JoGo: Joint Open Genome and Omics Platform

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
SLC6A18_chr5_1220381_1251189	1238245	G G	GTCAGGTT others(703): Show GTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAG TGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCC TCAGGAAAGAGGTCAGGTTTGGAGTGAGCTTGGGGCCTCAGGAAAGAGGT CAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGT GAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGAC TCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGACAT CAGGTTTGGAGTGAGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGT GGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCC TCAGGAAAGAGGTCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGACAT CAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGT GAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCT CAGGAAAGAGGTCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTC AGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTG AGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACT CAGGAAAGACA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0149 a0001c0002t0001g0149	1	456	0.0022	710	c.732 others(725): Show c.732+199_732+200insGGCCTGGGGCCTCAGGAAAGAGGTCAGGTT TGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTG GGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCTTGGGGCCTCAGGAAA GAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTT GGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGG AGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAA GACATCAGGTTTGGAGTGAGCCTGGAGGACTCAGGAAAGACATCAGGTTT GGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTG GGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAA GACATCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTT GGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGG GGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAG AGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTG GAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGA GGACTCAGGAAAGACATCAGGTTTGGAGTG	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
TCF25_chr16_89868592_89916379	89884843	C C	CCTCTCCC others(703): Show CCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCT CTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACG CCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCT CTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACG CCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCC CTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGA CGCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTC CCTCTGCCTGACGCCCCTCTCCGTCTGCCTGACGCCCTCTCCGTCTGCCT GACGCCCTCTCCGTCTGCCTGACGCCCTCTCCGTCTGCCTGACGCCCTCC CTCTGCCTGACGCCCTCTCCCTCTGCCTGACCCCCTCTCCCTCTGCCTGA CCCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCCTCT CCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCC TGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTC TCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGC CTGACGCCCCT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0271 a0001c0005t0004g0271	1	300	0.0033	710	c.429 others(725): Show c.429+190_429+191insTCCCTCTGCCTGACGCCCCTCTCCCTCTGC CTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCT CTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGC CTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCT CTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCT GCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCC CTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTC TGCCTGACGCCCTCTCCCTCTGCCTGACGCCCCTCTCCGTCTGCCTGACG CCCTCTCCGTCTGCCTGACGCCCTCTCCGTCTGCCTGACGCCCTCTCCGT CTGCCTGACGCCCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACCCC CTCTCCCTCTGCCTGACCCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTC TGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGAC GCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCC TCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGAC GCCCCTCTCCCTCTGCCTGACGCCCCTCTC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF3_chr19_1604292_1657615	1628356	C C	CGGGGTGA others(703): Show CGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCATGGGGGTGAGGCGGGAA GGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCA CAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCGCAGGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGAAAGGGGACAGCAGAG CTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCG GGAAGGGGACAGCAGAGCTCACGGGGGGTGAGGCGGGAAGGGGACAGCAG AGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGG CGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGC AGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCATGGGGGTGA GGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGC AGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTG AGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACA GCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGG TGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGAC AGCAGAGCTCA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0087 a0002c0001t0087	a0002c0001t0087g0291 a0002c0001t0087g0291	1	352	0.0028	710	c.299 others(725): Show c.299-931_299-930insTGAGCTCTGCTGTCCCCTTCCCACCTCACC CCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTG TCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCCCAC CCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTG TCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCATGAGCTCTGC TGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTG CTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCC TCACCCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTC TGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTTCCG CCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGCGAG CTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTT CCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCATG AGCTCTGCTGTCCCCTTCCCACCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(703): Show CTATTATATATATAATATACCTATTATATATAATATACCTATTATATATA AAATATACCTATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATATAATATACCTATTATATGCATTATATAT AATATACCTATTATATGCATTATATAATATATTATATATAATATGCATAT TATATGTATTATATATTATATATTATATATATAATATACATATTATATGT ATTATATATTATATATTATATATAATATACATATTATATGTATTATATAT TATATATAATATACATATATATTATATATTATATACATATTATATATTAT ATACATATTATATATTATATACATATTATATATTATATATTATATACATA TTATACATTATATATATCTAAAATATATAATACACATTATATATTATATA ATACACATTATATATTATATATAATACACATTATATATTATATATAATAC ACATTATATATTATATATAATACACATTATATATTATATAATACACATTA TATATTATATATAATACACATTATATATTATATATAATACACATTATATA TTATATATAATATACATTATATATTATATAATACACATATATATATATAT AATACACATTATATATATAATACACATTATATATTATATATAATACATAA TACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0174 a0001c0002t0002g0174	1	360	0.0028	710	c.62 others(721): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATATAATGTGTATTATATATATATATATGTGTATTAT ATAATATATAATGTATATTATATATAATATATAATGTGTATTATATATAA TATATAATGTGTATTATATATAATATATAATGTGTATTATATAATATATA ATGTGTATTATATATAATATATAATGTGTATTATATATAATATATAATGT GTATTATATATAATATATAATGTGTATTATATAATATATAATGTGTATTA TATATTTTAGATATATATAATGTATAATATGTATATAATATATAATATAT AATATGTATATAATATATAATATGTATATAATATATAATATGTATATAAT ATATAATATATATGTATATTATATATAATATATAATACATATAATATGTA TATTATATATAATATATAATATATAATACATATAATATGTATATTATATA TATAATATATAATATATAATACATATAATATGCATATTATATATAATATA TTATATAATGCATATAATAGGTATATTATATATAATGCATATAATAGGTA TATTATATATAATGCATATAATAGGTATATTATATATAATGCATATAATA GGTATATTATATATAATAGGTATATTTTATATATAATAGGTATATTATAT ATAATAGGTATATTATATATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(703): Show CTATTATATATATAATATACCTATTATATATAATATACCTATTATATATA AAATATACCTATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATATAATATACCTATTATATGCATTATATAT AATATACCTATTATATGCATTATATAATATATTATATATAATATGCATAT TATATGTATTATATATTATATATTATATATATAATATACATATTATATGT ATTATATATTATATATTATATATAATATACATATTATATGTATTATATAT TATATATAATATACATATATATTATATATTATATACATATTATATATTAT ATACATATTATATATTATATACATATTATATATTATATATTATATACATA TTATACATTATATATATCTAAAATATATAATACACATTATATATTATATA ATACACATTATATATTATATATAATACACATTATATATTATATATAATAC ACATTATATATTATATATAATACACATTATATATTATATAATACACATTA TATATTATATATAATACACATTATATATTATATATAATACACATTATATA TTATATATAATATACATTATATATTATATAATACACATTATATATTATAT ATAATACACATTATATATAATACACATTATATATTATATATAATACATAA TACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00280.hp2 HG00323.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0030	2	360	0.0056	710	c.62 others(721): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATAATGTGTATTATATATAATATATAATGTGTATTAT ATAATATATAATGTATATTATATATAATATATAATGTGTATTATATATAA TATATAATGTGTATTATATATAATATATAATGTGTATTATATAATATATA ATGTGTATTATATATAATATATAATGTGTATTATATATAATATATAATGT GTATTATATATAATATATAATGTGTATTATATAATATATAATGTGTATTA TATATTTTAGATATATATAATGTATAATATGTATATAATATATAATATAT AATATGTATATAATATATAATATGTATATAATATATAATATGTATATAAT ATATAATATATATGTATATTATATATAATATATAATACATATAATATGTA TATTATATATAATATATAATATATAATACATATAATATGTATATTATATA TATAATATATAATATATAATACATATAATATGCATATTATATATAATATA TTATATAATGCATATAATAGGTATATTATATATAATGCATATAATAGGTA TATTATATATAATGCATATAATAGGTATATTATATATAATGCATATAATA GGTATATTATATATAATAGGTATATTTTATATATAATAGGTATATTATAT ATAATAGGTATATTATATATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(703): Show CTATTATATATATAATATACCTATTATATATAATATACCTATTATATATA AAATATACCTATTATATATAATATACCTATTATATGCATTATATATAATC TACCTATTATATGCATTATATATAATATACCTATTATATGCATTATATAT AATATACCTATTATATGCATTATATAATATATTATATATAATATGCATAT TATATGTATTATATATTATATATTATATATATAATATACATATTATATGT ATTATATATTATATATTATATATAATATACATATTATATGTATTATATAT TATATATAATATACATATATATTATATATTATATACATATTATATATTAT ATACATATTATATATTATATACATATTATATATTATATATTATATACATA TTATACATTATATATATCTAAAATATATAATACACATTATATATTATATA ATACACATTATATATTATATATAATACACATTATATATTATATATAATAC ACATTATATATTATATATAATACACATTATATATTATATAATACACATTA TATATTATATATAATACACATTATATATTATATATAATACACATTATATA TTATATATAATATACATTATATATTATATAATACACATTATATATTATAT ATAATACACATTATATATAATACACATTATATATTATATATAATACATAA TACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0287 a0001c0002t0002g0287	1	360	0.0028	710	c.62 others(721): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATAATGTGTATTATATATAATATATAATGTGTATTAT ATAATATATAATGTATATTATATATAATATATAATGTGTATTATATATAA TATATAATGTGTATTATATATAATATATAATGTGTATTATATAATATATA ATGTGTATTATATATAATATATAATGTGTATTATATATAATATATAATGT GTATTATATATAATATATAATGTGTATTATATAATATATAATGTGTATTA TATATTTTAGATATATATAATGTATAATATGTATATAATATATAATATAT AATATGTATATAATATATAATATGTATATAATATATAATATGTATATAAT ATATAATATATATGTATATTATATATAATATATAATACATATAATATGTA TATTATATATAATATATAATATATAATACATATAATATGTATATTATATA TATAATATATAATATATAATACATATAATATGCATATTATATATAATATA TTATATAATGCATATAATAGGTATATTATATATAATGCATATAATAGGTA TATTATATATAATGCATATAATAGGTAGATTATATATAATGCATATAATA GGTATATTATATATAATAGGTATATTTTATATATAATAGGTATATTATAT ATAATAGGTATATTATATATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
TMEM120B_chr12_121707752_121787068	121747289	G G	GCTGGGGT others(703): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAA AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0051 a0001c0001t0006g0051	1	314	0.0032	710	c.189 others(727): Show c.189-1024_189-1023insTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAAAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747289	G G	GCTGGGGT others(703): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAA AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0158 a0001c0001t0049g0158	1	314	0.0032	710	c.189 others(727): Show c.189-1024_189-1023insTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAAAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747951	T T	TGGGAGGC others(703): Show TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGATAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTG GGGTAGAAGGC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0039 a0002c0002t0039	a0002c0002t0039g0302 a0002c0002t0039g0302	1	314	0.0032	710	c.189 others(725): Show c.189-368_189-367insTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGG AGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGATAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGCGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128473334	T T	TCCAGCCT others(703): Show TCCAGCCTCCATCTTTATCTTCACTCCAGTCTCTATCTTCCATCTTCAGT CCAGCCTCTATCTTCATCTTCACTCCAGCTTCCATCTTTATCTTCACTCC AGTCTCTATCTTAATCTTCAGTCCAACCTCTCTCTTCATCTTCACTCCAG CCTCTCTCTTCATCCTCACTGCAGCCTCCATCTTCATCCTTACTTCAGCC TCTATCTTCATCCTCACTCCAGCCCCTATCTTCATCTTCACTCCACCCCA TCTTCATCCTCTCTCCAGCCTCCATCTTCATCCTCACTCCAGCCTCTATC TTCACCTTCACTCCAGCCTCTATCTTCATCCTTACTCCAGCCTCTATCTT CATCCTCACTCCACCCCATCTTCATCTTCACTCCACCCCATCTTCATCTT CACTCCACCCCATCTTCATCCTCTCTCCAGCCTCCATCTTCATCCTCACT CCAGCCTCCCTCTTCATCTTCACTCCAGCCTCCATCTTCATCTTCACTCC AGCCTCTCTCTTCATCCTCACTCCAGCCTCCATCTTCATCCTCACTCCAG CCTCCATCTTCATCTTCACTCCAGCCTCCGTCTTCATCTTCACTCCAGCC TCTCTCTTCATCCTCACTCCAGCCTCCATCTTCATCCTCACTCCAGCCTC CGTCTTCATCTTCACTCCAGCCTCTATCTTCATCCTCACGCCAGCCTCCT TCATCTGCATG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp2 HG00609.hp1 others(31): Show HG00140.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG01081.hp2 HG01099.hp1 HG01261.hp2 HG01978.hp2 HG02027.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02523.hp1 HG02523.hp2 HG02683.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG03017.hp1 HG03017.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 NA18941.hp2 NA18971.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0005 a0007 a0008 a0009 a0012 a0015 a0021 a0027 a0031	a0001c0001 a0001c0019 a0002c0004 others(17): Show a0001c0001 a0001c0019 a0002c0004 a0002c0006 a0002c0018 a0003c0009 a0003c0085 a0005c0005 a0005c0012 a0005c0050 a0007c0011 a0007c0082 a0008c0002 a0009c0003 a0009c0049 a0012c0023 a0015c0083 a0021c0043 a0027c0066 a0031c0079	a0001c0001t0001 a0001c0001t0006 a0001c0019t0001 others(20): Show a0001c0001t0001 a0001c0001t0006 a0001c0019t0001 a0002c0004t0003 a0002c0006t0004 a0002c0018t0002 a0003c0009t0001 a0003c0085t0004 a0005c0005t0002 a0005c0012t0004 a0005c0050t0001 a0007c0011t0004 a0007c0082t0002 a0008c0002t0001 a0008c0002t0015 a0009c0003t0001 a0009c0003t0006 a0009c0049t0001 a0012c0023t0001 a0015c0083t0006 a0021c0043t0006 a0027c0066t0004 a0031c0079t0001	a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0117 others(31): Show a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0134 a0001c0001t0006g0031 a0001c0001t0006g0130 a0001c0019t0001g0029 a0002c0004t0003g0058 a0002c0004t0003g0059 a0002c0006t0004g0100 a0002c0018t0002g0101 a0003c0009t0001g0153 a0003c0085t0004g0125 a0005c0005t0002g0037 a0005c0012t0004g0035 a0005c0012t0004g0108 a0005c0012t0004g0124 a0005c0050t0001g0034 a0007c0011t0004g0013 a0007c0082t0002g0107 a0008c0002t0001g0026 a0008c0002t0001g0028 a0008c0002t0001g0049 a0008c0002t0001g0104 a0008c0002t0015g0033 a0009c0003t0001g0128 a0009c0003t0006g0024 a0009c0049t0001g0053 a0012c0023t0001g0170 a0015c0083t0006g0159 a0021c0043t0006g0099 a0027c0066t0004g0160 a0031c0079t0001g0030	34	170	0.2000	710	c.974 others(729): Show c.974+57723_974+57724insATCTTTATCTTCACTCCAGTCTCTAT CTTCCATCTTCAGTCCAGCCTCTATCTTCATCTTCACTCCAGCTTCCATC TTTATCTTCACTCCAGTCTCTATCTTAATCTTCAGTCCAACCTCTCTCTT CATCTTCACTCCAGCCTCTCTCTTCATCCTCACTGCAGCCTCCATCTTCA TCCTTACTTCAGCCTCTATCTTCATCCTCACTCCAGCCCCTATCTTCATC TTCACTCCACCCCATCTTCATCCTCTCTCCAGCCTCCATCTTCATCCTCA CTCCAGCCTCTATCTTCACCTTCACTCCAGCCTCTATCTTCATCCTTACT CCAGCCTCTATCTTCATCCTCACTCCACCCCATCTTCATCTTCACTCCAC CCCATCTTCATCTTCACTCCACCCCATCTTCATCCTCTCTCCAGCCTCCA TCTTCATCCTCACTCCAGCCTCCCTCTTCATCTTCACTCCAGCCTCCATC TTCATCTTCACTCCAGCCTCTCTCTTCATCCTCACTCCAGCCTCCATCTT CATCCTCACTCCAGCCTCCATCTTCATCTTCACTCCAGCCTCCGTCTTCA TCTTCACTCCAGCCTCTCTCTTCATCCTCACTCCAGCCTCCATCTTCATC CTCACTCCAGCCTCCGTCTTCATCTTCACTCCAGCCTCTATCTTCATCCT CACGCCAGCCTCCTTCATCTGCATGCCAGCCTCC	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128473334	T T	TCCAGCCT others(703): Show TCCAGCCTCCATCTTTATCTTCACTCCAGTCTCTATCTTCCATCTTCAGT CCAGCCTCTATCTTCATCTTCACTCCAGCTTCCATCTTTATCTTCACTCC AGTCTCTATCTTAATCTTCAGTCCAACCTCTCTCTTCATCTTCACTCCAG CCTCTCTCTTCATCCTCACTGCAGCCTCCATTTTCATCCTTACTTCAGCC TCTATCTTCATCCTCACTCCAGCCCCTATCTTCATCTTCACTCCACCCCA TCTTCATCCTCTCTCCAGCCTCCATCTTCATCCTCACTCCAGCCTCTATC TTCACCTTCACTCCAGCCTCTATCTTCATCCTTACTCCAGCCTCTATCTT CATCCTCACTCCACCCCATCTTCATCTTCACTCCACCCCATCTTCATCTT CACTCCACCCCATCTTCATCCTCTCTCCAGCCTCCATCTTCATCCTCACT CCAGCCTCCCTCTTCATCTTCACTCCAGCCTCCATCTTCATCTTCACTCC AGCCTCTCTCTTCATCCTCACTCCAGCCTCCATCTTCATCCTCACTCCAG CCTCCATCTTCATCTTCACTCCAGCCTCCGTCTTCATCTTCACTCCAGCC TCTCTCTTCATCCTCACTCCAGCCTCCATCTTCATCCTCACTCCAGCCTC CGTCTTCATCTTCACTCCAGCCTCTATCTTCATCCTCACGCCAGCCTCCT TCATCTGCATG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02970.hp2 HG03098.hp2 others(1): Show HG02723.hp1 HG02970.hp2 HG03098.hp2 HG03453.hp1	a0003 a0004 a0006 a0003 a0004 a0006	a0003c0010 a0003c0072 a0004c0059 others(1): Show a0003c0010 a0003c0072 a0004c0059 a0006c0022	a0003c0010t0003 a0003c0072t0007 a0004c0059t0002 others(1): Show a0003c0010t0003 a0003c0072t0007 a0004c0059t0002 a0006c0022t0007	a0003c0010t0003g0081 a0003c0072t0007g0118 a0004c0059t0002g0062 others(1): Show a0003c0010t0003g0081 a0003c0072t0007g0118 a0004c0059t0002g0062 a0006c0022t0007g0163	4	170	0.0235	710	c.974 others(729): Show c.974+57723_974+57724insATCTTTATCTTCACTCCAGTCTCTAT CTTCCATCTTCAGTCCAGCCTCTATCTTCATCTTCACTCCAGCTTCCATC TTTATCTTCACTCCAGTCTCTATCTTAATCTTCAGTCCAACCTCTCTCTT CATCTTCACTCCAGCCTCTCTCTTCATCCTCACTGCAGCCTCCATTTTCA TCCTTACTTCAGCCTCTATCTTCATCCTCACTCCAGCCCCTATCTTCATC TTCACTCCACCCCATCTTCATCCTCTCTCCAGCCTCCATCTTCATCCTCA CTCCAGCCTCTATCTTCACCTTCACTCCAGCCTCTATCTTCATCCTTACT CCAGCCTCTATCTTCATCCTCACTCCACCCCATCTTCATCTTCACTCCAC CCCATCTTCATCTTCACTCCACCCCATCTTCATCCTCTCTCCAGCCTCCA TCTTCATCCTCACTCCAGCCTCCCTCTTCATCTTCACTCCAGCCTCCATC TTCATCTTCACTCCAGCCTCTCTCTTCATCCTCACTCCAGCCTCCATCTT CATCCTCACTCCAGCCTCCATCTTCATCTTCACTCCAGCCTCCGTCTTCA TCTTCACTCCAGCCTCTCTCTTCATCCTCACTCCAGCCTCCATCTTCATC CTCACTCCAGCCTCCGTCTTCATCTTCACTCCAGCCTCTATCTTCATCCT CACGCCAGCCTCCTTCATCTGCATGCCAGCCTCC	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TOP1MT_chr8_143304324_143339880	143321834	A A	ACACGCCA others(703): Show ACACGCCACACACAGGCACGCCACACACACAGGCACGCCACCCACGCATG CCACACACGCACGCCACACGCATGCCACACACAGCCACGCCACACACACA CGCCACACACACACAGGCACGCCACACACGCACGCCACACACACGCATGC CACACACACGCCACACACACAGGCACGCCACACACACAGGCACGCCACAC ACACACGCCACACACACGCACGCCACACACGCACGCCACACACGCACGCC ACACACATGCATGCCACATACGCCCGCCACACACGCACGCCACACAGGCA CGCCACACAAGCACGCCACACACACACGCACGCCACAAACGCACGCCACA CACGCACGCCACACGCACGCCAGCCACACACGCACGCACACACGCACGCC AGCCACACACGCACGCCACACGCACGCCACACACGAACGCCACACAAACG CCACACACACGAATGCCACGCCACACACGCACGCCACACACGCACGCCAC ACACGCACGCCACACACAGGCATGCCACACACATGCACGCCACACACAGG CACGCCACACACGCACGCCACACACAGGCATGCCAAACACGCACGCCACA CATGCACGCCACACACACAGGCACACCACACACAGGCACGCCACACACAC AGGCACGCCACACACATGCACGCCACACACACAGGCACGCCACACACATG CACGCCACACG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00735.hp2 HG00140.hp1 HG00140.hp2 HG00735.hp2	a0002 a0002	a0002c0004 a0002c0006 a0002c0036 a0002c0004 a0002c0006 a0002c0036	a0002c0004t0001 a0002c0006t0001 a0002c0036t0001 a0002c0004t0001 a0002c0006t0001 a0002c0036t0001	a0002c0004t0001g0066 a0002c0006t0001g0173 a0002c0036t0001g0063 a0002c0004t0001g0066 a0002c0006t0001g0173 a0002c0036t0001g0063	3	430	0.0070	710	c.961 others(725): Show c.961-449_961-448insCGTGTGGCGTGCATGTGTGTGGCGTGCCTG TGTGTGTGGCGTGCATGTGTGTGGCGTGCCTGTGTGTGTGGCGTGCCTGT GTGTGGTGTGCCTGTGTGTGTGGCGTGCATGTGTGGCGTGCGTGTTTGGC ATGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGGCGTGCATG TGTGTGGCATGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCG TGCGTGTGTGGCGTGGCATTCGTGTGTGTGGCGTTTGTGTGGCGTTCGTG TGTGGCGTGCGTGTGGCGTGCGTGTGTGGCTGGCGTGCGTGTGTGCGTGC GTGTGTGGCTGGCGTGCGTGTGGCGTGCGTGTGTGGCGTGCGTTTGTGGC GTGCGTGTGTGTGTGGCGTGCTTGTGTGGCGTGCCTGTGTGGCGTGCGTG TGTGGCGGGCGTATGTGGCATGCATGTGTGTGGCGTGCGTGTGTGGCGTG CGTGTGTGGCGTGCGTGTGTGTGGCGTGTGTGTGTGGCGTGCCTGTGTGT GTGGCGTGCCTGTGTGTGTGGCGTGTGTGTGGCATGCGTGTGTGTGGCGT GCGTGTGTGGCGTGCCTGTGTGTGTGTGGCGTGTGTGTGTGGCGTGGCTG TGTGTGGCATGCGTGTGGCGTGCGTGTGTGGCATGCGTGGGTGGCGTGCC TGTGTGTGTGGCGTGCCTGTGTGTGGCGTG	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13			chr8	TogoVar
TRIM48_chr11_55257155_55276114	55273308	T T	TTATATAT others(703): Show TTATATATAAAAATTATATATATATTATATATATAAAAATTATATATATA TTATATATATAAAAATTATATATATATTATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0001 a0004c0010t0001g0001	1	272	0.0037	710	c.28 others(721): Show c.2873_*2874insTATATATAAAAATTATATATATATTATATATATA AAAATTATATATATATTATATATATAAAAATTATATATATATTATATATA TAAAAATTATATATATATTATATATATAAAAATTATATATATATTATATA TATAAAAATTATATATATATTATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2195		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273358	T T	TTATATAT others(703): Show TTATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATAAAA ATTATATATATTATATATATAAAAATTATATATATATTATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATAATATATATATAAAAATTATATATATAAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTGTATATATATAAAAATTA TATATATATTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	272	0.0037	710	c.29 others(721): Show c.2923_*2924insTATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATAAAAATTATATATATTATATATATAAAAATTATATATAT ATTATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATATAAAAATTATATATATATTATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATATAAAAATTATATATATAATATATATATAAA AATTATATATATAATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTGTA TATATATAAAAATTATATATATATTG	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2245		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(703): Show TTATATATATATATTATATATATATAAAAACTTATAATATATTATATATA TATAAAAATTATATATTATATATATATAAAAATTATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTAATATATATATTATATATATATAAAAATTATATATA TATTATATATATATAATATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AAATTATATATATATTATATATATATATAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATATTATATATATATAAAAATTATATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAAATTATATATATAT ATTATATATATATAAAAATTATATATATATATTATATATATATAAAAATT ATATATATATATTATATATATATAAAAATTATATATATATATTATATATA TATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	272	0.0037	710	c.29 others(721): Show c.2994_*2995insTATATATATATATTATATATATATAAAAACTTAT AATATATTATATATATATAAAAATTATATATTATATATATATAAAAATTA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTAATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAATATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAAATTATATATATATTATATATATATATAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATATTATATATATATAAAAATTATAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AAATTATATATATATATTATATATATATAAAAATTATATATATATATTAT ATATATATAAAAATTATATATATATATTATATATATATAAAAATTATATA TATATATTATATATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TRPM7_chr15_50552158_50691797	50679475	T T	TATATATA others(703): Show TATATATATATATTATATATATGTGTATATATATAATATATATATATATT ATATATATGTGTATATATATAATATATATATATATTATATATATGTGTAT ATATATAATATATATATATTATATATATGTGTATATATATAATATATATA TATATTATATATATGTGTATATATATAATATATATATATATTATATATAT GTGTATATATATAATATATATATATATTATATATATGTGTATATATATAA TATATATATATATTATATATATGTGTATATATATAATATATATATATATT ATATATATGTGTATATATATAATATATATATATTATATATATGTGTATAT ATATAATATATATATATTATATATATGTGTATATATATAATATATATATA TATATTATATATATGTGTATATATATAATATATATATATATTATATATAT GTGTATATATATAATATATATATATTATATATATGTGTATATATATAATA TATATATATTATATATATGTGTATATATATAATATATATATATATATTAT ATATATGTGTATATATATAATATATATATATATTATATATATGTGTATAT ATATAATATATATATATTATATATATGTGTATATATATAATATATATATA TATTATATATATGTGTATATATATAATATATATATATATTATATATATGT GTATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0144 a0001c0002t0001g0144	1	352	0.0028	710	c.3+7 others(723): Show c.3+7055_3+7056insTATATATATACACATATATATAATATATATAT ATATTATATATATACACATATATATAATATATATATATATTATATATATA CACATATATATAATATATATATATTATATATATACACATATATATAATAT ATATATATATTATATATATACACATATATATAATATATATATATATATTA TATATATACACATATATATAATATATATATATTATATATATACACATATA TATAATATATATATATTATATATATACACATATATATAATATATATATAT ATTATATATATACACATATATATAATATATATATATATATTATATATATA CACATATATATAATATATATATATTATATATATACACATATATATAATAT ATATATATTATATATATACACATATATATAATATATATATATATTATATA TATACACATATATATAATATATATATATATTATATATATACACATATATA TAATATATATATATATTATATATATACACATATATATAATATATATATAT ATTATATATATACACATATATATAATATATATATATATTATATATATACA CATATATATAATATATATATATTATATATATACACATATATATAATATAT ATATATATTATATATATACACATATATATAATATATATATATATTATATA TATACACATATATATAATATATATATAT	TRPM7	ENSG00000092439.16	transcript	ENST00000646667.1	protein_coding	1/38			chr15	TogoVar
TUBGCP2_chr10_133273635_133313872	133291823	C C	CTCCGTGT others(703): Show CTCCGTGTCCCCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGA GAGGGCAGCACGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCGT GTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCAC CGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCGTGTCCCCGTGTCCCGG GGAGCCCTACCTGTACGGGAGAGGGCAGCACGCACCGTCCGTGTCCCCCG TGTCCCTCCGTGTCCCTGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGG GCAGCACGCACCGTCCGTGTCCCCCGTGTCCCTCCGTGTCCCTGTGTCCC GGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCACCGTCCGTGTCCCC CGTGTCCCTCCGTGTCCCTGTGTCCCGGGGAGCCCTACCTGTACGGGAGA GGGCAGCACGCACCGTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCGTGTC CCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCACCGTCCGTGTCC CCCATGTCCCTCCGTGTCCCCCGTGTCCCCGTGTCCCGGGGAGCCCTACC TGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGT GTCCCCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGC AGCACGCACCG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	284	0.0035	710	c.121 others(727): Show c.1214+675_1214+676insCGGTGCGTGCTGCCCTCTCCCGTACAGG TAGGGCTCCCCGGGACACGGGGACACGGGGGACACGGAGGGACATGGGGG ACACGGACGGTGCATGCTGCCCTCTCCCGTACAGGTAGGGCTCCCCGGGA CACGGGGACACGGGGGACACGGAGGGACATGGGGGACACGGACGGTGCGT GCTGCCCTCTCCCGTACAGGTAGGGCTCCCCGGGACACGGGGACACGGAG GGACACGGGGGACACGGACGGTGCGTGCTGCCCTCTCCCGTACAGGTAGG GCTCCCCGGGACACAGGGACACGGAGGGACACGGGGGACACGGACGGTGC GTGCTGCCCTCTCCCGTACAGGTAGGGCTCCCCGGGACACAGGGACACGG AGGGACACGGGGGACACGGACGGTGCGTGCTGCCCTCTCCCGTACAGGTA GGGCTCCCCGGGACACAGGGACACGGAGGGACACGGGGGACACGGACGGT GCGTGCTGCCCTCTCCCGTACAGGTAGGGCTCCCCGGGACACGGGGACAC GGGGGACACGGAGGGACATGGGGGACACGGACGGTGCATGCTGCCCTCTC CCGTACAGGTAGGGCTCCCCGGGACACGGGGACACGGGGGACACGGAGGG ACATGGGGGACACGGACGGTGCGTGCTGCCCTCTCCCGTACAGGTAGGGC TCCCCGGGACACGGGGACACGGGGGACACGGA	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
UCN3_chr10_5359966_5379692	5370021	G G	GTGTGTAT others(703): Show GTGTGTATGTGTGTGTGTATGTGTGTGTGTATGTGTGTGTGTATATGTGT GTGTATATGTGTGTGTATATGTGTGTTCATGTGTATGTGTGTAAGGTGTG TGTGTATATGTGTGTGTGTGTGTGTATGTGTGTGTATATGTGTGTGTATG TGTGTGTATATGCGTGTGTATGCGTGTGTATATGCGTGTATATGCGTGTG TATGCGTGTGTATATGTGTGTATGTGTGTATGTGTGTGTGTGTATATGTG TGTGTGTATATGTGCGTGTATATGTGTGTGTGTATGTGTGTATGTGTGTG TATATGTGTGTATATGTGTGTGTGTGTATATGTGCGTGTATATGTGTGTG TGTGTATGTGTGTGTATATGTGTGTGTGTATGTGTGTGTATGTGTGTGTA TGTGTGTGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTGTATATGTG TTCATGTGTATGTGTGTAAGGTGTGTATGTGTGTGTATATGTGTGTGTAT ATGTGTGTGTGTATATGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTGT GTATATGTGTGTGTGTATATGCATGTGTGTGTGTGTGTGTGTATGTGTGT GTGTGTATGCGTGTGTATATGTGTGTGTATATGCGTGTGTATGTGTGTGT ATGTGTATGTGTATATGTGTGTGTATGTGTGTGTGTATATGCGTGTGTAT ATGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0185 a0001c0002t0002g0185	1	468	0.0021	710	c.-6- others(725): Show c.-6-3689_-6-3688insATGTGTGTGTGTATGTGTGTGTGTATGTGT GTGTGTATATGTGTGTGTATATGTGTGTGTATATGTGTGTTCATGTGTAT GTGTGTAAGGTGTGTGTGTATATGTGTGTGTGTGTGTGTATGTGTGTGTA TATGTGTGTGTATGTGTGTGTATATGCGTGTGTATGCGTGTGTATATGCG TGTATATGCGTGTGTATGCGTGTGTATATGTGTGTATGTGTGTATGTGTG TGTGTGTATATGTGTGTGTGTATATGTGCGTGTATATGTGTGTGTGTATG TGTGTATGTGTGTGTATATGTGTGTATATGTGTGTGTGTGTATATGTGCG TGTATATGTGTGTGTGTGTATGTGTGTGTATATGTGTGTGTGTATGTGTG TGTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTATATG TGTGTGTATATGTGTTCATGTGTATGTGTGTAAGGTGTGTATGTGTGTGT ATATGTGTGTGTATATGTGTGTGTGTATATGTGTGTGTGTGTATGTGTGT GTATGTGTGTGTGTGTATATGTGTGTGTGTATATGCATGTGTGTGTGTGT GTGTGTATGTGTGTGTGTGTATGCGTGTGTATATGTGTGTGTATATGCGT GTGTATGTGTGTGTATGTGTATGTGTATATGTGTGTGTATGTGTGTGTGT ATATGCGTGTGTATATGTGTGTGTATGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
VPS53_chr17_503668_719839	646603	C C	CGGACTGG others(703): Show CGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGTGTGGCCACTG CCTCCTAAGGGTCTTATCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGGGTCTTATCTT TTCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACATCTCTGTG ACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCA CTGACTGGAGATCGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTG CCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGG CTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTT ATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCT CCGTGACCGCG	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0077 a0001c0002t0077	a0001c0002t0077g0095 a0001c0002t0077g0095	1	232	0.0043	710	c.608 others(727): Show c.608+6687_608+6688insCGCGGTCACGGAGATGTGTGTGGGAGCC AGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCA GTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTG ATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCA CGGAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAA GATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGATGTGTGTGG GAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTGGC CGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGC GGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGG CGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACACGGTCA CGGAGATGTGTGTGGGAGCCAGTCTCCAGTCC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	7/21			chr17	TogoVar
VSIG1_chrX_108040065_108084184	108041553	C C	CGTGTGTG others(703): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGCATGTGTACATGCA TAGAAAAAGGTCTGAGAAAAATGCTAAACTCCTGTTCCATGTGAGCCTGG GAAAGGGATTACATGTGTGAGTGAATGAATGGGACTTTTTTTCCTCTGTA TCCTTGTTTGTCCTTTGAAAACCATTTACTATCAAAATGTATTACTTTTG TAATTTTTAAGTTAAAAATGAGGGATAAATCAGATATCACATATTTCTGA AAGTTCCCAAGGAAGAATACTGGGGGCAGTAGCATATTTGTTACATTACA ATCACACCGTGCCATTGTGTGGTGTGATAGGAACAGCTTCTAATGCGTGC TATGGTGACCTTGGGAAAAGCACAGCACTTTTGAGCCTCAGTTTTCTTAT ATAGAAAATGTAGGTATACCTGACTTATTTGTTGTATTGGAAAGCTACAT GTTCATTGAACCATTGTCAATAATATTGAAAAACTGGAAACCATCTAAGA ATTTACCAATAAGAGAATGATTAAATAAATTGAGGTACATTCATATCATG AAATACCATGCAGCCTTAACATGGACAAGGTTGATCTATAGATGCAGTTG GACCCAGTGACAGAAAGAGAGAATAAAAATACCTTTTTTAAGGGAGAAAA GCAAATTATAGAACAAAATGTACAGTATTATCATCTTTATGTTTTAAAAA ACCTCGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG01884.hp2 HG01975.hp2 others(7): Show HG00558.hp2 HG01884.hp2 HG01975.hp2 HG01978.hp2 NA18944.hp1 NA18984.hp1 NA19003.hp1 NA19010.hp1 NA19056.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0045 others(5): Show a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0045 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0061	10	281	0.0356	710	c.-35 others(721): Show c.-3578_-3577insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGT GCATGTGTACATGCATAGAAAAAGGTCTGAGAAAAATGCTAAACTCCTGT TCCATGTGAGCCTGGGAAAGGGATTACATGTGTGAGTGAATGAATGGGAC TTTTTTTCCTCTGTATCCTTGTTTGTCCTTTGAAAACCATTTACTATCAA AATGTATTACTTTTGTAATTTTTAAGTTAAAAATGAGGGATAAATCAGAT ATCACATATTTCTGAAAGTTCCCAAGGAAGAATACTGGGGGCAGTAGCAT ATTTGTTACATTACAATCACACCGTGCCATTGTGTGGTGTGATAGGAACA GCTTCTAATGCGTGCTATGGTGACCTTGGGAAAAGCACAGCACTTTTGAG CCTCAGTTTTCTTATATAGAAAATGTAGGTATACCTGACTTATTTGTTGT ATTGGAAAGCTACATGTTCATTGAACCATTGTCAATAATATTGAAAAACT GGAAACCATCTAAGAATTTACCAATAAGAGAATGATTAAATAAATTGAGG TACATTCATATCATGAAATACCATGCAGCCTTAACATGGACAAGGTTGAT CTATAGATGCAGTTGGACCCAGTGACAGAAAGAGAGAATAAAAATACCTT TTTTAAGGGAGAAAAGCAAATTATAGAACAAAATGTACAGTATTATCATC TTTATGTTTTAAAAAACCTCGTGTGT	VSIG1	ENSG00000101842.14	transcript	ENST00000217957.10	protein_coding		3511		chrX	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(703): Show TCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCC TTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTC CCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCC CCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCC CCTTCCCCCCTTTCCCCCCTTTTCCCTTTCCCCCCTTTCCCCCTTCCCCC TTCCCCCTTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCC TTTCCCCCCTTTTCCCTTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTT TCCCCCCTTCCCCCTTCCCCCCCTTTCCCCCTTCCCCCTTCCCCCCCTTC CCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCC CTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTC CCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTTCCCCCCTTT TCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCC CCCTTTCCCCC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0182 a0001c0001t0019g0182	1	246	0.0041	710	c.-10 others(727): Show c.-10-3193_-10-3192insCCCCCTTCCCCCTTCCCCCTTCCCCCCT CCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCC TTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCT TCCCCCCTTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTTTCCCTTT CCCCCCTTTCCCCCTTCCCCCTTCCCCCTTTCCCCCCTTCCCCCTTCCCC CCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTTTCCCTTTCCCCCCTTTC CCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCTTCCCCCCCTTTCCC CCTTCCCCCTTCCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCT TCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCC TTTCCCCCCTTTCCCCCCTTTTCCCCTTCCCCCCTTTCCCCCTTCCCCCT TCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(703): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAATAT ATATTATAACTATATTAAATATATAAATTATATAATATATATTATATATT GTATATTATATAATTTATATAATATATTATATGTTATATAATATATATTA TATATTGTATATATTATATTATATATTATATATTTTATATATCATATATA GTATGCTATATAATATATATTTTTATATATTATATAGTATACTATATATT TTTATATATTATATATAATATATATAATTATATATCATATATATTTATAT AATATATGATATATAATATATAATATATATTATGTATTATATAATTATAT AAAATATATCATATATTATATATTATAAATAATATATTATATATATTATA TATTATAAATAATATATTATATATTATATTATATATTATAAATAATATAT TATATATTATATTATATATTATAAATAATATATTATATATTATATTATAT ATTATAAATAATATATTATATATTATATTATATATTATAAATAATATATT ATATATTATATTATATATTATAAATAATATATTATATATTATATTATATA TTATAAATAATATATTATATATTATATTATATATTATAAATAATATATTA TATATTATATTATAAATAATATATTATATATTATAAATAATATATTATAT ATAATATGTTA	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA18955.hp1 NA18991.hp2 HG01074.hp2 NA18955.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0142 a0001c0001t0010g0088 a0001c0001t0010g0089 a0001c0001t0001g0142 a0001c0001t0010g0088 a0001c0001t0010g0089	3	302	0.0099	710	c.-1- others(727): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAATATATATTATAACTATATTAAATATATAAATTATATA ATATATATTATATATTGTATATTATATAATTTATATAATATATTATATGT TATATAATATATATTATATATTGTATATATTATATTATATATTATATATT TTATATATCATATATAGTATGCTATATAATATATATTTTTATATATTATA TAGTATACTATATATTTTTATATATTATATATAATATATATAATTATATA TCATATATATTTATATAATATATGATATATAATATATAATATATATTATG TATTATATAATTATATAAAATATATCATATATTATATATTATAAATAATA TATTATATATATTATATATTATAAATAATATATTATATATTATATTATAT ATTATAAATAATATATTATATATTATATTATATATTATAAATAATATATT ATATATTATATTATATATTATAAATAATATATTATATATTATATTATATA TTATAAATAATATATTATATATTATATTATATATTATAAATAATATATTA TATATTATATTATATATTATAAATAATATATTATATATTATATTATATAT TATAAATAATATATTATATATTATATTATAAATAATATATTATATATTAT AAATAATATATTATATATAATATGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(703): Show CCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTC CCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTT CCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCT CCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCCTCCCCTC CCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCC CCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCC TCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACCCT CCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCCCCTCCC CCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCCCCTCCCCT CCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCCCTTCCCCTCCCCTCC CCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCCCCTCC CCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTCCTCCCCTCCTCC CTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTACTCC CGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTCTCCC CTTCCCCCTCA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	322	0.0031	710	c.4-1 others(723): Show c.4-1376_4-1375insCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTC CTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCC TCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTT CCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCC CCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCT CCTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCT TCCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCC TCCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCC CTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTC TCCCCTCCCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCCCTTC CCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCC CTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTCC TCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTC CCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCC TCCCCTCTCCCCTTCCCCCTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCC1_chr16_15944616_16148053	15999866	C C	CCTTCCTT others(704): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0059 a0001c0002t0003g0059	1	249	0.0040	711	c.49- others(726): Show c.49-7950_49-7949insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30			chr16	TogoVar
ABCC4_chr13_95014835_95306451	95025448	A A	ACACCCAT others(704): Show ACACCCATACACACACCAGACCCCCACACCCCCACACACAGCCACACCCC CACACCCATACACACACACCCACCCACCCACACCCACACCCACCACACAC ACCCACACCCCCCCCACACACCCACATACCCCCACCACACACCCACACAC CCCCTCACACACACACCCACACCCACCACACACCCCCACCACACACCCAC ATACACCCACACCCCCACCACACACCCCCACATACTAATACACACACACC CACACCCTCCCACCCCCCCACCACACACCAATACACACCCACACACCCCC TCACACACACACCCACACACCCACACACCCACCACACACCCATACATACA CACCCCCACACCCCCTCACACCCTCCCCCCACTCACCCATACACAACCCC CACCACACCCCCACACCCATACACACACACACCCCCACCACACCCATACA CACACCCCTGCACCCCCTCACACACCCTCCCCCCCACACACCCATACACA CACCCCCACACCCCCACCACACCCATACACACACACCCGTACCCCCTCAC ACCCTCCCCCCACACACCCATCCCCACCACACACCCATACACACACACCC ACACACACACCACACCCATACACACACATACCCCCACACCCCCACACACA CCCTCCCTCACACACACCCCCACCACACACCCATACACACCCCAACCCCC CACACACACACC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03098.hp2 HG03130.hp1 others(1): Show HG02965.hp1 HG03098.hp2 HG03130.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0012 a0001c0013 a0001c0024 others(1): Show a0001c0012 a0001c0013 a0001c0024 a0002c0064	a0001c0012t0006 a0001c0013t0006 a0001c0024t0006 others(1): Show a0001c0012t0006 a0001c0013t0006 a0001c0024t0006 a0002c0064t0006	a0001c0012t0006g0224 a0001c0013t0006g0031 a0001c0024t0006g0032 others(1): Show a0001c0012t0006g0224 a0001c0013t0006g0031 a0001c0024t0006g0032 a0002c0064t0006g0045	4	248	0.0161	711	c.387 others(730): Show c.3871-3767_3871-3766insGGTGTGTGTGTGGGGGGTTGGGGTGT GTATGGGTGTGTGGTGGGGGTGTGTGTGAGGGAGGGTGTGTGTGGGGGTG TGGGGGTATGTGTGTGTATGGGTGTGGTGTGTGTGTGGGTGTGTGTGTAT GGGTGTGTGGTGGGGATGGGTGTGTGGGGGGAGGGTGTGAGGGGGTACGG GTGTGTGTGTATGGGTGTGGTGGGGGTGTGGGGGTGTGTGTATGGGTGTG TGGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGT GGGGGTGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTATGG GTGAGTGGGGGGAGGGTGTGAGGGGGTGTGGGGGTGTGTATGTATGGGTG TGTGGTGGGTGTGTGGGTGTGTGGGTGTGTGTGTGAGGGGGTGTGTGGGT GTGTATTGGTGTGTGGTGGGGGGGTGGGAGGGTGTGGGTGTGTGTGTATT AGTATGTGGGGGTGTGTGGTGGGGGTGTGGGTGTATGTGGGTGTGTGGTG GGGGTGTGTGGTGGGTGTGGGTGTGTGTGTGAGGGGGTGTGTGGGTGTGT GGTGGGGGTATGTGGGTGTGTGGGGGGGGTGTGGGTGTGTGTGGTGGGTG TGGGTGTGGGTGGGTGGGTGTGTGTGTATGGGTGTGGGGGTGTGGCTGTG TGTGGGGGTGTGGGGGTCTGGTGTGTGTATGGGTG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ADAMTS14_chr10_70667506_70767441	70686955	C C	CGGGGCGG others(704): Show CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCACTGGCC GGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC TGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGAGGCGGCTGGCC GGGCGTGGGGCTGACACCCCCACCTCCCTCCTGGACAGGGCGGCTGGCCG GGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCAACTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCAC CTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0014 a0001c0007t0014	a0001c0007t0014g0119 a0001c0007t0014g0119	1	354	0.0028	711	c.522 others(730): Show c.522+12172_522+12173insGGCTGGCCGGGCGGGGGGGCTGACCC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCCACTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGA GGCGGCTGGCCGGGCGTGGGGCTGACACCCCCACCTCCCTCCTGGACAGG GCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCAACTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCT GACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(704): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCGTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCATCCATTCATCCATCCACCCACCCATTCATCCATCCACC CCATCCATTCATCCATCCACCCATCCATTCATCCATTCACCCACCCATTC ATCCATCCACCCATCCATTCATCCATTCACCCACCCACTCATCCATCCAC CCATCCATTCATCCATTCACCCACCCATTCATCCATCCACCCATCCATTC ATCCATTCACCCACCCATTCATCCATCCACCCATCCATTCATCCATTCAC CCATCCATTCATCCATCCACCCATCCATTCATCCATTCACCCACCCACTC ATCCATCCACCCATCCATTCGCCCACCCATTTACCTACCCATTAATTCAC CCACCCTTCCACCACCCACCCACCCATCCATATACCCACCCACCCATTCA CCCATCCATTCATCCATCCACCCACCCACCCATTCACCCACCCACCCAGC CATCTCACCCATTCACCCATCCACTCATCCATTCACCTATCCACCCACCC ATCCACTCATCC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	262	0.0038	711	c.775 others(726): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGCGAATGGATGGGTGGATGGATGAGTGGGTGGGTGAATGG ATGAATGGATGGGTGGATGGATGAATGGATGGGTGAATGGATGAATGGAT GGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGG ATGAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAGTGGGT GGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGG ATGAATGGATGGGTGGATGGATGAATGGATGGGGTGGATGGATGAATGGG TGGGTGGATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGTGAATG GATGAATGGGTGGGTGGATGGATGAGTGGACGGGTGAATTGATGGGTGGG TGGGTATATGGATGGGTGGGTGGGTGGGTGGTGGAACGGTGGGTGAATGG ATGGGTTGATAAATGGGTGGGCGAATGGATGGGTGGATGGATGAGTGGAT GGTGAATGGATGGGTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
C8orf82_chr8_144520733_144534111	144531191	A A	CGAGCAGC others(704): Show CGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAG GCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGG CTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTG GGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGG TGGGGAGTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCA GGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAG CAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGC AGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGG GCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	398	0.0025	711	c.-22 others(721): Show c.-2275delTinsCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCT AGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCT GCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGT GCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCC TTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGC CCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCT GCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCG CTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCC CACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTC CCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTGTGTCCAGTCCAC ACCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCG	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2080		chr8	TogoVar
CABP5_chr19_48024383_48049079	48043533	C C	CCACCACC others(704): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCTCACC ATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCTCACC ATCACCATCACCACCACCATCACCACCACCATCACCATCACCATCACCAC CACCACCATCACCACCAGCACCACCAGCACCACCACCATCAACATCATCA TCATCACCACCATCACCACCATCATCACCACCACCGTCATCACCACCAGC ACCACCATCACCACCACCATCACCACCATCTCACCATCATCACCATCACC ATCACCATCACCACCATCTCACCATCACCATCACCACCATCATCACCACC ACCATCTCACCATCACCATCACCACCATCATCACCACCACCATCACCACC ACCATCACCATCACCATCACCACCATCATCATCACCACCACCACCACCAC CACCACCACCATCATCACCATCACCACCAGCACCACCACCATCACCACCA CCATCACCACCACCATCACCACCACCACCACCACCACCATCATCACCATC ACCACCAGCACCACCACCAACATCATCATCATCACCACCACCACCACCAT CACCACCACCACCACCATCAACACCACCATCATCATCACCACCACCACCA TCACCACCATCT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0283 a0001c0001t0002g0283	1	376	0.0027	711	c.63+ others(724): Show c.63+326_63+327insAGATGGTGGTGATGGTGGTGGTGGTGATGATG ATGGTGGTGTTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGAT GATGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGATGATGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTG CTGGTGGTGATGGTGATGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGAT GATGATGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGA TGATGGTGGTGATGGTGATGGTGAGATGGTGGTGGTGATGATGGTGGTGA TGGTGATGGTGAGATGGTGGTGATGGTGATGGTGATGGTGATGATGGTGA GATGGTGGTGATGGTGGTGGTGATGGTGGTGCTGGTGGTGATGACGGTGG TGGTGATGATGGTGGTGATGGTGGTGATGATGATGATGTTGATGGTGGTG GTGCTGGTGGTGCTGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGAT GGTGGTGGTGATGGTGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGT GGTGATGGTGATGATGATGGTGGTGGTGATGGTGAGATGGTGGTGATGGT GGTGGTGGTGGTTATGGTGGTGGTGGTGGTGATGATGGTGATGATGATGG TGTTGATGATGGTGATGATGATGGTGGTG	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	1/5			chr19	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(704): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATAATTTTAT ATATATATAATTATATATATATTTATATATATATATAATTATATATATAT ATAAAATTATATATATAATTATATATATATTATATATAATTATATATATA ATTATATATATATAATTATATATATTTATATATATATATATAATTATATA TATATATAAAATTATATATATAATTATATATATATTATATATAATTATAT ATATATATTATATATAATTTTATATATATAATTATATATATAATTTTATA TATATAATTTTATATATATAATTTTATATATATAATTTTATATATATAAT TATATATATAATTTTATATATATAATTATATATATAATTTTATATATATA TAATTATATATATAATTTTATATATATATAATTATATATATAATTATATA TATATATAATTATATATATAATTTTATATATATATAATTATATATATAAT TATATATATAATTTTATATATATAATTATATATATAATTATATATATATA TAATTATATATATAATTTTATATATATAATTATATATATAATTTTATATA TATATAATTATATATATAATTTTATATATATAATTATATATATAATTTTA TATATATATAAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0263 a0001c0007t0001g0263	1	330	0.0030	711	c.907 others(726): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAATTATATATATATATAATTATA TATATAATTATATATATAAAATTATATATATAATTATATATATAATTATA TATATATAAAATTATATATATAATTATATATATATATAATTATATATATA ATTATATATATATAAAATTATATATATAATTATATATATATAAAATTATA TATATAATTATATATATAAAATTATATATATAATTATATATATAAAATTA TATATATAAAATTATATATATAAAATTATATATATAAAATTATATATATA ATTATATATATAAAATTATATATAATATATATATATAATTATATATAATA TATATATAATTATATATATAATTTTATATATATATATAATTATATATATA TATATAAATATATATAATTATATATATATAATTATATATATAATTATATA TAATATATATATAATTATATATATAATTTTATATATATATATAATTATAT ATATATATAAATATATATATAATTATATATATATAAAATTATATATATAA TTATATATATATAAAATTATATATATAATTATATATATATAAAATTATAT ATATAATTATATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(704): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATAATTTTAT ATATATATAATTATATATATATTTATATATATATATAATTATATATATAT ATAAAATTATATATATAATTATATATATATTATATATAATTATATATATA ATTATATATATATAATTATATATATTTATATATATATATATAATTATATA TATATATAAAATTATATATATAATTATATATATATTATATATAATTATAT ATATATATTATATATAATTTTATATATATAATTATATATATAATTTTATA TATATAATTTTATATATATAATTTTATATATATAATTTTATATATATAAT TATATATATAATTTTATATATATAATTATATATATAATTTTATATATATA TAATTATATATATAATTTTATATATATATAATTATATATATAATTATATA TATATATAATTATATATATAATTTTATATATATATAATTATATATATAAT TATATATATAATTTTATATATATAATTATATATATAATTTTATATATATA TAATTATATATATAATTTTATATATATAATTATATATATAATTTTATATA TATATAATTATATATATAATTTTATATATATAATTATATATATAATTTTA TATATATATAAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18906.hp2 HG02257.hp2 NA18906.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0264 a0001c0007t0001g0265 a0001c0007t0001g0264 a0001c0007t0001g0265	2	330	0.0061	711	c.907 others(726): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAATTATATATATATAAAATTATA TATATAATTATATATATAAAATTATATATATAATTATATATATAATTATA TATATATAAAATTATATATATAATTATATATATATATAATTATATATATA ATTATATATATATAAAATTATATATATAATTATATATATATAAAATTATA TATATAATTATATATATAAAATTATATATATAATTATATATATAAAATTA TATATATAAAATTATATATATAAAATTATATATATAAAATTATATATATA ATTATATATATAAAATTATATATAATATATATATATAATTATATATAATA TATATATAATTATATATATAATTTTATATATATATATAATTATATATATA TATATAAATATATATAATTATATATATATAATTATATATATAATTATATA TAATATATATATAATTATATATATAATTTTATATATATATATAATTATAT ATATATATAAATATATATATAATTATATATATATAAAATTATATATATAA TTATATATATATAAAATTATATATATAATTATATATATATAAAATTATAT ATATAATTATATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(704): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATAATTTTAT ATATATATAATTATATATATATTTATATATATATATAATTATATATATAT ATAAAATTATATATATAATTATATATATATTATATATAATTATATATATA ATTTTATATATATAATTATATATATTTATATATATATATATAATTATATA TATATATAAAATTATATATATAATTATATATATATTATATATAATTATAT ATATATATTATATATAATTTTATATATATAATTATATATATAATTTTATA TATATAATTTTATATATATAATTTTATATATATAATTTTATATATATAAT TATATATATAATTTTATATATATAATTATATATATAATTTTATATATATA TAATTATATATATAATTTTATATATATATAATTATATATATAATTATATA TATATATAATTATATATATAATTTTATATATATATAATTATATATATAAT TATATATATAATTTTATATATATAATTATATATATAATTTTATATATATA TAATTATATATATAATTTTATATATATAATTATATATATAATTTTATATA TATATAATTATATATATAATTTTATATATATAATTATATATATAATTTTA TATATATATAAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03225.hp1 HG02622.hp2 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0310 a0002c0002t0001g0002 a0002c0002t0001g0310	2	330	0.0061	711	c.907 others(726): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAATTATATATATATAAAATTATA TATATAATTATATATATAAAATTATATATATAATTATATATATAATTATA TATATATAAAATTATATATATAATTATATATATATATAATTATATATATA ATTATATATATATAAAATTATATATATAATTATATATATATAAAATTATA TATATAATTATATATATAAAATTATATATATAATTATATATATAAAATTA TATATATAAAATTATATATATAAAATTATATATATAAAATTATATATATA ATTATATATATAAAATTATATATAATATATATATATAATTATATATAATA TATATATAATTATATATATAATTTTATATATATATATAATTATATATATA TATATAAATATATATAATTATATATATAAAATTATATATATAATTATATA TAATATATATATAATTATATATATAATTTTATATATATATATAATTATAT ATATATATAAATATATATATAATTATATATATATAAAATTATATATATAA TTATATATATATAAAATTATATATATAATTATATATATATAAAATTATAT ATATAATTATATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255330	T T	TTATATAT others(704): Show TTATATATATAATTTTATATATATATAATTATATATACAATTTTATATAT ATATAATTATATATACAATTTTATATATATATAATTATATATACAATTTT ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATAATTATATATATAATTTTATAT ATATATAATTATATATATAATTTTATATATATATAATTTTATATATAATT ATATATATAATTTTATATATAATTATATATATAATTTTATATATAATTAT ATATATAATTTTATATATAATTATATATATAATTTTATATATAATTATAT ATATAATTTTATATATAATTATATATATAATTTTATATATATATAATTAT ATATATTATATAATTTTATATATATAATTATATATATTATATAATTATAT ATATAATTTTATATATATATAATTATATATACAATTTTATAATATATATA ATTATATATACAATTATATATATATATAATTATATATATATAATTGTATA TATAATTTTATATATATAATTATATATAATTTTATATATATATAATTATA TATATAATTATATATATATAATTATATATATTTATATATATATATAATTA TATATATAATTTTATATATATAATTTTATATAATTTTATATATAATTATA TATATAATTTTA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0072 a0003c0003t0001g0072	1	330	0.0030	711	c.907 others(726): Show c.907+219_907+220insTAAAATTATATATATAATTATATATAAAAT TATATAAAATTATATATATAAAATTATATATATAATTATATATATATATA AATATATATAATTATATATATATAATTATATATATAATTATATATATATA AAATTATATATAATTATATATATAAAATTATATATACAATTATATATATA TAATTATATATATATATAATTGTATATATAATTATATATATTATAAAATT GTATATATAATTATATATATATAAAATTATATATATAATTATATAATATA TATAATTATATATATAAAATTATATAATATATATAATTATATATATATAA AATTATATATATAATTATATATAAAATTATATATATAATTATATATAAAA TTATATATATAATTATATATAAAATTATATATATAATTATATATAAAATT ATATATATAATTATATATAAAATTATATATATAATTATATATAAAATTAT ATATATATAAAATTATATATATAATTATATATATATAAAATTATATATAT AATTATATATATAAAATTATATATATAATTATATATATATAAAATTATAT ATATAATTATATATATATAATTATATATATATAAAATTGTATATATAATT ATATATATATAAAATTGTATATATAATTATATATATATAAAATTGTATAT ATAATTATATATATATAAAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(704): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGG GAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGG GGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGG GAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGA GGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCGGGGGAGGGGGGAGGA GGGGGAGCTGGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGA GCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGC TGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCTGG GGAGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAG GGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGG GGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGG AGGAGGGAGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGG AGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAG GGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGGGAGAAGAG GAGGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0014 a0001c0003t0002g0014	1	168	0.0060	711	c.-26 others(720): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCCTCCCCTGCTC CCCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCC CTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTC CTCCCCCCTCCCCTGCTCTCCCTCCTCCCCCTCCCCTGCTCCCCCTCCTC CCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCC CCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCC CTCCCCTGCTCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCTCCC CAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCA GCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCAGC TCCCCCTCCTCCCCCCCAGCTCCCCCTCCTCCCCCCTCCCCCGCTCCCCC TCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCC TCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTC CCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCC CTCCCCTGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTC CCCTGCTCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CMIP_chr16_81439808_81716762	81704601	C C	CCCCCCAC others(704): Show CCCCCCACCCACTCACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTGTCC CCCTTACTCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCCACCCTC CTCCCTGCCCCCTTACTCTCCTCCCTGCCCCTTCACCCTCCTCCCTGCTC CCCTCACCCTCCTCCCTGTCCCCTCACCCTCCTCCCTCACCCTCCCCCTC CTCCCTCACCCTCCCCCTCCTCCCTCACCCTCCCCCTCCTCCCTCCCCCG TCCCTCCTCCCTCCCCCTCACCCTTCTCCCTGCCCCCTCACCCCCCTCCC TGCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTACCCCTCACC CTCCTCCCTGCCCCTTCATCCTCCTCCCTGCCCCTTCACCCTCCTCCCTG CTCCCCTCACCCTCCTCCCTGCTCCCTCACCCTCCTCAGTGCCCCCTCAC CCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCCCT GCCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCTCAC CCTCCTCTCTTTCCCCTCACCTTCCTCCCTGCCCCTTCACCCTCCTCCCT GCCCACTCACCCTCCTCCCTGCCCCCGCACCTTCTTCCCTGCCCCCTCAC CCTCCTCCCTGCCCCCTCACTCTCCTCCCTAACTTGTTCACCCTCCTCCC TACCCCTTCATT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	268	0.0037	711	c.209 others(728): Show c.2091+517_2091+518insCCCCACCCACTCACCCTCCTCCCTGCCC CCTCACCCTCCTCCCTGTCCCCCTTACTCTCCTCCCTGCCCCCTCACCCT CCTCCCTGCCCCCCACCCTCCTCCCTGCCCCCTTACTCTCCTCCCTGCCC CTTCACCCTCCTCCCTGCTCCCCTCACCCTCCTCCCTGTCCCCTCACCCT CCTCCCTCACCCTCCCCCTCCTCCCTCACCCTCCCCCTCCTCCCTCACCC TCCCCCTCCTCCCTCCCCCGTCCCTCCTCCCTCCCCCTCACCCTTCTCCC TGCCCCCTCACCCCCCTCCCTGCCCCTCACCCTCCTCCCTGCCCCCTCAC CCTCCTCCCTACCCCTCACCCTCCTCCCTGCCCCTTCATCCTCCTCCCTG CCCCTTCACCCTCCTCCCTGCTCCCCTCACCCTCCTCCCTGCTCCCTCAC CCTCCTCAGTGCCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCCCT GCCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCTCAC CCTCCTCCCTGCCCCCTCACCCTCCTCTCTTTCCCCTCACCTTCCTCCCT GCCCCTTCACCCTCCTCCCTGCCCACTCACCCTCCTCCCTGCCCCCGCAC CTTCTTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCTCACTCTCCTCCCT AACTTGTTCACCCTCCTCCCTACCCCTTCATTC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(704): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCC CTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCC CCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCC CCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCT CTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCCTCCTCCCCCTCCCCCTCT TCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCTTCCTCCTC CTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCT CTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCC TCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0145 a0001c0003t0016g0145	1	270	0.0037	711	c.162 others(732): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCC TCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCC CTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCC CCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTC CTCCTCCTCCCCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTC CCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCC TCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTC CCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL21A1_chr6_56051590_56252580	56098080	A A	AATAAATA others(704): Show AATAAATATATATAAATATATATAAATATAAATATATATATAAATATGTA ATTCTAAATATATATGTAAATATATATAAATATAAATATATTTATAAATA TATAAATATATATATATTTATAAATATATAAATATATATATATTTATAAA TATATAAATATATATATATTTATAAATATATAAATATATATATATTTATA AATATATAAATATATATATATTTATAAATATATAAATATATATAAAAATA TATATAAATATATAAAAAATATAAATATATATAAATATATAAATATATGT AAATATATATAAATATATATATAAATATATATATAAATATATATATAAAT ATATATATAAATATATATATATAAATATATATAAATATATAACTATATAA ATAAATATATATAAATATATAAATATATAAAAATATATATAAATATATAT GTAAATATATAAATATATATAAATATATATAAATATATATAAGTATATAA ATATATATAAATATATATAAGTATATAAATATATATATAAATATATATAA GTATATAAATATATATATAAATATATATAAGTATATAAATATATATAAAT ATATATAAGTATATAAATATATATATAAATATATATAAGTATATATAAAT ATATATAAATATATATAAGTATATATAAATATATAAAAATATATATAAGT ATATATAAATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0048 a0001c0001t0003g0045 a0001c0001t0003g0048	2	264	0.0076	711	c.181 others(730): Show c.1812+3391_1812+3392insATATTTATATATACTTATATATATTT TTATATATTTATATATACTTATATATATTTATATATATTTATATATACTT ATATATATTTATATATATATTTATATACTTATATATATTTATATATATTT ATATACTTATATATATTTATATATATATTTATATACTTATATATATTTAT ATATATATTTATATACTTATATATATTTATATATATTTATATACTTATAT ATATTTATATATATTTATATATATTTATATATTTACATATATATTTATAT ATATTTTTATATATTTATATATTTATATATATTTATTTATATAGTTATAT ATTTATATATATTTATATATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATATTTATATATATTTACATATATTTATAT ATTTATATATATTTATATTTTTTATATATTTATATATATTTTTATATATA TTTATATATTTATAAATATATATATATTTATATATTTATAAATATATATA TATTTATATATTTATAAATATATATATATTTATATATTTATAAATATATA TATATTTATATATTTATAAATATATATATATTTATATATTTATAAATATA TTTATATTTATATATATTTACATATATATTTAGAATTACATATTTATATA TATATTTATATTTATATATATTTATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GGGGAAGG others(704): Show GGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAG GAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGG GCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGA AGGGAGGGGAAAGGCAGGAAGGGAGGAGGAAGGCAGGAAGGGAGGGGGAA GGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGG AAGGGGGAAGGCAGGAAGGGAGGAGGAAGGCAGGAAGGGAAGGGGGAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAG GGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGG GAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAG GGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAA GGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGG GGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0158 a0001c0003t0001g0158	1	344	0.0029	711	c.85- others(728): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCCTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCC TTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTC CCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCC TCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGC CTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTG CCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTT CCTGCCTTCCTCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCC CCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTCCTCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCC TTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTCCC TTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CPNE4_chr3_131528569_132040014	131978292	T T	TTTATATA others(704): Show TTTATATATATTTATATATATATTTATATATATTTATATTTATATATATA TTTATATATATTTATATTTATATATATATTTTTATATATATTTATATATA TTTATATTTATATATATATTTTTATATATATTTATATATATTTATATTTA TATTTTTATATATATTTATATATATTTATATTTATATATATTTATATATA TATTTATATATATATTTATATATATATATTTATATATATATTTATATATA TATATTTATATATATATTTATATATTTATATATATATATTTTTATATATT TTTATATATATATTTATATATATATATTTATATATATATATTTATATATT TATATATTTATATATATTTATATATATATTTATATATATTTATATATATA TTTATATATATATTTATATATATATTTATATATATTTATATATATATTTA TATATATTTATATATATATTTATATATATTTATATATATATTTATATATA TTTATATATATATATTTATATATATTTATATATATATTTATATATATATA TTTATATATATATTTATATATTTATATATATTTATATATTTATATATATT TATATATATATTTATATATTTATATATATATTTATATATTTATATATATT TATATATATATTTATATATTTATATATATTTATATATATTTATATATATA TTTATATATTTA	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0002 a0001c0001t0007g0002	1	94	0.0106	711	c.-2+ others(728): Show c.-2+56274_-2+56275insTAAATATATAAATATATATATAAATATA TATAAATATATATAAATATATAAATATATATATAAATATATATAAATATA TAAATATATATATAAATATATAAATATATATATAAATATATATAAATATA TAAATATATATAAATATATAAATATATATATAAATATATATATATAAATA TATATATAAATATATATAAATATATATATATAAATATATATAAATATATA TATAAATATATATAAATATATATATAAATATATATAAATATATATATAAA TATATATAAATATATATATAAATATATATATAAATATATATATAAATATA TATAAATATATATATAAATATATATAAATATATAAATATATAAATATATA TATATAAATATATATATATAAATATATATATAAAAATATATAAAAATATA TATATATAAATATATAAATATATATATAAATATATATATATAAATATATA TATAAATATATATATATAAATATATATATAAATATATATATAAATATATA TAAATATAAATATATATAAATATATATAAAAATATAAATATAAATATATA TAAATATATATAAAAATATATATATAAATATAAATATATATAAATATATA TAAAAATATATATATAAATATAAATATATATAAATATATATATAAATATA AATATATATAAATATATATATAAATATATATAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
EHMT1_chr9_137614005_137841127	137716276	G G	GTTGGTGT others(704): Show GTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAG GAAGTTGTGGTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATGGT GGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTC ATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTG TTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGG AAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGT GGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGT GTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTT GTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGG AGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCGTGGTGGG GGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTC ATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG TTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGAGGA AGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTG GGGGAGGAAGTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	170	0.0059	711	c.86- others(724): Show c.86-350_86-349insTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGAGGAAGT TGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGG GAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGG TGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGG TGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGT TGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGG GAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCA TGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGG TGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGT TGTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAG GAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGG TGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGT CATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTT GTGGTGGTGTCATGGTGGGGGAGGAAGTT	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26			chr9	TogoVar
EML1_chr14_99788413_99947060	99927955	A A	AGGTGGTG others(704): Show AGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGA GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTG GTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGATGGTG GTGGTGATGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGT GGTGGTGATGGT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0044 a0003c0002t0001g0044	1	288	0.0035	711	c.190 others(730): Show c.1909+7094_1909+7095insGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGG TGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGT GATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGAT GATGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGAGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928009	T T	TGATGGTG others(704): Show TGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGG TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGG TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGG TGGAGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTG ATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTG ATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0133 a0002c0001t0002g0133	1	288	0.0035	711	c.190 others(730): Show c.1909+7133_1909+7134insATGGTGGTGGTGGTGATGGTGGTGGT GGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGAGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGATGGTGGTGATGGT GGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGT GGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
ENTPD2_chr9_137043107_137059061	137050077	C C	CCAGCCAC others(704): Show CCAGCCACCCGCCTGTCCCTACTCACGACAAAGTCCAGCCACCCGCCTGT CCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACA AAGTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCAC CCGCCTATCCCTACCCACGACAAAGTTCCAGCCACCCGCCTGCCCCTACT CGCGACAAAGTTCCCAGCCCACCCGCCTGCCCCTACTCTCGACAAAGTTC CCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCT GTCCCTACCCACGACAAAGTTCCCAGCCACCGCCTGCCCTACCCACGACA AAGTTCCCAGCCACCTGCCTGCCCCTACCCACGACAAAGTTCCCAGCCAC CCGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTAC TCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACTCACGACAAAGTTC CCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCT GTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCACGA CAAAGTTCCCAGCCACCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCA CCCGCCTGCCCTTACCCACGACAAGTTCCCAGCCACCCGCCTGTCCTACC CACGACAAAGTT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0053 a0003c0007t0001g0053	1	400	0.0025	711	c.103 others(726): Show c.1030-89_1030-88insAACTTTGTCGTGGGTAGGACAGGCGGGTGG CTGGGAACTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCG TGGGTAGGGACAGGCGGTGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGC GGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAAC TTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAG GGACAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGG CTGGGAACTTTGTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTC GTGGGTAGGGGCAGGCAGGTGGCTGGGAACTTTGTCGTGGGTAGGGCAGG CGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAAC TTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGAGAGTAG GGGCAGGCGGGTGGGCTGGGAACTTTGTCGCGAGTAGGGGCAGGCGGGTG GCTGGAACTTTGTCGTGGGTAGGGATAGGCGGGTGGCTGGGAACTTTGTC GTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAG GCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGAC TTTGTCGTGAGTAGGGACAGGCGGGTGGCTG	ENTPD2	ENSG00000054179.12	transcript	ENST00000355097.7	protein_coding	6/8			chr9	TogoVar
FBXO47_chr17_38931432_38972403	38946669	T T	TATATATA others(704): Show TATATATAAATATATAAATATATAAATAAAAATATATAAAAATATATACA TATATAAATATAAATATATAATATATAAATATATAAATATATAAATATAA ATATATAAAAATATATAAATATATAAAAATATATAAATATATAAAAATAT ATAAATATATATAAATATATATAAATATATAAATATATAAATATATATAA ATATATAAATATATAAAAATATATAAATATATAAATATATAAAAATATAT AAATACATAAATATATAAATATATAAATATATATACATAAATATATAAAT ATATAAATATATAAATATATAAATACATAATATATATAAATATAAAATAT ATATAATATATAAAATATATTAAAAATATAAAAATATATATAAAAAATAT ATAAATATATAAAAATATATAAAAAATATATACACATATAAATATATATA AAAATATATAAATATATATAAAAATATATAAATATATATTATATATAAAT ATATAATATATAAATATATATAAATATATAAATATATATAAATATATACA ATATATAAATATATATAAATATATACAATATATAAATATATATAAATATA TACAATATATAAATATATATAAATATATACAATATATAAATATATATAAA TATATATAATATATAAATATATATAAATATATACAATATATAAATATATA TAAATATATATA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	344	0.0029	711	c.617 others(728): Show c.617-1534_617-1533insTATATATATTTATATATATTTATATATT GTATATATTTATATATATTTATATATTATATATATTTATATATATTTATA TATTGTATATATTTATATATATTTATATATTGTATATATTTATATATATT TATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATA TATTTATATATTTATATATATTTATATATTATATATTTATATATAATATA TATTTATATATTTTTATATATATTTATATATTTTTATATATATTTATATG TGTATATATTTTTTATATATTTTTATATATTTATATATTTTTTATATATA TTTTTATATTTTTAATATATTTTATATATTATATATATTTTATATTTATA TATATTATGTATTTATATATTTATATATTTATATATTTATATATTTATGT ATATATATTTATATATTTATATATTTATGTATTTATATATTTTTATATAT TTATATATTTATATATTTTTATATATTTATATATTTATATATATTTATAT ATTTATATATTTATATATATTTATATATATTTATATATTTTTATATATTT ATATATTTTTATATATTTATATATTTTTATATATTTATATTTATATATTT ATATATTTATATATTATATATTTATATTTATATATGTATATATTTTTATA TATTTTTATTTATATATTTATATATTTATATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FLT4_chr5_180596506_180654600	180635711	G G	GTATGGGT others(704): Show GTATGGGTGGATGGGTGGGGTGGGTGGATGCATGGATGGATGGAAGTATG GGTGATGGGTGGGTGGGTGGGTGGATGGATGCATGGATGGATGGAAGTAT GGGTGGATGGGTGGGTGGACGGATGGATGGATGGAAGTATGGGTGGATGG GTGGGTGGGTGGATGCATGGATGGATGGAAGTATGGGTGGATGGGTGGGT GGGTGGGTGGATGGATGCATGGATGCATGGAAGTATGGGTGGATGGGTGG GTGAGTGGGTGGATGGAAGTATGGGTGGATGGGTGGGTGGATGGGTGGAT GGATGCATGTATGGAAGTATGGATGGATGAGTGGATGGGTGGGTGGGTGG ATGCATAGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGGTGGAT GGATGCATGGATGGAAGTAAGGGTGGATGGGTGGATGGGTGGGTGAGTGG GTGGATGCATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGGT GGATGGATGCATGGATGGAAGTAAGGGTGGATGGGTGGATGGGTGGGTGA GTGGGTGGATGCATGGATGGATGGAAGTATGGGTGGATGGGTGGATGGGT GGGTGGGTAGGTGGATGGATGCATGGATTGAAGTATGGGTGGATGGGTGG GTGGGTGGGTGGGTGGATGGATGGATGCATGGATGGAAGTATGGGTCAAT GGGTGGATGGGT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0306 a0001c0001t0002g0306	1	388	0.0026	711	c.59- others(726): Show c.59-3934_59-3933insACCCATCCACCCATTGACCCATACTTCCAT CCATGCATCCATCCATCCACCCACCCACCCACCCACCCATCCACCCATAC TTCAATCCATGCATCCATCCACCTACCCACCCACCCATCCACCCATCCAC CCATACTTCCATCCATCCATGCATCCACCCACTCACCCACCCATCCACCC ATCCACCCTTACTTCCATCCATGCATCCATCCACCCACCCACCCACCCAT CCACCCATACTTCCATCCATCCATGCATCCACCCACTCACCCACCCATCC ACCCATCCACCCTTACTTCCATCCATGCATCCATCCACCCACCCACCCAC CCATCCACCCATACTTCCATCCATCTATGCATCCACCCACCCACCCATCC ACTCATCCATCCATACTTCCATACATGCATCCATCCACCCATCCACCCAC CCATCCACCCATACTTCCATCCACCCACTCACCCACCCATCCACCCATAC TTCCATGCATCCATGCATCCATCCACCCACCCACCCACCCATCCACCCAT ACTTCCATCCATCCATGCATCCACCCACCCACCCATCCACCCATACTTCC ATCCATCCATCCGTCCACCCACCCATCCACCCATACTTCCATCCATCCAT GCATCCATCCACCCACCCACCCACCCATCACCCATACTTCCATCCATCCA TGCATCCACCCACCCCACCCATCCACCCATA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FOXN3_chr14_89151177_89422233	89362424	C C	CACTACCA others(704): Show CACTACCACCTCCAGCACTACCTCCACCACCACCACCTCCAGCACCACCA CCTCCAGCACCACCTCCACCACTACCACCTCCACCACTACCACCTCCACC ACCACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTC CACCACTACCACCTCCAGCACTACCTCCACCACCACCACCTCCAGCACCA CCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACC ACCTCCACCACTACCACCTCCAGCACTACCTCCACCACCACCACCTCCAG CACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCTCCA CCACCACCTCCACCACTACCACCTCCAGCACTACCTCCACCACCACCACC TCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACTAC CTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTA CCACCTCCAGCACTACCTCCACCACCACCACCTCCAGCACCACCTCCACC ACCACCTCCACCACTACCACCTCCAGCACTACCTCCACCACCACCACCTC CAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACTACCT CCACCACTACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACC ACCTCCAGCACT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	230	0.0044	711	c.544 others(730): Show c.544-11617_544-11616insAGTGCTGGAGGTGGTAGTGGTGGAGG TGGTGGTGGAGGTGGTGCTGGAGGTGGTAGTGGTGGAGGTAGTGCTGGAG GTGGTAGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTGGTGGT GGAGGTAGTGCTGGAGGTGGTAGTGGTGGAGGTGGTGGTGGAGGTGGTGC TGGAGGTGGTGGTGGTGGAGGTAGTGCTGGAGGTGGTAGTGGTGGAGGTG GTGGTGGAGGTGGTGCTGGAGGTGGTGGTGGTGGAGGTAGTGCTGGAGGT GGTAGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTGGTGGTGG AGGTAGTGCTGGAGGTGGTAGTGGTGGAGGTGGTGGTGGAGGTGGTGCTG GAGGTGGTAGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTGGT GGTGGAGGTAGTGCTGGAGGTGGTAGTGGTGGAGGTGGTGGTGGAGGTGG TGCTGGAGGTGGTAGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGAGGTG GTGGTGGTGGAGGTAGTGCTGGAGGTGGTAGTGGTGGAGGTGGTGGTGGA GGTGGTGCTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTAG TGGTGGAGGTGGTAGTGGTGGAGGTGGTGCTGGAGGTGGTGGTGCTGGAG GTGGTGGTGGTGGAGGTAGTGCTGGAGGTGGTAGT	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GABRA5_chr15_26862062_26954208	26893414	T T	TTGTGTGT others(704): Show TTGTGTGTGTATGGTGTGGGTATGTAGTGTGTGGTGTGTGTATATTTGTA TGTGTGGCGCGTGTGTGTACAGCGTGTGTGTGCGTGTGTGGTGTATGTGG TGCATATGGTGTATATGTATAGTGTGTGGTGTGTGTGCATAGTTGTGTGT ATATGGTGTGTGGTGTGTGTGTATATGGTGTGTGGTGTGTGTGTATATGG TGTGTTGTGTGTGTATGGTGTGTTGTGTGTATGGTGTGGTGTGTGTGGGG GCTATATGGGGTGTGTGTGTATGCTGTGGTGTATGTGTATGGTGTGTTGT GTGCATGGTGTGTGTATGTAGTGTGGTGTGTGTGTATATGTGTGTGTATG GTGTGTAGCGTGTGTGTATAGTGTGTGTGCATGTGTGGTGTGTGTGGTGC GTGTGTATGATGTGTGTGTATAGTGTGTGGAGTGTGTGTGTATTGTGTGT ATATGGTGTGTGGCGTGTGTGTATAGTGTGTGTGCATGTGTGGTGTGTGT GGTGCGTGTGTATGATGTGTGTGTATAGTGTGTGGAGTGTGTGTGTATTG TTGTGTGTATATGGTGTGTGGCGTGTGTGTATGGTATGTGGTGTGTGTGT ATGGTGTGTGTGTGTGCATGCGGTGTGTATAGTATGTGGCGTGTGTTTAT AGTTGTGTGTATATGGTGTGTGGCGTGTGTGCATAAGGTGTGTGTGTGTG TATAGTACGGTG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0141 a0001c0002t0001g0141	1	376	0.0027	711	c.497 others(728): Show c.497+9874_497+9875insGGTATGTAGTGTGTGGTGTGTGTATATT TGTATGTGTGGCGCGTGTGTGTACAGCGTGTGTGTGCGTGTGTGGTGTAT GTGGTGCATATGGTGTATATGTATAGTGTGTGGTGTGTGTGCATAGTTGT GTGTATATGGTGTGTGGTGTGTGTGTATATGGTGTGTGGTGTGTGTGTAT ATGGTGTGTTGTGTGTGTATGGTGTGTTGTGTGTATGGTGTGGTGTGTGT GGGGGCTATATGGGGTGTGTGTGTATGCTGTGGTGTATGTGTATGGTGTG TTGTGTGCATGGTGTGTGTATGTAGTGTGGTGTGTGTGTATATGTGTGTG TATGGTGTGTAGCGTGTGTGTATAGTGTGTGTGCATGTGTGGTGTGTGTG GTGCGTGTGTATGATGTGTGTGTATAGTGTGTGGAGTGTGTGTGTATTGT GTGTATATGGTGTGTGGCGTGTGTGTATAGTGTGTGTGCATGTGTGGTGT GTGTGGTGCGTGTGTATGATGTGTGTGTATAGTGTGTGGAGTGTGTGTGT ATTGTTGTGTGTATATGGTGTGTGGCGTGTGTGTATGGTATGTGGTGTGT GTGTATGGTGTGTGTGTGTGCATGCGGTGTGTATAGTATGTGGCGTGTGT TTATAGTTGTGTGTATATGGTGTGTGGCGTGTGTGCATAAGGTGTGTGTG TGTGTATAGTACGGTGTGTGTGTGTATGGTGTG	GABRA5	ENSG00000186297.12	transcript	ENST00000335625.10	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRA5_chr15_26862062_26954208	26893414	T T	TTGTGTGT others(704): Show TTGTGTGTGTATGGTGTGGGTATGTAGTGTGTGGTGTGTGTATATTTGTA TGTGTGGCGCGTGTGTGTACAGCGTGTGTGTGCGTGTGTGGTGTATGTGG TGCATATGGTGTATGTGTATAGTGTGTGGTGTGTGTGCATAGTTGTGTGT ATATGGTGTGTGGTGTGTGTGTATATGGTGTGTGGTGTGTGTGTATATGG TGTGTTGTGTGTGTATGGTGTGTTGTGTGTATGGTGTGGTGTGTGTGGGG GCTATATGGGGTGTGTGTGTATGCTGTGGTGTATGTGTATGGTGTGTTGT GTGCATGGTGTGTGTATGTAGTGTGGTGTGTGTGTATATGTGTGTGTATG GTGTGTAGCGTGTGTGTATAGTGTGTGTGCATGTGTGGTGTGTGTGGTGC GTGTGTATGATGTGTGTGTATAGTGTGTGGAGTGTGTGTGTATTGTGTGT ATATGGTGTGTGGCGTGTGTGTATAGTGTGTGTGCATGTGTGGTGTGTGT GGTGCGTGTGTATGATGTGTGTGTATAGTGTGTGGAGTGTGTGTGTATTG TTGTGTGTATATGGTGTGTGGCGTGTGTGTATGGTATGTGGTGTGTGTGT ATGGTGTGTGTGTGTGCATGCGGTGTGTATAGTATGTGGCGTGTGTTTAT AGTTGTGTGTATATGGTGTGTGGCGTGTGTGCATAAGGTGTGTGTGTGTG TATAGTACGGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00738.hp2 HG01069.hp1 others(26): Show HG00408.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01943.hp2 HG01952.hp2 HG01993.hp1 HG02056.hp2 HG02293.hp1 HG02300.hp1 HG02602.hp1 HG02738.hp2 HG02895.hp1 HG03491.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03942.hp2 HG04228.hp1 NA18952.hp2 NA18953.hp2 NA18959.hp1 NA18982.hp1 NA18998.hp1 NA19003.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0008	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0002c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0059 a0001c0001t0001g0177 others(25): Show a0001c0001t0001g0002 a0001c0001t0001g0059 a0001c0001t0001g0177 a0001c0001t0001g0196 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0281 a0001c0001t0001g0340 a0001c0002t0001g0027 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0137 a0001c0002t0001g0142 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0002t0001g0195 a0001c0002t0001g0253 a0001c0002t0001g0273 a0001c0002t0001g0297 a0001c0002t0001g0310 a0001c0002t0001g0332 a0001c0002t0001g0335 a0001c0002t0001g0336 a0001c0002t0001g0337 a0001c0002t0001g0338 a0001c0002t0001g0339 a0001c0005t0001g0280 a0002c0008t0001g0011	29	376	0.0771	711	c.497 others(728): Show c.497+9874_497+9875insGGTATGTAGTGTGTGGTGTGTGTATATT TGTATGTGTGGCGCGTGTGTGTACAGCGTGTGTGTGCGTGTGTGGTGTAT GTGGTGCATATGGTGTATGTGTATAGTGTGTGGTGTGTGTGCATAGTTGT GTGTATATGGTGTGTGGTGTGTGTGTATATGGTGTGTGGTGTGTGTGTAT ATGGTGTGTTGTGTGTGTATGGTGTGTTGTGTGTATGGTGTGGTGTGTGT GGGGGCTATATGGGGTGTGTGTGTATGCTGTGGTGTATGTGTATGGTGTG TTGTGTGCATGGTGTGTGTATGTAGTGTGGTGTGTGTGTATATGTGTGTG TATGGTGTGTAGCGTGTGTGTATAGTGTGTGTGCATGTGTGGTGTGTGTG GTGCGTGTGTATGATGTGTGTGTATAGTGTGTGGAGTGTGTGTGTATTGT GTGTATATGGTGTGTGGCGTGTGTGTATAGTGTGTGTGCATGTGTGGTGT GTGTGGTGCGTGTGTATGATGTGTGTGTATAGTGTGTGGAGTGTGTGTGT ATTGTTGTGTGTATATGGTGTGTGGCGTGTGTGTATGGTATGTGGTGTGT GTGTATGGTGTGTGTGTGTGCATGCGGTGTGTATAGTATGTGGCGTGTGT TTATAGTTGTGTGTATATGGTGTGTGGCGTGTGTGCATAAGGTGTGTGTG TGTGTATAGTACGGTGTGTGTGTGTATGGTGTG	GABRA5	ENSG00000186297.12	transcript	ENST00000335625.10	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRA5_chr15_26862062_26954208	26893414	T T	TTGTGTGT others(704): Show TTGTGTGTGTATGGTGTGTGTATGTAGTGTGTGGTGTGTGTATATTTGTA TGTGTGGCGCGTGTGTGTACAGCGTGTGTGTGCGTGTGTGGTGTATGTGG TGCATATGGTGTATGTGTATAGTGTGTGGTGTGTGTGCATAGTTGTGTGT ATATGGTGTGTGGTGTGTGTGTATATGGTGTGTGGTGTGTGTGTATATGG TGTGTTGTGTGTGTATGGTGTGTTGTGTGTATGGTGTGGTGTGTGTGGGG GCTATATGGGGTGTGTGTGTATGCTGTGGTGTATGTGTATGGTGTGTTGT GTGCATGGTGTGTGTATGTAGTGTGGTGTGTGTGTATATGTGTGTGTATG GTGTGTAGCGTGTGTGTATAGTGTGTGTGCATGTGTGGTGTGTGTGGTGC GTGTGTATGATGTGTGTGTATAGTGTGTGGAGTGTGTGTGTATTGTTGTG TGTATATGGTGTGTGGCGTGTGTGTATAGTGTGTGTGCATGTGTGGTGTG TGTGGTGCGTGTGTATGATGTGTGTGTATAGTGTGTGGAGTGTGTGTGTA TTGTGTGTATATGGTGTGTGGCGTGTGTGTATGGTATGTGGTGTGTGTGT ATGGTGTGTGTGTGTGCATGCGGTGTGTATAGTATGTGGCGTGTGTTTAT AGTTGTGTGTATATGGTGTGTGGCGTGTGTGCATAAGGTGTGTGTGTGTG TATAGTACGGTG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	376	0.0027	711	c.497 others(728): Show c.497+9876_497+9877insTATGTAGTGTGTGGTGTGTGTATATTTG TATGTGTGGCGCGTGTGTGTACAGCGTGTGTGTGCGTGTGTGGTGTATGT GGTGCATATGGTGTATGTGTATAGTGTGTGGTGTGTGTGCATAGTTGTGT GTATATGGTGTGTGGTGTGTGTGTATATGGTGTGTGGTGTGTGTGTATAT GGTGTGTTGTGTGTGTATGGTGTGTTGTGTGTATGGTGTGGTGTGTGTGG GGGCTATATGGGGTGTGTGTGTATGCTGTGGTGTATGTGTATGGTGTGTT GTGTGCATGGTGTGTGTATGTAGTGTGGTGTGTGTGTATATGTGTGTGTA TGGTGTGTAGCGTGTGTGTATAGTGTGTGTGCATGTGTGGTGTGTGTGGT GCGTGTGTATGATGTGTGTGTATAGTGTGTGGAGTGTGTGTGTATTGTTG TGTGTATATGGTGTGTGGCGTGTGTGTATAGTGTGTGTGCATGTGTGGTG TGTGTGGTGCGTGTGTATGATGTGTGTGTATAGTGTGTGGAGTGTGTGTG TATTGTGTGTATATGGTGTGTGGCGTGTGTGTATGGTATGTGGTGTGTGT GTATGGTGTGTGTGTGTGCATGCGGTGTGTATAGTATGTGGCGTGTGTTT ATAGTTGTGTGTATATGGTGTGTGGCGTGTGTGCATAAGGTGTGTGTGTG TGTATAGTACGGTGTGTGTGTGTATGGTGTGTG	GABRA5	ENSG00000186297.12	transcript	ENST00000335625.10	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
GTPBP6_chrX_299759_323796	315827	C C	CACACACA others(704): Show CACACACACACACACTAAATACATCCCGACAGGGACAGACACAGACACAC ACACAGAGACACACACAAACACAGTAAACACATCCCAGCAGGGACACAAA CACATACACACGCAGACACACACACACACACAAACACACAGTAAATACAT CCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGACAC ACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACG CAGACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACAC ACACACACACAGACACATACACAGAGACACACACAAACACAGTAAACACA TCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACA CACACACACTAAATACATCCCGACAGGGACAGACACAGACACACACACAG AGACACACACAAACACAGTAAACACATCCCAGCAGGGACACAAACACATA CACACGCAGACACACACACACACACACAAACAGTAAATACATCCCGACAG GGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACA TCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACA AACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAG AGACACACACAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02970.hp2 HG02486.hp1 HG02970.hp2	a0014 a0015 a0014 a0015	a0014c0023 a0015c0022 a0014c0023 a0015c0022	a0014c0023t0001 a0015c0022t0004 a0014c0023t0001 a0015c0022t0004	a0014c0023t0001g0075 a0015c0022t0004g0103 a0014c0023t0001g0075 a0015c0022t0004g0103	2	155	0.0129	711	c.488 others(726): Show c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT CTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTC TGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGT GTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAC TGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG CTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT CTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTGTGTC TGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGT GTGTGTCTCTGTGTATGTGTCTGTGTGTGTGTGTGTCTGTCCCTGTCGGG ATGTATTTACTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTG TCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCT CTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTT TGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGA TGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCC CTGTCGGGATGTATTTAGTGTGTGTGTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar

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Search Results (Total: 8931 hits)