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
PFKFB3_chr10_6197932_6240532	6206842	G G	GCAGCCAG others(941): Show GCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCA GAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCA CATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACT GGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGG CAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCT CACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGA CTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCA GGCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTC CTCACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCA GACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGC CAGGCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGC TCCTCACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTC CAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCG GCCAGGCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGG GCTCCTCACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTT TCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGG CGGCCAGGCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAG GGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCAC TTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAAT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	432	0.0023	948	c.76+ others(963): Show c.76+3506_76+3507insCAGCCAGGCAGAGGGGCTCCTCACATCCCA GACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACTGGGCAGC CAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCAGAGAC ACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCC CAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACTGGGCA GCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCAGAG ACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACAT CCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACTGGG CAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCAG AGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCAC ATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACTG GGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGC AGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTC ACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGAC TGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAG GCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCC TCACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAG ACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCC AGGCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCT CCTCACATCCCAGACAAT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14			chr10	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(941): Show TGGGGAGAGAAGGGGAGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGG GGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGGG GAGACAAGGGGGAGAGAAGGGAGGAGAGAGGGGGGAGAGAAGGGGAGGAG GGAGAGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGGGAGGGGGAG AGAGGGGGAGAGAGAAAGGAGAGGGGAGAGGGGGGAGAGAAGGGGAGAGA GGGGAGAGAAGGGGAGAGAGAAGGGGAGGGGGAGGAGGGGGAGGGGGAGA GGTGGAGGAGGGGGAGAGGGGGAGAGGGGGAGGAGGGGAGGAGGGGGGAG GAGGGGGAGAGGGGGAGGAGGGGGAGGAGGGGGAGGGGGTGGAGAGGGGG AGGAGGGGGAGAGGGGGAGGAGGGGGGAGGGGGGGGAGGGGGAGAGGGGG AGAGGGGGAGAGGGGGAGGGGGAGGAGGGGGAGAGGGGAGGAGGGGGAGA GGGGGAGGAGGGGAGAGGGGGAGAGGGGGAGAGGGGGAAGTGGGAAGGGG CAAGAGAGAGGGCGAGAGAGAGGCGGGTGAGAGAGGGCGAGTGAGAGAGA GAGGGCGAGTGAGAGAGAGAGGGCAGGGTGAGAGAGAGGGCTGAGAGAAA GGAGGGTGGGCAAGAGAGAGAGGGCGAGGGCGAGAGAGAGAGAGGGCGAG AGGAGAGAGGGCGGGCGAGAGAGAGGGCAGGCGAGAGAGAGGGCGGGTGA GAGAGAGAGAGGGTGGGCAAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGA GAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGT GAGAGGGCGAGAGGGAGAGAGAGGGAGAGGGCGAGAGGGAGAGGGAGAGA AAAGGGGAGAGAAAGAGGGAGAGAAAGAGGGAGAGAAAGAGGAGAGAAA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0001 a0005c0003t0001	a0005c0003t0001g0230 a0005c0003t0001g0230	1	308	0.0033	948	c.371 others(965): Show c.3718+654_3718+655insTTTCTCTCCTCTTTCTCTCCCTCTTTCT CTCCCTCTTTCTCTCCCCTTTTCTCTCCCTCTCCCTCTCGCCCTCTCCCT CTCTCTCCCTCTCGCCCTCTCACTCTCTCTCTTGCCCGCCCTCTCTCTCT CTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTCT CTTGCCCACCCTCTCTCTCTCTCACCCGCCCTCTCTCTCGCCTGCCCTCT CTCTCGCCCGCCCTCTCTCCTCTCGCCCTCTCTCTCTCTCGCCCTCGCCC TCTCTCTCTTGCCCACCCTCCTTTCTCTCAGCCCTCTCTCTCACCCTGCC CTCTCTCTCTCACTCGCCCTCTCTCTCTCACTCGCCCTCTCTCACCCGCC TCTCTCTCGCCCTCTCTCTTGCCCCTTCCCACTTCCCCCTCTCCCCCTCT CCCCCTCTCCCCTCCTCCCCCTCTCCCCCTCCTCCCCTCTCCCCCTCCTC CCCCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCCCCCCCCTCCCCCC TCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCACCCCCTCCCCCTCCTCCC CCTCCTCCCCCTCTCCCCCTCCTCCCCCCTCCTCCCCTCCTCCCCCTCTC CCCCTCTCCCCCTCCTCCACCTCTCCCCCTCCCCCTCCTCCCCCTCCCCT TCTCTCTCCCCTTCTCTCCCCTCTCTCCCCTTCTCTCCCCCCTCTCCCCT CTCCTTTCTCTCTCCCCCTCTCTCCCCCTCCCCTCTCTCCCCCTCTCCCC CTCCCCTTCTCTCCCCTCTCCCTCCTCCCCTTCTCTCCCCCCTCTCTCCT CCCTTCTCTCCCCCTTGTCTCCCCCCTCCCCTTCTCTCCCCCTCTCCCAC TCTCTCCCTCCCCTTCTCTCCCCATCCCCTTCTCTCCCCATCCCCTTCTC TCCCCTCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PRKCZ_chr1_2045411_2190395	2124192	T T	TGTAGTTA others(941): Show TGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGG TGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATC ATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGG GGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAG TTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTG GTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCAAGGT GGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCA TGGCTGTAGTTAGGGTCAAGGTGGTAGTTAGGATCATGGCTGTAGTTAGG GTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGT TAGGATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTG TAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGAT CACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTA GGGTCAAGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTA GTTAGGATCACGGCTGTAGTTAGGGTCAAGGTGGTAGTTAGGATCATGGC TGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCA TGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG ATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGT TGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0141 a0001c0003t0001g0141	1	286	0.0035	948	c.335 others(967): Show c.335-11057_335-11056insTGGTGGTAGTTAGGGTCGTGGTGGTT AGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGG CTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTA GGGTCAAGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGATCATGGCTGTAGTTAGGGTCAAGGTGGTAGTTAGGATCATGGC TGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCA TGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG ATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCACG GCTGTAGTTAGGGTCAAGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGT CATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCAAGGTGGTAGTTA GGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTA GTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGT GGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCA CGGCTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGG GTCATGGTGGTAGTTAGGGTCA	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAB11FIP3_chr16_420649_528011	492360	T T	TCCTCCCG others(941): Show TCCTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCCGGGAGACCCGAG GCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCA GGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACC CGAGGCCGCCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGGAGACCCGAGGCC GCCCAGAGCCCTTCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCCGGGA GACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGG CCCTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGG CCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGG AGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGAGACCCGA GGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCC GGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCA GAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCC GAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTC CCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGC CCAGGGCCCTTCCCGGGAGACGCGAGGCCGCCCAGAGCCCTCCCGGGAGA CCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0254 a0001c0002t0009g0254	1	295	0.0034	948	c.126 others(967): Show c.1265+3361_1265+3362insCTCCCGGGAGACCCGAGGCCGTCCAG AGCCCTCCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGTCCAGGGCC CTTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTTCCGGGAGACCCGAGG CCGTCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCAG AGCCCTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGA GGCCGCCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCC GAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTC CCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCC CAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCC TTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACGCGAGGC CGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGA GACCCGAGGCCGCCCAGAGCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RABL6_chr9_136802948_136846187	136803280	G G	GCCGGGGG others(941): Show GCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGG GGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCGGCCCTCTTGGATCTTCGG ATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG03225.hp1 HG02647.hp2 HG03225.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0001 a0001c0006t0001g0023 a0001c0006t0001g0001 a0001c0006t0001g0023	2	330	0.0061	948	c.-49 others(959): Show c.-4917_-4916insCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCGGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGG GGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4667		chr9	TogoVar
RGN_chrX_47073443_47098313	47089400	A A	AATATATT others(941): Show AATATATTTATATTATATAATTATAATATTAATATAATATATTTATATTA TATAATTATAATATTAATATAATATATTTATATTATATAATTATAATTAT ATAATATATTTATATTATATAAATATAATATAATTATATAATATATTTAT ATTATATAAATATAATATAATTATATAATATAATTATATTATATAAATAT AATATAATTATATAATTATATAATATAATTATATTATATAAATATAATAA TATAATATAATTATATAAATATAATAATATAATATAATAATATAATATAA TATAATTATATTTTTATATAATATAATTATATTATATAATTATATAATAT AAATATAATTATATTATGTAATTATATAATATAATATAATTATATTATAT TATATAATTACATAATATAATATAATTATATTATATAATTATATAATATA ATTATATTATATAATTATATAATATAATATAATATAATTATATTATATAA TTATATAATAAATATAATATAATTATATTATATAATTATATTATAAATAT AATATAATTATATTATATAATTATATTATAAATATAATATAATTATATTA TATAATTATATAATAAATATAATATAATTATATTATATAATTATATAATA AATATAATATAATTATATTATATAATTATATAATAAATATAATATAATTA TATTATATAATTATATAATAATATAATATAATTATATTATTAATTATATA ATAAATATAATATAATTATATTATATAATTATATAATAAATAATATAATT ATATTATATAATTATATAATAAATATAATATAATTATATTATATAATATG ATATAATATAATATAATATAATATAATATAATATAATTATATTATATAAT TATATAATATAATATAATTATATTATATTATATGATTATATATAATTAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0299 a0001c0001t0003g0299	1	304	0.0033	948	c.347 others(963): Show c.347-370_347-369insTTATATTATATAATTATAATATTAATATAA TATATTTATATTATATAATTATAATATTAATATAATATATTTATATTATA TAATTATAATTATATAATATATTTATATTATATAAATATAATATAATTAT ATAATATATTTATATTATATAAATATAATATAATTATATAATATAATTAT ATTATATAAATATAATATAATTATATAATTATATAATATAATTATATTAT ATAAATATAATAATATAATATAATTATATAAATATAATAATATAATATAA TAATATAATATAATATAATTATATTTTTATATAATATAATTATATTATAT AATTATATAATATAAATATAATTATATTATGTAATTATATAATATAATAT AATTATATTATATTATATAATTACATAATATAATATAATTATATTATATA ATTATATAATATAATTATATTATATAATTATATAATATAATATAATATAA TTATATTATATAATTATATAATAAATATAATATAATTATATTATATAATT ATATTATAAATATAATATAATTATATTATATAATTATATTATAAATATAA TATAATTATATTATATAATTATATAATAAATATAATATAATTATATTATA TAATTATATAATAAATATAATATAATTATATTATATAATTATATAATAAA TATAATATAATTATATTATATAATTATATAATAATATAATATAATTATAT TATTAATTATATAATAAATATAATATAATTATATTATATAATTATATAAT AAATAATATAATTATATTATATAATTATATAATAAATATAATATAATTAT ATTATATAATATGATATAATATAATATAATATAATATAATATAATATAAT TATATTATATAATTATATAATATAATATAATTATATTATATTATATGATT ATATATAATTACATATAT	RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding	4/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
RIMBP2_chr12_130391133_130721299	130646443	C C	CCACCTCC others(941): Show CCACCTCCCTCACCACCTCCCTCTCCACCTCCCTCTCCACCTCCCTCACC ACCTCCCTCACCACCTCCCTCTCCACCTACCTCACCACCTCCCTCTCCAC CTCCCTCACCACCTCCCTCTCCACCTCCCTCACCACCTCCCTCACCACCT CCCTCTCCACCTCCCTCACCACCTCCCTCTCCACCTCCCTCACCACCTCC CTCACCACCTCCCTCTCCACCTCCCTCACCACCTCCCTCACCACCTCCCT CTCCACCTCCCTCACCACCTCCCTCTCCACCTCCCTCTCCACCTCCCTCT CCACCTCCCTCTCCACCTCCCTCGCCACCTCCCTCACCACCTCCCTCTCC ACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACCTCCCTCATCAC CTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCT CCCTCACCACCTCCCTCTCCACCTCCCTCTCCACCTCCCTCTCCACCTCC CTCTCCACCTCCCTCACCACCTCCCTCTCCACCTCCCTCTCCACCTCCCT CTCCACCTCCCTCACCACTTCCCTCTCCACCTCCCTCACCACCTCCCTCT CCACCTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCTCCCTCACC ACTTCCCTCTCCACCTCCCTCACCACCTCCCTCTCCACCTCCCTCTCCAC CTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCTCCCTCACCACCT GCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTCCCTCACCACCTGC CTCTCCACCTCCCTCACCACCTCCCTCACCACCTCCCTCGCCACCTCCCT CACCACCTCCCTCACCACTTCCCTCACCACCTCCCTCACCACCTCCCTCA CCACCTCCCTCGCCACCTCCCTCGCCACCTCCCTCGCCACCTCCCTCAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0174 a0002c0009t0001g0174	1	180	0.0056	948	c.-35 others(969): Show c.-351-17988_-351-17987insATGAGGGAGGTGGCGAGGGAGGTG GCGAGGGAGGTGGCGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGT GAGGGAAGTGGTGAGGGAGGTGGTGAGGGAGGTGGCGAGGGAGGTGGTGA GGGAGGTGGTGAGGGAGGTGGAGAGGCAGGTGGTGAGGGAGGTGGAGAGG GAAGTGGTGAGGGAGGTGGAGAGGCAGGTGGTGAGGGAGGTGGTGAGGGA GGTGGAGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAGG TGGTGAGGGAGGTGGAGAGGGAAGTGGTGAGGGAGGTGGTGAGGGAGGTG GAGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGA GAGGGAAGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAGGTGGAGA GGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAGGTGGAGAGG GAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAAGTGGTGAGGGA GGTGGAGAGGGAGGTGGAGAGGGAGGTGATGAGGGAGGTGGTGAGGGAGG TGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTG GCGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAGGTGGA GAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGTGA GGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGG GAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGTGAGGGA GGTGGAGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGTGAGGTAGG TGGAGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTG GAGAGGGAGGTGGTGAGGGAGGTG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RPH3AL_chr17_207389_357807	242899	C C	TTACCTTC others(941): Show TTACCTTCCTCTATTGATTACCCTTCCTCTATTGACTACCTTCCTCTATT GACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTAT TGACTACCTTCCTCTATTGATTACCTTCCTCTATTGATTACCTTCCTCTA TTGATTACCCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTC TATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCT CTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTATTGATTACCCTT CCTCTATTGACTACCTTCCTCTATTGATTACCTTCCTCTATTGATTACCT TCCTCTATTGATTACCCTTCCTCTATTGATTACCTTCCTCTATTGATTAC CCTTCCTCTATTGATTACCCTTCCTCTATTGACTACCTTCCTCTATTGAT TACCTTCCTCTATTGAATACCTTCCTCTATTGATTACCCTTCCTCTATTG ACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATT GACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTAT TGATTACCTTCCTCTATTGATTACCCTTCCTCTATTGATTACCTTCCTCT ATTGATTACCCTTCCTCTATTGATTACCTTCCTCTATTGATTACCCTTCC TCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTC CTCTATTGATTACCTTCCTCTATTGATTACCTTCCTCTATTGACTACCTT CCTCTATTGATTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCT TCCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTATTGATTAC CTTCCTCTATTGATTACCCTTCCTTTATTGACTACCTTCCTCTATTGAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0118 a0001c0001t0027g0118	1	133	0.0075	948	c.613 others(965): Show c.613+4212_613+4213insTCAATAGAGGAAGGTAGTCAATAAAGGA AGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGGTAATCAATAGA GGAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAG AGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAATCAATA GAGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAAT AGAGGAAGGTAGTCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCA ATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGGTAA TCAATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGTA GTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGT AGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGGTAATCAATAGAGGAAG GTATTCAATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAA GGGTAATCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCAATAGAG GAAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGTAATCAATAG AGGAAGGTAGTCAATAGAGGAAGGGTAATCAATAGAGGAAGGGTAATCAA TAGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCA ATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTC AATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGTAA TCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTA GTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGG TAATCAATAGAGGAAGGTAA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPS21_chr20_62382103_62393520	62382278	G G	GTGATGGT others(941): Show GTGATGGTGATATTGATGATGTGATGATGATGGTGGTGGTGGTGGCGATG GTGATGATGGTATTGACGATGATGATGACGGTGGTGATGGTGGTGGTGAT GGTGATGATGGTGGTGGTGGTGATGGTGGTGATGATGGTGGTGGTGATGG TGATGGTGACGATGGTGGTGATGGTGGTGGTGGTGATGGTGACGATGGTG GTGATGGTGGTGGTGGTGATGGTGGTGATGATGGTGATGGTGGTGATGGT GATGCTGATGGTGGTGGTGATGATGGTGATGGTGAGGATGGTGGTGACGG TGGTCATGATGGTGATGATGGTGGTGATGATGATGGTGATGGTGGTGGTG ATGATGGTGATGGTAGTGATGATGGAGGTGACGGTGATGGTGATAGTGAT GGTGGTGATGATGGTGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGA TGCTGGTGGTGATGGTGATGGTGGTGGTGATGGTGATGATGATGGTGATG GTGGTGATGATGATGGTGATGGTAGTGATGATGGTGGTGATGGTGATGAT GGTGATGGTAGTGATGATGGTGGTGGTGGTGATGGTGGTCATGATGGTGA TGGTGGTGATGGTGGTGACGGTGGTGGTGGTGATGGTGACGGTGGTCATG GTGGTGGTGATGGTGATGGTGGTGATGGTGGTGGTGATGGTGATGATGAT GGTGGCAATGGTGATGATGTGATGATGGTGGTGGTGATGATAGTGATGGC GATGATGTGATGATGGTGGTGGTGGTGGTGATGGCGATGGTGATGATGGT GGTGATGATAGTGATGGCGATGATGTGATGATGGTGGTGGTGATGATAGT GATGGCGATGATGTGATGGTGGTGGTGATAGTGATGGCGATGATGTGATG ATGGTGGTGGTGGTGATGATAGTGATGGCGATGGTGATGGTGGTGGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	412	0.0024	948	c.-48 others(959): Show c.-4877_-4876insTGATGGTGATATTGATGATGTGATGATGATGGTG GTGGTGGTGGCGATGGTGATGATGGTATTGACGATGATGATGACGGTGGT GATGGTGGTGGTGATGGTGATGATGGTGGTGGTGGTGATGGTGGTGATGA TGGTGGTGGTGATGGTGATGGTGACGATGGTGGTGATGGTGGTGGTGGTG ATGGTGACGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGATGGT GATGGTGGTGATGGTGATGCTGATGGTGGTGGTGATGATGGTGATGGTGA GGATGGTGGTGACGGTGGTCATGATGGTGATGATGGTGGTGATGATGATG GTGATGGTGGTGGTGATGATGGTGATGGTAGTGATGATGGAGGTGACGGT GATGGTGATAGTGATGGTGGTGATGATGGTGGTGGTGGTGGTGATGGTGA TGGTGGTGATGGTGATGCTGGTGGTGATGGTGATGGTGGTGGTGATGGTG ATGATGATGGTGATGGTGGTGATGATGATGGTGATGGTAGTGATGATGGT GGTGATGGTGATGATGGTGATGGTAGTGATGATGGTGGTGGTGGTGATGG TGGTCATGATGGTGATGGTGGTGATGGTGGTGACGGTGGTGGTGGTGATG GTGACGGTGGTCATGGTGGTGGTGATGGTGATGGTGGTGATGGTGGTGGT GATGGTGATGATGATGGTGGCAATGGTGATGATGTGATGATGGTGGTGGT GATGATAGTGATGGCGATGATGTGATGATGGTGGTGGTGGTGGTGATGGC GATGGTGATGATGGTGGTGATGATAGTGATGGCGATGATGTGATGATGGT GGTGGTGATGATAGTGATGGCGATGATGTGATGGTGGTGGTGATAGTGAT GGCGATGATGTGATGATGGTGGTGGTGGTGATGATAGTGATGGCGATGGT GATGGTGGTGGTGA	RPS21	ENSG00000171858.18	transcript	ENST00000343986.9	protein_coding		4824		chr20	TogoVar
RPS21_chr20_62382103_62393520	62382278	G G	GTGATGGT others(941): Show GTGATGGTGATATTGATGATGTGATGATGATGGTGGTGGTGGTGGCGATG GTGATGATGGTATTGACGATGATGATGACGGTGGTGATGGTGGTGGTGAT GGTGATGGTGATGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGATGG TGGTGATGGTGGTGGTGATGGTGGTGATGATGGTGATGCTGATGGTGGTG GTGATGATGGTGATGGTGAGGATGGTGGTGATGGTGGTCATGATGGTGAT GATGATGGTGGTGATGATGATGGTGATGGTGGTGGTGATGATGGTGATGG TAGTGATGATGGAGGTGACGGTGATGGTGATAGTGATGGTGGTGATGATG GTGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGATGCTGGTGGTGAT GGTGATGGTGGTGGTGATGGTGATGATGATGGTGATGGTGATGGTGATGA TGATGGTGATGGTGGTGATGATGATGGTGATGGTAGTGATGATGGTGGTG ATGGTGATGATGGTGATGGTAGTGATGGTGGTGGTGGTGATGGTGGTCAT GATGGTGATGGTGGTGATGGTGGTGACGGTGGTGGTGGTGATGGTGACGG TGGTCATGGTGGTGGTGATGGTGGTGGTGGTGATGGTGATGATGATGGTG ATGGTGGTGGTGGTGATGGTGATGGTGGTGATGACGGTGGTGATGGTGAT GGTGGCAATGGTGATGATGTGATGATGGTGGTGGTGATGATAGTGATGGC GATGATGTGATGGTGGTGGTGGTGGTGATGGCGATGGTGATGATGGTGGT GATGATAGTGATGGCGATGATGTGATGATGGTGGTGGTGATGATAGTGAT GGCGATGATGTGATGGTGGTGGTGATAGTGATGGCGATGATGTGATGATG GTGGTGGTGGTGATGATAGTGATGGCGATGGTGATGATGGTGGTGGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	412	0.0024	948	c.-48 others(959): Show c.-4877_-4876insTGATGGTGATATTGATGATGTGATGATGATGGTG GTGGTGGTGGCGATGGTGATGATGGTATTGACGATGATGATGACGGTGGT GATGGTGGTGGTGATGGTGATGGTGATGATGGTGGTGGTGGTGATGGTGA TGGTGGTGATGATGGTGGTGATGGTGGTGGTGATGGTGGTGATGATGGTG ATGCTGATGGTGGTGGTGATGATGGTGATGGTGAGGATGGTGGTGATGGT GGTCATGATGGTGATGATGATGGTGGTGATGATGATGGTGATGGTGGTGG TGATGATGGTGATGGTAGTGATGATGGAGGTGACGGTGATGGTGATAGTG ATGGTGGTGATGATGGTGGTGGTGGTGGTGATGGTGATGGTGGTGATGGT GATGCTGGTGGTGATGGTGATGGTGGTGGTGATGGTGATGATGATGGTGA TGGTGATGGTGATGATGATGGTGATGGTGGTGATGATGATGGTGATGGTA GTGATGATGGTGGTGATGGTGATGATGGTGATGGTAGTGATGGTGGTGGT GGTGATGGTGGTCATGATGGTGATGGTGGTGATGGTGGTGACGGTGGTGG TGGTGATGGTGACGGTGGTCATGGTGGTGGTGATGGTGGTGGTGGTGATG GTGATGATGATGGTGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGAC GGTGGTGATGGTGATGGTGGCAATGGTGATGATGTGATGATGGTGGTGGT GATGATAGTGATGGCGATGATGTGATGGTGGTGGTGGTGGTGATGGCGAT GGTGATGATGGTGGTGATGATAGTGATGGCGATGATGTGATGATGGTGGT GGTGATGATAGTGATGGCGATGATGTGATGGTGGTGGTGATAGTGATGGC GATGATGTGATGATGGTGGTGGTGGTGATGATAGTGATGGCGATGGTGAT GATGGTGGTGGTGA	RPS21	ENSG00000171858.18	transcript	ENST00000343986.9	protein_coding		4824		chr20	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(941): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGT CCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCACCCACCCATCCATCCATCCATCC ATCCGTCCGTCCATCCATCCACCCATCCACCCATCCACCCACCCACCTAC CCACCCACACACCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ACTCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCGT CCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCAACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCACCCACCCACCCATCCATCCATCCATCC ATCCGTCCGTCCATCCATCCACCCATCCACCCATCCACCCACCCACCTAC CCACCCACACACCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ACTCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCGT CCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCAACCC ATCCACCCACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATTCATCCATCCATCCATCCATCTACCCATCCACCCACCC ACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCACCCACCCATCCATCCATCCATCCACCCACCCACCCACCCACCCACC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0320 a0001c0007t0003g0320	1	378	0.0027	948	c.937 others(965): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGT CCGTCCATCCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCC ACACACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCAT CCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCAACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCACCCACCCACCCATCCATCCATCCATCCATCCGT CCGTCCATCCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCC ACACACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCAT CCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCAACCCATCCAC CCACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATTCATCCATCCATCCATCCATCTACCCATCCACCCACCCACCCAC ACACCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCC ACCCATCCATCCATCCATCCACCCACCCACCCACCCACCCACCCATCCAT CCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SLC44A5_chr1_75197129_75616114	75280137	T T	TATATATA others(941): Show TATATATATATTGTATATCTAATATATATTATATATATTTTATATTGTAT ATATAATATATAGTATATATTTTATGTTGTATATATAATATATATACTAT ATATTATATATTGTATATAATATACATAGTATATATTATATATTGTATAT AATATACATAGCATATATTATATATTGTATATAATATACATAGCATATAT TATATATTGTATATAATATATATAGCATATATTATATATTGTATATAATA TATAGCATATATTATATATTGTATATAATATATATAGCATATATTATATA TTGTATATAATATATATAGCATATATTATATATTGTATATAATATATATT GTATATATAATATATATATTGTATATAATATATATTGTATATATAATATA TATATTGTATATATTATATATTGTATATATAATATATATATTGTATATAT TATATATTGTATATATAATATATATATTGTATATATAATATATATATTGT ATATATTATATATTGTATATATAATATATATTGTATATGTTATATATTGT ATATATAATATATAGTATATGTTATATATTGTATATATAATATATAGTAT ATGTTATATATTGTATATATAATATATAGTATATGTTATATATTGTATAT ATAATATATAGTATATGTTATATATTGTATATATAATATATAGTATATGT TATATATTGTATATATAATATATATTGTATATATAATATATATTGTATAT ATTATATATTGTATATATAATATATATATTGTATATATTATATATTGTAT ATATAATATATATATTGTATATATTATATATTGTATATATAATATATATA TTGTATATATTATATATTGTATATATAATATATATATTGTATATATTATA TATTGTATATATAATATATATATTGTATATATTATATATTGTATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0134 a0001c0002t0002g0134	1	156	0.0064	948	c.176 others(965): Show c.176-5096_176-5095insTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATAATA TATACAATATATATATTATATATACAATATATAATATATACAATATATAT ATTATATATACAATATATAATATATACAATATATATTATATATACAATAT ATATTATATATACAATATATAACATATACTATATATTATATATACAATAT ATAACATATACTATATATTATATATACAATATATAACATATACTATATAT TATATATACAATATATAACATATACTATATATTATATATACAATATATAA CATATACTATATATTATATATACAATATATAACATATACAATATATATTA TATATACAATATATAATATATACAATATATATATTATATATACAATATAT ATATTATATATACAATATATAATATATACAATATATATATTATATATACA ATATATAATATATACAATATATATATTATATATACAATATATATTATATA CAATATATATATTATATATACAATATATATTATATACAATATATAATATA TGCTATATATATTATATACAATATATAATATATGCTATATATATTATATA CAATATATAATATATGCTATATATTATATACAATATATAATATATGCTAT ATATATTATATACAATATATAATATATGCTATGTATATTATATACAATAT ATAATATATGCTATGTATATTATATACAATATATAATATATACTATGTAT ATTATATACAATATATAATATATAGTATATATATTATATATACAACATAA AATATATACTATATATTATATATACAATATAAAATATATATAATATATAT TAGATATACAATATATATAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SLC6A12_chr12_185081_219157	197174	C C	CATCCATC others(941): Show CATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCTATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCTA TCCATCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATCCATC TATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCATCCA TCCATCCATCTACCCATCCATCCATCCATCCATCCATCCATCCATCCATC TATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCTACCCATC CATCCATCCATCTACCCATCCATCCATCCATCCATCCATCTATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATC TACCCATCCATCCATCCATCTATCCATCCATCCATCCATCTACCCATCCA TCCATCCATCTATCCATCCATCCATCCATCCATCCATCTATCCATCTATC CATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCTA CCCATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATC CATCCATCCATCCATCCATCTATCCATCCATCCATCTACCCATCCATCCA TCCATCTACCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCA TCCATCTATCCATCCATCCATCCATCCATCCATCCATCTATCCATCTATC CATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0010 a0002c0002t0002g0010	2	420	0.0048	948	c.107 others(965): Show c.1075+202_1075+203insAGATGGATGGATAGATGGATGGATAGAT GGATGGATGGATGGATGGATGGATAGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGG ATGGATGGATGGGTAGATGGATGGATGGATGGGTAGATGGATGGATGGAT AGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGG ATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATAGAT GGATGGATAGATGGATGGATGGATAGATGGATAGATGGATGGATGGATGG ATGGATGGATAGATGGATGGATGGATGGGTAGATGGATGGATGGATGGAT AGATGGATGGATGGATGGGTAGATGGATGGATGGATGGGTAGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGAT GGATGGGTAGATGGATGGATGGATGGGTAGATGGATGGATGGATAGATGG ATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATAGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGGTAGATGGATGGATGGATGGGTAGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATAGATGGATGGATGGATAGATGGATGGATGG ATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGATAGAT GGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATAGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197174	C C	CATCTATC others(941): Show CATCTATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCTATC CATCTATCCATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCA TCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCTATC CATCCATCCATCCATCCATCTATCCATCCATCCATCCATCTACCCATCCA TCCATCTACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC TACCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCA TCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCATC CATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCA TCTACCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATC CATCCATCCATCCATCCACCCATCCATCCATCCATCTACCCATCCATCCA TCCATCTATCCATCCATCCATCCATCCATCCATCTATCCATCTATCCATC CATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCTACCCA TCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATC CATCCATCCATCCATCTATCCATCCATCCATCTACCCATCCATCCATCCA TCTACCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCA TCTATCCATCCATCCATCCATCCATCCATCCATCTATCCATCTATCCATC CATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0310 a0001c0001t0002g0310	1	420	0.0024	948	c.107 others(965): Show c.1075+202_1075+203insAGATGGATGGATAGATGGATGGATAGAT GGATGGATGGATGGATGGATGGATGGATAGATGGATAGATGGATGGATGG ATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGG ATGGATGGATGGATGGGTAGATGGATGGATGGATGGGTAGATGGATGGAT GGATAGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGG ATAGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGAT AGATGGATGGATAGATGGATGGATGGATAGATGGATAGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGGTAGATGGATGGATGGAT GGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGG ATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGGAT AGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATAGATGGAT GGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGGTAGATGGATGGATGGGTAGATGGATGGATGGATGGAT AGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATAG ATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGAT GGATGGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGG ATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGGTAGAT GGATGGATGGATGGATAGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197174	C C	CATCTATC others(941): Show CATCTATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCA TCTATCCATCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTA CCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCCATC CATCCATCTATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCTACC CATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCTATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATCCATC CATCTACCCATCCATCCATCCATCTATCCATCCATCCATCCATCTACCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATC TATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCA TCTACCCATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATC CATCCATCCATCCATCCATCCATCTATCCATCCATCCATCTACCCATCCA TCCATCCATCTACCCATCCATCCATCCATCCATCCATCTATCCATCCATC CATCCATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCA TCCATCTATCCATCCATCCATCCATCCATCCATCCATCTATCCATCTATC CATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0244 a0001c0001t0002g0244	1	420	0.0024	948	c.107 others(965): Show c.1075+202_1075+203insAGATGGATGGATAGATGGATGGATAGAT GGATGGATGGATGGATGGATGGATAGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGG ATGGATGGGTAGATGGATGGATGGATGGGTAGATGGATGGATGGATAGAT GGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGG ATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATAGATGGAT GGATAGATGGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATAGAT GGATGGATGGATGGGTAGATGGATGGATGGATGGGTAGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGAT GGGTAGATGGATGGATGGATGGGTAGATGGATGGATGGATAGATGGATGG ATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGAT GGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGG GTAGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATAGATGGATGGATGGATAGATGGATGGATGGATGG ATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGATAGATGGAT GGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATAGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATAGATGGATAGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197174	C C	CATCTATC others(941): Show CATCTATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCA TCTATCCATCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTA CCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCCATC CATCCATCTATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCTACC CATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCTATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATCCATC CATCTACCCATCCATCCATCCATCTATCCATCCATCCATCCATCTACCCA TCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCTATCCATC TATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCA TCTACCCATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATC CATCCATCCATCCATCCATCCATCTATCCATCCATCCATCTACCCATCCA TCCATCCATCTACCCATCCATCCATCCATCCATCCATCTATCCATCCATC CATCCATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCA TCCATCTATCCATCCATCCATCCATCCATCCATCCATCTATCCATCTATC CATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0099 a0002c0002t0001g0099	1	420	0.0024	948	c.107 others(965): Show c.1075+202_1075+203insAGATGGATGGATAGATGGATGGATAGAT GGATGGATGGATGGATGGATGGATAGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGG ATGGATGGGTAGATGGATGGATGGATGGGTAGATGGATGGATGGATAGAT GGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGG ATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATAGATGGAT GGATAGATGGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGG ATGGATAGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATAGAT GGATGGATGGATGGGTAGATGGATGGATGGATGGGTAGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGAT GGGTAGATGGATGGATGGATGGGTAGATGGATGGATGGATAGATGGATGG ATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGAT GGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGG GTAGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATAGATGGATGGATGGATAGATGGATGGATGGATGG ATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGATAGATGGAT GGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATAGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATAGATGGATAGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SMOC2_chr6_168436184_168672992	168614746	G G	GGCCTCTT others(941): Show GGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCATACTTACAGCCG GCACAGGGCCTCTTCACACCTACAGCCGGCACAGGGGGCCTCTTTACATC TACAGCCAGCACAGGGCCTCTTCATACCTACAGCCAGCACAGGGCCTCTT CATACCTACAGCCAGCACAGGGCCTCTTTATACCTACAGCCAGCACGGGG CCTCTTCACACCTACAGCCAGCACGGGGCCTCTTCACACCTACAGCCAGC ACGGGGCCTCTTCACACCTACAGCCAGCACGGGGCCTCTTCACACCTACA GCCAGCACGGGGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCA CACCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCCAGCACAGGGGG CCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCCAGC ACACGGCCTCTTCACACCTACAGCCAGCACAGGGTCTCTTCATCTTCATA CTTACAGCCGGCACAGGGCCTCTTTACATCTACAGCCAGCACAGGGCCTC TTCATACCTACAGCCAGCACAGGGGGCCTCTTCACACCTACAGCCAGCAC AGGGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCATACCTACA GCCAGCACAGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCATA CCTACAGCCAGCACAGGGGGCCTCTTCACACCTACAGCCAGCACAGGGGG CCTCTTCACACCTACAGCCAGCACAGGGTCTCTTCATACTTACAGCCGGC ACAGGGCCTCTTTACACCTACAGCCAGCACAGGGCCTCTTCATACCTACA GCCAGCACAGGGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCA CACCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCCAGCACATGGA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0062 a0001c0002t0013g0062	1	180	0.0056	948	c.907 others(965): Show c.907+6544_907+6545insTACTTACAGCCGGCACAGGGCCTCTTCA CACCTACAGCCGGCACAGGGGGCCTCTTTACATCTACAGCCAGCACAGGG CCTCTTCATACCTACAGCCAGCACAGGGCCTCTTCATACCTACAGCCAGC ACAGGGCCTCTTTATACCTACAGCCAGCACGGGGCCTCTTCACACCTACA GCCAGCACGGGGCCTCTTCACACCTACAGCCAGCACGGGGCCTCTTCACA CCTACAGCCAGCACGGGGCCTCTTCACACCTACAGCCAGCACGGGGCCTC TTCACACCTACAGCCAGCACAGGGGGCCTCTTCACACCTACAGCCAGCAC AGGGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCACACCTACA GCCAGCACAGGGCCTCTTCACACCTACAGCCAGCACACGGCCTCTTCACA CCTACAGCCAGCACAGGGTCTCTTCATCTTCATACTTACAGCCGGCACAG GGCCTCTTTACATCTACAGCCAGCACAGGGCCTCTTCATACCTACAGCCA GCACAGGGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACC TACAGCCAGCACAGGGGGCCTCTTCATACCTACAGCCAGCACAGGGCCTC TTCACACCTACAGCCAGCACAGGGCCTCTTCATACCTACAGCCAGCACAG GGGGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCACACCTACA GCCAGCACAGGGTCTCTTCATACTTACAGCCGGCACAGGGCCTCTTTACA CCTACAGCCAGCACAGGGCCTCTTCATACCTACAGCCAGCACAGGGGGCC TCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCCAGCAC AGGGCCTCTTCACACCTACAGCCAGCACATGGAGCCTCTTCACACCTACA GCCAGCACAGGGCCTCTTCA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168614746	G G	GGCCTCTT others(941): Show GGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCATACTTACAGCCG GCACAGGGCCTCTTCACACCTACAGCCGGCACAGGGGGCCTCTTTACATC TACAGCCAGCACAGGGCCTCTTCATACCTACAGCCAGCACAGGGCCTCTT CATACCTACAGCCAGCACAGGGCCTCTTTATACCTACAGCCAGCACGGGG CCTCTTCACACCTACAGCCAGCACGGGGCCTCTTCACACCTACAGCCAGC ATGGGGCCTCTTCACACCTACAGCCAGCACGGGGCCTCTTCACACCTACA GCCAGCACGGGGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCA CACCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCCAGCACAGGGGG CCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCCAGC ACACGGCCTCTTCACACCTACAGCCAGCACAGGGTCTCTTCATCTTCATA CTTACAGCCGGCACAGGGCCTCTTTACATCTACAGCCAGCACAGGGCCTC TTCATACCTACAGCCAGCACAGGGGGCCTCTTCACACCTACAGCCAGCAC AGGGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCATACCTACA GCCAGCACAGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCATA CCTACAGCCAGCACAGGGGGCCTCTTCACACCTACAGCCAGCACAGGGGG CCTCTTCACACCTACAGCCAGCACAGGGTCTCTTCATACTTACAGCCGGC ACAGGGCCTCTTTACATCTACAGCCAGCACAGGGCCTCTTCATACCTACA GCCAGCACAGGGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCA CACCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCCAGCACATGGA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03654.hp1 HG01261.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0085 a0001c0002t0002g0067 a0001c0001t0001g0085 a0001c0002t0002g0067	2	180	0.0111	948	c.907 others(965): Show c.907+6544_907+6545insTACTTACAGCCGGCACAGGGCCTCTTCA CACCTACAGCCGGCACAGGGGGCCTCTTTACATCTACAGCCAGCACAGGG CCTCTTCATACCTACAGCCAGCACAGGGCCTCTTCATACCTACAGCCAGC ACAGGGCCTCTTTATACCTACAGCCAGCACGGGGCCTCTTCACACCTACA GCCAGCACGGGGCCTCTTCACACCTACAGCCAGCATGGGGCCTCTTCACA CCTACAGCCAGCACGGGGCCTCTTCACACCTACAGCCAGCACGGGGCCTC TTCACACCTACAGCCAGCACAGGGGGCCTCTTCACACCTACAGCCAGCAC AGGGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCACACCTACA GCCAGCACAGGGCCTCTTCACACCTACAGCCAGCACACGGCCTCTTCACA CCTACAGCCAGCACAGGGTCTCTTCATCTTCATACTTACAGCCGGCACAG GGCCTCTTTACATCTACAGCCAGCACAGGGCCTCTTCATACCTACAGCCA GCACAGGGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACC TACAGCCAGCACAGGGGGCCTCTTCATACCTACAGCCAGCACAGGGCCTC TTCACACCTACAGCCAGCACAGGGCCTCTTCATACCTACAGCCAGCACAG GGGGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCACACCTACA GCCAGCACAGGGTCTCTTCATACTTACAGCCGGCACAGGGCCTCTTTACA TCTACAGCCAGCACAGGGCCTCTTCATACCTACAGCCAGCACAGGGGGCC TCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCCAGCAC AGGGCCTCTTCACACCTACAGCCAGCACATGGAGCCTCTTCACACCTACA GCCAGCACAGGGCCTCTTCA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168614746	G G	GGCCTCTT others(941): Show GGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCATACTTACAGCCG GCACAGGGCCTCTTCACACCTACAGCCGGCACAGGGGGCCTCTTTACATC TACAGCCGGCACAGGGCCTCTTCATACCTACAGCCAGCACAGGGCCTCTT CATACCTACAGCCAGCACAGGGCCTCTTTATACCTACAGCCAGCACGGGG CCTCTTCACACCTACAGCCAGCACGGGGCCTCTTCACACCTACAGCCAGC ATGGGGCCTCTTCACACCTACAGCCAGCACGGGGCCTCTTCACACCTACA GCCAGCACGGGGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCA CACCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCCAGCACAGGGGG CCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCCAGC ACACGGCCTCTTCACACCTACAGCCAGCACAGGGTCTCTTCATCTTCATA CTTACAGCCGGCACAGGGCCTCTTTACATCTACAGCCAGCACAGGGCCTC TTCATACCTACAGCCAGCACAGGGGGCCTCTTCACACCTACAGCCAGCAC AGGGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCATACCTACA GCCAGCACAGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCATA CCTACAGCCAGCACAGGGGGCCTCTTCACACCTACAGCCAGCACAGGGGG CCTCTTCACACCTACAGCCAGCACAGGGTCTCTTCATACTTACAGCCGGC ACAGGGCCTCTTTACATCTACAGCCAGCACAGGGCCTCTTCATACCTACA GCCAGCACAGGGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCA CACCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCCAGCACATGGA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02074.hp1 HG01081.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0147 a0001c0002t0002g0010 a0001c0001t0001g0147 a0001c0002t0002g0010	2	180	0.0111	948	c.907 others(965): Show c.907+6544_907+6545insTACTTACAGCCGGCACAGGGCCTCTTCA CACCTACAGCCGGCACAGGGGGCCTCTTTACATCTACAGCCGGCACAGGG CCTCTTCATACCTACAGCCAGCACAGGGCCTCTTCATACCTACAGCCAGC ACAGGGCCTCTTTATACCTACAGCCAGCACGGGGCCTCTTCACACCTACA GCCAGCACGGGGCCTCTTCACACCTACAGCCAGCATGGGGCCTCTTCACA CCTACAGCCAGCACGGGGCCTCTTCACACCTACAGCCAGCACGGGGCCTC TTCACACCTACAGCCAGCACAGGGGGCCTCTTCACACCTACAGCCAGCAC AGGGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCACACCTACA GCCAGCACAGGGCCTCTTCACACCTACAGCCAGCACACGGCCTCTTCACA CCTACAGCCAGCACAGGGTCTCTTCATCTTCATACTTACAGCCGGCACAG GGCCTCTTTACATCTACAGCCAGCACAGGGCCTCTTCATACCTACAGCCA GCACAGGGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACC TACAGCCAGCACAGGGGGCCTCTTCATACCTACAGCCAGCACAGGGCCTC TTCACACCTACAGCCAGCACAGGGCCTCTTCATACCTACAGCCAGCACAG GGGGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCACACCTACA GCCAGCACAGGGTCTCTTCATACTTACAGCCGGCACAGGGCCTCTTTACA TCTACAGCCAGCACAGGGCCTCTTCATACCTACAGCCAGCACAGGGGGCC TCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCCAGCAC AGGGCCTCTTCACACCTACAGCCAGCACATGGAGCCTCTTCACACCTACA GCCAGCACAGGGCCTCTTCA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SUFU_chr10_102498972_102638535	102637512	A A	ATATTATA others(941): Show ATATTATATATTATATAACTATATATTATATATAATATATATATTATATA TTATATAACTATATATTATATATAATATATATATTATATATTATATAACT ATATATTATATATAATATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATAACTATATATTATATATAATATAT ATATTATATATTATATAACTATATATTATATATAATATATTATATATTAT ATAACTATATATTATATATAATATATTATATATTATATAACTATATATTA TATATAATATATTATATATTATATAACTATATATTATATATAATATATAT ATTATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATAACTATATATTATATATAATATATATATTATATATTATATAACTAT ATATTATATATAATATATATATTATATATTATATAACTATATATTATATA TAATATATATATTATATATTATATAACTATATATTATATATAATATATAT ATTATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATAACTATATATTATATATAATATATATATTATATATTATATAACTAT ATATTATATATAATATATATATTATATATTATATAACTATATATTATATA TAATATATATATTATATATTATATAACTATATATTATATATAATATATAT ATTATATATTATATAACTATATATTATATATAATATATATATTTTATATT ATATAACTATATATAATATATAATATATATATTTTATATTATATAACTAT ATATTATATATAATATATAACTATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACTATATATTATATATAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	268	0.0037	948	c.73 others(959): Show c.7357_*7358insTATTATATATTATATAACTATATATTATATATAA TATATATATTATATATTATATAACTATATATTATATATAATATATATATT ATATATTATATAACTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTATATAACTATATA TTATATATAATATATATATTATATATTATATAACTATATATTATATATAA TATATTATATATTATATAACTATATATTATATATAATATATTATATATTA TATAACTATATATTATATATAATATATTATATATTATATAACTATATATT ATATATAATATATATATTATATATTATATAACTATATATTATATATAATA TATATATTATATATTATATAACTATATATTATATATAATATATATATTAT ATATTATATAACTATATATTATATATAATATATATATTATATATTATATA ACTATATATTATATATAATATATATATTATATATTATATAACTATATATT ATATATAATATATATATTATATATTATATAACTATATATTATATATAATA TATATATTATATATTATATAACTATATATTATATATAATATATATATTAT ATATTATATAACTATATATTATATATAATATATATATTATATATTATATA ACTATATATTATATATAATATATATATTATATATTATATAACTATATATT ATATATAATATATATATTATATATTATATAACTATATATTATATATAATA TATATATTTTATATTATATAACTATATATAATATATAATATATATATTTT ATATTATATAACTATATATTATATATAATATATAACTATATATTATATAA CTATATATTATATATAATATATATATTATATATTATATAACTATATATTA TATATAATATATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3978		chr10	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(941): Show ACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCTACCC CCCCACCATCCCCCATCCTATCCACCCCCCACCATCTCCCATCCTATCCA CCCCCCCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCA TCCTATCCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATCC ATCCTATCCACCCACCCACCCACCATCCACCATCCTATCCACCCACCCAT CATCCACTATCCATCCACCACCCCCACACCCATCCTATCCACCCACCCAT CATCCACCATCCACTCACCCTCCATCCACTATCCATCCACCCACCCGCCA TCCACCCACCATCCCCCATCCACCTACTCACCCACCCGTTCTATACATCT ACCTACCCATTCTGTCTGTCCACCCACCCATCATATCCATCCACCCACCT ACCCATCCATCCTATCCATCCACCCATCCACCCACCGTATCTATCCACCC ACCCACACTGTCCATCCACCCACCCACCCATCCACCCACCCACCTATCCT ATTCATCCATCCACCCACCCACCCTATCTATCCACCCACCCACCCACACT ATCCATCCACCCACCCAACCACCCATCCTATTCATCCATCCATCCACCCA CCCAGTCTATCCACCCACCCACCTATCCTATTCATCCATCCCCCCACCCA CCCTATCTATCCACCCACCCACACACCCACACTATCCACCCACCCACACA CCCTATCTACCCACCCAATATATCCACCCACCCACCTACACCATCCACCC ACCCACCCTATCTATCCACCCACCCACACTATCCATCCACCCACCTATCC TATTCATCCATCCATCCACCTACCCAGCCAATTTATCCACCCACCCACCT ACCCTATCTATCCACCCATCCACCTATCCTATTCATCCATCCACCCACC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	258	0.0039	948	c.113 others(967): Show c.113-25872_113-25871insCATCCCCCATCGTATCCACCCACCCA CCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTATCCACCCC CCACCATCTCCCATCCTATCCACCCCCCCCACCCACCATCCCCCATCCTA TCCACCCACCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCCAT CCTATCCACCCCCCCCACATCCATCCTATCCACCCACCCACCCACCATCC ACCATCCTATCCACCCACCCATCATCCACTATCCATCCACCACCCCCACA CCCATCCTATCCACCCACCCATCATCCACCATCCACTCACCCTCCATCCA CTATCCATCCACCCACCCGCCATCCACCCACCATCCCCCATCCACCTACT CACCCACCCGTTCTATACATCTACCTACCCATTCTGTCTGTCCACCCACC CATCATATCCATCCACCCACCTACCCATCCATCCTATCCATCCACCCATC CACCCACCGTATCTATCCACCCACCCACACTGTCCATCCACCCACCCACC CATCCACCCACCCACCTATCCTATTCATCCATCCACCCACCCACCCTATC TATCCACCCACCCACCCACACTATCCATCCACCCACCCAACCACCCATCC TATTCATCCATCCATCCACCCACCCAGTCTATCCACCCACCCACCTATCC TATTCATCCATCCCCCCACCCACCCTATCTATCCACCCACCCACACACCC ACACTATCCACCCACCCACACACCCTATCTACCCACCCAATATATCCACC CACCCACCTACACCATCCACCCACCCACCCTATCTATCCACCCACCCACA CTATCCATCCACCCACCTATCCTATTCATCCATCCATCCACCTACCCAGC CAATTTATCCACCCACCCACCTACCCTATCTATCCACCCATCCACCTATC CTATTCATCCATCCACCCACCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBCD_chr17_82747065_82950914	82764853	C C	CTGTGTGC others(941): Show CTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGC TCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTC TGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTC TTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGC TTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGT GTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGCTCAT AGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCT TTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTAC AAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGC GGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGC TCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTC TGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTC TTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGC TTGCGGGTGTCTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCT GTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTC ATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCATAGTCTGCT TTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTAC AAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGC GGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0239 a0001c0002t0001g0239	1	318	0.0031	948	c.333 others(963): Show c.333+795_333+796insTGCTCATAGTCTGCTTTTCTTACAAGCTTG CGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTC TGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCT CATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCT GCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCT TACAAGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTG CGGGTGTCTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTG TGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATA GTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTT TTCTTACAAGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAG CTTGCGGGTGTCTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTC TGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCT CATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCT GCTTTTCTTACAAGCTTGCGGGTGTCTGCTCATAGTCTGCTTTTCTTACA AGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCG GGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTG TGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATA GTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTT TTCTTACAAGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAG CTTGCGGGTGTCTGTGTG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	3/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TMPRSS2_chr21_41459305_41513158	41474830	A A	AGTAAGGA others(941): Show AGTAAGGAGGTGAGGGGGTGAGTGAGGGGGTGGGTGAGGGGTGGGTGAGG GGATGAGGGAGTGATTCAGAGGGTGAAGGGGTGAGTGAGGGAGTGAAGGC ATGATTGAGGGGGTGAAGGGGTGAGTGAGGGGGTGACTGAGGGGTGAAGG GGGGAGTGAGGAGGAGAGTGAGGGGGTGAAGGCATGAGTGAGGGGGTGAA TGGGTGAGAGACGGGGTGAGTGAGGGGTGAAGGGATGAATGAGGGGGTAA GTAAGGGGTTGAGGGGGTGAGGGGGTGAGTGAGGAGGTGAAGGGTGAGTG AGGGCGTGAGGGGGGTGAGGGAGTGAGGGATTAGTGAGGGGGTGAGGGGT TGAGTGAGGAGGTGAGCAGGTGGGTGAGTGGATGAAGGGGTGAGTGAGGG GGTGAGGGGTGAATGAGGGGTTGAGTAGGGGGTGAGTGAGGAGGTGAGGT GGTGAGTGAGGGGGTGAAGGGTGAGTGAGGGGGTGAGGAGGTGAGTGAGG GGGTGACGGGGTGGGGTGAGGGAGGGATGAGGGGGAGAGTGAGGAGGTGA GGAGGTGAGTGAGGGTTGAGGGAGTGAGGGGGTGAGTGAGGGGGCGAAGG GGGTGAGTGAGGGGGTGAGGGGGTGAAGGCGTGAGTGAGGGGGTAAGGGG ATGAGTGAGGGGGTGAGGGGGTGAGGGGTGAGTGAGGGGGCGAGGGGGTG AGTGAGGGGGCGAGGGGGTGAGTGAGGGGGCGAGGGGGTGAGTGAGGAGG TGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTG AGTGAGGAGGTGAGGGGGTGACTGAGGAGGTGAGGGGGTGAGTGAGGGGG TGAGGGGTGAGTGAGGGGGTGAGGGGGTGAGTGAGGAGGTGAGCGGGTGA GTGAGGGGGGTGAGGGGGTGAGTGAGGAGGTGAGCGGGTGAGTGAGGAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0336 a0001c0022t0001g0336	1	382	0.0026	948	c.728 others(965): Show c.728-1335_728-1334insCTCCTCACTCACCCGCTCACCTCCTCAC TCACCCCCTCACCCCCCTCACTCACCCGCTCACCTCCTCACTCACCCCCT CACCCCCTCACTCACCCCTCACCCCCTCACTCACCCCCTCACCTCCTCAG TCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTC ACCTCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCGCCCCCTCAC TCACCCCCTCGCCCCCTCACTCACCCCCTCGCCCCCTCACTCACCCCTCA CCCCCTCACCCCCTCACTCATCCCCTTACCCCCTCACTCACGCCTTCACC CCCTCACCCCCTCACTCACCCCCTTCGCCCCCTCACTCACCCCCTCACTC CCTCAACCCTCACTCACCTCCTCACCTCCTCACTCTCCCCCTCATCCCTC CCTCACCCCACCCCGTCACCCCCTCACTCACCTCCTCACCCCCTCACTCA CCCTTCACCCCCTCACTCACCACCTCACCTCCTCACTCACCCCCTACTCA ACCCCTCATTCACCCCTCACCCCCTCACTCACCCCTTCATCCACTCACCC ACCTGCTCACCTCCTCACTCAACCCCTCACCCCCTCACTAATCCCTCACT CCCTCACCCCCCTCACGCCCTCACTCACCCTTCACCTCCTCACTCACCCC CTCACCCCCTCAACCCCTTACTTACCCCCTCATTCATCCCTTCACCCCTC ACTCACCCCGTCTCTCACCCATTCACCCCCTCACTCATGCCTTCACCCCC TCACTCTCCTCCTCACTCCCCCCTTCACCCCTCAGTCACCCCCTCACTCA CCCCTTCACCCCCTCAATCATGCCTTCACTCCCTCACTCACCCCTTCACC CTCTGAATCACTCCCTCATCCCCTCACCCACCCCTCACCCACCCCCTCAC TCACCCCCTCACCTCCTTAC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TRAF6_chr11_36478769_36515272	36507419	A A	CTGTATAT others(941): Show CTGTATATATACATGTATTATACATACATAAATGTATATCTGTATATATA CATGTATTATACATACATAAATGTATATCTGTATATATACATGTATTATA CATACATAAATGTATATCTGTATATATACATGTATTATACATACATAAAT GTATATCTGTATATATACATGTATTATACATACATAAATGTATATCTGTA TATATACATGTATTATACATACATAAATGTATATCTGTATATATACATGT ATTATACATACATAAATGTATATCTGTATATATACATGTATTATACATAC ATAAATGTATATCTGTATATATACATGTATTATACATAAATGTATATATG TATATATACATGTATTATACATACATAAATGTATATATGTATATATACAT GTATTATACATACATAAATGTATATATACATTATACATACATAAATGTAT ATATGTATATATACATTATACATACATAAATGTATATATGTATATATACA TTATACATACATAAATGTATAATGTATATATACATTATACATACATAAAT GTATTATGTATATATACATTATACATACGTAAATGTATATATGTATATAT ACATTATACATACGTAAATTATACATAAATGTATATATGTATATATACAT GTATTATACATACATAAATGTATATATGTATATATACATGTATTATACAT ACATAAATGTATATATGTATATATACATGTATTATACATACATAAATGTA TATATGTATATATACATGTATTATACATACATAAATGTATATATGTATAT ATACATGTATTATACATACATAAATGTATATATGTATATATACATGTATT ATACATACATAAATGTATATATGTATATATACATGTATTATACATACATA AATGTATATATGTATATATACATGTATTATACATACATAAATGTATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0295 a0001c0001t0051g0295	1	388	0.0026	948	c.-23 others(965): Show c.-23+2629_-23+2630insATATACATTTATGTATGTATAATACATG TATATATACATATATACATTTATGTATGTATAATACATGTATATATACAT ATATACATTTATGTATGTATAATACATGTATATATACATATATACATTTA TGTATGTATAATACATGTATATATACATATATACATTTATGTATGTATAA TACATGTATATATACATATATACATTTATGTATGTATAATACATGTATAT ATACATATATACATTTATGTATGTATAATACATGTATATATACATATATA CATTTATGTATGTATAATACATGTATATATACATATATACATTTATGTAT AATTTACGTATGTATAATGTATATATACATATATACATTTACGTATGTAT AATGTATATATACATAATACATTTATGTATGTATAATGTATATATACATT ATACATTTATGTATGTATAATGTATATATACATATATACATTTATGTATG TATAATGTATATATACATATATACATTTATGTATGTATAATGTATATATA CATTTATGTATGTATAATACATGTATATATACATATATACATTTATGTAT GTATAATACATGTATATATACATATATACATTTATGTATAATACATGTAT ATATACAGATATACATTTATGTATGTATAATACATGTATATATACAGATA TACATTTATGTATGTATAATACATGTATATATACAGATATACATTTATGT ATGTATAATACATGTATATATACAGATATACATTTATGTATGTATAATAC ATGTATATATACAGATATACATTTATGTATGTATAATACATGTATATATA CAGATATACATTTATGTATGTATAATACATGTATATATACAGATATACAT TTATGTATGTATAATACATGTATATATACAGATATACATTTATGTATGTA TAATACATGTATATATACAG	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TUBB2B_chr6_3219277_3232653	3222288	T T	TCACCATC others(941): Show TCACCATCATCACCACCACCACCACTACCACTACCACCATCATAATTACC ACCACCATCACCACCACCACCACCACTATCACCATCATCACCACCACCAC CACCACCACTAGCACAACCACAACACTACCACATCACCACCACCACTACC ACTACTACCATCACCATCACCACCACCATCACCACCACCACAATACTACC ACATCACCACCACCACCATCATCATCACCACCACTACCACCACCACTACC ACCACCACCACCATCACTACTACCATCACCACCACCACCACCATCACCAC CACCACGACCACCACAACACTACCACATCACCACCACCACCATCACCACT GCCACCACCACTACCACCACCACCACTACCACCATCGCCACCATCACCAC CACATCACCACCACCACCACCACTACTACCACCACCACCACCATCACCAC TACTACCATCACCACTACCACCACCACCACCATCACCACCACCATCACCA CCACCACTACCACCACCACCACTACCACCATCGCCACCATCACCACCACA TCACCACCACCACCACACTACCACCACCACCACCATCACCACTACTACCA TCACCACTACTACCACCACCACCATCACAATCACCACTATCACCATCATC ACCATCACTACCACCACCACCATCACCATCATCGCCACCACCACCAACAC TACTGCCACCACCACTATTACCATCACCACCACTACTACCACCACCACTA CCATAACCACCATCATCACCATCACCATCATTACTGCTATTATGACCACC ATCACTACCACCATTATCACCACCACCACTAAACTACCACCACTACCTCA CTGCCATCATCACCATCACCATTACTAACATCACCATTACTAACATCACC ATTATAATACTACCACCATCACTACCACCACCACCACCACCACCATCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG02135.hp1 NA18612.hp2 HG00621.hp2 HG02135.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	360	0.0083	948	c.24 others(959): Show c.2462_*2463insGTGATGGTGGTGGTGGTGGTGGTGGTAGTGATGG TGGTAGTATTATAATGGTGATGTTAGTAATGGTGATGTTAGTAATGGTGA TGGTGATGATGGCAGTGAGGTAGTGGTGGTAGTTTAGTGGTGGTGGTGAT AATGGTGGTAGTGATGGTGGTCATAATAGCAGTAATGATGGTGATGGTGA TGATGGTGGTTATGGTAGTGGTGGTGGTAGTAGTGGTGGTGATGGTAATA GTGGTGGTGGCAGTAGTGTTGGTGGTGGTGGCGATGATGGTGATGGTGGT GGTGGTAGTGATGGTGATGATGGTGATAGTGGTGATTGTGATGGTGGTGG TGGTAGTAGTGGTGATGGTAGTAGTGGTGATGGTGGTGGTGGTGGTAGTG TGGTGGTGGTGGTGATGTGGTGGTGATGGTGGCGATGGTGGTAGTGGTGG TGGTGGTAGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTA GTGGTGATGGTAGTAGTGGTGATGGTGGTGGTGGTGGTAGTAGTGGTGGT GGTGGTGGTGATGTGGTGGTGATGGTGGCGATGGTGGTAGTGGTGGTGGT GGTAGTGGTGGTGGCAGTGGTGATGGTGGTGGTGGTGATGTGGTAGTGTT GTGGTGGTCGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTAGTAGT GATGGTGGTGGTGGTGGTAGTGGTGGTGGTAGTGGTGGTGATGATGATGG TGGTGGTGGTGATGTGGTAGTATTGTGGTGGTGGTGATGGTGGTGGTGAT GGTGATGGTAGTAGTGGTAGTGGTGGTGGTGATGTGGTAGTGTTGTGGTT GTGCTAGTGGTGGTGGTGGTGGTGGTGATGATGGTGATAGTGGTGGTGGT GGTGGTGATGGTGGTGGTAATTATGATGGTGGTAGTGGTAGTGGTGGTGG TGGTGATGATGGTG	TUBB2B	ENSG00000137285.11	transcript	ENST00000259818.8	protein_coding		1988		chr6	TogoVar
TUBB2B_chr6_3219277_3232653	3222288	T T	TCACCATC others(941): Show TCACCATCATCACCACCACCACCACTACCACTACCACCATCATAATTACC ACCACCATCACCACCACCACCACCACTATCACCATCATCACCACCACCAC CACCACCACTAGCACAACCACAACACTACCACATCACCACCACCACTACC ACTACTACCATCACCATCACCACCACCATCACCACCACCACAATACTACC ACATCACCACCACCACCATCATCATCACCACCACTACCACCACCACTACC ACCACCACCACCATCACTACTACCATCACCACCACCACCACCATCACCAC CACCACGACCACCACAACACTACCACATCACCACCACCACCATCACCACT GCCACCACCACTACCACCACCACCACTACCACCATCGCCACCATCACCAC CACATCACCACCACCACCATCACTACTACCACCACCACCACCATCACCAC TACTACCATCACCACTACCACCACCACCACCATCACCACCACCATCACCA CCACCACTACCACCACCACCACTACCACCATCGCCACCATCACCACCACA TCACCACCACCACCACACTACCACCACCACCACCATCACCACTACTACCA TCACCACTACTACCACCACCACCATCACAATCACCACTATCACCATCATC ACCATCACTACCACCACCACCATCACCATCATCGCCACCACCACCAACAC TACTGCCACCACCACTATTACCATCACCACCACTACTACCACCACCACTA CCATAACCACCATCATCACCATCACCATCATTACTGCTATTATGACCACC ATCACTACCACCATTATCACCACCACCACTAAACTACCACCACTACCTCA CTGCCATCATCACCATCACCATTACTAACATCACCATTACTAACATCACC ATTATAATACTACCACCATCACTACCACCACCACCACCACCACCATCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	360	0.0028	948	c.24 others(959): Show c.2462_*2463insGTGATGGTGGTGGTGGTGGTGGTGGTAGTGATGG TGGTAGTATTATAATGGTGATGTTAGTAATGGTGATGTTAGTAATGGTGA TGGTGATGATGGCAGTGAGGTAGTGGTGGTAGTTTAGTGGTGGTGGTGAT AATGGTGGTAGTGATGGTGGTCATAATAGCAGTAATGATGGTGATGGTGA TGATGGTGGTTATGGTAGTGGTGGTGGTAGTAGTGGTGGTGATGGTAATA GTGGTGGTGGCAGTAGTGTTGGTGGTGGTGGCGATGATGGTGATGGTGGT GGTGGTAGTGATGGTGATGATGGTGATAGTGGTGATTGTGATGGTGGTGG TGGTAGTAGTGGTGATGGTAGTAGTGGTGATGGTGGTGGTGGTGGTAGTG TGGTGGTGGTGGTGATGTGGTGGTGATGGTGGCGATGGTGGTAGTGGTGG TGGTGGTAGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTA GTGGTGATGGTAGTAGTGGTGATGGTGGTGGTGGTGGTAGTAGTGATGGT GGTGGTGGTGATGTGGTGGTGATGGTGGCGATGGTGGTAGTGGTGGTGGT GGTAGTGGTGGTGGCAGTGGTGATGGTGGTGGTGGTGATGTGGTAGTGTT GTGGTGGTCGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTAGTAGT GATGGTGGTGGTGGTGGTAGTGGTGGTGGTAGTGGTGGTGATGATGATGG TGGTGGTGGTGATGTGGTAGTATTGTGGTGGTGGTGATGGTGGTGGTGAT GGTGATGGTAGTAGTGGTAGTGGTGGTGGTGATGTGGTAGTGTTGTGGTT GTGCTAGTGGTGGTGGTGGTGGTGGTGATGATGGTGATAGTGGTGGTGGT GGTGGTGATGGTGGTGGTAATTATGATGGTGGTAGTGGTAGTGGTGGTGG TGGTGATGATGGTG	TUBB2B	ENSG00000137285.11	transcript	ENST00000259818.8	protein_coding		1988		chr6	TogoVar
UCKL1_chr20_63934829_63961416	63948630	G G	GAGGGGTG others(941): Show GAGGGGTGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGGCGTGT GTGAAAGGGAGGGGCGTGTGTGAGGGAGGGGCGTGTGTGAGAGGGAGGGG CGTGTGTGAGAGGCAGGGGCGTGTGTGAGAGTGGGGGCGTGTGTGAGGGG GGGGCGTGTGTGAGAGGGAGGGGGCGTGTGTGAGAGTTAGGGGCGTGAGA GGTAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTG TGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGGCGTGTGTGAGAGGGA GGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGGGAGGGGGCGTGTGTGA GAGGGAGGGGCGTGTGTGAGAGGGAGGGGGCGTGTGTGAGGGAGGGGGCG TGTGTGAGAGGGAGGGGCGTGTGAGAGGGAGGGGGCGTGTGTGAGAGGCA GGGGCGTGTGTGTGAGGGAGGGGCGTGAGAGGGAGGGGCGTGTGTGAGGG GGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGGCGTGTGT GAGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGGGAGGGGG CGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAG GGAGGGGGCGTGTGTGAGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGCGT GTGTGAAGGGAGGGGCGTGTGTGAGAGTGGGGGCGTGTGTGAGAGTTAGG GGCGTGAGAGGTAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGG AGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGT GAGAGGCAGGGGCGTGTGTGAGAGGGAGGGGGCGTGTGTGAGAGGGAGGG GCGTGTGTGAGAGGGAAGGGGCGTGTGAGAGGGAGGGGCGTGTGTGAGA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0230 a0001c0002t0001g0230	1	356	0.0028	948	c.114 others(965): Show c.114-1988_114-1987insTCTCACACACGCCCCTCCCTCTCACACG CCCCTTCCCTCTCACACACGCCCCTCCCTCTCACACACGCCCCCTCCCTC TCACACACGCCCCTGCCTCTCACACACGCCCCTCCCTCTCACACACGCCC CTCCCTCTCACACACGCCCCTCCCTCTCACACACGCCCCTCCCTCTCACA CACGCCCCTACCTCTCACGCCCCTAACTCTCACACACGCCCCCACTCTCA CACACGCCCCTCCCTTCACACACGCCCCTCCCTCTCACACACGCCCCCTC CCTCTCACACACGCCCCCTCCCTCTCACACACGCCCCTCCCTCTCACACA CGCCCCTCCCTCTCACACACGCCCCCTCCCTCACACACGCCCCTCCCTCT CACACACGCCCCCTCCCTCTCACACACGCCCCCTCCCTCTCACACACGCC CCTCCCTCTCACACACGCCCCCCCTCACACACGCCCCTCCCTCTCACGCC CCTCCCTCACACACACGCCCCTGCCTCTCACACACGCCCCCTCCCTCTCA CACGCCCCTCCCTCTCACACACGCCCCCTCCCTCACACACGCCCCCTCCC TCTCACACACGCCCCTCCCTCTCACACACGCCCCCTCCCTCACACACGCC CCTCCCTCTCACACACGCCCCTCCCTCTCACACACGCCCCCTCCCTCTCA CACACGCCCCTCCCTCTCACACACGCCCCTCCCTCTCACACACGCCCCTC CCTCTCACACACGCCCCTACCTCTCACGCCCCTAACTCTCACACACGCCC CCTCCCTCTCACACACGCCCCCCCCTCACACACGCCCCCACTCTCACACA CGCCCCTGCCTCTCACACACGCCCCTCCCTCTCACACACGCCCCTCCCTC ACACACGCCCCTCCCTTTCACACACGCCCCCTCCCTCTCACACACGCCCC TCCCTCTCACACACACCCCT	UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding	1/14			chr20	TogoVar
USP2_chr11_119350215_119386690	119351510	C C	CCTCCTCT others(941): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CTTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCCTCCCCTCCCCTCCTCTCTCCTC CCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTC CCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTC CCCTCCCCTCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCTCTCCTCCGCTCCCGCTCCCCCTCTCCTCCACTCCT CTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCCCCTCCCTTCCCCTCTC CTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTCTCCTC CGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTC CCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTC CCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCGCTCCCCCTCCCCCTCTCC TCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCC TCCCCTCTCCTCTGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTC TCTCCTCCCCTCCCCTCTCCTCCGCTCCCCTCCCCTCTCCTCCACTCCTC TCCCCTCCCCTCCTCTCTCCTCCACTCCTCTCCCCTCCTCTCCTCTCTCC TCCCCTCCCCTCTCCTCCCCTCCCCACCCCTCCCCTCCCCTCCTTTCTCC TCCCCTCCCCACGGCTCCCCTCCCCTCCTTTCTCCTCCCTTGCCGTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0008 a0001c0005t0009g0008	1	202	0.0050	948	c.53 others(959): Show c.5324_*5325insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGGGGAGCGGAGGAGA GGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCAGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGGAGGGGGAGCGGAGGGGAGGAGAGAG GAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGG GAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGA GAGGGGAGGGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGGGGAGGAGAG GGGAAGGGAGGGGAGAGGAGTGGAGGAGAGGGGGAGCGGGAGCGGAGGAG AGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGA GGAGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAG GAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAG GAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGGAGGAGAGA GGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGA GGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGA GGAGGGGAGGGGAAGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGACAGA GGAGGAGAGAGGAG	USP2	ENSG00000036672.16	transcript	ENST00000260187.7	protein_coding		3704		chr11	TogoVar
ABCC4_chr13_95014835_95306451	95025448	A A	ACACCCAC others(942): Show ACACCCACACACCCATACACACACACACCAGACCCCCACACCCCCACACC CATTCACACACACCCACCCACCCACACCCACACCCACCACACACACCCAC ACCCCCACACACACCCTCCCACCCCCACACACACACATACCCCCACCACA CACCCACACACCCCCTCACACACACACCCACACCCACCACACACCCCCAC CACACACCCACATACACCCACACCCCCACCACACACCCATACACACACCC CCACATACTAATACACACACTCCCACACCCTCCCACCCCCCCACACCCCC ACCACACACCAATACACACCCACACACCCCCTCACACACACACCCACACA CCCATACACACACCCACCACACACCCATACATACAAACCCCCACACCCCC TCACACCCTCCCCCCACTCACCCATACACAACCCCCACCACACCCCCACA CCCATACACACACACCCCCACCACACCCATACACACACCCCTGCACCCCC TCACACACCCTCCCCCCACACACCCATACACACACCCCCACCACACCCCC ACACCCATACACACACACACCCCCACCACACCCATACACACACCCCTGCA CCCCCTCACACACCCTCCCCCCTCACCCATACACAACCCCCACCACACCC CCACACCCATACACACACACACCCCCACCACACCCATACACACACCCCTG CACCCCCTCACACACCCTCCCCCCCACACACCCATACACACACCCCCACA CCCCCACCACACCCATACACACACACCCGTACCCCCTCACACCCTCCCCC CACACACCTATCCCCACCACACACCCATACACACACACCCACACACACAC CACACCCATACACACACATACCCCCACACCCCCACACACACCCTCCCTCA CACACACCCCCACCACACACCCATACACACCCCAACCCCCCCCACACACC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0020 a0001c0003t0001g0020	1	248	0.0040	949	c.387 others(968): Show c.3871-3767_3871-3766insGGTGTGTGGGGGGGGTTGGGGTGTGT ATGGGTGTGTGGTGGGGGTGTGTGTGAGGGAGGGTGTGTGTGGGGGTGTG GGGGTATGTGTGTGTATGGGTGTGGTGTGTGTGTGGGTGTGTGTGTATGG GTGTGTGGTGGGGATAGGTGTGTGGGGGGAGGGTGTGAGGGGGTACGGGT GTGTGTGTATGGGTGTGGTGGGGGTGTGGGGGTGTGTGTATGGGTGTGTG GGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGTGG GGGTGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTATGGGT GAGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGT GGGGGTGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTGTGTGTATG GGTGTGTGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGT GTGGTGGGGGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTA TGGGTGAGTGGGGGGAGGGTGTGAGGGGGTGTGGGGGTTTGTATGTATGG GTGTGTGGTGGGTGTGTGTATGGGTGTGTGGGTGTGTGTGTGAGGGGGTG TGTGGGTGTGTATTGGTGTGTGGTGGGGGTGTGGGGGGGTGGGAGGGTGT GGGAGTGTGTGTATTAGTATGTGGGGGTGTGTGTATGGGTGTGTGGTGGG GGTGTGGGTGTATGTGGGTGTGTGGTGGGGGTGTGTGGTGGGTGTGGGTG TGTGTGTGAGGGGGTGTGTGGGTGTGTGGTGGGGGTATGTGTGTGTGTGG GGGTGGGAGGGTGTGTGTGGGGGTGTGGGTGTGTGTGGTGGGTGTGGGTG TGGGTGGGTGGGTGTGTGTGAATGGGTGTGGGGGTGTGGGGGTCTGGTGT GTGTGTGTATGGGTGTGTGGGTG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ADAMTS3_chr4_72275969_72574221	72456223	A A	AGTATGTA others(942): Show AGTATGTACTCTATATATTTTATATATAGTATGTACTCTATATATTTTAT ATATAGTATGTACTATATATTTTATATATAGTATGTACTATATATTTTAT ATATAGTATGTACTATATATATTTTATATATAGTATGTACTATATATATT TTATATATAGTATGTACATTGTATATACTATATATATATTTTATGTATAG TATGTACTATATATATTTTATGTATAGTATGTACATTGTATATACTATAT ATATATTTTATGTATAGTATGTACTATATATATTTTATGTATAGTATATA TACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTAC TATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTT ATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATA TATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGT ACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATT TTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTA TATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTAT GTACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATA TTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAG TATATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGT ATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATA TATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTAT AGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATATACT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0060 a0002c0002t0003g0060	1	182	0.0055	949	c.505 others(968): Show c.505-41253_505-41252insAGTATATATACTATACATAAAATATA TATAGTACATACAGTATATATACTATACATAAAATATATATAGTACATAC AGTATATATACTATACATAAAATATATATAGTACATACAGTATATATACT ATACATAAAATATATATAGTACATACAGTATATATACTATACATAAAATA TATATAGTACATACAGTATATATACTATACATAAAATATATATAGTACAT ACAGTATATATACTATACATAAAATATATATAGTACATACAGTATATATA CTATACATAAAATATATATAGTACATACAGTATATATACTATACATAAAA TATATATAGTACATACAGTATATATACTATACATAAAATATATATAGTAC ATACAGTATATATACTATACATAAAATATATATAGTACATACAGTATATA TACTATACATAAAATATATATAGTACATACAGTATATATACTATACATAA AATATATATAGTACATACAGTATATATACTATACATAAAATATATATAGT ACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTATA TATACTATACATAAAATATATATAGTACATACAGTATATATACTATACAT AAAATATATATAGTACATACAGTATATATACTATACATAAAATATATATA GTACATACTATACATAAAATATATATATAGTATATACAATGTACATACTA TACATAAAATATATATAGTACATACTATACATAAAATATATATATAGTAT ATACAATGTACATACTATATATAAAATATATATAGTACATACTATATATA AAATATATATAGTACATACTATATATAAAATATATAGTACATACTATATA TAAAATATATAGTACATACTATATATAAAATATATAGAGTACATACTATA TATAAAATATATAGAGTACATAC	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACTCTA others(942): Show GTACTCTATATATTTTATATATAGTATGTACTCTATATATTTTATATATA GTATGTACTATATATTTTATATATAGTATGTACTATATATTTTATATATA GTATGTACTATATATATTTTATATATAGTATGTACTATATATATTTTATA TATAGTATGTACATTGTATATACTATATATATATTTTATGTATAGTATGT ACTATATATATTTTATGTATAGTATGTACATTGTATATACTATATATATA TTTTATGTATAGTATGTACTATATATATTTTATGTATAGTATATATACTG CATGTACTATATATATTTTATGTATAGTATATATACTGCATGTACTATAT ATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTA TAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATATAC TGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTAT ATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATG TATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATAT ACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACT ATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTA TGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATAT ATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTA CTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTT TATGTATAGTATATATACTGTATATACTATATATATTTTATGTATAGTAT ATATACTGTATATACTATATATATTTTATGTATAGTATATATACTGTATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0117 a0001c0001t0004g0117	1	182	0.0055	949	c.505 others(968): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTATATACAGTATATATACTATACATAAAATATATATAGTA TATACAGTATATATACTATACATAAAATATATATAGTACATACAGTATAT ATACTATACATAAAATATATATAGTACATACAGTATATATACTATACATA AAATATATATAGTACATACAGTATATATACTATACATAAAATATATATAG TACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTAT ATATACTATACATAAAATATATATAGTACATACAGTATATATACTATACA TAAAATATATATAGTACATACAGTATATATACTATACATAAAATATATAT AGTACATACAGTATATATACTATACATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATACAGTATATATACTATA CATAAAATATATATAGTACATACAGTATATATACTATACATAAAATATAT ATAGTACATACAGTATATATACTATACATAAAATATATATAGTACATACA GTATATATACTATACATAAAATATATATAGTACATGCAGTATATATACTA TACATAAAATATATATAGTACATGCAGTATATATACTATACATAAAATAT ATATAGTACATACTATACATAAAATATATATATAGTATATACAATGTACA TACTATACATAAAATATATATAGTACATACTATACATAAAATATATATAT AGTATATACAATGTACATACTATATATAAAATATATATAGTACATACTAT ATATAAAATATATATAGTACATACTATATATAAAATATATAGTACATACT ATATATAAAATATATAGTACATACTATATATAAAATATATAGAGTACATA CTATATATAAAATATATAGAGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACTCTA others(942): Show GTACTCTATATATTTTATATATAGTATGTACTCTATATATTTTATATATA GTATGTACTATATATTTTATATATAGTATGTACTATATATTTTATATATA GTATGTACTATATATATTTTATATATAGTATGTACTATATATATTTTATA TATAGTATGTACATTGTATATACTATATATATATTTTATGTATAGTATGT ACTATATATATTTTATGTATAGTATGTACATTGTATATACTATATATATA TTTTATGTATAGTATGTACTATATATATTTTATGTATAGTATATATACTG TATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTATAT ATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTA TAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATATAC TGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTAT ATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATG TATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATAT ACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACT ATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTA TGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATAT ATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTA CTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTT TATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTAT ATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0070 a0002c0002t0002g0070	1	182	0.0055	949	c.505 others(968): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTACATACAGTATATATACTATACATAAAATATATATAGTA CATACAGTATATATACTATACATAAAATATATATAGTACATACAGTATAT ATACTATACATAAAATATATATAGTACATACAGTATATATACTATACATA AAATATATATAGTACATACAGTATATATACTATACATAAAATATATATAG TACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTAT ATATACTATACATAAAATATATATAGTACATACAGTATATATACTATACA TAAAATATATATAGTACATACAGTATATATACTATACATAAAATATATAT AGTACATACAGTATATATACTATACATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATACAGTATATATACTATA CATAAAATATATATAGTACATACAGTATATATACTATACATAAAATATAT ATAGTACATACAGTATATATACTATACATAAAATATATATAGTACATACA GTATATATACTATACATAAAATATATATAGTACATACAGTATATATACTA TACATAAAATATATATAGTACATACAGTATATATACTATACATAAAATAT ATATAGTACATACTATACATAAAATATATATATAGTATATACAATGTACA TACTATACATAAAATATATATAGTACATACTATACATAAAATATATATAT AGTATATACAATGTACATACTATATATAAAATATATATAGTACATACTAT ATATAAAATATATATAGTACATACTATATATAAAATATATAGTACATACT ATATATAAAATATATAGTACATACTATATATAAAATATATAGAGTACATA CTATATATAAAATATATAGAGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(942): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCCTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCACCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCCTTCCA CCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACCC GTCCACTCATCCATCCACCCACCCATTCATCCATCCACCCACCCATTCAT CCATTCACCCACCCATTCATCCATCCACCCACCCATTCATCCATCCACCC ATCCATTCATCCATTCACCCATCCATTCATCCATTCACCCATCCATTCAT CCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACCC ATCCATTCATCCATTCACCCACCCACTCATCCATCCACCCATCCATTCAT CCATTCACCCACCCATTCATCCATCCACCCATCCATTCATCCATTCACCC ACCCATTCATCCATCCACCCATCCATTCATCCATTCACCCATCCATTCAT CCATCCACCCATCCATTCATCCATTCACCCACCCACTCATCCATCCACCC ATCCATTCGCCCACCCATTTACCTACCCATTAATTCACCCACCCTTCCAC CACCCACCCACCCATCCATATACCCACCCACCCATTCACCCATCCATTCA TCCATCCACCCACCCACCCATTCACCCACCCACCCAGCCATCTCACCCAT TCACCCATCCACTCATCCATTCACCTATCCACCCACCCATCCACTCATCC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0014 a0013c0016t0014	a0013c0016t0014g0100 a0013c0016t0014g0100	1	262	0.0038	949	c.775 others(964): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGCGAATGGATGGGTGGATGGATGAGTGGGTGGGTGAATGG ATGAATGGATGGGTGGATGGATGAATGGATGGGTGAATGGATGAATGGAT GGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGG ATGAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAGTGGGT GGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGG ATGAATGGATGGGTGGATGGATGAATGGATGGGTGAATGGATGAATGGAT GGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGTGGATGG ATGAATGGGTGGGTGAATGGATGAATGGGTGGGTGGATGGATGAATGGGT GGGTGGATGGATGAGTGGACGGGTGAATTGATGGGTGGGTGGGTATATGG ATGGGTGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATGGATGGGTTGATA AATGGGTGGGCGAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGA TGAATGGGTGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGGTG GGTGGATGGATGAGTGGACGGGTGAATTGATGGGTGGGTGGGTATATGGA TGGGTGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATGGATGGGTTGATAA ATGGGTGGGCGAATGGATGGGTGGATGGATGAGTGGATGGTGAATGGATG GGTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
CALN1_chr7_71774491_72417338	72114242	T T	TGGGAAGG others(942): Show TGGGAAGGGAAGGGAAGGGAAGGGAAGGGAGTAAAAATAAAAGTGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0099 a0001c0001t0045g0099	1	142	0.0070	949	c.245 others(966): Show c.245-7949_245-7948insCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCACTTTTATTTTTACTCCCTTCC CTTCCCTTCCCTTCCCTTCCC	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(942): Show ATATATATAAAATTATATATATAATTATATATATATATAATTATATATAT AATTTTATATATATATAATTATATATATAATTTTATATATATATAATTAT ATATATAATTATATATATATATAATTATATATATAATTATATATATATAA AATTATATATAAAATTATATATATAATTATATATATATTATATATATAAT TTTATATATATATTATATATATAATTTTATATATATATAATTATATATAT AATTTTATATATATAATTATATATATAATTATATATATAATTATATATAT ATAATTATATATATAATTATATATATAATTTTATATATAATTTTATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATAATTTTAT ATATATATAATTATATATATTTATATATATATAATTATATATATATATAA AATTATATATATAATTATATATATTATATATAATTATATATATAATTTTA TATATATAATTATATATATTTATATATATATATAATTATATATATATATA AAATTATATATATAATTATATATATATTATATATAATTATATATATATAT TATATATAATTTTATATATATAATTATATATATAATTTTATATATATAAT TTTATATATATAATTTTATATATATAATTTTATATATATAATTATATATA TAATTTTATATATATATAATTATATATATAATTTTATATATATATAATTA TATATAATTTTATATATATATAATTATATATATAATTTTATATATATATA ATTATATATATAATTTTATATATATATAATTATATATATAATTATATATA TAATTTTATATATATAATTATATATATAATTTTATATATATATAATTATA TATATAATTTTATATATATAATTATATATATAATTTTATATATATATAAT	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18980.hp1 HG02155.hp2 NA18980.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0063 a0002c0002t0003g0076 a0002c0002t0003g0063 a0002c0002t0003g0076	2	330	0.0061	949	c.907 others(964): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAATTATATATATAATTATATATA TATAAAATTATATATATAATTATATATATATAAAATTATATATATAATTA TATATATATAAAATTATATATAATTATATATATATAAAATTATATATATA ATTATATATATATAAAATTATATATATAATTATATATATAAAATTATATA TATAAAATTATATATATAAAATTATATATATAAAATTATATATATAATTA TATATATAAAATTATATATAATATATATATATAATTATATATAATATATA TATAATTATATATATAATTTTATATATATATATAATTATATATATATATA AATATATATAATTATATATATAAAATTATATATATAATTATATATAATAT ATATAATTATATATATAATTTTATATATATATATAATTATATATATATAA ATATATATAATTATATATATATAAAATTATATATATAATTATATATATAT AAAATTATATATATAATTATATATATAAAATTATATATAAAATTATATAT ATAATTATATATATAATTATATATATATAATTATATATATAATTATATAT ATAATTATATATATAAAATTATATATATAATTATATATATATAAAATTAT ATATATAATATATATATAAAATTATATATATAATATATATATAATTATAT ATATAATTTTATATATAATTTTATATATATATAATTATATATATAATTAT ATATATATATAATTATATATATAATTATATATATATAAAATTATATATAT AATTATATATATATAAAATTATATATATAATTATATATATATATAATTAT ATATATAATTTTATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMTA1_chr1_6780454_7774706	6940912	A A	AGGGGGTC others(942): Show AGGGGGTCCTCACAGGGAGGGGGGTCCTCAGAGGGAGAGGGATCCTCCCG GGGAAGGGGGATCCTCACGGGGAAGGGCATCCTCAGGGGGAAGGGGGATC CTCATGGGGAGGGGGATCCTCAGGGGGAGGGGAGATCCTCATGAGGAGGG GGGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGG GAGGAGGATCCTCAGGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCA GGGGGAGGGGGATCCTCACAGGGAGGGGATCCTCGGGAAGGTGGATCCTC AGGGGGAGGGGATCCTCACGGGGAGGTGGATCCTCAGGGGGAGGGGGATC CTCACGGGGAGGGGATCCTCAGGGGGAGGTGGATCCTCAGGGGGAGGGGG ATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGTGGATCCTCACGGGGAG GGGATCCTCGGGAAGGTGGATCCTCAGGGGGAGGGGGATCCTCACGGGGA GGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAGGTGGATCCTCAGG GGGAGGGGGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGTGGATCCT CACGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACAGGGAGGGGAT CCTCGGGAAGGTGGATCCTCACGGGGAGGAGGATCCTCACGGGGAGGGGG ATCCTCAGGGGGAGGTGGATCCTCACGGGGAGGGGGATCCTCACGGGGAG GGGGATCCTCAGGGGGAGGTGGATCCTCACAGGGAGGCGGGTCCTCACGG GGAGGGGGATCCTCACAGGGAGGCGGGTCCTCACGGGGAGGGGGATCCTC ACGGGGAGGGGGATCCTCACGGGGAGGGGGATCCTCAGAGGGAGGGGGGA TCCTTGGGGGGAGGGGGATCCTCACAGGGTGGGGGGATCCTCACAGGGAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03453.hp2 HG01884.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0013 a0001c0003t0008 a0001c0001t0013 a0001c0003t0008	a0001c0001t0013g0056 a0001c0003t0008g0032 a0001c0001t0013g0056 a0001c0003t0008g0032	2	58	0.0345	949	c.234 others(970): Show c.234+115706_234+115707insGTCCTCACAGGGAGGGGGGTCCTC AGAGGGAGAGGGATCCTCCCGGGGAAGGGGGATCCTCACGGGGAAGGGCA TCCTCAGGGGGAAGGGGGATCCTCATGGGGAGGGGGATCCTCAGGGGGAG GGGAGATCCTCATGAGGAGGGGGGATCCTCACGGGGAGGGGGATCCTCAG GGGGAGGGGGATCCTCACGGGGAGGAGGATCCTCAGGGGGAGGGGGATCC TCAGGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACAGGGAGGGGA TCCTCGGGAAGGTGGATCCTCAGGGGGAGGGGATCCTCACGGGGAGGTGG ATCCTCAGGGGGAGGGGGATCCTCACGGGGAGGGGATCCTCAGGGGGAGG TGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAGGGGGATCCTCAGGGG GAGGTGGATCCTCACGGGGAGGGGATCCTCGGGAAGGTGGATCCTCAGGG GGAGGGGGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTC ACGGGGAGGTGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAGGGGGAT CCTCAGGGGGAGGTGGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGG GGATCCTCACAGGGAGGGGATCCTCGGGAAGGTGGATCCTCACGGGGAGG AGGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGTGGATCCTCACGGG GAGGGGGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGTGGATCCTCA CAGGGAGGCGGGTCCTCACGGGGAGGGGGATCCTCACAGGGAGGCGGGTC CTCACGGGGAGGGGGATCCTCACGGGGAGGGGGATCCTCACGGGGAGGGG GATCCTCAGAGGGAGGGGGGATCCTTGGGGGGAGGGGGATCCTCACAGGG TGGGGGGATCCTCACAGGGAGGGGG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC183_chr9_136791338_136812741	136803167	C C	CCTCTTGG others(942): Show CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGG GGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGC CAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGG CCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCTCCAGGGCGGGCT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0371 a0001c0001t0002g0371	1	398	0.0025	949	c.666 others(964): Show c.666+427_666+428insCGGGGGCCCTCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGG GGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCTGGGGCCCTCCAGGGCGGGCTCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCTGGGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP61_chr20_20047532_20365698	20320494	A A	AATATAAT others(942): Show AATATAATATATGTAATATATATTATATATGCAATATATATTACATATAT TATATATGCAATATATATTATATATATTATATATGCAATATATATTATAT ATATTATATATGCAATATATATTATATATATTATATATGCAATATATATT ATATATGCAATATATATTATATATATTATATATGCAATATATATTATATA TATTACATATGTAATATATATTACATATGTAATATATAATATATTATATA TTACATATGTAATATATAATATATATTACATATGTAATATATAATATATA TTACATATGTAATATATAATATATATTACATATGTAATATATTATATATT ACATATGTAATATATATAATATATTACATATGTAATATATAATATATTAT ATATGTAATATATATTACATATATAATATATATAATATATATGTAATATA TTATATATATTATATATGTAATATATATTACATATATAATATATATTATA TATATTACATATATTATATATGTAATATATATTACATATGTAATATATGT AATATATATTACATATGTAATATATATTATATATGTAATATATATTACAT ATATTATATATGTAATATATATTATATATTATATATGTAATATATATTAT ATATATTATATATGTAATATATATTATATATAATATATGTAATATATATT ATATATGTAATGTATATTATATATATTATATATGTAATGTATATTATATA TAATATATGTAATGTATATTATATATGTAATATATATTATATATATTATA TATGTAATATATATTATATATATTATATATGTAATATATATAATATATAT TATATATGTAATATATATTATATATATTATATATGTAATATATATTATAT ATATTATATATGTAATATATATTATATATATTATATATGTAATATATATT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0024 a0002c0002t0002g0024	1	236	0.0042	949	c.342 others(970): Show c.3423-21332_3423-21331insATATATGTAATATATATTATATAT GCAATATATATTACATATATTATATATGCAATATATATTATATATATTAT ATATGCAATATATATTATATATATTATATATGCAATATATATTATATATA TTATATATGCAATATATATTATATATGCAATATATATTATATATATTATA TATGCAATATATATTATATATATTACATATGTAATATATATTACATATGT AATATATAATATATTATATATTACATATGTAATATATAATATATATTACA TATGTAATATATAATATATATTACATATGTAATATATAATATATATTACA TATGTAATATATTATATATTACATATGTAATATATATAATATATTACATA TGTAATATATAATATATTATATATGTAATATATATTACATATATAATATA TATAATATATATGTAATATATTATATATATTATATATGTAATATATATTA CATATATAATATATATTATATATATTACATATATTATATATGTAATATAT ATTACATATGTAATATATGTAATATATATTACATATGTAATATATATTAT ATATGTAATATATATTACATATATTATATATGTAATATATATTATATATT ATATATGTAATATATATTATATATATTATATATGTAATATATATTATATA TAATATATGTAATATATATTATATATGTAATGTATATTATATATATTATA TATGTAATGTATATTATATATAATATATGTAATGTATATTATATATGTAA TATATATTATATATATTATATATGTAATATATATTATATATATTATATAT GTAATATATATAATATATATTATATATGTAATATATATTATATATATTAT ATATGTAATATATATTATATATATTATATATGTAATATATATTATATATA TTATATATGTAATATATATTATATA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
DYNC2I1_chr7_158851558_158951189	158917089	T T	TACACGCT others(942): Show TACACGCTGGTTGAGATTAAGGATGATTGTGAAACGTCGACACGCTGGTT GACATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGACATTAAGGAT GATTGTGAAACGTCTACACGCTGGTTGAGATTAAGGATGATTGTGAAACG TCGACACGCTGGTTGACATTAAGGATGATTGTGAAACCTCGACACGCTGG TTGACATTTAGGATGATTGTGAAACCTCGACACGGTGGTTGAGATTAAGG ATGATTGTGAAACGTCGACACGCTGGTTGACATTAAGGATGATTGTGAAA CCTCGACACGCTGGTTGAGATTAAGGATGATTGTGAAATGTTGACACGTG GTTGACATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGACATTAAG GATGATTGTGAAACGTCGACACGCTGGTTGACATTAAGGATGATTGTGAA ACGTCGACACGCTGGTTGAGATTAAGGATGATTGTGAAACCTCGACACGG TGGTTGAGATTAAGGATGATTGTGAAACGTCTACACGCTGGTTGACATTA AGGATGATTGTGAAACGTCTACACGCTGGTTGACATTAAGGATGATTGTG AAACGTCGACACGCTGGTTGACATTAAGGATGATTGTGAAACGTTGACAC GCTGGTTGACATTAAGGATGATTGTGAAACGTCTACACGCTGGTTGAGAT TAAGGATGATTGTGAAACGTCGACACGCTGGTTGACATTAAGGATGATTG TGAAACGTCGACACGCTGGTTGACATTAAGGATGATTGTGAAACGTCTAC ACGCTGGTTGAGATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGAC ATTAAGGATGATTGTGAAACCTCGACACGCTGGTTGACATTTAGGATGAT TGTGAAACCTCGACACGGTGGTTGAGATTAAGGATGATTGTGAAACGTCG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0017 a0017	a0017c0024 a0017c0024	a0017c0024t0001 a0017c0024t0001	a0017c0024t0001g0271 a0017c0024t0001g0271	1	274	0.0037	949	c.179 others(968): Show c.1792-1638_1792-1637insGATTAAGGATGATTGTGAAACGTCGA CACGCTGGTTGACATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGA CATTAAGGATGATTGTGAAACGTCTACACGCTGGTTGAGATTAAGGATGA TTGTGAAACGTCGACACGCTGGTTGACATTAAGGATGATTGTGAAACCTC GACACGCTGGTTGACATTTAGGATGATTGTGAAACCTCGACACGGTGGTT GAGATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGACATTAAGGAT GATTGTGAAACCTCGACACGCTGGTTGAGATTAAGGATGATTGTGAAATG TTGACACGTGGTTGACATTAAGGATGATTGTGAAACGTCGACACGCTGGT TGACATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGACATTAAGGA TGATTGTGAAACGTCGACACGCTGGTTGAGATTAAGGATGATTGTGAAAC CTCGACACGGTGGTTGAGATTAAGGATGATTGTGAAACGTCTACACGCTG GTTGACATTAAGGATGATTGTGAAACGTCTACACGCTGGTTGACATTAAG GATGATTGTGAAACGTCGACACGCTGGTTGACATTAAGGATGATTGTGAA ACGTTGACACGCTGGTTGACATTAAGGATGATTGTGAAACGTCTACACGC TGGTTGAGATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGACATTA AGGATGATTGTGAAACGTCGACACGCTGGTTGACATTAAGGATGATTGTG AAACGTCTACACGCTGGTTGAGATTAAGGATGATTGTGAAACGTCGACAC GCTGGTTGACATTAAGGATGATTGTGAAACCTCGACACGCTGGTTGACAT TTAGGATGATTGTGAAACCTCGACACGGTGGTTGAGATTAAGGATGATTG TGAAACGTCGACACGCTGGTTGA	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2I1_chr7_158851558_158951189	158917089	T T	TACACGCT others(942): Show TACACGCTGGTTGAGATTAAGGATGATTGTGAAACGTCGACACGCTGGTT GACATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGACATTAAGGAT GATTGTGAAACGTCTACACGCTGGTTGAGATTAAGGATGATTGTGAAACG TCGACACGCTGGTTGACATTAAGGATGATTGTGAAACCTCGACACGCTGG TTGACATTTAGGATGATTGTGAAACCTCGACACGGTGGTTGAGATTAAGG ATGATTGTGAAACGTCGACACGCTGGTTGACATTAAGGATGATTGTGAAA CCTCGACACGCTGGTTGAGATTAAGGATGATTGTGAAATGTTGACACGTG GTTGACATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGACATTAAG GATGATTGTGAAACGTCGACACGCTGGTTGACATTAAGGATGATTGTGAA ACGTCTACACGCTGGTTGACATTTAGGATGATTGTGAAACCTCGACACGG TGGTTGAGATTAAGGATGATTGTGAAACGTCTACACGCTGGTTGACATTA AGGATGATTGTGAAACGTCTACACGCTGGTTGACATTAAGGATGATTGTG AAACGTCGACACGCTGGTTGACATTAAGGATGATTGTGAAACGTTGACAC GCTGGTTGACATTAAGGATGATTGTGAAACGTCTACACGCTGGTTGAGAT TAAGGATGATTGTGAAACGTCGACACGCTGGTTGACATTAAGGATGATTG TGAAACGTCGACACGCTGGTTGACATTAAGGATGATTGTGAAACGTCTAC ACGCTGGTTGAGATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGAC ATTAAGGATGATTGTGAAACCTCGACACGCTGGTTGACATTTAGGATGAT TGTGAAACCTCGACACGGTGGTTGAGATTAAGGATGATTGTGAAACGTCG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01934.hp1 HG01981.hp1 others(2): Show HG01433.hp1 HG01934.hp1 HG01981.hp1 HG02148.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 others(2): Show a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273	5	274	0.0183	949	c.179 others(968): Show c.1792-1638_1792-1637insGATTAAGGATGATTGTGAAACGTCGA CACGCTGGTTGACATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGA CATTAAGGATGATTGTGAAACGTCTACACGCTGGTTGAGATTAAGGATGA TTGTGAAACGTCGACACGCTGGTTGACATTAAGGATGATTGTGAAACCTC GACACGCTGGTTGACATTTAGGATGATTGTGAAACCTCGACACGGTGGTT GAGATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGACATTAAGGAT GATTGTGAAACCTCGACACGCTGGTTGAGATTAAGGATGATTGTGAAATG TTGACACGTGGTTGACATTAAGGATGATTGTGAAACGTCGACACGCTGGT TGACATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGACATTAAGGA TGATTGTGAAACGTCTACACGCTGGTTGACATTTAGGATGATTGTGAAAC CTCGACACGGTGGTTGAGATTAAGGATGATTGTGAAACGTCTACACGCTG GTTGACATTAAGGATGATTGTGAAACGTCTACACGCTGGTTGACATTAAG GATGATTGTGAAACGTCGACACGCTGGTTGACATTAAGGATGATTGTGAA ACGTTGACACGCTGGTTGACATTAAGGATGATTGTGAAACGTCTACACGC TGGTTGAGATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGACATTA AGGATGATTGTGAAACGTCGACACGCTGGTTGACATTAAGGATGATTGTG AAACGTCTACACGCTGGTTGAGATTAAGGATGATTGTGAAACGTCGACAC GCTGGTTGACATTAAGGATGATTGTGAAACCTCGACACGCTGGTTGACAT TTAGGATGATTGTGAAACCTCGACACGGTGGTTGAGATTAAGGATGATTG TGAAACGTCGACACGCTGGTTGA	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
GPR35_chr2_240620480_240638159	240625974	T T	TGGGGGTC others(942): Show TGGGGGTCTCAGAGTGGGGTGAGGCTGTGACGGGGGTTCTCAGAGCGAGG TGAGGCTGTGACGGGGTCTCAGAGCGAGGTGAGGCTGTGATGGGGGTCTC AGAGTGGGGTGAAGCTCTGATGGGGTCTCAGAGCGGGGTGAGGCTGTGAT GGGGTCTCAGAGTGGGGTGAGGCTGTGACGGGGGTTCTCAGAGTGAGGTG AGGCTGTGACGGGGTCTCAGAGCGAGGTGAGGCTGTGATGGGGGTCTCAG AGTGGGGTGAAGCTCTGATGGGGTCTCAGAGCGGGGTGAGGCTGTGATGG GGTCTCAGAGTGGGGTGAGGCTGTGACGGGGGTTCTCAGAGCGAGGTGAG GCTGTGACGGGGTCTCAGAGCGAGGTGAGGCTGTGACGGGGTCTCAGAGT GGGGTGAGGCTGTGATGGGGGTCTCAGAGCGGGGTGAGGGGGGTGAGGCT GTGATGGGGGTCTCAGAGCGGGGTGAAGCTCTGATGGGGTCTCAGAGCGG GGTGAGGCTGTGATGGGTTCTCAGAGCGGGGTGAGGCTATGACGGGGTCT CAGAGCGGGGCGAGTCTCTGACGGGGTCTCAGAGCGGGGCGAGGCTCTGA CGGGGTCTCAGAGCGGGGCGAGGCTCTGACGGGGTCTCAGAGCGGGGCGA GGCTCTGACGGGGTCTCAGAGCGGGGCGAGGCTGTGACGGGGTCTCAGAG TGGGGCGAGGCTGTGACGGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGG GTCTCAGAGCGGGGTGAAGCTCTGATGGGGTCTCAGAGCGGGGCGAGGCT GTGAGGGGTTCTCAGAGCGGGGCGAGGCTGTGACGGGGTCTCAGAGCGGG GCGAGGCTGTGACGGGGTCTCAGAGCGGGGCGAGGCTGTGACGGGGTCTC AGAGCGGGGTGAGGCTCTGACGGGGTCTCAGAGCGGGGTGAGGCTCTGAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0055	1	400	0.0025	949	c.-5+ others(962): Show c.-5+409_-5+410insGGTCTCAGAGTGGGGTGAGGCTGTGACGGGGG TTCTCAGAGCGAGGTGAGGCTGTGACGGGGTCTCAGAGCGAGGTGAGGCT GTGATGGGGGTCTCAGAGTGGGGTGAAGCTCTGATGGGGTCTCAGAGCGG GGTGAGGCTGTGATGGGGTCTCAGAGTGGGGTGAGGCTGTGACGGGGGTT CTCAGAGTGAGGTGAGGCTGTGACGGGGTCTCAGAGCGAGGTGAGGCTGT GATGGGGGTCTCAGAGTGGGGTGAAGCTCTGATGGGGTCTCAGAGCGGGG TGAGGCTGTGATGGGGTCTCAGAGTGGGGTGAGGCTGTGACGGGGGTTCT CAGAGCGAGGTGAGGCTGTGACGGGGTCTCAGAGCGAGGTGAGGCTGTGA CGGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGGGTCTCAGAGCGGGGTG AGGGGGGTGAGGCTGTGATGGGGGTCTCAGAGCGGGGTGAAGCTCTGATG GGGTCTCAGAGCGGGGTGAGGCTGTGATGGGTTCTCAGAGCGGGGTGAGG CTATGACGGGGTCTCAGAGCGGGGCGAGTCTCTGACGGGGTCTCAGAGCG GGGCGAGGCTCTGACGGGGTCTCAGAGCGGGGCGAGGCTCTGACGGGGTC TCAGAGCGGGGCGAGGCTCTGACGGGGTCTCAGAGCGGGGCGAGGCTGTG ACGGGGTCTCAGAGTGGGGCGAGGCTGTGACGGGGTCTCAGAGTGGGGTG AGGCTGTGATGGGGGTCTCAGAGCGGGGTGAAGCTCTGATGGGGTCTCAG AGCGGGGCGAGGCTGTGAGGGGTTCTCAGAGCGGGGCGAGGCTGTGACGG GGTCTCAGAGCGGGGCGAGGCTGTGACGGGGTCTCAGAGCGGGGCGAGGC TGTGACGGGGTCTCAGAGCGGGGTGAGGCTCTGACGGGGTCTCAGAGCGG GGTGAGGCTCTGACGGG	GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
GPR35_chr2_240620480_240638159	240625974	T T	TGGGGGTC others(942): Show TGGGGGTCTCAGAGTGGGGTGAGGCTGTGACGGGGGTTCTCAGAGCGAGG TGAGGCTGTGACGGGGTCTCAGAGCGAGGTGAGGCTGTGATGGGGGTCTC AGAGTGGGGTGAAGCTCTGATGGGGTCTCAGAGCGGGGTGAGGCTGTGAT GGGGTCTCAGAGTGGGGTGAGGCTGTGACGGGGGTTCTCAGAGTGAGGTG AGGCTGTGACGGGGTCTCAGAGCGAGGTGAGGCTGTGATGGGGGTCTCAG AGTGGGGTGAAGCTCTGATGGGGTCTCAGAGCGGGGTGAGGCTGTGATGG GGTCTCAGAGTGGGGTGAGGCTGTGACGGGGGTTCTCAGAGCGAGGTGAG GCTGTGACGGGGTCTCAGAGCGAGGTGAGGCTGTGACGGGGTCTCAGAGT GGGGTGAGGCTGTGATGGGGGTCTCAGAGCGGGGTGAGGGGGGTGAGGCT GTGATGGGGGTCTCAGAGCGGGGTGAAGCTCTGATGGGGTCTCAGAGCGG GGTGAGGCTGTGATGGGTTCTCAGAGCGGGGTGAGGCTATGACGGGGTCT CAGAGCGGGGTGAGTCTCTGACGGGGTCTCAGAGCGGGGCGAGGCTCTGA CGGGGTCTCAGAGCGGGGCGAGGCTCTGACGGGGTCTCAGAGCGGGGCGA GGCTCTGACGGGGTCTCAGAGCGGGGCGAGGCTGTGACGGGGTCTCAGAG TGGGGCGAGGCTGTGACGGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGG GTCTCAGAGTGGGGTGAAGCTCTGATGGGGTCTCAGAGCGGGGCGAGGCT GTGAGGGGTTCTCAGAGCGGGGCGAGGCTGTGACGGGGTCTCAGAGCGGG GCGAGGCTGTGACGGGGTCTCAGAGCGGGGCGAGGCTGTGACGGGGTCTC AGAGCGGGGTGAGGCTCTGACGGGGTCTCAGAGCGGGGTGAGGCTCTGAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	400	0.0025	949	c.-5+ others(962): Show c.-5+409_-5+410insGGTCTCAGAGTGGGGTGAGGCTGTGACGGGGG TTCTCAGAGCGAGGTGAGGCTGTGACGGGGTCTCAGAGCGAGGTGAGGCT GTGATGGGGGTCTCAGAGTGGGGTGAAGCTCTGATGGGGTCTCAGAGCGG GGTGAGGCTGTGATGGGGTCTCAGAGTGGGGTGAGGCTGTGACGGGGGTT CTCAGAGTGAGGTGAGGCTGTGACGGGGTCTCAGAGCGAGGTGAGGCTGT GATGGGGGTCTCAGAGTGGGGTGAAGCTCTGATGGGGTCTCAGAGCGGGG TGAGGCTGTGATGGGGTCTCAGAGTGGGGTGAGGCTGTGACGGGGGTTCT CAGAGCGAGGTGAGGCTGTGACGGGGTCTCAGAGCGAGGTGAGGCTGTGA CGGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGGGTCTCAGAGCGGGGTG AGGGGGGTGAGGCTGTGATGGGGGTCTCAGAGCGGGGTGAAGCTCTGATG GGGTCTCAGAGCGGGGTGAGGCTGTGATGGGTTCTCAGAGCGGGGTGAGG CTATGACGGGGTCTCAGAGCGGGGTGAGTCTCTGACGGGGTCTCAGAGCG GGGCGAGGCTCTGACGGGGTCTCAGAGCGGGGCGAGGCTCTGACGGGGTC TCAGAGCGGGGCGAGGCTCTGACGGGGTCTCAGAGCGGGGCGAGGCTGTG ACGGGGTCTCAGAGTGGGGCGAGGCTGTGACGGGGTCTCAGAGTGGGGTG AGGCTGTGATGGGGGTCTCAGAGTGGGGTGAAGCTCTGATGGGGTCTCAG AGCGGGGCGAGGCTGTGAGGGGTTCTCAGAGCGGGGCGAGGCTGTGACGG GGTCTCAGAGCGGGGCGAGGCTGTGACGGGGTCTCAGAGCGGGGCGAGGC TGTGACGGGGTCTCAGAGCGGGGTGAGGCTCTGACGGGGTCTCAGAGCGG GGTGAGGCTCTGACGGG	GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(942): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT AATATATATTTTATATATATTATATATTTTATATATAATATATATTTTAT ATATAATATATATTTTATATATATTATATATTTTATATATAATATATATT TTATATATATTATATATTTTATATATAATATATATATATTATATATAATA TATATTATATATAATATATATATTATATAAAATATATAATATATATCTTA TATATATCATATATTTTATATATATCATATATTTTATATATATCATATAT TTTATATATAATATATATTATATATACATTATATAATATATATTATATTA TATATAATATATTATATAATATATATTATATATTATACGTAATATATAAT GTATATTATATATAATATACATTATATAATGTATATTATATATAATATAC ATTATATAATGTATATTATATATAATATACATTGTATACAATGTATATTA TATATAATATACATTGTATATAATGTATATTAAATATATATATAATATAT ACATGTATATATAATGTATATATTATATAATATATACATTATATACTAAT GTATATATTATATATAATATACATTATATATAATGTATATATTATATATA ATATACATTATATACAATGTATATATTATATATAATATACATTATATACA ATGTATACATTATATAATGTATATATTACATATAATATACATTATATATA ATGTATATATTATATGTAATATACACATTATATATAATGTATATATTACA TGTAATATATACATTATATATAATGTATATTATATGTAATATATACATTA TATATAATGTATATTATATGTAATATATACATTATATATAATGTATATTA TATGTAATATATACATTATATAATGTATACATTGTATATAATGTATATTA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	350	0.0029	949	c.94- others(962): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATAATATATATTTTATATATATTATATATTTTATA TATAATATATATTTTATATATAATATATATTTTATATATATTATATATTT TATATATAATATATATTTTATATATATTATATATTTTATATATAATATAT ATATATTATATATAATATATATTATATATAATATATATATTATATAAAAT ATATAATATATATCTTATATATATCATATATTTTATATATATCATATATT TTATATATATCATATATTTTATATATAATATATATTATATATACATTATA TAATATATATTATATTATATATAATATATTATATAATATATATTATATAT TATACGTAATATATAATGTATATTATATATAATATACATTATATAATGTA TATTATATATAATATACATTATATAATGTATATTATATATAATATACATT GTATACAATGTATATTATATATAATATACATTGTATATAATGTATATTAA ATATATATATAATATATACATGTATATATAATGTATATATTATATAATAT ATACATTATATACTAATGTATATATTATATATAATATACATTATATATAA TGTATATATTATATATAATATACATTATATACAATGTATATATTATATAT AATATACATTATATACAATGTATACATTATATAATGTATATATTACATAT AATATACATTATATATAATGTATATATTATATGTAATATACACATTATAT ATAATGTATATATTACATGTAATATATACATTATATATAATGTATATTAT ATGTAATATATACATTATATATAATGTATATTATATGTAATATATACATT ATATATAATGTATATTATATGTAATATATACATTATATAATGTATACATT GTATATAATGTATATTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(942): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT AATATATATTTTATATATATTATATATTTTATATATAATATATATTTTAT ATATAATATATATTTTATATATATTATATATTTTATATATAATATATATT TTATATATATTATATATTTTATATATAATATATATATATTATATATAATA TATATTATATATAATATATATATTATATAAAATATATAATATATATCTTA TATATATCATATATTTTATATATATCATATATTTTATATATATCATATAT TTTATATATAATATATATTATATATACATTATATAATATATATTATATTA TATATAATATATTATATAATATATATTATATATTATACGTAATATATAAT GTATATTATATATAATATACATTATATAATGTATATTATATATAATATAC ATTATATAATGTATATTATATATAATATACATTGTATACAATGTATATTA TATATAATATACATTGTATATAATGTATATTACATATAATATACATTATA TAATGTATATTACATATAATATACATTGTATATAATGTATATTACATATA ATATACATTGTATATAATGTATATTACATATAATATACATTATATATAAT GTGTATATTACATGTAATATACATTATATATAATGTATATTATATGTAAT ATATACATTATATAATGTGTATATTATATGTAATATATACATTATATATA ATGTATATATTATATGTAATATATACATTATATATAATGTATATATTACA TGTAATATATACATTATATATAATGTATATTATATGTAATATATACATTA TATATAATGTATATTATATGTAATATATACATTATATATAATGTATATTA TATGTAATATATACATTATATAATGTATACATTGTATATAATGTATATTA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19012.hp2 NA19004.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0223 a0001c0001t0001g0164 a0001c0001t0001g0223	2	350	0.0057	949	c.94- others(962): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATAATATATATTTTATATATATTATATATTTTATA TATAATATATATTTTATATATAATATATATTTTATATATATTATATATTT TATATATAATATATATTTTATATATATTATATATTTTATATATAATATAT ATATATTATATATAATATATATTATATATAATATATATATTATATAAAAT ATATAATATATATCTTATATATATCATATATTTTATATATATCATATATT TTATATATATCATATATTTTATATATAATATATATTATATATACATTATA TAATATATATTATATTATATATAATATATTATATAATATATATTATATAT TATACGTAATATATAATGTATATTATATATAATATACATTATATAATGTA TATTATATATAATATACATTATATAATGTATATTATATATAATATACATT GTATACAATGTATATTATATATAATATACATTGTATATAATGTATATTAC ATATAATATACATTATATAATGTATATTACATATAATATACATTGTATAT AATGTATATTACATATAATATACATTGTATATAATGTATATTACATATAA TATACATTATATATAATGTGTATATTACATGTAATATACATTATATATAA TGTATATTATATGTAATATATACATTATATAATGTGTATATTATATGTAA TATATACATTATATATAATGTATATATTATATGTAATATATACATTATAT ATAATGTATATATTACATGTAATATATACATTATATATAATGTATATTAT ATGTAATATATACATTATATATAATGTATATTATATGTAATATATACATT ATATATAATGTATATTATATGTAATATATACATTATATAATGTATACATT GTATATAATGTATATTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(942): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT AATATATATTTTATATATATTATATATTTTATATATAATATATATTTTAT ATATAATATATATTTTATATATATTATATATTTTATATATAATATATATT TTATATATATTATATATTTTATATATAATATATATATATTATATATAATA TATATTATATATAATATATATATTATATAAAATATATAATATATATCTTA TATATATCATATATTTTATATATATCATATATTTTATATATATCATATAT TTTATATATAATATATATTATATATACATTATATAATATATATTATATTA TATATAATATATTATATAATATATATTATATATTATACGTAATATATAAT GTATATTATATATAATATACATTATATAATGTATATTATATATAATATAC ATTATATACAATGTATATTATATATAATATACATTGTATATAATGTATAT TACATATAATATACATTATATAATGTATATTACATATAATATACATTATA TAATGTATATTACATATAATATACATTGTATATAATGTATATTACATATA ATATACATTGTATATAATGTATATTACATATAATATACATTGTATATAAT GTGTATATTACATGTAATATACATTATATATAGTGTATATTATATGTAAT ATATACATTATATAATGTGTATATTATATGTAATATATACATTATATATA ATGTATATATTATATGTAATATATACATTATATATAATGTATATATTACA TGTAATATATACATTATATATAATGTATATTATATGTAATATATACATTA TATATAATGTATATTATATGTAATATATACATTATATATAATGTATATTA TATGTAATATATACATTATATAATGTATACATTGTATATAATGTATATTA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	350	0.0029	949	c.94- others(962): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATAATATATATTTTATATATATTATATATTTTATA TATAATATATATTTTATATATAATATATATTTTATATATATTATATATTT TATATATAATATATATTTTATATATATTATATATTTTATATATAATATAT ATATATTATATATAATATATATTATATATAATATATATATTATATAAAAT ATATAATATATATCTTATATATATCATATATTTTATATATATCATATATT TTATATATATCATATATTTTATATATAATATATATTATATATACATTATA TAATATATATTATATTATATATAATATATTATATAATATATATTATATAT TATACGTAATATATAATGTATATTATATATAATATACATTATATAATGTA TATTATATATAATATACATTATATACAATGTATATTATATATAATATACA TTGTATATAATGTATATTACATATAATATACATTATATAATGTATATTAC ATATAATATACATTATATAATGTATATTACATATAATATACATTGTATAT AATGTATATTACATATAATATACATTGTATATAATGTATATTACATATAA TATACATTGTATATAATGTGTATATTACATGTAATATACATTATATATAG TGTATATTATATGTAATATATACATTATATAATGTGTATATTATATGTAA TATATACATTATATATAATGTATATATTATATGTAATATATACATTATAT ATAATGTATATATTACATGTAATATATACATTATATATAATGTATATTAT ATGTAATATATACATTATATATAATGTATATTATATGTAATATATACATT ATATATAATGTATATTATATGTAATATATACATTATATAATGTATACATT GTATATAATGTATATTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
JAKMIP3_chr10_132060946_132189858	132173157	T T	TCCCCCTC others(942): Show TCCCCCTCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCCCTCCCCCTCT GTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCTCCCCCCTCTCTCTCC CCCTCTCCCCTCCCCCTCCCCCCTCTCTCTCCCCCTCTCCCCTCCCCCTC CCCCCTCTCCCCTCCCCCTCTCTCCCCCTCCCCCTCCCCCTCCCCCCTCT CCCCTCCCCCTCCCCCCTCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCC TCTCCCATCCCCCTCCCCCCTCTCCCATCCCCCTCCCCTTCCCCTCCCCC CTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCCCCCTC CCCCCTCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCCCCT CCTTCCCTCTCCCCCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCT CCCCCTCCTTCCCTCTCCCCCTCCCCCTCCCCCTCCTTCCCTCTCCCCCT CCCCATCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCT CCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCC CTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCCCCTCCTTCC CTCTCTCCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCCCCCC TCCTTCCCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCTCCTT CCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCCCCCCCTCCTTCCCT CTGTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCTTCCCC CTGTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCCTCCTTCC CTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCCTCCTTCC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0013 a0004c0014t0013	a0004c0014t0013g0147 a0004c0014t0013g0147	1	158	0.0063	949	c.11 others(970): Show c.1103+4125_*1103+4126insCCCCTCCCCCTCCTTCCCTCTCTC TCTCTCCCCCTCCCCTCCCCCTCTGTCTCCCCCTCCCCCCTCTCTCTCCC CCTCCCCCTCCCCCCTCTCTCTCCCCCTCTCCCCTCCCCCTCCCCCCTCT CTCTCCCCCTCTCCCCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCC CCTCCCCCTCCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCTCTCCCCTC CCCCCTCTCCCCTCCCCCTCCCCCTCTCCCATCCCCCTCCCCCCTCTCCC ATCCCCCTCCCCTTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCTCTCT CCCCCTCCCCCCTCTCTCCCCCTCCCCCCTCTCTCCCCCTCCCCCTCCTT CCCTCTCCCCCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCCC CTCCTTCCCTCTCCCCCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCC CTCCCCCTCCTTCCCTCTCCCCCTCCCCATCCTTCCCTCTCCCCCTCCCC CTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTT CCCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCT CCCCCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTC CCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCCCCCCCTCCTTC CCTCTCTCTCTCTCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCT CTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCTCCTTCCCT CTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCCTCCTTCCCC CTGTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCTTCCCC CTGTCTCTCTCTCCCCCTCCTTCCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIAA0930_chr22_45187244_45245894	45228775	C C	CCCCCAAC others(942): Show CCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCCAACC ACCAAACACTCACCCGAGAGATCCCTCTCCACCCCCCAACCACCAAACAC TCACCTGAGAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCCGAG AGATCCCTCTCCACCCCCCAACCACCAAACACTCACCTGAGAGATCCCTC TCCACCCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCC CAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCCAACCACCA AACACTCACCCGAGAGATCCCTCTCCACCCCCCAACCACCAAACACTCAC CTGAGAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCTGAGAGAT CCCTCTCCACCCCCCAACCACCAAACACTCACCCGAGAGATCCCTCTCCA CCCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCCAAC CACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCACCACTC ACCCGAAAGATCCCTCTTCACCCCCCAACCACCACTCACCCGAAAGATCC CTCCCCATCCCCCCCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAA CCACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCACCACTCACCCGA AAGATCCCTCTCCACCCCCACACCACCAAACACTCACCCGAAAGATCCCT CTCCACCCCCCCACCACCAAACACTCACCCGAAAGATCCCTCTCCACCCC CCAACCACCAAACACTCACCCGAGAGATCCCTCTCCACCCCCCAACCACC AAACACTCACCTGAGAGATCCCTCTCCACCCCCCAACCACTCACCTGAGA GATCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGATCCCTCTCCA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0282 a0001c0001t0013g0282	1	398	0.0025	949	c.64+ others(966): Show c.64+11864_64+11865insTGGAGAGGGATCTTTCGGGTGAGTGGTG ATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGGTTGGGGGGTGGAGA GGGATCTCTCAGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTCT CGGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGT GTTTGGTGGTGGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGG TGTGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGA GAGGGATCTCTCAGGTGAGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGT GAGTGGTGGGGGGGATGGGGAGGGATCTTTCGGGTGAGTGGTGGTTGGGG GGTGAAGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGA TCTCTCAGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTCTCAGG TGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTCTCGGGTGAGTGTTT GGTGGTTGGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTTGG GGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTTGGGGGGTGGAG AGGGATCTCTCGGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTC TCAGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTCTCAGGTGAG TGTTTGGTGGTTGGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTG GTTGGGGGGTGGAGAGGGATCTCTCGGGTGAGTGTTTGGTGGTTGGGGGG TGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGG ATCTCTCGGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTCTCAG GTGAGTGTTTGGTGGTTGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCCCT others(942): Show CCTCCCCTCCTCTCTCCTCCTCTGTCTCCTCCTCCCCTCCTCTCCTCTCT CCCCTCCCCTCCTCCTCCTCCCCTCCCTCCCTCCCCCTCCTCGCTCCTCC TCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCACTCCCTCCCTCCTCT CTCCTCACCCCTCCCCTCCCTCCATCCTCTCTCCTCCCCTCCCCTCCCGC TCCTCTCTCCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCC CTCCCCTCTCTCCTCCTCCCTCCCCTCCCCCTCCCCTCCTCTCTCCTCCC CCTCCCCTCCCCCCTCTCCCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGC TCACCGCTCCCCTCTCCTCCACTCCTCTCCCCTCCCTTCCCCTCTCCTCC CCTCCTCCTCCCCTCCCTTCCCCCTCTCCTCCCCCTCCCTCCTCCCCTCC TCTCTCCTCCCCTCCCCCTCCCCTCTCTCCTCCGCTCCCCTCCCCCTCTC CTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCC CTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCT CTCTCCTCCCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCC TTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCTGCTCCT CTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTC CTCCGCTCCCCTCCCCTCTCCTCCACTCCTCTCCCCTCTCCTCCACTCCT CTCCCCTCCCCTCCTCTCTCCTCCACTCCTCTCCCCTCCTCTCCTCTCTC CTCCCCTCCCCTCTCCTCCCCTCCCCACCCCTCCCCTCCCCTCCTTTCTC CTCCCCTCCCCACGGCTCCCCTCCCCTCCTTTCTCCTCCCTTGCCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	318	0.0031	949	c.-49 others(960): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGAGGAGTGGAGGAGA GGGGAGGGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGA GGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGA GCGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGGAGGGGAGCGGAGGAGAGAGGGGAGG GGGAGGGGAGGAGAGAGGAGGGGAGGAGGGAGGGGGAGGAGAGGGGGAAG GGAGGGGAGGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGTGGAG GAGAGGGGAGCGGTGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGGGA GAGGGGGGAGGGGAGGGGGAGGAGAGAGGAGGGGAGGGGGAGGGGAGGGA GGAGGAGAGAGGGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGA GGGGAGGGAGAGAGGAGCGGGAGGGGAGGGGAGGAGAGAGGATGGAGGGA GGGGAGGGGTGAGGAGAGAGGAGGGAGGGAGTGGGAGGGGAGGAGAGAGG AGGGGAGGGGAGGGGAGGAGGAGCGAGGAGGGGGAGGGAGGGAGGGGAGG AGGAGGAGGGGAGGGGAGAGAGGAGAGGAGGGGAGGAGGAGACAGAGGAG GAGAGAGGAGGGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MOCS1_chr6_39899170_39939462	39926745	G G	GAAGGAGG others(942): Show GAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAG AAGGGGAGGGGCAGGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAA GGGGCGGGGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAG GGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGG GGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGGGAGGGGAGGGGAGGGGATGGGAGGGGAGGGGAGGGGGGAGGGGG AGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGG GAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGG GAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGGGAGG GAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGAGGAGGGAG GGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGG AAGGGAGGGAGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGA GGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGG GAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGGT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0019 a0003c0003t0019	a0003c0003t0019g0081 a0003c0003t0019g0081	1	272	0.0037	949	c.250 others(964): Show c.250+583_250+584insACCCTCCCTCCCCCTCCCCTCCCTCCCCCT CCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCCC TCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCCT CCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCT CCCCCTCCCCCTCCACTCCCCTCCCTCCTCCCTCCCCCTCCACTCCCCTC CCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTCT CTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCTCT CTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCC TCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCATCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCT CCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCACCCCTTTCCCCC TTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCT TTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCC TCCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTC CCCCTCCTTCCCCCTCCTT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MROH1_chr8_144143016_144266926	144233363	C C	CCTCCCCC others(942): Show CCTCCCCCGCAGCTCCTGCACCCACCATCAACCTTCCCTCCCCCGCAGCT CCTGCACCCACCATCAACCTTCCCTCCCCCGCAGCTCTGCACCCCACCAT CCGCCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCC CCCGCAGCTCCTGCACCCCACCATCCACCTTCCCTCTCCCACAGCTCCTG CACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCAC CTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGC AGCTCCTGCACCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCA CCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCC TCCCCCGCAGCTCCTGTACCCCACCATCCACCTTCCCTCCCCCGCAGCTC CTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCCACCAT CCACCTTCCCTCCCCCGCAGCTCCTGTACCCCACCATCCACCTTCCCTCC CCCGCAGCTCCTGCACCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGC ACCCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCAC CTTCCCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCG CAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACC CACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTT CTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAG CTCCTGCACCCCACTATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCA CCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02572.hp2 HG01975.hp1 HG02572.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0129 a0003c0003t0001g0132 a0003c0003t0001g0129 a0003c0003t0001g0132	2	140	0.0143	949	c.133 others(968): Show c.1339-5365_1339-5364insAACCTTCCCTCCCCCGCAGCTCCTGC ACCCACCATCAACCTTCCCTCCCCCGCAGCTCTGCACCCCACCATCCGCC TTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGC AGCTCCTGCACCCCACCATCCACCTTCCCTCTCCCACAGCTCCTGCACCC ACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCC CTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTC CTGCACCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCACCATC CACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCC CGCAGCTCCTGTACCCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCA CCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCCACCATCCACC TTCCCTCCCCCGCAGCTCCTGTACCCCACCATCCACCTTCCCTCCCCCGC AGCTCCTGCACCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCC ACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCC CTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCT CCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCACCA TCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTC CCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCT GCACCCCACTATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATC CACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCC CCGCAGCTCCTGCACCCACCATC	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	14/43		INFO_REALIGN_3_PRIME	chr8	TogoVar

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