACACATACACACCACCCA CACACCACCACACACACCACCACCACACTCATACACACCACACACACCAC CACACACACACCACCACATACATACACACCACACACATACCACCACACAC ACACCATCACGCACACCACCACATACACACACCACAGACATACCACCACA CACATACCATCACACACCACTACGCACACA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0031 a0031	a0031c0097 a0031c0097	a0031c0097t0052 a0031c0097t0052	a0031c0097t0052g0150 a0031c0097t0052g0150	1	244	0.0041	729	c.537 others(746): Show c.5376-990_5376-989insTGTGTGCGTAGTGGTGTGTGATGGTATG TGTGTGGTGGTATGTCTGTGGTGTGTGTATGTGGTGGTGTGCGTGATGGT GTGTGTGTGGTGGTATGTGTGTGGTGTGTATGTATGTGGTGGTGTGTGTG TGGTGGTGTGTGTGGTGTGTATGAGTGTGGTGGTGGTGTGTGTGGTGGTG TGTGGGTGGTGTGTATGTGTGTGTGGTATGTATGTGGTGGCGTGTGTGGT GTGTATGTATGCGGTGGTAGTGTGTGTGGTGTGTATGTGTGTGGTGGTGT GTGTGTATGTGTGTGGTGGTGTGTGGTGTGTATGTATGTGGTGGTGGTGT GGTGTGTATGTGTGTGGTGGTGTGTGTGGTGGTATGTGTGTGGTGGTGTG TGTGGTGTGTGTTGTGTGTGGTGGTGTGTGTGTGGTGCTGTGTGTGTGGT GTGTGTGGTGGTGTGTGGTGGTGTGTGGTAGTGTGTGTATGGTGTGTGGT GTGTGTGTGGTGGTGTGTGTGGTGGTGTGTGTGGTGTGTGGTGGTGTGTG TTGTGTGTGTGGTGTGTGTGGTGGTGTGTGGTGGTGTATGTGTGTGTGGT GTGTGGTGTGTGTGTGGTGGTGTGTGTGTGGTGGTGTGTGTGGTGTGTGG TGGTGTGTGGTGGTGTGTGTGTGGTGTGTGGTGTTGTGTGTGTGGTGTGT GTGGTGGTGTGTGTGGTGGTGTGTGTGTGGTGGTGTGTGTGGTGTGTGGT G	TNS1	ENSG00000079308.21	transcript	ENST00000682258.1	protein_coding	32/32			chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870987	A A	ACACCCCA others(722): Show ACACCCCACACACACCACACACCCCACACACACCACACACCCCCACACAC ACCACACCCCACACACACCACACCCCACACACACCACACCCCATACACAC CACACCCCACACACACCACACCCCACACACACCACACCCCATACACACCA CACCCCACACACACCACACACCCCACACACACCACACAAACCACACACCC TACACACCCCACACACACCACACACACACATCACATACCACACACACATC ACATACCACACACAAACCACACACCACACACACACCACACACCCCACACA CACATCACATACCACACACAAACCACACACCCAACACACACATCACACAC CACACACCCCACACACACATCACATACCACACACAAACCACACACCCTAC ACACACCACACACCCCACACACACATCACACACCACACACACCACACACA CCCCACACACACCACACACACACATCACATACCACACACCCGACACCGCC ACACACACACCACACACCCCACGCACACATCACATACCACACACAAACCA CACACCCTACACACACCACACACCCCACACACACCACACACACACACCAC ACACACATCACATACCACACACAAACCACACACCCCCACACACCCCACAC ACCCCACACACACCACACACCCCACACACACACCACACACCCCACACACA CATCACATACCACACACAAACCACACACCC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	338	0.0030	729	c.35 others(748): Show c.35+22257_*35+22258insCCCACACACACCACACACCCCACACA CACCACACACCCCCACACACACCACACCCCACACACACCACACCCCACAC ACACCACACCCCATACACACCACACCCCACACACACCACACCCCACACAC ACCACACCCCATACACACCACACCCCACACACACCACACACCCCACACAC ACCACACAAACCACACACCCTACACACCCCACACACACCACACACACACA TCACATACCACACACACATCACATACCACACACAAACCACACACCACACA CACACCACACACCCCACACACACATCACATACCACACACAAACCACACAC CCAACACACACATCACACACCACACACCCCACACACACATCACATACCAC ACACAAACCACACACCCTACACACACCACACACCCCACACACACATCACA CACCACACACACCACACACACCCCACACACACCACACACACACATCACAT ACCACACACCCGACACCGCCACACACACACCACACACCCCACGCACACAT CACATACCACACACAAACCACACACCCTACACACACCACACACCCCACAC ACACCACACACACACACCACACACACATCACATACCACACACAAACCACA CACCCCCACACACCCCACACACCCCACACACACCACACACCCCACACACA CACCACACACCCCACACACACATCACATACCACACACAAACCACACACCC CAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TXNDC16_chr14_52425596_52557505	52530465	T T	TAATAATA others(722): Show TAATAATATAATATATATTATTATATATTATTATATATAATAATATAATA TATATTATATATAATTATATATAATAATATAATATATATTATTATATATA ATATTATATAATAATATAATATATATTATTATATATATTATATAATAATA TAATATATATTATTATATATATACCTATTATATATATATATATATATTAT ATATATATATATATATATATAATATATACCTATATATATATATACCTATA TATATATTATATATATATAATAATATATATAATATTATTATATATAATAA TATAATATATATTATTATATATTATTATATATAATAATATAATATATATT ATTATATATAATTATATATAATAATATATATTATATTATTATATATAATT ATATATAATAATATATATATTATTATATATAATTATATATAATATATATA TATTATTATATATAATTATATATAATAATATATATTATATTATTATATAT AATTATATATAATAATATATATATATTATTATATATTATTATATATAATA ATATAATATATTATTATATATTATTATATATAATAATATAATATATATTA TATATTATTATATATAATAATATAATATATATTATATATTATTATATATA ATAATATAATATATATATTATATAATTATATATAATAATATAATATATAT TATTATATATTATTATATATAATAATATAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	238	0.0042	729	c.392 others(746): Show c.392+6253_392+6254insTTATATTATTATATATAATAATATATAA TAATATATATTATATTATTATATATAATTATATAATATATATATTATATT ATTATATATAATAATATATAATATATATTATATTATTATATATAATAATA TATAATATATATTATATTATTATATATAATAATATATAATAATATATTAT ATTATTATATATAATAATATATAATAATATATATATATTATTATATATAA TTATATATAATAATATAATATATATTATTATATATAATTATATATAATAA TATATATATATTATATATAATTATATATAATAATATATATATTATTATAT ATAATTATATATAATAATATAATATATATTATTATATATAATTATATATA ATAATATATATTATATTATTATATATAATAATATATAATAATATATATTA TATTATTATATATAATAATATTATATATATTATTATATATATATAATATA TATATAGGTATATATATATATAGGTATATATTATATATATATATATATAT ATATAATATATATATATATATATAATAGGTATATATATAATAATATATAT TATATTATTATATAATATATATAATAATATATATTATATTATTATATAAT ATTATATATAATAATATATATTATATTATTATATATAATTATATATAATA TATATTATATTATTATATATAATAATATATAATAATATATATTATATTAT T	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
UMAD1_chr7_7635752_7884223	7679065	T T	TATAAATA others(722): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATT TATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGA TAAATATATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0195 a0001c0001t0007g0195	1	250	0.0040	729	c.82+ others(744): Show c.82+5617_82+5618insTATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATTTA TAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTAT ATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAA ATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTA GTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VCX_chrX_7838171_7849143	7844242	G G	GGGGAGGG others(722): Show GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0085 a0001c0085	a0001c0085t0001 a0001c0085t0001	a0001c0085t0001g0012 a0001c0085t0001g0012	1	341	0.0029	729	c.22 others(738): Show c.226_*227insGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGA AGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGG AGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		100		chrX	TogoVar
VEGFB_chr11_64229584_64244264	64237115	G G	GGGAGAGG others(722): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGAGAGGGAGAGACAGAC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	328	0.0031	729	c.375 others(742): Show c.375-72_375-71insGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGACAGAC	VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6			chr11	TogoVar
ZNF16_chr8_144925358_144955880	144946810	G G	GCTGTGTC others(722): Show GCTGTGTCCTGCTGTGGGCTGTGTCTGCTGTTGGGCTTGTGTCCTGCTGT GGGCCTGTGTCCTGCTGTGGGCCTGTGTCCTGCTGTGGGGCTGTGTCCTG CTGTGGGGCTGTTGTCCTGCTGTGGGCCTGTGTCCTGCTGTTGGGCTTGT GTCCTGCTGTTGGGCTTGTGTCCTGCTGTGGGGCCTGTGTCCTGCTGTGG GCCTGTGTCCTGCTGTGGGCCTGTGTCCTGCTGTTGGGCTTGTGTCCTGC TGTTGGGCTTGTGTCCTGCTGTGGGGCCTGTGTCCTGCTGTGGGGCCTGT ACCCTGCTGTGGGCCATACCCTTCTGTGGGCCTGTACCCTGCTGTGGCCT GTGTCCTGCTGTGGGCCTGTGTCCTGCTGTGGGGCTGTGTCCTGCTGTGG GCCTGTATCCTGCTGTTGGGCCTGTGTCCTGCTGTTGGGCCTGTGTCCTG CTGTGGGCCTGTACCCTACTGTGGGCCATACCTGCTGTGGGCCTGTGTCC TGCTGTGGGGCCTGTACCCTGCTGTGGGCCATACCCTTCTGTGGGCCTGT ACCCTGCTGTGGGCCTGTGTCCTGCTGTGGGCCTGTATCCTGCTGTTGGG CTTGTGTCCTGCTGTTGGGCTTGTGTCCTGCTGTGGGGCCTGTGTCCTGC TGTGGGGCCTGTACCTGCTGTGGGCCTGTACCCTGCTGCGGGCCTGTATC CTGCTGTGGGCCTGTGTCCTGTTGTGGGGC	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0091 a0001c0002t0001g0091	1	404	0.0025	729	c.-9- others(742): Show c.-9-596_-9-595insGCCCCACAACAGGACACAGGCCCACAGCAGGA TACAGGCCCGCAGCAGGGTACAGGCCCACAGCAGGTACAGGCCCCACAGC AGGACACAGGCCCCACAGCAGGACACAAGCCCAACAGCAGGACACAAGCC CAACAGCAGGATACAGGCCCACAGCAGGACACAGGCCCACAGCAGGGTAC AGGCCCACAGAAGGGTATGGCCCACAGCAGGGTACAGGCCCCACAGCAGG ACACAGGCCCACAGCAGGTATGGCCCACAGTAGGGTACAGGCCCACAGCA GGACACAGGCCCAACAGCAGGACACAGGCCCAACAGCAGGATACAGGCCC ACAGCAGGACACAGCCCCACAGCAGGACACAGGCCCACAGCAGGACACAG GCCACAGCAGGGTACAGGCCCACAGAAGGGTATGGCCCACAGCAGGGTAC AGGCCCCACAGCAGGACACAGGCCCCACAGCAGGACACAAGCCCAACAGC AGGACACAAGCCCAACAGCAGGACACAGGCCCACAGCAGGACACAGGCCC ACAGCAGGACACAGGCCCCACAGCAGGACACAAGCCCAACAGCAGGACAC AAGCCCAACAGCAGGACACAGGCCCACAGCAGGACAACAGCCCCACAGCA GGACACAGCCCCACAGCAGGACACAGGCCCACAGCAGGACACAGGCCCAC AGCAGGACACAAGCCCAACAGCAGACACAGCCCACAGCAGGACACAG	ZNF16	ENSG00000170631.15	transcript	ENST00000394909.7	protein_coding	1/2			chr8	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(722): Show CCCTCCCCCTTCCTCATCCCCTTCCCCTCCCCTTCTTCCTCTCCTCCTCC CTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTTC CTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCTC CTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCC CCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCTTCCCCT TCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTCTCCTCCTCCCTCC CCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACCCTCCT CCCTCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCCCTC CCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTC TCCCCTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCT CTCCTCCCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTC CCTTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCAT CTTCCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCA CCTGTCCCTCCCCTCTCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	322	0.0031	729	c.4-1 others(742): Show c.4-1376_4-1375insCCTTCCTCATCCCCTTCCCCTCCCCTTCTTCC TCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCT CCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTC CTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCC CCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCC TCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTCTC CTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCC CCTACCCTCCTCCCTCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCC TCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCC TCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTTCCC CTCTCTTCCTCTCCCCTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCT CCTCTTCCCCTCTCCTCCCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTC CCCTCCCCTTCCCTTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCT CCCCTCCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTC TCCTCCCCTCACCTGTCCCTCCCCTCTCCCCTTCCCCCTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(722): Show GTATATATACATGTATATATATACAAGTATATATACATGTATATATATAC GTATATATATATACTTGTATACATATATACTATATATATACATATATACA CATATATACGTATATATGTGTATATATACATATATACATGTATATACGTA TATACATGTATATACGTATATATACACGTATATATACACGTATATATACG TATATATACACATATATACATGTATATATACGTGTATATATACACATATA TACGTGTATATATACGTATATATACACATATATACGTGTATATATATACG TATATATACACATATATACGTATATATATACGTATATATACATGTATATA TACGTACGTATATATACATGTATATATACGTACGTATATATACATGTATA TATACGTACGTATATATACATGTATATATACGTATATATATACGTATATA TGTGTATATATACGTATATATATACACGTATATATACACATATATACATG TATATATATACGTATATATACACATATATACATGTATATATATACGTATA TATACATATATACGTATATATATACGTATATATACATATATACATGTATA TATATATATACGTATATATACATGTATATATATATACGTATATATACATA TATACATGTATATATATATACGTATATACACATATATATACATGTATATA TATGTGTATATATACATGTATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02809.hp2 HG02965.hp2 others(3): Show HG02622.hp1 HG02809.hp2 HG02965.hp2 HG03041.hp1 HG03139.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 others(3): Show a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0206	6	383	0.0157	729	c.-42 others(740): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA CATGTATATATATACGTATATATATATACTTGTATACATATATACTATAT ATATACATATATACACATATATACGTATATATGTGTATATATACATATAT ACATGTATATACGTATATACATGTATATACGTATATATACACGTATATAT ACACGTATATATACGTATATATACACATATATACATGTATATATACGTGT ATATATACACATATATACGTGTATATATACGTATATATACACATATATAC GTGTATATATATACGTATATATACACATATATACGTATATATATACGTAT ATATACATGTATATATACGTACGTATATATACATGTATATATACGTACGT ATATATACATGTATATATACGTACGTATATATACATGTATATATACGTAT ATATATACGTATATATGTGTATATATACGTATATATATACACGTATATAT ACACATATATACATGTATATATATACGTATATATACACATATATACATGT ATATATATACGTATATATACATATATACGTATATATATACGTATATATAC ATATATACATGTATATATATATATACGTATATATACATGTATATATATAT ACGTATATATACATATATACATGTATATATATATACGTATATACACATAT ATATACATGTATATATATGTGTATATATACATGTATATATACACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ADAMTS16_chr5_5135330_5325304	5305385	A A	ACACTTCC others(723): Show ACACTTCCCACACCACACACACACAAATCCCACACCAGACACACACACAT CCCACACCACACACACACACCACACACACCACACCACAGACACACACATC CCACACCACACACCCCCCACACACACACATCCCACACCACACACAGACAT CCCACACCACACACACATCCCACACCACACACACACACATCCCGCACCAC ACACTCACACATCCCACACCACACATACACATCCCACACCGCACACACAT ACCACACCACACACACACACATCCCACACCACACACACACACATCCCACA CCACACACATCCACACCACACACACACACATCCCACACCAGACACACACA TCCCACACACACACACACATCCCACATCACACACACAATCACAAACACAC ATCCCACACCACACACACATCCCACACCACACACACACATCCCACACACA CACACACCCACCACACACACACACACATCCCACACCACACACACAATCCC ACACCACACACACACACAATCCCACACCACACACACACATCCCATACCAC ACACACATCCCACGCCACACACACACACACACCCCACACCACACACACAT CCCACACCACACACATCCACACCACACACACACATCCCACACCACACATA CACACACACATCCCATACCACACACATCCCACACCACACACACATCCCAC ACCACACACACATCCCACACCACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03041.hp1 HG02055.hp1 HG03041.hp1	a0004 a0004	a0004c0004 a0004c0009 a0004c0004 a0004c0009	a0004c0004t0001 a0004c0009t0015 a0004c0004t0001 a0004c0009t0015	a0004c0004t0001g0127 a0004c0009t0015g0140 a0004c0004t0001g0127 a0004c0009t0015g0140	2	332	0.0060	730	c.318 others(749): Show c.3187-1119_3187-1118insCACTTCCCACACCACACACACACAAA TCCCACACCAGACACACACACATCCCACACCACACACACACACCACACAC ACCACACCACAGACACACACATCCCACACCACACACCCCCCACACACACA CATCCCACACCACACACAGACATCCCACACCACACACACATCCCACACCA CACACACACACATCCCGCACCACACACTCACACATCCCACACCACACATA CACATCCCACACCGCACACACATACCACACCACACACACACACATCCCAC ACCACACACACACACATCCCACACCACACACATCCACACCACACACACAC ACATCCCACACCAGACACACACATCCCACACACACACACACATCCCACAT CACACACACAATCACAAACACACATCCCACACCACACACACATCCCACAC CACACACACACATCCCACACACACACACACCCACCACACACACACACACA TCCCACACCACACACACAATCCCACACCACACACACACACAATCCCACAC CACACACACACATCCCATACCACACACACATCCCACGCCACACACACACA CACACCCCACACCACACACACATCCCACACCACACACATCCACACCACAC ACACACATCCCACACCACACATACACACACACATCCCATACCACACACAT CCCACACCACACACACATCCCACACCACACACACATCCCACACCACACAC ACAC	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	20/22			chr5	TogoVar
ADAMTS16_chr5_5135330_5325304	5305385	A A	ACACTTCC others(723): Show ACACTTCCCACACCACACACACACAAATCCCACACCAGACACACACACAT CCCACACCACACACACACACCACACACACCACACCACAGACACACACATC CCACACCACACACCCCCCACACACACACATCCCACACCACACACAGACAT CCCACACCACACACACATCCCACACCACACACACACACATCCCGCACCAC ACACTCACACATCCCACACCACACATACACATCCCACACCGCACACACAT ACCACACCACACACACACACATCCCACACCACACACACACACATCCCACA CCACACACATCCACACCACACACACACACATCCCACACCAGACACACACA TCCCACACACACACACACATCCCACATCACACACACAATCACAAACACAC ATCCCACACCACACACACATCCCACACCACACACACACATCCCCCACACA CACACACCCACCACACACACACACACATCCCACACCACACACACAATCCC ACACCACACACACACACAATCCCACACCACACACACACATCCCATACCAC ACACACATCCCACGCCACACACACACACACACCCCACACCACACACACAT CCCACACCACACACATCCACACCACACACACACATCCCACACCACACATA CACACACACATCCCATACCACACACATCCCACACCACACACACATCCCAC ACCACACACACATCCCACACCACACACACAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0016 a0003c0006t0016	a0003c0006t0016g0172 a0003c0006t0016g0172	1	332	0.0030	730	c.318 others(749): Show c.3187-1119_3187-1118insCACTTCCCACACCACACACACACAAA TCCCACACCAGACACACACACATCCCACACCACACACACACACCACACAC ACCACACCACAGACACACACATCCCACACCACACACCCCCCACACACACA CATCCCACACCACACACAGACATCCCACACCACACACACATCCCACACCA CACACACACACATCCCGCACCACACACTCACACATCCCACACCACACATA CACATCCCACACCGCACACACATACCACACCACACACACACACATCCCAC ACCACACACACACACATCCCACACCACACACATCCACACCACACACACAC ACATCCCACACCAGACACACACATCCCACACACACACACACATCCCACAT CACACACACAATCACAAACACACATCCCACACCACACACACATCCCACAC CACACACACACATCCCCCACACACACACACCCACCACACACACACACACA TCCCACACCACACACACAATCCCACACCACACACACACACAATCCCACAC CACACACACACATCCCATACCACACACACATCCCACGCCACACACACACA CACACCCCACACCACACACACATCCCACACCACACACATCCACACCACAC ACACACATCCCACACCACACATACACACACACATCCCATACCACACACAT CCCACACCACACACACATCCCACACCACACACACATCCCACACCACACAC ACAC	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	20/22			chr5	TogoVar
ADCY1_chr7_45569368_45728116	45610760	A A	AGAGGTGA others(723): Show AGAGGTGATGGTGAAGGTGAGGAGGTGATGATGGAGGGGTGGAGGTGATG GTGGAGGTGATGGCGGAGGTGAAGGGGTGATGATGGAGATGAGGTGATGG TGGAGGTGAAGGGGTGATGGTGGAGGTGGGGAGGTGATGGTGGAGGTGAA AGGGTGATGATGGAGGTGTGGAGGTGATGGTGGAAGCGTGGAGGTGATAG TGGAGGTGTGGAGGTGAAGGGGTGATGGTGAAGGTGTGGAGGTGATGGTG GAGGTGAGGTGATGGTGGAAGTGTGGAGGTGATGGTGGAGGTGGGGAGGT GATGGTGGAGGTTAGGAGGTGATGGTGGATATGGGGAGGTGATGGTGGAT GTGTGGGGGTGATAGTGAAGGTGAGGAGGTGATAGTGGAAATGTGGAGGT TATGGTAGAGGTGGGGAGGTGATGGTGGAGGTGGGGAGGTGATGGTGGAG GGGGGAGGTGATGGTGGAGGTTAGGAAGTGATGGTGGAGGTGAGGAGGTG ATGGTGGAGGTGAGGAGGTGATGGAGGTGGGAAGGTGATGGTGGAGGCGG GGAGGTGATAGTGGAAGTATGGAGGTGACATTGGAGGTGAGGAGGTGATA GTGGAGCTGTTGAGGTGATGGTGGAGGTGTGGAGGTGATGGTGGAGGTGG GGAGGTGATAGTGGAAGTGTGGAGGTGATGGTGGAGGTGTGGAGGTGATG GCGGAGTTGGAGAAGTGATGATGGAAGTGAG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	278	0.0036	730	c.908 others(745): Show c.908+271_908+272insGGTGAAGGTGAGGAGGTGATGATGGAGGGG TGGAGGTGATGGTGGAGGTGATGGCGGAGGTGAAGGGGTGATGATGGAGA TGAGGTGATGGTGGAGGTGAAGGGGTGATGGTGGAGGTGGGGAGGTGATG GTGGAGGTGAAAGGGTGATGATGGAGGTGTGGAGGTGATGGTGGAAGCGT GGAGGTGATAGTGGAGGTGTGGAGGTGAAGGGGTGATGGTGAAGGTGTGG AGGTGATGGTGGAGGTGAGGTGATGGTGGAAGTGTGGAGGTGATGGTGGA GGTGGGGAGGTGATGGTGGAGGTTAGGAGGTGATGGTGGATATGGGGAGG TGATGGTGGATGTGTGGGGGTGATAGTGAAGGTGAGGAGGTGATAGTGGA AATGTGGAGGTTATGGTAGAGGTGGGGAGGTGATGGTGGAGGTGGGGAGG TGATGGTGGAGGGGGGAGGTGATGGTGGAGGTTAGGAAGTGATGGTGGAG GTGAGGAGGTGATGGTGGAGGTGAGGAGGTGATGGAGGTGGGAAGGTGAT GGTGGAGGCGGGGAGGTGATAGTGGAAGTATGGAGGTGACATTGGAGGTG AGGAGGTGATAGTGGAGCTGTTGAGGTGATGGTGGAGGTGTGGAGGTGAT GGTGGAGGTGGGGAGGTGATAGTGGAAGTGTGGAGGTGATGGTGGAGGTG TGGAGGTGATGGCGGAGTTGGAGAAGTGATGATGGAAGTGAGGAGGTGAT	ADCY1	ENSG00000164742.16	transcript	ENST00000297323.12	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADCY1_chr7_45569368_45728116	45610760	A A	AGAGGTGA others(723): Show AGAGGTGATGGTGAAGGTGAGGTGATGATGGAGGGGTGGAGGTGATGGTG GAGGTGATGGCGGAGGTGAAGGGGTGATGATGGAGATGAGGTGATGGTGG AGGTGAAGGGGTGATGGTGGAGGTGGGGAGGTGATGGTGGAGGTGAAAGG GTGATGATGGAGGTGTGGAGGTGATGGTGGAAGCGTGGAGGTGATAGTGG AGGTGTGGAGGTGAAGGGGTGATGGTGAAGGTGTGGAGGTGATGGTGGAG GTGAGGAGGTGATGGTGGAAGTGTGGAGGTGATGGTGGAGGTGGGGAGGT GATGGTGGAGGTTAGGAGGTGATGGTGGATATGGGGAGGTGATGGTGGAT GTGTGGGGGTGATAGTGAAGGTGAGGAGGTGATAGTGGAAATGTGGAGGT TATGGTAGAGGTGGGGAGGTGATGGTGGAGGTGGGGAGGTGATGGTGGAG GGGGGAGGTGATGGTGGAGGTTAGGAAGTGATGGTGGAGGTGAGGAGGTG ATGGTGGAGGTGAGGAGGTGATGGAGGTGGGAAGGTGATGGTGGAGGCGG GGAGGTGATAGTGGAAGTATGGAGGTGACATTGGAGGTGAGGAGGTGATA GTGGAGCTGTTGAGGTGATGGTGGAGGTGTGGAGGTGATGGTGGAGGTGG GGAGGTGATAGTGGAAGTGTGGAGGTGATGGTGGAGGTGTGGAGGTGATG GCGGAGTTGGAGAAGTGATGATGGAAGTGAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0014 a0001c0002t0011g0014	1	278	0.0036	730	c.908 others(745): Show c.908+271_908+272insGGTGAAGGTGAGGTGATGATGGAGGGGTGG AGGTGATGGTGGAGGTGATGGCGGAGGTGAAGGGGTGATGATGGAGATGA GGTGATGGTGGAGGTGAAGGGGTGATGGTGGAGGTGGGGAGGTGATGGTG GAGGTGAAAGGGTGATGATGGAGGTGTGGAGGTGATGGTGGAAGCGTGGA GGTGATAGTGGAGGTGTGGAGGTGAAGGGGTGATGGTGAAGGTGTGGAGG TGATGGTGGAGGTGAGGAGGTGATGGTGGAAGTGTGGAGGTGATGGTGGA GGTGGGGAGGTGATGGTGGAGGTTAGGAGGTGATGGTGGATATGGGGAGG TGATGGTGGATGTGTGGGGGTGATAGTGAAGGTGAGGAGGTGATAGTGGA AATGTGGAGGTTATGGTAGAGGTGGGGAGGTGATGGTGGAGGTGGGGAGG TGATGGTGGAGGGGGGAGGTGATGGTGGAGGTTAGGAAGTGATGGTGGAG GTGAGGAGGTGATGGTGGAGGTGAGGAGGTGATGGAGGTGGGAAGGTGAT GGTGGAGGCGGGGAGGTGATAGTGGAAGTATGGAGGTGACATTGGAGGTG AGGAGGTGATAGTGGAGCTGTTGAGGTGATGGTGGAGGTGTGGAGGTGAT GGTGGAGGTGGGGAGGTGATAGTGGAAGTGTGGAGGTGATGGTGGAGGTG TGGAGGTGATGGCGGAGTTGGAGAAGTGATGATGGAAGTGAGGAGGTGAT	ADCY1	ENSG00000164742.16	transcript	ENST00000297323.12	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(723): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCGTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATCCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATTCACC CACCCACTCATCCATCCACCCATCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCATCCATTCATCCATCCACCCATCCATTCA TCCATTCACCCACCCACTCATCCATCCACCCATCCATTCACCCACCCATT TACCTACCCATTAATTCACCCACCCTTCCACCACCCACCCACCCATCCAT ATACCCACCCACCCATTCACCCATCCATTCATCCATCCACCCACCCACCC ATTCACCCACCCACCCAGCCATCTCACCCATTCACCCATCCACTCATCCA TTCACCTATCCACCCACCCATCCACTCATCC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0233 a0001c0001t0044g0233	1	262	0.0038	730	c.775 others(745): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGTGAATGGATGGGTGGATGGATGAGTGGGTGGGTGAATGG ATGAATGGATGGGTGGATGGATGAATGGATGGGTGAATGGATGAATGGAT GGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGG ATGAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAGTGGGT GGGTGAATGGATGAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGG ATGAATGGATGGGTGGATGGATGAATGGGTGGGTGGATGGATGAATGGAT GGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGG ATGAATGGGTGGGTGAATGGATGAATGGGTGGGTGGATGGATGAGTGGAC GGGTGAATTGATGGGTGGGTGGGTATATGGATGGGTGGGTGGGTGGGTGG TGGAACGGTGGGTGAATGGATGGGTTGATAAATGGGTGGGCGAATGGATG GGTGGATGGATGAGTGGATGGTGAATGGATGGGTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
AFF2_chrX_148495617_149005663	148581231	T T	TATGTATA others(723): Show TATGTATACGTATACACACATATACGTATACGTATACACACATATACGTA TACGTATACACACATATACGTATACGTATACACACATATACGTATACGTA TACACACATATACGTATACGTATACACACATATACGTATACGTGTACACA CATATACACGTATATACGTATACGTGTACGCACACATATACACGTATATA CGTATACGTGTACGCACATATATATACACGTATATACGTATACGTGTACG CACACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTG TACACACACACGTATATACGTATACGTGTACACACACACGTATATACGTA TACGTGTACACACACACGTATATACGTATACGTGTACACACACACGTATA TACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACACA CGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACA CACACACGTATATACGTATACGTGTACACACACACGTATATACGTATACG TGTACACACACATACACGTATATACGTATACGTGTACACACACATACACG TATATACGTATACGTGTACACACACATACACGTATATACCTATACGTGTA CACACATATACCTATACGTGTACACACATATACACGTATACGTGTACACA CATATACACGTATACGTGTACACACATATAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0015 a0001c0001t0066g0015	1	169	0.0059	730	c.48- others(747): Show c.48-70767_48-70766insTGTATACGTATACACACATATACGTATA CGTATACACACATATACGTATACGTATACACACATATACGTATACGTATA CACACATATACGTATACGTATACACACATATACGTATACGTATACACACA TATACGTATACGTGTACACACATATACACGTATATACGTATACGTGTACG CACACATATACACGTATATACGTATACGTGTACGCACATATATATACACG TATATACGTATACGTGTACGCACACGTATATACGTATACGTGTACACACA CACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGTA CACACACACGTATATACGTATACGTGTACACACACACGTATATACGTATA CGTGTACACACACACGTATATACGTATACGTGTACACACACACGTATATA CGTATACGTGTACACACACACGTATATACGTATACGTGTACACACACACG TATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACA CACACGTATATACGTATACGTGTACACACACATACACGTATATACGTATA CGTGTACACACACATACACGTATATACGTATACGTGTACACACACATACA CGTATATACCTATACGTGTACACACATATACCTATACGTGTACACACATA TACACGTATACGTGTACACACATATACACGTATACGTGTACACACATATA CA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGAAG others(723): Show GAAGGAAGGGGAAGGGAAGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAA GGGAAAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAG GGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAG GGAAGGGGAAGGGAAGGGAAGGAAGGGGAAAGGGAAGGGGAAAAGGAAGG GAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAGGGAAGGG GAAGGGAAGGGAAGGGAATGGGACAAGGAAGGGGAAGGGAAAAGGAAGGG GAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGGGAA GGGAAGGGAAAGGGAAGGGAAAGGGAAAGGGAAGGGGAAGGGGAAGGGAA GGGGAAGGGGAAGGGAAGGGGAAGGGAAAAGTAAGGGGAAAGGAGAGGGG AAGGGAAAGGGAGGGGAAGGGAAGGGGAAGGGGAAGGAAAAGGAAGGGGA AGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCAAAGGAAAGAAAGGAAAGG GAAAAGGGAAGAGAGGGAGGGAGGGAGGGAGGAAGGAAGGACGGATGGAC GGACAGGACGAAAAAAAGAGAGGGGAGGGGAAGAGAGGGGAGGGGAGGGA AGAGAAGAAAAAGGGAAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0071 a0002c0004t0002g0071	1	242	0.0041	730	c.927 others(747): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTC TCTTCCCTCCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTG TCCGTCCATCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTT TTCCCTTTCCTTTCTTTCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTC CCTTCCCCTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCC CTTCCCCTCTCCTTTCCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTC CCCTTCCCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTT CCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCTTCCC TTCCCCTTCCTTTTCCCTTCCCCTTCCTTGTCCCATTCCCTTCCCTTCCC TTCCCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCC TTCCCTTCCTTTTCCCCTTCCCTTTCCCCTTCCTTCCCTTCCCTTCCCCT TCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTT TCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCTTCCCTTT CCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCTTCCCTTCCCCTTCC TT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(723): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGA AGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGAAAGGGAAG GGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAG GGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAAAAGGAAG GGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAGGGAAGG GGAAGGGAAGGGAAGGAATGGGACAAGGAAGGGGAAGGGAAAAGGAAGGG GAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGGGAA GGGAAGGGAAAGGGAAGGGAAAGGGAAAGGGAAGGGGAAGGGGAAGGGAA GGGGAAGGGGAAGGGAAGGGGAAGGGAAAAGTAAGGGAAAGGAGAGGGGA AGGGAAAGGGAGGGGAAGGGAAGGGGAAGGGGAAGGAAAAGGAAGGGGAA GGGAAGGGGAGGGGGAAGTGAAGGGGTAGCAAAGGGAAAGAAAGGAAAGG GAAAAGGGAAGAGAGGGAGGGAGGGAGGGAGGAAGGAAGGACGGATGGAC GGACAGGACGAAAAAAAGAGAGGGGAGGGGAAGAGAGGGGAGGGGAGGGA AGAGAAGAAAAAGGGAAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0060 a0002c0004t0002g0060	1	242	0.0041	730	c.927 others(747): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTC TCTTCCCTCCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTG TCCGTCCATCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTT TTCCCTTTCCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTT CCCTTCCCCTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTC CCTTCCCCTCTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTC CCCTTCCCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTT CCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCTTCCC TTCCCCTTCCTTTTCCCTTCCCCTTCCTTGTCCCATTCCTTCCCTTCCCT TCCCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCCT TCCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCT TCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTT TCCCTTCCCTTTCCCTTCCCTTCCCTTCCCTTCCCCTTCCCTTCCCTTTC CCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCTTCCCTTCCCCTTCCC TT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(723): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGA AGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAA GGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAA GGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAAAAGGAA GGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAGGGAAG GGGAAGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAAGGAAG GGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGGG AAGGGAAGGGAAAGGGAAGGGAAAGGGAAAGGGAAGGGGAAGGGGAAGGG AAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAAAAGTAAGGGAAAGG AGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGGAAGGGGAAGGAAAAGG AAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCAAAGGGAAAGAA AGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGAGGAAGGAAGGAC GGATGGACAGACAGGACGAAAAAAAGAGAGGGGAGGGGAAGAGAGGGGAG GGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0104 a0001c0003t0003g0104	1	242	0.0041	730	c.927 others(747): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCT CCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCTGTCCA TCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTT CCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCC CTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCC TCTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCC TTTCCCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCC CTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCTTCCCTT CCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTTCCCTTCCCTT CCCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTT CCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCTT CCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTT CCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCTTCCCTTTC CCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCTTCCCTTCCCCTTCCC TT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ASAP2_chr2_9201812_9410678	9400231	C C	CTCCTCCC others(723): Show CTCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCT CCTGCCCCCTTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTG CCCTCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCCTCC CCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCTCCTGCCCCCTCCCCTCCT GCCCCCTTCCCCTCCTGCCCCCTTCCCCTCTGCCTCCTGCCCCCTCCCCT CCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTC CCCTCCTGCCCCCTCCCCTCCCTGCCCCTCCTCCCCTCCTGCCCTCCTGC CCCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCTCCCCTCCTGCCCCTT CCCCTGCCCTCCTGCCCCCTCCCCTCCCTGCCCCCCTCCCCTCCTGCCCT GCCCCCTCCCCCCTCCTGCCCCTCCTCCCCTCCTGCCCTCCTGCCCCCTC CCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCTTCCCCTCCTGCCC TCCTGCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCCCTCCTGTACCCC TCCCCCTCCCCTCCTGCCCCCTGCCCCCCTCCCCTCCTGCCCCCTCCCTT CCTACCCCCCTCCCCTCCTGCCCCCCTCCCCTCCTCCCCTCATGCCCTCC TGCCCCCTCCCCTCCTGCCCCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0174 a0001c0003t0016g0174	1	210	0.0048	730	c.273 others(747): Show c.2734+159_2734+160insTCCTCCCCTCCTGCCCTCCTCCCCTCCT GCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTCCC CTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTCCCCTC CTGCCCTCCTGCCCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTC CCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCT CTGCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGC CCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCCTGCCCCT CCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCCTCCCCTCC TGCCCTCCCCTCCTGCCCCTTCCCCTGCCCTCCTGCCCCCTCCCCTCCCT GCCCCCCTCCCCTCCTGCCCTGCCCCCTCCCCCCTCCTGCCCCTCCTCCC CTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTC CTGCCCCTTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGTACCCCTC CCCCCTCCCCTCCTGTACCCCTCCCCCTCCCCTCCTGCCCCCTGCCCCCC TCCCCTCCTGCCCCCTCCCTTCCTACCCCCCTCCCCTCCTGCCCCCCTCC CCTCCTCCCCTCATGCCCTCCTGCCCCCTCCCCTCCTGCCCCCCCCTCCC CT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	25/27			chr2	TogoVar
ATG7_chr3_11267397_11562665	11487564	A A	AGACGGGG others(723): Show AGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCCCTCTC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCA GGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGT GGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGG GGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTC CCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTC CCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0252 a0001c0002t0013g0252	1	292	0.0034	730	c.207 others(751): Show c.2079+60658_2079+60659insAGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCC CTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCT GGGCAGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGC CGGGTGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTC ACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCT CCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGG CCGGGC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCT others(723): Show TGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCC TGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGG CCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	391	0.0026	730	c.36 others(741): Show c.3604_*3605insGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTG CGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAG CCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835508	G G	GTCCAGGC others(723): Show GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCAC CCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCAC CCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAG CCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCTGTC CAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCC CGACGCGTGCAGCCCCCACCCCGCAGCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	391	0.0026	730	c.36 others(741): Show c.3631_*3632insTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCCGTCCAGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCC AGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCC CCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGC AGAGCCAGCCCTGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCA GCCCCGTCCGGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCA	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3491		chr19	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(723): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG GAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGA GGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGG GGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGG GAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAA GGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGG GGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGG GAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGG AGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGA AGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGCAGTGGGAGGAGGAAG GGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGG GAAGAAGGAGGGGGAAGTGGGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp2 NA20752.hp2 HG01167.hp2 HG01169.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	3	300	0.0100	730	c.-70 others(739): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAG GGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGG GGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGG AAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAA GGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG GAAGGGGGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAA GGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGG AGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGCAG TGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTG GGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
C1QTNF12_chr1_1237453_1251722	1249648	T T	TCCCACTC others(723): Show TCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGAC CGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAG CCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAG GCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTC CCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCG AGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCC CTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGC CGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCC ACTCCGCCCTACAGGCCGGGACACGGGCAGCCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC GGGACAACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCC ACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAG GGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCT GGGAGGCTAGACCGAGGGAGGCTGGGGCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	328	0.0031	730	c.-29 others(741): Show c.-2959_-2958insGAGGCCCCAGCCTCCCTCGGTCTAGCCTCCCAGG GCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTC GGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGG AGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTTGTCCCGGC CTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGG CTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCG GTCCAGCCTCCCAGGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGG AGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCC TGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGC TGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGG TCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAG GCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTG TAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTG CCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTC CAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2927		chr1	TogoVar
CALN1_chr7_71774491_72417338	72209170	T T	TTCCTTCC others(723): Show TTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTTTCCCTCCTTCC CTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTT CCGTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCC TTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTT CCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCC CTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCT CCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCC TTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTT CCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCC CTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCT CCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCC CTCCTTCCCTCTTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCT CCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCC TTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTT CCCTCCTTCCCTCCTTCCCTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	142	0.0070	730	c.244 others(749): Show c.244+69515_244+69516insGGGAAGGAAGGAGGGAAGGAGGGAAG GAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAAGAGGGAAGGA GGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGG GAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAAGAGGGA AGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGG GAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGA AGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAG GAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAGGA GGGAAGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGG GAAGGAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGA AAGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAA GAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGA AGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAG GACGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGA AAGAGGGAAGGAGGGAAAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGA AGGA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12413574	G G	GGATGATG others(723): Show GGATGATGATGATAGTACTGGTGGTGGTGATGATGGTGACCATGACAATG GTGATGATGGTGATAATGGTGATGAGTGTGATGGTGATAGTGGTGATGAT GACATTGGGGATGATGGTGACGATGACAGTGGTGTTAATGATGGTGATAA TGGTGATGATGAGTGTGATGGTGATAATGGTGATGATGATGACATTGGGG ATGATGATGATAGTACTGGTGGTGGTGATGATGATGGTGATGGTGATAAT GGTGATGATGTTGAGTGATAATGGTGATGATGATGGTGATGGTGATAATG GTGATGATGTTGAGTATGATGGTGATAATGGTGATGATGATGACAGTGGT GATGATGATGATGACAATGGTGATGGTGATGATGACAATGGTGATGATGG TGATAATGGTGATGATGAGTATGATGGTGATAATGGTGATGATGATGACA TTGGTGGTGATGATAATAGTACTGGTGGTGATGATGGTGATGATGACAAT GGTGATGATGGTGACGATGACAATGGTGATGATGGTGATAATGGTGATGA TGAGTGTGATGGTGATAATGGTGATGATGAGTATGATGGTGATAATGGTG ATGATGATGATAGTACTGGTGGTGGTGATGATGATGGTGATGATGACAAT GGTGATGATGATGGTGATGAAGGTGATAATGTTGATGAGTATGGTGGTGA TAATGGTGATGATGATGATGACATTGGTGAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0052 a0001c0001t0037g0052	1	214	0.0047	730	c.92+ others(747): Show c.92+63673_92+63674insGATAGTACTGGTGGTGGTGATGATGGTG ACCATGACAATGGTGATGATGGTGATAATGGTGATGAGTGTGATGGTGAT AGTGGTGATGATGACATTGGGGATGATGGTGACGATGACAGTGGTGTTAA TGATGGTGATAATGGTGATGATGAGTGTGATGGTGATAATGGTGATGATG ATGACATTGGGGATGATGATGATAGTACTGGTGGTGGTGATGATGATGGT GATGGTGATAATGGTGATGATGTTGAGTGATAATGGTGATGATGATGGTG ATGGTGATAATGGTGATGATGTTGAGTATGATGGTGATAATGGTGATGAT GATGACAGTGGTGATGATGATGATGACAATGGTGATGGTGATGATGACAA TGGTGATGATGGTGATAATGGTGATGATGAGTATGATGGTGATAATGGTG ATGATGATGACATTGGTGGTGATGATAATAGTACTGGTGGTGATGATGGT GATGATGACAATGGTGATGATGGTGACGATGACAATGGTGATGATGGTGA TAATGGTGATGATGAGTGTGATGGTGATAATGGTGATGATGAGTATGATG GTGATAATGGTGATGATGATGATAGTACTGGTGGTGGTGATGATGATGGT GATGATGACAATGGTGATGATGATGGTGATGAAGGTGATAATGTTGATGA GTATGGTGGTGATAATGGTGATGATGATGATGACATTGGTGATGATGATG AT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCDC88C_chr14_91266323_91422820	91293493	T T	TCCTCACC others(723): Show TCCTCACCCGCCACAGCTCACCTTCCCATCCTCACGTGCCACAGCTCACC TTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAG CTCACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCG CCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCT CACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCCCACCTTCC TGTCCCCTCACCTGCCACGGCCTACCTTCCTGTCCCCTCACCTGCCACGG CCCACCTTCCTGCCCCCTCACCTGCCACGGCCCACCTTCCTGCCCCCTCG CCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCC TGTCCCCTCGCCTGCCACAGCCCACCTTCCTGTCCCCTCGCCTGCCACAG CCCACCTTCCTGTCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCG CCTGCCACAGCCCACCTTCCTGTCCCCTCGCCTGCCACGGCCCACCTTCC TGCCCCCTCGCCTGCCACAGCCCACCTTCCTGTCCCCTCGCCTGCCACGG CCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGTCCCCTCA CCTGCCACGGCCCACCTTCCCGTCCTCACCTGCCACAGCTCACCTTCCCA TCCTCACCTGCCACGGCCTACCTTCCTGTCC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0034 a0003c0003t0002g0034	1	284	0.0035	730	c.411 others(747): Show c.4112+679_4112+680insGGACAGGAAGGTAGGCCGTGGCAGGTGA GGATGGGAAGGTGAGCTGTGGCAGGTGAGGACGGGAAGGTGGGCCGTGGC AGGTGAGGGGACAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGT GGGCCGTGGCAGGCGAGGGGACAGGAAGGTGGGCTGTGGCAGGCGAGGGG GCAGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGGTGGGCTGTGGC AGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGGT GGGCTGTGGCAGGCGAGGGGACAGGAAGGTGGGCTGTGGCAGGCGAGGGG ACAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGC AGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGTGAGGGGGCAGGAAGGT GGGCCGTGGCAGGTGAGGGGACAGGAAGGTAGGCCGTGGCAGGTGAGGGG ACAGGAAGGTGGGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCGG GTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTG TGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGT GAGCTCTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGG GAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGA GG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(723): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCT TCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTC TCTTCCTCCTTCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCC CCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTT CCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCCCCTTCCTTCT TCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCTTCCTCCCTCCCTCCTC CCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCT CCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTT CCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCT CTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0034 a0001c0006t0001g0034	1	354	0.0028	730	c.69 others(741): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCT TCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCC CTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCCCTTCCCCCTTCC CCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTT CCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCTT CCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTC TCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTT CCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTC CTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(723): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTC CCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCC CCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCC TCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCC TCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCC TCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCCCCCTC CTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCCCCTT ACTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCCCCTTCCTCCCTCCTCC TTTCCTTTCTCCCTCCTCCCTTCCTCCCTCCTCCCCTTCCCCCTCCTCCT TTCCTTTCTCCCTCCTCCCTTCCGCCCTCCTCCCCTTCCCCCTCCTCCTT TCCTTTCTCCCTCCTCCCTTCCGCCCTCCTCCCCTTCCCCCTCCTCCTTT CCTTTCTCCCTCCTCCCTTCCACCCTCCTCCCCTTCCCCCCTTCCCCCTT ACTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCT CTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0012 a0001c0007t0006g0012	1	354	0.0028	730	c.69 others(741): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCT CCCTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCC CCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCC CCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTC CCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTT CCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCT TCCCCCTTCCCCCTTACTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCCC CTTCCTCCCTCCTCCTTTCCTTTCTCCCTCCTCCCTTCCTCCCTCCTCCC CTTCCCCCTCCTCCTTTCCTTTCTCCCTCCTCCCTTCCGCCCTCCTCCCC TTCCCCCTCCTCCTTTCCTTTCTCCCTCCTCCCTTCCGCCCTCCTCCCCT TCCCCCTCCTCCTTTCCTTTCTCCCTCCTCCCTTCCACCCTCCTCCCCTT CCCCCCTTCCCCCTTACTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTC CTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GGGGCAGG others(723): Show GGGGCAGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGAGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCA GGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGA AGGGGGCAGGCAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGA AGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGG GAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGG CAGGCAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGGAGGAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGG GAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAG GGAAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAA GGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGA AGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCA GGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGG GGAAGGCAGGAAGGGAGGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0066 a0001c0019t0001g0066	1	344	0.0029	730	c.85- others(747): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCC CCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCT TCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCC TTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCTCCTCCC TTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGC CTGCCCCCTTCCCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCC CTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTTCCCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGCCTGCCC CCTTCCCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCC CCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTCCTCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCTGC CC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL5A1_chr9_134636803_134849843	134729517	T T	TGTGTGTG others(723): Show TGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGCGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCC TGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGG TGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGG CACGGGTGTGCATGAGCCTGTGTGTGTGAGC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02080.hp1 HG03710.hp2 others(4): Show HG00558.hp2 HG02080.hp1 HG03710.hp2 NA18612.hp1 NA18967.hp2 NA18998.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0001t0006 a0001c0003t0001 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 a0001c0004t0011	a0001c0001t0002g0069 a0001c0001t0006g0110 a0001c0003t0001g0153 others(4): Show a0001c0001t0002g0069 a0001c0001t0006g0110 a0001c0003t0001g0153 a0001c0003t0002g0142 a0001c0003t0002g0246 a0001c0003t0008g0078 a0001c0004t0011g0080	7	272	0.0257	730	c.925 others(745): Show c.925-674_925-673insCGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCC TGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGG TGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGG CACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCA TGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTG TGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTG AGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCG TGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTG TGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CPNE4_chr3_131528569_132040014	131978284	A A	ATATATAT others(723): Show ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATTTATATATATATTTTTATATATTTATATAT ATTTTTATATATTTATATATTTATATATATATTTATATATATATTTATAT ATATATTTATATATATATTTATATATATATTTATATATATTTTTATATAT ATATTTATATATATTTATATATATATATTTATATATATTTATATATATTT ATATATATATATTTATATATATTTATATATATTTATATATATATATTTAT ATATATATTTTTATATATTTATATATATTTATATATATTTATATATATAT TTATATATATATTTATATATATTTATATATATATATTTATATATATATAT ATATATATTTATATATATATATTTATATATATATATATATATATTTATAT ATATTTATATATATATATATATTTATATATATTTATATATATATATTTAT ATATATATTTATATATATTTATATATATATATTTATATATATTTATATAT ATATATTTATATATATTTATATATATATTTCTATATATTTATATATATAT ATTTATATATTTATATATATTTATATATATATTTATATATTTATATATAT TTATATATATATTTATATATTTATATATATTTATATATATATTTATATAT TTATATATATTTATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	94	0.0106	730	c.-2+ others(747): Show c.-2+56282_-2+56283insAATATATATAAATATATATAAATATATA TAAATATATAAATATATATATAAATATATATAAATATATAAATATATATA TAAATATATATAAATATATAAATATATATATAAATATATATAAATATATA AATATATATATATAAATATATAGAAATATATATATAAATATATATAAATA TATATATATAAATATATATAAATATATATATATAAATATATATAAATATA TATATAAATATATATATATAAATATATATAAATATATATATATATATAAA TATATATAAATATATATATATATATATATAAATATATATATATAAATATA TATATATATATATATAAATATATATATATAAATATATATAAATATATATA TAAATATATATATAAATATATATAAATATATATAAATATATAAAAATATA TATATAAATATATATATATAAATATATATAAATATATATAAATATATATA TATAAATATATATAAATATATATAAATATATATATATAAATATATATAAA TATATATATAAAAATATATATAAATATATATATAAATATATATATAAATA TATATATAAATATATATATAAATATATATATAAATATATAAATATATAAA AATATATATAAATATATAAAAATATATATATAAATATAAATATATATAAA TATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CRLF3_chr17_30777684_30829692	30792923	G G	GAGGCGGG others(723): Show GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAATCTAATTAATAAATGAGTCTACATCTTCTAAAAAAGAATGCAGGG GAGAGATCAATTTCAAATCATAAGACTTTTTTTTTTTTTGAGACAGAGTC TCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGC AAGCTCCGCCTCCCAAGTTCAGCCATTCTCCTGCTTGAGCCTCCCAAGTA GTTGGGCCTACAGGTGCCCCATGCCTGGCTAATTTTTGGTATTTGTAGTA GAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGCACTC GTGATCCGCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGC CACCATGCCCGGCCCTCAAATCATCAGACTTTTAAGAAAATGTCTCTCCA GGTATTTCTTGAGAGTTTGGAAAATCAGCATCAGCTGGGCACAGTGGCTC ACGCCTATAATCCCAGGACTTTGGGAGGTCA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0309 a0001c0002t0009g0309	1	324	0.0031	730	c.827 others(745): Show c.827-352_827-351insTGACCTCCCAAAGTCCTGGGATTATAGGCG TGAGCCACTGTGCCCAGCTGATGCTGATTTTCCAAACTCTCAAGAAATAC CTGGAGAGACATTTTCTTAAAAGTCTGATGATTTGAGGGCCGGGCATGGT GGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGCGGATCA CGAGTGCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCTGTCT CTACTACAAATACCAAAAATTAGCCAGGCATGGGGCACCTGTAGGCCCAA CTACTTGGGAGGCTCAAGCAGGAGAATGGCTGAACTTGGGAGGCGGAGCT TGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTG AGACTCTGTCTCAAAAAAAAAAAAAGTCTTATGATTTGAAATTGATCTCT CCCCTGCATTCTTTTTTAGAAGATGTAGACTCATTTATTAATTAGATTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG AGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCG CCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCT	CRLF3	ENSG00000176390.12	transcript	ENST00000324238.7	protein_coding	5/7			chr17	TogoVar
CRLF3_chr17_30777684_30829692	30792923	G G	GAGGCGGG others(723): Show GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAATCTAATTAATAAATGAGTCTACATCTTCTAAAAAAGAATGCAGGGGA GAGATCAATTTCAAATCATAAGACTTTTTTTTTTTTTGAGACAGAGTCTC ACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAA GCTCCGCCTCCCAAGTTCAGCCATTCTCCTGCTTGAGCCTCCCAAGTAGT TGGGCCTACAGGTGCCCCATGCCTGGCTAATTTTTGGTATTTGTAGTAGA GACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGCACTCGT GATCCGCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCA CCATGCCCGGCCCTCAAATCATCAGACTTTTAAGAAAATGTCTCTCTCCA GGTATTTCTTGAGAGTTTGGAAAATCAGCATCAGCTGGGCACAGTGGCTC ACGCCTATAATCCCAGGACTTTGGGAGGTCA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0067 a0001c0002t0016g0067	1	324	0.0031	730	c.827 others(745): Show c.827-352_827-351insTGACCTCCCAAAGTCCTGGGATTATAGGCG TGAGCCACTGTGCCCAGCTGATGCTGATTTTCCAAACTCTCAAGAAATAC CTGGAGAGAGACATTTTCTTAAAAGTCTGATGATTTGAGGGCCGGGCATG GTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGCGGAT CACGAGTGCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCTGT CTCTACTACAAATACCAAAAATTAGCCAGGCATGGGGCACCTGTAGGCCC AACTACTTGGGAGGCTCAAGCAGGAGAATGGCTGAACTTGGGAGGCGGAG CTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAG TGAGACTCTGTCTCAAAAAAAAAAAAAGTCTTATGATTTGAAATTGATCT CTCCCCTGCATTCTTTTTTAGAAGATGTAGACTCATTTATTAATTAGATT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG AGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCG CCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCT	CRLF3	ENSG00000176390.12	transcript	ENST00000324238.7	protein_coding	5/7			chr17	TogoVar
DCLK2_chr4_150073445_150262438	150251277	C C	CCACACCC others(723): Show CCACACCCCCCACACCACACATCCCCCACACCCCCCACATCCCCCACACC CCCACACATCCCCACACCACACATCCCCCACACCCCCCAACACCCCCCAC ACCCCCACACATCCCCCACACCACACATCCCCCACACCCCCCACACCCCC CACATCCCCCACACATCCCCCACACCCCCCAACACCCCCACACCCCCACA CACCCCCACACCACACATCCCCCACACCCCCCACACCCCCCACATCCCCC ACACATCCCCCACACCCCCCACATCCCCCCACACCCCCCACACCCCCCAC ACCACACATCCCCCACACCCCCAAATCCCCCACACCCCCCACACCCCCAC ACACCCCCCACATCCCCCACACCTCCCACACCCCCACACACCCCCCACAC CACACATCCCTCACACCCCCCAACACCCCCACACACCCCCCACACCACAC ATCCCCCACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCC CACACCCCAAATCCCCCACACCCCCCACATCCCCCACACCCCCCAAATCC CCCACACCTCCCCCATCCCCCACACCCCCCCACACCCCCCACATCCCCAC ACACCACAAATCCTCCACACCCCCCAACACCCCCACACACCCCCCACACC ACACATCCCTCACACCCCCAACACCCCCACACCTCCCACACCTCCCACAT CCCCCACACCCCCCAAATCCCCCATACCCCT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0067 a0001c0001t0011g0067	1	116	0.0086	730	c.207 others(749): Show c.2073+1599_2073+1600insCCCCACACCACACATCCCCCACACCC CCCACATCCCCCACACCCCCACACATCCCCACACCACACATCCCCCACAC CCCCCAACACCCCCCACACCCCCACACATCCCCCACACCACACATCCCCC ACACCCCCCACACCCCCCACATCCCCCACACATCCCCCACACCCCCCAAC ACCCCCACACCCCCACACACCCCCACACCACACATCCCCCACACCCCCCA CACCCCCCACATCCCCCACACATCCCCCACACCCCCCACATCCCCCCACA CCCCCCACACCCCCCACACCACACATCCCCCACACCCCCAAATCCCCCAC ACCCCCCACACCCCCACACACCCCCCACATCCCCCACACCTCCCACACCC CCACACACCCCCCACACCACACATCCCTCACACCCCCCAACACCCCCACA CACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCACACACCCC CCACACCACACATCCCCCACACCCCAAATCCCCCACACCCCCCACATCCC CCACACCCCCCAAATCCCCCACACCTCCCCCATCCCCCACACCCCCCCAC ACCCCCCACATCCCCACACACCACAAATCCTCCACACCCCCCAACACCCC CACACACCCCCCACACCACACATCCCTCACACCCCCAACACCCCCACACC TCCCACACCTCCCACATCCCCCACACCCCCCAAATCCCCCATACCCCTCA CACC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DECR2_chr16_396885_417482	397703	G G	GGGGGGTG others(723): Show GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGT GGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTG AGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGTGGGGGGGTGAGGGAGTCGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	367	0.0027	730	c.-42 others(741): Show c.-4261_-4260insGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTC GGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGG GGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGGT	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4181		chr16	TogoVar
DGKQ_chr4_953887_978569	968179	C C	CGCCTCTC others(723): Show CGCCTCTCCTGCCCCGCCCCCCCAACTCCTCCACCTCCCAGCACCCACCC AACCCCGCACCTCTCCTGCCCCACCCCCACCCCCTCCACCTCCCAGCACC CACCCAACCCCGCACCTCTCCTGCCCCACCCCCACCCCCTCCACCTCCCA GCGCCCCCCTGGACCCCGTGCCTCTCCTGCCCCGCCCCCCCAACTCCTCC ACCTCCCAGCACCCACCCAACCCCGCACCTCTCCTGCCCCACCCCCACCC CCTCCACCTCCCAGCGCCCCCCTGGACCCCGCGCCTCTCCTGCCCCGCCC CCCCAACTCCTCCACCTCCCAGCACCCACCCAACCCCGCACCTCTCCTGC CCCACCCCCACCCCCTCCACCTCCCAGCACCCACCCAACCCCGCACCTCT CCTGCCCCACCCCCACCCCCTCCACCTCCCAGCGCCCCCCTGGACCCCGT GCCTCTCCTGCCCCGCCCCCCCAACTCCTCCACCTCCCAGCACCCACCCA ACCCCGCACCTCTCCTGCCCCACCCCCACCCCCTCCACCTCCCAGCGCCC CCCTGGACCCCGCGCCTCTCCTGCCCCGCCCCCCCAACTCCTCCACCTCC CAGCACCCACCCAACCCCGCACCTCTCCTGCCCCACCCCCACCCCCTCCA CCTCCCAGCACCCACCCAACCCCGCACCTCTCCTGCCCCACCCCCACCCC CTCCACCTCCCAGCGCCCCCCTGGACCCCGT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0134 a0002c0003t0003g0134	1	438	0.0023	730	c.663 others(745): Show c.663+102_663+103insACGGGGTCCAGGGGGGCGCTGGGAGGTGGA GGGGGTGGGGGTGGGGCAGGAGAGGTGCGGGGTTGGGTGGGTGCTGGGAG GTGGAGGGGGTGGGGGTGGGGCAGGAGAGGTGCGGGGTTGGGTGGGTGCT GGGAGGTGGAGGAGTTGGGGGGGCGGGGCAGGAGAGGCGCGGGGTCCAGG GGGGCGCTGGGAGGTGGAGGGGGTGGGGGTGGGGCAGGAGAGGTGCGGGG TTGGGTGGGTGCTGGGAGGTGGAGGAGTTGGGGGGGCGGGGCAGGAGAGG CACGGGGTCCAGGGGGGCGCTGGGAGGTGGAGGGGGTGGGGGTGGGGCAG GAGAGGTGCGGGGTTGGGTGGGTGCTGGGAGGTGGAGGGGGTGGGGGTGG GGCAGGAGAGGTGCGGGGTTGGGTGGGTGCTGGGAGGTGGAGGAGTTGGG GGGGCGGGGCAGGAGAGGCGCGGGGTCCAGGGGGGCGCTGGGAGGTGGAG GGGGTGGGGGTGGGGCAGGAGAGGTGCGGGGTTGGGTGGGTGCTGGGAGG TGGAGGAGTTGGGGGGGCGGGGCAGGAGAGGCACGGGGTCCAGGGGGGCG CTGGGAGGTGGAGGGGGTGGGGGTGGGGCAGGAGAGGTGCGGGGTTGGGT GGGTGCTGGGAGGTGGAGGGGGTGGGGGTGGGGCAGGAGAGGTGCGGGGT TGGGTGGGTGCTGGGAGGTGGAGGAGTTGGGGGGGCGGGGCAGGAGAGGC	DGKQ	ENSG00000145214.14	transcript	ENST00000273814.8	protein_coding	5/22			chr4	TogoVar
DLGAP2_chr8_732628_1713476	1450088	G G	GCTGTGAG others(723): Show GCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGTGACTGTAGC GGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGTGACTGT AGCGGAGCTGTGAGGGTGAAGATGAGGTGGGCGGCCTCGGTGGCTGTGAC TGTAGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGA GGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGC TGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGA GCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCTGAGCT GTGAGGGTGAAGATGAGGTGGGCGGCCTCGGTGGCTGTGGCTGAGGCTGA GCTGTGAGGGTGAAGATGAGGTGGGCGGCCCCGGTGGCTCGGGCAGAGCT GTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTG AGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGG GTGAAGACGAGGTGGGCGGCCTCGGTGACTGAGGCGGAGCTGTGAGGGTG AAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAG ACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACG AGGTGGGCGGCCTCGGTGGCTGAGGCTGAGC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0037 a0003c0005t0004g0037	1	40	0.0250	730	c.107 others(749): Show c.107-51278_107-51277insCTGTGAGGGTGAAGACGAGGTGGGCG GCCTCGGTGGCTGTGACTGTAGCGGAGCTGTGAGGGTGAAGACGAGGTGG GCGGCCTCGGTGGCTGTGACTGTAGCGGAGCTGTGAGGGTGAAGATGAGG TGGGCGGCCTCGGTGGCTGTGACTGTAGCGGAGCTGTGAGGGTGAAGACG AGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGG TGGGCGGCCTCGGTGGCTGAGGCTGAGCTGTGAGGGTGAAGACGAGGTGG GCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCG GCCTCGGTGGCTGAGGCTGAGCTGTGAGGGTGAAGATGAGGTGGGCGGCC TCGGTGGCTGTGGCTGAGGCTGAGCTGTGAGGGTGAAGATGAGGTGGGCG GCCCCGGTGGCTCGGGCAGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCC TCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCG GTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTG ACTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCT GAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAG GCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCT GAGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14			chr8	TogoVar
DNAH17_chr17_78418697_78582396	78438426	A A	AGGAGGAG others(723): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAG GAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAG GAGGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGA GGGGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGGGGAGGAG GAGGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGAGGAGGGG GAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAG GGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGGGAGGAGGGAGGAGGG AGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGG AGGGAGAGGAGGAGGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGG AGGAGGAGGAGGGAGGAAGGAGGAGGGAGGAAGGAGGAGGGAGGAGGAGG AGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGG AGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAG GAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGA GGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGG GAGGAGGAGGAGGAGGAGGAGGAGGGAGGAG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0080 a0080	a0080c0076 a0080c0076	a0080c0076t0002 a0080c0076t0002	a0080c0076t0002g0197 a0080c0076t0002g0197	1	252	0.0040	730	c.118 others(749): Show c.11806-559_11806-558insCTCCTCCCTCCTCCTCCTCCTCCTCC TCCTCCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTC CTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCT CCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCC CTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTC CTCCTCCTCCTCCTCCCTCCTCCTTCCTCCCTCCTCCTTCCTCCCTCCTC CTCCTCCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCCTCCTCCTC TCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTC CTCCTCCCTCCTCCCTCCTCCCCCTCCTCCTCCTCCTCCCTCCTCCCTCC TCCCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCC TCCTCCCCCTCCTCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCT CCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCT CCCCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCT CCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCC TCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTC CTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DNAJC4_chr11_64225548_64239281	64237115	G G	GGGAGAGG others(723): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGAGAGGGAGAGACAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0001	1	338	0.0030	730	c.29 others(741): Show c.2931_*2932insGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGACAGAC	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2835		chr11	TogoVar
DPEP1_chr16_89608642_89643433	89619161	C C	CCGCTCCC others(723): Show CCGCTCCCCTCCCTGCAGCCCCCTCTGCCCCCCCGCTCCCCTCCCTGCAG CCCCCTGCCCCCCTGCTCCCTCCCTGCAGCCCCCCTGCCCCCCCTGCTCC CTCCCTGCAGCCCCCTGCCCCCCCTGCCTCCCCTCCCTGCAGCCCCCTGA CCCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCA GCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGC AGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCT CCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGC TCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTG CAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCCCGCT CCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCT GCCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCCCGCTCCCCTCCC TGCAGCCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCC CGCTCCCCTCCCTGCAGCCCCCTGCCCCCCT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0131 a0002c0002t0001g0131	1	250	0.0040	730	c.-10 others(749): Show c.-107+5442_-107+5443insCGCTCCCCTCCCTGCAGCCCCCTCTG CCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCTCCCTGC AGCCCCCCTGCCCCCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCCTGC CTCCCCTCCCTGCAGCCCCCTGACCCCCTGCTCCCTCCCTGCAGCCCCCT GCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCC TGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGC TCCCCTCCCTGCAGCCCCCTGCCCCCCCCTGCTCCCCTCCCTGCAGCTCC ATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCC TGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCG CTCCCCTCCCTGCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCC TGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCC CTGCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCC TGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCC CCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCTGCTCCC CTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCC CCCT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10			chr16	TogoVar

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