Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
STT3A_chr11_125587852_125628091	125589067	A A	AAGAACTA others(2024): Show AAGAACTATGTCTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTAAT TTATTTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGG CAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAA CAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTG TTTGTGTCCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGA GCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCT TAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGG GTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGACAGAGGAATTTTT CTTAGTGCAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACAC AGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCGCCTTTCCCGCCT TTCTATTCCACAAGGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCT GTTGGGCACACCTCCCAGACGGGGTGGTGGCTGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGGCTGACCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACACCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCCACTGGCCGGGCAGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGAGGCGGCTGGCCGGTCGTGGGGCTGACA CCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGATGGGGCGGCTGGTCGGGCGGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCTCCCCACATCTCAGACGATG GGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCGGCTGGG AAGAGGTGCTCCTCACTTCCTAGATGGGATGGCGGCCGGGCGGAGACGCT CCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAG ACGATGGGCGGCCAGGCAGAGACACTCCTCACTTCCCAGACGGGGGTGGC GGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCCAAGGCAGGCGG CTGGGAGGTGTAGGTTGTAGTGAGCCGAGATCACGCCACTGCACTCCAGC CTGGGCACCATTGAGCACTGAGTGAACGAGACTCCGTCTGCAATCCCGGC ACCTCGGGAGGCCGAGGTTGGCGGATCACTCGCGGTTAGGGGCTGGAGAC CGGCCCGGCCAACACAGCGAAACCCTGTCTCCACCAAAACCAGTCAGGCG TGGCGGCGCGTGCCTGCAATCGCAGGCACTCGGCAGACTGAGGCAGGAGA ATCAGGCAGGGAGGATGCAGTGAGCCGAGATGGCAGCAGTACAGTCCAGC TTCGGCTCCGCATGAGAGGGAGACCGTGGGGAGAGGGAGAGCGAGAGGGA GACGGAGAGCGAGAGGGAGACGGAGAGCGAGAGGGAGACGGAGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGAGAGGGGGAGGGAGAGGGAGAGGGCTGAGGTGTGTTTTTAAAAG GATGTTAGCTTTTAATTAAGCTGACTTTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0037 a0001c0002t0037	a0001c0002t0037g0093 a0001c0002t0037g0093	1	360	0.0028	2031	c.-38 others(2042): Show c.-3887_-3886insAGAACTATGTCTTTTTTTTTTTTTTTTTTTTTTT ATTTTTTTTTTTAATTTATTTTTTTATTGATAATTCTTGGGTGTTTCTCA CAGAGGGGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGC AGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTG CGGCCTTCCGCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGATTGGT GATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCAC ATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGT TTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAA GACAGAGGAATTTTTCTTAGTGCAGAACAAAATGAAAAGTCTCCCATGTC TACTTCTTTCTACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCC CCGCCTTTCCCGCCTTTCTATTCCACAAGGCCGCCATTGTCATCCTGGCC CGTTCTCAATGAGCTGTTGGGCACACCTCCCAGACGGGGTGGTGGCTGGG CAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGG CTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG GCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCACTGGCCG GGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGAGGCGGCTGGCCG GTCGTGGGGCTGACACCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGTCGGG CGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCTCCCC ACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGAT GTGATGGCGGCTGGGAAGAGGTGCTCCTCACTTCCTAGATGGGATGGCGG CCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGG CTCCTCACATCCCAGACGATGGGCGGCCAGGCAGAGACACTCCTCACTTC CCAGACGGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGA GGCCAAGGCAGGCGGCTGGGAGGTGTAGGTTGTAGTGAGCCGAGATCACG CCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAACGAGACTCC GTCTGCAATCCCGGCACCTCGGGAGGCCGAGGTTGGCGGATCACTCGCGG TTAGGGGCTGGAGACCGGCCCGGCCAACACAGCGAAACCCTGTCTCCACC AAAACCAGTCAGGCGTGGCGGCGCGTGCCTGCAATCGCAGGCACTCGGCA GACTGAGGCAGGAGAATCAGGCAGGGAGGATGCAGTGAGCCGAGATGGCA GCAGTACAGTCCAGCTTCGGCTCCGCATGAGAGGGAGACCGTGGGGAGAG GGAGAGCGAGAGGGAGACGGAGAGCGAGAGGGAGACGGAGAGCGAGAGGG AGACGGAGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGCTGAG GTGTGTTTTTAAAAGGATGTTAGCTTTTAATTAAGCTGACTTTTTTC	STT3A	ENSG00000134910.14	transcript	ENST00000392708.9	protein_coding		3784		chr11	TogoVar
ADGRE2_chr19_14727392_14783560	14763752	T T	TCTCCTCT others(2025): Show TCTCCTCTCCTCCTCCTCCTCTTGTCCACCACCTCCTCCTCTCCTCCTCC TCTTCTGCTCCTCTTCCTCCTCTCCTCCTCCTCTCCACCTCCTCCTCTCC TCCTTGTCTCCTCCTCTCTTCCTCTCCTCGTCCTCTCCTCCTCCTCTCCT CTTCCTCTCCTCGTCCTCTCCTCCTCCTCTCCCCTTCCTCCTCTCCTCCC CCTCCTCCTCTCCTCCCCCTCCTCCTCTCCTCCCCCTCCTCCTCTCCTCC TCCTCCTCTCCTCCTCCTCCTCTCCTCCCCTTCCTCCTCCTCTCCTCCCC TTCCTCCTCCTCTTCTCCTCCTCCTCTCCTCTTCTCCTCCTCCTCTCTTC CTCCTCTCCTCCTCCTCCTCTCCTCCCCTTCCTCCTCCTCTCCTCCCCTT CCTCCTCCTCTTCTCCTCCTCCTCTCCTCTTCTCCTCCTCCTCTCTTCCT CCTCTCCTCCTCCTCCTCTTCTTTTCCTCTCCTCCTCCTCTCTTCCTTCT CTCCTCCTCTCCTCTTCCTCTCCTTCTCCTCTCCTCTTCCTGCTCCTCTC GTCCTCCTCCCCTCCTCCTCCCCCTCTCCTCCTCCCCCTCTCCTCCTCCC CCTCTCCTCCTCCCCCTCTCCTCCTCCCCCTCCCCTCCTCCCCCTCCCCT CCTCCTCCTCTCCTCCTCTCTTCCTCCTCTCCTCCTCTCTTCCTCCTCTC CTCCTCTCCTCTTCCTCTCCTTCTCCTCTCCTCATCCTGCTCCTCTTGTC CTCCTCTCCTCCTCCTTCTCTCCTCTTCCTGCTCCTCTCGTCCTCCTCTC GTCCTCCTCTCCTCCTCCTCTCCTCTTCCTCTCCTGCCCCTCCTCCTCCT CTCCTCCTCCTCCTCCTCTCCTCCCCCTCCTCCTCCTCCTCTCCTCCCCC TCCTCCTCTCCTCCCCTTCCTCCTCTTCTCCTCCTCCTCTCCTCTTCCTC TCCTCCTCCTCTCTTCCTCCTCTCCTCCTCCTCTTCTTTTCCTCTCCTCC TCCTCTCTTCCTTCTCTCCTCCTCTCCTCTTCCTCTCCTTCTCCTCTCCT CTTCCTGCTCCTCTCGTCCTCCTCTCCTCCTCCTCTCCTCTTCCTGCTCC TCTCGTCCTCCTCTCCTCCTCCTCTCCTCTTCCTCTCCTGCCCCTCCTCC TCTCCTCCTCCTCCCCTTCTCCTCCTCCCCCTCCTCCTCCCCTCTCCTCC TCCCCCTCTCCTCCTTCCCCTCTCCTCCTCCCCCCTCCTCCTCCCCCTCT CCTCCTCCCCCTCTCCTCCTTCCCCTCTCCTCCTCCCCCATCCTCCTCCC CCTCTCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCTCCTCTCCTCCTCCT CCTCTCCTCCTCCTCCTCTCCTCCTCCTCCTCTCCTCCTCCTCTTTTCCT CCTCTCCTCCTCTCCTCTTCCTCTCCTTCTCCTCCCCTCATCCTGCTCCT CTCGTCCTCCTCTCCTCCTCCTTCTCTCCTCTTCCTGCTCCTCTCGTCCT CCTCTCCTCCTCCTCTCCTCTTCCTCTCCTGCCCCTCCTCCTCTCCTGCC CCTCCTCCTCTCCTCCCCCTCCTCCTCTCCTCCCCCTCCTCCTCTCCTCC CCCTCCTCCTCTCCTCCCCTTCCTCCTCCTCTTCTCCTCCTCCTCTCCTC TTCCTCTCCTCCTCCTCTCTTCCTCCTCTCCTCCTCCTCCTCTTCTTTTC CTCTCCTCCTCCTCTCTTCCTTCTCTCCTCCTCTCCTCTTCCTCTCCTTC TCCTCTCCTCCTCCTCTCTTCCTCTCCTCCTCCTCTCCTCTTTTCCTCAT CCTCTCCTCCTTCTCCTCTCCTCTGCCTCCTCCTCTCCTCCTCCTTGTCT CCTCCTCCTACCCTCCTCCTTCCCTCTTCCTCCTCTCCTCCTCCTCTTCT TTTCCTCCTCTCCTCCTTCTTGTCTCCTCCCCGTCCTCTTCTCCTTCCCT CTTCCTCCTCCACTCCTCCTCCTCTCCTCCTTCTCCTCCTCCTCCTCTCC TCCTTCTTCTCTCCTCCTCCACTCCTCCTCTTC	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18984.hp1 HG02074.hp2 NA18984.hp1	a0001 a0027 a0001 a0027	a0001c0001 a0027c0030 a0001c0001 a0027c0030	a0001c0001t0004 a0027c0030t0004 a0001c0001t0004 a0027c0030t0004	a0001c0001t0004g0212 a0027c0030t0004g0210 a0001c0001t0004g0212 a0027c0030t0004g0210	2	218	0.0092	2032	c.108 others(2049): Show c.1084+680_1084+681insGAAGAGGAGGAGTGGAGGAGGAGAGAAG AAGGAGGAGAGGAGGAGGAGGAGAAGGAGGAGAGGAGGAGGAGTGGAGGA GGAAGAGGGAAGGAGAAGAGGACGGGGAGGAGACAAGAAGGAGGAGAGGA GGAAAAGAAGAGGAGGAGGAGAGGAGGAAGAGGGAAGGAGGAGGGTAGGA GGAGGAGACAAGGAGGAGGAGAGGAGGAGGCAGAGGAGAGGAGAAGGAGG AGAGGATGAGGAAAAGAGGAGAGGAGGAGGAGAGGAAGAGAGGAGGAGGA GAGGAGAAGGAGAGGAAGAGGAGAGGAGGAGAGAAGGAAGAGAGGAGGAG GAGAGGAAAAGAAGAGGAGGAGGAGGAGAGGAGGAAGAGAGGAGGAGGAG AGGAAGAGGAGAGGAGGAGGAGAAGAGGAGGAGGAAGGGGAGGAGAGGAG GAGGGGGAGGAGAGGAGGAGGGGGAGGAGAGGAGGAGGGGGAGGAGAGGA GGAGGGGCAGGAGAGGAGGAGGGGCAGGAGAGGAAGAGGAGAGGAGGAGG AGAGGAGGACGAGAGGAGCAGGAAGAGGAGAGAAGGAGGAGGAGAGGAGG ACGAGAGGAGCAGGATGAGGGGAGGAGAAGGAGAGGAAGAGGAGAGGAGG AGAGGAGGAAAAGAGGAGGAGGAGAGGAGGAGGAGGAGAGGAGGAGGAGG AGAGGAGGAGGAGGAGAGGAGGAGGAGGGGAGGAGGGGAGGGGGAGGAGG AGAGGGGGAGGAGGATGGGGGAGGAGGAGAGGGGAAGGAGGAGAGGGGGA GGAGGAGAGGGGGAGGAGGAGGGGGGAGGAGGAGAGGGGAAGGAGGAGAG GGGGAGGAGGAGAGGGGAGGAGGAGGGGGAGGAGGAGAAGGGGAGGAGGA GGAGAGGAGGAGGGGCAGGAGAGGAAGAGGAGAGGAGGAGGAGAGGAGGA CGAGAGGAGCAGGAAGAGGAGAGGAGGAGGAGAGGAGGACGAGAGGAGCA GGAAGAGGAGAGGAGAAGGAGAGGAAGAGGAGAGGAGGAGAGAAGGAAGA GAGGAGGAGGAGAGGAAAAGAAGAGGAGGAGGAGAGGAGGAAGAGAGGAG GAGGAGAGGAAGAGGAGAGGAGGAGGAGAAGAGGAGGAAGGGGAGGAGAG GAGGAGGGGGAGGAGAGGAGGAGGAGGAGGGGGAGGAGAGGAGGAGGAGG AGGAGAGGAGGAGGAGGGGCAGGAGAGGAAGAGGAGAGGAGGAGGAGAGG AGGACGAGAGGAGGACGAGAGGAGCAGGAAGAGGAGAGAAGGAGGAGGAG AGGAGGACAAGAGGAGCAGGATGAGGAGAGGAGAAGGAGAGGAAGAGGAG AGGAGGAGAGGAGGAAGAGAGGAGGAGAGGAGGAAGAGAGGAGGAGAGGA GGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGAGAGGGGGAGGAGG AGAGGGGGAGGAGGAGAGGGGGAGGAGGAGAGGGGGAGGAGGAGGGGAGG AGGACGAGAGGAGCAGGAAGAGGAGAGGAGAAGGAGAGGAAGAGGAGAGG AGGAGAGAAGGAAGAGAGGAGGAGGAGAGGAAAAGAAGAGGAGGAGGAGG AGAGGAGGAAGAGAGGAGGAGGAGAAGAGGAGAGGAGGAGGAGAAGAGGA GGAGGAAGGGGAGGAGAGGAGGAGGAAGGGGAGGAGAGGAGGAGGAGGAG AGGAGGAAGAGAGGAGGAGGAGAAGAGGAGAGGAGGAGGAGAAGAGGAGG AGGAAGGGGAGGAGAGGAGGAGGAAGGGGAGGAGAGGAGGAGGAGGAGAG GAGGAGGAGGAGAGGAGGAGGGGGAGGAGAGGAGGAGGGGGAGGAGAGGA GGAGGGGGAGGAGAGGAGGAAGGGGAGAGGAGGAGGAGAGGACGAGGAGA GGAAGAGGAGAGGAGGAGGAGAGGACGAGGAGAGGAAGAGAGGAGGAGAC AAGGAGGAGAGGAGGAGGTGGAGAGGAGGAGGAGAGGAGGAAGAGGAGCA GAAGAGGAGGAGGAGAGGAGGAGGTGGTGGACAAGAGGAGGAGGAGGAGA GGAG	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	11/20			chr19	TogoVar
ADGRE2_chr19_14727392_14783560	14763752	T T	TCTCCTCT others(2025): Show TCTCCTCTCCTCCTCCTCCTCTTGTCCACCACCTCCTCCTCTCCTCCTCC TCTTCTGCTCCTCTTCCTCCTCTCCTCCTCCTCTCCACCTCCTCCTCTCC TCCTTGTCTCCTCCTCTCTTCCTCTCCTCGTCCTCTCCTCCTCCTCTCCT CTTCCTCTCCTCGTCCTCTCCTCCTCCTCTCCCCTTCCTCCTCTCCTCCC CCTCCTCCTCTCCTCCCCCTCCTCCTCTCCTCCCCCTCCTCCTCTCCTCC TCCTCCTCTCCTCCTCCTCCTCTCCTCCCCTTCCTCCTCCTCTCCTCCCC TTCCTCCTCCTCTTCTCCTCCTCCTCTCCTCTTCTCCTCCTCCTCTCTTC CTCCTCTCCTCCTCCTCCTCTCCTCCCCTTCCTCCTCCTCTCCTCCCCTT CCTCCTCCTCTTCTCCTCCTCCTCTCCTCTTCTCCTCCTCCTCTCTTCCT CCTCTCCTCCTCCTCCTCTTCTTTTCCTCTCCTCCTCCTCTCTTCCTTCT CTCCTCCTCTCCTCTTCCTCTCCTTCTCCTCTCCTCTTCCTGCTCCTCTC GTCCTCCTCCCCTCCTCCTCCCCCTCTCCTCCTCCCCCTCTCCTCCTCCC CCTCTCCTCCTCCCCCTCTCCTCCTCCCCCTCTCCTCCTCCCCCTCCCCT CCTCCCCCTCCCCTCCTCCTCCTCTCCTCCTCTCTTCCTCCTCTCCTCCT CTCTTCCTCCTCTCCTCCTCTCCTCTTCCTCTCCTTCTCCTCTCCTCATC CTGCTCCTCTTGTCCTCCTCTCCTCCTCCTTCTCTCCTCTTCCTGCTCCT CTCGTCCTCCTCTCGTCCTCCTCTCCTCCTCCTCTCCTCTTCCTCTCCTG CCCCTCCTCCTCCTCTCCTCCTCCTCCTCCTCTCCTCCCCCTCCTCCTCC TCCTCTCCTCCCCCTCCTCCTCTCCTCCCCTTCCTCCTCTTCTCCTCCTC CTCTCCTCTTCCTCTCCTCCTCCTCTCTTCCTCCTCTCCTCCTCCTCTTC TTTTCCTCTCCTCCTCCTCTCTTCCTTCTCTCCTCCTCTCCTCTTCCTCT CCTTCTCCTCTCCTCTTCCTGCTCCTCTCGTCCTCCTCTCCTCCTCCTCT CCTCTTCCTGCTCCTCTCGTCCTCCTCTCCTCCTCCTCTCCTCTTCCTCT CCTGCCCCTCCTCCTCTCCTCCTCCTCCCCTTCTCCTCCTCCCCCTCCTC CTCCCCTCTCCTCCTCCCCCTCTCCTCCTTCCCCTCTCCTCCTCCCCCCT CCTCCTCCCCCTCTCCTCCTCCCCCTCTCCTCCTTCCCCTCTCCTCCTCC CCCATCCTCCTCCCCCTCTCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCT CCTCTCCTCCTCCTCCTCTCCTCCTCCTCCTCTCCTCCTCCTCTTTTCCT CCTCTCCTCCTCTCCTCTTCCTCTCCTTCTCCTCCCCTCATCCTGCTCCT CTCGTCCTCCTCTCCTCCTCCTTCTCTCCTCTTCCTGCTCCTCTCGTCCT CCTCTCCTCCTCCTCTCCTCTTCCTCTCCTGCCCCTCCTCCTCTCCTGCC CCTCCTCCTCTCCTCCCCCTCCTCCTCTCCTCCCCCTCCTCCTCTCCTCC CCCTCCTCCTCTCCTCCCCTTCCTCCTCCTCTTCTCCTCCTCCTCTCCTC TTCCTCTCCTCCTCCTCTCTTCCTCCTCTCCTCCTCCTCCTCTTCTTTTC CTCTCCTCCTCCTCTCTTCCTTCTCTCCTCCTCTCCTCTTCCTCTCCTTC TCCTCTCCTCCTCCTCTCTTCCTCTCCTCCTCCTCTCCTCTTTTCCTCAT CCTCTCCTCCTTCTCCTCTCCTCTGCCTCCTCCTCTCCTCCTCCTTGTCT CCTCCTCCTACCCTCCTCCTTCCCTCTTCCTCCTCTCCTCCTCCTCTTCT TTTCCTCCTCTCCTCCTTCTTGTCTCCTCCCCGTCCTCTTCTCCTTCCCT CTTCCTCCTCCACTCCTCCTCCTCTCCTCCTTCTCCTCCTCCTCCTCTCC TCCTTCTTCTCTCCTCCTCCACTCCTCCTCTTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG00099.hp2 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0206 a0001c0001t0004g0208 a0001c0001t0004g0206 a0001c0001t0004g0208	2	218	0.0092	2032	c.108 others(2049): Show c.1084+680_1084+681insGAAGAGGAGGAGTGGAGGAGGAGAGAAG AAGGAGGAGAGGAGGAGGAGGAGAAGGAGGAGAGGAGGAGGAGTGGAGGA GGAAGAGGGAAGGAGAAGAGGACGGGGAGGAGACAAGAAGGAGGAGAGGA GGAAAAGAAGAGGAGGAGGAGAGGAGGAAGAGGGAAGGAGGAGGGTAGGA GGAGGAGACAAGGAGGAGGAGAGGAGGAGGCAGAGGAGAGGAGAAGGAGG AGAGGATGAGGAAAAGAGGAGAGGAGGAGGAGAGGAAGAGAGGAGGAGGA GAGGAGAAGGAGAGGAAGAGGAGAGGAGGAGAGAAGGAAGAGAGGAGGAG GAGAGGAAAAGAAGAGGAGGAGGAGGAGAGGAGGAAGAGAGGAGGAGGAG AGGAAGAGGAGAGGAGGAGGAGAAGAGGAGGAGGAAGGGGAGGAGAGGAG GAGGGGGAGGAGAGGAGGAGGGGGAGGAGAGGAGGAGGGGGAGGAGAGGA GGAGGGGCAGGAGAGGAGGAGGGGCAGGAGAGGAAGAGGAGAGGAGGAGG AGAGGAGGACGAGAGGAGCAGGAAGAGGAGAGAAGGAGGAGGAGAGGAGG ACGAGAGGAGCAGGATGAGGGGAGGAGAAGGAGAGGAAGAGGAGAGGAGG AGAGGAGGAAAAGAGGAGGAGGAGAGGAGGAGGAGGAGAGGAGGAGGAGG AGAGGAGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGAGAGGGGGAGGAGG ATGGGGGAGGAGGAGAGGGGAAGGAGGAGAGGGGGAGGAGGAGAGGGGGA GGAGGAGGGGGGAGGAGGAGAGGGGAAGGAGGAGAGGGGGAGGAGGAGAG GGGAGGAGGAGGGGGAGGAGGAGAAGGGGAGGAGGAGGAGAGGAGGAGGG GCAGGAGAGGAAGAGGAGAGGAGGAGGAGAGGAGGACGAGAGGAGCAGGA AGAGGAGAGGAGGAGGAGAGGAGGACGAGAGGAGCAGGAAGAGGAGAGGA GAAGGAGAGGAAGAGGAGAGGAGGAGAGAAGGAAGAGAGGAGGAGGAGAG GAAAAGAAGAGGAGGAGGAGAGGAGGAAGAGAGGAGGAGGAGAGGAAGAG GAGAGGAGGAGGAGAAGAGGAGGAAGGGGAGGAGAGGAGGAGGGGGAGGA GAGGAGGAGGAGGAGGGGGAGGAGAGGAGGAGGAGGAGGAGAGGAGGAGG AGGGGCAGGAGAGGAAGAGGAGAGGAGGAGGAGAGGAGGACGAGAGGAGG ACGAGAGGAGCAGGAAGAGGAGAGAAGGAGGAGGAGAGGAGGACAAGAGG AGCAGGATGAGGAGAGGAGAAGGAGAGGAAGAGGAGAGGAGGAGAGGAGG AAGAGAGGAGGAGAGGAGGAAGAGAGGAGGAGAGGAGGAGGAGGGGAGGG GGAGGAGGGGAGGGGGAGGAGGAGAGGGGGAGGAGGAGAGGGGGAGGAGG AGAGGGGGAGGAGGAGAGGGGGAGGAGGAGAGGGGGAGGAGGAGGGGAGG AGGACGAGAGGAGCAGGAAGAGGAGAGGAGAAGGAGAGGAAGAGGAGAGG AGGAGAGAAGGAAGAGAGGAGGAGGAGAGGAAAAGAAGAGGAGGAGGAGG AGAGGAGGAAGAGAGGAGGAGGAGAAGAGGAGAGGAGGAGGAGAAGAGGA GGAGGAAGGGGAGGAGAGGAGGAGGAAGGGGAGGAGAGGAGGAGGAGGAG AGGAGGAAGAGAGGAGGAGGAGAAGAGGAGAGGAGGAGGAGAAGAGGAGG AGGAAGGGGAGGAGAGGAGGAGGAAGGGGAGGAGAGGAGGAGGAGGAGAG GAGGAGGAGGAGAGGAGGAGGGGGAGGAGAGGAGGAGGGGGAGGAGAGGA GGAGGGGGAGGAGAGGAGGAAGGGGAGAGGAGGAGGAGAGGACGAGGAGA GGAAGAGGAGAGGAGGAGGAGAGGACGAGGAGAGGAAGAGAGGAGGAGAC AAGGAGGAGAGGAGGAGGTGGAGAGGAGGAGGAGAGGAGGAAGAGGAGCA GAAGAGGAGGAGGAGAGGAGGAGGTGGTGGACAAGAGGAGGAGGAGGAGA GGAG	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	11/20			chr19	TogoVar
ADGRE2_chr19_14727392_14783560	14763755	C C	CCTCTCCT others(2025): Show CCTCTCCTCCTCCTCCTCTTGTCCACCACCTCCTCCTCTCCTCCTCCTCT TCTGCTCCTCTTCCTCCTCTCCTCCTCCTCTCCACCTCCTCCTCTCCTCC TTGTCTCCTCCTCTCTTCCTCTCCTCGTCCTCTCCTCCTCCTCTCCTCTT CCTCTCCTCGTCCTCTCCTCCTCCTCTCCCCTTCCTCCTCTCCTCCCCCT CCTCCTCTCCTCCTCCTCCTCCTCTCCTCCCCCTCCTCCTCTCCTCCTCC TCCTCTCCTCCTCCTCCTCTCCTTCCCTTCCTCCTCCTCTCCTCCCCTTC CTCCTCCTCTTCTCCTCCTCCTCTCCTCTTCTCCTCCTCCTCTCTTCCTC CTCTCCTCCTCCTCCTCTCCTCCCCTTCCTCCTCCTCTCCTCCCCTTCCT CCTCCTCTTCTCCTCCTCCTCTCCTCTTCTCCTCCTCCTCTCTCCTCCTC TCCTCCTCCTCCTCTTCTTTTCCTCTCCTCCTCCTCTCTTCCTTCTCTCC TCCTCTCCTCTTCCTCTCCTTCTCCTCTCCTCTTCCTGCTCCTCTCGTCC TCCTCCCCTCCTCCTCCCCCTCTCCTCCTCCCCCTCTCCTCCTCCCCCTC TCCTCCTCCCCCTCTCCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTC CTCCTCTCCTCCTCTCTTCCTCCTCTCCTCCTCTCTTCCTCCTCTCCTCC TCTCCTCTTCCTCTCCTTCTCCTCTCCTCATCCTGCTCCTCTTGTCCTCC TCTCCTCCTCCTTCTCTCCTCTTCCTGCTCCTCTCGTCCTCCTCTCGTCC TCCTCTCCTCCTCCTCTCCTCTTCCTCTCCTGCCCCTCCTCCTCCTCTCC TCCTCCTCCTCCTCCTCTCCTCCCCCTCCTCCTCCTCCTCTCCTCCCCCT CCTCCTCTCCTCCCCTTCCTCCTCCTCTTCTCCTCCTCCTCTCCTCTTCC TCTCCTCCTCCTCTCTTCCTCCTCTCCTCCTCCTCTTCTTTTCCTCTCCT CCTCCTCTCTTCCTTCTCTCCTCCTCTCCTCTTCCTCTCCTTCTCCTCTC CTCTTCCTGCTCCTCTCGTCCTCCTCTCCTCCTCCTCTCCTCTTCCTGCT CCTCTCGTCCTCCTCTCCTCCTCCTCTCCTCTTCCTCTCCTGCCCCTCCT CCTCTCCTCCTCCTCCCCTTCTCCTCCTCCCCCTCCTCCTCCCCTCTCCT CCTCCCCCTCTCCTCCTTCCCCTCTCCTCCTCCCCCCTCCTCCTCCCCCT CTCCTCCTCCCCCTCTCCTCCTTCCCCTCTCCTCCTCCCCCATCCTCCTC CCCCTCTCCTCCTCCCCCTCCCCTCCTCCCCCTCTCCTCCTCCCCCTCCT CCTCCTCTCCTCCTCCTCCTCTCCTCCTCCTCCTCTCCTCCTCCTCTTTT CCTCCTCTCCTCCTCTCCTCTTCCTCTCCTTCTCCTCCCCTCATCCTGCT CCTCTCGTCCTCCTCTCCTCCTCCTTCTCTCCTCTTCCTGCTCCTCTCGT CCTCCTCTCCTCCTCCTCTCCTCTTCCTCTCCTGCCCCTCCTCCTCTCCT GCCCCTCCTCCTCTCCTGCCCCTCCTCCTCTCCTCCCCCTCCTCCTCTCC TCCCCTTCCTCCTCTTCTCCTCCTCCTCTCCTCTTCCTCTCCTCCTCCTC TCTTCCTCCTCTCCTCCTCCTCCTCTTCTTTTCCTCTCCTCCTCCTCTCT TCCTTCTCTCCTCCTCTCCTCTTCCTCTCCTTCTCCTCTCCTCCTCCTCT CTTCCTCTCCTCCTCCTCTCCTCTTTTCCTCATCCTCTCCTCCTTCTCCT CTCCTCTGCCTCCTCCTCTCCTCCTCCTTGTCTCCTCCTCCTACCCTCCT CCTTCCCTCTTCCTCCTCTCCTCCTCCTCTTCTTTTCCTCCTCTCCTCCT TCTTGTCTCCTCCCCGTCCTCTTCTCCTTCCCTCTTCCTCCTCCACTCCT CCTCCTCTCCTCCTTCTCCTCCTCCTCCTCTCCTCCTTCTTCTCTCCTCC TCCACTCCTCCTCTTCCTCCTCTCCTCCTCCTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0008 a0008	a0008c0034 a0008c0034	a0008c0034t0035 a0008c0034t0035	a0008c0034t0035g0067 a0008c0034t0035g0067	1	218	0.0046	2032	c.108 others(2049): Show c.1084+677_1084+678insAAGGAGGAGGAGAGGAGGAAGAGGAGGA GTGGAGGAGGAGAGAAGAAGGAGGAGAGGAGGAGGAGGAGAAGGAGGAGA GGAGGAGGAGTGGAGGAGGAAGAGGGAAGGAGAAGAGGACGGGGAGGAGA CAAGAAGGAGGAGAGGAGGAAAAGAAGAGGAGGAGGAGAGGAGGAAGAGG GAAGGAGGAGGGTAGGAGGAGGAGACAAGGAGGAGGAGAGGAGGAGGCAG AGGAGAGGAGAAGGAGGAGAGGATGAGGAAAAGAGGAGAGGAGGAGGAGA GGAAGAGAGGAGGAGGAGAGGAGAAGGAGAGGAAGAGGAGAGGAGGAGAG AAGGAAGAGAGGAGGAGGAGAGGAAAAGAAGAGGAGGAGGAGGAGAGGAG GAAGAGAGGAGGAGGAGAGGAAGAGGAGAGGAGGAGGAGAAGAGGAGGAA GGGGAGGAGAGGAGGAGGGGGAGGAGAGGAGGAGGGGCAGGAGAGGAGGA GGGGCAGGAGAGGAGGAGGGGCAGGAGAGGAAGAGGAGAGGAGGAGGAGA GGAGGACGAGAGGAGCAGGAAGAGGAGAGAAGGAGGAGGAGAGGAGGACG AGAGGAGCAGGATGAGGGGAGGAGAAGGAGAGGAAGAGGAGAGGAGGAGA GGAGGAAAAGAGGAGGAGGAGAGGAGGAGGAGGAGAGGAGGAGGAGGAGA GGAGGAGGAGGGGGAGGAGGAGAGGGGGAGGAGGGGAGGGGGAGGAGGAG AGGGGGAGGAGGATGGGGGAGGAGGAGAGGGGAAGGAGGAGAGGGGGAGG AGGAGAGGGGGAGGAGGAGGGGGGAGGAGGAGAGGGGAAGGAGGAGAGGG GGAGGAGGAGAGGGGAGGAGGAGGGGGAGGAGGAGAAGGGGAGGAGGAGG AGAGGAGGAGGGGCAGGAGAGGAAGAGGAGAGGAGGAGGAGAGGAGGACG AGAGGAGCAGGAAGAGGAGAGGAGGAGGAGAGGAGGACGAGAGGAGCAGG AAGAGGAGAGGAGAAGGAGAGGAAGAGGAGAGGAGGAGAGAAGGAAGAGA GGAGGAGGAGAGGAAAAGAAGAGGAGGAGGAGAGGAGGAAGAGAGGAGGA GGAGAGGAAGAGGAGAGGAGGAGGAGAAGAGGAGGAGGAAGGGGAGGAGA GGAGGAGGGGGAGGAGAGGAGGAGGAGGAGGGGGAGGAGAGGAGGAGGAG GAGGAGGAGAGGAGGAGGAGGGGCAGGAGAGGAAGAGGAGAGGAGGAGGA GAGGAGGACGAGAGGAGGACGAGAGGAGCAGGAAGAGGAGAGAAGGAGGA GGAGAGGAGGACAAGAGGAGCAGGATGAGGAGAGGAGAAGGAGAGGAAGA GGAGAGGAGGAGAGGAGGAAGAGAGGAGGAGAGGAGGAAGAGAGGAGGAG AGGAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGAGAGGGGGAG GAGGAGAGGGGGAGGAGGAGAGGGGGAGGAGGAGAGGGGGAGGAGGAGGG GAGGAGGACGAGAGGAGCAGGAAGAGGAGAGGAGAAGGAGAGGAAGAGGA GAGGAGGAGAGAAGGAAGAGAGGAGGAGGAGAGGAAAAGAAGAGGAGGAG GAGGAGAGGAGGAGAGAGGAGGAGGAGAAGAGGAGAGGAGGAGGAGAAGA GGAGGAGGAAGGGGAGGAGAGGAGGAGGAAGGGGAGGAGAGGAGGAGGAG GAGAGGAGGAAGAGAGGAGGAGGAGAAGAGGAGAGGAGGAGGAGAAGAGG AGGAGGAAGGGGAGGAGAGGAGGAGGAAGGGAAGGAGAGGAGGAGGAGGA GAGGAGGAGGAGGAGAGGAGGAGGGGGAGGAGAGGAGGAGGAGGAGGAGA GGAGGAGGGGGAGGAGAGGAGGAAGGGGAGAGGAGGAGGAGAGGACGAGG AGAGGAAGAGGAGAGGAGGAGGAGAGGACGAGGAGAGGAAGAGAGGAGGA GACAAGGAGGAGAGGAGGAGGTGGAGAGGAGGAGGAGAGGAGGAAGAGGA GCAGAAGAGGAGGAGGAGAGGAGGAGGTGGTGGACAAGAGGAGGAGGAGG AGAG	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	11/20			chr19	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2025): Show CGGCCTCCCAAAGTGCTGGGATGACGGGCTTGAGCTACTTTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCT CTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTG CAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAG TCACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTT TTAGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCT GACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAG GCGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGA TCTTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTC TCCTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACA CGCAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCT CGTTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA ACCTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTA GCTGAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTC AGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGG CCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGC ATGAGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGAC ATCAATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTA AGTGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACA CAGTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTT GAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCT TGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCA GCCTCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAAT TTTTTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCT GGGATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTAC ATGAACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTC CAGCTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCG AGACCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAA AAATTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTC AGGAGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAG TGAGTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACT CTTATATAAGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAAT CAGACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCC AGATTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTG AGATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTC AGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAG CCTCCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATT TTTGTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGT CAAACTCCTGGCCTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19063.hp1 NA19009.hp1 NA19063.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0022 a0001c0002 a0006c0022	a0001c0002t0001 a0006c0022t0004 a0001c0002t0001 a0006c0022t0004	a0001c0002t0001g0103 a0006c0022t0004g0073 a0001c0002t0001g0103 a0006c0022t0004g0073	2	159	0.0126	2032	c.-90 others(2047): Show c.-90-158_-90-157insGACGGGCTTGAGCTACTTTGCCCGGCCTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCT GTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGCA ACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTC ACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTTT AGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGA CCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGC GTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATC TTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTC CTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACG CAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCG TTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAC CTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGC TGAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAG TAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCC TCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCAT GAGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACAT CAATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAG TGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACA GTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTGA GACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTG GCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGC CTCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTT TTTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGG GATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACAT GAACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCA GCTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAG ACCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAA ATTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAG GAGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTG AGTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCT TATATAAGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCA GACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAG ATTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAG ATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAG CTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCC TCCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTT TGTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCA AACTCCTGGCCTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGG AT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2025): Show CGGCCTCCCAAAGTGCTGGGATGACGGGCTTGAGCTACTTTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCT CTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTG CAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAG TCACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTT TTAGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCT GACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAG GCGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCG ATCTTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATT CTCCTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCAC ACGCAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCT CGTTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA ACCTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTA GCTGAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTC AGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGG CCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGC ATGAGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGAC ATCAATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTA AGTGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACA CAGTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTT GAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCT TGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCA GCCTCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAAT TTTTTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCT GGGATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTAC ATGAACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTC CAGCTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCG AGACCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAA AAATTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTC AGGAGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAG TGAGTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACT CTTATATAAGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAAT CAGACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCC AGATTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTG AGATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTC AGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAG CCTCCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATT TTTGTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGT CAAACTCCTGGCCTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA19010.hp2 HG03704.hp1 NA19010.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0021 a0001c0001 a0011c0021	a0001c0001t0015 a0011c0021t0004 a0001c0001t0015 a0011c0021t0004	a0001c0001t0015g0027 a0011c0021t0004g0074 a0001c0001t0015g0027 a0011c0021t0004g0074	2	159	0.0126	2032	c.-90 others(2047): Show c.-90-158_-90-157insGACGGGCTTGAGCTACTTTGCCCGGCCTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCT GTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGCA ACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTC ACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTTT AGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGA CCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGC GTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGAT CTTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCT CCTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACAC GCAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCG TTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAC CTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGC TGAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAG TAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCC TCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCAT GAGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACAT CAATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAG TGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACA GTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTGA GACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTG GCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGC CTCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTT TTTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGG GATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACAT GAACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCA GCTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAG ACCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAA ATTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAG GAGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTG AGTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCT TATATAAGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCA GACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAG ATTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAG ATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAG CTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCC TCCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTT TGTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCA AACTCCTGGCCTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGG AT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2025): Show CGGCCTCCCAAAGTGCTGGGATGACGGGCTTGAGCTACTTTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGC TCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACT GCAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGA GTCACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATT TTTAGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTC TGACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACA GGCGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCG ATCTTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATT CTCCTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCAC ACGCAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCT CGTTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA ACCTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTA GCTGAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTC AGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGG CCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGC ATGAGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGAC ATCAATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTA AGTGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACA CAGTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTT GAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCT TGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCA GCCTCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAAT TTTTTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCT GGGATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTAC ATGAACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTC CAGCTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCG AGACCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAA AAATTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTC AGGAGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAG TGAGTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACT CTTATATAAGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAAT CAGACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCC AGATTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTG AGATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTC AGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAG CCTCCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATT TTTGTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGT CAAACTCCTGGCCTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02004.hp2 HG03927.hp1 others(1): Show HG00408.hp2 HG02004.hp2 HG03927.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0015 a0001c0001 a0001c0002 a0001c0015	a0001c0001t0002 a0001c0002t0003 a0001c0015t0003 a0001c0001t0002 a0001c0002t0003 a0001c0015t0003	a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0002t0003g0080 others(1): Show a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0002t0003g0080 a0001c0015t0003g0081	4	159	0.0252	2032	c.-90 others(2047): Show c.-90-158_-90-157insGACGGGCTTGAGCTACTTTGCCCGGCCTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTC TGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGC AACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGT CACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTT TAGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTG ACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGG CGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGAT CTTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCT CCTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACAC GCAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCG TTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAC CTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGC TGAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAG TAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCC TCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCAT GAGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACAT CAATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAG TGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACA GTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTGA GACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTG GCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGC CTCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTT TTTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGG GATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACAT GAACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCA GCTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAG ACCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAA ATTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAG GAGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTG AGTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCT TATATAAGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCA GACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAG ATTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAG ATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAG CTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCC TCCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTT TGTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCA AACTCCTGGCCTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGG AT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2025): Show CGGCCTCCCAAAGTGCTGGGATGACGGGCTTGAGCTACTTTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTG CTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCAC TGCAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCG AGTCACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTAT TTTTAGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTT CTGACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGAC AGGCGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCG ATCTTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATT CTCCTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCAC ACGCAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCT CGTTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA ACCTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTA GCTGAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTC AGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGG CCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGC ATGAGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGAC ATCAATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTA AGTGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACA CAGTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTT GAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCT TGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCA GCCTCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAAT TTTTTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCT GGGATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTAC ATGAACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTC CAGCTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCG AGACCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAA AAATTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTC AGGAGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAG TGAGTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACT CTTATATAAGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAAT CAGACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCC AGATTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTG AGATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTC AGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAG CCTCCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATT TTTGTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGT CAAACTCCTGGCCTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0087 a0001c0001t0003g0087	1	159	0.0063	2032	c.-90 others(2047): Show c.-90-158_-90-157insGACGGGCTTGAGCTACTTTGCCCGGCCTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCT CTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTG CAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAG TCACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTT TTAGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCT GACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAG GCGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGAT CTTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCT CCTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACAC GCAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCG TTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAC CTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGC TGAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAG TAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCC TCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCAT GAGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACAT CAATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAG TGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACA GTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTGA GACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTG GCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGC CTCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTT TTTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGG GATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACAT GAACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCA GCTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAG ACCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAA ATTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAG GAGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTG AGTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCT TATATAAGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCA GACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAG ATTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAG ATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAG CTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCC TCCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTT TGTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCA AACTCCTGGCCTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGG AT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
DGKB_chr7_14140049_14907751	14212238	T T	TATTTACT others(2025): Show TATTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTAC TCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATG TTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGT GATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTT ACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCA TGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTT GTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATAT TTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCT CATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTT TGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATA TTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTC TCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTT TGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGAT TTTACTCTCGTGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTC TCGTGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTT TTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGA TTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTAC TCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTG TTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGT GATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTT ACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCA TGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTG TGATTTTACTCTCGTGTTTTGTGATATTTACTCTCATGTTTTGTGATTTT ACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCG TGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTG TGATTTTACTCTCGTGTTTTGTGATATTTACTCTCATGTTTTGTGATTTT ACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCG TGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTG TGATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTT ACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCGT GTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGT GATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTT ACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTC ATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTT TGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGAT ATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTAC TCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATG TTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTG ATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTA CTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCAT GTTTTGTGATATTTACTCTCATGTTTTGTGATA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0103 a0001c0004t0001g0103	1	148	0.0068	2032	c.212 others(2053): Show c.2123-34088_2123-34087insTATCACAAAACATGAGAGTAAATA TCACAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAATATCACAAA ACATGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAACATGAG AGTAAATATCACAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAAT ATCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAA AACATGAGAGTAAATATCACAAAACATGAGAGTAAATATCACAAAACATG AGAGTAAATATCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTA AATATCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAATATC ACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAATATCACAAAA CATGAGAGTAAATATCACAAAACATGAGAGTAAATATCACAAAACATGAG AGTAAAATCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAAA TCACAAAACACGAGAGTAAAATCACAAAACATGAGAGTAAAATCACAAAA CATGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAACACGAGA GTAAAATCACAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAATAT CACAAAACACGAGAGTAAAATCACAAAACATGAGAGTAAATATCACAAAA CATGAGAGTAAAATCACAAAACATGAGAGTAAATATCACAAAACACGAGA GTAAAATCACAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAATAT CACAAAACACGAGAGTAAAATCACAAAACATGAGAGTAAATATCACAAAA CATGAGAGTAAAATCACAAAACATGAGAGTAAATATCACAAAACACGAGA GTAAAATCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAAAT CACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAA CACGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAACATGAGA GTAAATATCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAAT ATCACAAAACACGAGAGTAAAATCACAAAACATGAGAGTAAATATCACAA AACATGAGAGTAAATATCACAAAACATGAGAGTAAATATCACAAAACATG AGAGTAAAATCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAA ATATCACAAAACACGAGAGTAAAATCACAAAACATGAGAGTAAATATCAC AAAACACGAGAGTAAAATCACAAAACATGAGAGTAAATATCACAAAACAC GAGAGTAAAATCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTA AATATCACAAAACACGAGAGTAAAATCACAAAACATGAGAGTAAAATCAC AAAACATGAGAGTAAAATCACAAAACATGAGAGTAAATATCACAAAACAT GAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAACATGAGAGTA AATATCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAAATCA CAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAACA TGAGAGTAAATATCACAAAACATGAGAGTAAATATCACAAAACATGAGAG TAAAATCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAATAT CACAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAATATCACAAAA CATGAGAGTAAATATCACAAAACATGAGAGTAAATATCACAAAACATGAG AGTAAAATCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAAT ATCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAA AACATGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAACACGA GAGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
JAKMIP3_chr10_132060946_132189858	132173086	T T	TCTCTCTC others(2025): Show TCTCTCTCTCCCCCTCTCCTTACCTCTCTCTCTCTCCCCCTCTCCTTCCC TCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCCCTCTCCTTCCCTC TCTCTCTCCCTCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTC TCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCCCCCTCTCCTTCCCTCTC TCTCTCCCCCCCTCTCCTTCCCTCTCTCTCTCTCTCCCCCTCTCCTTCCC TCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCTCCCCCTCTCCTTC CCTCTCTCCCTCCCCCTCTCCTTCCCTCTCTCCTTCCCCCTCTCCTTCCC CCTCTCCTTCCCCCTCTCCCTCCCCCTCTCCTTCCCTCTCTCCCTCCCCA CCCATCCTTCCCTCTCTCCCTCTCCCCCTCTCCTTCCCTCTCTCTCCCTC TCCCTCCCTCTCTCTCTCCCTCTCCTTCCCTCTCTCTCCTCCCCTTCCCT CTCTCTCTCCTCCCCTTCCCTCTCTCTCCCCCTCTCCCTCCCTCTCTCTC CCTCTCCCTCCCTCTCTCTCCCTCTCCCTCCCTCTCCCACCCTCACTCTC CCTCTCCTTCCCTCTCTCTCTCTCTCCTTCCCTCTCTCTCTCTCCCCTTC CCTCTCTCTCTCCCCTTCCCTCTCTCTCTCTCTCTCCTCCCTCTCTCTCT CCCCTTCCCTCTCTCTCTCGCCCTTCCCTCTCTCTCTCTCCCCTTCCCTC TCTCTCTCTCCCCTTCCCTCTCTCTCATCCCCCTCTCCTTCCCTCTCCCT CTCTTACCCTTTCCTTCCCTCTCCTTCCCTCTCCATCCCCTCTCCCTCTC CTTCCCTCTCCTTCCCTCTCCTCTCTCCCCCCCTCCTTCCCTCTCCCTCT CTCCCCCCTCCTTCCCCTCTCCCTCTCTCCCCCCTCCCTTCCCCTCTCCT TCTCTCTCCCCCCTCCTTCCCTCTCCCTCTCTCCCCCCTCCTTCCCTCTC CCTCACTCCCCCCCTCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCTCAC TCCCCCCTCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCCTCTCCCTCAC TCCCCCCTCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCCTCTCCCTCAC TCCCCCCTCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCCTCTCCCTCAC TCCCCCCTCCTTCCCTCTCTCCCCCTCTCCCCCTCTCCCCCCCTCCCCCC CTCCCCCCTCTCCCCCTCTCTCCCCCCCTCCCCCCTCTCCCCCTCTCTCC CCCCCTCCCCCCTCCCCCCTCTCTCCCCCTCTCTCCCCCCTCCCCCCTCC CCCCTCTCTCCCCCTCTCCCCCCCTCCCCCCCTCCCCCCCTCCCCCCTCC CCCCCTCCCCCCTCCCCCTCCCCCCCTCCTTCCCTCTCTCTCCCTCTCCC CCTCCTACCCTCTCTCTCCCTCTCCCCCTCCTTCCCTCTCTCACCCCCTC CCCCTCCTTCCCTCTCTCTCTCCCTCCCCCTCCTTCCCTCTCTCTCTCCC CCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCCCCTC CCCCTCCTTCCCTCTCTCCCCCTCCTTCCCTCTCTCTCCCCCTCCCCCTC CTTCTCCTTCCCTCTCTCTCCCCCTCCCCCTCCTTCTCCTTTCCTCTCTC TCTCCCCCTCCCCCTCCCCCTCCTTCTCCTTCCCTCTCTCTCTCCCCCTC CCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTC CCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTC TCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCC TCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCC TCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCTCTCTC TCTCCCCCTCCTTCCCTCTCTCTCTCCCCCCTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0001 a0002c0023t0001	a0002c0023t0001g0058 a0002c0023t0001g0058	1	158	0.0063	2032	c.11 others(2053): Show c.1103+4054_*1103+4055insTCTCTCTCCCCCTCTCCTTACCTC TCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTCCC TCTCTCTCTCCCTCTCCTTCCCTCTCTCTCTCCCTCTCCTTCCCTCTCTC TCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTC TCTCTCCCCCTCTCCTTCCCTCTCTCTCTCCCCCCCTCTCCTTCCCTCTC TCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCCCCCTCTCCTTCCCTC TCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCCCTCCCCCTCTCCTTCCC TCTCTCCTTCCCCCTCTCCTTCCCCCTCTCCTTCCCCCTCTCCCTCCCCC TCTCCTTCCCTCTCTCCCTCCCCACCCATCCTTCCCTCTCTCCCTCTCCC CCTCTCCTTCCCTCTCTCTCCCTCTCCCTCCCTCTCTCTCTCCCTCTCCT TCCCTCTCTCTCCTCCCCTTCCCTCTCTCTCTCCTCCCCTTCCCTCTCTC TCCCCCTCTCCCTCCCTCTCTCTCCCTCTCCCTCCCTCTCTCTCCCTCTC CCTCCCTCTCCCACCCTCACTCTCCCTCTCCTTCCCTCTCTCTCTCTCTC CTTCCCTCTCTCTCTCTCCCCTTCCCTCTCTCTCTCCCCTTCCCTCTCTC TCTCTCTCTCCTCCCTCTCTCTCTCCCCTTCCCTCTCTCTCTCGCCCTTC CCTCTCTCTCTCTCCCCTTCCCTCTCTCTCTCTCCCCTTCCCTCTCTCTC ATCCCCCTCTCCTTCCCTCTCCCTCTCTTACCCTTTCCTTCCCTCTCCTT CCCTCTCCATCCCCTCTCCCTCTCCTTCCCTCTCCTTCCCTCTCCTCTCT CCCCCCCTCCTTCCCTCTCCCTCTCTCCCCCCTCCTTCCCCTCTCCCTCT CTCCCCCCTCCCTTCCCCTCTCCTTCTCTCTCCCCCCTCCTTCCCTCTCC CTCTCTCCCCCCTCCTTCCCTCTCCCTCACTCCCCCCCTCCTTCCCTCTC CCTCACTCCCCCCTCCTTCCTCACTCCCCCCTCCTTCCCTCTCCCTCACT CCCCCCTCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCCTCTCCCTCACT CCCCCCTCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCCTCTCCCTCACT CCCCCCTCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCCTCTCTCCCCCT CTCCCCCTCTCCCCCCCTCCCCCCCTCCCCCCTCTCCCCCTCTCTCCCCC CCTCCCCCCTCTCCCCCTCTCTCCCCCCCTCCCCCCTCCCCCCTCTCTCC CCCTCTCTCCCCCCTCCCCCCTCCCCCCTCTCTCCCCCTCTCCCCCCCTC CCCCCCTCCCCCCCTCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCCCCCC TCCTTCCCTCTCTCTCCCTCTCCCCCTCCTACCCTCTCTCTCCCTCTCCC CCTCCTTCCCTCTCTCACCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCTC CCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCCCCTCCTTCCCTCTC TCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCTCCT TCCCTCTCTCTCCCCCTCCCCCTCCTTCTCCTTCCCTCTCTCTCCCCCTC CCCCTCCTTCTCCTTTCCTCTCTCTCTCCCCCTCCCCCTCCCCCTCCTTC TCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCC TCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTC TCCCCCTCCCCCTCCTTCCCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTC TCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTC CCTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCTCTC TCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTC CCCCCTCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
OPRPN_chr4_70392940_70415195	70413191	A A	ATGTATAT others(2025): Show ATGTATATATATGTGTGTATATATACATATATGTATATGTATATGTGTAT ATATGCATATATGTATATGCATATGTGTATATATGCATATATGTATATGC ATATGTGTATATATGCATATATGTATATGCATATGTGTGTATATGCATAT ATGTATATGCATATGTGTGTATATATACATATATATGTATATGCATATGT GTGTATATATACATATATATGTATATGCATATGTGTGTATATATACATAT ATATGTATATGCATATGTGTGTATATATACATATATATGTATATGCATAT GTGTGTGTATATACATATATATGTATATGCATATGTGTGTGTATATACAT ATATATGTATATGCATATGTGTGTGTATATACATATATATGTATATGCAT ATGTGTGTGTATATACATATATATGTATATGCATATGTGTGTGTATATAC ATATATATGTATATGCATATGTGTGTGTATATACATATATATGTATATGC ATATGTGTATATACATATATGTATATGCATATGTGTATATACATATATGT ATATGCATGTGTGTATATACATATATGTATATGCATATGTGTGTATATAC ATATATGTATATGCATATGTGTGTATATACATATATATGTATATGCATAT GTGTGTATATATACATATATATGTATATGCATATGTGTGTGTATATACAT ATATATGTATATGCATATGTGTGTGTATATACATATATATGTATATGCAT ATGTGTGTGTATATACATATATATGTATATGCATATGTGTGTGTATATAC ATATATGTATATGCATATGTGTGTGTATATACATATATATGTATATGCAT ATGTGTGTGTATATACATATATATGTATATGCATATGTGTGTGTATATAC ATATATATGTATATGCATATGTGTGTGTATATACATATATATGTATATGC ATATGTGTGTGTATATACATATATATGTATATGCATATGTGTGTGTATAT ACATATATATGTATATGCATATGTGTGTGTATATACATATATATGTATAT GCATATGTGTGTGTATATACATATATGTATATGCATGTGTGTATATACAT ATATGTATATGCATATGTGTGTATATACATATATGTATATGCATATGTGT GTATATACATATATATGTATATGCATATGTGTGTATATATACATATATAT GTATATGCATATGTGTGTGTATATACATATATATGTATATGCATATGTGT GTGTATATACATATATATGTATATGCATATGTGTGTGTATATACATATAT ATGTATATGCATATGTGTGTGTATATACATATATATGTATATGCATATGT GTGTGTATATACATATATGTATATGCATATGTGTGTATATATACATATAT ATGTATATGCATATGTGTGTGTATATACATATATATGTATATGCATATGT GTGTGTATATACATATATATGTATATGCATATGTGTGTGTATATACATAT ATGTATATGCATATGTGTGTACATACATATATATGTATATGCATATGTGT GTATATATACATATATATGTATATGCATATGTGTGTATATATACACATAT ACATATATATGCATATGTGTGTATATATACATATACATATATATGCATAT ATGTGTATACATATACATATATATGCATATATGTGTATACATATACATAT ATATGCATATGTGTGTATGTATACATATACATATATATGCATATGTGTGT ATATATACATATACATATATATGCATATATGTGTATATATACATATACAT ATATATGCATATATGTGTATATATACATATACATATATATGCATATATGT GTATACATATACATATATATGCATATATGTGTATACATATACATATATAT GCATATATGTGTATACATATACATATATATGCATATATGTGTATACATAT ACATATATATGCATATATGTGTATACATATACATATATGTGTGTGTATAT ATGTGTGTGTATATATACACATATATATGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	456	0.0022	2032	c.31 others(2043): Show c.3116_*3117insTGTATATATATGTGTGTATATATACATATATGTA TATGTATATGTGTATATATGCATATATGTATATGCATATGTGTATATATG CATATATGTATATGCATATGTGTATATATGCATATATGTATATGCATATG TGTGTATATGCATATATGTATATGCATATGTGTGTATATATACATATATA TGTATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTG TGTATATATACATATATATGTATATGCATATGTGTGTATATATACATATA TATGTATATGCATATGTGTGTGTATATACATATATATGTATATGCATATG TGTGTGTATATACATATATATGTATATGCATATGTGTGTGTATATACATA TATATGTATATGCATATGTGTGTGTATATACATATATATGTATATGCATA TGTGTGTGTATATACATATATATGTATATGCATATGTGTGTGTATATACA TATATATGTATATGCATATGTGTATATACATATATGTATATGCATATGTG TATATACATATATGTATATGCATGTGTGTATATACATATATGTATATGCA TATGTGTGTATATACATATATGTATATGCATATGTGTGTATATACATATA TATGTATATGCATATGTGTGTATATATACATATATATGTATATGCATATG TGTGTGTATATACATATATATGTATATGCATATGTGTGTGTATATACATA TATATGTATATGCATATGTGTGTGTATATACATATATATGTATATGCATA TGTGTGTGTATATACATATATGTATATGCATATGTGTGTGTATATACATA TATATGTATATGCATATGTGTGTGTATATACATATATATGTATATGCATA TGTGTGTGTATATACATATATATGTATATGCATATGTGTGTGTATATACA TATATATGTATATGCATATGTGTGTGTATATACATATATATGTATATGCA TATGTGTGTGTATATACATATATATGTATATGCATATGTGTGTGTATATA CATATATATGTATATGCATATGTGTGTGTATATACATATATGTATATGCA TGTGTGTATATACATATATGTATATGCATATGTGTGTATATACATATATG TATATGCATATGTGTGTATATACATATATATGTATATGCATATGTGTGTA TATATACATATATATGTATATGCATATGTGTGTGTATATACATATATATG TATATGCATATGTGTGTGTATATACATATATATGTATATGCATATGTGTG TGTATATACATATATATGTATATGCATATGTGTGTGTATATACATATATA TGTATATGCATATGTGTGTGTATATACATATATGTATATGCATATGTGTG TATATATACATATATATGTATATGCATATGTGTGTGTATATACATATATA TGTATATGCATATGTGTGTGTATATACATATATATGTATATGCATATGTG TGTGTATATACATATATGTATATGCATATGTGTGTACATACATATATATG TATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTG TATATATACACATATACATATATATGCATATGTGTGTATATATACATATA CATATATATGCATATATGTGTATACATATACATATATATGCATATATGTG TATACATATACATATATATGCATATGTGTGTATGTATACATATACATATA TATGCATATGTGTGTATATATACATATACATATATATGCATATATGTGTA TATATACATATACATATATATGCATATATGTGTATATATACATATACATA TATATGCATATATGTGTATACATATACATATATATGCATATATGTGTATA CATATACATATATATGCATATATGTGTATACATATACATATATATGCATA TATGTGTATACATATACATATATATGCATATATGTGTATACATATACATA TATGTGTGTGTATATATGTGTGTGTATATATACACATATATATGTGTG	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		2997		chr4	TogoVar
PRKX_chrX_3599340_3718649	3639432	T T	TGGGGGTG others(2025): Show TGGGGGTGGATGGATGAAGGGGTGGGGTGGTAGATGGATGAAGGGGTGGG GGGGGTGGATGGATGAAGGGGTGGGGGGGGTGGATGGATGAAGGGGTGGG GGGGTGGATGGATGAAGGGGTGGGGGGGGTGGATGGATGAAGGGGTGGGG GGGTCGGGGGGTGGATGGATGAAGGGTGGGTGGATGGATGATTGAATGAA GGGGTGGGGGTGGATGGATGAAGGGGTGGGGTGGTAGATGGATGAAGGGG TAGAGGGGTGGGGGGGTGGGGGGGTGGGTGCATGGATGGATGAAGGGGTG GGGGTGGATGGATGAAGGGGTGGGGGGGTGGATGGATGAAGGGGTGGGGG GGGTGGATGGATGAAGGGGTGGGGGGGTGGGGGGGTGGGGGGGTGGATGG ATGAAGGGGTGGGGGGGTGGATGGATGAAGGGGTGGGGGGGGTGGATGGA TGAAGGGGTGGGGTGGTAGATGGATGAAGGGGTGGGGGGGGTGGATGGAT GAAGGGGTGGGGGGGGTGGATGGATGAAGGGGTGGGGGGGTGGATGGATG AAGGGGTGGGGGGGGTGGATGGATGAAGGGGTGGGGGGGTCGGGGGGTGG ATGGATGAAGGGGTGGGGGGGTGGGGGGGTGGGGGGTGGATGGATGAAGG GGTGGGGGGGTGGATGGATGAAGGGGTGGGGGGGGTGGATGGATGAAGGG GTGGGGGGGGTGGATGGATGAAGGGGTGGGGGGGTGGATGGATGAAGGGG TGGGGGGGGTGGATGGATGAAGGGGTGGGGGGGTGGATGGATGAAGGGGT GGGGGGGGTGGATGGATGAAGGGGTGGGGGGGGTGGATGGATGAAGGGGT GGGGGGGGTGGATGGATGAAGGGGTGGGGGGGTGGATGGATGAAGGGGTG GGGGGGGTGGATGGATGAAGGGGTGGGGGGTGGATGGATGAAGGGGTGTG GGGGTGGATGGATGAAGGGGTGGGGGGGGTGGATGGATGAAGGGGTGGGG GGTGGATGGATGAAGGGGTGTGGGGGTGGATGGATGAAGGGGTGGGGGGG GTGGATGGATGAAGGGGTGGGGGGGGTGGATGGATGAAGGGGTGGGGGGG GTGGATGGATGAAGGGGTGGGGGGGGTGGATGGATGAAGGGGTGTGGGGG TGGATGGATGAAGGGGTGGGGGGGGTGGATGGATGAAGGGGTGGGGGGGT GGATGGATGAAGGGGTGGGGGGGGTGGATGGATGAAGGGGTGGGGGGGTC GGGGGGTGGATGGATGAAGGGGTGGGGGGTGGATGGATGAAGGGGTGTGG GGGTGGATGGATGAAGGGGTGGGGGGGGTGGATGGATGAAGGGGTGGGGG GGGTGGATGGATGAAGGGGTGGGGGGGTGGATGGATGAACGGGTGGGGGG GGTGGATGGATGAAGGGGTGGGGGGGGTGGATGGATGAAGGGGTGGGGGG GTGGATGGATGAAGGGGTGGGGGGGTGGATGGATGAAGGGGTGGGGGGGG TGGATGGATGAAGGGGTGGGGGGGGTGGATGGATGAAGGGGTGGGGGGGT GGATGGATGAAGGGGTGGGGGGGGTGGATGGATGAAGGGGTGGGGGGGGT GGATGGATGAAGGGGTGGGGGGGTGGATGGATGAAGGGGTGGGGGGGTGG ATGGATGAAGGGGTGGGGGGGTGGATGGATGAAGGGGTGGGGGGGGTGGA TGGATGAAGGGGTGGGGGGGTGGATGGATGAAGGGGTGGGGGGGTGGATG GATGAAGGGGTGGGGGGGTGGATGGATGAAGGGGTGGGGGGGTGGATGGA TGAAGGGGTGGGGGGGGTGGATGGATGAAGGGGTGGGGGGGTGGATGGAT GAAGGGGTGGGGGGGTGGATGGATGAAGGGGTGGGGGGGGTGGATGGATG AAGGGGTGGGGGGGGTGGATGGATGAAGGGGTGGGGGGGTGGATGGATGA AGGGGTGGGGGGGGTGGATGGATGAAGGGGTGGGGGGGTGGATGGATGAA GGGGTGGGGGGGGTGGATGGATGAAGGGGTGGG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0047 a0001c0002t0047	a0001c0002t0047g0061 a0001c0002t0047g0061	1	227	0.0044	2032	c.719 others(2049): Show c.719+2419_719+2420insCCCACCCCTTCATCCATCCACCCCCCCC ACCCCTTCATCCATCCACCCCCCCACCCCTTCATCCATCCACCCCCCCCA CCCCTTCATCCATCCACCCCCCCACCCCTTCATCCATCCACCCCCCCCAC CCCTTCATCCATCCACCCCCCCCACCCCTTCATCCATCCACCCCCCCACC CCTTCATCCATCCACCCCCCCACCCCTTCATCCATCCACCCCCCCCACCC CTTCATCCATCCACCCCCCCACCCCTTCATCCATCCACCCCCCCACCCCT TCATCCATCCACCCCCCCACCCCTTCATCCATCCACCCCCCCACCCCTTC ATCCATCCACCCCCCCCACCCCTTCATCCATCCACCCCCCCACCCCTTCA TCCATCCACCCCCCCACCCCTTCATCCATCCACCCCCCCACCCCTTCATC CATCCACCCCCCCCACCCCTTCATCCATCCACCCCCCCCACCCCTTCATC CATCCACCCCCCCACCCCTTCATCCATCCACCCCCCCCACCCCTTCATCC ATCCACCCCCCCCACCCCTTCATCCATCCACCCCCCCACCCCTTCATCCA TCCACCCCCCCACCCCTTCATCCATCCACCCCCCCCACCCCTTCATCCAT CCACCCCCCCCACCCGTTCATCCATCCACCCCCCCACCCCTTCATCCATC CACCCCCCCCACCCCTTCATCCATCCACCCCCCCCACCCCTTCATCCATC CACCCCCACACCCCTTCATCCATCCACCCCCCACCCCTTCATCCATCCAC CCCCCGACCCCCCCACCCCTTCATCCATCCACCCCCCCCACCCCTTCATC CATCCACCCCCCCACCCCTTCATCCATCCACCCCCCCCACCCCTTCATCC ATCCACCCCCACACCCCTTCATCCATCCACCCCCCCCACCCCTTCATCCA TCCACCCCCCCCACCCCTTCATCCATCCACCCCCCCCACCCCTTCATCCA TCCACCCCCCCCACCCCTTCATCCATCCACCCCCACACCCCTTCATCCAT CCACCCCCCACCCCTTCATCCATCCACCCCCCCCACCCCTTCATCCATCC ACCCCCACACCCCTTCATCCATCCACCCCCCACCCCTTCATCCATCCACC CCCCCCACCCCTTCATCCATCCACCCCCCCACCCCTTCATCCATCCACCC CCCCCACCCCTTCATCCATCCACCCCCCCCACCCCTTCATCCATCCACCC CCCCCACCCCTTCATCCATCCACCCCCCCACCCCTTCATCCATCCACCCC CCCCACCCCTTCATCCATCCACCCCCCCACCCCTTCATCCATCCACCCCC CCCACCCCTTCATCCATCCACCCCCCCCACCCCTTCATCCATCCACCCCC CCACCCCTTCATCCATCCACCCCCCACCCCCCCACCCCCCCACCCCTTCA TCCATCCACCCCCCGACCCCCCCACCCCTTCATCCATCCACCCCCCCCAC CCCTTCATCCATCCACCCCCCCACCCCTTCATCCATCCACCCCCCCCACC CCTTCATCCATCCACCCCCCCCACCCCTTCATCCATCTACCACCCCACCC CTTCATCCATCCACCCCCCCCACCCCTTCATCCATCCACCCCCCCACCCC TTCATCCATCCACCCCCCCACCCCCCCACCCCCCCACCCCTTCATCCATC CACCCCCCCCACCCCTTCATCCATCCACCCCCCCACCCCTTCATCCATCC ACCCCCACCCCTTCATCCATCCATGCACCCACCCCCCCACCCCCCCACCC CTCTACCCCTTCATCCATCTACCACCCCACCCCTTCATCCATCCACCCCC ACCCCTTCATTCAATCATCCATCCACCCACCCTTCATCCATCCACCCCCC GACCCCCCCACCCCTTCATCCATCCACCCCCCCCACCCCTTCATCCATCC ACCCCCCCACCCCTTCATCCATCCACCCCCCCCACCCCTTCATCCATCCA CCCCCCCCACCCCTTCATCCATCTACCACCCCACCCCTTCATCCATCCAC CCCC	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8			chrX	TogoVar
PRR5L_chr11_36291288_36470204	36309624	C C	CATGATGG others(2025): Show CATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGA TGATGGTGGTGGTGGTAGTGGGGATGGTGGTGGTGGTGGTATTGGGGATG ATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTAGTGGGGATGAT GGTGGTGGTGGTAATGGGGATGGTGGTGGTGGTATTGGGGATGATGGTGG TGGTGGTAGTGGGGATGGTAGTGGTGATGGTAGTGGGGATGGTGGTGGTG GTATTGGGGATGATGGGTGGTGGTATTGGGGATGATGGTGGTGGTGGCAG TGGGGATGGTGGTGGTGGTGGTAGTGGGGATGGTGGTGGTGGCATTGGGG TTGATGGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTATTGGGGATGA TGCTGCTGGTGGTATTGGGGATGATGGTGGTGGTGGTATTGGGGATGATG CTGCTGGTGGTATTGGGGATGATGGCGGTGGTGGTATTGGGGATGATGGT GGTGGTGGTAGTGAGCATGATGGTGGTGGTGGTAGTGGGGATGATGGTGG TGGTGGTATTGGGGATGATGGTGGTGGTGGTAGTGAGCATGATGGTGGTG GTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGT GGTAGTGAGCATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGG TATTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTA TTGGGGATGATGGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTATTGG GGATGATGGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGAT GATGGTGGTGGTGGTAGTGAGCATGATGGTGGTGGTGGTATTGGGGATGA TGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATG GTGGTGGTGGTAGTGGGGATGATTGTGGTGGTGGTAGTGGGGATGATGGT GGTGGTGGTATTGGGGATGATGGTGGTGGTGGTATTGGAGATGATGGTGG TGGTGGTAGTGAGGATGATGGTGGTGGTGGTAGTGGGGATGATGGGTGGT GATATTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGG TAGTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTA TTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTATT GGGGATGCTGGTGGTGGTATTGGCGATGATGGTGGTGGTGGTATTGGGGA TGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTATTGGGGATG ATGGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGG GTGGTGGTAGTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGT GGTGGTAGTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGG TGGTATTGGGGATGATGGTGGTGGTGGTATTGGAGATGATGGTGGTGGTG GTAGTGAGGATGATGGTGGTGGTGGTAGTGGGGATGATGGGTGGTGATAT TGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTAGTG GGGATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTAGTGGG GATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGA TGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTAGTGGGGATG ATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTATTGGAGATGAT GGTGGTGGTGGTAGTGAGGATGATGGTGGTGGTGGTAGTGGGGATGATGG GTGGTGATATTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGT GGTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGGTGGTG GTATTGGAGATGATGGTGGTGGTGGTAGTGAGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0062 a0001c0002t0005g0062	1	272	0.0037	2032	c.-12 others(2053): Show c.-126+13216_-126+13217insGTGGTGGTGGTATTGGGGATGATG GTGGTGGTGGTAGTGGGGATGGTGGTGGTGGTGGTATTGGGGATGATGGT GGTGGTGGTATTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGTGG TGGTGGTAATGGGGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTG GTAGTGGGGATGGTAGTGGTGATGGTAGTGGGGATGGTGGTGGTGGTATT GGGGATGATGGGTGGTGGTATTGGGGATGATGGTGGTGGTGGCAGTGGGG ATGGTGGTGGTGGTGGTAGTGGGGATGGTGGTGGTGGCATTGGGGTTGAT GGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGCTG CTGGTGGTATTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGCTGCT GGTGGTATTGGGGATGATGGCGGTGGTGGTATTGGGGATGATGGTGGTGG TGGTAGTGAGCATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTG GTATTGGGGATGATGGTGGTGGTGGTAGTGAGCATGATGGTGGTGGTGGT AGTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTAG TGAGCATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTATTG GGGATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTATTGGG GATGATGGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGATG ATGGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGG TGGTGGTGGTAGTGAGCATGATGGTGGTGGTGGTATTGGGGATGATGGTG GTGGTGGTAGTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGT GGTGGTAGTGGGGATGATTGTGGTGGTGGTAGTGGGGATGATGGTGGTGG TGGTATTGGGGATGATGGTGGTGGTGGTATTGGAGATGATGGTGGTGGTG GTAGTGAGGATGATGGTGGTGGTGGTAGTGGGGATGATGGGTGGTGATAT TGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTAGTG GGGATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTATTGGG GATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGA TGCTGGTGGTGGTATTGGCGATGATGGTGGTGGTGGTATTGGGGATGATG GTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGG TGGTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGGTGGT GGTAGTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGG TAGTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTA TTGGGGATGATGGTGGTGGTGGTATTGGAGATGATGGTGGTGGTGGTAGT GAGGATGATGGTGGTGGTGGTAGTGGGGATGATGGGTGGTGATATTGGGG ATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTAGTGGGGAT GATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTAGTGGGGATGA TGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGATGATG GTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGT GGTGGTGGTATTGGGGATGATGGTGGTGGTGGTATTGGAGATGATGGTGG TGGTGGTAGTGAGGATGATGGTGGTGGTGGTAGTGGGGATGATGGGTGGT GATATTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGG TAGTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGGTGGTGGTATT GGAGATGATGGTGGTGGTGGTAGTGAGGATGATGGTGGTGGTGGTAGTGG GGATGATG	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
SDK1_chr7_3296252_4274000	3976616	C C	CCACGCAG others(2025): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGC TGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGG CTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGG GCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGG GGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCG GGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCC GGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCC CGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTC CCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGT CCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGG TCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGG GTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAG GGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGA GGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTG AGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGATCCTCCAGAGAATCACT GAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCAC TGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCCCTCCA GAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCCCTCC AGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTC CAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCT CCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCC TCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTC CTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGT CCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGG TCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGG ATCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0014 a0014	a0014c0083 a0014c0083	a0014c0083t0044 a0014c0083t0044	a0014c0083t0044g0004 a0014c0083t0044g0004	1	116	0.0086	2032	c.199 others(2051): Show c.1994+2071_1994+2072insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCC AGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTC CAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCT CCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCC TCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTC CTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGT CCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGG TCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGG GTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAG GGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGA GGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAG AGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCA GAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGC AGAGGATCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCAC GCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCC ACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGC CACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTG CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGC TGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGG CTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGG GCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGG GGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCG GGGCTGAGGCTGCCACGCAGAGGATCCTCCAGAGAATCACTGAGGGTCCC GGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	4083708	T T	TCCTCCCT others(2025): Show TCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCTTCCCTCC CTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTCCTTTACT TCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCC CTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACT TCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCC CTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACT TCCTCCCTCCCTCCTTTACTTCTTCCCTCCCTCCTTTACTTCCTCCCTCC CTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTTCTTTACTTCCT CCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCTTCCCTCCCTCC TTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCT CCCTCCCTTCTTTACTTCCTCCCTTCTTTACTTCTTCCCTCCCTCCTTTA CTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCT TCTTTACTTCTTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTC CTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCT TCTTTACTTCTTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTC CTCCCTCCCTTCTTTACTTCCTCCCTTCTTTACTTCTTCCCTCCCTCCTT TACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCC CTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCTTCCCTCCCTCCTT TACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCC CTTCTTTACTTCTTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACT TCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCC CTCCTTTACTTCTTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACT TCCTCCCTCCCTTCTTTACTTCCTCCCTCCTTTACTTCTTCCCTCCCTCC TTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCT CCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCTTCCCTCCCTCC TTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCT CCCTTCTTTACTTCTTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTA CTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCT CCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTA CTTCCTCCCTTCTTTACTTCTTCCCTCCCTCCTTTACTTCCTCCCTCCCT CCTTTACTTCCTCTCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTC CTCCCTCCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCT CCTTTACTTCCTCTCTCCCTTCTTTACTTCCTCCCTTCTTTACTTCTTCC CTCCTTTACTTCCTCTCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACT TCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCTTCCCTCC CTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACT TCCTCCCTTCTTTACTTCTTCCCTCCCTCCTTTACTTCCTCCCTCCCTCC TTTACTTCCTCCCTTCTTTACTTCCTCCCTTCTTTACTTCTTCCCTCCCT CCTTTACTTCCTCTCTCCCTTCTTTACTTCCTCTCTCCCTTCTTTACTTC CTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCT CCTTTACTTCCTCCCTCCCTCCTTTACTTGCTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0084 a0001c0002t0040g0084	1	116	0.0086	2032	c.332 others(2051): Show c.3324+4149_3324+4150insCTCCCTTCTTTACTTCTTCCCTCCCT CCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTC CTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCT TCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTC CTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCT CCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTC CTCCCTCCCTCCTTTACTTCTTCCCTCCCTCCTTTACTTCCTCCCTCCCT CCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTTCTTTACTTCCTCC CTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCTTCCCTCCCTCCTT TACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCC CTCCCTTCTTTACTTCCTCCCTTCTTTACTTCTTCCCTCCCTCCTTTACT TCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTTC TTTACTTCTTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCT CCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTC TTTACTTCTTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCT CCCTCCCTTCTTTACTTCCTCCCTTCTTTACTTCTTCCCTCCCTCCTTTA CTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCT CCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCTTCCCTCCCTCCTTTA CTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCT TCTTTACTTCTTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTC CTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCT CCTTTACTTCTTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTC CTCCCTCCCTTCTTTACTTCCTCCCTCCTTTACTTCTTCCCTCCCTCCTT TACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCC CTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCTTCCCTCCCTCCTT TACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCC CTTCTTTACTTCTTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACT TCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCC CTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACT TCCTCCCTTCTTTACTTCTTCCCTCCCTCCTTTACTTCCTCCCTCCCTCC TTTACTTCCTCTCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCT CCCTCCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCC TTTACTTCCTCTCTCCCTTCTTTACTTCCTCCCTTCTTTACTTCTTCCCT CCTTTACTTCCTCTCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTC CTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCTTCCCTCCCT CCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTC CTCCCTTCTTTACTTCTTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTT TACTTCCTCCCTTCTTTACTTCCTCCCTTCTTTACTTCTTCCCTCCCTCC TTTACTTCCTCTCTCCCTTCTTTACTTCCTCTCTCCCTTCTTTACTTCCT CCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCC TTTACTTCCTCCCTCCCTCCTTTACTTGCTCCCTCCCTCCCTTCTTTACT TCCTCC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	22/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPATC1L_chr21_46156160_46189459	46170550	T T	TGGAGGAG others(2025): Show TGGAGGAGCCCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCC CCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCCCTGCTCTGTGA GCATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGTACATCCTCTGT GGATGGGGAGGAGCCCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGG AGCCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCCCCTGCTC TGTGAGCATCCTCTGTGGATGGGGAGGAGCCCCTGCTCTGTGAGCATCCT CTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAACATCCTCTGTGGATGGG GAGGAGCCCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCCCT GCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCTGCTCTGTGAGCA TCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGTGGA TGGGGAGGAGCCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCC TCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCCCCTGCTCTGT GAACATCCTCTGTGGATGGGGAGGAGCCCCCTATTCTGTGAACATCCTCT GTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCGTGGATGGGGAG GAGCCCCCTGCTCTGTGAACATCCTCTGTGGATGGGGAGGAGCCTCCCTG CTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCA TCCTCTGTGGATGGGGAGGAGCCCCCTGCTCCGTGAACATCCTCTGTGGA TGGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGC CTCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCT GTGAGCATCCTCTGTGGTCCAGGAGGAGCCTCCTGCTCTGTGAACATCCT CTGTGGATGGGGAGGAGCCTCCCTGCTCTGTGAGCATCCTCTGTGGATGG GGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGTGCTCCAGGAGGAGCCTC CTTCTCTGTGAACATCCTCTGTGGATGTGGAGGAGCCCCCTGCTCTGTGA ACATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGT GGATGGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGTGGTCCAGGAGG AGCCTCCTGCTCTGTGAACATCCTCTGTGGATGGGGAGGAGCCCCCTGCT CTGTGAACATCCTCTGTGGATGGGGAGGAGCCCCCTACTCTGTGAACATC CTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGTGGATG GGGAGGAGCCTCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCC TCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCCTGCTCT GTGAACATCCTCTGTGGATGGGGAGGAGCCTCCCTGCTCTGTGAACATCC TCTGTGGATAGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGTGGTCCA GGAGGAGCCTCCTGCTCTGTGAACATCCTCTGTGGATGGGGAGGAGCTTC CCTGCTCTGTGAACATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTG AGCATCCTCTGTGGTCCAGGAGGAGCCTCCTGCTCTGTGAACATCCTCTG TGGATGGGGAGGAGCCCCCTGCTCTGTGAACATCCTCTGTGGATGGGGAG GAGCCTCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCCCCTAC TCTGTGAACATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCAT CCTCTGTGGATGGGGAGGAGCCTCCCTGCTCTGTGAGCATCCTCTGTGGA TGGGGAGGAGCCTCCCTGCTCTGTGAACATCCTCTGTGGATGGGGAGGAG CCTCCCTGCTCTGTGAACATCCTCTGTGGATAG	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	251	0.0040	2032	c.194 others(2049): Show c.194-1893_194-1892insCTATCCACAGAGGATGTTCACAGAGCAG GGAGGCTCCTCCCCATCCACAGAGGATGTTCACAGAGCAGGGAGGCTCCT CCCCATCCACAGAGGATGCTCACAGAGCAGGGAGGCTCCTCCCCATCCAC AGAGGATGCTCACAGAGCAGGAGGCTCCTCCCCATCCACAGAGGATGTTC ACAGAGTAGGGGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCAGGA GGCTCCTCCCCATCCACAGAGGATGTTCACAGAGCAGGGGGCTCCTCCCC ATCCACAGAGGATGTTCACAGAGCAGGAGGCTCCTCCTGGACCACAGAGG ATGCTCACAGAGCAGGAGGCTCCTCCCCATCCACAGAGGATGTTCACAGA GCAGGGAAGCTCCTCCCCATCCACAGAGGATGTTCACAGAGCAGGAGGCT CCTCCTGGACCACAGAGGATGCTCACAGAGCAGGAGGCTCCTCCCTATCC ACAGAGGATGTTCACAGAGCAGGGAGGCTCCTCCCCATCCACAGAGGATG TTCACAGAGCAGGGAGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGC AGGGAGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCAGGGAGGCTC CTCCCCATCCACAGAGGATGCTCACAGAGCAGGAGGCTCCTCCCCATCCA CAGAGGATGTTCACAGAGTAGGGGGCTCCTCCCCATCCACAGAGGATGTT CACAGAGCAGGGGGCTCCTCCCCATCCACAGAGGATGTTCACAGAGCAGG AGGCTCCTCCTGGACCACAGAGGATGCTCACAGAGCAGGAGGCTCCTCCC CATCCACAGAGGATGCTCACAGAGCAGGAGGCTCCTCCCCATCCACAGAG GATGTTCACAGAGCAGGGGGCTCCTCCACATCCACAGAGGATGTTCACAG AGAAGGAGGCTCCTCCTGGAGCACAGAGGATGCTCACAGAGCAGGAGGCT CCTCCCCATCCACAGAGGATGCTCACAGAGCAGGGAGGCTCCTCCCCATC CACAGAGGATGTTCACAGAGCAGGAGGCTCCTCCTGGACCACAGAGGATG CTCACAGAGCAGGAGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCA GGGAGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCAGGAGGCTCCT CCCCATCCACAGAGGATGTTCACGGAGCAGGGGGCTCCTCCCCATCCACA GAGGATGCTCACAGAGCAGGAGGCTCCTCCCCATCCACAGAGGATGCTCA CAGAGCAGGGAGGCTCCTCCCCATCCACAGAGGATGTTCACAGAGCAGGG GGCTCCTCCCCATCCACGAGGATGCTCACAGAGCAGGAGGCTCCTCCCCA TCCACAGAGGATGTTCACAGAATAGGGGGCTCCTCCCCATCCACAGAGGA TGTTCACAGAGCAGGGGGCTCCTCCCCATCCACAGAGGATGCTCACAGAG CAGGAGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCAGGGGCTCCT CCCCATCCACAGAGGATGCTCACAGAGCAGGAGGCTCCTCCCCATCCACA GAGGATGCTCACAGAGCAGAGGCTCCTCCCCATCCACAGAGGATGCTCAC AGAGCAGGGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCAGGGGGC TCCTCCCCATCCACAGAGGATGTTCACAGAGCAGGAGGCTCCTCCCCATC CACAGAGGATGCTCACAGAGCAGGGGCTCCTCCCCATCCACAGAGGATGC TCACAGAGCAGGGGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCAG GGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCAGGGGGCTCCTCCC CATCCACAGAGGATGTACACAGAGCAGGAGGCTCCTCCCCATCCACAGAG GATGCTCACAGAGCAGGGGCTCCTCCCCATCCACAGAGGATGCTCACAGA GCAGGGGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCAGGGGGCTC CTCC	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/4			chr21	TogoVar
TWIST2_chr2_238843085_238915534	238870216	A A	ACACACAC others(2025): Show ACACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACACCCCACACACACCACACCCTACACACACCACACCCCAC ACACACCACACCCCATACACACCACACCCCACACACACCACACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACCCCACAC ACACCACACACCCCACACACACCACACCCTACACACACCACACCCCACAC ACACCACACCCCATACACACCACACCCCACACACACCACACACCCCACAC ACACCACACCCCACACACACCACACCCCACACACACCACACCCCACACAC ACCACACACCCCACACACACCACACCCCACACACACCACACCCCACACAC ACCACACCCCACACACACCACACACCCCACACACACCACACCCCACACAC ACCACACCCCACACACACCACACCCCACACACACCACACCCCACACACAC CACACACCCCACACACACCACACCCTACACACACCACACCCCACACACAC CACACCCCATACACACCACACCCCACACACACCACACACCCCACACACAC CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCACACACACCACACACCCCACACACACCACACCCTACACACACCA CACCCCACACACACCACACCCCATACACACCACACCCCACACACACCACA CACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACA CCCCACACACACCACACCCTACACACACCACACCCCACACACACCACACC CCATACACACCACACCCCACACACACCACACACCCCACACACACCACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACCCCATACACACCACACCCCACACACACCACACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACCCCACAC ACACCACACCCCACACACACCACACCCCACACACACCACACCCCACACAC ACCACACACCCCACACACACCACACCCCACACACACCACACCCCACACAC ACCACACCCCACACACACCACACCCCACACACACCACACACCCCACACAC ACCACACCCCACACACACCACACCCCACACACACCACACCCCACACACAC CACACCCCACACACACACCACACCCCACACACACCACACCCCACACACAC CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACA CACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACCCCACACACACCACACCC	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	338	0.0030	2032	c.35 others(2051): Show c.35+21490_*35+21491insCACACCCCACACACACCACACCCCAC ACACACCACACCCCACACACACCACACACCCCACACACACCACACCCTAC ACACACCACACCCCACACACACCACACCCCATACACACCACACCCCACAC ACACCACACACCCCACACACACCACACCCCACACACACCACACCCCACAC ACACCACACCCCACACACACCACACACCCCACACACACCACACCCTACAC ACACCACACCCCACACACACCACACCCCATACACACCACACCCCACACAC ACCACACACCCCACACACACCACACCCCACACACACCACACCCCACACAC ACCACACCCCACACACACCACACACCCCACACACACCACACCCCACACAC ACCACACCCCACACACACCACACCCCACACACACCACACACCCCACACAC ACCACACCCCACACACACCACACCCCACACACACCACACCCCACACACAC CACACCCCACACACACCACACACCCCACACACACCACACCCTACACACAC CACACCCCACACACACCACACCCCATACACACCACACCCCACACACACCA CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCTACACACACCACACCCCACACACACCACACCCCATACACACCACA CCCCACACACACCACACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACACCCCACACACACCACACCCTACACACACCACACC CCACACACACCACACCCCATACACACCACACCCCACACACACCACACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACCCCACACACACCACACACCCC ACACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACCCCACACACACCACACACCCCACACACACCACACCCCAC ACACACCACACCCCACACACACCACACACCCCACACACACCACACCCCAC ACACACCACACCCCACACACACCACACCCCATACACACCACACCCCACAC ACACCACACACCCCACACACACCACACCCCACACACACCACACCCCACAC ACACCACACCCCACACACACCACACCCCACACACACCACACCCCACACAC ACCACACCCCACACACACCACACACCCCACACACACCACACCCCACACAC ACCACACCCCACACACACCACACCCCACACACACCACACCCCACACACAC CACACACCCCACACACACCACACCCCACACACACCACACCCCACACACAC CACACCCCACACACACCACACCCCACACACACACCACACCCCACACACAC CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACCCCACACACACCACACACCCCACACACACCACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACCCC ACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
VNN1_chr6_132675849_132719055	132706868	C C	CAAAAGAA others(2025): Show CAAAAGAAGTTATACAGCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CGTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCGTCTCCC TCTCCCCACGGTCTCCCTCTCATGCGGAACCGAAGCTGGACTGTACTGCT GCCATCTCGGCTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGTCT GCCGAATGCCTGCGATTGCAGGCACGCGCCGCCACGCCTGACTGGTTTTG GTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCCGGTCTCCAGCCCCTGGC CGCGAGTGATCCGCCAACCTCGGCCTCCCGAGGTGCCGGGATTGCAGACG GAGTCTCGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGC GTGATCTCGGCTCACTACAACCTACACCTCCCAGCCGCCTGCCTTGGCCT CCCAAAGTGCCGAGATTGCAGCCTCTGCCCAGCCGCCACCCCGTCTGGGA AGTGAGGAGTGTCTCTGCCTGGCCGCCCATTGTCTGGGATGTGAGGAGCC CCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCCGCCCGGCC GCCATCCCATCTAGGAAGTGAGGAGCCCTCTTCCCAGCCGCCATCACATC TAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGG GAGCGCCTCTGCCCCGCCGCCCCATCTGGGATGTGAGGAGCGCCTCTGCC CGGCCGAGACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCCGCCCC GTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAACCACCCCGTCTGAGAAG TGAGGAGCCCCTCCGCCCGGCAGCTGCCCCCTCTGAGAAGTGAGGAGCCT CTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCGTCTCCGCCCGG CAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGTGTCAGCCCCCCACCCGGCTAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCACCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCCTCTGGGAGGGAGGTTGGGGGGTCAGCCCCCCTGCC CGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAG GTGTGCCCAACAGCTCATTGAGAATGGGCCGGGATGACAATGGCGGCTTT GTGGAGTAGAAAGGCGGGAAAGGTGGGGAAGGGATTGAGAAGTCGGATGG TTGCCGTGTCTGTGTGGAAGGAAGTGGACATGGGAGACTTTTCATTTTGT TCTGCACTGGGAGAAATTCCTCTGCCTTGGGATCCTGTTGATCTGTGACC TTGCCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGT TAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGA AGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTAATCTCAAGTAATC AGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACC AGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTC CCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATTATCAA TAAAAAAATAAATTTAAATAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0003 a0008c0010t0003	a0008c0010t0003g0138 a0008c0010t0003g0138	1	418	0.0024	2032	c.341 others(2049): Show c.341+4840_341+4841insTTTTTTTTTTTTTTATTTAAATTTATTT TTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGT CATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGG TCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTG TCCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGC TGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCC ATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGG GGCAAGGTCACAGATCAACAGGATCCCAAGGCAGAGGAATTTCTCCCAGT GCAGAACAAAATGAAAAGTCTCCCATGTCCACTTCCTTCCACACAGACAC GGCAACCATCCGACTTCTCAATCCCTTCCCCACCTTTCCCGCCTTTCTAC TCCACAAAGCCGCCATTGTCATCCCGGCCCATTCTCAATGAGCTGTTGGG CACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCAGGGGGGCTGACCCCCCAACCTCCCTCCCAGAGGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTAGCCGGGTGGGGGGCTGACACCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGT GGCTGCCGGGCGGAGACGCTCCTCACTTCCCAGATGGGGTGGCTGCCGGG CGGAGAGGCTCCTCACTTCTCAGAGGGGGCAGCTGCCGGGCGGAGGGGCT CCTCACTTCTCAGACGGGGTGGTTGCCAGGCAGAGGGTCTCCTCACTTCT CAGACGGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCAGACGGGGTCTC GGCCGGGCAGAGGCGCTCCTCACATCCCAGATGGGGCGGCGGGGCAGAGG CGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACT TCCTAGATGTGATGGCGGCTGGGAAGAGGGCTCCTCACTTCCTAGATGGG ATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGC AGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCC TCACTTCCCAGACGGGGTGGCGGCTGGGCAGAGGCTGCAATCTCGGCACT TTGGGAGGCCAAGGCAGGCGGCTGGGAGGTGTAGGTTGTAGTGAGCCGAG ATCACGCCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAACGA GACTCCGTCTGCAATCCCGGCACCTCGGGAGGCCGAGGTTGGCGGATCAC TCGCGGCCAGGGGCTGGAGACCGGCCCGGCCAACACAGCGAAACCCCGTC TCCACCAAAACCAGTCAGGCGTGGCGGCGCGTGCCTGCAATCGCAGGCAT TCGGCAGACTGAGGCAGGAGAATCAGGCAGGGAGGTTGCAGTGAGCCGAG ATGGCAGCAGTACAGTCCAGCTTCGGTTCCGCATGAGAGGGAGACCGTGG GGAGAGGGAGACGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGACGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGCTGTATAACTTC TTTT	VNN1	ENSG00000112299.8	transcript	ENST00000367928.5	protein_coding	2/6			chr6	TogoVar
ZFPM1_chr16_88448280_88542031	88501132	G G	GGGCCCTC others(2025): Show GGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCG GGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGATGCG GAGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGC GGGGGCCCTCCCGCAGGTGCTGGTGATGATAGAGATAGCAGACATGGGTG CGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTG CGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGATG CGGAGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGT GCGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGT GCGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGG TGCGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGG GTGCGGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATG GGTGCGGGGGCTCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACAT GGGTGCATGGGCTCTCCCGCAGGTACTGGTGATGATGGAGATAGCAGACA TGGGTGCATGGGCTCTCCCGCAGGTACTGGTGATGATGGAGATAGTGGGC CTGGGTGCGGGGGCCCTCCCGCAGGTGCTGGTGATGATAGAGATAGCAGA CATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAG ACATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCA GACATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGC AGACATGGGTGCGTGGGCTCTCCCGCAGGTGCTGGTGATGATGGAGATAG CAGACATGGATGCGTGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATA GCAGACATGGGTGCAGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGAT AGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGA TAGCAGACATGGGTGCGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGA TAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAG ATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGATGATGGA GATAGCAGACATGGGTGCGGGGCCCTCCCGCAGGTGCTGGTGATGATGGA GATAGCAGACATGGGTGCGGGGGCTCTCCCGCAGGTGCTGGTGATGATGG AGATAGCAGACATGGGTGCGGGGGCTCTCCCGCAGGTGCTGGTGATGATA GAGATAGCAGACATGGGTGCATGGGCTCTCCCGCAGGTACTGGTGATGAT GGAGATAGCAGACATGGGTGCATGGGCTCTCCCGCAGGTACTGGTGATGA TGGAGATAGCGGGCCTGGGTGCGGGGGCCCTCCCGCAGGTACTGGTGATG ATAGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGAT GATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGA TGATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTG ATGATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTGGT GATGATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTGG TGATGATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTG GTGATGATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCT GGTGATGATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGC TGGTGATGATGGAGATCCAGACATGGGTGCGTGGGCCATCCCGCAGGTGC TGGTGATGATGGAGATAGCAGACATGGGTGCGT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0009 a0005c0007t0009	a0005c0007t0009g0308 a0005c0007t0009g0308	1	318	0.0031	2032	c.268 others(2051): Show c.268+11981_268+11982insCCCTCCCGCAGGTGCTGGTGATGATG GAGATAGCAGACATGGGTGCGGGGCCCTCCCGCAGGTGCTGGTGATGATG GAGATAGCAGACATGGATGCGGAGGCCCTCCCGCAGGTGCTGGTGATGAT GGAGATAGCAGACATGGGTGCGGGGGCCCTCCCGCAGGTGCTGGTGATGA TAGAGATAGCAGACATGGGTGCGGGGCCCTCCCGCAGGTGCTGGTGATGA TGGAGATAGCAGACATGGGTGCGGGGCCCTCCCGCAGGTGCTGGTGATGA TGGAGATAGCAGACATGGATGCGGAGGCCCTCCCGCAGGTGCTGGTGATG ATGGAGATAGCAGACATGGGTGCGGGGCCCTCCCGCAGGTGCTGGTGATG ATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGAT GATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGA TGATGGAGATAGCAGACATGGGTGCGGGGGCCCTCCCGCAGGTGCTGGTG ATGATGGAGATAGCAGACATGGGTGCGGGGGCTCTCCCGCAGGTGCTGGT GATGATGGAGATAGCAGACATGGGTGCATGGGCTCTCCCGCAGGTACTGG TGATGATGGAGATAGCAGACATGGGTGCATGGGCTCTCCCGCAGGTACTG GTGATGATGGAGATAGTGGGCCTGGGTGCGGGGGCCCTCCCGCAGGTGCT GGTGATGATAGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGC TGGTGATGATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTG CTGGTGATGATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGT GCTGGTGATGATGGAGATAGCAGACATGGGTGCGTGGGCTCTCCCGCAGG TGCTGGTGATGATGGAGATAGCAGACATGGATGCGTGGGCCCTCCCGCAG GTGCTGGTGATGATGGAGATAGCAGACATGGGTGCAGGGGCCCTCCCGCA GGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGC AGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGGGGCCCTCCCGC AGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCG CAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGTGGGCCATCCC GCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGGGGCCCTCCC GCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGGGGGCTCTCC CGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGGGGGCTCTC CCGCAGGTGCTGGTGATGATAGAGATAGCAGACATGGGTGCATGGGCTCT CCCGCAGGTACTGGTGATGATGGAGATAGCAGACATGGGTGCATGGGCTC TCCCGCAGGTACTGGTGATGATGGAGATAGCGGGCCTGGGTGCGGGGGCC CTCCCGCAGGTACTGGTGATGATAGAGATAGCAGACATGGGTGCGTGGGC CATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGTGGG CCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGTGG GCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGTG GGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGT GGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCG TGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGC GTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTG CGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATCCAGACATGGGTG CGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGT GCGTGG	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZFPM1_chr16_88448280_88542031	88501132	G G	GGGCCCTC others(2025): Show GGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCG GGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGATGCG GAGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGC GGGGGCCCTCCCGCAGGTGCTGGTGATGATAGAGATAGCAGACATGGGTG CGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTG CGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGATG CGGAGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGT GCGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGT GCGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGG TGCGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGG GTGCGGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATG GGTGCGGGGGCTCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACAT GGGTGCATGGGCTCTCCCGCAGGTACTGGTGATGATGGAGATAGCAGACA TGGGTGCATGGGCTCTCCCGCAGGTACTGGTGATGATGGAGATAGTGGGC CTGGGTGCGGGGGCCCTCCCGCAGGTGCTGGTGATGATAGAGATAGCAGA CATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAG ACATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCA GACATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGC AGACATGGGTGCGTGGGCTCTCCCGCAGGTGCTGGTGATGATGGAGATAG CAGACATGGATGCGTGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATA GCAGACATGGGTGCGGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGAT AGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGA TAGCAGACATGGGTGCGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGA TAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAG ATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGATGATGGA GATAGCAGACATGGGTGCGGGGCCCTCCCGCAGGTGCTGGTGATGATGGA GATAGCAGACATGGGTGCGGGGGCTCTCCCGCAGGTGCTGGTGATGATGG AGATAGCAGACATGGGTGCGGGGGCTCTCCCGCAGGTGCTGGTGATGATA GAGATAGCAGACATGGGTGCATGGGCTCTCCCGCAGGTACTGGTGATGAT GGAGATAGCAGACATGGGTGCATGGGCTCTCCCGCAGGTACTGGTGATGA TGGAGATAGTGGGCCTGGGTGCGGGGGCCCTCCCGCAGGTACTGGTGATG ATAGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGAT GATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGA TGATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTG ATGATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTGGT GATGATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTGG TGATGATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTG GTGATGATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCT GGTGATGATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGC TGGTGATGATGGAGATCCAGACATGGGTGCGTGGGCCATCCCGCAGGTGC TGGTGATGATGGAGATAGCAGACATGGGTGCGT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01109.hp1 HG01361.hp2 others(3): Show HG01071.hp1 HG01109.hp1 HG01361.hp2 HG02165.hp1 NA19085.hp2 NA20905.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0009 a0006c0011 others(1): Show a0001c0001 a0002c0009 a0006c0011 a0006c0018	a0001c0001t0004 a0002c0009t0012 a0006c0011t0034 others(2): Show a0001c0001t0004 a0002c0009t0012 a0006c0011t0034 a0006c0011t0051 a0006c0018t0008	a0001c0001t0004g0297 a0002c0009t0012g0002 a0006c0011t0034g0075 others(2): Show a0001c0001t0004g0297 a0002c0009t0012g0002 a0006c0011t0034g0075 a0006c0011t0051g0185 a0006c0018t0008g0217	6	318	0.0189	2032	c.268 others(2051): Show c.268+11981_268+11982insCCCTCCCGCAGGTGCTGGTGATGATG GAGATAGCAGACATGGGTGCGGGGCCCTCCCGCAGGTGCTGGTGATGATG GAGATAGCAGACATGGATGCGGAGGCCCTCCCGCAGGTGCTGGTGATGAT GGAGATAGCAGACATGGGTGCGGGGGCCCTCCCGCAGGTGCTGGTGATGA TAGAGATAGCAGACATGGGTGCGGGGCCCTCCCGCAGGTGCTGGTGATGA TGGAGATAGCAGACATGGGTGCGGGGCCCTCCCGCAGGTGCTGGTGATGA TGGAGATAGCAGACATGGATGCGGAGGCCCTCCCGCAGGTGCTGGTGATG ATGGAGATAGCAGACATGGGTGCGGGGCCCTCCCGCAGGTGCTGGTGATG ATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGAT GATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGA TGATGGAGATAGCAGACATGGGTGCGGGGGCCCTCCCGCAGGTGCTGGTG ATGATGGAGATAGCAGACATGGGTGCGGGGGCTCTCCCGCAGGTGCTGGT GATGATGGAGATAGCAGACATGGGTGCATGGGCTCTCCCGCAGGTACTGG TGATGATGGAGATAGCAGACATGGGTGCATGGGCTCTCCCGCAGGTACTG GTGATGATGGAGATAGTGGGCCTGGGTGCGGGGGCCCTCCCGCAGGTGCT GGTGATGATAGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGC TGGTGATGATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTG CTGGTGATGATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGT GCTGGTGATGATGGAGATAGCAGACATGGGTGCGTGGGCTCTCCCGCAGG TGCTGGTGATGATGGAGATAGCAGACATGGATGCGTGGGCCCTCCCGCAG GTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGGGGGCCCTCCCGCA GGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGC AGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGGGGCCCTCCCGC AGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCG CAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGTGGGCCATCCC GCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGGGGCCCTCCC GCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGGGGGCTCTCC CGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGGGGGCTCTC CCGCAGGTGCTGGTGATGATAGAGATAGCAGACATGGGTGCATGGGCTCT CCCGCAGGTACTGGTGATGATGGAGATAGCAGACATGGGTGCATGGGCTC TCCCGCAGGTACTGGTGATGATGGAGATAGTGGGCCTGGGTGCGGGGGCC CTCCCGCAGGTACTGGTGATGATAGAGATAGCAGACATGGGTGCGTGGGC CATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGTGGG CCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGTGG GCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGTG GGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGT GGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCG TGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGC GTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTG CGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATCCAGACATGGGTG CGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGT GCGTGG	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA7_chr19_1035107_1070572	1049873	G G	GGCCCCCC others(2026): Show GGCCCCCCACCACTCCCTCCCCATGAACCCCCCACCACTCCCTCCCCGTG AGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCAT GAACCCCCCACCACTCCCTCCCCGTGAACCCCCCCACCACTCCCTCCCCG TGAGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCG TGAGGCCCCCCACCACTCCCTCCCCATGAACCCCCCACCACTCCCTCCCC GTGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCC CATGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCC CCGTGAGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCC CCGTGAGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCC CCGTGAGGCCCCCCACCACTCCCTCCCCATGAACCCCCCCACCACTCCCT CCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCC CTCCCCGTGAACCCCCCCCCACTCCCTCCCCGTGAGGCCCCCACCACTCC CTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTC CCTCCCCATGAACCCCCCACCACTCCCTCCCCATGAACCCCCCCACCACT CCCTCCCCATGAACCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCAC TCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCACCAC TCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCA CTCCCTCCCCATGAACCCCCCACCACTCCCTCCCCGTGAACCCCCCACCA CTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACC ACTCCCTCCCCATGAACCCCCCACCACTCCCTCCCCATGAACCCCCCCAC CACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCC ACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCC CACCACTCCCTCCCCATGAACCCCCCACCACTCCCTCCCCGTGAACCCCC CACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCATGAGCCCCC CACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAACCCC CCACCACTCCCTCCCCGTGAGGCCCCCACCACTCCCTCCCCGTGAACCCC CCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCC CCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGGCC CCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACC CCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAAC CCCCCACCACTCCCTCCCCATGAACCCCCCACCACTCCCTCCCCGTGAGG CCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAA CCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGA GCCCCCCGACCGCTCCCTCCCCGTGAGTCCCCCACCACTCCCTCCCCGTG AGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCAT GAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCG TGAACCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCG TGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCC CGTGAGTCCCCCACCACTCCCTCCCTTTGAGCCCCCCCGGACCACTCCCT CCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCT CCCCGTGAGCCCCCCCACCACTCCCTCCCTGTGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0005 a0005	a0005c0022 a0005c0022	a0005c0022t0001 a0005c0022t0001	a0005c0022t0001g0004 a0005c0022t0001g0004	1	30	0.0333	2033	c.255 others(2050): Show c.2552+436_2552+437insGCCCCCCACCACTCCCTCCCCATGAACC CCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAAC CCCCCACCACTCCCTCCCCATGAACCCCCCACCACTCCCTCCCCGTGAAC CCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAG CCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCATGA ACCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTG AACCCCCCACCACTCCCTCCCCATGAACCCCCCACCACTCCCTCCCCGTG AGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGT GAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGT GAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCA TGAACCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCC CGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCCCCACTCCCTCC CCGTGAGGCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCC CCGTGAGGCCCCCCACCACTCCCTCCCCATGAACCCCCCACCACTCCCTC CCCATGAACCCCCCCACCACTCCCTCCCCATGAACCCCCCCACCACTCCC TCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCC TCCCCGTGAGGCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCC TCCCCGTGAGGCCCCCCACCACTCCCTCCCCATGAACCCCCCACCACTCC CTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCC CTCCCCGTGAGGCCCCCCACCACTCCCTCCCCATGAACCCCCCACCACTC CCTCCCCATGAACCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCAC TCCCTCCCCGTGAACCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCA CTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCATGAACCCCCCACC ACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCACC ACTCCCTCCCCATGAGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCAC CACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCAC CACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGGCCCCCCA CCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAACCCCCCA CCACTCCCTCCCCGTGAGGCCCCCACCACTCCCTCCCCGTGAGGCCCCCC ACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCC CACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCATGAACCCCC CACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCC CCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCC CCCACCACTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCCCGTGAGTC CCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAAC CCCCCACCACTCCCTCCCCATGAACCCCCCACCACTCCCTCCCCGTGAGG CCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAA CCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGA GCCCCCCGACCGCTCCCTCCCCGTGAGTCCCCCACCACTCCCTCCCTTTG AGCCCCCCCGGACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCT GTGAGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCC TGTGA	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/46			chr19	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2026): Show CGGCCTCCCAAAGTGCTGGGATGACGGGCTTGAGCTACTTTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCT CTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTG CAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAG TCACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTT TTAGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCT GACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAG GCGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCG ATCTTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATT CTCCTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCAC ACGCAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCT CGTTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA ACCTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTA GCTGAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTC AGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGG CCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGC ATGAGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGAC ATCAATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTA AGTGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACA CAGTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTT TGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATC TTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGC AGCCTCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAA TTTTTTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGC TGGGATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTA CATGAACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATT CCAGCTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTC GAGACCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACA AAAATTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACT CAGGAGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCA GTGAGTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAAC TCTTATATAAGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAA TCAGACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGC CAGATTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTT GAGATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCT CAGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCA GCCTCCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAAT TTTTGTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTG TCAAACTCCTGGCCTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	159	0.0063	2033	c.-90 others(2048): Show c.-90-158_-90-157insGACGGGCTTGAGCTACTTTGCCCGGCCTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCT GTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGCA ACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTC ACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTTT AGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGA CCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGC GTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGAT CTTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCT CCTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACAC GCAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCG TTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAC CTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGC TGAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAG TAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCC TCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCAT GAGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACAT CAATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAG TGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACA GTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTTG AGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTT GGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAG CCTCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATT TTTTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTG GGATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACA TGAACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCC AGCTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGA GACCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAA AATTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCA GGAGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGT GAGTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTC TTATATAAGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATC AGACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCA GATTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGA GATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCA GCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGC CTCCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTT TTGTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTC AAACTCCTGGCCTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGG GAT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2026): Show CGGCCTCCCAAAGTGCTGGGATGACGGGCTTGAGCTACTTTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCT CTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTG CAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAG TCACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTT TTAGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCT GACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAG GCGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGC GATCTTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGAT TCTCCTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCA CACGCAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTC TCGTTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AACCTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGT AGCTGAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTT CAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTG GCCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGG CATGAGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGA CATCAATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCT AAGTGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATAC ACAGTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTT TGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATC TTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGC AGCCTCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAA TTTTTTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGC TGGGATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTA CATGAACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATT CCAGCTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTC GAGACCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACA AAAATTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACT CAGGAGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCA GTGAGTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAAC TCTTATATAAGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAA TCAGACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGC CAGATTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTT GAGATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCT CAGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCA GCCTCCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAAT TTTTGTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTG TCAAACTCCTGGCCTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	159	0.0063	2033	c.-90 others(2048): Show c.-90-158_-90-157insGACGGGCTTGAGCTACTTTGCCCGGCCTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCT GTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGCA ACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTC ACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTTT AGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGA CCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGC GTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGA TCTTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTC TCCTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACA CGCAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTC GTTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA CCTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAG CTGAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCA GTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGC CTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCA TGAGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACA TCAATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAA GTGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACAC AGTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTG AGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTT GGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAG CCTCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATT TTTTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTG GGATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACA TGAACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCC AGCTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGA GACCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAA AATTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCA GGAGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGT GAGTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTC TTATATAAGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATC AGACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCA GATTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGA GATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCA GCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGC CTCCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTT TTGTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTC AAACTCCTGGCCTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGG GAT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2026): Show CGGCCTCCCAAAGTGCTGGGATGACGGGCTTGAGCTACTTTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGC TCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACT GCAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGA GTCACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATT TTTAGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTC TGACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACA GGCGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCG ATCTTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATT CTCCTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCAC ACGCAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCT CGTTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA ACCTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTA GCTGAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTC AGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGG CCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGC ATGAGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGAC ATCAATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTA AGTGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACA CAGTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTT GAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCT TGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCA GCCTCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAAT TTTTTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCT GGGATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTAC ATGAACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTC CAGCTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCG AGACCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAA AAATTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTC AGGAGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAG TGAGTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACT CTTATATAAGAAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAA TCAGACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGC CAGATTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTT GAGATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCT CAGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCA GCCTCCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAAT TTTTGTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTG TCAAACTCCTGGCCTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	159	0.0063	2033	c.-90 others(2048): Show c.-90-158_-90-157insGACGGGCTTGAGCTACTTTGCCCGGCCTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTC TGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGC AACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGT CACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTT TAGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTG ACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGG CGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGAT CTTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCT CCTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACAC GCAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCG TTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAC CTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGC TGAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAG TAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCC TCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCAT GAGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACAT CAATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAG TGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACA GTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTGA GACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTG GCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGC CTCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTT TTTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGG GATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACAT GAACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCA GCTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAG ACCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAA ATTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAG GAGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTG AGTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCT TATATAAGAAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATC AGACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCA GATTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGA GATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCA GCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGC CTCCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTT TTGTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTC AAACTCCTGGCCTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGG GAT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2026): Show CGGCCTCCCAAAGTGCTGGGATGACGGGCTTGAGCTACTTTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGC TCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACT GCAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGA GTCACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATT TTTAGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTC TGACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACA GGCGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCG ATCTTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATT CTCCTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCAC ACGCAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTC TCGTTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AACCTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGT AGCTGAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTT CAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTG GCCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGG CATGAGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGA CATCAATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCT AAGTGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATAC ACAGTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTT TGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATC TTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGC AGCCTCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAA TTTTTTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGC TGGGATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTA CATGAACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATT CCAGCTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTC GAGACCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACA AAAATTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACT CAGGAGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCA GTGAGTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAAC TCTTATATAAGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAA TCAGACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGC CAGATTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTT GAGATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCT CAGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCA GCCTCCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAAT TTTTGTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTG TCAAACTCCTGGCCTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA19062.hp1 HG03831.hp2 NA19062.hp1	a0001 a0012 a0001 a0012	a0001c0002 a0012c0011 a0001c0002 a0012c0011	a0001c0002t0004 a0012c0011t0010 a0001c0002t0004 a0012c0011t0010	a0001c0002t0004g0083 a0012c0011t0010g0054 a0001c0002t0004g0083 a0012c0011t0010g0054	2	159	0.0126	2033	c.-90 others(2048): Show c.-90-158_-90-157insGACGGGCTTGAGCTACTTTGCCCGGCCTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTC TGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGC AACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGT CACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTT TAGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTG ACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGG CGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGAT CTTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCT CCTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACAC GCAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTC GTTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA CCTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAG CTGAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCA GTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGC CTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCA TGAGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACA TCAATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAA GTGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACAC AGTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTG AGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTT GGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAG CCTCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATT TTTTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTG GGATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACA TGAACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCC AGCTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGA GACCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAA AATTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCA GGAGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGT GAGTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTC TTATATAAGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATC AGACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCA GATTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGA GATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCA GCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGC CTCCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTT TTGTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTC AAACTCCTGGCCTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGG GAT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2026): Show CGGCCTCCCAAAGTGCTGGGATGACGGGCTTGAGCTACTTTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGC TCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACT GCAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGA GTCACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATT TTTAGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTC TGACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACA GGCGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGC GATCTTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGAT TCTCCTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCA CACGCAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTC TCGTTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AACCTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGT AGCTGAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTT CAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTG GCCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGG CATGAGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGA CATCAATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCT AAGTGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATAC ACAGTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTT TGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATC TTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGC AGCCTCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAA TTTTTTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGC TGGGATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTA CATGAACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATT CCAGCTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTC GAGACCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACA AAAATTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACT CAGGAGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCA GTGAGTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAAC TCTTATATAAGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAA TCAGACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGC CAGATTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTT GAGATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCT CAGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCA GCCTCCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAAT TTTTGTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTG TCAAACTCCTGGCCTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	HG01981.hp2 NA19011.hp1 NA19064.hp2 HG01981.hp2 NA19011.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0002g0102 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0002g0102	3	159	0.0189	2033	c.-90 others(2048): Show c.-90-158_-90-157insGACGGGCTTGAGCTACTTTGCCCGGCCTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTC TGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGC AACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGT CACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTT TAGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTG ACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGG CGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGA TCTTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTC TCCTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACA CGCAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTC GTTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA CCTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAG CTGAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCA GTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGC CTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCA TGAGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACA TCAATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAA GTGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACAC AGTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTG AGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTT GGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAG CCTCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATT TTTTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTG GGATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACA TGAACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCC AGCTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGA GACCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAA AATTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCA GGAGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGT GAGTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTC TTATATAAGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATC AGACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCA GATTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGA GATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCA GCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGC CTCCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTT TTGTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTC AAACTCCTGGCCTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGG GAT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2026): Show CGGCCTCCCAAAGTGCTGGGATGACGGGCTTGAGCTACTTTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTG CTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCAC TGCAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCG AGTCACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTAT TTTTAGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTT CTGACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGAC AGGCGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGC GATCTTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGAT TCTCCTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCA CACGCAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTC TCGTTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AACCTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGT AGCTGAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTT CAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTG GCCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGG CATGAGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGA CATCAATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCT AAGTGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATAC ACAGTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTT TGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATC TTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGC AGCCTCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAA TTTTTTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGC TGGGATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTA CATGAACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATT CCAGCTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTC GAGACCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACA AAAATTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACT CAGGAGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCA GTGAGTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAAC TCTTATATAAGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAA TCAGACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGC CAGATTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTT GAGATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCT CAGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCA GCCTCCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAAT TTTTGTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTG TCAAACTCCTGGCCTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0088 a0002c0003t0004g0088	1	159	0.0063	2033	c.-90 others(2048): Show c.-90-158_-90-157insGACGGGCTTGAGCTACTTTGCCCGGCCTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCT CTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTG CAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAG TCACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTT TTAGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCT GACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAG GCGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGA TCTTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTC TCCTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACA CGCAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTC GTTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA CCTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAG CTGAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCA GTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGC CTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCA TGAGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACA TCAATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAA GTGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACAC AGTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTG AGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTT GGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAG CCTCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATT TTTTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTG GGATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACA TGAACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCC AGCTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGA GACCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAA AATTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCA GGAGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGT GAGTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTC TTATATAAGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATC AGACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCA GATTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGA GATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCA GCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGC CTCCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTT TTGTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTC AAACTCCTGGCCTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGG GAT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2026): Show CGGCCTCCCAAAGTGCTGGGATGACGGGCTTGAGCTACTTTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCA GTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCAC TCTCACTGCAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGG CTCTCGAGTCACTGGGATTAGAGGCGCTCACCACCACGCCCAGCTAATTT TTCTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGTTCTT GAACTTCTGACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGG GATGACAGGCGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGG TGCGATCTTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAAC GATTCTCCTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCA CCACACGCAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTC TCGTTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AACCTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGT AGCTGAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTT CAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTG GCCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGG CATGAGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGA CATCAATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCT AAGTGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATAC ACAGTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTT TGAGACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATC TTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGC AGCCTCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAA TTTTTTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGC TGGGATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTA CATGAACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATT CCAGCTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTC GAGACCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACA AAAATTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACT CAGGAGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCA GTGAGTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAAC TCTTATATAAAAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAA TCAGACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGC CAGATTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTT GAGATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCT CAGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCA GCCTCCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAAT TTTTGTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTG TCAAACTCCTGGCCTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0023 a0002c0004t0004g0023	1	159	0.0063	2033	c.-90 others(2048): Show c.-90-158_-90-157insGACGGGCTTGAGCTACTTTGCCCGGCCTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGT CTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTC TCACTGCAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCT CTCGAGTCACTGGGATTAGAGGCGCTCACCACCACGCCCAGCTAATTTTT CTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGTTCTTGA ACTTCTGACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGA TGACAGGCGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTG CGATCTTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGA TTCTCCTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACC ACACGCAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTC GTTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA CCTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAG CTGAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCA GTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGC CTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCA TGAGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACA TCAATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAA GTGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACAC AGTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTG AGACAGAGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTT GGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAG CCTCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATT TTTTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTG GGATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACA TGAACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCC AGCTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGA GACCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAA AATTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCA GGAGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGT GAGTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTC TTATATAAAAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATC AGACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCA GATTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGA GATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCA GCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGC CTCCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTT TTGTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTC AAACTCCTGGCCTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGG GAT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
GALR1_chr18_77244848_77282900	77252881	T T	TCACCACC others(2026): Show TCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACC ACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCAT CACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCATCA CCACCATCACCACCACCACCACCACCATCACCACCACCACCATCACCACC ATCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCAC CACCACCACCACCATCACCATCACCACCACCACCACCACCACCACCATCA CCACCATCACCACCACCACCACCACCATCACCACCACCACCATCACCACC ATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCAC CACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCA TCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ATCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCA CCATCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACC ATCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACC ATCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCAC CACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCA TCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCAC CATCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCATC ACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCATCAC CACCACCACCACCACCACCACCACCACCACCACCACCACCACCACCACCA TCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCACC ACCACCATCACCACCATCACCACCACCACCACCACCACCACACCATCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACC ACCACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCACCA CCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCACC ACCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCAC CACCACCACCACCATCACCACCACCATCACCACCACCACCACCACCACCA CCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCATC ACCACCATCACCACCACCACCACCACCACCACCACCATCACCACCACCAC CATCACCACCATCACCACCACCACCATCACCACCATCACCACCACCACCA CCACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCACC ACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCATCAC CACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCACCACCACCAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0327 a0001c0004t0004g0327	1	366	0.0027	2033	c.666 others(2050): Show c.666+1681_666+1682insCCACCACCACCATCACCACCATCACCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCACC ACCATCACCACCATCACCACCACCACCACCACCATCACCACCACCACCAT CACCACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCA CCACCACCACCACCACCACCATCACCATCACCACCACCACCACCACCACC ACCATCACCACCATCACCACCACCACCACCACCATCACCACCACCACCAT CACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCATCACCACCACCACCATCACCACCATCACCACCACCACCACCA CCACCATCACCACCACCACCACCACCACCATCACCACCACCACCATCACC ACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCAT CACCACCATCACCACCACCACCACCATCACCACCACCACCACCACCACCA TCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CACCACCATCACCACCATCACCACCACCACCACCACCACCACCACCACCA TCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCA TCACCACCATCACCACCACCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCAC CACCATCACCACCACCACCATCACCACCATCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCACCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCACCATCACCACCATCACCACCACCACCACCAC CACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCACAC CATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCA TCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCATC ACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCACCACCACCATCACCACCACCATCACCACCACCACCACC ACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCAC CACCATCACCACCATCACCACCACCACCACCACCACCACCACCATCACCA CCACCACCATCACCACCATCACCACCACCACCATCACCACCATCACCACC ACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCAC CACCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCA CCATCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACC ACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCAC CACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GTPBP6_chrX_299759_323796	316301	G G	GACACAGA others(2026): Show GACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCG GCAGGGACACAAACACATACACACGCAGACACACACACACACACACACAC ACTAAATACATCCCGACAGGGACAGACACACACACACAGACACACACACA GAGACACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACACAT ACACACGCAGACACACACACACACACACACACAAACACACAGTAAATACC TCCCGACAGGGACAGACACACACACACAGACACACACACAGAGACACACA CAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAG ACACACACACACACACACACACACACAAACACACAGTAAATACATCCCGA CAGGGACAGACACACACACAGAGACACACACAAACACAGTAAACACATCC CGGCAGGAACACAAACACATACATACGCAGACACACACACACACACACAC TAAATACATCCCGACAGGGACAGACACAGACAGACACACAGAGACACACA CAAATACAGTAAACACATCCCAGCAGGGACACAAACACATACACACGCAG ACACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGA CACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGC AGGGACACAAACACATACACACGCAGACACACACACACACACACACACAC AAACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGAGA CACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGACAC AAACACATACACACGCAGACACACACACACACAAACACACAGTAAATACA TCCCGACAGGGACAGACACACACACAGAGACACACACAAACACAGTAAAC ACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACAC ACACAAACACACAGTAAATACATCCCGACAGGGACAGACACACACACAGA GACACACACAAACACAGTAAACACATCCCGGCAGGAACACAAACACATAC ATACGCAGACACACACACACACAAACACACACACACACAGTAAATACATC CCGACAGGGACAGACACACACACACACACAGACACACACAGTAAATGCAT CCCGACGGACAGACACACATACAGAGTAAACACATCCCGATGGACACAGA CACACAGACACACACACAGGGTAAACACATCCTGACGGACACACACACAC ACAGACACACACAGTAAACACATCCCAATGGACACAGAAACACACACATG CAGACACACAGAGTAAACACATCCTGACAGGGACACACACACACACGCAG ACACACACACAGTAAACACATCCCAACAGGGACGCAGACACACACACATG CAGACACACAGAGACACACACAGTAAACACATCCTGACAGGGACAGACAT ACACACACACACACACGCAGACACACAGAGACACACACACACAGTAAACA CATCCCGACAGGGACAGACACAGACACACAGACACACACAGACACACACA GACACACTCAGTAAACACATCCCAACAGGGACAGACACAGACAGACATGC GCAGACACACAGACACACACAGAGAGACACACACACACAGAGACACACAC AGTAACACATCCCGACAGGGACAGACACACACAGTAAACACATCCCAACA GGGACGCAGACACACACACATGCAGACACACAGAGACACACACAGTAAAC ACATCCCGACAGGGACAGACACAGACACACAGACACACACAGACACACTC AGTAAACACATCCCAACAGGGACAGACACAGACAGACATGCGCAGACACA CAGACACACACACACACAGACACACACAGTAACACATCCCAACAGGGACA GACACACATGCACGGAGAACACAGCTGGTGGAACACACACACACACAGAC ACAAACACAGCGTAACACATCCCGACAGGGACAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0003 a0006c0011t0003	a0006c0011t0003g0142 a0006c0011t0003g0142	1	155	0.0065	2033	c.487 others(2048): Show c.487+612_487+613insGTGTCCCTGTCGGGATGTGTTACGCTGTGT TTGTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTG TGTCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTG TCTGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTT TACTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGG ATGTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCG TCCCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTCGGGATGTGT TACTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGT CTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTG TGTCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGG GATGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGT GTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTGTG TCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGTGT GTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTGTG TCTGCATGTGTGTGTTTCTGTGTCCATTGGGATGTGTTTACTGTGTGTGT CTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTG TGTGTCTGTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGTCCGT CGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTCCCTG TCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTCTGC GTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTG TGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTT GTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGG ATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTC GGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTCTGCGTGTGTATGT GTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTG TGTGTCTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGT GTTTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGT CCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTC TGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGT GTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTA TTTGTGTGTGTCTCTGTGTGTCTGTCTGTGTCTGTCCCTGTCGGGATGTA TTTAGTGTGTGTGTGTGTGTGTGTCTGCGTATGTATGTGTTTGTGTTCCT GCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTC CCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTGTGT GTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTG TTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTC GGGAGGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTGTGTCTGCGT GTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTG TCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATT TAGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCC CTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTG TGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
JAKMIP3_chr10_132060946_132189858	132173041	C C	CCCCCTCT others(2026): Show CCCCCTCTCCTTCCCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCC CCCTCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCT CCCCCTCTCCTTCCCTCTCTCTCTCCCTCTCCTTCCCTCTCTCTCTCCCT CTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCCCC CTCTCCTTCCCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCCCC CTCTCCTTCCCTCTCTCTCTCCCCCCCTCTCCTTCCCTCTCTCTCTCTCC CCCTCTCCTTCCCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCT CCCCCTCTCCTTCCCTCTCTCCCTCCCCCTCTCCTTCCCTCTCTCCTTCC CCCTCTCCTTCCCCCTCTCCTTCCCCCTCTCCCTCCCCCTCTCCTTCCCT CTCTCCCTCCCCATCTCCTTCCCTCTCTCCCTCTCCCCCTCTCCTTCCCT CTCTCTCCCTCTCCCTCCCTCTCTCTCCCTCTCCTTCCCTCTCTCTCTCC CCTTCCCTCTCTCTCTCCCCTTCCCTCTCTCTCCCCCTCTCCTTCCCTCT CTCTCCCTCTCCCTCCCTCTCTCTCCCTCTCCCTCCCTCTCTCTCCCTCT CCCTCCCTCTCTCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCCCTCT CCCTCCCTCTCTCTCCCTCTCCTTCCCTCTCTCTCTCTCTCCTTCCCTCT CTCTCTCCCCTTCCCTCTCTCTCTCCCCTTCCCTCTCTCTCTCTCCCCTT CCCTCTCTCTCTCCCCCTCTCCTTCCCTCTCCCTCTCTTACCCTTTCCTT CCCTCTCCTTCCCTCTCCATCCCTCTCCCTCTCCTTCCCTCTCCTTCCCT CTCCCTCTCTCCCCCCTCCTTCCCTCTCCCTCTCTCCCCCCTCCTTCCCT CTCCCTCTCTCCCCCCTCCTTCCCTCTCCCTCTCTCCCCCCTCCTTCCCT CTCCCTCACTCCCCCCCTCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCC TCTCCCTCACTCCCCCCTCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCC TCTCCCTCACTCCCCCCTCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCC TCTCCCTCACTCCCCCCTCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCC TCTCCCTCACTCCCCCCTCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCC TCTCCCTCACTCCCCCCTCCTTCCCTCTCTCCCCCCCTCTCCCCCCCTCC CCCTCTCCCCCCCTCCCCCTCTCCCCCCCTCCCCCTCTCCCCCCCTCCCC CTCTCCCCCCCTCCCCCTCTCCCCCCTCTCCCCCTCTCTCCCCCCTCCCC CCTCTCCCCCTCTCTCCCCCCTCCCCCCTCTCCCCCTCTCTCCCCCCCTC CCCCCTCTCCCCCTCTCTCCCCCCCTCCCCCCTCCCCTCTCCCCCCTCCC CCCTCCCCTCTCCCCCCTCCCCCCTCCCCCCTCCCCTCTCCCCCCTCCCC CCTCCCCCCCTCCCCCTCCCCCCCTCCTTCCCTCTCTCTCCCTTTCCCCC TCCTACCCTCTCTCTCCCTCTCCCCCTCCTTCCCTCTCTCACCCCCTCCC CCTCCTTCCCTCTCTCTCTCCCTCCCCCTCCTTCCCTCTCTCCCCCTCCC CCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCCCCTCCCCCTC CTTCCCTCTCTCCCCCTCCTTCCCTCTCTCTCCCCCTCCCCCTCCTTCTC CTTCCCTCTCTCTCCCCCTCCCCCTCCTTCTCCTTTCCTCTCTCTCTCCC CCTCCCCCTCCCCCTCCTTCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTC CTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTC CCCCTCCTTCCCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCC CCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0008 a0008	a0008c0039 a0008c0039	a0008c0039t0002 a0008c0039t0002	a0008c0039t0002g0133 a0008c0039t0002g0133	1	158	0.0063	2033	c.11 others(2054): Show c.1103+4008_*1103+4009insCCCCTCTCCTTCCCTCTCTCTCCC CCTCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTC CCCCTCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTC CCTCTCCTTCCCTCTCTCTCTCCCTCTCCTTCCCTCTCTCTCTCTCCCCC TCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCCCCC TCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCCCCC CCTCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCCC CCTCTCCTTCCCTCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCCCTC CCCCTCTCCTTCCCTCTCTCCTTCCCCCTCTCCTTCCCCCTCTCCTTCCC CCTCTCCCTCCCCCTCTCCTTCCCTCTCTCCCTCCCCATCTCCTTCCCTC TCTCCCTCTCCCCCTCTCCTTCCCTCTCTCTCCCTCTCCCTCCCTCTCTC TCCCTCTCCTTCCCTCTCTCTCTCCCCTTCCCTCTCTCTCTCCCCTTCCC TCTCTCTCCCCCTCTCCTTCCCTCTCTCTCCCTCTCCCTCCCTCTCTCTC CCTCTCCCTCCCTCTCTCTCCCTCTCCCTCCCTCTCTCTCCCTCTCCCTC CCTCTCCCTCCCTCTCCCTCCCTCTCCCTCCCTCTCTCTCCCTCTCCTTC CCTCTCTCTCTCTCTCCTTCCCTCTCTCTCTCCCCTTCCCTCTCTCTCTC CCCTTCCCTCTCTCTCTCTCCCCTTCCCTCTCTCTCTCCCCCTCTCCTTC CCTCTCCCTCTCTTACCCTTTCCTTCCCTCTCCTTCCCTCTCCATCCCTC TCCCTCTCCTTCCCTCTCCTTCCCTCTCCCTCTCTCCCCCCTCCTTCCCT CTCCCTCTCTCCCCCCTCCTTCCCTCTCCCTCTCTCCCCCCTCCTTCCCT CTCCCTCTCTCCCCCCTCCTTCCCTCTCCCTCACTCCCCCCCTCCTTCCC TCTCCCTCACTCCCCCCTCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCC TCTCCCTCACTCCCCCCTCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCC TCTCCCTCACTCCCCCCTCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCC TCTCCCTCACTCCCCCCTCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCC TCTCCCTCACTCCCCCCTCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCC TCTCTCCCCCCCTCTCCCCCCCTCCCCCTCTCCCCCCCTCCCCCTCTCCC CCCCTCCCCCTCTCCCCCCCTCCCCCTCTCCCCCCCTCCCCCTCTCCCCC CTCTCCCCCTCTCTCCCCCCTCCCCCCTCTCCCCCTCTCTCCCCCCTCCC CCCTCTCCCCCTCTCTCCCCCCCTCCCCCCTCTCCCCCTCTCTCCCCCCC TCCCCCCTCCCCTCTCCCCCCTCCCCCCTCCCCTCTCCCCCCTCCCCCCT CCCCCCTCCCCTCTCCCCCCTCCCCCCTCCCCCCCTCCCCCTCCCCCCCT CCTTCCCTCTCTCTCCCTTTCCCCCTCCTACCCTCTCTCTCCCTCTCCCC CTCCTTCCCTCTCTCACCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCTCC CCCTCCTTCCCTCTCTCCCCCTCCCCCTCCCCCTCCTTCCCTCTCTCTCT CCCCCTCCCCCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCTCCTTCCCT CTCTCTCCCCCTCCCCCTCCTTCTCCTTCCCTCTCTCTCCCCCTCCCCCT CCTTCTCCTTTCCTCTCTCTCTCCCCCTCCCCCTCCCCCTCCTTCTCCTT CCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCC CTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCCCCCT CCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCT CCCCCTCCT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23			chr10	TogoVar
PDGFA_chr7_492258_524846	494645	G G	GGGGGACG others(2026): Show GGGGGACGGGGGATCTGTGAGGGGACGGGGGATCTGTGAGGGGGATGGGG GATCTGTGAGGGGGACGGGGGATCTGTGAGGGGACGGGGGATCTGTGAGG GGGATGGAGGGGATCTGTGAGGGGGACGGGGGATCTGTGAGGGGGATGGA GGGGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGAGGGGAT CTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGGGGATCCGTGAGG GGGATGGGGGATCTGTGAGGGGGATGGGGGATCTGTGAGGGGGATGGAGG ATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGGGGATCTGTGA GGGGGATGGAGGGGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGA TGGAGGGGATCTGTGAGGGGGATGGGGGATCTGTGAGGGGGATGGGGGAT CTGTGAGGGGGATGGGGGATCCGTGAGGGGGATGGGGGATCTGTGAGGGG GACGGGGGATCCGTGAGGGGACGGGGGATCTGTGAGGGGGATGGAGGGGA TCTGTGAGGGGGACGGGGGATCTGTGAGGGGGATGGAGGGGATCTGTGAG GGGGATGGGGGATCTGTGAGGGGGATGGAGGGGATCCGTGAGGGGACGGG GGATCTGTGAGGGGGACGGGGGATCCGTGAGGGGACGGGGGATCTGTGAG GGGGATGGAGGGGATCTGTGAGGGGGACGGGGGATCTGTGAGGGGGATGG AGGGGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGAGGGGA TCTGTGAGGGGGATGGGGGATCTGTGAGGGGGATGGGGGATCTGTGAGGG GGATGGAGGGGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGG AGGGGATCTGTGAGGGGGATGGGGGATCTGTGAGGGGGATGGAGGGGATC TGTGAGGGGGATGGGGGATCCGTGAGGGGGATGGAGGGGATCTGTGAGGG GGATGGGGGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGAG GGGATCTGTGAGGGGGATGGGGGATCTGTGAGGGGGATGGAGGGGATCTG TGAGGGGGATGGGGGATCCGTGAGGGGGATGGAGGGGATCTGTGAGGGGG ATGGGGGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGAGGG GATCTGTGAGGGGGATGGAGGGGATCCGTGAGGGGACGGGGGATCTGTGA GGGGGACGGGGGATCCGTGAGGGGAACGGGGGATCTGTGAGGGGGATGGA GGGGATCCGTGAGGGGGACGGGGGAATCCGTGAGGGGACGGGGGATCTGT GAGGGGGATGGGGGATCCGTGAGGGGGATGGGGGATCTGTGAGGGGGACA GGGGATCCGTGAGGGGACGGGGGATCTGTGAGGGGGATGGGGGATCCGTG AGGGGGATGGAGGGGATCTGTGAGGGGGATGGAGGGGATCCGTGAGGGGG ACGGGGGATCTGTGAGGGGGATGGGGGATCTCTGAGGGGGACGGGGGATC TGTGAGGGGACGGGGGATCTGTGAGGGGGATGGGGGATCCGTGAGGGGGA TGGAGGGGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGACGGGGG ATCCGTGAGGGGGACGGGGGATCTGTGAGGGGGACAGGGGATCTGTGAGG GGACGGGGGATCTGTGAGGGGGATGGGGGATCCGTGAGGGGGACGGGGGA TCCGTGAGGGGGATGGGGGATCCGTGAGGGGACGGGGGATCTGTGAGGGG GATGGGGGATCTGTGAGGGGGACAGGGGATCTGTGAGGGGGATGGGGGAT CTGTGAGGGGGACAGGGGATCTGTGAGGGGGATGGGGGATCCGTGAGGGG GACGGGGGATCTGTGAGGGGGATGGGGGATCCGTGAGGGGGACGGGGGAT CTGTGAGGGGGATGGGGGATCCGTGAGGGGACGGGGGATCTGTGAGGGGA TGGGGGATCTGTGAGGGGGACGGGGGATCTGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	302	0.0033	2033	c.39 others(2044): Show c.3918_*3919insTCACAGATCCCCCGTCCCCCTCACAGATCCCCCA TCCCCTCACAGATCCCCCGTCCCCTCACGGATCCCCCATCCCCCTCACAG ATCCCCCGTCCCCCTCACGGATCCCCCATCCCCCTCACAGATCCCCCGTC CCCCTCACGGATCCCCCATCCCCCTCACAGATCCCCTGTCCCCCTCACAG ATCCCCCATCCCCCTCACAGATCCCCTGTCCCCCTCACAGATCCCCCATC CCCCTCACAGATCCCCCGTCCCCTCACGGATCCCCCATCCCCCTCACGGA TCCCCCGTCCCCCTCACGGATCCCCCATCCCCCTCACAGATCCCCCGTCC CCTCACAGATCCCCTGTCCCCCTCACAGATCCCCCGTCCCCCTCACGGAT CCCCCGTCCCCCTCACAGATCCCCTCCATCCCCCTCACAGATCCCCTCCA TCCCCCTCACGGATCCCCCATCCCCCTCACAGATCCCCCGTCCCCTCACA GATCCCCCGTCCCCCTCAGAGATCCCCCATCCCCCTCACAGATCCCCCGT CCCCCTCACGGATCCCCTCCATCCCCCTCACAGATCCCCTCCATCCCCCT CACGGATCCCCCATCCCCCTCACAGATCCCCCGTCCCCTCACGGATCCCC TGTCCCCCTCACAGATCCCCCATCCCCCTCACGGATCCCCCATCCCCCTC ACAGATCCCCCGTCCCCTCACGGATTCCCCCGTCCCCCTCACGGATCCCC TCCATCCCCCTCACAGATCCCCCGTTCCCCTCACGGATCCCCCGTCCCCC TCACAGATCCCCCGTCCCCTCACGGATCCCCTCCATCCCCCTCACAGATC CCCTCCATCCCCCTCACAGATCCCCTCCATCCCCCTCACAGATCCCCCAT CCCCCTCACAGATCCCCTCCATCCCCCTCACGGATCCCCCATCCCCCTCA CAGATCCCCTCCATCCCCCTCACAGATCCCCCATCCCCCTCACAGATCCC CTCCATCCCCCTCACAGATCCCCTCCATCCCCCTCACAGATCCCCCATCC CCCTCACAGATCCCCTCCATCCCCCTCACGGATCCCCCATCCCCCTCACA GATCCCCTCCATCCCCCTCACAGATCCCCCATCCCCCTCACAGATCCCCT CCATCCCCCTCACAGATCCCCTCCATCCCCCTCACAGATCCCCTCCATCC CCCTCACAGATCCCCCATCCCCCTCACAGATCCCCCATCCCCCTCACAGA TCCCCTCCATCCCCCTCACAGATCCCCTCCATCCCCCTCACAGATCCCCT CCATCCCCCTCACAGATCCCCCGTCCCCCTCACAGATCCCCTCCATCCCC CTCACAGATCCCCCGTCCCCTCACGGATCCCCCGTCCCCCTCACAGATCC CCCGTCCCCTCACGGATCCCCTCCATCCCCCTCACAGATCCCCCATCCCC CTCACAGATCCCCTCCATCCCCCTCACAGATCCCCCGTCCCCCTCACAGA TCCCCTCCATCCCCCTCACAGATCCCCCGTCCCCTCACGGATCCCCCGTC CCCCTCACAGATCCCCCATCCCCCTCACGGATCCCCCATCCCCCTCACAG ATCCCCCATCCCCCTCACAGATCCCCCATCCCCCTCACAGATCCCCTCCA TCCCCCTCACAGATCCCCTCCATCCCCCTCACAGATCCCCTCCATCCCCC TCACAGATCCCCCATCCCCCTCACAGATCCCCTCCATCCCCCTCACAGAT CCTCCATCCCCCTCACAGATCCCCCATCCCCCTCACAGATCCCCCATCCC CCTCACGGATCCCCCATCCCCCTCACAGATCCCCTCCATCCCCCTCACAG ATCCCCTCCATCCCCCTCACAGATCCCCTCCATCCCCCTCACAGATCCCC TCCATCCCCCTCACAGATCCCCCGTCCCCCTCACAGATCCCCTCCATCCC CCTCACAGATCCCCCGTCCCCTCACAGATCCCCCGTCCCCCTCACAGATC CCCCATCCCCCTCACAGATCCCCCGTCCCCTCACAGATCCCCCGTCCCC	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding		2612		chr7	TogoVar
SDK1_chr7_3296252_4274000	4083708	T T	TCCTCCCT others(2026): Show TCCTCCCTCCCTTCTTACTTCCTCCCTCCCTTCTTTACTTCTCCCTCCCT CCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTC CTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCT TCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTC CTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCT CCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCTCCCTTCTTTACTTCC TCCCTCCCTCCTTTACTTCTTCCCTCCCTCCTTTACTTCCTCCCTCCCTC CTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTTCTTTACTTCCTCCC TCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCTTCCCTCCCTCCTTT ACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCC TCCCTTCTTTACTTCCTCCCTTCTTTACTTCTTCCCTCCCTCCTTTACTT CCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTTCT TTACTTCTTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTC CCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCT TTACTTCTTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTC CCTCCCTTCTTTACTTCCTCCCTTCTTTACTTCTTCCCTCCCTCCTTTAC TTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTC CCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCTTCCCTCCCTCCTTTAC TTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTT CTTTACTTCTTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCC TCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTC CTTTACTTCTTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCC TCCCTCCCTTCTTTACTTCCTCCCTCCTTTACTTCTTCCCTCCCTCCTTT ACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCC TCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCTTCCCTCCCTCCTTT ACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCC TTCTTTACTTCTTCCCTCCCTCCTTTACTTCCTCTCTCCCTTCTTTACTT CCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCC TCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTT CCTCCCTTCTTTACTTCTTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCT TTACTTCCTCTCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTC CCTCCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCT TTACTTCCTCTCTCCCTTCTTTACTTCCTCCCTTCTTTACTTCTTCCCTC CCTCCTTTACTTCCTCTCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTAC TTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCTTCCCTC CCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTAC TTCCTCCCTTCTTTACTTCTTCCCTCCCTCCTTTACTTCCTCCCTCCCTC CTTTACTTCCTCCCTTCTTTACTTCCTCCCTTCTTTACTTCTTCCCTCCC TCCTTTACTTCCTCTCTCCCTTCTTTACTTCCTCTCTCCCTTCTTTACTT CCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCC TCCTTTACTTCCTCCCTCCCTCCTTTACTTGCTC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0087 a0001c0087	a0001c0087t0009 a0001c0087t0009	a0001c0087t0009g0054 a0001c0087t0009g0054	1	116	0.0086	2033	c.332 others(2052): Show c.3324+4139_3324+4140insACTTCCTCCCTCCCTTCTTTACTTCT CCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTCC TTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCT CCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTC TTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCT CCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCTCCCTTCT TTACTTCCTCCCTCCCTCCTTTACTTCTTCCCTCCCTCCTTTACTTCCTC CCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTTCTTTAC TTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCTTCCCTC CCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTAC TTCCTCCCTCCCTTCTTTACTTCCTCCCTTCTTTACTTCTTCCCTCCCTC CTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCC TCCCTTCTTTACTTCTTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTT ACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCC TCCCTTCTTTACTTCTTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTT ACTTCCTCCCTCCCTTCTTTACTTCCTCCCTTCTTTACTTCTTCCCTCCC TCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTT CCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCTTCCCTCCC TCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTT CCTCCCTTCTTTACTTCTTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCT TTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTC CCTCCCTCCTTTACTTCTTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCT TTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCTTTACTTCTTCCCTC CCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTAC TTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCTTCCCTC CCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTAC TTCCTCCCTTCTTTACTTCTTCCCTCCCTCCTTTACTTCCTCTCTCCCTT CTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCC TCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTT CTTTACTTCCTCCCTTCTTTACTTCTTCCCTCCCTCCTTTACTTCCTCCC TCCCTCCTTTACTTCCTCTCTCCCTTCTTTACTTCCTCCCTCCCTTCTTT ACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCC TCCCTCCTTTACTTCCTCTCTCCCTTCTTTACTTCCTCCCTTCTTTACTT CTTCCCTCCCTCCTTTACTTCCTCTCTCCCTTCTTTACTTCCTCCCTCCC TTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTT CTTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCC TTCTTTACTTCCTCCCTTCTTTACTTCTTCCCTCCCTCCTTTACTTCCTC CCTCCCTCCTTTACTTCCTCCCTTCTTTACTTCCTCCCTTCTTTACTTCT TCCCTCCCTCCTTTACTTCCTCTCTCCCTTCTTTACTTCCTCTCTCCCTT CTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCC TCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTGCTCCCTCCCTC CCTTCTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	22/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SLC1A2_chr11_35246205_35424558	35248646	G G	GATTACTA others(2026): Show GATTACTAGCAGTGCATGGATCACCTGGGGATTACTAGTGGTGCATGGAT CACCAGGTGATTACTAGTGCTACATGGATCACCAGGGGATTACTAGCAGT GCATGGATAACCTGGGGATTACTAGCAGTCCATGGATCACCTGGGGATTA CTAGCAGTGCATGGATCACCAGGGGATTACTAGTGGTGCATGGATCACCA GGTGATTACTAGTGCTACATGGATCACCAGGGGATTACTAGCAGTGTATG GATCACCAGGGGATTACTAGCGGTCCATGGATCACCAGGGGATTACTAGC AGTGCATGGATCACCAGGGGATTACTAGCAGTGTATGGATCACCAGGGGA TTACTAGCGGTGCATGGATCACCAGGGGATTATTAGCAGTGTATGGATCA CCAGGGGATTACTAGCAGTGCATGGATCACCAGGGGATTACTAGCAGTGC ATGGATCACCAGGGGATTACTAGCGGTCCATGGATCACCAGGGGATTACT AGCAGTGCATGGATCACCAGGGGATTACTAACAGTGCATGGATCACGAGG GTATTACTAGCAGTGTATGGATCACCAGGGGATTACAAGCGGTGTATGGA TCACTAGGGGATTACTAGCAGTGCATGGATCACCAGGGGATTATTAGCAG TGCATGGATCACCAGGGGATTACTAGCGGTGCATGGATCACCAGGGGATT ACTAGCAGTGCATGGATCACCAGGGGATTACTAGCGGTGCATGGATCACC AGGTGATTACTAGTGCTACATGGATCACCAGGGGATTACAAGCGGTGTAT GGATCACTAGGGGATTATTAGCAGTGCATGGATCACCAGGGGATTACTAG CAGTGCATGGATCACCAGGGGATTACTAGCAGTGCATGGATCACCAGGGG ATTACTAGCAGTGCATGGATCACCAGGGGATTACTAGCAGTGCATGGATC ACCAGGGGATTACTAGCAGTGCATGGATCACCAGGGGATTATTAGCAGTG TATGGATCACCAGGGGATTACTAGCGGTGCATGGATCACCAGGGGATTAC TAGCGGTGCATGGATCACCAGGGGATTACTAGCGGTGCATGGATCACCAG GGGATTACTAGCGGTGCATGGATCACCAGGGGATTACTAGCGGTGCATGG ATCACCAGGGGATTACTAGCAGTGCATGGATCACCAGGGGATTACTAGTG GTGCATGGATCACCAGGGGATTACTAGTGGTGCATGGATCACCAGGTGAT TACTAGTGCTACATGGATCACCAGGGGATTACAAGCGGTGTATGGATCAC TAGGGGATTATTAGCGGTGCATGGATCACCAGGGGATTACTAGCAGTGCA TGGATCACCAGGGGATTACTAGCAGTGCATGGATCACCAGGGGATTACTA GCAGTGCATGGATCACCAGGGGATTACTAGCAGTGCATGGATCACCAGGG GATTACTAGCAGTGCATGGATCACCAGGGGATTATTAGCAGTGTATGGAT CACCAGGGGATTACTAGCGGTGCATGGATCACCAGGGGATTACTAGCGGT GCATGGATCACCAGGGGATTACTAGCGGTGCATGGATCACCAGGGGATTA CTAGCGGTGCATGGATCACCAGGGGATTACTAGCGGTGCATGGATCACCA GGGGATTACTAGCGGTGCATGGATCACCAGGGGATTACTAGCAGTGCATG GATCACCAGGGGATTATTAGCGGTGTATGGATCACCAGGGGATTACTAGC GGTGTATGGATCACCAGGGGATTACTAGCGGTGCATGGATCACCAGGGGA TTACTAGCGGTGCATGGATCACCAGGGGATTACTAGCAGTGTATGGATCA CCAGGGGATTACTAGCAGTGCATGGATCACCAGGGGATTACTAGCAGTGC ATGGATCACCAGGGGATTACTAGCAGTGCATGGATCACCAGGGGATTACT AGCAGTGCATGGATCACCAGGGGATTATTAGCAGTGTATGGATCACCAGG GGATTACTAGCGGTGTATGGATCACCAGGGGATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0272 a0001c0001t0035g0274 a0001c0001t0035g0272 a0001c0001t0035g0274	2	306	0.0065	2033	c.12 others(2046): Show c.12247_*12248insAATCCCCTGGTGATCCATACACCGCTAGTAAT CCCCTGGTGATCCATACACTGCTAATAATCCCCTGGTGATCCATGCACTG CTAGTAATCCCCTGGTGATCCATGCACTGCTAGTAATCCCCTGGTGATCC ATGCACTGCTAGTAATCCCCTGGTGATCCATGCACTGCTAGTAATCCCCT GGTGATCCATACACTGCTAGTAATCCCCTGGTGATCCATGCACCGCTAGT AATCCCCTGGTGATCCATGCACCGCTAGTAATCCCCTGGTGATCCATACA CCGCTAGTAATCCCCTGGTGATCCATACACCGCTAATAATCCCCTGGTGA TCCATGCACTGCTAGTAATCCCCTGGTGATCCATGCACCGCTAGTAATCC CCTGGTGATCCATGCACCGCTAGTAATCCCCTGGTGATCCATGCACCGCT AGTAATCCCCTGGTGATCCATGCACCGCTAGTAATCCCCTGGTGATCCAT GCACCGCTAGTAATCCCCTGGTGATCCATGCACCGCTAGTAATCCCCTGG TGATCCATACACTGCTAATAATCCCCTGGTGATCCATGCACTGCTAGTAA TCCCCTGGTGATCCATGCACTGCTAGTAATCCCCTGGTGATCCATGCACT GCTAGTAATCCCCTGGTGATCCATGCACTGCTAGTAATCCCCTGGTGATC CATGCACTGCTAGTAATCCCCTGGTGATCCATGCACCGCTAATAATCCCC TAGTGATCCATACACCGCTTGTAATCCCCTGGTGATCCATGTAGCACTAG TAATCACCTGGTGATCCATGCACCACTAGTAATCCCCTGGTGATCCATGC ACCACTAGTAATCCCCTGGTGATCCATGCACTGCTAGTAATCCCCTGGTG ATCCATGCACCGCTAGTAATCCCCTGGTGATCCATGCACCGCTAGTAATC CCCTGGTGATCCATGCACCGCTAGTAATCCCCTGGTGATCCATGCACCGC TAGTAATCCCCTGGTGATCCATGCACCGCTAGTAATCCCCTGGTGATCCA TACACTGCTAATAATCCCCTGGTGATCCATGCACTGCTAGTAATCCCCTG GTGATCCATGCACTGCTAGTAATCCCCTGGTGATCCATGCACTGCTAGTA ATCCCCTGGTGATCCATGCACTGCTAGTAATCCCCTGGTGATCCATGCAC TGCTAGTAATCCCCTGGTGATCCATGCACTGCTAATAATCCCCTAGTGAT CCATACACCGCTTGTAATCCCCTGGTGATCCATGTAGCACTAGTAATCAC CTGGTGATCCATGCACCGCTAGTAATCCCCTGGTGATCCATGCACTGCTA GTAATCCCCTGGTGATCCATGCACCGCTAGTAATCCCCTGGTGATCCATG CACTGCTAATAATCCCCTGGTGATCCATGCACTGCTAGTAATCCCCTAGT GATCCATACACCGCTTGTAATCCCCTGGTGATCCATACACTGCTAGTAAT ACCCTCGTGATCCATGCACTGTTAGTAATCCCCTGGTGATCCATGCACTG CTAGTAATCCCCTGGTGATCCATGGACCGCTAGTAATCCCCTGGTGATCC ATGCACTGCTAGTAATCCCCTGGTGATCCATGCACTGCTAGTAATCCCCT GGTGATCCATACACTGCTAATAATCCCCTGGTGATCCATGCACCGCTAGT AATCCCCTGGTGATCCATACACTGCTAGTAATCCCCTGGTGATCCATGCA CTGCTAGTAATCCCCTGGTGATCCATGGACCGCTAGTAATCCCCTGGTGA TCCATACACTGCTAGTAATCCCCTGGTGATCCATGTAGCACTAGTAATCA CCTGGTGATCCATGCACCACTAGTAATCCCCTGGTGATCCATGCACTGCT AGTAATCCCCAGGTGATCCATGGACTGCTAGTAATCCCCAGGTTATCCAT GCACTGCTAGTAATCCCCTGGTGATCCATGTAGCACTAGTAATCACCTGG TGATCCATGCACCACTAGTAATCCCCAGGTGATCCATGCACTGCTAGTAA T	SLC1A2	ENSG00000110436.13	transcript	ENST00000278379.9	protein_coding		2558		chr11	TogoVar
SLC38A10_chr17_81239811_81300307	81249456	G G	GAGGAGGG others(2026): Show GAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGCAAGA GGAGGGAGAAGGAGGGAGAAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGG AGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGCAAGAGGAGGGAG AAGGAGGGAGAAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAG GGAGGGAAGAGGAGGGAGAAGGAGGGAGAAGGAGGGAGGAGGAGGGAGAA GGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGG AGGGAAGAGGAGGGAGAAGGAGGGAGGAGGAGGGAGAAGGAGGGAGGGAA GAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAAGAGGAG GGAGAAGGAGGGAGGCAAGAGGAGGGAGAAGGAGGGAGAAGGAGGGAGAA GGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGCAAGAGGAGGGAGAAGG AGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGCAAGAGGAGGGAGAAGGAG GGAGAAGGAGGGAGGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAA GGAGGGAGGCAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGG AGGGAGAAGGAGGGAGGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAG AAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAAGAGGAGGGAGAAGGAG GGAGGCAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGG AGGCAAGAGGAGGGAGAAGGAGGGAGGAGGAGGGAGAAGGAGGGAGGGAA GAGGAGGGAGAAGGAGGGAGGAGGAGGGAGAAGGAGGGAGGCAAGAGGAG GGAGAAGGAGGGAGGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAA GGAGGGAAGAGGAGGGAGAAGGAGGGAGGCAAGAGGAGGGAGAAGGAGGG AGGGAAGAGGAGGGAGAAGGAGGGAGGCAAGAGGAGGGAGAAGGAGGGAG GAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGA GGAGGGAGAAGGAGGGAAGAGGAGGGAGAAGGAGGGAGGCAAGAGGAGGG AGAAGGAGGGAGAAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGG AGGGAGGCAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAG GGAGAAGGAGGGAGGAGGAGGGAGGAGGGAGGGAAGAGGAGGGAGAAGGA GGGAGGGAAGAGGAGGGAGAAGGAGGGAAGAGGAGGGAGAAGGAGGGAGG CAAGAGGAGGGAGAAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAG GGGGGAGGCAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGA GGGAGGCAAGAGGAGGGAGAAGGAGGGAGAAGGAGGGAGAAGGAGGGAGA AGGGAGGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAG GGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGG AGGAGGGAGGGAAGAGGAGGGAGAAAGAGGGAGGGAAGAGGAGGGAGAAG GAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGA GGGAGGGAAGAGGAAGGAGAAGGAGGGAGGGAGGAGGGAGGGAAGAGGAG GGAGAAAGAGGGAGGGAAGAGGAGGGAAAAGGAGGGAGGGAAGAGGAGGG AGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAG AAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAA GGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGG AGGGAGGGAGAAGGAAGGAGGGAAGAGGGAGAAGAGAGGAGGGAGAAAGA GGGAGGCAAGAGGAGGGAGGAGAGAGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0036 a0001c0008t0001g0036	1	214	0.0047	2033	c.206 others(2052): Show c.2065+2036_2065+2037insTCTCCCTCCTCTCTCCTCCCTCCTCT TGCCTCCCTCTTTCTCCCTCCTCTCTTCTCCCTCTTCCCTCCTTCCTTCT CCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCC CTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCT CCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCC CTCCTTCTCCCTCCTCTTCCCTCCCTCCTTTTCCCTCCTCTTCCCTCCCT CTTTCTCCCTCCTCTTCCCTCCCTCCTCCCTCCCTCCTTCTCCTTCCTCT TCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTC CCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCTTTCTCCCTCCTCTTCCC TCCCTCCTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCT CCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCC TCCTCCCTTCTCCCTCCTTCTCCCTCCTTCTCCCTCCTTCTCCCTCCTCT TGCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTG CCTCCCCCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTTCTCCC TCCTCTTGCCTCCCTCCTTCTCCCTCCTCTTCCCTCCTTCTCCCTCCTCT TCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTCCCTCCTCCTCCCT CCTTCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTT GCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTTCTCC CTCCTTCTCCCTCCTCTTGCCTCCCTCCTTCTCCCTCCTCTTCCCTCCTT CTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCT CCCTCCTCCTCCCTCCTTCTCCCTCCTCTTGCCTCCCTCCTTCTCCCTCC TCTTCCCTCCCTCCTTCTCCCTCCTCTTGCCTCCCTCCTTCTCCCTCCTC TTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCCTCCCT CCTTCTCCCTCCTCTTGCCTCCCTCCTTCTCCCTCCTCCTCCCTCCTTCT CCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCCTCCCTCCTTCTCCCTCC TCTTGCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTC TTGCCTCCCTCCTTCTCCCTCCTCTTCCCTCCTTCTCCCTCCTCTTCCCT CCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCCTCCCTCC TTCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTGC CTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCCTCCCT CCTTCTCCCTCCTTCTCCCTCCTCTTGCCTCCCTCCTTCTCCCTCCTCTT CCCTCCCTCCTTCTCCCTCCTCTTGCCTCCCTCCTTCTCCCTCCTCTTCC CTCCCTCCTTCTCCCTCCTTCTCCCTCCTTCTCCCTCCTCTTGCCTCCCT CCTTCTCCCTCCTCTTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCT CCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCCTCCCTCCTTCTCCCTCC TCTTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCC CTCCCTCCTTCTCCCTCCTCCTCCCTCCTTCTCCCTCCTTCTCCCTCCTC TTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTTCT CCCTCCTTCTCCCTCCTCTTGCCTCCCTCCTTCTCCCTCCTCTTCCCTCC CTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTTCTCCCTCCTT CTCCCTCCTCTTGCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCT CCCTCCT	SLC38A10	ENSG00000157637.13	transcript	ENST00000374759.8	protein_coding	14/15			chr17	TogoVar
SMYD3_chr1_245744347_246512279	246325187	G G	GGGGCGGG others(2026): Show GGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGG AGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGG AGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGA AGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGG GGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAG TCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAG AAGGAGTCGGGGGCCGGGAAGGAGGGAGAAGGAGTCGGGGGGCCGGGAAG GAGGGAGAAGGAGTCGGGGGGCCGGGAAGGAGGGAGAAGGAGTCGGGGGG CCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAG TCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGG AGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCCGGGA AGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGCGGG GGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGA GTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCCGGGAAGGAGGG AGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGG AAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGG GGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAG TCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGCGGGGGCGGGAAGGAGGGA GAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCCGGGA AGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGG GGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGG AGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGG GAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCCGG GAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGCG GGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAA GGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGCGGGGGCGGGAAGG AGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGG CGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGT CGGGGGGGCGGGAAGGAGGGAGAAGGAGTGGGGGGGGCGGGAAGGAGGGA GAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGA AGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGG GGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGGCGGGAAGGAGGGAGAAAG AGTCGGGGGGCCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAG GGAGAAGGAGTCGGGGGGCCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCG GGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCG GGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAG GAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGG GAGAAGGAGTCGCGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGG GAAGGAGGGAGAAGGAGTCGCGGGGGCGGGAAGGAGGGAGAAGGAGTCGG GGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGG AGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0142 a0002c0005t0001g0142	1	150	0.0067	2033	c.531 others(2050): Show c.531+2013_531+2014insGCGACTCCTTCTCCCTCCTTCCCGCCCC CCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCC CGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCGCGACTCCTTCTCCC TCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCGCGACTC CTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCC CGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCC GCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCT CCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGGCCCCCCGACTCC TTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGGCCCC CCGACTCTTTCTCCCTCCTTCCCGCCCCCCCCGACTCCTTCTCCCTCCTT CCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTC CCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGAC TCCTTCTCCCTCCTTCCCGCCCCCCCCACTCCTTCTCCCTCCTTCCCGCC CCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCC TTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTT CTCCCTCCTTCCCGCCCCCGCGACTCCTTCTCCCTCCTTCCCGCCCCCCC GACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCC GCCCCCCGCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCC TCCTTCCCGGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTC CTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCC CCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTC CCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTC CCTCCTTCCCGGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGAC TCCTTCTCCCTCCTTCCCGCCCCCGCGACTCCTTCTCCCTCCTTCCCGCC CCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTT CCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCC CTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACT CCTTCTCCCTCCTTCCCGGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCC CCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTT CCCGCCCCCGCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTC CCTCCTTCCCGGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACT CCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCC CCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCT TCCCGGCCCCCCGACTCCTTCTCCCTCCTTCCCGGCCCCCCGACTCCTTC TCCCTCCTTCCCGGCCCCCCGACTCCTTCTCCCTCCTTCCCGGCCCCCGA CTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCC CCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTT CCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTC CCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACT CCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCC CCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCC CGCCC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNRNP35_chr12_123453139_123471936	123453160	A A	ATATATAT others(2026): Show ATATATATATAAATATATATATATATATAAATATATATATATAAATATAT ATAAATATATATAAATATATATATAAATATATATAAATATATATAAATAT ATATATAAATATATATAAATATATATATAAATATATATAAATATATATAT AAATATATATATAAAAATATATAAAAAATATATAAAAATATATATAAAAA TATATATAAAAATATATATAAATATATATAAATATATATATAAATATAAA TATAAATATATATATAAATATATATATAAATATATATATAAATATATATA TAAATATATATATAAATATATATATAAATATATATATAAATATATATATA AATACATATATATAAAAATATGTATAAATATATATAAATATATATATAAA AATATATATAAATATATAGATAAATATATAGATAAATATATATATAAATA TATAGATAAATATATAGATAAATATATATATAAATATATAGATAAATATA TATAAATATATAGATAAATATATAGATAAATATATATAAATATATAAAAA TATATGTATATAAATATATATATAAATATATATATAAATATATATAAATA TATATATAAATATATATAAATATATATAAATATATATATATAAATATATA TATAAATATATATATAAATATATTTATATATAAATATATATATAAATATA TATATAAATATATATAAATATATATATAAATATATAAAAATATATAAAAA TATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATATATAAATATATATATAAGTATATATAAAAATATATATAAA TATATATAAATATATATAAAAATATATAAAAATATATATAAATATATAAA TATATATAAATATATATAAAAATATATATAAATATATATAAATATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATAAATATA TATATAAATATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATATAAATA TATATAAATATATATAAATATATAAATATATATAAATATATATATAAATA TATATAAATATATATAAATATATATATAAATATATATAAATATATATATA AATATATATAAATATATATAAATATATATATAAATATATATACATATATA TAAATATATATAAATATATATACATATATAAATATATAAAAAATATATAA ATATATAAAAAATATATAAATATATAAAAATATATATAAATATATATAAA TATATATACATATATATACATATATATAAATATATAAAAATATATAAATA TATATAAATATAAATATATACAAATATATATATAAATATGTATAAATATA TAAAAATATATATATAAATATATAAAAATATATATATTAATATATAAAAA TATATATATTAATATATAAAAATATATATAAATATATATATAAATATATA TATATAAATATATATAAAAATATATATAAAAATATATATAAATATATATA TAAATATATATAAATATATATAAATATATATAAATATATATAAATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATATAAATA TATATAAACATATATAAATATATATAAAAATATATATAAATATATATAAA TATATATAAATATATATAAAAATATATATAAATATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATAAAAAATAT ATATAAATATATAAATATATATATATAAATATATATAAATATATAAAAAA AATATATATAAATATATATAAATATATTTATATATATAAATATATTTATA TATAAATATAAATATATATAAATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	186	0.0054	2033	c.-50 others(2044): Show c.-5060_-5059insTATATATATAAATATATATATATATATAAATATA TATATATAAATATATATAAATATATATAAATATATATATAAATATATATA AATATATATAAATATATATATAAATATATATAAATATATATATAAATATA TATAAATATATATATAAATATATATATAAAAATATATAAAAAATATATAA AAATATATATAAAAATATATATAAAAATATATATAAATATATATAAATAT ATATATAAATATAAATATAAATATATATATAAATATATATATAAATATAT ATATAAATATATATATAAATATATATATAAATATATATATAAATATATAT ATAAATATATATATAAATACATATATATAAAAATATGTATAAATATATAT AAATATATATATAAAAATATATATAAATATATAGATAAATATATAGATAA ATATATATATAAATATATAGATAAATATATAGATAAATATATATATAAAT ATATAGATAAATATATATAAATATATAGATAAATATATAGATAAATATAT ATAAATATATAAAAATATATGTATATAAATATATATATAAATATATATAT AAATATATATAAATATATATATAAATATATATAAATATATATAAATATAT ATATATAAATATATATATAAATATATATATAAATATATTTATATATAAAT ATATATATAAATATATATATAAATATATATAAATATATATATAAATATAT AAAAATATATAAAAATATATATATAAATATATATAAATATATATATAAAT ATATATAAATATATATAAATATATATATAAATATATATATAAGTATATAT AAAAATATATATAAATATATATAAATATATATAAAAATATATAAAAATAT ATATAAATATATAAATATATATAAATATATATAAAAATATATATAAATAT ATATAAATATATATATAAATATATATAAATATATATATAAATATATATAA ATATATATAAATATATATATAAATATATATATAAATATATATAAATATAT ATAAATATATATATAAATATATATAAATATATATAAATATATATATAAAT ATATATAAATATATATAAATATATATATAAATATATATAAATATATATAA ATATATATATAAATATATATAAATATATATAAATATATAAATATATATAA ATATATATATAAATATATATAAATATATATAAATATATATATAAATATAT ATAAATATATATATAAATATATATAAATATATATAAATATATATATAAAT ATATATACATATATATAAATATATATAAATATATATACATATATAAATAT ATAAAAAATATATAAATATATAAAAAATATATAAATATATAAAAATATAT ATAAATATATATAAATATATATACATATATATACATATATATAAATATAT AAAAATATATAAATATATATAAATATAAATATATACAAATATATATATAA ATATGTATAAATATATAAAAATATATATATAAATATATAAAAATATATAT ATTAATATATAAAAATATATATATTAATATATAAAAATATATATAAATAT ATATATAAATATATATATATAAATATATATAAAAATATATATAAAAATAT ATATAAATATATATATAAATATATATAAATATATATAAATATATATAAAT ATATATAAATATATATAAATATATATAAATATATATATAAATATATATAA ATATATATATAAATATATATAAACATATATAAATATATATAAAAATATAT ATAAATATATATAAATATATATAAATATATATAAAAATATATATAAATAT ATATATAAATATATATAAATATATATATAAATATATATAAATATATATAA ATATATAAAAAATATATATAAATATATAAATATATATATATAAATATATA TAAATATATAAAAAAAATATATATAAATATATATAAATATATTTATATAT ATAAATATATTTATATATAAATATAAATATATATAAATATATATATATT	SNRNP35	ENSG00000184209.15	transcript	ENST00000526639.3	protein_coding		4978		chr12	TogoVar
VNN1_chr6_132675849_132719055	132706868	C C	CAAAAGAA others(2026): Show CAAAAGAAGTTATACAGCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CGTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCGTCTCCC TCTCCCCACGGTCTCCCTCTCATGCGGAACCGAAGCTGGACTGTACTGCT GCCATCTCGGCTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGTCT GCCGAATGCCTGCGATTGCAGGCACGCGCCGCCACGCCTGACTGGTTTTG GTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCCGGTCTCCAGCCCCTGGC CGCGAGTGATCCGCCAACCTCGGCCTCCCGAGGTGCCGGGATTGCAGACG GAGTCTCGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGC GTGATCTCGGCTCACTACAACCTACACCTCCCAGCCGCCTGCCTTGGCCT CCCAAAGTGCCGAGATTGCAGCCTCTGCCCAGCCGCCACCCCGTCTGGGA AGTGAGGAGTGTCTCTGCCTGGCCGCCCATTGTCTGGGATGTGAGGAGCC CCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCCGCCCGGCC GCCATCCCATCTAGGAAGTGAGGAGCCCTCTTCCCAGCCGCCATCACATC TAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGG GAGCGCCTCTGCCCCGCCGCCCCATCTGGGATGTGAGGAGCGCCTCTGCC CGGCCGAGACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCCGCCCC GTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAACCACCCCGTCTGAGAAG TGAGGAGCCCCTCCGCCCGGCAGCTGCCCCCTCTGAGAAGTGAGGAGCCT CTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCGTCTCCGCCCGG CAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGTGTCAGCCCCCCACCCGGCTAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCACCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCCTCTGGGAGGGAGGTTGGGGGGTCAGCCCCCCTGCC CGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAG GTGTGCCCAACAGCTCATTGAGAATGGGCCGGGATGACAATGGCGGCTTT GTGGAGTAGAAAGGCGGGAAAGGTGGGGAAGGGATTGAGAAGTCGGATGG TTGCCGTGTCTGTGTGGAAGGAAGTGGACATGGGAGACTTTTCATTTTGT TCTGCACTGGGAGAAATTCCTCTGCCTTGGGATCCTGTTGATCTGTGACC TTGCCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGT TAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGA AGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTAATCTCAAGTAATC AGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACC AGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTC CCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATTATCAA TAAAAAAATAAATTTAAATAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG01257.hp1 others(25): Show HG00621.hp2 HG00735.hp1 HG01257.hp1 HG01261.hp2 HG01361.hp1 HG01496.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG02004.hp2 HG02040.hp1 HG02080.hp2 HG02135.hp2 HG02300.hp2 HG02602.hp2 HG03831.hp2 HG04199.hp1 NA18942.hp2 NA18952.hp1 NA18954.hp2 NA18956.hp1 NA18961.hp2 NA18974.hp2 NA19062.hp2 NA19065.hp2 NA19090.hp1 NA20805.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0025 a0001c0001 a0013c0025	a0001c0001t0003 a0013c0025t0003 a0001c0001t0003 a0013c0025t0003	a0001c0001t0003g0003 a0001c0001t0003g0015 a0001c0001t0003g0042 others(9): Show a0001c0001t0003g0003 a0001c0001t0003g0015 a0001c0001t0003g0042 a0001c0001t0003g0137 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0206 a0013c0025t0003g0212	28	418	0.0670	2033	c.341 others(2050): Show c.341+4840_341+4841insTTTTTTTTTTTTTTTATTTAAATTTATT TTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGG TCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAG GTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGT GTCCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATG CTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATC CATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGG GGGCAAGGTCACAGATCAACAGGATCCCAAGGCAGAGGAATTTCTCCCAG TGCAGAACAAAATGAAAAGTCTCCCATGTCCACTTCCTTCCACACAGACA CGGCAACCATCCGACTTCTCAATCCCTTCCCCACCTTTCCCGCCTTTCTA CTCCACAAAGCCGCCATTGTCATCCCGGCCCATTCTCAATGAGCTGTTGG GCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCAGGGGGGCTGACCCCCCAACCTCCCTCCCAGAGGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTAGCCGGGTGGGGGGCTGACACC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG TGGCTGCCGGGCGGAGACGCTCCTCACTTCCCAGATGGGGTGGCTGCCGG GCGGAGAGGCTCCTCACTTCTCAGAGGGGGCAGCTGCCGGGCGGAGGGGC TCCTCACTTCTCAGACGGGGTGGTTGCCAGGCAGAGGGTCTCCTCACTTC TCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCAGACGGGGTCT CGGCCGGGCAGAGGCGCTCCTCACATCCCAGATGGGGCGGCGGGGCAGAG GCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCAC TTCCTAGATGTGATGGCGGCTGGGAAGAGGGCTCCTCACTTCCTAGATGG GATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGG CAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCAGAGACACTC CTCACTTCCCAGACGGGGTGGCGGCTGGGCAGAGGCTGCAATCTCGGCAC TTTGGGAGGCCAAGGCAGGCGGCTGGGAGGTGTAGGTTGTAGTGAGCCGA GATCACGCCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAACG AGACTCCGTCTGCAATCCCGGCACCTCGGGAGGCCGAGGTTGGCGGATCA CTCGCGGCCAGGGGCTGGAGACCGGCCCGGCCAACACAGCGAAACCCCGT CTCCACCAAAACCAGTCAGGCGTGGCGGCGCGTGCCTGCAATCGCAGGCA TTCGGCAGACTGAGGCAGGAGAATCAGGCAGGGAGGTTGCAGTGAGCCGA GATGGCAGCAGTACAGTCCAGCTTCGGTTCCGCATGAGAGGGAGACCGTG GGGAGAGGGAGACGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGACGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGCTGTATAACTT CTTTT	VNN1	ENSG00000112299.8	transcript	ENST00000367928.5	protein_coding	2/6			chr6	TogoVar
ADGRE2_chr19_14727392_14783560	14763755	C C	CCTCTCCT others(2027): Show CCTCTCCTCCTCCTCCTCTTGTCCACCACCTCCTCCTCTCCTCCTCCTCT TCTGCTCCTCTTCCTCCTCTCCTCCTCCTCTCCACCTCCTCCTCTCCTCC TTGTCTCCTCCTCTCTTCCTCTCCTCGTCCTCTCCTCCTCCTCTCCTCTT CCTCTCCTCGTCCTCTCCTCCTCCTCTCCCCTTCCTCCTCTCCTCCCCCT CCTCCTCTCCTCCTCCTCCTCCTCTCCTCCCCCTCCTCCTCTCCTCCTCC TCCTCTCCTCCTCCTCCTCTCCTTCCCTTCCTCCTCCTCTCCTCCCCTTC CTCCTCCTCTTCTCCTCCTCCTCTCCTCTTCTCCTCCTCCTCTCTTCCTC CTCTCCTCCTCCTCCTCTCCTCCCCTTCCTCCTCCTCTCCTCCCCTTCCT CCTCCTCTTCTCCTCCTCCTCTCCTCTTCTCCTCCTCCTCTCTTCCTCCT CTCCTCCTCCTCCTCTTCTTTTCCTCTCCTCCTCCTCTCTTCCTTCTCTC CTCCTCTCCTCTTCCTCTCCTTCTCCTCTCCTCTTCCTGCTCCTCTCGTC CTCCTCCCCTCCTCCTCCCCCTCTCCTCCTCCCCCTCTCCTCCTCCCCCT CTCCTCCTCCCCCTCTCCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCT CCTCCTCTCCTCCTCTCTTCCTCCTCTCCTCCTCTCTTCCTCCTCTCCTC CTCTCCTCTTCCTCTCCTTCTCCTCTCCTCATCCTGCTCCTCTTGTCCTC CTCTCCTCCTCCTTCTCTCCTCTTCCTGCTCCTCTCGTCCTCCTCTCGTC CTCCTCTCCTCCTCCTCTCCTCTTCCTCTCCTGCCCCTCCTCCTCCTCTC CTCCTCCTCCTCCTCCTCTCCTCCCCCTCCTCCTCCTCCTCTCCTCCCCC TCCTCCTCTCCTCCCCTTCCTCCTCCTCTTCTCCTCCTCCTCTCCTCTTC CTCTCCTCCTCCTCTCTTCCTCCTCTCCTCCTCCTCTTCTTTTCCTCTCC TCCTCCTCTCTTCCTTCTCTCCTCCTCTCCTCTTCCTCTCCTTCTCCTCT CCTCTTCCTGCTCCTCTCGTCCTCCTCTCCTCCTCCTCTCCTCTTCCTGC TCCTCTCGTCCTCCTCTCCTCCTCCTCTCCTCTTCCTCTCCTGCCCCTCC TCCTCTCCTCCTCCTCCCCTTCTCCTCCTCCCCCTCCTCCTCCCCTCTCC TCCTCCCCCTCTCCTCCTTCCCCTCTCCTCCTCCCCCCTCCTCCTCCCCC TCTCCTCCTCCCCCTCTCCTCCTTCCCCTCTCCTCCTCCCCCATCCTCCT CCCCCTCTCCTCCTCCCCCTCCCCTCCTCCCCCTCTCCTCCTCCCCCTCC TCCTCCTCTCCTCCTCCTCCTCTCCTCCTCCTCCTCTCCTCCTCCTCTTT TCCTCCTCTCCTCCTCTCCTCTTCCTCTCCTTCTCCTCCCCTCATCCTGC TCCTCTCGTCCTCCTCTCCTCCTCCTTCTCTCCTCTTCCTGCTCCTCTCG TCCTCCTCTCCTCCTCCTCTCCTCTTCCTCTCCTGCCCCTCCTCCTCTCC TGCCCCCTCCTCCTCTCCTGCCCCTCCTCCTCTCCTCCCCCTCCTCCTCT CCTCCCCTTCCTCCTCTTCTCCTCCTCCTCTCCTCTTCCTCTCCTCCTCC TCTCTTCCTCCTCTCCTCCTCCTCCTCTTCTTTTCCTCTCCTCCTCCTCT CTTCCTTCTCTCCTCCTCTCCTCTTCCTCTCCTTCTCCTCTCCTCCTCCT CTCTTCCTCTCCTCCTCCTCTCCTCTTTTCCTCATCCTCTCCTCCTTCTC CTCTCCTCTGCCTCCTCCTCTCCTCCTCCTTGTCTCCTCCTCCTACCCTC CTCCTTCCCTCTTCCTCCTCTCCTCCTCCTCTTCTTTTCCTCCTCTCCTC CTTCTTGTCTCCTCCCCGTCCTCTTCTCCTTCCCTCTTCCTCCTCCACTC CTCCTCCTCTCCTCCTTCTCCTCCTCCTCCTCTCCTCCTTCTTCTCTCCT CCTCCACTCCTCCTCTTCCTCCTCTCCTCCTCCTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0008 a0008	a0008c0042 a0008c0042	a0008c0042t0031 a0008c0042t0031	a0008c0042t0031g0039 a0008c0042t0031g0039	1	218	0.0046	2034	c.108 others(2051): Show c.1084+677_1084+678insAAGGAGGAGGAGAGGAGGAAGAGGAGGA GTGGAGGAGGAGAGAAGAAGGAGGAGAGGAGGAGGAGGAGAAGGAGGAGA GGAGGAGGAGTGGAGGAGGAAGAGGGAAGGAGAAGAGGACGGGGAGGAGA CAAGAAGGAGGAGAGGAGGAAAAGAAGAGGAGGAGGAGAGGAGGAAGAGG GAAGGAGGAGGGTAGGAGGAGGAGACAAGGAGGAGGAGAGGAGGAGGCAG AGGAGAGGAGAAGGAGGAGAGGATGAGGAAAAGAGGAGAGGAGGAGGAGA GGAAGAGAGGAGGAGGAGAGGAGAAGGAGAGGAAGAGGAGAGGAGGAGAG AAGGAAGAGAGGAGGAGGAGAGGAAAAGAAGAGGAGGAGGAGGAGAGGAG GAAGAGAGGAGGAGGAGAGGAAGAGGAGAGGAGGAGGAGAAGAGGAGGAA GGGGAGGAGAGGAGGAGGGGGAGGAGAGGAGGAGGGGCAGGAGAGGAGGA GGGGGCAGGAGAGGAGGAGGGGCAGGAGAGGAAGAGGAGAGGAGGAGGAG AGGAGGACGAGAGGAGCAGGAAGAGGAGAGAAGGAGGAGGAGAGGAGGAC GAGAGGAGCAGGATGAGGGGAGGAGAAGGAGAGGAAGAGGAGAGGAGGAG AGGAGGAAAAGAGGAGGAGGAGAGGAGGAGGAGGAGAGGAGGAGGAGGAG AGGAGGAGGAGGGGGAGGAGGAGAGGGGGAGGAGGGGAGGGGGAGGAGGA GAGGGGGAGGAGGATGGGGGAGGAGGAGAGGGGAAGGAGGAGAGGGGGAG GAGGAGAGGGGGAGGAGGAGGGGGGAGGAGGAGAGGGGAAGGAGGAGAGG GGGAGGAGGAGAGGGGAGGAGGAGGGGGAGGAGGAGAAGGGGAGGAGGAG GAGAGGAGGAGGGGCAGGAGAGGAAGAGGAGAGGAGGAGGAGAGGAGGAC GAGAGGAGCAGGAAGAGGAGAGGAGGAGGAGAGGAGGACGAGAGGAGCAG GAAGAGGAGAGGAGAAGGAGAGGAAGAGGAGAGGAGGAGAGAAGGAAGAG AGGAGGAGGAGAGGAAAAGAAGAGGAGGAGGAGAGGAGGAAGAGAGGAGG AGGAGAGGAAGAGGAGAGGAGGAGGAGAAGAGGAGGAGGAAGGGGAGGAG AGGAGGAGGGGGAGGAGAGGAGGAGGAGGAGGGGGAGGAGAGGAGGAGGA GGAGGAGGAGAGGAGGAGGAGGGGCAGGAGAGGAAGAGGAGAGGAGGAGG AGAGGAGGACGAGAGGAGGACGAGAGGAGCAGGAAGAGGAGAGAAGGAGG AGGAGAGGAGGACAAGAGGAGCAGGATGAGGAGAGGAGAAGGAGAGGAAG AGGAGAGGAGGAGAGGAGGAAGAGAGGAGGAGAGGAGGAAGAGAGGAGGA GAGGAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGAGAGGGGGA GGAGGAGAGGGGGAGGAGGAGAGGGGGAGGAGGAGAGGGGGAGGAGGAGG GGAGGAGGACGAGAGGAGCAGGAAGAGGAGAGGAGAAGGAGAGGAAGAGG AGAGGAGGAGAGAAGGAAGAGAGGAGGAGGAGAGGAAAAGAAGAGGAGGA GGAGGAGAGGAGGAAGAGAGGAGGAGGAGAAGAGGAGAGGAGGAGGAGAA GAGGAGGAGGAAGGGGAGGAGAGGAGGAGGAAGGGGAGGAGAGGAGGAGG AGGAGAGGAGGAAGAGAGGAGGAGGAGAAGAGGAGAGGAGGAGGAGAAGA GGAGGAGGAAGGGGAGGAGAGGAGGAGGAAGGGAAGGAGAGGAGGAGGAG GAGAGGAGGAGGAGGAGAGGAGGAGGGGGAGGAGAGGAGGAGGAGGAGGA GAGGAGGAGGGGGAGGAGAGGAGGAAGGGGAGAGGAGGAGGAGAGGACGA GGAGAGGAAGAGGAGAGGAGGAGGAGAGGACGAGGAGAGGAAGAGAGGAG GAGACAAGGAGGAGAGGAGGAGGTGGAGAGGAGGAGGAGAGGAGGAAGAG GAGCAGAAGAGGAGGAGGAGAGGAGGAGGTGGTGGACAAGAGGAGGAGGA GGAGAG	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	11/20			chr19	TogoVar
ADGRE2_chr19_14727392_14783560	14763755	C C	CCTCTCCT others(2027): Show CCTCTCCTCCTCCTCCTCTTGTCCACCACCTCCTCCTCTCCTCCTCCTCT TCTGCTCCTCTTCCTCCTCTCCTCCTCCTCTCCACCTCCTCCTCTCCTCC TTGTCTCCTCCTCTCTTCCTCTCCTCGTCCTCTCCTCCTCCTCTCCTCTT CCTCTCCTCGTCCTCTCCTCCTCCTCTCCCCTTCCTCCTCTCCTCCCCCT CCTCCTCTCCTCCTCCTCCTCCTCTCCTCCCCCTCCTCCTCTCCTCCTCC TCCTCTCCTCCTCCTCCTCTCCTTCCCTTCCTCCTCCTCTCCTCCCCTTC CTCCTCCTCTTCTCCTCCTCCTCTCCTCTTCTCCTCCTCCTCTCTTCCTC CTCTCCTCCTCCTCCTCTCCTCCCCTTCCTCCTCCTCTCCTCCCCTTCCT CCTCCTCTTCTCCTCCTCCTCTCCTCTTCTCCTCCTCCTCTCTTCCTCCT CTCCTCCTCCTCTCTTCCTCCTCTCCTCCTCCTCCTCTTCTTTTCCTCTC CTCCTCCTCTCTTCCTTCTCTCCTCCTCTCCTCTTCCTCTCCTTCTCCTC TCCTCTTCCTGCTCCTCTCGTCCTCCTCCCCTCCTCCTCCCCCTCTCCTC CTCCCCCTCTCCTCCTCCCCCTCTCCTCCTCCCCCTCTCCTCCTCCCCCT CCCCTCCTCCCCCTCCCCTCCTCCTCCTCTCCTCCTCTCTTCCTCCTCTC CTCCTCTCTTCCTCCTCTCCTCCTCTCCTCTTCCTCTCCTTCTCCTCTCC TCATCCTGCTCCTCTTGTCCTCCTCTCCTCCTCCTTCTCTCCTCTTCCTG CTCCTCTCGTCCTCCTCTCGTCCTCCTCTCCTCCTCCTCTCCTCTTCCTC TCCTGCCCCTCCTCCTCCTCTCCTCCTCCTCCTCCTCCTCTCCTCCCCCT CCTCCTCCTCCTCTCCTCCCCCTCCTCCTCTCCTCCCCTTCCTCCTCCTC TTCTCCTCCTCCTCTCCTCTTCCTCTCCTCCTCCTCTCTTCCTCCTCTCC TCCTCCTCTTCTTTTCCTCTCCTCCTCCTCTCTTCCTTCTCTCCTCCTCT CCTCTTCCTCTCCTTCTCCTCTCCTCTTCCTGCTCCTCTCGTCCTCCTCT CCTCCTCCTCTCCTCTTCCTGCTCCTCTCGTCCTCCTCTCCTCCTCCTCT CCTCTTCCTCTCCTGCCCCTCCTCCTCTCCTCCTCCTCCCCTTCTCCTCC TCCCCCTCCTCCTCCCCCTCTCCTCCTCCCCCTCTCCTCCTTCCCCTCTC CTCCTCCCCCCTCCTCCTCCCCCTCTCCTCCTCCCCCTCTCCTCCTTCCC CTCTCCTCCTCCCCCATCCTCCTCCCCCTCTCCTCCTCCCCCTCCCCTCC TCCCCCTCTCCTCCTCCCCCTCCTCCTCCTCTCCTCCTCCTCCTCTCCTC CTCCTCCTCTCCTCCTCCTCTTTTCCTCCTCTCCTCCTCTCCTCTTCCTC TCCTTCTCCTCCCCTCATCCTGCTCCTCTCGTCCTCCTCTCCTCCTCCTC TCCTCTTCCTCTCCTGCCCCTCCTCCTCTCCTGCCCCTCCTCCTCTCCTC CCCCTCCTCCTCTCCTCCCCCTCCTCCTCTCCTCCCCCTCCTCCTCTCCT CCCCTTCCTCCTCCTCTTCTCCTCCTCCTCTCCTCTTCCTCTCCTCCTCC TCTCTTCCTCCTCTCCTCCTCCTCCTCTTCTTTTCCTCTCCTCCTCCTCT CTTCCTTCTCTCCTCCTCTCCTCTTCCTCTCCTTCTCCTCTCCTCCTCCT CTCTTCCTCTCCTCCTCCTCTCCTCTTTTCCTCATCCTCTCCTCCTTCTC CTCTCCTCTGCCTCCTCCTCTCCTCCTCCTTGTCTCCTCCTCCTACCCTC CTCCTTCCCTCTTCCTCCTCTCCTCCTCCTCTTCTTTTCCTCCTCTCCTC CTTCTTGTCTCCTCCCCGTCCTCTTCTCCTTCCCTCTTCCTCCTCCACTC CTCCTCCTCTCCTCCTTCTCCTCCTCCTCCTCTCCTCCTTCTTCTCTCCT CCTCCACTCCTCCTCTTCCTCCTCTCCTCCTCCTT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	218	0.0046	2034	c.108 others(2051): Show c.1084+677_1084+678insAAGGAGGAGGAGAGGAGGAAGAGGAGGA GTGGAGGAGGAGAGAAGAAGGAGGAGAGGAGGAGGAGGAGAAGGAGGAGA GGAGGAGGAGTGGAGGAGGAAGAGGGAAGGAGAAGAGGACGGGGAGGAGA CAAGAAGGAGGAGAGGAGGAAAAGAAGAGGAGGAGGAGAGGAGGAAGAGG GAAGGAGGAGGGTAGGAGGAGGAGACAAGGAGGAGGAGAGGAGGAGGCAG AGGAGAGGAGAAGGAGGAGAGGATGAGGAAAAGAGGAGAGGAGGAGGAGA GGAAGAGAGGAGGAGGAGAGGAGAAGGAGAGGAAGAGGAGAGGAGGAGAG AAGGAAGAGAGGAGGAGGAGAGGAAAAGAAGAGGAGGAGGAGGAGAGGAG GAAGAGAGGAGGAGGAGAGGAAGAGGAGAGGAGGAGGAGAAGAGGAGGAG GAAGGGGAGGAGAGGAGGAGGGGGAGGAGAGGAGGAGGGGGAGGAGAGGA GGAGGGGGAGGAGAGGAGGAGGGGCAGGAGAGGAGGAGGGGCAGGAGAGG AAGAGGAGAGGAGGAGGAGAGGAGGACGAGAGGAGCAGGATGAGGGGAGG AGAAGGAGAGGAAGAGGAGAGGAGGAGAGGAGGAAAAGAGGAGGAGGAGA GGAGGAGGAGGAGAGGAGGAGGAGGAGAGGAGGAGGAGGGGGAGGAGGAG AGGGGGAGGAGGGGAGGGGGAGGAGGAGAGGGGGAGGAGGATGGGGGAGG AGGAGAGGGGAAGGAGGAGAGGGGGAGGAGGAGAGGGGGAGGAGGAGGGG GGAGGAGGAGAGGGGAAGGAGGAGAGGGGGAGGAGGAGAGGGGGAGGAGG AGGGGGAGGAGGAGAAGGGGAGGAGGAGGAGAGGAGGAGGGGCAGGAGAG GAAGAGGAGAGGAGGAGGAGAGGAGGACGAGAGGAGCAGGAAGAGGAGAG GAGGAGGAGAGGAGGACGAGAGGAGCAGGAAGAGGAGAGGAGAAGGAGAG GAAGAGGAGAGGAGGAGAGAAGGAAGAGAGGAGGAGGAGAGGAAAAGAAG AGGAGGAGGAGAGGAGGAAGAGAGGAGGAGGAGAGGAAGAGGAGAGGAGG AGGAGAAGAGGAGGAGGAAGGGGAGGAGAGGAGGAGGGGGAGGAGAGGAG GAGGAGGAGGGGGAGGAGAGGAGGAGGAGGAGGAGGAGAGGAGGAGGAGG GGCAGGAGAGGAAGAGGAGAGGAGGAGGAGAGGAGGACGAGAGGAGGACG AGAGGAGCAGGAAGAGGAGAGAAGGAGGAGGAGAGGAGGACAAGAGGAGC AGGATGAGGAGAGGAGAAGGAGAGGAAGAGGAGAGGAGGAGAGGAGGAAG AGAGGAGGAGAGGAGGAAGAGAGGAGGAGAGGAGGAGGAGGGGAGGGGGA GGAGGGGAGGGGGAGGAGGAGAGGGGGAGGAGGAGAGGGGGAGGAGGAGA GGGGGAGGAGGAGAGGGGGAGGAGGAGGGGAGGAGGACGAGAGGAGCAGG AAGAGGAGAGGAGAAGGAGAGGAAGAGGAGAGGAGGAGAGAAGGAAGAGA GGAGGAGGAGAGGAAAAGAAGAGGAGGAGGAGGAGAGGAGGAAGAGAGGA GGAGGAGAGGAGGAAGAGAGGAGGAGGAGAAGAGGAGAGGAGGAGGAGAA GAGGAGGAGGAAGGGGAGGAGAGGAGGAGGAAGGGGAGGAGAGGAGGAGG AGGAGAGGAGGAAGAGAGGAGGAGGAGAAGAGGAGAGGAGGAGGAGAAGA GGAGGAGGAAGGGGAGGAGAGGAGGAGGAAGGGAAGGAGAGGAGGAGGAG GAGAGGAGGAGGAGGAGAGGAGGAGGGGGAGGAGAGGAGGAGGAGGAGGA GAGGAGGAGGGGGAGGAGAGGAGGAAGGGGAGAGGAGGAGGAGAGGACGA GGAGAGGAAGAGGAGAGGAGGAGGAGAGGACGAGGAGAGGAAGAGAGGAG GAGACAAGGAGGAGAGGAGGAGGTGGAGAGGAGGAGGAGAGGAGGAAGAG GAGCAGAAGAGGAGGAGGAGAGGAGGAGGTGGTGGACAAGAGGAGGAGGA GGAGAG	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	11/20			chr19	TogoVar
B4GALT1_chr9_33105642_33172336	33130550	T T	TTCAATAT others(2027): Show TTCAATATCCTTTTTTTTTTTTTTTTTTTTTTTTTTAAATTTATTTTTTT ATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATG GGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTC TGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCC TGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCC TTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTT AACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACTGGGTTGGGGGTA AGGTCACAGATCAACAGGATCCCAAGACAGAAGACTTTTTCTTAGTGCAG AACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACACGGCA ACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCGCCTTTCTATTCCA CAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACA CCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC GGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGTGGGGTGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCA GGCGGGGGGCCGACCCCCCCACCTCCCTCCGGGACGGGGCGGCTGGCCGG GCAGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGA CCCCCCCATCTCCCTCCCGGATGGCATGGCTGGCCGGGCGGGGGGGCTGA CCCCCCACCTCCCTCCCGGATGGGGTGGCTGCCGGGCGGAGACGCTCCTC ACTTCCCAGATGGGGTGGCTGCCGGGCGGAGAGGCTCCTCACTTCTCAGA CGGGGCGGTTGCCAGGCAGAGGGTCTCCTCACTTCTCAGATGGGGCGGCC GGGCAGAGACGCTCCTCACCTCCCAGACGGGGTCTCGGCCGGGCAGAGGC GCTCCTCACGTCCCAGAGGGGGCGGCGGGGCAGAGGCGCTCCCCACATCT CAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGGGATG GCGGCCGGGAAGAGGCGCTCCTCACTTCCTAGATGGGATGGCGGCCGGGC GGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTC ACATCCCAGACGATGGGCGGCCAGGCAGAGACACTCCTCACTTCCCAGAT GGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCCAAG GCAGGCGGCTGGGAGGTGTAGGTTGTAGCGAGCCGAGATCACGCCACTGC ACTCCAGCCTGGGCACCATTGAGCACTGAGTGAACGAGACTCCGTCTGCA ATCCCGGCACCTCGGGAGGCCAAGGCTGGCGGATCACTCGCGGTTAGGGG CTGGAGACCGCCCGGCCAACACAGCGAAACCCCGTCTCCACCAAAACCAG TCAGGCGTGGCGGCGCGTGCCTGCAATCGCAGGCACTCGGCAGGCTTCCC TGAACCCGCGAGCTGGAAGCCGAGACCAGCTGGTCGCTGCCGGGCCCGCT AGTAGCCCACGGAGAAGCCGCCCACAGCCGGACACCAGAGCCTTGAGGGC CGCCATCTTCAAAAACCTACCCTCGTAATTTTTTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0031 a0001c0001t0013g0031	1	366	0.0027	2034	c.648 others(2051): Show c.648+4638_648+4639insGAAAAAATTACGAGGGTAGGTTTTTGAA GATGGCGGCCCTCAAGGCTCTGGTGTCCGGCTGTGGGCGGCTTCTCCGTG GGCTACTAGCGGGCCCGGCAGCGACCAGCTGGTCTCGGCTTCCAGCTCGC GGGTTCAGGGAAGCCTGCCGAGTGCCTGCGATTGCAGGCACGCGCCGCCA CGCCTGACTGGTTTTGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCGG TCTCCAGCCCCTAACCGCGAGTGATCCGCCAGCCTTGGCCTCCCGAGGTG CCGGGATTGCAGACGGAGTCTCGTTCACTCAGTGCTCAATGGTGCCCAGG CTGGAGTGCAGTGGCGTGATCTCGGCTCGCTACAACCTACACCTCCCAGC CGCCTGCCTTGGCCTCCCAAAGTGCCGAGATTGCAGCCTCTGCCCGGCCG CCACCCCATCTGGGAAGTGAGGAGTGTCTCTGCCTGGCCGCCCATCGTCT GGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGAG CGTCTCCGCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCGCCTCTTCC CGGCCGCCATCCCATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCA TCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCCCTCTGGGACGT GAGGAGCGCCTCTGCCCGGCCGAGACCCCGTCTGGGAGGTGAGGAGCGTC TCTGCCCGGCCGCCCCATCTGAGAAGTGAGGAGACCCTCTGCCTGGCAAC CGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCT GGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCATCCGGGAGGGAGG TGGGGGGTCAGCCCCCCCGCCCGGCCAGCCATGCCATCCGGGAGGGAGAT GGGGGGGTCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCGGC CCCCTGCCCGGCCAGCCGCCCCGTCCCGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCAC CCCACCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCC CCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCACCCCGTC TGGGAGGTGTGCCCAACAGCTCATTGAGAACGGGCCAGGATGACAATGGC GGCTTTGTGGAATAGAAAGGCGGGAAAGGTGGGGAAAAGATTGAGAAATC GGATGGTTGCCGTGTCTGTGTAGAAAGAAGTAGACATGGGAGACTTTTCA TTTTGTTCTGCACTAAGAAAAAGTCTTCTGTCTTGGGATCCTGTTGATCT GTGACCTTACCCCCAACCCAGTGCTCTCTGAAACATGTGCTGTGTCCACT CAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGAT GCTTGAAGGCAGCATGCTCCTTAAGAGTCATCACCACTCCCTAATCTCAA GTACCCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCCTAGG AAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACT ATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAAT TATCAATAAAAAAATAAATTTAAAAAAAAAAAAAAAAAAAAAAAAAAGGA TATTGA	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	2/5			chr9	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(2027): Show GGCCCACCTTCCTGCCCCCTCACCTGCCACAGCTCACCTTCCCATCCTCA CCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCA TCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACC TTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAG CTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACGTG CCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCT CACCCGCCACAGCTCACTTTCCCATCCTCACGTGCCACAGCTCACCTTCC CATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAGCTCA CCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCAC AGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACC CGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATC CTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTT CCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACGTGCCACAGCT CACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCC ACAGCTCACTTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCA CCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAGCTCACCTTCCCA TCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACC TTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAG CTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACGTG CCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCT CACCCGCCACAGCTCACCTTCCCATCCTCACGTGCCACAGCTCACCTTCC CATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCA CTTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCAC AGCTCACCTTCCCATCCTCACCCGCCAGAGCTCACCTTCCCATCCTCACG TGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATC CTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTT CCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCT CACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCC ACAGCCCACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTTCCTGCCCC CTCACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTT CCCATCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCTGCCACGGCT CACCTTCCCATCCTCACCTGCCACAGCCCACCTTCCTGTCCCCTCACCTG CCACGGCCCACCTTCCTGCCCCCTCACCTGCCACAGCTCACCTTCCCATC CTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCTCACCTT CCCATCCTCACCTGCCACGGCTCACCTTCCCATCCTCACCTGCCACAGCC CACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCC TGCCACAGCTCACCTTCCCATCCTCACCTGCCACGGCTCACCTTCCCATC CTCACCTGCCACAGCCCACCTTCCTGTCCCCTCACCTGCCACGGCCCACC TTCCTGCCCCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCTGCCAC AGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACC TGCCACAGCTCACCTTCCCATCCTCACCTGCCACA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0144 a0002c0005t0001g0144	1	284	0.0035	2034	c.411 others(2051): Show c.4112+605_4112+606insTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAG GTGAGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGGG GCAGGAAGGTGGGCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCTGTGGC AGGTGAGGATGGGAAGGTGAGCCGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAG GAAGGTGGGCTGTGGCAGGTGAGGATGGGAAGGTGAGCCGTGGCAGGTGA GGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGC GGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGGGGCAGGAAGGTGG GCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCTGTGGCAGGTGAGGATGG GAAGGTGAGCCGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGA GGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGC AGGTGAGGGGGCAGGAAGGTGGGCCGTGGCAGGTGAGGGGACAGGAAGGT GGGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGG GAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGA GGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGC GGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGC TGTGGCACGTGAGGATGGGAAGGTGAGCTCTGGCGGGTGAGGATGGGAAG GTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGAT GGGAAAGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGT GAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTGTG GCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGA GCTGTGGCACGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGA AGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGG ATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAC GTGAGGATGGGAAGGTGAGCTCTGGCGGGTGAGGATGGGAAGGTGAGCTG TGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAAGT GAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGG GAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGA GGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGC ACGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGC TGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAG GTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGAT GGGAAGGTGAGCTCTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGT GAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAAGTGAGCTGTG GCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGA GCTGTGGCACGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGA AGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGG ATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGG GTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTG TGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGGGGCAGGAAG GTGGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2027): Show CGGCCTCCCAAAGTGCTGGGATGACGGGCTTGAGCTACTTTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCT CTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTG CAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAG TCACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTT TTAGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCT GACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAG GCGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGC GATCTTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGAT TCTCCTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCA CACGCAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGT CTCGTTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAACCTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAG TAGCTGAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTT TCAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCT GGCCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAG GCATGAGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAG ACATCAATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCC TAAGTGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATA CACAGTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTT TTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGAT CTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCG CAGCCTCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTA ATTTTTTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTG CTGGGATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTT ACATGAACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAAT TCCAGCTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTT CGAGACCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTAC AAAAATTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTAC TCAGGAGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGC AGTGAGTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAA CTCTTATATAAGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACA ATCAGACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGG CCAGATTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTT TGAGATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATC TCAGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTC AGCCTCCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAA TTTTTGTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGT GTCAAACTCCTGGCCTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	159	0.0063	2034	c.-90 others(2049): Show c.-90-158_-90-157insGACGGGCTTGAGCTACTTTGCCCGGCCTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCT GTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGCA ACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTC ACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTTT AGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGA CCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGC GTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGA TCTTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTC TCCTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACA CGCAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCT CGTTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA ACCTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTA GCTGAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTC AGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGG CCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGC ATGAGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGAC ATCAATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTA AGTGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACA CAGTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTT GAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCT TGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCA GCCTCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAAT TTTTTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCT GGGATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTAC ATGAACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTC CAGCTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCG AGACCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAA AAATTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTC AGGAGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAG TGAGTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACT CTTATATAAGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAAT CAGACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCC AGATTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTG AGATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTC AGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAG CCTCCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATT TTTGTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGT CAAACTCCTGGCCTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTG GGAT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2027): Show CGGCCTCCCAAAGTGCTGGGATGACGGGCTTGAGCTACTTTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGC TCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACT GCAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGA GTCACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATT TTTAGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTC TGACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACA GGCGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCG ATCTTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATT CTCCTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCAC ACGCAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCT CGTTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA ACCTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTA GCTGAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTC AGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGG CCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGC ATGAGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGAC ATCAATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTA AGTGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACA CAGTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTT TTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGAT CTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCG CAGCCTCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTA ATTTTTTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTG CTGGGATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTT ACATGAACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAAT TCCAGCTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTT CGAGACCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTAC AAAAATTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTAC TCAGGAGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGC AGTGAGTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAA CTCTTATATAAGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACA ATCAGACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGG CCAGATTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTT TGAGATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATC TCAGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTC AGCCTCCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAA TTTTTGTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGT GTCAAACTCCTGGCCTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0082 a0001c0002t0008g0082	1	159	0.0063	2034	c.-90 others(2049): Show c.-90-158_-90-157insGACGGGCTTGAGCTACTTTGCCCGGCCTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTC TGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGC AACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGT CACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTT TAGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTG ACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGG CGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGAT CTTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCT CCTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACAC GCAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCG TTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAC CTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGC TGAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAG TAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCC TCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCAT GAGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACAT CAATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAG TGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACA GTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTTT GAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCT TGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCA GCCTCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAAT TTTTTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCT GGGATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTAC ATGAACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTC CAGCTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCG AGACCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAA AAATTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTC AGGAGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAG TGAGTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACT CTTATATAAGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAAT CAGACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCC AGATTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTG AGATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTC AGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAG CCTCCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATT TTTGTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGT CAAACTCCTGGCCTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTG GGAT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2027): Show CGGCCTCCCAAAGTGCTGGGATGACGGGCTTGAGCTACTTTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGC TCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACT GCAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGA GTCACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATT TTTAGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTC TGACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACA GGCGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCG ATCTTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATT CTCCTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCAC ACGCAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTC TCGTTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AACCTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGT AGCTGAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTT CAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTG GCCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGG CATGAGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGA CATCAATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCT AAGTGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATAC ACAGTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTT TTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGAT CTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCG CAGCCTCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTA ATTTTTTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTG CTGGGATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTT ACATGAACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAAT TCCAGCTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTT CGAGACCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTAC AAAAATTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTAC TCAGGAGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGC AGTGAGTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAA CTCTTATATAAGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACA ATCAGACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGG CCAGATTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTT TGAGATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATC TCAGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTC AGCCTCCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAA TTTTTGTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGT GTCAAACTCCTGGCCTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	159	0.0063	2034	c.-90 others(2049): Show c.-90-158_-90-157insGACGGGCTTGAGCTACTTTGCCCGGCCTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTC TGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGC AACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGT CACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTT TAGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTG ACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGG CGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGAT CTTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCT CCTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACAC GCAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTC GTTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA CCTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAG CTGAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCA GTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGC CTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCA TGAGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACA TCAATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAA GTGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACAC AGTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTT GAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCT TGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCA GCCTCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAAT TTTTTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCT GGGATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTAC ATGAACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTC CAGCTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCG AGACCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAA AAATTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTC AGGAGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAG TGAGTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACT CTTATATAAGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAAT CAGACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCC AGATTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTG AGATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTC AGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAG CCTCCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATT TTTGTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGT CAAACTCCTGGCCTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTG GGAT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2027): Show CGGCCTCCCAAAGTGCTGGGATGACGGGCTTGAGCTACTTTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTG CTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCAC TGCAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCG AGTCACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTAT TTTTAGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTT CTGACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGAC AGGCGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGC GATCTTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGAT TCTCCTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCA CACGCAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGT CTCGTTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAACCTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAG TAGCTGAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTT TCAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCT GGCCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAG GCATGAGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAG ACATCAATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCC TAAGTGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATA CACAGTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTT TTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGAT CTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCG CAGCCTCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTA ATTTTTTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTG CTGGGATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTT ACATGAACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAAT TCCAGCTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTT CGAGACCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTAC AAAAATTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTAC TCAGGAGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGC AGTGAGTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAA CTCTTATATAAGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACA ATCAGACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGG CCAGATTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTT TGAGATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATC TCAGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTC AGCCTCCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAA TTTTTGTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGT GTCAAACTCCTGGCCTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0004 a0010c0012t0004	a0010c0012t0004g0089 a0010c0012t0004g0089	1	159	0.0063	2034	c.-90 others(2049): Show c.-90-158_-90-157insGACGGGCTTGAGCTACTTTGCCCGGCCTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCT CTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTG CAACCTCTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAG TCACTGGGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTT TTAGTAGAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCT GACCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAG GCGTGAGCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGA TCTTCGGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTC TCCTGCCTCAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACA CGCAGCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCT CGTTCTGTAGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA ACCTCCGTCACCCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTA GCTGAGATTACAGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTC AGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGG CCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGC ATGAGCCACTGCACCCGGCCGCTTTTATACATTTTAGGGATATATGAGAC ATCAATCAATACGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTA AGTGACAAAAGGTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACA CAGTTTAGCCTGGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTT GAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCT TGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCA GCCTCCTGAGTAGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAAT TTTTTTGTATTTTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCT GGGATGACAGGCATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTAC ATGAACAATAGGGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTC CAGCTCTTCAGGAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCG AGACCAGCCTGGCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAA AAATTAGCCAGGTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTC AGGAGGCTGAGGCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAG TGAGTGGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACT CTTATATAAGAAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAAT CAGACTTTGAAATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCC AGATTGTGAGGGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTG AGATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTC AGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAG CCTCCAGAGTAGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATT TTTGTATTTTTAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGT CAAACTCCTGGCCTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTG GGAT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
DLEC1_chr3_38034208_38129025	38084579	G G	GGGGGGTG others(2027): Show GGGGGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTAGTAGTG GTGGTGGTAGTAGTGGTGGTAGTAGTGGTAGTAGTAGTAGTGGTGGTAGT AGTGGTGGTAGTAGTGGTAATAGTAGTAGTGGTGGTGGTAGTAGTAGTAG TGGTTGTGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTAGTA GTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGTAGTGGTGGTGGT GGTAGTAGTAGTGGTGGTTGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGG TAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTAGTA GTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGT AGTGGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGG TGGTAGTAGTGGTAATAGTGGTGGTGGTAGTAGTAGTAGTGGTTGTGGTG GTAGTAGTGGTAGTAGTAGTGGTGGTGGTGGTGGTGGTGGTAGTAGTAGT GGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGTAGTAGTGGTGGTGG TGGTAGTAGTAGTGGTGGTTGTGGTAGTAGTAGTGGTAGTAGTAGTAGTG GTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTAGT GGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAG TAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTGGTGGTGGTAGTAGTGGTA ATAGTGGTGGTGGTAGTAGTAGTAGTGGTTGTGGTGGTAGTAGTGGTAGT AGTAGTGGTGGTGGTGGTGGTGGTGGTAGTAGTAGTGGTGGTGGTAGTAG TAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGTA GTAGTGGTGGTGGTGGTAGTAGTAGTGGTGGTTGTGGTAGTAGTAGTGGT AGTAGTAGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGG TAGTAGTGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTA GTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAAT AGTAGTGGTGGTGGTAGTAGTAGTAGTGGTTGTGGTGGTAGTAGTGGTAG TAGTAGTGGTAGTAGTAGTGGTGGTAGTGGTGGTGGTGGTAGTAGTAGTG GTGGTGGTAGTAGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGT AGTGGTAATAGTAGTAGTGGTGGTGGTGGTAGTAGTAGTGGTGGTTGTGG TAGTAGTAGTGGTAGTAGTAGTAGTAGTAGTAGTGGTGGTGGTAGTAGTG GTGGTGGTAGTAGTGGTGGTAGTAGTAGTGGTAGTAGTAGTGGTGGTGGT AGTAGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAA TAGTAGTAGTGGTGGTGGTGGTAGTAGTAGTGGTGGTTGTGGTAGTAGTA GTGGTAGTAGTAGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGT AGTAGTGGTGGTGGTAGTAGTGGTAGTAGTGGTGGTGGTGGTAGTAGTAG TGGTGGTTGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTAGTA GTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGTAGTGGTGGTGGT AGTAGTAGTAGTGGTTGTGGTGGTAGTAGTGGTAGTAGTAGTGGTGGTGG TGGTGGTGGTAGTGGTGGTGGTGGTAGTAGTAGTGGTGGTGGTAGTAGTG GTGGTAGTAGTGGTAATAGTAGTGGTGGTGGTAGTAGTAGTAGTGGTTGT GGTGGTAGTAGTGGTAGTAGTAGTGGTGGTGGTGGTGGTGGTAGTGGTGG TGGTGGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGCAGTGATA GTAATAGTAGTGGTGGTGGTAGTAGTAGTAGTGGT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA20300.hp1 NA19030.hp2 NA20300.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0008 a0002c0001t0001 a0002c0001t0008	a0002c0001t0001g0005 a0002c0001t0008g0005 a0002c0001t0001g0005 a0002c0001t0008g0005	2	298	0.0067	2034	c.126 others(2051): Show c.1261+352_1261+353insGGTAGTAGTAGTAGTGGTAGTAGTAGTA GTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAGTAGTAGTAGTGGTGGT AGTAGTGGTGGTAGTAGTGGTAATAGTAGTAGTGGTGGTGGTAGTAGTAG TAGTGGTTGTGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTA GTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGTAGTGGTGGT GGTGGTAGTAGTAGTGGTGGTTGTGGTAGTAGTAGTGGTAGTAGTAGTAG TGGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTA GTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGT AGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAG TGGTGGTAGTAGTGGTAATAGTGGTGGTGGTAGTAGTAGTAGTGGTTGTG GTGGTAGTAGTGGTAGTAGTAGTGGTGGTGGTGGTGGTGGTGGTAGTAGT AGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGTAGTAGTGGTGG TGGTGGTAGTAGTAGTGGTGGTTGTGGTAGTAGTAGTGGTAGTAGTAGTA GTGGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGT AGTGGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGG TAGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTGGTGGTGGTAGTAGTG GTAATAGTGGTGGTGGTAGTAGTAGTAGTGGTTGTGGTGGTAGTAGTGGT AGTAGTAGTGGTGGTGGTGGTGGTGGTGGTAGTAGTAGTGGTGGTGGTAG TAGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATA GTAGTAGTGGTGGTGGTGGTAGTAGTAGTGGTGGTTGTGGTAGTAGTAGT GGTAGTAGTAGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGG TGGTAGTAGTGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTGGTGGTA GTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGT AATAGTAGTGGTGGTGGTAGTAGTAGTAGTGGTTGTGGTGGTAGTAGTGG TAGTAGTAGTGGTAGTAGTAGTGGTGGTAGTGGTGGTGGTGGTAGTAGTA GTGGTGGTGGTAGTAGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGT AGTAGTGGTAATAGTAGTAGTGGTGGTGGTGGTAGTAGTAGTGGTGGTTG TGGTAGTAGTAGTGGTAGTAGTAGTAGTAGTAGTAGTGGTGGTGGTAGTA GTGGTGGTGGTAGTAGTGGTGGTAGTAGTAGTGGTAGTAGTAGTGGTGGT GGTAGTAGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGG TAATAGTAGTAGTGGTGGTGGTGGTAGTAGTAGTGGTGGTTGTGGTAGTA GTAGTGGTAGTAGTAGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGT GGTAGTAGTGGTGGTGGTAGTAGTGGTAGTAGTGGTGGTGGTGGTAGTAG TAGTGGTGGTTGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTA GTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGTAGTGGTGGT GGTAGTAGTAGTAGTGGTTGTGGTGGTAGTAGTGGTAGTAGTAGTGGTGG TGGTGGTGGTGGTAGTGGTGGTGGTGGTAGTAGTAGTGGTGGTGGTAGTA GTGGTGGTAGTAGTGGTAATAGTAGTGGTGGTGGTAGTAGTAGTAGTGGT TGTGGTGGTAGTAGTGGTAGTAGTAGTGGTGGTGGTGGTGGTGGTAGTGG TGGTGGTGGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGCAGTG ATAGTAATAGTAGTGGTGGTGGTAGTAGTAGTAGTGGTGGGGGTGGTAGT AGTAGT	DLEC1	ENSG00000008226.20	transcript	ENST00000308059.11	protein_coding	7/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
GRID2_chr4_92298966_93779566	92649026	T T	TCAATTTA others(2027): Show TCAATTTAAAATATTTCATAAGCTTGTATGATATCATTGGGGCTAGAGTA GACGTGATACTAAATGTAGGAAATAAATGGAATAAACACTCAGAGAGGAA CTATATGTTTTGTCTTAAAACTTCATTAAGTCTAAGAATTGATATTTTGT TGCTGGATGAATTGGTGGTTTGTGAGTTATAGTGAATATATCTCCCTGTT ACATTCCTGTCGTTGTCCTATCCATTGTCCTATTGTTGGATGTTTCACTT GTATATCCCATGTTACATAATTTTATCATAGAGAGCAAAAGAATTTGACT ACAGTAAACTTAATGCTTTGCCATGTACAGATGTATGACAAAGAACATGT TATTTTGAAAGTTTTTGCTCTTATATTTTCTTTGCAGTCTGACTTCTTAA TATTTGCTTCATTTTCATGTATGTGTTTTTACAAAGCATTCTCTTGGTAT CACTAACCAAATACCTGTTTAGAGAAACAAAAGGCCAACTGGGGATGAAA ACAGTTTATTTACTTACTGCACAGTATGTTTCTTATTATGTGCCACTCAG CTATCTTCTTTTATAAAGTGCCTGTTAAAGTCTTTAGCCCAATTTTTAAA AATTGAGTTATTTTCTCTCGCTTGTAATAATTTGTGGGTATTTTCAAAAC TATTTTCTAGATACAATTTCTTGTTCAGTTTGTGTATTGTCAAATATATT ACATTATTAACCTGCCTGTACAGAGCAGTAGTTTCTAATACTGATAAACT TTTACCTATTAATATTTTTTCTTGTTCTTAACACTTAAATCTTGACTAAA AAAAAAACTTGTTCACTCTGAAATCATGAATATTTATGTTTTCATCTAGA AATGCTATAGTTTTAGCTTTTATAGCCTTAGCTTTTAAATTTAGATTTAT AACCCATCCGGAATTATTTTTTGTCTATGATGACTGCTGGGGCTAACAGT TTAATCCTTTTGATTTGTTATTATGACTATTAAAATGTAAACAAATGTAA AACAGGTTATTGAGGCAAAAACTATTTTCATGGTGTCTATTCAATATCTT CATGAACATAAGTATCCTTGAGGGAATTTTAAAATTGCACCCATTTTGTG AAATTATTTCGTATTCTATTTATGTTTTCATTTATCATTATTATCACTCC TGAATTAGTAAATGCTGTTAATAATCAACAAACTTATACAATCACAGTCT TTGAATTTTTTTTTTTTACTTTTTCCTCAAGCCTTTATCCTATATCAGGT GTTGTACTTGGATTTAGACATTTTGGAAAGTATCCAACTTTTTTTGTAAT TTCGGTAGTAGCAGTACAACTTGTTCCCTAAAAAGCTAAATAGCCACAAC AAATGTACAATGATCGGTTAGAGTGGGACTGAGAGGCAATGTTTCCCAAT ATGTAGAGGAGGGATTCAGAAACATTTAATAATGGTGTGATCCTGTATAA CTTACTTTATCTCCTTGTGTATCTCCTTGTTTATAAGATAAAATCATGAT AGTGTCTGCTGATAGGGTTATGGGGATTAAATTAATGTTAACATTTGTAA AGTGTTTGGAATGGTGTCAACCACACAGTAAAATTATATAATTGCTTTAC TATTACTATTGTAAGTAATTATTGTAGCGATTCAATAAATGAAATGTTTG GTATAACTTCTGGTTTTAATGGAACAGAGTTTTCAGGAGACCCATGAACA ACAATGGGGGGAAAAGCATAAGTGGGTATGGAAACGTTGGAAGAAGGAAA CACTAAGATATAAATATAAAGAACATATTATGAAGGTAAGAGAAGACTCA CCACAGGAGGTGGTCAGAAACCTGGAGATCTAACCTCAGAGTTGTGAAAT ACCCATCTATTTCTAGATTAAAGTCTGTAAGGTACACCTTGTAGTTAAGT AGTTAAGTAGTAAGTAGTAGCTACACCTTGTAGTTAAGTAGTTACTATAG TTAACTTTTAGTAAAGTGGTTAGTTATATATATATTATATATATATATTA TATATATATATTATATATATTATATATATATATTA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	34	0.0294	2034	c.244 others(2053): Show c.244+58740_244+58741insCAATTTAAAATATTTCATAAGCTTGT ATGATATCATTGGGGCTAGAGTAGACGTGATACTAAATGTAGGAAATAAA TGGAATAAACACTCAGAGAGGAACTATATGTTTTGTCTTAAAACTTCATT AAGTCTAAGAATTGATATTTTGTTGCTGGATGAATTGGTGGTTTGTGAGT TATAGTGAATATATCTCCCTGTTACATTCCTGTCGTTGTCCTATCCATTG TCCTATTGTTGGATGTTTCACTTGTATATCCCATGTTACATAATTTTATC ATAGAGAGCAAAAGAATTTGACTACAGTAAACTTAATGCTTTGCCATGTA CAGATGTATGACAAAGAACATGTTATTTTGAAAGTTTTTGCTCTTATATT TTCTTTGCAGTCTGACTTCTTAATATTTGCTTCATTTTCATGTATGTGTT TTTACAAAGCATTCTCTTGGTATCACTAACCAAATACCTGTTTAGAGAAA CAAAAGGCCAACTGGGGATGAAAACAGTTTATTTACTTACTGCACAGTAT GTTTCTTATTATGTGCCACTCAGCTATCTTCTTTTATAAAGTGCCTGTTA AAGTCTTTAGCCCAATTTTTAAAAATTGAGTTATTTTCTCTCGCTTGTAA TAATTTGTGGGTATTTTCAAAACTATTTTCTAGATACAATTTCTTGTTCA GTTTGTGTATTGTCAAATATATTACATTATTAACCTGCCTGTACAGAGCA GTAGTTTCTAATACTGATAAACTTTTACCTATTAATATTTTTTCTTGTTC TTAACACTTAAATCTTGACTAAAAAAAAAACTTGTTCACTCTGAAATCAT GAATATTTATGTTTTCATCTAGAAATGCTATAGTTTTAGCTTTTATAGCC TTAGCTTTTAAATTTAGATTTATAACCCATCCGGAATTATTTTTTGTCTA TGATGACTGCTGGGGCTAACAGTTTAATCCTTTTGATTTGTTATTATGAC TATTAAAATGTAAACAAATGTAAAACAGGTTATTGAGGCAAAAACTATTT TCATGGTGTCTATTCAATATCTTCATGAACATAAGTATCCTTGAGGGAAT TTTAAAATTGCACCCATTTTGTGAAATTATTTCGTATTCTATTTATGTTT TCATTTATCATTATTATCACTCCTGAATTAGTAAATGCTGTTAATAATCA ACAAACTTATACAATCACAGTCTTTGAATTTTTTTTTTTTACTTTTTCCT CAAGCCTTTATCCTATATCAGGTGTTGTACTTGGATTTAGACATTTTGGA AAGTATCCAACTTTTTTTGTAATTTCGGTAGTAGCAGTACAACTTGTTCC CTAAAAAGCTAAATAGCCACAACAAATGTACAATGATCGGTTAGAGTGGG ACTGAGAGGCAATGTTTCCCAATATGTAGAGGAGGGATTCAGAAACATTT AATAATGGTGTGATCCTGTATAACTTACTTTATCTCCTTGTGTATCTCCT TGTTTATAAGATAAAATCATGATAGTGTCTGCTGATAGGGTTATGGGGAT TAAATTAATGTTAACATTTGTAAAGTGTTTGGAATGGTGTCAACCACACA GTAAAATTATATAATTGCTTTACTATTACTATTGTAAGTAATTATTGTAG CGATTCAATAAATGAAATGTTTGGTATAACTTCTGGTTTTAATGGAACAG AGTTTTCAGGAGACCCATGAACAACAATGGGGGGAAAAGCATAAGTGGGT ATGGAAACGTTGGAAGAAGGAAACACTAAGATATAAATATAAAGAACATA TTATGAAGGTAAGAGAAGACTCACCACAGGAGGTGGTCAGAAACCTGGAG ATCTAACCTCAGAGTTGTGAAATACCCATCTATTTCTAGATTAAAGTCTG TAAGGTACACCTTGTAGTTAAGTAGTTAAGTAGTAAGTAGTAGCTACACC TTGTAGTTAAGTAGTTACTATAGTTAACTTTTAGTAAAGTGGTTAGTTAT ATATATATTATATATATATATTATATATATATATTATATATATTATATAT ATATATTA	GRID2	ENSG00000152208.13	transcript	ENST00000282020.9	protein_coding	2/15			chr4	TogoVar
OPCML_chr11_132409981_133537501	133354202	A A	ATGGTGGT others(2027): Show ATGGTGGTGGTGGTGATGACGTAATGATGCTGGTGGTGATGGTGATGGCC GGGGTGACGATGATGCTGGTGGTTGTGGTGACTGGGTGGTGATAATTGTG ATGGTGATGCCGATGCCGGTGGTGATGGCAGTGGGAGTGGTGATGGTGAT GGTAGTGTGGTGGTGGTGATGTTGATAGTGCTAGTGGTGATGATGGTGGT GATGGTGATGGTAGTGATGATAGTGATGATGCTGGTGGTGGTGATGATGG TGATGGTGATGATGCTGTTGGTGGTGGTGATGGTGGTAGTGCTAGTGATG GTGGTGACAGTGATGGTCACGGTGATGGTAGTGGGGCTAGTGGTGGTGGT AGTGATGATGGTGGTGGTGATGATGCTGGTGGTGATGGTGGTGATAATGT TGATAGTGGTGGTGGTGGTGGTGGTGATAGTGATGATGGTGCTGGTGGTG GTGACATGTTGGTGGTGGTAGTGATGATGGCAGTGGTGACGGTGATGCTG GTGGTGATGGTGGTGATAATGTTGATGGTGGTGGTGATGATGCTGGTGCT GGTGGTGATGGTGGTAATAATGGTGATAGTGGTGGTGGTAGTAGTGGTGA TAGTGATGATGATGCTGGTGGTGGTGACATGTTGGTGGTGGTAGTGATGA TGGCGGTGGTGATGGTGATGCTGGTGGTGATGGTGGTGATGATGCTGGTG CTGGTGGTGATGGTGGTGATAATGGTGATAGTGGTGGTGGTAGTGGTGGT GATAGTGATGATGGTGCTGGTGATGGTGGTGGTGGTAGTGGTAGTGATGA TGGCGGTGGTGATGGTGATGCTGGTGGTGATGGTGATAATGTTGATAGTG GTGGTGGTGGTGGTGATGATGCTGGTGCTGGTGGTGATGGTGGTGATAAT GGTGATAGTGGTGGTGGTAGTGGTGGTGATGATGCTGGGGGTGATGGTGG TGATCATGGTGATAGTGGTGGTGGTAGTGGTGGTGATAGTGATGATGGTG GTGGTGATGGTGGTGGTGGTAGTGGTGATGATGGTGGTGGTGATGGTGAT GCTGGTGGTGATGGTGGTGGTAATGTTGATAGTGGTGGTGATGATGGTGA TGATGCTGGTGCTGGTGGTGATGGTGGTGATGATGGTGATAGTGGGGGTG GTAGTGGTGGTGATAGTGATGATGGTGGTGGTGGTGGTGGTGGTGGTAGT GGTGGTGATGATGGTGGTGGTGATGGTGATGCTGGTGGTGATGGTGGTGA TGATGGTGATAGTGGGGGTGGTAGTGGTGGTGATAGTGATGATGGTGGTG GTGGTGGTGGTGGTGGTAGTGGTGGTGATGATGGTGGTGGTGATGGTGAT GCTGGTGGTGATGGTGGTGATGATGGTGATAGTGGGGGTGGTAGTGGTGG TGATAGTGATGATGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGATG ATGGTGGTGGTGATGGTGATGCTGGTGGTGATGGTGATAATGTTGATAGT GGTGGTGGTGGTGGTGATGATGCTGGTGCTGGTGGTGATGGTGGTGATAA TGGTGATAGTGGTGGTGGTAGTGGTGGTGATGATGGTGGTGATGGTGATG CTGGGGGTGATGGTGGTGATAATGGTGATAGTGGTGGTGGTAGTGGTGGT GATAGTGATGATGGTGGTGGTGGTGGTGGTAGTGGTGGTGATGATGGTGG TGGTGATGGTGATGCTGGTGGTGATGGTGGTGGTAATGTTGATAGTGGTG GTGATGGTGATGATGCTGGTGCTGGTGGTGATGGTGGTGATGATGGTGAT AGTGGGGGTGGTAGTGGTGATAGTGATGATGGTGCTGGTGACATGTTGGT AGTGGTGGTGATGATGGTGGTGATGGTGATGCTGGGGGTGATGGTGGTGA TAATGGTGATAGTGGTGGTGGTAGTGGTGGTGATAGTGATGATGGTGGTG GTGGTGATGGTGGTGGTAGTGGTGATGATGGTGGTGGTGATGGTGATGCT GGTGGTGATGGTGGTGGTAATGTTGATAGTGGTGG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	68	0.0147	2034	c.61+ others(2053): Show c.61+178061_61+178062insCCACCACTATCAACATTACCACCACC ATCACCACCAGCATCACCATCACCACCACCATCATCACCACTACCACCAC CATCACCACCACCACCATCATCACTATCACCACCACTACCACCACCACTA TCACCATTATCACCACCATCACCCCCAGCATCACCATCACCACCATCATC ACCACCACTACCAACATGTCACCAGCACCATCATCACTATCACCACTACC ACCCCCACTATCACCATCATCACCACCATCACCACCAGCACCAGCATCAT CACCATCACCACCACTATCAACATTACCACCACCATCACCACCAGCATCA CCATCACCACCACCATCATCACCACCACTACCACCACCACCACCACCATC ATCACTATCACCACCACTACCACCACCACTATCACCATTATCACCACCAT CACCCCCAGCATCACCATCACCACCATCATCACCACCACTACCACCACCA CTATCACCATTATCACCACCATCACCACCAGCACCAGCATCATCACCACC ACCACCACCACTATCAACATTATCACCATCACCACCAGCATCACCATCAC CACCACCATCATCACCACCACTACCACCACCACCACCACCACCACCATCA TCACTATCACCACCACTACCACCCCCACTATCACCATCATCACCACCATC ACCACCAGCATCACCATCACCACCACCATCATCACCACCACTACCACCAC CACCACCACCACCACCATCATCACTATCACCACCACTACCACCCCCACTA TCACCATCATCACCACCATCACCACCAGCATCACCATCACCACCACCATC ATCACCACCACTACCACCACCACCACCACCACCACCATCATCACTATCAC CACCACTACCACCCCCACTATCACCATCATCACCACCATCACCACCAGCA CCAGCATCATCACCATCATCACCACCACTATCAACATTACCACCACCATC ACCACCAGCATCACCATCACCACCACCATCATCACCACTACCACCACCAC CATCACCACCACCATCATCACTATCACCACCACTACCACCACCACTATCA CCATGATCACCACCATCACCCCCAGCATCATCACCACCACTACCACCACC ACTATCACCATTATCACCACCATCACCACCAGCACCAGCATCATCACCAC CACCACCACCACTATCAACATTATCACCATCACCACCAGCATCACCATCA CCACCGCCATCATCACTACCACTACCACCACCACCATCACCAGCACCATC ATCACTATCACCACCACTACCACCACCACTATCACCATTATCACCACCAT CACCACCAGCACCAGCATCATCACCACCATCACCACCAGCATCACCATCA CCACCGCCATCATCACTACCACCACCAACATGTCACCACCACCAGCATCA TCATCACTATCACCACTACTACCACCACCACTATCACCATTATTACCACC ATCACCACCAGCACCAGCATCATCACCACCACCATCAACATTATCACCAC CATCACCACCAGCATCACCGTCACCACTGCCATCATCACTACCACCACCA ACATGTCACCACCACCAGCACCATCATCACTATCACCACCACCACCACCA CCACTATCAACATTATCACCACCATCACCACCAGCATCATCACCACCACC ATCATCACTACCACCACCACTAGCCCCACTACCATCACCGTGACCATCAC TGTCACCACCATCACTAGCACTACCACCATCACCACCACCAACAGCATCA TCACCATCACCATCATCACCACCACCAGCATCATCACTATCATCACTACC ATCACCATCACCACCATCATCACCACTAGCACTATCAACATCACCACCAC CACACTACCATCACCATCACCACTCCCACTGCCATCACCACCGGCATCGG CATCACCATCACAATTATCACCACCCAGTCACCACAACCACCAGCATCAT CGTCACCCCGGCCATCACCATCACCACCAGCATCATTACGTCATCACCAC CACCACCA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
RAD51B_chr14_67814779_68483093	67927791	T T	TATATATA others(2027): Show TATATATATTATATAATATACACATTATATATATGTGTGTATATATTATA TATATACACACATATATAATGTGTGTATATATAATATATATACACATTAT ATATAATGTGTATATATATATTATATATACACACATATATAATGTGTATA TATATTATATAATATATACACATTATATATAATGTGTATATATAATATAT ATATACACATATATAATGTGTATATATATATAATACACACACACACACAT ATATATACACATTGTATTTCATTATATATATATATCACATTTTCTTTATC CACTCATCCCTTTGTGAGAACTTAGGTTGATTCCATACCTTGGCTATTGT GAACAGTGTTGTGATAAACATGTGAATTCAGGAATCCCTTTGATATGCTG ATTTCTTTTCCTTTGGATAGATTCCCAGTACTGATATTGTTGGATTGTAT GGTAGTTTTAGTTTTAGTTTTCTGAGAAAACTTCATACTGTTTTTCCATA GCAGTTACTAATTTTCATTTCCACCAACAGTATATAAGAGTTCCCTTTTC TCTGAATCCTCATCAGCATCTGTTGCTTTTTATATTTTCAATAATACCCA GTCTAATTGGGGTGCTTTGATATCTCATTGTGGTTTAATTTGCATTTCCC TGATGGTTAGTGATGTTGAGCATTTTTATCCCTGTTGGCCATTTGTATGT ATTCATACATTTTTGAGAAGTGTCTATTCATATCCTTTGTCCCCCCACCC CCCCGGCTTTTTTTTGAGACAAGGTCCTGCTCTGTCAGCCAGGCTGGCTG GAGTGCTGTGGCATGTTCATAGCTCATTACAACCTCGAACTTCTGGATTT AAGTGATCCCCCCTGCTTAAGCCTCCTGAGTAGCTGGGACTACCTGTAGG TGCATGCCCCCATGCCCAGCTAATTTTTTTATTTTTCTTTTTGTACAGAT GAGTTCTTCCTGTGTTGCCTAGCTGGTCTCAAACTCCTGACCTCAAGTGA TACTCCTGCCTTGGCCTCCCAAAGCACTGGAATTATAGGCATAAGCCACT GAGCCCAGGCCCTTTGCTCATTTTTGAATGATATTATCATATTTTTACTG TTGAGTTGTTTGAGTTCCTTGTATATTCTGGATATTAGTCCTCTGTCAGA TGAGTAATTTGCAAATATACTCTCCCAGTCATGAGGTTGTCTCTTTACTC TATCTATTCTTTTGCTATGCAGAAGTTTCTTAGTTTAATATAGTCTCATT TGTCTATTTTTGTTTTTGTTGCCTGTGCTTTTGAGATCTTAGTTGTAAAA TCTTTGCCCAGACAAATGTCCTGAAAAGTTTTCTCTATGCTTTCTTCTAG TAGCTTTATATTTTTGGATCTTATGTTTTAAGTCCTTAATCCATCTTGAG TTAGCTTTTTTTTTTTTTTTTGGAGACGGAGTCTTGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCACGATCTCGGCTCACGGCAAGCTCCACCTCCTGGG TTCACATCATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGTG CCCGCCGCCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTTGTGATCCGCTG GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTG GCTTGAGTTAGCTTTTGTATGTGGTGAGAGATGGGGGTCTAGTTTCATTC TTCTGAATAAATATATATATAATATATTCAGTTTTCCCAGCATCATTTAT TGAAGAGAGTGTTCTTTCCCCAATGTATGTTCTTGGGGGCTTTGTCAAAG ATCAGTTGGCTGTAAATATGTGGATGTAATTCTGGGTTCTCTATTCTGTC TTATTGGTCTCTGTGTCTGTTTTTACACTAACACTACGGTATTTTGGTTA CTATAGCTTTGTAATATATTTTGAAATCAGATGGTGTGATACCTCCAGCT TTGTTCTTTTGGCTCAGGATTGCTTTGGCTATTCA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	84	0.0119	2034	c.756 others(2053): Show c.756+40587_756+40588insATATATATTATATAATATACACATTA TATATATGTGTGTATATATTATATATATACACACATATATAATGTGTGTA TATATAATATATATACACATTATATATAATGTGTATATATATATTATATA TACACACATATATAATGTGTATATATATTATATAATATATACACATTATA TATAATGTGTATATATAATATATATATACACATATATAATGTGTATATAT ATATAATACACACACACACACATATATATACACATTGTATTTCATTATAT ATATATATCACATTTTCTTTATCCACTCATCCCTTTGTGAGAACTTAGGT TGATTCCATACCTTGGCTATTGTGAACAGTGTTGTGATAAACATGTGAAT TCAGGAATCCCTTTGATATGCTGATTTCTTTTCCTTTGGATAGATTCCCA GTACTGATATTGTTGGATTGTATGGTAGTTTTAGTTTTAGTTTTCTGAGA AAACTTCATACTGTTTTTCCATAGCAGTTACTAATTTTCATTTCCACCAA CAGTATATAAGAGTTCCCTTTTCTCTGAATCCTCATCAGCATCTGTTGCT TTTTATATTTTCAATAATACCCAGTCTAATTGGGGTGCTTTGATATCTCA TTGTGGTTTAATTTGCATTTCCCTGATGGTTAGTGATGTTGAGCATTTTT ATCCCTGTTGGCCATTTGTATGTATTCATACATTTTTGAGAAGTGTCTAT TCATATCCTTTGTCCCCCCACCCCCCCGGCTTTTTTTTGAGACAAGGTCC TGCTCTGTCAGCCAGGCTGGCTGGAGTGCTGTGGCATGTTCATAGCTCAT TACAACCTCGAACTTCTGGATTTAAGTGATCCCCCCTGCTTAAGCCTCCT GAGTAGCTGGGACTACCTGTAGGTGCATGCCCCCATGCCCAGCTAATTTT TTTATTTTTCTTTTTGTACAGATGAGTTCTTCCTGTGTTGCCTAGCTGGT CTCAAACTCCTGACCTCAAGTGATACTCCTGCCTTGGCCTCCCAAAGCAC TGGAATTATAGGCATAAGCCACTGAGCCCAGGCCCTTTGCTCATTTTTGA ATGATATTATCATATTTTTACTGTTGAGTTGTTTGAGTTCCTTGTATATT CTGGATATTAGTCCTCTGTCAGATGAGTAATTTGCAAATATACTCTCCCA GTCATGAGGTTGTCTCTTTACTCTATCTATTCTTTTGCTATGCAGAAGTT TCTTAGTTTAATATAGTCTCATTTGTCTATTTTTGTTTTTGTTGCCTGTG CTTTTGAGATCTTAGTTGTAAAATCTTTGCCCAGACAAATGTCCTGAAAA GTTTTCTCTATGCTTTCTTCTAGTAGCTTTATATTTTTGGATCTTATGTT TTAAGTCCTTAATCCATCTTGAGTTAGCTTTTTTTTTTTTTTTTGGAGAC GGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCT CACGGCAAGCTCCACCTCCTGGGTTCACATCATTCTCCTGCCTCAGCCTC CCTAGTAGCTGGGACTACAGGTGCCCGCCGCCACGCCCAGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAA TCTCCTGACCTTGTGATCCGCTGGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCATGAGCCACCGCGCCTGGCTTGAGTTAGCTTTTGTATGTGGTGA GAGATGGGGGTCTAGTTTCATTCTTCTGAATAAATATATATATAATATAT TCAGTTTTCCCAGCATCATTTATTGAAGAGAGTGTTCTTTCCCCAATGTA TGTTCTTGGGGGCTTTGTCAAAGATCAGTTGGCTGTAAATATGTGGATGT AATTCTGGGTTCTCTATTCTGTCTTATTGGTCTCTGTGTCTGTTTTTACA CTAACACTACGGTATTTTGGTTACTATAGCTTTGTAATATATTTTGAAAT CAGATGGTGTGATACCTCCAGCTTTGTTCTTTTGGCTCAGGATTGCTTTG GCTATTCA	RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	7/10			chr14	TogoVar

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Search Results (Total: 10000 hits)