Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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Results per page.

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
THEG_chr19_356747_381026	360211	T T	TGACAGTC others(825): Show TGACAGTCCCGTGGGCCCTCAGGAGGAGCGTCGGCTGGTTTGACTGTGGC TGTCGTTCCGACTCTGATGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCT GGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGGCTCTCAG GAGGAGCATCAGCTGGTTTGACTGTGGCTGTCGTTCCGACTCTGACGGTC CCGTGGCCCCTCAGCAGGAGCATCAGCTGCTTTGACTGTGGCTGTCGTTC CGACTCTGACGGTCCCGTGGCCCCTCAGCAGGAGCATCAGCTGGTTTGAC TGTGGCTGTCGTTCCGACTCTGACGGTCCCGTGGGCCCTCAGCAGGAGCG TCGGCTGCTTTGACTGTGGCTGTCGTTCCTACTCCGACGGTCCCGTGGCC CCTCAGCAGGAGCGTCGGCTGCTTTGACTGTGGCTGTCGTTCCGACTCCG ACGGTCCCGTGGGCTCTCAGGAGGAGCATCAGCTGGTTTGACTGTGGCTG TCGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCGTTGGCTGC TTTGACTGTGGCTGTCGTTCTGACTCCGACGGTCCCGTGGCCCCTCAGCA GGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCTACTCCGACGGTCCC GTGGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCG ACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCGTTGGCTGCTTTGACTG TGGCTGTCGTTCCGACTCTGACGGTCCCGTGGGCCCTCAGCAGGAGCGTC GGCTGCTTTGACTGTGGCTGTCGTTCCTACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0061 a0003c0012t0061	a0003c0012t0061g0131 a0003c0012t0061g0131	1	370	0.0027	832	c.19 others(843): Show c.1988_*1989insGGAGTAGGAACGACAGCCACAGTCAAAGCAGCCG ACGCTCCTGCTGAGGGCCCACGGGACCGTCAGAGTCGGAACGACAGCCAC AGTCAAAGCAGCCAACGCTCCTGCTGAGGGGCCACGGGACCGTCGGAGTC GGAACGACAGCCACAGTCAAACCAGCCGACGCTCCTGCTGAGGGGCCACG GGACCGTCGGAGTAGGAACGACAGCCACAGTCAAACCAGCCGACGCTCCT GCTGAGGGGCCACGGGACCGTCGGAGTCAGAACGACAGCCACAGTCAAAG CAGCCAACGCTCCTGCTGAGGGGCCACGGGACCGTCGGAGTCGGAACGAC AGCCACAGTCAAACCAGCTGATGCTCCTCCTGAGAGCCCACGGGACCGTC GGAGTCGGAACGACAGCCACAGTCAAAGCAGCCGACGCTCCTGCTGAGGG GCCACGGGACCGTCGGAGTAGGAACGACAGCCACAGTCAAAGCAGCCGAC GCTCCTGCTGAGGGCCCACGGGACCGTCAGAGTCGGAACGACAGCCACAG TCAAACCAGCTGATGCTCCTGCTGAGGGGCCACGGGACCGTCAGAGTCGG AACGACAGCCACAGTCAAAGCAGCTGATGCTCCTGCTGAGGGGCCACGGG ACCGTCAGAGTCGGAACGACAGCCACAGTCAAACCAGCTGATGCTCCTCC TGAGAGCCCACGGGACCGTCGGAGTCGGAACGACAGCCACAGTCAAACCA GCCGACGCTCCTGCTGAGGGGCCACGGGACCATCAGAGTCGGAACGACAG CCACAGTCAAACCAGCCGACGCTCCTCCTGAGGGCCCACGGGACTGTC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1535		chr19	TogoVar
THEG_chr19_356747_381026	361651	G G	GGCTGGTT others(825): Show GGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGGCCC TCAGGAGGAGCGTCAGCTGCTTTGACTGTGGCTGTCGTTCCGACTCCGAC GGTCCCGTGGGCCCTCAGCAGGAGCGTCGGCTGCTTTGACTGTGGCTGTC GTTCCGACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGGTT TGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGCAGG AGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGT GGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGAC TCCGACGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACTGTG GCTGTCGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCGTCGG CTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCCCTC AGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGG TCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGT TCCTACTCCGACGGTCCCGTGGGCCCTCAGGAGGAGCGTCGGCTGGTTTG ACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGCAGGAG CGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGG CCCCTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTC CGACGGTCCCGTGGCCCCTCAGCAGGAGCGTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0020 a0009c0011t0020	a0009c0011t0020g0114 a0009c0011t0020g0114	1	370	0.0027	832	c.54 others(841): Show c.548_*549insTGACGCTCCTGCTGAGGGGCCACGGGACCGTCGGAG TCGGAACGACAGCCACAGTCAAACCAGCCGACGCTCCTGCTGAGGGGCCA CGGGACCGTCGGAGTCGGAACGACAGCCACAGTCAAACCAGCCGACGCTC CTGCTGAGGGGCCACGGGACCGTCGGAGTCGGAACGACAGCCACAGTCAA ACCAGCCGACGCTCCTCCTGAGGGCCCACGGGACCGTCGGAGTAGGAACG ACAGCCACAGTCAAACCAGCCGACGCTCCTGCTGAGGGGCCACGGGACCG TCGGAGTCGGAACGACAGCCACAGTCAAACCAGCCGACGCTCCTGCTGAG GGGCCACGGGACCGTCGGAGTCGGAACGACAGCCACAGTCAAACCAGCCG ACGCTCCTGCTGAGGGGCCACGGGACCGTCGGAGTCGGAACGACAGCCAC AGTCAAACCAGCCGACGCTCCTGCTGAGGGGCCACGGGACCGTCGGAGTC GGAACGACAGCCACAGTCAAACCAGCCGACGCTCCTGCTGAGGGGCCACG GGACCGTCGGAGTCGGAACGACAGCCACAGTCAAACCAGCCGACGCTCCT GCTGAGGGGCCACGGGACCGTCGGAGTCGGAACGACAGCCACAGTCAAAC CAGCCGACGCTCCTGCTGAGGGGCCACGGGACCGTCGGAGTCGGAACGAC AGCCACAGTCAAAGCAGCCGACGCTCCTGCTGAGGGCCCACGGGACCGTC GGAGTCGGAACGACAGCCACAGTCAAAGCAGCTGACGCTCCTCCTGAGGG CCCACGGGACCGTCGGAGTCGGAACGACAGCCACAGTCAAACCAGC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		95		chr19	TogoVar
TMEM120B_chr12_121707752_121787068	121747289	G G	GCTGGGGT others(825): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGTCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0264 a0001c0001t0025g0264	1	314	0.0032	832	c.189 others(849): Show c.189-1024_189-1023insTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGTCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAG AAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TRAPPC12_chr2_3374694_3484565	3437763	C C	CCCCATCA others(825): Show CCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCCA CCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCAC CCCAGGATTAATACCCCATCACCCCAGGATTAATCCCCCAATCACCCCTG GATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTA ATCCCATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCC CATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCAATCA CCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCT GGATTAATCCCCCCATCACCCCTGGATTAATACCCCAATCACCCCTGGAT TAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATC CCATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCAT CACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACCC CTGGATTAATCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGAT TAATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAAT CCCCCCATCACCCCTGGATTAATCCCCCCATCACCCCTGAATTAATCCCC CCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCAT CACCCCTGGATTAATACCCCAATCACCCCTGGATTAATCCCCCCATCACC CCTGGATTAATACCCCATCACCCCTGGATTAAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0327 a0001c0003t0001g0327	1	344	0.0029	832	c.141 others(851): Show c.1418-5996_1418-5995insACCCCATCACCCCTGGATTAATCCCC CCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCAT CACCCCAGGATTAATACCCCATCACCCCAGGATTAATCCCCCAATCACCC CTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGA TTAATCCCATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCC CCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCAA TCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACC CCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCAATCACCCCTG GATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTA ATCCCATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCC CATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCA CCCCTGGATTAATCCCCCATCACCCCTGGATTAATACCCCATCACCCCTG GATTAATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATT AATCCCCCCATCACCCCTGGATTAATCCCCCCATCACCCCTGAATTAATC CCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCC CATCACCCCTGGATTAATACCCCAATCACCCCTGGATTAATCCCCCCATC ACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCATCACCCCTGG ATTAAT	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
U2AF2_chr19_55650035_55679716	55670449	C C	CCCGTGCA others(825): Show CCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTC CCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCG GTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCC GTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCG TGCACCCTGCTGTCCTGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGT GCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTG CACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGC ACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCA CCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCAC CCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCA CCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGCACC CTGCTGTCCGTGCACCCTGCTGTCCCATGCACCCTGCTGTCCGTGCACCC TGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGCACCCTG CTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTG CTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCT GTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTG TCCGTGCACCCTGCTGTCCGTGCACCCTGCTGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02717.hp2 HG02109.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0195 a0001c0001t0001g0162 a0001c0001t0001g0195	2	394	0.0051	832	c.129 others(849): Show c.1293+775_1293+776insGTGCACCCTGCTGTCCGTGCACCCTGCT GTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTG TCGGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGT CCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGT CCGTGCACCCTGCTGTCCTGTGCACCCTGCTGTCCGTGCACCCTGCTGTC CGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCC GTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCG TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCT GCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTG CACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGT GCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGC ACCCTGCTGTCCGTGCACCCTGCTGTCCCATGCACCCTGCTGTCCGTGCA CCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGCACC CTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACC CTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCT GCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTG CTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCT GTCC	U2AF2	ENSG00000063244.14	transcript	ENST00000308924.9	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
U2AF2_chr19_55650035_55679716	55670449	C C	CCCGTGCA others(825): Show CCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTC CCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCG GTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCC GTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCG TGCACCCTGCTGTCCTGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGT GCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTG CACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGC ACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCA CCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCAC CCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCA CCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACC CTGCTGTCCCATGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCC TGCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCT GCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTG CTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCT GTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTG TCCGTGCACCCTGCTGTCCGTGCACCCTGCTGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0197 a0001c0001t0003g0197	1	394	0.0025	832	c.129 others(849): Show c.1293+775_1293+776insGTGCACCCTGCTGTCCGTGCACCCTGCT GTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTG TCGGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGT CCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGT CCGTGCACCCTGCTGTCCTGTGCACCCTGCTGTCCGTGCACCCTGCTGTC CGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCC GTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCG TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCT GCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTG CACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGT GCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGC ACCCTGCTGTCCCATGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCA CCCTGCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCAC CCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACC CTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCT GCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTG CTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCT GTCC	U2AF2	ENSG00000063244.14	transcript	ENST00000308924.9	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
VEGFB_chr11_64229584_64244264	64237126	G G	GAGGGAGA others(825): Show GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGGGAGAGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGAGAGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGG AGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGACAGACAGAGACAGACA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	328	0.0031	832	c.375 others(845): Show c.375-61_375-60insAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGGGAGAGGAGAGGGAGAGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGAGAGGAGAGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGACAGACAGAGACAGACA	VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6			chr11	TogoVar
ACTN2_chr1_236681499_236769631	236756800	T T	AATAGAGT others(826): Show AATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTA ATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAA TAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCGTGGTTAT AGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATA GAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACGCTGGTAATAG AGTATATACTGCAGAGGGCCCGCTGCCACTGTTAGAACCCTGGTAATAGA GTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTTATAGAG TATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGT ATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTA TATACTGCAGAGTGCCTGCTGCCACTGTTAGAACCCTGGTAATAGAGTAT ATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATA TACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATAT ACTGCAGAGTGCCCGCTGCCACTGTTAGAACCGTGGTTATAGAGTATATA CTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATAC TGCAGAGTGCCCGCTGCCACTGTTAGAACGCTGGTAATAGAGTATATACT GCAGAGGGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTG CAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0210 a0001c0001t0003g0210	1	344	0.0029	833	c.215 others(850): Show c.2155-687_2155-686insAATAGAGTATATACTGCAGAGTGCCCGC TGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCT GCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTG CCACTGTTAGAACCGTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGC CACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCC ACTGTTAGAACGCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCA CTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCAC TGTTAGAACCCTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACT GTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTG TTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCTGCTGCCACTGT TAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTT AGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTA GAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAG AACCGTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGA ACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAA CGCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACTGTTAGAAC CCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACC CTGGT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20			chr1	TogoVar
ACTN2_chr1_236681499_236769631	236756923	C C	CGCTGCCA others(826): Show CGCTGCCACTGTTAGAACCGTGGTTATAGAGTATATACTGCAGAGTGCCC GCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCG CTGCCACTGTTAGAACGCTGGTAATAGAGTATATACTGCAGAGGGCCCGC TGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCT GCCACTGTTAGAACCCTGGTTATAGAGTATATACTGCAGAGTGCCCGCTG CCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGC CACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCTGCTGCC ACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCA CTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCAC TGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACT GTTAGAACCGTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACTG TTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGT TAGAACGCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACTGTT AGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTA GAACCCTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAG AACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGA ACCCTGGTAATAGAGTATATACTGCAGAGTGCCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00609.hp2 others(31): Show HG00438.hp1 HG00544.hp1 HG00609.hp2 HG00738.hp1 HG01175.hp1 HG01261.hp1 HG02027.hp2 HG02083.hp1 HG02602.hp1 HG02698.hp1 HG02723.hp1 HG03017.hp2 HG03492.hp1 HG03710.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18950.hp2 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18967.hp2 NA18969.hp2 NA18979.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp2 NA19000.hp2 NA19003.hp1 NA19009.hp1 NA19062.hp2 NA19063.hp2 NA19077.hp1 NA19086.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0001c0016 others(1): Show a0001c0001 a0001c0003 a0001c0016 a0005c0033	a0001c0001t0003 a0001c0003t0003 a0001c0003t0021 others(2): Show a0001c0001t0003 a0001c0003t0003 a0001c0003t0021 a0001c0016t0003 a0005c0033t0003	a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 others(31): Show a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0026 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0104 a0001c0001t0003g0111 a0001c0001t0003g0138 a0001c0001t0003g0140 a0001c0001t0003g0143 a0001c0001t0003g0147 a0001c0001t0003g0153 a0001c0001t0003g0155 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0202 a0001c0001t0003g0207 a0001c0001t0003g0238 a0001c0001t0003g0249 a0001c0001t0003g0266 a0001c0001t0003g0268 a0001c0001t0003g0279 a0001c0001t0003g0284 a0001c0001t0003g0299 a0001c0001t0003g0329 a0001c0001t0003g0336 a0001c0001t0003g0343 a0001c0003t0003g0058 a0001c0003t0021g0125 a0001c0016t0003g0108 a0005c0033t0003g0169	34	344	0.0988	833	c.215 others(850): Show c.2155-545_2155-544insGTGGTTATAGAGTATATACTGCAGAGTG CCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGC CCGCTGCCACTGTTAGAACGCTGGTAATAGAGTATATACTGCAGAGGGCC CGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCC GCTGCCACTGTTAGAACCCTGGTTATAGAGTATATACTGCAGAGTGCCCG CTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGC TGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCTGCT GCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTG CCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGC CACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCC ACTGTTAGAACCGTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCA CTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCAC TGTTAGAACGCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACT GTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTG TTAGAACCCTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGT TAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTT AGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCTGCTGCCACTGTTA GAACC	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATG10_chr5_81967023_82261133	82140344	G G	GGCCAGCC others(826): Show GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGG GAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGA GGTGGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCGGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGAGGGTCAGCCCTCCAC CCGGCCAGCCGCCCGGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTTCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGG AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA18951.hp1 HG02602.hp2 NA18951.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0129 a0002c0002t0002g0128 a0001c0001t0003g0129 a0002c0002t0002g0128	2	226	0.0089	833	c.217 others(852): Show c.217-24023_217-24022insGGTCAGCCCCCCGCCCGGCCAGCCGC CCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGG GTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGG GGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCGGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGAGGGTCAGCCCTCCACCCGGCCAGC CGCCCGGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTTCTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCTGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGG	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG10_chr5_81967023_82261133	82140344	G G	GGCCAGCC others(826): Show GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGG GAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGA GGTGGGGGGGGTCAGTCCTCCGCCCGGCCAGCCGCCCCGTCGGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGAGGGTCAGCCCTCCAC CCGGCCAGCCGCCCGGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTTCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGG AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02886.hp1 HG02897.hp1 others(4): Show HG01256.hp1 HG02886.hp1 HG02897.hp1 HG02976.hp2 HG03209.hp2 HG03453.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0012 a0001c0001t0021	a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0141 others(4): Show a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0003g0130 a0001c0001t0009g0136 a0001c0001t0012g0142 a0001c0001t0021g0145	7	226	0.0310	833	c.217 others(852): Show c.217-24023_217-24022insGGTCAGCCCCCCGCCCGGCCAGCCGC CCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGG GTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGG GGTCAGTCCTCCGCCCGGCCAGCCGCCCCGTCGGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGAGGGTCAGCCCTCCACCCGGCCAGC CGCCCGGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTTCTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCTGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGG	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG10_chr5_81967023_82261133	82140344	G G	GGCCAGCC others(826): Show GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGG GAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGA GGTGGGGGGGGTCAGTCCTCCGCCCGGCCAGCCGCCCCGTCGGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGAGGGTCAGCCCTCCAC CCGGCCAGCCGCCTGGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTTCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGG AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0138 a0001c0001t0023g0138	1	226	0.0044	833	c.217 others(852): Show c.217-24023_217-24022insGGTCAGCCCCCCGCCCGGCCAGCCGC CCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGG GTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGG GGTCAGTCCTCCGCCCGGCCAGCCGCCCCGTCGGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGAGGGTCAGCCCTCCACCCGGCCAGC CGCCTGGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTTCTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCTGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGG	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG10_chr5_81967023_82261133	82140344	G G	GGCCAGCC others(826): Show GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGG GAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGTGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGA GGTGGGGGGGGTCAGTCCTCCGCCCGGCCAGCCGCCCCGTCGGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGAGGGTCAGCCCTCCAC CCGGCCAGCCGCCCGGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTTCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGG AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	226	0.0044	833	c.217 others(852): Show c.217-24023_217-24022insGGTCAGCCCCCCGCCCGGCCAGCCGC CCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGG GTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGT GGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGG GGTCAGTCCTCCGCCCGGCCAGCCGCCCCGTCGGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGAGGGTCAGCCCTCCACCCGGCCAGC CGCCCGGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTTCTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCTGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGG	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG10_chr5_81967023_82261133	82140344	G G	GGCCAGCC others(826): Show GGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGG GAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGA GGTGGGGGGGGTCAGTCCTCCGCCCGGCCAGCCGCCCCGTCGGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGAGGGTCAGCCCTCCAC CCGGCCAGCCGCCCGGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTTCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGG AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	226	0.0044	833	c.217 others(852): Show c.217-24044_217-24043insTGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCATCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCC ATCCGGGAGGGAGGTGGGGGGGGTCAGTCCTCCGCCCGGCCAGCCGCCCC GTCGGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGAGGG TCAGCCCTCCACCCGGCCAGCCGCCCGGTCTGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTTCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGTG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGCCA GCCGCCC	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
BTNL9_chr5_181035266_181066521	181045807	C C	CTCCTCCA others(826): Show CTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAG CCTGTAGTGTTCCTCCACCATCTCCCCAGCCCTCAATACCTCCTCCACCA TCTCCCCAGCCTCCAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGTT CCTCCACCATCTCCCCAGCCTCCAACACCTCCTCCACCATCTCCCCAGCC CCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCAT CTCCCCAGCCTCCAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGTTC CTCCACCATCTCCCCAGCCCTCAATACCTCCTCCACCATCTCCCCAGCCC CCAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGTTCCTCCACCATCT CCCCAGCCTCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCC TCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCTC CAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGTTCCTCCACCATCTC CCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGTTCCTC CACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCCCCA ACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCC CCAGCCTCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTC CACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCCCCA ACACCTCCTCCACCATCTCCCCAGCCTGTAGTGT	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18966.hp1 NA19054.hp1 HG00597.hp1 NA18966.hp1 NA19054.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0124 a0001c0005t0004g0133 a0001c0005t0004g0134 a0001c0005t0004g0124 a0001c0005t0004g0133 a0001c0005t0004g0134	3	390	0.0077	833	c.109 others(848): Show c.109+223_109+224insCCCAGCCCCCAACACCTCCTCCACCATCTC CCCAGCCTGTAGTGTTCCTCCACCATCTCCCCAGCCCTCAATACCTCCTC CACCATCTCCCCAGCCTCCAACACCTCCTCCACCATCTCCCCAGCCTGTA GTGTTCCTCCACCATCTCCCCAGCCTCCAACACCTCCTCCACCATCTCCC CAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCC ACCATCTCCCCAGCCTCCAACACCTCCTCCACCATCTCCCCAGCCTGTAG TGTTCCTCCACCATCTCCCCAGCCCTCAATACCTCCTCCACCATCTCCCC AGCCCCCAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGTTCCTCCAC CATCTCCCCAGCCTCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACA CCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCA GCCTCCAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGTTCCTCCACC ATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGT TCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGC CCCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCA TCTCCCCAGCCTCCAACACCTCCTCCACCATCTCCCCAGCCCCCAACACC TCCTCCACCATCTCCCCAGCCCCCAACACCTCCTCCACCATCTCCCCAGC CCCCAACACCTCCTCCACCATCTCCCCAGCCTGTAGTGTTCCTCCACCAT CTC	BTNL9	ENSG00000165810.17	transcript	ENST00000327705.14	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
C1orf159_chr1_1076823_1121089	1078548	G G	GGGGACTC others(826): Show GGGGACTCCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGAGG CTGAGGCTATGGGGACTCGTGGGGGGAGGCTGAGGCTATGGGGACTCCAT CGGGGGAGGCTGAGGCTAGGGGGACTCCGTCGGGGGAGGCTGAGGCTATG GGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGC TGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGT GCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGAGGCTGAGGCTATGG GGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGCT GAGGCTATGGGGACTCCGTGGCGGAGGCTGAGGCTATGGGGACTCCGTGG CGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGCGGGGTGGCTGTGGCTATGGGGACTCCGTGCCGGGTGGCTG TGGCTATGGGGACTCCGTGCCGAGAGGCTGAGTCTATGGGGACTCCGTGC CGGGAGGCTGAGTCTATGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGG ACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGA GGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGGG GGGACGCTGAGGCTATGGGGACTCCGTGGGGGACGCTGAGGCTATGGGGA CTCCGTGGGGGGAGGCTGAGGCTATGGGACTCCGTGGGGGGAGGCTGAGG CTATGGGGACTCCGTGGGGGGAGGCTGAGTCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0208 a0001c0001t0003g0208	1	326	0.0031	833	c.43 others(844): Show c.4344_*4345insATAGACTCAGCCTCCCCCCACGGAGTCCCCATAG CCTCAGCCTCCCCCCACGGAGTCCCATAGCCTCAGCCTCCCCCCACGGAG TCCCCATAGCCTCAGCGTCCCCCACGGAGTCCCCATAGCCTCAGCGTCCC CCCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAGCC TCAGCCTCCCCCAACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGT CCCCATAGACTCAGCCTCCCGGCACGGAGTCCCATAGACTCAGCCTCCCG GCACGGAGTCCCCATAGACTCAGCCTCTCGGCACGGAGTCCCCATAGCCA CAGCCACCCGGCACGGAGTCCCCATAGCCACAGCCACCCCGCACGGAGTC CCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCG CCACGGAGTCCCCATAGCCTCAGCCTCCGCCACGGAGTCCCCATAGCCTC AGCCACCCCTCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCC CCATAGCCTCAGCCTCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGC ACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCA GCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCAACGGAGTCCC CATAGCCTCAGCCTCCCCCGACGGAGTCCCCCTAGCCTCAGCCTCCCCCG ATGGAGTCCCCATAGCCTCAGCCTCCCCCCACGAGTCCCCATAGCCTCAG CCTCCCGGCACGGAGTCCCCATAGCCTCAGCCACCCCTCACGGAGTCCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3274		chr1	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGAGGG others(826): Show AGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGG AGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAG GGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGG CGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGCGGGAGGGCG GGACGGAGGGACGGAGGGAGGGCGGGACGGAGGGCGGGAGGGAGGGAGGG CGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAG GGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGG ACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGG GAGGGACGGAGGGAGGGAGGGCGGGAGGGCGGGACGGAGGGAGGGCGGGA GGGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACG GAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCG GGACGGAGGGAGGGAGGGCGGGAGGGCGGGACGGAGGGAGGGCGGGAGGG AGGGACGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGAGGGACGGAG GGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGG AGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGG GAGGGAGGGCGGGAGGGCGGGACGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG03490.hp1 HG03492.hp2 HG01358.hp2 HG03490.hp1 HG03492.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	3	410	0.0073	833	c.465 others(848): Show c.465+102_465+103insGCCCTCCCTCCGTCCCGCCCTCCCGCCCTC CCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCG CCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCC GTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCGT CCCTCCCTCCCGCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCCTCCCTCC GTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCTC CCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCGTCCC TCCCTCCCGCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCCTCCCTCCGTC CCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCTCCCT CCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCTCCGTCC CTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCGT CCCGCCCTCCCTCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCC GTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGT CCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCC CGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCG CCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCC CTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCT CCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(826): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTT TGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0211 a0001c0001t0004g0211	1	336	0.0030	833	c.248 others(850): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTG GTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTG CAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(826): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTT TGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	336	0.0030	833	c.248 others(850): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG GTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTG CAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(826): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTT TGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0204	1	336	0.0030	833	c.248 others(850): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG GTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTG CAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(826): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTT TGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0297 a0001c0001t0004g0297	1	336	0.0030	833	c.248 others(850): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG GTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTG CAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
COG3_chr13_45459939_45541701	45485402	G G	GGGGGGGG others(826): Show GGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGG GCGGGGGGCTGACCCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGATGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCA GTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTG GCCGGGGGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCAGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTG GCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCC CCCACCTCCCTCCTGGACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCC CCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0315 a0001c0002t0001g0315	1	342	0.0029	833	c.844 others(850): Show c.844-1087_844-1086insGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCAGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGTGGCTGGCCGGGCAGGG GGGCTGACACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGG GGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCAGA GGGGCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCC CAGACGGGGCGGCTGGCCGGGGGGAGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCC CGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGC GGGGGGCTGACCCCCCCCACCTCCCTCCTGGACGGCACGGCTGGCCGGGC GGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCG GGGGG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(826): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCCG GACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGG GCTGACCCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGCACGGCTGGCCAGGTGGGGGGCTGACCCCCCCCACCTCCCTC CCGGACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCC CGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0190 a0002c0003t0002g0190	1	342	0.0029	833	c.844 others(850): Show c.844-1056_844-1055insCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCCGGACGGG GCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGGCTGAC CCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGCACGGCTGGCCAGGTGGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGA CGGGG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(826): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ATGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGG GGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTC CTGGACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCC CGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0001 a0006c0018t0001	a0006c0018t0001g0309 a0006c0018t0001g0309	1	342	0.0029	833	c.844 others(850): Show c.844-1056_844-1055insCGGCTGGCTGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGGCTGA CCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGAC GGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGA CGGGG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL18A1_chr21_45400165_45518720	45431488	A A	AGGGGGGC others(826): Show AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC CAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGC AGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGG GGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGA CCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAG GGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCG GCGGCCCAGGGGAGGTGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGTGG GCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGG CCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAG GCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCA GGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAG GACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGG AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0082 a0001c0082	a0001c0082t0008 a0001c0082t0008	a0001c0082t0008g0053 a0001c0082t0008g0053	1	292	0.0034	833	c.106 others(852): Show c.106+26020_106+26021insGCAGGCAGGACCCGGCGGCCCAGGGG AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC CAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGC AGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGG GGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGA CCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAG GGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGTGGGCAGGCAGGACCCG GCGGCCCAGGGGAGGTGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGG GCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGG CCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAG GCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCA GGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAG GACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGG AGGGGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
CTU2_chr16_88701503_88720396	88713207	C C	CCGAGAGC others(826): Show CCGAGAGCCCCCTTTCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCC GGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTG ACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACT CATACCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCC CTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCC GGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGA CCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCAC TCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCC TGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATGCCCCCTGAGAGCCCCCTTCCCCGGG CCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCCGGGCCCTGACCCC CACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATG CCCCTGAGAGCCCCCTTCCCCAGGCCCTGACCCCCACTCATACCCCTGAG AGCCCCCTTCCCCGGGCCCTGACCCCCACTCATA	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0129 a0002c0003t0001g0129	1	418	0.0024	833	c.738 others(848): Show c.738-104_738-103insGAGAGCCCCCTTTCCCGGGCCCTGACCCCC ACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATAC CCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCC CGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCCGGGCCCTGA CCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTC ATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCC TGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCC CCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCT GACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATA CCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCCTG AGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCT TCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGG CCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCAGGCCCTGACC CCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCA TAC	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CTU2_chr16_88701503_88720396	88713207	C C	CCGAGAGC others(826): Show CCGAGAGCCCCCTTTCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCC GGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTG ACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACT CATACCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCC CTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCC GGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGA CCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCAC TCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCC TGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATGCCCCCTGAGAGCCCCCTTCCCCGGG CCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCCGGGCCCTGACCCC CACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATG CCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAG AGCCCCCTTCCCCGGGCCCTGACCCCCACTCATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02056.hp2 HG03942.hp2 others(6): Show HG00099.hp1 HG02056.hp2 HG03942.hp2 NA18964.hp1 NA18979.hp1 NA18982.hp2 NA19004.hp1 NA19009.hp1 NA19010.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0011 a0002c0003t0001g0071 a0002c0003t0001g0074 others(3): Show a0002c0003t0001g0011 a0002c0003t0001g0071 a0002c0003t0001g0074 a0002c0003t0001g0111 a0002c0003t0001g0112 a0002c0003t0001g0130	9	418	0.0215	833	c.738 others(848): Show c.738-104_738-103insGAGAGCCCCCTTTCCCGGGCCCTGACCCCC ACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATAC CCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCC CGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCCGGGCCCTGA CCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTC ATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCC TGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCC CCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCT GACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATA CCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCCTG AGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCT TCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGG CCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACC CCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCA TAC	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CUL4A_chr13_113204613_113272108	113263068	C C	CGGATCTG others(826): Show CGGATCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGATCT GCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCGC TTATACGTGCCCTTGCTGATGGCAGATGTCGGGTCTGCCTCGCTTATACG TGTCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGATCTGC CTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTT ATACGTGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTTATACGTG CCCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTTATACGTGCCCTTGC TGATGGCAGATGTCGGATCTGCCTCGCTTATACGTGCCCTTGCTGATGGC AGATGTCGGGTCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTC GGGTCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGGTCTG CCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGGTCTGCCTCGCT TATACGTGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTTATACGT GCCCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTTATACGTGCCCTTG CTGATGGCAGATGTCGGATCTGCCTCGCTTATACGTGCCCTTGCTGATGG CAGATGTCGGATCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGT CGGATCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGGTCT GCCTCGCTTATACGTGCCCTTGCTGATGGCAGAT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	396	0.0025	833	c.218 others(850): Show c.2185-417_2185-416insATCTGCCTCGCTTATACGTGCCCTTGCT GATGGCAGATGTCGGATCTGCCTCGCTTATACGTGCCCTTGCTGATGGCA GATGTCGGATCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCG GGTCTGCCTCGCTTATACGTGTCTGCCTCGCTTATACGTGCCCTTGCTGA TGGCAGATGTCGGATCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGA TGTCGGATCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGA TCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGATCTGCCT CGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTTAT ACGTGCCCTTGCTGATGGCAGATGTCGGGTCTGCCTCGCTTATACGTGCC CTTGCTGATGGCAGATGTCGGGTCTGCCTCGCTTATACGTGCCCTTGCTG ATGGCAGATGTCGGGTCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAG ATGTCGGGTCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGG ATCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGATCTGCC TCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTTA TACGTGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTTATACGTGC CCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTTATACGTGCCCTTGCT GATGGCAGATGTCGGGTCTGCCTCGCTTATACGTGCCCTTGCTGATGGCA GATGG	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
EBF3_chr10_129830233_129969274	129920077	G G	GAGTATCT others(826): Show GAGTATCTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCGGTCTAGGGCG AGTATCTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCGGTCTAGGGCCA GTATCTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCGGTCTAGGGCGAG TATCTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCGGTCTAGGGCGAGT ATCTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCGGTCTAGGGCCAGTA TCTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCAGTCTAGGGCGAGTAT CTCCAGGAGGGCCACAAACCCGCCCCGCTGTGCAGTCTAGGGCCAGTATC TCCAGGAGGGCCACAAACCCGCCCCGCTGTGCAGTCTAGGGCGAGTATCT CCAGGAGGGCCACAAACCCGCCCCGCTGTGCGGTCTAGGGCCAGTATCTC CAGGAGGGCCACAAACCCGCCCCGCTGTGCGGTCTAGGGCGAGTATCTCC AGGAGGGCCACAAACCCGCCCCGCTGTGCGGTCTAGGGCCAGTATCTCCA GGAGGGCCACAAACCCGCCCCGCTGTGCAGTCTAGGGCGAGTATCTCCAG GAGGGCCACAAACCCGCCCCGCTGTGCGGTCTAGGGCCAGTATCTCCAGG AGGGCCACAAACCCGCCCCGCTGTGCAGTCTAGGGCGAGTATCTCCAGGA GGGCCACAAACCCGCCCCGCTGTGCAGTCTAGGGCGAGTATCTCCAGGAG GGCCACAAACCCGCCCCGCTGTGCAGTCTAGGGCGAGTATCTCCAGGAGG GCCACAAACCCGCCCCGCTGTGCGGTCTAGGGCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0003 a0001c0001t0007g0003	1	338	0.0030	833	c.554 others(852): Show c.554+37180_554+37181insGGCCCTAGACCGCACAGCGGGGCGGG TTTGTGGCCCTCCTGGAGATACTCGCCCTAGACTGCACAGCGGGGCGGGT TTGTGGCCCTCCTGGAGATACTCGCCCTAGACTGCACAGCGGGGCGGGTT TGTGGCCCTCCTGGAGATACTCGCCCTAGACTGCACAGCGGGGCGGGTTT GTGGCCCTCCTGGAGATACTGGCCCTAGACCGCACAGCGGGGCGGGTTTG TGGCCCTCCTGGAGATACTCGCCCTAGACTGCACAGCGGGGCGGGTTTGT GGCCCTCCTGGAGATACTGGCCCTAGACCGCACAGCGGGGCGGGTTTGTG GCCCTCCTGGAGATACTCGCCCTAGACCGCACAGCGGGGCGGGTTTGTGG CCCTCCTGGAGATACTGGCCCTAGACCGCACAGCGGGGCGGGTTTGTGGC CCTCCTGGAGATACTCGCCCTAGACTGCACAGCGGGGCGGGTTTGTGGCC CTCCTGGAGATACTGGCCCTAGACTGCACAGCGGGGCGGGTTTGTGGCCC TCCTGGAGATACTCGCCCTAGACTGCACAGCGGGGCGGGTTTGTGGCCCT CCTGGAGATACTGGCCCTAGACCGCACAGCGGGGCGGGTTTGTGGCCCTC CTGGAGATACTCGCCCTAGACCGCACAGCGGGGCGGGTTTGTGGCCCTCC TGGAGATACTCGCCCTAGACCGCACAGCGGGGCGGGTTTGTGGCCCTCCT GGAGATACTGGCCCTAGACCGCACAGCGGGGCGGGTTTGTGGCCCTCCTG GAGATACTCGCCCTAGACCGCACAGCGGGGCGGGTTTGTGGCCCTCCTGG AGATACT	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EHMT1_chr9_137614005_137841127	137716318	T T	TGGGGGAG others(826): Show TGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGG TGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGAGGAAGTT GTGGTGTCATGGTGGGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGAG GAAGTTGTGGTGTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGTCATGGT GGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGT GTCATGGTGGGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGAGGAAGT TGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGG GGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGT CATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGT GGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAG GAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGG TGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGG TGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGAGGAAGTT GTGGTGTCATGGTGGGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGA AGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTG GGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGAGGAAGTTGTGTTGGTGT CATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0130 a0001c0003t0001g0130	1	170	0.0059	833	c.86- others(846): Show c.86-292_86-291insTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGAGGAAGT TGTGGTGTCATGGTGGGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGA GGAAGTTGTGGTGTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGTCATGG TGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGG TGTCATGGTGGGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGAGGAAG TTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGG GGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTG TCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTG TGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGA GGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATG GTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGAGGAAGT TGTGGTGTCATGGTGGGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGG AAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGT GGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGAGGAAGTTGTGTTGGTG TCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGAGGAAGTTGT G	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EML5_chr14_88607431_88797953	88796356	A A	ATATATAT others(826): Show ATATATATATTATATGTTATATATATTATATATATATTATATGTTATATA TTTTATATATATATTATATGTTATATATATTATATATATATTATATGTTA TATATTTTATATATATATTATATGTTATATATATTATATATATTTTATAT ATATATTATGTTTATATATTATATATATTATATATATTATATGTTATATA TATTATATATATTATATATCTTATATGTTATATATATTATATATATATTA TGTTATATATATTATATATATTATGTTATATATAATATATATTATATGTT ATATATGTTATACATATTATATGTTATATGTTATATATATTATATATGTT ATATGTTATATATTATATATATTATGTATATTATATGTTATATATATTAT ATATATTATGTATATTATATGTTTTATATATTATATATTATATATATTAT ATGTTTTATATATTATATATTATATATATTATATGTTATATATATTATAT ATTATATACATTATATGTTATATATATTATATATTATATATATTATATGT TATATATATTATATATTATATATATTATATGTTATATATATTATATATTA TATATATTATATGTTATATATATTATATATTATATATATTATATGTTATA TATATTATATATTATATATATTATATGTTATATATATTATATATTATATA TATTATATGTTATATATATTATATATATTATATATATATTATATGTTATA TATATTATATATATATTATATGTTATATATATTATATATATATTATATGT TATATATATTATATATATATTATATGTTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0024 a0002c0002t0003g0024	1	332	0.0030	833	c.-38 others(844): Show c.-3854_-3853insATATATAACATATAATATATATATAATATATATA ACATATAATATATATATAATATATATAACATATAATATATATATAATATA TATAACATATAATATATATATAATATATATAATATATATAACATATAATA TATATAATATATAATATATATAACATATAATATATATAATATATAATATA TATAACATATAATATATATAATATATAATATATATAACATATAATATATA TAATATATAATATATATAACATATAATATATATAATATATAATATATATA ACATATAATATATATAATATATAATATATATAACATATAATGTATATAAT ATATAATATATATAACATATAATATATATAATATATAATATATAAAACAT ATAATATATATAATATATAATATATAAAACATATAATATACATAATATAT ATAATATATATAACATATAATATACATAATATATATAATATATAACATAT AACATATATAATATATATAACATATAACATATAATATGTATAACATATAT AACATATAATATATATTATATATAACATAATATATATAATATATATAACA TAATATATATATAATATATATAACATATAAGATATATAATATATATAATA TATATAACATATAATATATATAATATATATAATATATAAACATAATATAT ATATAAAATATATATAATATATATAACATATAATATATATATAAAATATA TAACATATAATATATATATAATATATATAACATATAATATATATATAAAA TATATAACATATAATATATATATAATATATATAACATATAATATATATA	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		3404		chr14	TogoVar
GTPBP6_chrX_299759_323796	315827	C C	CACACACA others(826): Show CACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACAC ACACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACA AACACATACACACGCAGACACACACACACACACACAGTAAATACATCCCG ACAGGGACAGACACACACACACAGACACACACACAGAGACACACACAAAC ACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACA CACACACACACACACACACACTAAATACATCCCGACAGGGACAGACACAG ACACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCAGGGA CACAAACACATACACACGCAGACACACACACACACACAAACACACAGTAA ATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAA ACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACA CACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACAC ACACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCC GGCAGGGACACAAACACATACACACGCAGACACACACACACACACACACA CACACTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGAC ACACACAAACACAGTAAACACATCCCAGCAGGGACACAAACACATACACA CGCAGACACACACACACACACACACAAACAGTAAATACATCCCGACAGGG ACAGACACAGACACAGACACAGAGACACACACAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0003 a0006c0011t0003	a0006c0011t0003g0142 a0006c0011t0003g0142	1	155	0.0065	833	c.488 others(848): Show c.488-529_488-528insTTGTGTGTGTCTCTGTGTCTGTGTCTGTGT CTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGTGTGTC TGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGT GTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAG TGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCC TGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGT GTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTG TGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACT GTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGAT GTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTT TGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGT GTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTG TGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTA CTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCC CTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATG TGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGT GTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTG TGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(826): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT ATTATATATTTTATATATAATATATATTTTATATATAATATATATATTTT ATATATAATATATATATAATATATAATATATATATTATATAAAATATATA ATATATATCTTATATATATCATATATTTTATATAATATATATTTTATATA TATCATATATTTTATATATAATATATATTATATATACATTATATAATATA TATTATATTATATATATTATATATTATATAATATATATTATATATTATAC GTAATATATAATGTATATTATATATAATATATTATGTATATAATGTATAT TATATATAATATACATTATATATAATGTATATTATATATAATATACATTA TATATAATGTATATTACATATAATATACATTGTATATAATGTATATATTA CATATAATATACATTGTATATAATGTATATATTACATATAATATACATTG TATATAATGTATATTATATGTAATATATACATTATATACAATGTATATTA TATGTAATATATACATTACATATAATGTATATTATATGTAATATATACAT TACATATAATGTATATTATATGTAATATATACATTACATATAATGTATAT TATATGTAATATATACATTACATAATGTATATTATATGTAATATATACAT TACATAATGTATATTATATGTAATATATACATTATATAATATATACATTG TATATAATGTATATTATATATAATATATACATTGTATATAATGTATATTA TATATAATATATACATTGTATATAATGTATATTA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	350	0.0029	833	c.94- others(846): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATATTATATATTTTATATATAATATATATTTTATA TATAATATATATATTTTATATATAATATATATATAATATATAATATATAT ATTATATAAAATATATAATATATATCTTATATATATCATATATTTTATAT AATATATATTTTATATATATCATATATTTTATATATAATATATATTATAT ATACATTATATAATATATATTATATTATATATATTATATATTATATAATA TATATTATATATTATACGTAATATATAATGTATATTATATATAATATATT ATGTATATAATGTATATTATATATAATATACATTATATATAATGTATATT ATATATAATATACATTATATATAATGTATATTACATATAATATACATTGT ATATAATGTATATATTACATATAATATACATTGTATATAATGTATATATT ACATATAATATACATTGTATATAATGTATATTATATGTAATATATACATT ATATACAATGTATATTATATGTAATATATACATTACATATAATGTATATT ATATGTAATATATACATTACATATAATGTATATTATATGTAATATATACA TTACATATAATGTATATTATATGTAATATATACATTACATAATGTATATT ATATGTAATATATACATTACATAATGTATATTATATGTAATATATACATT ATATAATATATACATTGTATATAATGTATATTATATATAATATATACATT GTATATAATGTATATTATATATAATATATACATTGTATATAATGTATATT A	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
HCN2_chr19_584881_622159	602382	C C	CCCTCCTC others(826): Show CCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCC TCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTC CTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGA CGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTC TCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCC ACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCT CCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCA CTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTC CTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCAC TCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCC TGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACT CCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03579.hp1 HG02965.hp1 HG03579.hp1	a0003 a0003	a0003c0029 a0003c0089 a0003c0029 a0003c0089	a0003c0029t0002 a0003c0089t0003 a0003c0029t0002 a0003c0089t0003	a0003c0029t0002g0103 a0003c0089t0003g0106 a0003c0029t0002g0103 a0003c0089t0003g0106	2	408	0.0049	833	c.633 others(850): Show c.633-1092_633-1091insCTCTCCTGCGTGGACGCCCCACTCCCTC CTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTG GACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTTCCTCCTCTCT CCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTT CCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCT CTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCC TCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCC ACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCT CCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCA CTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTC CTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCAC TCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCC TGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACT TCCTC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
IQSEC3_chr12_61767_183455	163229	C C	CCCCTCCC others(826): Show CCCCTCCCCTCCCCTCCCTCCACAGAACGGGACCCCTCCCCTCCCCTCCC TCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCC TCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCA CAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCC CTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGA ACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCC CCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCG GACCCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCT CCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAC CCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCT CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCAC AGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCC TCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAG	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA19077.hp1 HG03017.hp2 NA19077.hp1	a0001 a0001	a0001c0003 a0001c0037 a0001c0003 a0001c0037	a0001c0003t0011 a0001c0037t0011 a0001c0003t0011 a0001c0037t0011	a0001c0003t0011g0138 a0001c0037t0011g0194 a0001c0003t0011g0138 a0001c0037t0011g0194	2	282	0.0071	833	c.258 others(850): Show c.2584-238_2584-237insGGGACCCCTCCCCTCCCCTCCCTCCACA GAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCT CCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAAC CGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCC TCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGA CCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCC TCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCC CTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCC ACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCC CCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAG AACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTC CCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACC GGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCT CCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAG CCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCT CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAAC	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KDM2B_chr12_121424096_121586023	121514828	C C	CTCCCCAC others(826): Show CTCCCCACACGCCAATCACACTCTCCAATCCCCATCACACTCCCCACCCC CTCTAATCACATTCCCCATCCCTCTAATCACACACCCCATCCCCTCTAAT CACACTCCCCACCCCCAATCACACTCCCCACCCCCCAATCACACTCCCCA CCCCCCAATCACACTACCCACCCCCTCTAATCACACTCCCCACCCCCAAT CACACTCCCCACCCCAATCACACTCCCCATCCCCTCTAATCACACTCCCC ACCCCCAATCACACTCCCCACCCCCAATCACACTCCCCACCCCCTCTAAT CACACTCCCCACCCCCCAATCACACTCCCCACCCCCCAATCACACTCCCC ACCCCCCAATCACACTCCCCACCCCCTCTAATCACACTCCCCACCCCCTC TAATCACACTCCCCACCCCAATCACACTCCCCATCCCCTCTAATCACACT CCCCACCCCCAATCACACTCCCCACCCCCCAATCACACTCCCCACCCCCT CTAATCACACTCCCCACCCCCTCTAATCACACTCCCCACCCCAATCACAC TCCCCACCCCCAATCACACTCCCCACCCCCCAATCACACTCCCCACCCCC TCTAATCACACTCCCCACCCCCTAATCACACTCCCCACCCCAATCACACT CCCCATCCCCTCTAATCACACTCCCCACCCCCAATCACACTCCCCACCCC CAATCACACTCCCCACCCCCTCTAATCACACTCCCCACCCCCTCTAATCA CACTCCCCACCCCCTCTAATCACACTCCCCACCCCCCAATCACACTCCCC ACCCCCCAATCACACTCCCCACCCCCCAATCACA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG02257.hp2 others(11): Show HG00423.hp1 HG00558.hp1 HG02257.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03130.hp1 HG06807.hp2 NA18973.hp1 NA18990.hp2 NA18994.hp1 NA19088.hp1 NA19090.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0040 others(11): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0040 a0001c0001t0002g0069 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0104 a0001c0001t0002g0113 a0001c0001t0002g0122 a0001c0001t0002g0213 a0001c0001t0002g0225 a0001c0001t0002g0236 a0001c0001t0002g0256 a0001c0002t0001g0190	14	270	0.0519	833	c.104 others(852): Show c.1048-1427_1048-1426insTGTGATTGGGGGGTGGGGAGTGTGAT TGGGGGGTGGGGAGTGTGATTGGGGGGTGGGGAGTGTGATTAGAGGGGGT GGGGAGTGTGATTAGAGGGGGTGGGGAGTGTGATTAGAGGGGGTGGGGAG TGTGATTGGGGGTGGGGAGTGTGATTGGGGGTGGGGAGTGTGATTAGAGG GGATGGGGAGTGTGATTGGGGTGGGGAGTGTGATTAGGGGGTGGGGAGTG TGATTAGAGGGGGTGGGGAGTGTGATTGGGGGGTGGGGAGTGTGATTGGG GGTGGGGAGTGTGATTGGGGTGGGGAGTGTGATTAGAGGGGGTGGGGAGT GTGATTAGAGGGGGTGGGGAGTGTGATTGGGGGGTGGGGAGTGTGATTGG GGGTGGGGAGTGTGATTAGAGGGGATGGGGAGTGTGATTGGGGTGGGGAG TGTGATTAGAGGGGGTGGGGAGTGTGATTAGAGGGGGTGGGGAGTGTGAT TGGGGGGTGGGGAGTGTGATTGGGGGGTGGGGAGTGTGATTGGGGGGTGG GGAGTGTGATTAGAGGGGGTGGGGAGTGTGATTGGGGGTGGGGAGTGTGA TTGGGGGTGGGGAGTGTGATTAGAGGGGATGGGGAGTGTGATTGGGGTGG GGAGTGTGATTGGGGGTGGGGAGTGTGATTAGAGGGGGTGGGTAGTGTGA TTGGGGGGTGGGGAGTGTGATTGGGGGGTGGGGAGTGTGATTGGGGGTGG GGAGTGTGATTAGAGGGGATGGGGTGTGTGATTAGAGGGATGGGGAATGT GATTAGAGGGGGTGGGGAGTGTGATGGGGATTGGAGAGTGTGATTGGCGT GTGGGGA	KDM2B	ENSG00000089094.20	transcript	ENST00000377071.9	protein_coding	9/22			chr12	TogoVar
LAMA5_chr20_62304065_62372312	62360517	G G	GGGTGGAG others(826): Show GGGTGGAGGGATAGATGGGTGGGTGGGTAGAAGGATAGGTAGGTGGGTGG GTGGGTGGATGGATAGGTGGATGGGTGGGTGGAGGAATAGATGGGTGGGT GGGTGGGTGGGTGGATGGATAGGTGGGTGGGTGGATGGGTGGGTGGAGGG ATAGATGGGTGGGTGGGTGGGTGGGTGGGTGGATGGATAGGTGGGTGGGT GGGTGGAGGAATAGATGGGTGGGTGGGTGGGTGGGTGGATGGATAGGTGG GTGGGTGGGTGGAGGGATAGATGGGTGGGTGGATGGGTGGGTGGAGGGAT AGATGGGTGGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGG GTGGGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAGATGGGT GGGTGGGTGGGTGGGTGGATGGATAGGTGGATGGGTGGGTGGAGGAATAG ATGGGTGGGTGGGTGGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGT GGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGATGGGTGGGTGGAGGG ATAGATGGGTGGGTGGGTGGGTGGGTGGATGGATAGGTGGGTGGGTGGGT GGAGGAATAGATGGGGGGGTGGGTGGGTGGAGGGATAGATGGGTGGATGG GTGGGTAGAAGGATAGGTAGGTGGGTGGGTGGGTGGATGGGTGGGTGGAG GGATAGATGGGTGGTGGGTGGGTGGAGGGATAGATGGGTGGTGGGTGGGT GGAGGGATAGATGGGTGGATGGGTGGGTAGAAGGATAGGTAGGTGGGTGG GTGGGTGGATGGGTGGGTGGAGGGATAGATGGGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0013 a0013	a0013c0126 a0013c0126	a0013c0126t0001 a0013c0126t0001	a0013c0126t0001g0065 a0013c0126t0001g0065	1	186	0.0054	833	c.450 others(850): Show c.450+1882_450+1883insACCCATCTATCCCTCCACCCACCCATCC ACCCACCCACCCACCTACCTATCCTTCTACCCACCCATCCACCCATCTAT CCCTCCACCCACCCACCACCCATCTATCCCTCCACCCACCCACCACCCAT CTATCCCTCCACCCACCCATCCACCCACCCACCCACCTACCTATCCTTCT ACCCACCCATCCACCCATCTATCCCTCCACCCACCCACCCCCCCATCTAT TCCTCCACCCACCCACCCACCTATCCATCCACCCACCCACCCACCCACCC ATCTATCCCTCCACCCACCCATCCACCCACCCATCTATCCCTCCACCCAC CCATCCACCCACCCATCTATCCCTCCACCCACCCATCCACCCACCCACCC ACCCATCTATTCCTCCACCCACCCATCCACCTATCCATCCACCCACCCAC CCACCCACCCATCTATTCCTCCACCCACCCACCCACCTATCCATCCACCC ACCCACCCACCCACCCACCCATCTATCCCTCCACCCACCCATCCACCCAC CCATCTATCCCTCCACCCACCCATCCACCCACCCATCTATCCCTCCACCC ACCCACCCACCTATCCATCCACCCACCCACCCACCCACCCATCTATTCCT CCACCCACCCACCCACCTATCCATCCACCCACCCACCCACCCACCCACCC ATCTATCCCTCCACCCACCCATCCACCCACCCACCTATCCATCCACCCAC CCACCCACCCACCCATCTATTCCTCCACCCACCCATCCACCTATCCATCC ACCCACCCACCCACCTACCTATCCTTCTACCCACCCACCCATCTATCCCT CCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(826): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCGCCCCCTTCC CCTCCCCTCCCCCGTCCCCTCCCCGCCCCTCCCCCCTCCCCCCTCCCCTC CTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCC CTCCCCTCCCCCCTCCCCTCCTCCCTCCCCCCCTCCCCTCCTCCCTCCCC TCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCCCTT CCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTC CCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCT CCACCCTCCCTTCCCCTCCCTCCCCTCTTCCCCTCCCCTCCCCTCCACCC TCCCTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCC CCTCCCCTTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCCTTCCCCTC CCCCTTCCCCCTCCCCTCCCATTCATCCCCCTTCCCCTTCCTACCCCTCC CCTCCCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCCCTCTGCCCTCCCTT CCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCT TCCCTCCCCCTCCCTTCCCCTCCCTCCCCCCCTCCTCCCCCTCCCTTCCC CTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCC TTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTC CTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0002 a0002c0016t0002	a0002c0016t0002g0112 a0002c0016t0002g0112	1	278	0.0036	833	c.115 others(850): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCGCCCCCT TCCCCTCCCCTCCCCCGTCCCCTCCCCGCCCCTCCCCCCTCCCCCCTCCC CTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCT CCCCTCCCCTCCCCCCTCCCCTCCTCCCTCCCCCCCTCCCCTCCTCCCTC CCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCC CTTCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCC CTCCCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCC CCTCCACCCTCCCTTCCCCTCCCTCCCCTCTTCCCCTCCCCTCCCCTCCA CCCTCCCTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTTCCCTC CCCCCTCCCCTTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCCTTCCC CTCCCCCTTCCCCCTCCCCTCCCATTCATCCCCCTTCCCCTTCCTACCCC TCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCCCTCTGCCCTCC CTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCC CCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCCCCCTCCTCCCCCTCCCTT CCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTC CCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCA CTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCACCCCTCCCCTCCCC TCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(826): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCCCCTTCC CCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTC CTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCC CTCCCCTCCCCCCTCCCCTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCT CCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCCCTTC CCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCC CCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCTCC ACCCTCCCTTCCCCTCCCCTCCCCTCTTCCCCTCCCCTCCCCTCCACCCT CCCTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCCC CTCCCCTTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCCTTCCCCTCC CCCTTCCCCCTCCCCTCCCATTCATCCCCCTTCCCCTTCCTACCCCTCCC CTCCCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTC CCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTT CCCTCCCCCTCCCTTCCCCTCCCTCCCCCCCTCCTCCCCCTCCCTTCCCC TCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCT TCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCC TCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCACC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0218 a0001c0007t0002g0218	1	278	0.0036	833	c.115 others(850): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCCCCT TCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCC CTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCT CCCCTCCCCTCCCCCCTCCCCTCCTCCCTCCCCCCTCCCCTCCTCCCTCC CCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCCC TTCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCC TCCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCC TCCACCCTCCCTTCCCCTCCCCTCCCCTCTTCCCCTCCCCTCCCCTCCAC CCTCCCTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCC CCCCTCCCCTTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCCTTCCCC TCCCCCTTCCCCCTCCCCTCCCATTCATCCCCCTTCCCCTTCCTACCCCT CCCCTCCCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCCCTCTGCCCTCCC TTCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCC CTTCCCTCCCCCTCCCTTCCCCTCCCTCCCCCCCTCCTCCCCCTCCCTTC CCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCC CCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCAC TCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCACCCCCTCCCCTCCCC TCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925244	T T	TCCCCTCC others(826): Show TCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTC CCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCTCCCTCCC CCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCC CCCCTCCCCTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCC CTTCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCCCTTCCCTCCCCCC TCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCC TCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCT TCCCCTCCCCTCCCCTCTTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCC TCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCCCCTCCCCTTC CCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCCTTCCCCTCCCCCTTCCCC CTCCCCTCCCATTCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCT CCCCTCCCCTCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCT CCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCC TCCCTTCCCCTCCCTCCCCCCCTCCTCCCCCTCCCTTCCCCTCCGCTTGC CCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCC ACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCC CTCCCCCTCCCCTCCCCTCCCCACCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0003 a0002c0015t0003	a0002c0015t0003g0169 a0002c0015t0003g0169	1	278	0.0036	833	c.115 others(850): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCCCCT TCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCC CTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCT CCCCTCCCCTCCCCCCTCCCCTCCTCCCTCCCCCCTCCCCTCCTCCCTCC CCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCCC TTCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCC TCCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCC TCCACCCTCCCTTCCCCTCCCCTCCCCTCTTCCCCTCCCCTCCCCTCCAC CCTCCCTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCC CCCCTCCCCTTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCCTTCCCC TCCCCCTTCCCCCTCCCCTCCCATTCATCCCCCTTCCCCTTCCTACCCCT CCCCTCCCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCCCTCTGCCCTCCC TTCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCC CTTCCCTCCCCCTCCCTTCCCCTCCCTCCCCCCCTCCTCCCCCTCCCTTC CCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCC CCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCAC TCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCACCCCTCCCCTCCCCC TCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MSR1_chr8_16102881_16197651	16189618	A A	ATATATAT others(826): Show ATATATATTTGATATATATTTTTTATATATTTTATATATATATAAAATCT TATTTTATATATATTTTATATATATTTTATATATATATAAAATCTTACTT TATATTTTATATATATGAAATCTTACTTTATATATATTTTATATATATAT AAAATCTTACTTTATATATATTTTATATATATAAAATCTTATTTTATATA TATAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTT ATATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATA TATATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATT TTATATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATA TATATATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGA TTTTATATATATATAAAATAAGATTTTATATATATTTTATATATATAAAA TAAGATTTTATATATATATATAAAATAAGATTTTATATATATATATAAAA TAAGATTTTATATATATATATAAAATAAGATTTTATATATATATAAAATA AGATTTTATATATATATAAAATAAGATTTTATATATATATAAAATATATA TAAAATAAGATTTTATATATATATAAAATAAGATTTTATATATATAAAAT ATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTAT TTTATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAA ATCTTATTTTATATATATATAAAATCTTATTTTA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0219 a0002c0002t0002g0219	1	330	0.0030	833	c.-5+ others(848): Show c.-5+2979_-5+2980insTAAAATAAGATTTTATATATATATAAAATA AGATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATA TAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTAT ATATATTTTATATATATAAAATCTTATTTTATATATATATAAAATCTTAT TTTATATATATTTTATATATATATAAAATCTTATTTTATATATATATAAA ATCTTATTTTATATATATATAAAATCTTATTTTATATATATATATAAAAT CTTATTTTATATATATATATAAAATCTTATTTTATATATATATATAAAAT CTTATTTTATATATATAAAATATATATAAAATCTTATTTTATATATATAT AAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTTTATA TATATATAAAATATATATAAAATCTTATTTTATATATATATAAAATATAT ATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTTTA TATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATAT ATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTT TATATATATAAAATAAGATTTTATATATATAAAATATATATAAAGTAAGA TTTTATATATATATAAAATATATATAAAGTAAGATTTCATATATATAAAA TATAAAGTAAGATTTTATATATATATAAAATATATATAAAATATATATAA AATAAGATTTTATATATATATAAAATATATAAAAAATATATATCAAATAT ATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
NOTCH1_chr9_136489433_136551048	136528413	A A	GGTGCGGG others(826): Show GGTGCGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGG TGAGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGG GGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGGAT GGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGCAGGGAC AGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGG ATGGGCAGGGACCGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGC AGGGACAGTGGGGGGGATGGGCAAGGACAGTGGGGGGTGGGCAGGGACAG TGGGGGGCGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGG GGGATGGGCAAGGACAGTGGGGCGATGGGCAGGGACAGTGGGGGGGATGG GCAGGGACAGTGCGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGC AGGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAGGGGGATGGGCAGGG ACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGG GGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATG GGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGCGATGGGCAGGG ACAGTGGGGGGGGATGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACAG TGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGT GGGCAGGGACAGTAGGGGGGGATGGGCAGGGACA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	324	0.0031	833	c.141 others(850): Show c.141-4434_141-4433insGTCCCTGCCCATCCCCCCCTACTGTCCC TGCCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCC CCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCATCCCCCCCC ACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGCCCACCCCCCACTGTCC CTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCC ATCCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCACCCCCC ACTGTCCCTGCCCATCCCCCTCACCGTCCCTGCCCATCCCCCCCTCACCG TCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCCCGCACTGTC CCTGCCCATCCCCCCCACTGTCCCTGCCCATCGCCCCACTGTCCTTGCCC ATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCGCC CCCCACTGTCCCTGCCCACCCCCCACTGTCCTTGCCCATCCCCCCCACTG TCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACGGTCCCTG CCCATCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCC CCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCC TGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCA TCCCCCCCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCC CCTCACCGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCCC GCACC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(826): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGAGGGGGAGGGGAAGGGGGAGGGG AAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAA GGGGGAGGGAAAGGGGGAGGGGAAGGGGGAGGGGAGGGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGG AGGGGGAGGGGGAGGGGAGGAGTGGGGAGGGGAGGAGGGGAGAAGGGGAG GGAGGAGGGAGGAGGGGGAGGGAGGAGGGGAGGGGAGGAGGGGAGGGAGG AGGGGAGGGGAGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAG GGGAGGGGAGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGG AGGGGGAGGGGAGGAGGGGGAGGGAGGAGGGGGAGGGGAGGGGGGAGAGG GGAGGGGAAGGGGGAGGGGAGGGGAGAGGGGAGGAGGAGGGGAGGAGGGG AGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGGAGGGGAGGA AAGGAAGGGAGGGAAGGGGGAGGGGGAGGAGTGGAGAGGAGGATGAGGGG AGGGGAGGGGAGGAGTGGAGAGGAGGGTAAGGGAAGGAAGCAGAGGAGGG AGGAGTGGAGAGGAGGGGAAGGGAGGGGAGGGGTGCGGGAGGGGAGGGGT GCGGGAGGGGAGGGTAAGGGAAGGGAGGGGAGGGTGGGGGAGGGGAGGGA AGAGGAGTGGAGAGGAGGAGAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0194 a0001c0004t0001g0194	1	208	0.0048	833	c.279 others(848): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCTTCCCCTCCTCTCCAC TCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTCCCCTC CCCTCCCCTCATCCTCCTCTCCACTCCTCCCCCTCCCCCTTCCCTCCCTT CCTTTCCTCCCCTCCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCTCCTCCCCTCTCCCCTCCCCTCCCCCTTCCC CTCCCCTCTCCCCCCTCCCCTCCCCCTCCTCCCTCCCCCTCCTCCCCTCC CCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCTCCCC TCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTC CCCTCCTCCCTCCCCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCTC CTCCCTCCCCTTCTCCCCTCCTCCCCTCCCCACTCCTCCCCTCCCCCTCC CCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTTCCCCTCCCCCTTTCCCTC CCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCC CCTTCCCCTCCCCCTTCCCCTCCCCCTCCCTCCCCTTCCCACCCCTCCCT TCTCCTTCCCCCTCCCCTTCCCTCCCTTCCCTTCTCCCCCCTCCCCTCTC TTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCTCCTCT others(826): Show TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCACCCTCCCC CCCTCCCCTTCCCCTTCCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTC CTCTCCTCTCCCACCCTCCCCCCCTCCCCTTCCCCTTCCCCTCCCCTCCC CCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTT CCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCC CTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	326	0.0031	833	c.433 others(850): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAGAGGG AAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGG GGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGAGGGGGGGAGGGTGGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGGAAGGGGAAGG GGAGGGGGGGAGGGTGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
OGDHL_chr10_49729641_49767323	49742423	C C	CACACCAC others(826): Show CACACCACACACACCATACACACATACACACCACACACATACACACTCCA CACACACCACACATATATCACACACACCACATACACACTCCACACACACC ACACATACATCACACACACCATACACCACACACACACCACACACTACACA CCACACCCACCCACGCATACCACACATATCCCCTTACATACCACACACAT CCCCTACACACACGCCACATACACACACCATACACATCCCCCACAGACAC ACATACCCCTACATACCACACACATCCCCTACACACATGCCATACACACA CCATACACATCCCCCACAGACACACATACACACCACACACATACACAAAC ACTGCACACATACACACCCCACACATACAACACACACGACACACCACACA CATACACAAACACTGCACACATACACACCCCACACATACAACACACACGA CACACCACACAACCATACAGACACAAACACATACACCACACACACCACAT ACACAACAAACATGCCACACACAAATACCACACACACCACATACACACAC CCCCCCATTCACCACACACCACATACACACCATTCACACTACACATACAC TCCACACACACACCACATACGCACCATACACACCACACATATCTCCACAC ACACACCACATACATACACATCCCATCCACACCACACACCCACACACACA CACTCCAAACTCCACACACATACTCCAAACACCACACAAATACACCTACA CACACATCACACACCCACACCACACACACACCACACAAACATGCCACACA CATACCCCACACCATACACACACACACACCAAAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp2 HG01069.hp2 others(13): Show HG00642.hp2 HG00741.hp2 HG01069.hp2 HG01243.hp2 HG01516.hp2 HG02258.hp2 HG02572.hp2 HG02723.hp2 HG02735.hp1 HG02922.hp2 HG03486.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp1 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0005 a0001c0004t0003 a0001c0004t0005	a0001c0004t0003g0025 a0001c0004t0003g0043 a0001c0004t0003g0044 others(10): Show a0001c0004t0003g0025 a0001c0004t0003g0043 a0001c0004t0003g0044 a0001c0004t0003g0046 a0001c0004t0003g0078 a0001c0004t0003g0080 a0001c0004t0003g0081 a0001c0004t0003g0149 a0001c0004t0003g0164 a0001c0004t0003g0198 a0001c0004t0003g0199 a0001c0004t0003g0200 a0001c0004t0005g0079	16	316	0.0506	833	c.201 others(850): Show c.2012+404_2012+405insATTTGGTGTGTGTGTGTGTATGGTGTGG GGTATGTGTGTGGCATGTTTGTGTGGTGTGTGTGTGGTGTGGGTGTGTGA TGTGTGTGTAGGTGTATTTGTGTGGTGTTTGGAGTATGTGTGTGGAGTTT GGAGTGTGTGTGTGTGGGTGTGTGGTGTGGATGGGATGTGTATGTATGTG GTGTGTGTGTGGAGATATGTGTGGTGTGTATGGTGCGTATGTGGTGTGTG TGTGGAGTGTATGTGTAGTGTGAATGGTGTGTATGTGGTGTGTGGTGAAT GGGGGGGTGTGTGTATGTGGTGTGTGTGGTATTTGTGTGTGGCATGTTTG TTGTGTATGTGGTGTGTGTGGTGTATGTGTTTGTGTCTGTATGGTTGTGT GGTGTGTCGTGTGTGTTGTATGTGTGGGGTGTGTATGTGTGCAGTGTTTG TGTATGTGTGTGGTGTGTCGTGTGTGTTGTATGTGTGGGGTGTGTATGTG TGCAGTGTTTGTGTATGTGTGTGGTGTGTATGTGTGTCTGTGGGGGATGT GTATGGTGTGTGTATGGCATGTGTGTAGGGGATGTGTGTGGTATGTAGGG GTATGTGTGTCTGTGGGGGATGTGTATGGTGTGTGTATGTGGCGTGTGTG TAGGGGATGTGTGTGGTATGTAAGGGGATATGTGTGGTATGCGTGGGTGG GTGTGGTGTGTAGTGTGTGGTGTGTGTGTGGTGTATGGTGTGTGTGATGT ATGTGTGGTGTGTGTGGAGTGTGTATGTGGTGTGTGTGATATATGTGTGG TGTGTGTGGAGTGTGTATGTGTGTGGTGTGTATGTGTGTATGGTGTGTGT GGTGT	OGDHL	ENSG00000197444.10	transcript	ENST00000374103.9	protein_coding	15/22			chr10	TogoVar
PDXK_chr21_43714129_43767299	43741407	G G	GGGGGGCT others(826): Show GGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGGCTCGCGGGGG GCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGC GGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGG CTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGCCTCG CGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCT CGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTGGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGG CTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGC GGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGG CTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGGCTCG CGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCAGGG GGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCAGGGGGGCT CGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGG GGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGG CTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGC GGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	358	0.0028	833	c.143 others(848): Show c.143-255_143-254insCTCGCGGGGGGCTGGCGGGGGGCTGGCGGG GGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCT GGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGG GGGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGC TGGCGGGGGCCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGC GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGG GCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCG CGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTGGCGGGGG GGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCT CGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGGCT CGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCG GGGGGCTCGCAGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGG CTCGCAGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCG CGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGG GGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCT GGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGG GGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PIEZO1_chr16_88710338_88790220	88713207	C C	CCGAGAGC others(826): Show CCGAGAGCCCCCTTTCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCC GGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTG ACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACT CATACCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCC CTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCC GGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGA CCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCAC TCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCC TGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATGCCCCCTGAGAGCCCCCTTCCCCGGG CCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCCGGGCCCTGACCCC CACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATG CCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAG AGCCCCCTTCCCCGGGCCCTGACCCCCACTCATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG02056.hp1 HG03942.hp2 others(2): Show HG00099.hp1 HG02056.hp1 HG03942.hp2 NA19004.hp1 NA19010.hp1	a0028 a0030 a0060 others(1): Show a0028 a0030 a0060 a0081	a0028c0032 a0030c0058 a0030c0122 others(2): Show a0028c0032 a0030c0058 a0030c0122 a0060c0099 a0081c0115	a0028c0032t0001 a0030c0058t0001 a0030c0122t0001 others(2): Show a0028c0032t0001 a0030c0058t0001 a0030c0122t0001 a0060c0099t0001 a0081c0115t0001	a0028c0032t0001g0238 a0030c0058t0001g0058 a0030c0122t0001g0171 others(2): Show a0028c0032t0001g0238 a0030c0058t0001g0058 a0030c0122t0001g0171 a0060c0099t0001g0242 a0081c0115t0001g0172	5	282	0.0177	833	c.23 others(844): Show c.2397_*2398insTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCT CTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGG CATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGTATGAGTG GGGGTCAGGGCCCGGGGAAGGGGGCTCTCGGGTATGAGTGGGGGTCAGGG CCCGGGGAAGGGGGCTCTCAGGGGGCATGAGTGGGGGTCAGGGCCCGGGG AAGGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGG GCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCA GGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGA GTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGTATGAGTGGGGG TCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCC GGGGAAGGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAG GGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCT CTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCGGGTATG AGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGT CAGGGCCCGGGGAAGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCC GGGGAAGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGG GCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGAAAGGGGGCTCTCG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		2130		chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(826): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGAGGGAGAGAGTGTGGAGAG GGGGGAGAGAAGGGGAGGGGGAGACAAGGGGAGAGAAGGGGAGGGGGAGA GGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGGGAGGGGGAGAGAG GGGGAGAGAAAGGGAGAGGGGGAGAGGGGGAGAGAGGGGAGAGAAGGGGA GAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGA GGGGGAGAGGGGGAGAGGTGGGGAGGGGAGAGGGGGAGAGGTGGAGGAGG GGGAGGAGGGGGAGGAGGGGGAGGAGGGAGGAGGGGGAGGAGGGGGAGGA GGGGGGAGAGGGGAGGAGGGGGAGGAGGGGGAGGGGGAGAGGGGGAGAGG GGGAGGAAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGA GGGGAGGAGGGGGAGAGGGGGAAGTGGGAAGGGGCAAGAGAGAGGGCGAG AGAGAGGGCGGGTGAGAGAGGGCGAGTGAGAGAGAGAGGGCGAGTGAGAG AGAGAGGGCAGGTGAGAGAGAGGGCGAGAGAAAGAGAGGGTGGGCAAGAG AGAGGGCGAGGGGCGAGAGAGAGAGAGGGCGAGAGAGAGGCGGGCGAGAG AGAGGGCAGGCGAGAGAGAGGGCGGGTGAGAGAGAGAGAGGGTGGGCAAG AGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAGAGAG AGAGAGAGAGGGCGAGAGGGAGAGAGAGGGAGAGGGCGAGAGGGAGAGAG AGGGAGAGAAAGAGGGAGAGAAAGAGGGAGAGAA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0007 a0008c0008t0001g0007	1	308	0.0033	833	c.371 others(850): Show c.3718+654_3718+655insTTCTCTCCCTCTTTCTCTCCCTCTTTCT CTCCCTCTCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCCTCT CTCTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCT CTCTCTCTTGCCCACCCTCTCTCTCTCTCACCCGCCCTCTCTCTCGCCTG CCCTCTCTCTCGCCCGCCTCTCTCTCGCCCTCTCTCTCTCTCGCCCCTCG CCCTCTCTCTTGCCCACCCTCTCTTTCTCTCGCCCTCTCTCTCACCTGCC CTCTCTCTCTCACTCGCCCTCTCTCTCTCACTCGCCCTCTCTCACCCGCC CTCTCTCTCGCCCTCTCTCTTGCCCCTTCCCACTTCCCCCTCTCCCCCTC CTCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTT CCTCCCCCTCTCCCCCTCTCCCCCTCCCCCTCCTCCCCCTCCTCCCCTCT CCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCTCCTCCCCCTCCTCCCCCT CCTCCCCCTCCTCCACCTCTCCCCCTCTCCCCTCCCCACCTCTCCCCCTC TCCCCCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCC CTTCTCTCCCCTTCTCTCCCCTCTCTCCCCCTCTCCCCCTCTCCCTTTCT CTCCCCCTCTCTCCCCCTCCCCTCTCTCCCCCTCTCCCCCTCCCCTTCTC TCCCCCTCTCCCCCTCCCCTTCTCTCCCCTTGTCTCCCCCTCCCCTTCTC TCCCCCCTCTCCACACTCTCTCCCTCCCCTTCTCTCCCCATCCCCTTCTC TCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PRDM16_chr1_3064203_3443621	3260742	A A	ATGATGGT others(826): Show ATGATGGTGATGATAATGATAGTGATGGTGATGATGATGGTGGTGGTGAT GGTGATGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGG TGATGATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGATGGTGGTG ATGATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGGTGATGGT GGTGGTGATGATGGTGATGGTGATGATGATGGTGGTGGTGATGATGGTGG TGGTGATGATGGTGATGGTGGTGATGGTGATGGTGGTGATGATGGTGATG GTGATAATGATAGTGGTGATGATGGTGATGGTGGTGATGATGGTGATAAT GATAGTGGTGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGGTGG TGGTGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGATGGTGGTG ATGATGGTGATGGTGATGATGATGGTGATGGTGGTGGTGGTGATGGTGAT GATAATGATAGTGGTGATGATGGTGATGGTGATGATGGTGTTGGTGATGG TGATGGTGGTGGTGGTGATGGTGGTGGTGATGATGGTGATGGTGAAGGTG TTGATGGTGATGGTGGTGGTGATGATGATGGTGGTGATGATGGTGATGGT GGTGATGATGATGGTGATGATGGTGATGGTGATGATGGTGATGATAGTGG TGATGATGGTGATGATGATAGTGATGATGATGGTGATGATGGTGATGGCG GCGATGATGGTGATGATGATGGTGATGGTTGTGATGATGTTGGTGATGGT GGTGATGATGATGGCATGATGGCAGTGATTCAAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0204 a0001c0001t0056g0204	1	210	0.0048	833	c.438 others(852): Show c.438+16610_438+16611insGTGATGATAATGATAGTGATGGTGAT GATGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGATGGTGA TGGTGATGATGGTGGTGGTGATGATGGTGGTGGTGATGATGGTGATGGTG ATGATGGTGATGGTGGTGATGATGGTGGTGGTGATGATGGTGATGGTGAT GATGGTGGTGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGATGG TGGTGGTGATGATGGTGGTGGTGATGATGGTGATGGTGGTGATGGTGATG GTGGTGATGATGGTGATGGTGATAATGATAGTGGTGATGATGGTGATGGT GGTGATGATGGTGATAATGATAGTGGTGATGGTGGTGATGATGGTGATGG TGATGATGGTGATGGTGGTGGTGATGGTGGTGATGATGGTGATGGTGATG ATGATGGTGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGATGGT GGTGGTGGTGATGGTGATGATAATGATAGTGGTGATGATGGTGATGGTGA TGATGGTGTTGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGGTGATG ATGGTGATGGTGAAGGTGTTGATGGTGATGGTGGTGGTGATGATGATGGT GGTGATGATGGTGATGGTGGTGATGATGATGGTGATGATGGTGATGGTGA TGATGGTGATGATAGTGGTGATGATGGTGATGATGATAGTGATGATGATG GTGATGATGGTGATGGCGGCGATGATGGTGATGATGATGGTGATGGTTGT GATGATGTTGGTGATGGTGGTGATGATGATGGCATGATGGCAGTGATTCA AGTGATG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PXMP2_chr12_132682587_132709985	132692521	T T	TAGCCAGT others(826): Show TAGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCGCCCTT AGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTACTTAGTGAGCGCCCTGA GCCAGTTAGGTAGTGAGCTCCCTGAGCCAGTTAGGTAGTGAGCTCCCTGA GCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCGCCCTTGC CAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTTAGTGAGCTCCCTTAGC CAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTTAGTGAGCGCCCTTAGC CAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCGCCCTTGCCA GTTAGTTAAGTGAGCGCCCTTAGCCAGTTAGTTAGTGAGCTCCCTTAGCC AGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAG TTAGTGAGCGCCCTTGCCAGTTAGTGAGCTCCCTTAGCCAGTTAGTTAGT GAGCTCCCTTAGCCAGTTAGTGAGCGCCCTTGCCAGTTAGTTAAGTGAGC GCCCTTAGCCAGTTAGTTAGTGAGCGCCCTTAGCCAGTTAGTTAGCGCCC TTGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTT AGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTGAGCTCCCTTGCCA GTTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGTCAG TTAGTGAGCGCCCTTGCCAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTG AGCGCCCTTGCCAGTTAGTTAGTGAGCTCCCTTA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0041 a0001c0003t0003g0041	2	350	0.0057	833	c.236 others(850): Show c.236+2145_236+2146insAGCCAGTTAGTTAGTGAGCGCCCTTGCC AGTTAGTTAGTGAGCGCCCTTAGCCAGTTAGTTAGTGAGCGCCCTTGCCA GTTACTTAGTGAGCGCCCTGAGCCAGTTAGGTAGTGAGCTCCCTGAGCCA GTTAGGTAGTGAGCTCCCTGAGCCAGTTAGTTAGTGAGCGCCCTTGCCAG TTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGT TAGTTAGTGAGCTCCCTTAGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGT TAGTTAGTGAGCGCCCTTAGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTT AGTTAGTGAGCGCCCTTGCCAGTTAGTTAAGTGAGCGCCCTTAGCCAGTT AGTTAGTGAGCTCCCTTAGCCAGTTAGTGAGCGCCCTTGCCAGTTAGTTA GTGAGCTCCCTTGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTGAGC TCCCTTAGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTGAGCGCCC TTGCCAGTTAGTTAAGTGAGCGCCCTTAGCCAGTTAGTTAGTGAGCGCCC TTAGCCAGTTAGTTAGCGCCCTTGCCAGTTAGTTAGTGAGCTCCCTTGCC AGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTTAGTGAGCTCCCTTAGCC AGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAG TTAGTGAGCTCCCTTAGTCAGTTAGTGAGCGCCCTTGCCAGTTAGTGAGC GCCCTTGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCTC CCTTA	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4			chr12	TogoVar

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