Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(955): Show TCTCTCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCCT CTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCTCTCT CCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCCTG TCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCCTC TCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCTCCCTCACGTCCTCT CTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCCCT CCTCCTCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCTCTC TCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTACCTC TCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTCCTC TCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCCCTC TCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTCCCTCTCCCCCTC TCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTGCCTCTCCTCCTCTC CCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTTCCCTCTCCCCATC TCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCCCT TCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCTCT TCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCTCCTCTCCCTCTCTCCC TGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCCTTC TCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCTCCCCCTCC CTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	320	0.0031	962	c.380 others(979): Show c.380-7767_380-7766insCCCCCTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCTCTCCTCCTCTCCCTC TCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCAT CCCCCTCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCT TCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATC CTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTC TCCCTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTC TCCCCCTCTCCCCCTCCTCCTCCCCTCTCCCTCTCTCCTCTAATCCCTCT CCCTCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCT CTCCCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCT CGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCT GTCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCT CTCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCT GCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCT TTCCCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTT CCTCTCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTC CCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCTC CTCTCCCTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCC CCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTC TCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
COL23A1_chr5_178232618_178595393	178585576	C C	CACAGCCC others(955): Show CACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGTTGATGCT GGGGGTAACACTCCACGTCCCTGGATGGCGCTGGGGTAACACTCCACAGC CCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGTTGGCGCTGGGGTA ATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGAT GGCGCTGGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGTAACACTCC ACAGCCCTGGTTGGCGCTGGGGTAATGCCCTACAGCCCTGGTTGGCGCTG GGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCC TGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAAC GCCCTACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGATGG CGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTAC AGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGG GTAACACTCCACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTG GATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACAC TCCACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGATGGCG CTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAG CCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGT AATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGA TGGCGCTGGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGTAACACTC CACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCT GGGGTAATGCCCT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0217 a0003c0005t0003g0217	1	236	0.0042	962	c.294 others(979): Show c.294+4327_294+4328insAGGGCATTACCCCAGCGCCATCCAGGGC TGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGC GCCATCCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTAGGG CATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCC AGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACC CCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTG TGGAGTGTTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGCGC CATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGAGTG TTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAG GGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCC AGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTG GAGTGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCA TCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATT ACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCAACCAGGG CTGTAGGGCATTACCCCAGCGCCAACCAGGGCTGTGGAGTGTTACCCCAG CGCCATCCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTAGG GCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCAAC CAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTAC CCCAGCGCCATCCAGGGACGTGGAGTGTTACCCCCAGCATCAACCAGGGC TGTAGGGCATTACCCCAGCGCCATCCAGGGCTGT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
CTDP1_chr18_79674803_79759503	79691731	G G	GGGGGAGG others(955): Show GGGGGAGGAGTGGACAGCTCCCTGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGG GTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAG GGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGG TGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAG GGTGGACTCAGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGG TGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGG ACGGCTCCCAGGGTGGACTCGGGGTGGGAGAAGAGTGGACGGCTCCCAGG GTGGACTCGGGGT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	378	0.0053	962	c.315 others(979): Show c.315-3480_315-3479insAGCTCCCTGGGTGGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGG GAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGG GAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGG GAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGG ACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGG GAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGG CTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGA CTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGG GAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGG CTCCCAGGGTGGACTCAGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGA CTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGA GGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGAGAAGAGTGGACGGC TCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGAC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
DDX51_chr12_132131594_132149319	132149050	C C	CACCACAC others(955): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCACTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT CCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCC CTAATCCCCTCGGTGAGTGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCACTCATACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCACTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC CTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC CCTCGGTGAGTGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCACTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	962	c.-47 others(973): Show c.-4755_-4754insAGGAGTGAGGCGGCGGCACTCACCGAGGGGATTA GGGGTGTGGTAGGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTG TGGTGTGAGCGAGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAG TGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGTGAGGC GGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGTGAGGCGGCGGC ACTCACCGAGGGGATTAGGGGTGTGGTAGGAGCGAGGCGGCGGCACTCAC CGAGGGGATTAGGGGTGTGGTATGAGTGAGGCGGCGGCACTCACCGAGGG GATTAGGGGTGTGGTAGGAGTGAGGCGGCGGCACTCACCGAGGGGATTAG GGGTGTGGTAGGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGT GGTATGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTG AGCGAGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGCGAGGCG GCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCA CTCACCGAGGGGATTAGGGGTGTGGTAGGAGTGAGGCGGCGGCACTCACC GAGGGGATTAGGGGTGTGGTAGGAGCGAGGCGGCGGCACTCACCGAGGGG ATTAGGGGTGTGGTATGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGG GGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTG GTAGGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGA GTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGTGAGG CGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGTGAGGCGGCGG CACTCACCGAGGGGATTAGGGGTGTGGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4732		chr12	TogoVar
EXD3_chr9_137301896_137428162	137355534	A A	AGGAGAAG others(955): Show AGGAGAAGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAG GAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGGAGGAAGGAGGAAG GAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAG GAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAG GAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAG GAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAT GGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAA GGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAT GGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAA GGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGA TGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAA AGGAGGAAGGAGGAAGGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGA AGGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGA AAGGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAG GAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGAG GAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGA GGATGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGA GAAAGGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGATGGAGGAAGG AGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGAGGAAGG AGGAAGGGAGGAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0010 a0010	a0010c0006 a0010c0006	a0010c0006t0001 a0010c0006t0001	a0010c0006t0001g0008 a0010c0006t0001g0008	1	82	0.0122	962	c.757 others(977): Show c.757+733_757+734insATCCTCCCTTCCTCCTTCCTCCTTTCTCCT TCCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCATCCTCCC TTTCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCC TTCCTCCTTCCTCCCTTTCTCCTTCCTCCATCCTCCCTTTCTCCTTCCTC CTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTTCTCCTTCCTC CTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTC CTTCCTCCTTCCTCCTTCCTCCCTTCCTCCCTTTCTCCTTCCTCCTTCCT CCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCTTCC TCCTTCCTCCATCCTCCCTTCCTCCTTCCTCCTTTCTCCTTCCTCCTTCC TCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCATCCTCCCTTTCTCCTTC CTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTC CTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCATCCTCCCTTTCTCCTT CCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTTCTCCTTCCTCCTTC CTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCATCCTCCCTTTCTCCTT CCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTT CCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTT CCTCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCTTCCTCCTT CCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCT TCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCT TCCTCCTTCCTCCTTCCTCCTTCCTCTTCTCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
F13A1_chr6_6139084_6325662	6261836	G G	GTGACCCT others(955): Show GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGG TGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTG CTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGT GACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTG ATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCT CCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGA CCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGAT TCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCC AAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACC CTCCAGGTGATTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTC TGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAA GCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCT CCAGGTGATTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTCTG ATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGC GTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCC AGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGAT GTGCTCCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGT GGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAG GTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGT GCTCCAAGCGTGC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	292	0.0034	962	c.571 others(979): Show c.571+4721_571+4722insGCACGCTTGGAGCACATCAGAATCACCT GGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCAC GCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACAT CAGAATCACCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGG AGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGC TTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCA GAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAG GGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTT GGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGA ATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGG TCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGG AGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAAT CACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTC ACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAG CACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCA CCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAC CACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCA CATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACC TGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCA CGCTTGGAGCACATCAGAATCACCTGGAGGGTCA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6261947	G G	GTGACCCT others(955): Show GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGG TGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTG CTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCT GACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTG ATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCT CCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGA CCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGAT TCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTGCTCC AAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACC CTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTC TGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAA GCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCTGACCCT CCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTG ATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGAAGTGCTCCAAGC GTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCC AGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGAT GTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGT GGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAG GTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGT GCTCCAAGCGTGC	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	292	0.0034	962	c.571 others(979): Show c.571+4610_571+4611insGCACGCTTGGAGCACATCAGAATCACCT GGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCAC GCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACAT CAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGG AGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGC TTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACTTCA GAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAG GGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAGCACGCTT GGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGA ATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGG TCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGG AGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAAT CACCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTC ACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAG CACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCA CCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAC CACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAGCACGCTTGGAGCA CATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACC TGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCA CGCTTGGAGCACATCAGAATCACCTGGAGGGTCA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6261984	G G	GTGACCCT others(955): Show GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGG TGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTG CTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCT GACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTG ATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCT CCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGA CCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGAT TCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTGCTCC AAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACC CTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTC TGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAA GCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCTGACCCT CCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTG ATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGAAGTGCTCCAAGC GTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCC AGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGAT GTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGT GGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAG GTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGT GCTCCAAGCGTGC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	292	0.0034	962	c.571 others(979): Show c.571+4573_571+4574insGCACGCTTGGAGCACATCAGAATCACCT GGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCAC GCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACAT CAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGG AGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGC TTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACTTCA GAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAG GGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAGCACGCTT GGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGA ATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGG TCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGG AGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAAT CACCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTC ACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAG CACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCA CCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAC CACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAGCACGCTTGGAGCA CATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACC TGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCA CGCTTGGAGCACATCAGAATCACCTGGAGGGTCA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6262021	G G	GTGACCCT others(955): Show GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGG TGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTG CTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCT GACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTG ATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCT CCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGA CCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGAT TCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCC AAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACC CTCCAGGTGATTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTC TGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAA GCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCT CCAGGTGATTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTCTG ATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGC GTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCC AGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGAT GTGCTCCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGT GGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAG GTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGT GCTCCAAGCGTGC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0122 a0005c0005t0002g0122	1	292	0.0034	962	c.571 others(979): Show c.571+4536_571+4537insGCACGCTTGGAGCACATCAGAATCACCT GGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCAC GCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACAT CAGAATCACCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGG AGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGC TTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCA GAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAG GGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTT GGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGA ATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGG TCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGG AGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAAT CACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTC AGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAG CACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCA CCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAC CACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAGCACGCTTGGAGCA CATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACC TGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCA CGCTTGGAGCACATCAGAATCACCTGGAGGGTCA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATA others(955): Show TATATATATCCATATATATATATATCCATATATATATATATCCATATATA TATATATCCATATATATATATCCATATATATATATATATCCATATATATA TCCATATATATATATATCCATATATATATATCCATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATATATCCATATATA TATATCCATATATATATATATCCATATATATATCCATATATATATATCCA TATATATATATCCATATATATATATATCCATATATATATATATCCATATA TATATATCCATATATATATATCCATATATATATATCCATATATATATATC CATATATATATATCCATATATATATATCCATATATATATCCATATATATA TCCATATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATATCCATATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATCCA TATATATATATATCCATATATATATCCATATATATATATATCCATATATA TATCCATATATATATATATCCATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATATATCCATATATATATCCATATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATATCCATATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATATATCC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0232 a0002c0002t0002g0232	1	284	0.0035	962	c.126 others(979): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATGGATATATATATATATGGATATATATATATGGATATATATATAT ATGGATATATATATGGATATATATATATATGGATATATATATGGATATAT ATATATATGGATATATATATGGATATATATATATATGGATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATGGATATATATATGGATAT ATATATGGATATATATATATGGATATATATATATGGATATATATATATGG ATATATATATATGGATATATATATATGGATATATATATATGGATATATAT ATATATGGATATATATATATATGGATATATATATATGGATATATATATAT GGATATATATATGGATATATATATATATGGATATATATATATGGATATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATGGATATATATATATGGATATATATATATATGGATATATATATGGATAT ATATATATATATGGATATATATATATGGATATATATATATATGGATATAT ATATATATGGATATATATATATATGGATATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LMF1_chr16_848634_975984	858964	C C	CAGTGGTG others(955): Show CAGTGGTGTCACGGGACGCGTGTGCAGTGGTGTCACGGGACGCGTGTGCA GTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGG TGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGT CTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTC GGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGG ACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACG GGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGTTGTCACGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGC AGTGGTGTCTCGGGAGGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCAGGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTTGTGTCT CGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCG GGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGA CGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGATGGGT GTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGA GTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGT GGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGCAGTGAT GTCACGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCT CGGGATGGGTGTG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0069 a0001c0008t0001g0069	1	294	0.0034	962	c.153 others(981): Show c.1530-4259_1530-4258insCACACCCATCCCGAGACACCACTCAC ACCCATCCCGTGACACCACTCACACCCATCCCGTGACATCACTGCACACC CATCCCGTGACACCACTCACACCCATCCCGAGACACCACTGCACACCCAT CCCGAGACACCACTGCACACCCATCCCGAGACACCACTCACACCCATCCC GAGACACCACTCACACCCATCCCGTGACACCACTCACACCCATCCCGAGA CACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACA CCACGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCA CTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTG CACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACAACTCAC ACCCGTCCCGAGACACCACTGCACACCCGTCCCCTGACACCACTCACACC CGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTC CCGAGACACCACTGCACACCCCTCCCGAGACACCACTGCACACCCGTCCC GTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGA CAACACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACAC CACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGACACCAC TGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACA CCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCG TCCCGTGACACCACTCACACCCGTCCCGTGACACCACTGCACACGCGTCC CGTGACACCACTGCACACGCGTCCCGTGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859094	G G	GGACGGGT others(955): Show GGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGG ACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGC AGTGTTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTG GTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGAGGGGTGTGCAGTGGT GTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCAGGGGACGGGTGTGCAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGAC GGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTG TGCGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGC AGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTG GTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTG TCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCA CGGGATGGGTGTGCAGTGATGTCACGGGATGGGTGTGAGTGGTGTCACGG GATGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACG GGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGCAGTGGTGTCACGGGACGGGTGTGAGTGATGTCACGGGACGGGTGTG AGTGGTGTCTCGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0179 a0001c0003t0001g0179	1	294	0.0034	962	c.153 others(981): Show c.1530-4389_1530-4388insTCGAGACACCACTCACACCCGTCCCG TGACATCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGA CACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACAC CACTCACACCCGTCCCGAGACACCACTCACACCCATCCCGTGACACCACT CACACCCATCCCGTGACATCACTGCACACCCATCCCGTGACACCACTCAC ACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTGCACAC CCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCAT CCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCC GAGACACCACTGCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAG ACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACA CCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACC ACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACT GCACACCCGTCCCCTGACACCACTCACACCCGTCCCGAGACACCACTCAC ACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCACACC CCTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACTCACACCCGT CCCGAGACACCACTCACACCCGTCCCGTGACAACACTGCACACCCGTCCC GAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGA CACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACA CCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCAC TGCACACCCGTCCCGAGACACCACTGCACACCCGTC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859094	G G	GGACGGGT others(955): Show GGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGG ACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGC AGTGTTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTG GTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGAGGGGTGTGCAGTGGT GTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCAGGGGACGGGTGTGCAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGAC GGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTG TGCGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGC AGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTG GTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTG TCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCA CGGGATGGGTGTGCAGTGATGTCACGGGATGGGTGTGAGTGGTGTCACGG GATGGGTGTGAGTGTTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGACG GGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGCAGTGGTGTCACGGGACGGGTGTGAGTGATGTCACGGGACGGGTGTG AGTGGTGTCTCGA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0001 a0001c0033t0001	a0001c0033t0001g0275 a0001c0033t0001g0275	1	294	0.0034	962	c.153 others(981): Show c.1530-4389_1530-4388insTCGAGACACCACTCACACCCGTCCCG TGACATCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGA CACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACAC CACTCACACCCATCCCGAGACAACACTCACACCCATCCCGTGACACCACT CACACCCATCCCGTGACATCACTGCACACCCATCCCGTGACACCACTCAC ACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTGCACAC CCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCAT CCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCC GAGACACCACTGCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAG ACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACA CCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACC ACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACT GCACACCCGTCCCCTGACACCACTCACACCCGTCCCGAGACACCACTCAC ACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCACACC CCTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACTCACACCCGT CCCGAGACACCACTCACACCCGTCCCGTGACAACACTGCACACCCGTCCC GAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGA CACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACA CCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCAC TGCACACCCGTCCCGAGACACCACTGCACACCCGTC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859094	G G	GGACGGGT others(955): Show GGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGG ACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGC AGTGTTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTG GTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGAGGGGTGTGCAGTGGT GTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCAGGGGACGGGTGTGCAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGAC GGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTG TGCGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGC AGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTG GTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTG TCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCA CGGGATGGGTGTGCAGTGATGTCACGGGATGGGTGTGAGTGGTGTCACGG GATGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACG GGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGCAGTGGTGTCACGGGACGGGTGTGAGTGATGTCACGGGACGGGTGTG AGTGGTGTCTCGA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0001 a0001c0044t0001	a0001c0044t0001g0034 a0001c0044t0001g0034	1	294	0.0034	962	c.153 others(981): Show c.1530-4389_1530-4388insTCGAGACACCACTCACACCCGTCCCG TGACATCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGA CACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACAC CACTCACACCCGTCCCGAGACACCACTCACACCCATCCCGTGACACCACT CACACCCATCCCGTGACATCACTGCACACCCATCCCGTGACACCACTCAC ACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTGCACAC CCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCAT CCCGTGACACCACTCACACCCATCCCGAGACACCACTGCACACCCGTCCC GAGACACCACTGCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAG ACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACA CCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACC ACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACT GCACACCCGTCCCCTGACACCACTCACACCCGTCCCGAGACACCACTCAC ACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCACACC CCTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACTCACACCCGT CCCGAGACACCACTCACACCCGTCCCGTGACAACACTGCACACCCGTCCC GAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGA CACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACA CCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCAC TGCACACCCGTCCCGAGACACCACTGCACACCCGTC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LUC7L_chr16_183990_234449	186085	G G	GGAGGAAC others(955): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGG AACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGG GGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGC GACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGG AACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCG ACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACA GCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	350	0.0029	962	c.31 others(973): Show c.3112_*3113insTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTT CCTCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGC TGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGT GTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCG TGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCC TCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGT TCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGC TGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGT GTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCC CCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTT CCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGTCG CTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCC GTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCC CCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCC TCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGC TGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGT CGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCC CGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCC TCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCG CTGTTCCTCCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2904		chr16	TogoVar
MEGF6_chr1_3482951_3616508	3502017	G G	GCCTCACA others(955): Show GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCCGCACCTCCTCACATGGGCTCCTGGCGAG TGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGTGCC TCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCACATGGGCTCCT GGCGAGTGTGCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTG CCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCTGTGC CTCACATAGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCTGTGCCTCACATAGGCTCCTGGCGAGTGTG CCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGC GCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGGCGCCTCCTCAC ATGGGCTCCTGGCGAGTGTGCCCCCCCCCGCGCCTCCTCACATGGGCTCC TGGCGAGTGTGCCCCCCACGCCTCCTCACATGGGCTCCTGGCGAGTGTGC CCCCCCGGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCCGC GCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACGCCTCCTCACAT GGGCTCCTGGCGAGTGTGCCCCCCCGGCGCCTCCTCACATGGGCTCCTGG CGAGTGTGCCCCCCCGGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCC CCCCCGGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACGCCT CCTCACATGGGATCCTGGCGAGTGTGCCCCCCCGCACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGT GTGCCCCCCGCCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0152 a0001c0001t0009g0152	1	292	0.0034	962	c.218 others(977): Show c.2189-97_2189-96insAGGCGGGGGGCACACTCGCCAGGAGCCCAT GTGAGGAGGCGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGC GGGGGGGCACACTCGCCAGGATCCCATGTGAGGAGGCGTGGGGGGCACAC TCGCCAGGAGCCCATGTGAGGAGGCGCCGGGGGGGCACACTCGCCAGGAG CCCATGTGAGGAGGCGCCGGGGGGGCACACTCGCCAGGAGCCCATGTGAG GAGGCGCCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGTGGG GGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGGCACACT CGCCAGGAGCCCATGTGAGGAGGCGCCGGGGGGGCACACTCGCCAGGAGC CCATGTGAGGAGGCGTGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAG GCGCGGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCCGGGG GGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTC GCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCC TATGTGAGGCACAGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGC GGGGGGGGCACACTCGCCAGGAGCCTATGTGAGGCACAGGGGGCACACTC GCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCC CATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGA GGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACT CGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCATG TGAGGAGGTGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGT GGGGGGCACACTCGCCAGGAGCCCATGTGAGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
MRPL28_chr16_361969_375538	370338	G G	GCTACCCC others(955): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCACTCAC CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCACTCACCCGCTACCCCGGCCCCCGGCTC TCACCCTCTACCCCGGCCCCCGGCACTCACCCGCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCG GCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCC CGGCACTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCC CCCGGCACTCACCCGCTACCCCTGCCCCCGGCACTCACCCCCTACCCCGG CCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCACCCTCTACCCC GGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACC CCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCACTCACCCCCTA CCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCC TACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCACTCACCC CCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCAC CCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTC ACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCTGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCC CGGCTCTCACCTC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0006 a0010c0017t0006	a0010c0017t0006g0062 a0010c0017t0006g0062	1	394	0.0025	962	c.-7- others(975): Show c.-7-114_-7-113insGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTG AGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGG TGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGG GGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG GAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGT AGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCG GGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGC AGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGG GCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGG GGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGAGGGTGAGAGCC GGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTG CCGGGGGCAGGGGTAGCGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAG AGCCGGGGGCAGGGGTAGCGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTG AGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGAGG TGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGTGCCGGGGGCCGGGGTAGAGGGTGAGAGCCGGGGGCCGGGGTAG CGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGG GTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRTFA_chr22_40405289_40641719	40537435	G G	GGGCCAGC others(955): Show GGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGA GGGAGGTGGGGGGGTCAGCCCTCCGCCGGGCCAGCCGCCCCGTCTGGGAG GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCGGCCCCC CTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTC CAGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCCGCCCGGCCAGCCGCC CCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCGTGC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCAC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGG TCAGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGT CAGCCCTCCGCCC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	256	0.0039	962	c.241 others(981): Show c.241+14670_241+14671insGGGCGGAGGGCTGACCCCCCCACCTC CCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCC CTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGTGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCA GGCGGGGGACTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGG GCGGGGGGGGCTGACCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTG GCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCC CCCACACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGG CGGCTGGCCCGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGC GGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537435	G G	GGGCCAGC others(955): Show GGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAG GGAGGTGGGGGGGTCAGCCCTCCGCCGGGCCAGCCGCCCCGTCTGGGAGG TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCGGCCCCCC TGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC AGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCC ATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCGTGCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCACGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGT CAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGT CAGCCCTCCGCCC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	256	0.0039	962	c.241 others(981): Show c.241+14670_241+14671insGGGCGGAGGGCTGACCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCACCT CCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCT CCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGTGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGC CAGGCGGGGGACTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCGGGGGGGCTGACCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCC CCCCACACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGG GCGGCTGGCCCGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
PGAP6_chr16_365788_386978	370338	G G	GCTACCCC others(955): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCACTCAC CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCACTCACCCGCTACCCCGGCCCCCGGCTC TCACCCTCTACCCCGGCCCCCGGCACTCACCCGCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCG GCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCC CGGCACTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCC CCCGGCACTCACCCGCTACCCCTGCCCCCGGCACTCACCCCCTACCCCGG CCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCACCCTCTACCCC GGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACC CCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCACTCACCCCCTA CCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCC TACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCACTCACCC CCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCAC CCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTC ACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCTGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCC CGGCTCTCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0014 a0010c0015t0014	a0010c0015t0014g0149 a0010c0015t0014g0149	1	376	0.0027	962	c.16 others(973): Show c.1648_*1649insGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAG TGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTG AGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGG TGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGG GTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGC CGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGG GCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGAGGGTGAGAGCCGG GGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCC GGGGGCAGGGGTAGCGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAG CCGGGGGCAGGGGTAGCGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAG TGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGAGGTG AGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGTGCCGGGGGCCGGGGTAGAGGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG CGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGT AGGGGGTGAGAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		449		chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(955): Show TGGGGAGAGAAGGGGAGGGAGAAGGGGATGGGGAGAGAAGGGGATGGGGA GAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGGGAGA CAAGGGGGAGAGAAGGGGAGGGGGAGACAAGGGGGAGAGAAGGGGAGGGG GAGAGAAGGGGAGGGGGAGAGGGGGGGAGAGGGGGAGGGGGAGAGAGGGG GAGAGAAAGGGAGGGGGAGAGAGGGGGAGAGGGGGAGAGAAGGGGAGAGA AGGGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGAGAGAAGGGGAG AGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGAAGGGG AGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGAGAGAAG GGGAGAGAAGGGGAGGGAGAGGAGGGGGAGGAGGGGGAGGAGGGGGGAGG GGGAGAGGGGGAGAGGGGGAGGAGGGGGGAGGGGGAGAGGGGGAGAGGGG GAGAGGGGGAGAGGGGGAGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGG AGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGG GAAATGGGAAGGGGCAAGAGAGAGGGCGAGAGAGAGGGCGGGTGAGAGAG GGCGAGTGAGAGAGAGAGGGCGAGTGAGAGAGAGAGGGCAGGTGAGAGAG AGGGCGAGAGAAAGAGAGGGTGGGCAAGAGAGAGAGGGCAAGGGCGAGAG AGAGAGAGGGCGGGCGAGAGAGGGCGGGCGAGAGAGAGGGCAGGCGAGAG AGAGGGCGGGTGAGAGAGAGAGAGGGTGGGCAAGAGAGAGAGAGAGGGCG GGCAAGAGAGAGAGAGAGAGGGCGGTCAAGAGAGAGAGAGAGGGCGGGCA AGAGAGAGAGTGAGAGGGCGAGAGGGAGAGAGAGGGAGAGGGCGAGAGGG AGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02615.hp1 HG00738.hp2 HG02615.hp1	a0003 a0003	a0003c0004 a0003c0074 a0003c0004 a0003c0074	a0003c0004t0001 a0003c0074t0001 a0003c0004t0001 a0003c0074t0001	a0003c0004t0001g0159 a0003c0074t0001g0149 a0003c0004t0001g0159 a0003c0074t0001g0149	2	308	0.0065	962	c.371 others(979): Show c.3718+654_3718+655insTTTCTCTCCCTCTCCCTCTCGCCCTCTC CCTCTCTCTCCCTCTCGCCCTCTCACTCTCTCTCTTGCCCGCCCTCTCTC TCTCTCTTGACCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTC TCTTGCCCACCCTCTCTCTCTCTCACCCGCCCTCTCTCTCGCCTGCCCTC TCTCTCGCCCGCCCTCTCTCGCCCGCCCTCTCTCTCTCTCGCCCTTGCCC TCTCTCTCTTGCCCACCCTCTCTTTCTCTCGCCCTCTCTCTCACCTGCCC TCTCTCTCTCACTCGCCCTCTCTCTCTCACTCGCCCTCTCTCACCCGCCC TCTCTCTCGCCCTCTCTCTTGCCCCTTCCCATTTCCCCCTCTCCCCCTCC TCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTC CTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCT CCCCCTCCCCCCTCCTCCCCCTCTCCCCCTCTCCCCCTCCCCCCTCCTCC CCCTCCTCCCCCTCCTCTCCCTCCCCTTCTCTCCCCTTCTCTCCCCCTCT CCCCCTCCTCCCCCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCC TCCTCCCCCTCTCCCCCTCCTCCCCCTCCCCTTCTCTCCCCTTCTCTCCC CCTCTCCCCCTCCTCCCCCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCT CCCCCTCTCCCCCTCTCTCCCCCTCCCTTTCTCTCCCCCTCTCTCCCCCT CCCCCTCTCCCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCCCCTTCTCT CCCCCTTGTCTCCCCCTCCCCTTCTCTCCCCCTTGTCTCCCCCTCCCCTT CTCTCCCCCTCTCCCACTCTCTCCCTCCCCTTCTCTCCCCATCCCCTTCT CTCCCCATCCCCTTCTCCCTCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(955): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATG GGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGG GAGACAAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGG GGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGGGGAGGGGG AGAGAGGGGGAGAGAAAAGGAGAGGGGGGAGAGGGGGAGAGAAGGGGAGA GAAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGG GGAGAGGGGGAGAGGTGGAGGAGGGGGAGAGGGGGAGAGGTGGAGGAGGG GGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGGGGA GGGGGAGAGGGGGAGGAGGGGGGGGAGGGGGAGAGGGGGAGAGGGGGAGG AGGGGGAGGGGGAGGAGGGGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGG GGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGGAGAGGGGGGAGGAG GGGGAGAGGGGGAGGAGGGGGAGAGGGGGAAGTGGGAAGGGGCAAGAGAG AGGGCGAGAGAGAGGGCGGGTGAGAGAGGGCGAGTGAGAGAGAGAGGGCG AGTGAGAGAGAGAGGGCAGGTGAGAGAGAGGGCGAGAGAAAGAGAGGGTG GGCAAGAGAGAGAGGGCGAGGGCGAGAGAGAGAGAGGGCGAGAGAGAGAG GGCGGGCGAGAGAGAGGGCAGGCGAGAGAGAGGGCGGGTGAGAGAGAGGG TGGGCAAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGGGCGGG CAAGAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGTGAGAGGGCGAGAG GGAGAGAGAGGGAGAGGGCGAGAGGGAGAGGGAGAGAAAGAGGGAGAGAA AGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0090 a0002c0002t0001g0090	1	308	0.0033	962	c.371 others(979): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCCTCTCAC TCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTC TCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCCTCTCTCTCACCC GCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGCCCTCTCTCTCTCGCCC TCTCTCTCTCTCGCCCTCGCCCTCTCTCTCTTGCCCACCCTCTCTTTCTC TCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCACTCGCCCTCTCTCTCTC ACTCGCCCTCTCTCACCCGCCCTCTCTCTCGCCCTCTCTCTTGCCCCTTC CCACTTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCCTCTC CCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCTC CCCCTCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCTCCCC CTCTCCCCCTCCCCCCCCTCCTCCCCCTCTCCCCCTCCCCCCCCTCCTCC CCCTCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCACCTCT CCCCCTCTCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTCCTCCCCCTCC CCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCC CCCTCTCCCCCCTCTCCTTTTCTCTCCCCCTCTCTCCCCCTCCCCCTCTC TCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCTCTC CCCCTCTCCCCCTCCCCTTCTCTCCCCCTTGTCTCCCCCTCCCCTTCTCT CCCCCTCTCCCACTCTCTCCCTCCCCTTCTCTCCCCATCCCCTTCTCTCC CCATCCCCTTCTCTCCCCATCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79554464	C C	CACCTGGC others(955): Show CACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCT CCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCA CAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCA CCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCC ATCCTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACA GTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACC TGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCAT CCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGT CACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTG GCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCC TCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCA CCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGC CCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTC ACTCACAGTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACC CCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCCGACCTGGCCC TCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCTTCAC TCACAGTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACCCC CGACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTC TCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCTTCACTC ACAGTCACCCCCG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0094 a0001c0001t0004g0094	1	154	0.0065	962	c.-32 others(983): Show c.-320+56361_-320+56362insCGGGGGTGACTGTGAGTGAAGATG GAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGT GAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTCGGGGGTGACTGT GAGTGAGGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAAGATGGA GAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTCG GGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGA GTGAGGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAGGATGGAGA GGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGG GGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGT GAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGG GCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGG TGACTGTGAGTGAGGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGA GGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGC CAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTG ACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGG ATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAGGATGGAGAGGGCCA GGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGAC TGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGAT GGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGG TGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
SENP7_chr3_101319205_101518212	101439985	T T	TGGGAGGT others(955): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCGG CCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CATCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCG TCCAGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCT GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG GGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTAAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCTGGCC AGCCGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0085 a0002c0002t0003g0085	1	370	0.0027	962	c.284 others(981): Show c.284+18969_284+18970insGGACGGGGCGGCTGGCCAGGCAGGGG GGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTTACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCT GGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101439985	T T	TGGGAGGT others(955): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCGG CCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CATCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCG TCCAGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCT GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG GGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTAAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCTGGCC AGCCGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0005 a0002c0002t0003g0005	1	370	0.0027	962	c.284 others(981): Show c.284+18969_284+18970insGGACGGGGCGGCTGGCCAGGCAGGGG GGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTTACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCT GGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101439985	T T	TGGGAGGT others(955): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCGG CCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CATCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCG TCCAGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCT GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG GGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTAAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCTGGCC AGCCGCCCCGTCC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0087 a0002c0002t0003g0087	1	370	0.0027	962	c.284 others(981): Show c.284+18969_284+18970insGGACGGGGCGGCTGGCCAGGCAGGGG GGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTTACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCT GGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SHANK1_chr19_50654255_50724802	50678939	A A	ATGGGGAG others(955): Show ATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTC AGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAG GGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGAT GGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCA GGGTGTGGGGAGGGGTCAGGATGATGGGGAGGGGTCAGGGTGATGGGGAG GGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGTG GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGG GTGTGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGG TCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGG GGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGT GTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTC AGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCA TTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGG GGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGAT GGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCA GGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGA GGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG ATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTC AGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGG AGGGGTCAGGGTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02630.hp1 HG03540.hp2 others(1): Show HG02145.hp2 HG02630.hp1 HG03540.hp2 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0032 a0001c0003 a0001c0032	a0001c0003t0004 a0001c0003t0007 a0001c0032t0018 a0001c0003t0004 a0001c0003t0007 a0001c0032t0018	a0001c0003t0004g0254 a0001c0003t0007g0074 a0001c0003t0007g0087 others(1): Show a0001c0003t0004g0254 a0001c0003t0007g0074 a0001c0003t0007g0087 a0001c0032t0018g0185	4	316	0.0127	962	c.257 others(981): Show c.2578-6826_2578-6825insCACCCTGACCCCTCCCCATCACCCTG ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT CACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCT CCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTT GACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCA TCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCC CTCCCCATCACCCTGACCCCTCTCCATCACACTGACCCCTCTCCATCACA CTGACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACCCT GACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCAT CACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTC CCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGAC CCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACAC CCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCC CACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCC CTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCC TGACCCCTCCCCATCATCCTGACCCCTCCCCACACCCTGACCCCTCCCCA TCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCC CTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCATCATCT TGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCAT CACCCTGACCCCTCCCCACACCCTGACCCCTCCCCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SNRNP35_chr12_123453139_123471936	123453160	A A	ATATATAT others(955): Show ATATATATATAAATATATATAAATATATATAAATATATATATAAATATAT ATAAATATATATAAATATATATATAAATATATATAAATATATATAAATAT ATAAATATATATAAATATATATATAAATATATATAAATATATATAAATAT ATATATAAATATATATAAATATATATATAAATATATATAAATATATATAA ATATATATATAAATATATATACATATATATAAATATATATAAATATATAT ACATATATAAATATATAAAAAATATATAAATATATAAAAAATATATAAAT ATATAAAAATATATATAAATATATATAAATATATATACATATATATACAT ATATATAAATATATAAAAATATATAAATATATATAAATATAAATATATAC AAATATATATATAAATATGTATAAATATATAAAAATATATATATAAATAT ATAAAAATATATATATTAATATATAAAAATATATATATTAATATATAAAA ATATATATAAATATATATATAAATATATATATATAAATATATATAAAAAT ATATATAAAAATATATATAAATATATATATAAATATATATAAATATATAT AAATATATATAAATATATATAAATATATATAAATATATATAAATATATAT ATAAATATATATAAATATATATATAAATATATATAAACATATATAAATAT ATATAAAAATATATATAAATATATATAAATATATATAAATATATATAAAA ATATATATAAATATATATATAAATATATATAAATATATATATAAATATAT ATAAATATATATAAATATATAAAAAATATATATAAATATATAAATATATA TATATAAATATATATAAATATATAAAAAAAATATATATAAATATATATAA ATATATTTATATATATAAATATATTTATATATAAATATAAATATATATAA ATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01074.hp1 HG00639.hp2 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	186	0.0108	962	c.-50 others(973): Show c.-5060_-5059insTATATATATAAATATATATAAATATATATAAATA TATATATAAATATATATAAATATATATAAATATATATATAAATATATATA AATATATATAAATATATAAATATATATAAATATATATATAAATATATATA AATATATATAAATATATATATAAATATATATAAATATATATATAAATATA TATAAATATATATAAATATATATATAAATATATATACATATATATAAATA TATATAAATATATATACATATATAAATATATAAAAAATATATAAATATAT AAAAAATATATAAATATATAAAAATATATATAAATATATATAAATATATA TACATATATATACATATATATAAATATATAAAAATATATAAATATATATA AATATAAATATATACAAATATATATATAAATATGTATAAATATATAAAAA TATATATATAAATATATAAAAATATATATATTAATATATAAAAATATATA TATTAATATATAAAAATATATATAAATATATATATAAATATATATATATA AATATATATAAAAATATATATAAAAATATATATAAATATATATATAAATA TATATAAATATATATAAATATATATAAATATATATAAATATATATAAATA TATATAAATATATATATAAATATATATAAATATATATATAAATATATATA AACATATATAAATATATATAAAAATATATATAAATATATATAAATATATA TAAATATATATAAAAATATATATAAATATATATATAAATATATATAAATA TATATATAAATATATATAAATATATATAAATATATAAAAAATATATATAA ATATATAAATATATATATATAAATATATATAAATATATAAAAAAAATATA TATAAATATATATAAATATATTTATATATATAAATATATTTATATATAAA TATAAATATATATAAATATATATATATT	SNRNP35	ENSG00000184209.15	transcript	ENST00000526639.3	protein_coding		4978		chr12	TogoVar
VCX3A_chrX_6528618_6540118	6532895	C C	CCACACAC others(955): Show CCACACACCACCTCTTCCTCCCTCCCTCCCCCCACACACCACCTCTTCCT CCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACA CCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTC CCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACC TCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCC CTCCCTCCCCACACACCACCTCTTCCTCACCTCCCTCCCTCCCCACACAC CTCCTCTTCCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCC CTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACC ACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCC TCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTC CTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACC ACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCC TCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCC TCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCA CCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCT CCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTCC TCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACC ACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCC TCCCCACACACCTCCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTC CTCCCTCCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	74	0.0135	962	c.84 others(971): Show c.849_*850insAGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGTG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGAGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAG AGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGGG AGGGAGGGAGGAAGAGGTGGTGTGTG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		722		chrX	TogoVar
YBEY_chr21_46281342_46302751	46292556	G G	GCAAGTTA others(955): Show GCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCCGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCCGGACTCAGTGGAGTCAGCCACAC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGG GACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGA CTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTA GACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAA CTCTAGATTAAATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCCGGACTCAGTGGAGTCAGCCACGCAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGGGACAGCCACA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	404	0.0025	962	c.339 others(979): Show c.339+1101_339+1102insGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCCGGACTCAGTGGAGTCAGCCACACAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCCGGACTCAGT GGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG AGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCATGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAG ATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGG ACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCATGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGTGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCCGGACTCAGTGGAGTCAGCC ACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGGGACAGCCACACAAGTTA	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46292918	A A	ACAGCCAC others(955): Show ACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTC AGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAG CCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCC ACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCAC GCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACAC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCC GGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGAGT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	404	0.0025	962	c.339 others(979): Show c.339+1509_339+1510insATGCCCGGGACTCAGTGGAGTCAGCCAC GCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACAC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGT TAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGA CTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTA AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46292934	G G	GACTCTAG others(955): Show GACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACT CAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGT GGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG AGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAG ATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAG TCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACGAAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAG CCACACAAGTTAA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	404	0.0025	962	c.339 others(979): Show c.339+1509_339+1510insATGCCCGGGACTCAGTGGAGTCAGCCAC GCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACAC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGA CTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTA AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACT CAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGGGACAGCCACGAAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293868	G G	GACTCAGT others(955): Show GACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTA AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACT CAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGAGTCAGCCATGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGAGACAGCCACACAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG AATCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAG ATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAG TCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0219	1	404	0.0025	962	c.340 others(979): Show c.340-2285_340-2284insAGTCAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTC AGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAG CCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC ATGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCC ACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGAGTCAGCCATGCAAGTTAGACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGACAGCCAC ACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGAATCAGCCACACAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGAACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294192	A A	AACTCTAG others(955): Show AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCTGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCTGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG GGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAG ATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGG ACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTC AGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCATGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAG CCACGCAAGTTAG	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0291 a0001c0001t0002g0291	1	404	0.0025	962	c.340 others(979): Show c.340-1915_340-1914insGGACAGCCACGCAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTC AGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCTGTGCCCGGGACTCAGTGGAGTCAG CCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCTGTGCCCGGGACTCAGTGGAGTCAGCC ACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCAC ACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGC CCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACGCAA GTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294250	T T	TCAGCCAC others(955): Show TCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCATGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAG CCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGTGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCC ACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCAC GCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGC AAGTTAAACTCTAGATTAAATTCCTCCCGTGGTTAGCCTGACCCGTGCCC GGGACTCAGTTGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAA GTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGGGA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0311 a0001c0001t0002g0311	1	404	0.0025	962	c.340 others(979): Show c.340-1905_340-1904insACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACGCAA GTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGT GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTA AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGTGGTTAG CCTGACCCGTGCCCGGGACTCAGTTGGGACAGCCACGCAAGTTAGACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG GGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCGTGCCCGGGACTCAGTGGGGACAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294304	G G	GTGCCCGG others(955): Show GTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCC ACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCAC GCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGC CCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACAC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTA AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	404	0.0025	962	c.340 others(979): Show c.340-1831_340-1830insACAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGT TAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGA CTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTA GACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG GGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCATGCCCGGGACTCAGTGGAGTCAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294383	C C	CGGGACTC others(955): Show CGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCT CCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACA AGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCG GGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCC CGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAG TTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGG ACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCG CGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTT AGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGAC TCAGTGGGGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAG ACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTC AGTGGGGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGT TAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGAC TCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAG TGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTA GCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTC TAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTG GGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	404	0.0025	962	c.340 others(979): Show c.340-1767_340-1766insAGTCAGCCACGCAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTC AGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAG CCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCC ACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGGGTCAGCCACACAAGTTAGACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCAC GCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGGGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGG GACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCTGGGACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294693	G G	GTCAGCCA others(955): Show GTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCATGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGA CAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCATGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCA GCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGC CACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAAT TCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCA CGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTG CCCCGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTC CTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACG CAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCC CGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCT CCCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCGGCCACGCA AGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCG GGACTCGGTGGAA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0200 a0001c0001t0003g0200	1	404	0.0025	962	c.340 others(979): Show c.340-1461_340-1460insACAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACGCAA GTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACACAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTA GACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCCGGACTCAGTGGGGACAGCCACGCAAGTTAAACT CTAGATTAAATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGG AGTCGGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCATGCCCGGGACTCGGTGGAATCAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294693	G G	GTCAGCCA others(955): Show GTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGT CAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACA GCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGC CACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAAT TCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCA CGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTG CCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTC CTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACG CAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCC CGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCT CCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACA AGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCG GGACTCGGTGGAA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	404	0.0025	962	c.340 others(979): Show c.340-1461_340-1460insGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAA GTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGT TAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTA AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG AGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCATGCCCGGGACTCGGTGGAATCAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACTATA others(956): Show GTACTATATATATTTTATATATAGTATGTACTATATATATTTTATATATA GTATGTACTATATATATTTTATATATAGTATGTACATTGTATATACTATA TATATATTTTATGTATAGTATGTACATTGTATATACTATATATATATTTT ATGTATATTATGTACTATATATATTTTATACATAGTATATACACTGTATA TACTATATATATTTTATACATAGTATATACACTGTATATACTATATATAT TTTATACATACATAGTATATACACTGTATATACTATATATATTTTATACA TAGTATATACACTGTATATACTATATATATTTTATACATAGTATATACAC TGTATATACTATATATATTTTATACATAGTATATACACTGTATATACTAT ATATATTTTATACATAGTATATACACTGTATATACTATATATATTTTATA CATAGTATATACACTGTATATACTATATATATTTTATACATAGTATATAC ACTGTATATACTATATATATTTTATACATAGTATATACACTGTATATACT ATATATATTTTATACATAGTATATACACTGTATATACTATATATATTTTA TACATAGTATATACACTGTATATACTATATATATTTTATACATAGTATAT ACACTGTATATACTATATATATTTTATACATAGTATATACACTGTATATA CTATATATATTTTATACATAGTATATATACTGTATATACTATATATATTT TATACATAGTATATATACTGTATATACTATATATATTTTATACATAGTAT ATATACTGTATATACTATATATATTTTATATATAGTATATATACTGTATA TACTATATATATTTTATATATAGTATATATACTGTATATACTATATATAT TTTATATATAGTATATATACTGTATATACTATATATATTTTATATATAGT ATATATACTGTATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0024 a0003c0005t0024	a0003c0005t0024g0023 a0003c0005t0024g0023	1	182	0.0055	963	c.505 others(982): Show c.505-41258_505-41257insTATACAGTATATATACTATATATAAA ATATATATAGTATATACAGTATATATACTATATATAAAATATATATAGTA TATACAGTATATATACTATATATAAAATATATATAGTATATACAGTATAT ATACTATATATAAAATATATATAGTATATACAGTATATATACTATGTATA AAATATATATAGTATATACAGTATATATACTATGTATAAAATATATATAG TATATACAGTATATATACTATGTATAAAATATATATAGTATATACAGTGT ATATACTATGTATAAAATATATATAGTATATACAGTGTATATACTATGTA TAAAATATATATAGTATATACAGTGTATATACTATGTATAAAATATATAT AGTATATACAGTGTATATACTATGTATAAAATATATATAGTATATACAGT GTATATACTATGTATAAAATATATATAGTATATACAGTGTATATACTATG TATAAAATATATATAGTATATACAGTGTATATACTATGTATAAAATATAT ATAGTATATACAGTGTATATACTATGTATAAAATATATATAGTATATACA GTGTATATACTATGTATAAAATATATATAGTATATACAGTGTATATACTA TGTATAAAATATATATAGTATATACAGTGTATATACTATGTATAAAATAT ATATAGTATATACAGTGTATATACTATGTATGTATAAAATATATATAGTA TATACAGTGTATATACTATGTATAAAATATATATAGTATATACAGTGTAT ATACTATGTATAAAATATATATAGTACATAATATACATAAAATATATATA TAGTATATACAATGTACATACTATACATAAAATATATATATAGTATATAC AATGTACATACTATATATAAAATATATATAGTACATACTATATATAAAAT ATATATAGTACATACTATATATAAAATATATATAGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADPRHL1_chr13_113394611_113458488	113419038	C C	CCCCTTCC others(956): Show CCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTT CCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTC CCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCT TCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCT TCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCC CTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTC CTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTT CTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCC CCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTT TTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCT TTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTTCTTCCCCTTCCCCT CCCCTTCCCTTCCTTCTTTTCCTTCCCTCCTTCCCTCCCTCCCTCCCTCC CTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTT CCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTT CTTCCCCTTCCCCT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0006	1	262	0.0038	963	c.106 others(982): Show c.1061+3787_1061+3788insAGGGGAAGGGGAAGAAAGGAAGGAAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAG GGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAG GGAGGGAAGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGA AGAAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAA GGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGG AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGG AAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGG GAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAG GGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGG AGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAG GGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGA AGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGG GGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGG AGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAG GAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAG GGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
C2CD4C_chr19_400445_414147	410763	G G	GTCCTGGG others(956): Show GTCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCACGGATCCTTGGGGTCT GTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCT GCTGGGCCCGGATCCTGGGGGTCTGTCCACCACCCCTGCTGGGCCCGGAT CCTGGGGGTCTGTCCACCGCCCCTGCTGGGAACGGATCCTGGGGGTCTGT CCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGC TGGGCCCGGATCCTGGGGGGTCTGTCCACCGTCACTGCTGGGCCCGGATC CTGGGGATCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTC CACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCT GGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGAACGGATCCT GGGGGTCTGTCCACCACCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCA CCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGG GCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGAACGGATCCTGG GGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACC GCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGC CCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGG GTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGATCTGTCCACCGT CTCTGCTGGGCCCGGATCCTTGGGGTCTGTCCACCACCCCTGCTGGGCAC GGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGT CTGTCCACCGTCTCTGCTGGGCCCGGATCCTTGGGGTCTGTCCACCACCC CTGCTGGGCCCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0107	a0001c0001t0107g0088 a0001c0001t0107g0088	1	322	0.0031	963	c.-17 others(974): Show c.-1799_-1798insTCCGGGCCCAGCAGGGGTGGTGGACAGACCCCAA GGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGGGCCCA GCAGAGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGTGGTGG ACAGACCCCAAGGATCCGGGCCCAGCAGAGACGGTGGACAGATCCCCAGG ATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGTGCCCAGC AGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGAC AGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGAT CCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTTCCCAGCAG GGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAG ACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCC GGGCCCAGCAGGGGTGGTGGACAGACCCCCAGGATCCGTTCCCAGCAGGG GCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGAC CCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGG GCCCAGCAGAGACGGTGGACAGATCCCCAGGATCCGGGCCCAGCAGTGAC GGTGGACAGACCCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACC CCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGTT CCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGTG GTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCC CAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCAAGGATCCGTGCC CAGCAGAGACGGTGGACAGACCCCCAGGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1617		chr19	TogoVar
CCDC77_chr12_396644_447642	422064	C C	CCTCCATG others(956): Show CCTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAG AGGGTAAACACACATAGCAGCACCCTCCATACTCCATTACAGTGCACTTC TGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACCC TCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAG GGTAAAATACACATAGCAGCACCCTCCATGTTCCATTACAGTGCTCTTCT GTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTC CATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGG TAAAATACACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGT GTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCA TGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTA AAATACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGT GTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATG TTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAA CACACATAGCAGCACCCTCCATACTCCATTACAGTGCTCTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATGTTC CATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATA CACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTG TGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGCTCCA TTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACA CACATAGCAGCACA	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0015 a0003c0003t0001g0015	1	432	0.0023	963	c.413 others(980): Show c.413+3435_413+3436insTTCCATTACAGTGCGCTTCTGTGTGTGT GTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATACTCCA TTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACAC ACATAGCAGCACCCTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGT GCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGTTCCAT TACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACAC ATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGC TGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGCTCCATTA CAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACAT AGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTG GGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGCTCCATTACA GTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAG CAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGG AGTGAGAGGGTAAACACACATAGCAGCACCCTCCATACTCCATTACAGTG CTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAG CACCCTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGT GAGAGGGTAAAATACACATAGCAGCACCCTCCATGTTCCATTACAGTGCA CTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCA CACTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGA GAGGGTAAAATACACACATAGCAGCACACTCCATG	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	422064	C C	CCTCCATG others(956): Show CCTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAG AGGGTAAACACACATAGCAGCACCCTCCATACTCCATTACAGTGCACTTC TGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACCC TCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAG GGTAAAATACACATAGCAGCACCCTCCATGTTCCATTACAGTGCTCTTCT GTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTC CATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGG TAAAATACACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGT GTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCA TGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTA AAATACACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGT GTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATG TTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAA CACACATAGCAGCACCCTCCATACTCCATTACAGTGCTCTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATGTTC CATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATA CACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTG TGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGCTCCA TTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACA CACATAGCAGCACA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02735.hp2 HG01358.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0240 a0001c0001t0001g0156 a0001c0001t0001g0240	2	432	0.0046	963	c.413 others(980): Show c.413+3435_413+3436insTTCCATTACAGTGCGCTTCTGTGTGTGT GTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATACTCCA TTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACAC ACATAGCAGCACCCTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGT GCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGTTCCAT TACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACAC ATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGC TGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGCTCCATTA CAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACAT AGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTG GGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGTTCCATTACA GTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAG CAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGG AGTGAGAGGGTAAACACACATAGCAGCACCCTCCATACTCCATTACAGTG CTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAG CACCCTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGT GAGAGGGTAAAATACACATAGCAGCACCCTCCATGTTCCATTACAGTGCA CTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCA CACTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGA GAGGGTAAAATACACACATAGCAGCACACTCCATG	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CDON_chr11_125951821_126067866	126065143	G G	GTGATAGT others(956): Show GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0297 a0002c0003t0011g0297	1	334	0.0030	963	c.-26 others(974): Show c.-2627_-2626insTCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTA ATACTATCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAAT ACTACCACCTCTTAATACTACCACCTCTTAATACTATCACCTCTTAATAC TATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTA TCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTA ATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAAT ACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATAC TATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTA TCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2278		chr11	TogoVar
ENTREP2_chr15_29115252_29575979	29131600	T T	TCACACAC others(956): Show TCACACACCCCAGCCCCCATCACCTCCCCCTCCACACACACCCCAGCCCC CATCACCTCCCCCTCCACACACACCCCAGCCCCCATCACCTCCCCCTCCA CACACACCCCAGCCCCCATCACCTCCCCCTCCACACACACCAGCCCCCCA CATCACCTCCCCCTCCTCCACACACACCAGCCGCCCAAATTGCCTCCCCC TTCACACACTCCATCCCCCCAAATCACCTCCCCTCGACACACCCCAGCCC CTCACATCACCTCCCCTCCACACACACCCCAGCCCCCCACATCACCTCCC CCTCCTCCACACACCCCAGCCCCCCACATCACCTCCCCCTCCTCCACACA CACCCCAGCCCCCCACATCACCTCCCCCTCCTCCACACACACCCCAGCCC CCCACATCGCCTCCCCCTCCACACACCCCAGCCCCCCACATCGCCTCCCC CTCCACACACCCCAGCCCCTCCTCATCGCCTCCCCCTCCACACACACCCC AGGCCCCCCACATCGCCTCCCCCTCCACACACACCCCAGGCCCCCCACAT CACCTCCACCTCCACACACTCCAGCCCCTCCTCATCGCCTCCCCCTCCAC ACATACCCCAGGCCCCCCACATCACCTCCACCTCCACACACACCCCAGGC CCCCCACATCGCCTCCCCCTCCACACACACCCCAGGCCCCCCACATCACC TCCACCTCCACACACACCCCAGGCCCCCCACATCGCCTCCCCCTCCACAC ACACCCCAGGCCCCCCACATCGCCTCCCCCTCCTCCACACACCCCAGCCC CCCACATCGCCTCCCCCTCCTCCACACACCCCAGCTCCCCACATCGCCTC CCCCTCCACACACACCCCAGGCCCCTCCTCATCGCCTCCCCCTCCACACA CACCCCAGCCCCCATCACCTCCCCCTCCACACACACCAGCCCCCCACATC ACCTCCCCCTCCTC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0031 a0001c0011t0031	a0001c0011t0031g0035 a0001c0011t0031g0035	1	125	0.0080	963	c.928 others(980): Show c.928-2737_928-2736insGAGGAGGGGGAGGTGATGTGGGGGGCTG GTGTGTGTGGAGGGGGAGGTGATGGGGGCTGGGGTGTGTGTGGAGGGGGA GGCGATGAGGAGGGGCCTGGGGTGTGTGTGGAGGGGGAGGCGATGTGGGG AGCTGGGGTGTGTGGAGGAGGGGGAGGCGATGTGGGGGGCTGGGGTGTGT GGAGGAGGGGGAGGCGATGTGGGGGGCCTGGGGTGTGTGTGGAGGGGGAG GCGATGTGGGGGGCCTGGGGTGTGTGTGGAGGTGGAGGTGATGTGGGGGG CCTGGGGTGTGTGTGGAGGGGGAGGCGATGTGGGGGGCCTGGGGTGTGTG TGGAGGTGGAGGTGATGTGGGGGGCCTGGGGTATGTGTGGAGGGGGAGGC GATGAGGAGGGGCTGGAGTGTGTGGAGGTGGAGGTGATGTGGGGGGCCTG GGGTGTGTGTGGAGGGGGAGGCGATGTGGGGGGCCTGGGGTGTGTGTGGA GGGGGAGGCGATGAGGAGGGGCTGGGGTGTGTGGAGGGGGAGGCGATGTG GGGGGCTGGGGTGTGTGGAGGGGGAGGCGATGTGGGGGGCTGGGGTGTGT GTGGAGGAGGGGGAGGTGATGTGGGGGGCTGGGGTGTGTGTGGAGGAGGG GGAGGTGATGTGGGGGGCTGGGGTGTGTGGAGGAGGGGGAGGTGATGTGG GGGGCTGGGGTGTGTGTGGAGGGGAGGTGATGTGAGGGGCTGGGGTGTGT CGAGGGGAGGTGATTTGGGGGGATGGAGTGTGTGAAGGGGGAGGCAATTT GGGCGGCTGGTGTGTGTGGAGGAGGGGGAGGTGATGTGGGGGGCTGGTGT GTGTGGAGGGGGAGGTGATGGGGGCTGGGGTGTGTGTGGAGGGGGAGGTG ATGGGGGCTGGGGTGTGTGTGGAGGGGGAGGTGATGGGGGCTGGGGTGTG TGTGGAGGGGGAGGTGATGGGGGCTGGGGTGTGTG	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	7/10			chr15	TogoVar
GAK_chr4_844277_937316	926877	C C	CCTCCCCG others(956): Show CCTCCCCGCTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCGGCTCAC CTGCAGTCCGCACTGCCCCGCAACCCCCCCCCACCCCGCTCACCTGCGCT CCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCG CACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCACACCCCTCCCCGC TCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCC GCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCGCA CCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCCGCTC ACCTGCAGTCCGCACTGCCCCACACCCCTCCCCGCTCACCTGCGCTCCGC ACTGCCCCGCACCCCTCCCCGCTCACCTGCGCCCCGCACTGCCCCGCACC CCTCCCCGCTCACCTGCGGTCCGCACTGCCCCGCACCCCTCCCGGCTCAC CTGCCCTCCGCACTGCCCCACACCCCTCCCCGCTCACCTGCGCTCCGCAC TGCCCCACACCCCTCCCCGCTCACCTGCGCTCCGCACTGCCCCACACCCC TCCCGGCTCACCTGCGGTCCGCACTGCCCCACACCCCTCCCGGCTCACCT GCGCTCCGCACTGCCCCACACCCCTCCCCGCTCACCTGCGCTCCGCACTG CCCCGCACCCCTCCCGGCTCACCTGCGGTCCGCACTGCCCCGCACCCCTC CCGGCTCACCTGCGGTCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGC AGTCCCCACTGCCTCGCACCCCTCCCCGCTCACCTGCAGTCCCCACTGCC CCGCACCCCTCCCCACTCACCTGCAGTCCGCACTGCCCCACACCCCTCCC GGCTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCAG TCCGCACTGCCCCG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0351 a0001c0001t0007g0351	1	390	0.0026	963	c.145 others(980): Show c.145+5165_145+5166insCGGGGCAGTGCGGACTGCAGGTGAGCCG GGAGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCCGGGAGGGGTGTGGG GCAGTGCGGACTGCAGGTGAGTGGGGAGGGGTGCGGGGCAGTGGGGACTG CAGGTGAGCGGGGAGGGGTGCGAGGCAGTGGGGACTGCAGGTGAGCCGGG AGGGGTGCGGGGCAGTGCGGACCGCAGGTGAGCCGGGAGGGGTGCGGGGC AGTGCGGACCGCAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGAGCGCA GGTGAGCGGGGAGGGGTGTGGGGCAGTGCGGAGCGCAGGTGAGCCGGGAG GGGTGTGGGGCAGTGCGGACCGCAGGTGAGCCGGGAGGGGTGTGGGGCAG TGCGGAGCGCAGGTGAGCGGGGAGGGGTGTGGGGCAGTGCGGAGCGCAGG TGAGCGGGGAGGGGTGTGGGGCAGTGCGGAGGGCAGGTGAGCCGGGAGGG GTGCGGGGCAGTGCGGACCGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTG CGGGGCGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGAGCGCAGGTG AGCGGGGAGGGGTGTGGGGCAGTGCGGACTGCAGGTGAGCGGGGAGGGGT GCGGGGCAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCG GACTGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAG CGGGGAGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCGGGGAGGGGTGT GGGGCAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGA CTGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCG GGGTGGGGGGGGGTTGCGGGGCAGTGCGGACTGCAGGTGAGCCGGGAGGG GTGCGGGGCAGTGCGGAGCGCAGGTGAGCGGGGAG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAGA others(956): Show TAAGAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAACGAAACGAAA CGAAACGAAACGAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0029 a0002c0003t0003g0029	1	308	0.0033	963	c.127 others(982): Show c.1278+2116_1278+2117insTTCGTTTCGTTTCGTTTCGTTTCGTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
KIRREL3_chr11_126418358_127005770	126632686	G G	GCCACAAG others(956): Show GCCACAAGCCTCCTTCCCTGTGCAGCTGCTTTTCTGTCCTGCCCAAGAGC AGCCCTGGGGAGGGGGCAATTGAGTGAGGGACTGCGAATGCCAGAAAACA TGGGTGAGAAGCATGTCCGCACCTCCCACCCAACCTGGTGGGAATCCTGT AAAGCCTGCCTGAACTCTTGTTCATATCGTTGCTGCATACTGGGCATTGG GAGATAAAAATTGATGAGGAGACATTAGTATACTTGTTACAGCAGTGGCT AATATGCAGTGGAGGAGGCTTGTGGGGAGAGAGAGAGAGAGAGAGAAAAG AAGAAGAAAAAGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGAAGGAGGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA GGAAGGAAAGGAAGGAACGGTAGCGGCTATCCAAGGTGCGGACAACAGCC CTTATAGCCCTTATGCAGCTCAGATGCCCACTCCATGACAGGTATGAGCT GACCTGGGCATGCATTCTCTGCAGGGAGACAATTACTGTTGCTGTGTGTG ACAGGGTTGATACATCCTGCTGAAGGTAGGCATCTCTGTGTTTCCTTATT TTGTAATCCTTTCAAGCCTTCTGAATCCAGCCTCTGTCTCCAGCTGTCCA GTTCTGGACAAGCCTGCTACTCAGTGGAACCCCTCGTTTCTACCCCCAGG TGGTCTAGGCACTGAGGCTACAGAGGGCTATAAGGGCTGTTGTCCGCACC TTGGATAGCCGCTACCGTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCC TTTCCTTCCTTTCCTTTCCTTTCCTTTCTTTTTCTTCTTCTTTTCTCTCT CTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0057 a0001c0002t0008g0057	1	114	0.0088	963	c.56- others(980): Show c.56-69775_56-69774insGGAGAGAGAGAGAGAGAGAGAAAAGAAG AAGAAAAAGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGAAGGAGGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAAGGAAGGAACGGTAGCGGCTATCCAAGGTGCGGACAACAG CCCTTATAGCCCTCTGTAGCCTCAGTGCCTAGACCACCTGGGGGTAGAAA CGAGGGGTTCCACTGAGTAGCAGGCTTGTCCAGAACTGGACAGCTGGAGA CAGAGGCTGGATTCAGAAGGCTTGAAAGGATTACAAAATAAGGAAACACA GAGATGCCTACCTTCAGCAGGATGTATCAACCCTGTCACACACAGCAACA GTAATTGTCTCCCTGCAGAGAATGCATGCCCAGGTCAGCTCATACCTGTC ATGGAGTGGGCATCTGAGCTGCATAAGGGCTATAAGGGCTGTTGTCCGCA CCTTGGATAGCCGCTACCGTTCCTTCCTTTCCTTCCTTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTT CCTTCCTTTCCTTTCCTTTCCTTTCTTTTTCTTCTTCTTTTCTCTCTCTC TCTCTCTCTCCCCACAAGCCTCCTCCACTGCATATTAGCCACTGCTGTAA CAAGTATACTAATGTCTCCTCATCAATTTTTATCTCCCAATGCCCAGTAT GCAGCAACGATATGAACAAGAGTTCAGGCAGGCTTTACAGGATTCCCACC AGGTTGGGTGGGAGGTGCGGACATGCTTCTCACCCATGTTTTCTGGCATT CGCAGTCCCTCACTCAATTGCCCCCTCCCCAGGGCTGCTCTTGGGCAGGA CAGAAAAGCAGCTGCACAGGGAAGGAGGCTTGTGG	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
MFRP_chr11_119333942_119351705	119351506	C C	CTCCTCTC others(956): Show CTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCC CTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCC CTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCT CTCTCCTCCCCTCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTC CTCTCTCCTCCCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTC CCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCCTCTCTC CTCCGCTCCGCTCCCCTCTCCTCCACTCCTCTCCCCTCCCTTCCCCTCTC CTCCCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCCCTCCCCTCCTC TCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTCCCCTCCCCTCTCCTCC GCTCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCT CCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCT CTCCTCCCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTT CCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCGCTCCCCTCCCCCTCTC CTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCC CTCCCCTCTCCTCTGCTCCTCTCCTCCCTTCCCCTCTCCTCCCCTCCTCT CTCCTCCCCTCCCCTCTCCTCCGCTCCCCTCCCCTCTCCTCCACTCCTCT CCCCTCTCCTCCACTCCTCTCCCCTCCCCTCCTCTCTCCTCCACTCCTCT CCCCTCCTCTCCTCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCACCCCT CCCCTCCCCTCCTTTCTCCTCCCCTCCCCACGGCTCCCCTCCCCTCCTTT CTCCTCCCTTGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0023 a0001c0001t0005g0023	1	318	0.0031	963	c.-49 others(974): Show c.-4994_-4993insCGGCAAGGGAGGAGAAAGGAGGGGAGGGGAGCCG TGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGAGGAG AGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGAGAGG AGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGAGGAGTGGAGGAGAGGGG AGGGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGG AAGGGAGGAGAGGAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAG GAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGGAGGGGAGCGGG AGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGG AGGAGAGGGGAGGGGAGCGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGG AAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGG AGGAGAGGGGAAGGGAGGGGAGAGGAGAGCGGAGGAGAGGGGAGGGGAGC GGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGA GGAGAGGGGAAGGGAGGGGAGAGGAGGGAGGAGAGGGGAAGGGAGGGGAG AGGAGTGGAGGAGAGGGGAGCGGAGCGGAGGAGAGAGGGGGAGGGGAGGA GAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAG GAGGGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGA GAGAGGAGGGGAGGGGAGAGGGGAGGAGAGAGGAGGGGAGGGGAGGAGAG AGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAG AGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGAGGAGGGGAG GGGAGGGGAGGACAGAGGAGGAGAGAGGA	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4802		chr11	TogoVar

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