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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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
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(818): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGAGGAA AGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGG GAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAG GGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGG AGGGAGGAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAAA GGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAA AGGAGGGAGGGAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGA GGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGG AAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGA AGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAG GAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAA AGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGG GAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0164 a0001c0001t0008g0164	1	322	0.0031	825	c.597 others(842): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTT CCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCT TCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCC TCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTC CCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCT TCCTTTCCTCCCTCCCTCCCTCCCTCCTTTTCTCCCTCCCTCCCTCCTTT CCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTT TCCTCCCTCCCTCCCTCTTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCC CTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCT CCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCC TCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCC TCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(818): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAG GGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAG GAAAGGAAGGAGGGAGGAAAGGAAAGCAGGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGAGGGAGGAAAGGAGGGGAGGGAGGGAGGAAAGGAGGGA GGGAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGA AGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGG AGGGAGGGAGGGAGGAAAGGAAGGAGGAGGAAAGGAAGGAGGAGGGGGGG AGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGAAG GAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAA AGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGAGGGAGGGAGGAAAGGAAGGAG GGAGGAAAGGAAGGAGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	322	0.0031	825	c.597 others(842): Show c.597+1546_597+1547insTCCCCCCTCCCTCCTTCCTTTCCTCCCT CCTTCCTTTCCTCCCTCCCTCCTCCTTCCTTTCCTCCCTCCCTCCCTCCT TCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCT TCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCC CCCCCTCCTCCTTCCTTTCCTCCTCCTTCCTTTCCTCCCTCCCTCCCTCC TTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCTTC CTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTTCTCCCTCCCTC CCTCCTTTCCTCCCTCCCTCCCCTCCTTTCCTCCCTCCTCCCTCCCTCCT TCCTTTCCTCCCTCCCTCCCTGCTTTCCTTTCCTCCCTCCTTCCTTTCCT CCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCC CTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCT CCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCT TCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCC TCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
THBS2_chr6_169210785_169258846	169242634	A A	ACTCCCAC others(818): Show ACTCCCACCTTCCCACCACTCCCACCTTCCCACCACTCCCACCTTCCCAC CACTCCCACCTTCCCACCTTCCCATCTTCCCACCTTCCCACCACTCCCAC CTTCCCACCACTCCCACCTTCCCACCACTCCCACCTTCCCACCACTCCCA CCTTCCCACCACTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCA TCTTCCCATCTTCCCACCTTCCCACCACTCCCACCTTCCCACCACTCCCA CCTTCCCACCTTCCCACCTTCCCATCTTCCCACCTTCCCACCACTCCCAC CTTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCATC TTCCCATCTTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACCG CTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACAT TCCCACCTTCCCACATTCCCACCTTCCCACCACTCCCACCTTCCCACCTT CCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCCACCTTC CCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCACATTCC CACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCC ACCTTCCCACCACTCCCACCTTCCCACCTTCCCACCTTCCCACCTTCCCA CTGCTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACCTTCCCAC TGCTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACCACTCCCAC CTTCCCACCTTCCCATCTTCCCACCG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0005 a0001c0018t0005	a0001c0018t0005g0290 a0001c0018t0005g0290	1	396	0.0025	825	c.695 others(840): Show c.695-677_695-676insCGGTGGGAAGATGGGAAGGTGGGAAGGTGG GAGTGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAGCAGTGG GAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAGCAGTGGG AAGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGA ATGTGGGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAA TGTGGGAAGGTGGGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGGAAG GTGGGAATGTGGGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGG TGGGAAGGTGGGAGTGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAATGT GGGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAGCGGT GGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGATGGGAAGATG GGAAGGTGGGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGGAAGGTGG GAGTGGTGGGAAGGTGGGAAGATGGGAAGGTGGGAAGGTGGGAAGGTGGG AGTGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGATGGGAAGATGGG AAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGG AGTGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAGTGGTGGGAAGGTGG GAGTGGTGGGAAGGTGGGAAGATGGGAAGGTGGGAAGGTGGGAGTGGTGG GAAGGTGGGAGTGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAG	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
TMPRSS9_chr19_2355265_2431261	2377604	T T	TCTCCCCT others(818): Show TCTCCCCTCCCCTCTCCCCCCCTCCTCTCTCCCCTCCCCTCTCCCCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTCC TCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCT CTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCC CCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCC TCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCCTCTCCCC TCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTCCCCCTC TCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCCCCCTC CCCCTTCCCCCTCCCCTACCCCTACCCCCCCTGCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCT CTCCCCTCCCCTTCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACC CCTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTC CTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCC CTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCACC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	114	0.0088	825	c.-25 others(844): Show c.-25-12157_-25-12156insCTCCCCTCCCCTCTCCCCCCCTCCTC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCC TCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCT CCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCCCCTCTCCCCTCTC CTCTCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTT CCCCTCTTCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCT CCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTC TCCCCTTCCCTCCCCTCCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCC TTCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCCTCCCCTACCCCTACCC CCCCTGCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCC TCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCC CTCCCCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTTCCCCTTCCCCC CCTCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTC CCCCCTCCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCC TCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCACC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18			chr19	TogoVar
TRIM58_chr1_247852187_247885138	247870417	G G	GCCCAGAA others(818): Show GCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACACCCAGAAGAACGAGGATTAGTATA TTCATGAGCCGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAC ACCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGG CCACCCGTAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCAGTATCAGAGTCACAGCCACCCACAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACAG CCACCCACAGAGCCTGCACCACCACACCCAGAAGAACGAGGATTAGTATA TTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAC GCCCAGAAGAATGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCCGTATCAGAGTCAAGGCCACCCATAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGG CCACCCAGAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAC ACCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0075 a0002c0006t0001g0075	1	454	0.0022	825	c.871 others(842): Show c.871+2462_871+2463insCGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCACACCCAGAAGAACGAGGATTAGTATATTCATGAGCAGT ATCAGAGTCACGGCCACCCGTAGAGCCTGCACCACCACGCCCAGAAGAAC GAGGATTAGTATATTCATGAGCAGTATCAGAGTCACAGCCACCCACAGAG CCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGT ATCAGAGTCACAGCCACCCACAGAGCCTGCACCACCACACCCAGAAGAAC GAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCACGCCCAGAAGAATGAGGATTAGTATATTCATGAGCAGT ATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACGCCCAGAAGAAC GAGGATTAGTATATTCATGAGCCGTATCAGAGTCAAGGCCACCCATAGAG CCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGCCGT ATCAGAGTCACGGCCACCCAGAGAGCCTGCACCACCACGCCCAGAAGAAC GAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCACACCCAGAAGAACGAGGATTAGTATATTCATGAGCAGT ATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACACCCAGAAGAAC GAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCACACCCAGAAGAACGAGGATTAGTATATTCATGAGC	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM58_chr1_247852187_247885138	247870492	A A	ACCCAGAA others(818): Show ACCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACACCCAGAAGAACGAGGATTAGTATA TTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACAG CCACCCACAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCAGTATCAGAGTCACAGCCACCCACAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACGCCCAGAAGAATGAGGATTAGTATA TTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCAAGG CCACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCCGTATCAGAGTCACGGCCACCCAGAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACACCCAGAAGAACGAGGATTAGTATA TTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAC ACCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCATG	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0141 a0003c0002t0002g0141	1	454	0.0022	825	c.871 others(842): Show c.871+2462_871+2463insCGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCACACCCAGAAGAACGAGGATTAGTATATTCATGAGCAGT ATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACGCCCAGAAGAAC GAGGATTAGTATATTCATGAGCAGTATCAGAGTCACAGCCACCCACAGAG CCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGT ATCAGAGTCACAGCCACCCACAGAGCCTGCACCACCACGCCCAGAAGAAC GAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCACGCCCAGAAGAATGAGGATTAGTATATTCATGAGCAGT ATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACGCCCAGAAGAAC GAGGATTAGTATATTCATGAGCCGTATCAGAGTCAAGGCCACCCATAGAG CCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGCCGT ATCAGAGTCACGGCCACCCAGAGAGCCTGCACCACCACGCCCAGAAGAAC GAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCACACCCAGAAGAACGAGGATTAGTATATTCATGAGCAGT ATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACACCCAGAAGAAC GAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCATGCCCAGAAGAACGAGGATTAGTATATTCATGAGC	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM58_chr1_247852187_247885138	247870492	A A	ACCCAGAA others(818): Show ACCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACACCCAGAAGAACGAGGATTAGTATA TTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACAG CCACCCACAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCAGTATCAGAGTCACAGCCACCCACAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACGCCCAGAAGAATGAGGATTAGTATA TTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCAAGG CCACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCCGTATCAGAGTCACGGCCACCCAGAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAC ACCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCATG	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0143 a0003c0002t0002g0143	1	454	0.0022	825	c.871 others(842): Show c.871+2462_871+2463insCGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCACACCCAGAAGAACGAGGATTAGTATATTCATGAGCAGT ATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACGCCCAGAAGAAC GAGGATTAGTATATTCATGAGCAGTATCAGAGTCACAGCCACCCACAGAG CCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGT ATCAGAGTCACAGCCACCCACAGAGCCTGCACCACCACGCCCAGAAGAAC GAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCACGCCCAGAAGAATGAGGATTAGTATATTCATGAGCAGT ATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACGCCCAGAAGAAC GAGGATTAGTATATTCATGAGCCGTATCAGAGTCAAGGCCACCCATAGAG CCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGCCGT ATCAGAGTCACGGCCACCCAGAGAGCCTGCACCACCACGCCCAGAAGAAC GAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGT ATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACACCCAGAAGAAC GAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCATGCCCAGAAGAACGAGGATTAGTATATTCATGAGC	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TWIST2_chr2_238843085_238915534	238871147	A A	ACACACAC others(818): Show ACACACACCACACCCCACACACACCACACCCCATACACACCACACCCCAC ACACACCACACACCCCACACACACCACACAAACCACACACCCTACACACC CCACACACACCACACACACACATCACATACCACACACACATCACATACCA CACACAAACCACACACCACACACACACCCACACACCCCACACACACATCA CATACCACACACAAACCACACACCCAACACACACATCACACACCACACAC CCCACACACACATCACATACCACACACAAACCACACACCCTACACACACC ACACACCCCACACACACATCACACACCACACACACCACACACACCCCACA CACACCACACACACACATCACATACCACACACCCGACACACGCCACACAC ACACCACACACCCCACGCACACATCACATACCACACACAAACCACACACC CTACACACACCACACACCCCACACACACCACACACACACACCACACACAC ATCACATACCACACACAAACCACACACCCCCACACACCCCACACACCCCA CACACACCACACACCCCACACACACACCACACACCCCACACACACATCAC ATACCACACACAAACCACACACCCCACACACCCCACACACCACACACACA CCACACACACATCACATACCACACACAAACCACACACCCTACACGCACCA CACACCCCACACACACCACACACCACACACGCCACACGCGCCACACACAC ACCACACACCCCACGCACACATCACATACCACACACAAACCACACACCCT ACACACCCCACACACCCCACACACAC	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	338	0.0030	825	c.35 others(844): Show c.35+22426_*35+22427insCCCACACACACCACACCCCATACACA CCACACCCCACACACACCACACACCCCACACACACCACACAAACCACACA CCCTACACACCCCACACACACCACACACACACATCACATACCACACACAC ATCACATACCACACACAAACCACACACCACACACACACCCACACACCCCA CACACACATCACATACCACACACAAACCACACACCCAACACACACATCAC ACACCACACACCCCACACACACATCACATACCACACACAAACCACACACC CTACACACACCACACACCCCACACACACATCACACACCACACACACCACA CACACCCCACACACACCACACACACACATCACATACCACACACCCGACAC ACGCCACACACACACCACACACCCCACGCACACATCACATACCACACACA AACCACACACCCTACACACACCACACACCCCACACACACCACACACACAC ACCACACACACATCACATACCACACACAAACCACACACCCCCACACACCC CACACACCCCACACACACCACACACCCCACACACACACCACACACCCCAC ACACACATCACATACCACACACAAACCACACACCCCACACACCCCACACA CCACACACACACCACACACACATCACATACCACACACAAACCACACACCC TACACGCACCACACACCCCACACACACCACACACCACACACGCCACACGC GCCACACACACACCACACACCCCACGCACACATCACATACCACACACAAA CCACACACCCTACACACCCCACACACCCCACACACACCACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UCN3_chr10_5359966_5379692	5370262	C C	CGTGTGTA others(818): Show CGTGTGTATGTGTGTGTATGTGTGTGTGTATGGGTGTGTATATGTGTGTA TGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATATGCGTG TGTATGCGTGTGTGTATATGCGTGTGTATGCGTGTGGGTATATGCGTGTG TATGCGTGTGGGTATATGCGTGTGTGTGTATGCGTGTGTGTATATGTGTG TATGTGTGTGTATATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATCTG TGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTATATGTG TGTATATGTGTGTGTACGTGTGTGTGTGTATGTGTGTATGTGTGTGTATG TGTGTATGTGTGTATGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTG TGTATGTGTGTGTGTGTATATGCGTGTGTATGCGTGTGTGTATATGCGTG TGTATATATGCGTGTGTGTATGCGTGTGTATGCGTGTGTGTATGTGTGTG TATGTGTGTGTATATGCGTGTGTATGCGTGTGTATGGGTGTGTATATGTG TGTGTATGTGTGTGTATGTGTGTGTGTATATGTGTGTATATGTGTGTGTA TATGTGTGTATGTGTGTATATGTGTGTGTATATGCGTGTGTATATGCGTG TGTATGTGCGTGTGTATGTGCGTGTGTATATGCGTGTGTATGTGTGTGTA TGTGTGTGTATATGATGTGTGTGTATATGCGTGTGTATATGCGTGTGTAT ATGCGTGTGTGTGTATGCGTGTGTATATGTGTGTGTATATGTGTGTGTGC GTGTGTGTGTGCGTGTGTGTGCGTGT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0190 a0001c0002t0002g0190	1	468	0.0021	825	c.-6- others(840): Show c.-6-3445_-6-3444insGTGTGTGTATGTGTGTGTGTATGGGTGTGT ATATGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGT GTATATGCGTGTGTATGCGTGTGTGTATATGCGTGTGTATGCGTGTGGGT ATATGCGTGTGTATGCGTGTGGGTATATGCGTGTGTGTGTATGCGTGTGT GTATATGTGTGTATGTGTGTGTATATGTGTGTGTATGTGTGTGTATGTGT GTGTGTATCTGTGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGT GTGTATATGTGTGTATATGTGTGTGTACGTGTGTGTGTGTATGTGTGTAT GTGTGTGTATGTGTGTATGTGTGTATGTGTGTATGTGTGTGTATGTGTGT GTGTATGTGTGTGTATGTGTGTGTGTGTATATGCGTGTGTATGCGTGTGT GTATATGCGTGTGTATATATGCGTGTGTGTATGCGTGTGTATGCGTGTGT GTATGTGTGTGTATGTGTGTGTATATGCGTGTGTATGCGTGTGTATGGGT GTGTATATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATATGTGTGTAT ATGTGTGTGTATATGTGTGTATGTGTGTATATGTGTGTGTATATGCGTGT GTATATGCGTGTGTATGTGCGTGTGTATGTGCGTGTGTATATGCGTGTGT ATGTGTGTGTATGTGTGTGTATATGATGTGTGTGTATATGCGTGTGTATA TGCGTGTGTATATGCGTGTGTGTGTATGCGTGTGTATATGTGTGTGTATA TGTGTGTGTGCGTGTGTGTGTGCGTGTGTGTGCGTGTGTGTGTAT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCB11_chr2_168915781_169036324	168975298	T T	TAGATAAA others(819): Show TAGATAAATATATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATATAAATATTTA TATATTTATAGATAAATGTATAAATATATAAATATTTATATATTTATAGA TAAATATATAAATATATAAATATTTATATATTTATAGATAAATAGATAAA TATATAAATATTTATAGATAAATAGATAAATATATAAATATTTATATATT TATAGATAAATATATAAATATTTATATATTTATCTATAAATATATAAATA TTTATATATTTATAGATAAATATATAA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0240 a0001c0001t0010g0240	1	306	0.0033	826	c.130 others(845): Show c.1308+1278_1308+1279insTTATATATTTATCTATAAATATATAA ATATTTATATATTTATAGATAAATATATAAATATTTATATATTTATCTAT AAATATATAAATATTTATATATTTATCTATTTATCTATAAATATTTATAT ATTTATCTATTTATCTATAAATATATAAATATTTATATATTTATATATTT ATCTATAAATATATAAATATTTATATATTTATACATTTATCTATAAATAT ATAAATATTTATATATTTATACATTTATCTATAAATATAAAAATATTTAT ACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAA AAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCT ATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTAT ACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAA AAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCT ATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTAT ACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAA AAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCT ATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTAT ACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAA AAATATTTATACATTTATCTATAAATATAAAAATATTTATATATTTATCT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ACSF3_chr16_89088852_89161233	89137345	G G	GGGAGGAC others(819): Show GGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCGG GTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGC CCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGA AGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGA GGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAG ATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGG GAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTC ACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGG AGCTTGTGGGGAACGAGTGAGGGGAAGAGCCCCGGGTCCCGGGGAGGACC ACCAGGAGCTCAAGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGA GGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCC TGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCA GGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAG CCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGG AAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTTGTGGGGAAGGACTG AGGGGAAGAGCCCCAGGTCTTGGGAGGACCACCAGGAGCTCATGGGGAAG GATTGAGGGGAAGAGCCCCGGGTCTCA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0080 a0002c0003t0005g0081 a0002c0003t0005g0080 a0002c0003t0005g0081	2	368	0.0054	826	c.136 others(845): Show c.1366+4130_1366+4131insGGGTCCCGGGAGGACCACCAGGAGCT CACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAG GAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACC ACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGA GGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCT CGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCA GGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAG CCCCAGGTCTCGGGAGGACCACCAGGAGCTTGTGGGGAACGAGTGAGGGG AAGAGCCCCGGGTCCCGGGGAGGACCACCAGGAGCTCAAGGGGAAGGATT GAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAA GGATTGAGGGGAAGAGCCCCAGGTCCTGGGAGGACCACCAGGAGCTCACG GGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGC TCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCA GGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGAC CACCAGGAGCTTGTGGGGAAGGACTGAGGGGAAGAGCCCCAGGTCTTGGG AGGACCACCAGGAGCTCATGGGGAAGGATTGAGGGGAAGAGCCCCGGGTC TCAGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCC	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
AP2A2_chr11_920870_1017240	964776	C C	CAAAGGAA others(819): Show CAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGG GCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGC ATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAG GTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGA AGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATC CCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAG GAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGG AAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGA ACGGGTGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGA AAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGT GGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGA TGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAAT AATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATT AAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGG CGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCA TGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGG TGGAAAGCATGGAACGGGCGGGAAATT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp2 HG00558.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0032 a0001c0006t0001g0043 a0001c0001t0001g0032 a0001c0006t0001g0043	2	268	0.0075	826	c.136 others(843): Show c.136+5301_136+5302insGGTGGAAAGCATGGAACGGGCGGGAAAT TAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGG GCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGC ATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAG GTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGA AGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATC CCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAG GAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGTGGG AAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGA ACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGA AAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGT GGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGA TGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAAT AATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATT AAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGG CGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCA TGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGA	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	965181	C C	CGGGAAAT others(819): Show CGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGATGGAAAGCA TGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGG TGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAA GCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCC CAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGG AAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGA AATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAA CGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAA AGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTG GAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGAT GGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATA ATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTA AAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGC GGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCAT GGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGT GGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAG CGTGGAGGTGGAAAGCATGGAACGGGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03209.hp1 HG02717.hp2 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0229 a0001c0002t0004g0253 a0001c0002t0004g0229 a0001c0002t0004g0253	2	268	0.0075	826	c.137 others(843): Show c.137-4949_137-4948insATGGAAAGCATGGAACGGGCGGGAAATT AAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGG CGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCA TGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGG TGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAA GCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCC CAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGG AAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGA AATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAA CGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAA AGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTG GAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGAT GGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATA ATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTA AAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGC GGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCAT GGAACGGGTGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAG	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
ATP9B_chr18_79064394_79383283	79358238	T T	TCTGGGTC others(819): Show TCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTC CGTGTGAGGGACCCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTG TGAGGGACCCTGTGTGAGGGATGCCCTGGGTCTGGAGGTGTCTGTGTGAG GGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGAT GCCCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTG TCTGTGTGAGGGACCCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTCTG TGTGAGGGGTGCCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTG AGGGGTGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTG GAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGATGCTCTGGGTCTGGAGG TGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGC CCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCTGTGTGAGGGGTGCTCTG GGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTG TGAGGGACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCTGTGTGAG GGACCCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGT GTCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGGTGCTC TGGGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCG TGTGAGGGACCCTGTGTGAGGGATGCC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02809.hp1 HG02970.hp2 HG02572.hp1 HG02809.hp1 HG02970.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0006 a0001c0011t0006	a0001c0011t0006g0105 a0001c0011t0006g0106 a0001c0011t0006g0107 a0001c0011t0006g0105 a0001c0011t0006g0106 a0001c0011t0006g0107	3	298	0.0101	826	c.290 others(845): Show c.2904-1011_2904-1010insACCCTGTGTGAGGGATGCCCTGGGTC TGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAG GGACCCTGTGTGAGGGATGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGGT GTCCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCTGTGTGAGGGGTGCTC TGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCCG TGTGAGGGACCCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTCTGTGTG AGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGG ATGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGG TGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGACCC TGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTG GGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGATGCTCTGGGTC TGGAGGTGTCTGTGTGAGGGACCCTGTGTGAGGGGTGCTCTGGGTCTGGA GGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAGGGAC CCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGTCC TGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGATGCCCTGGG TCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCCGTGTG AGGGACCCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(819): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG GAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGA GGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGG GGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGG GAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAA GGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGG GGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGG GAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGG AGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGA AGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAG GGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGCAGTGGGAGGAGGAAGGG GAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGA AGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAG AAGGAGGGGGAAGTGGGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	300	0.0033	826	c.-70 others(835): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAG GGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGG GGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGG AAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAA GGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG GAAGGGGGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAA GGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGG AGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAG CGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGCAGTG GGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGG AGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAG GAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(819): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGTGGGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGG AAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGG AGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGG GGAAGGGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAAGGG GGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGAAGGA GGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAG GAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGG AGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGA GGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGAG GAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAG GGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGG GAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGA AGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAG AAGGAGGGGGAAGTGGGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02717.hp1 HG02922.hp1 HG02280.hp1 HG02717.hp1 HG02922.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0006 a0001c0002 a0005c0006	a0001c0002t0001 a0005c0006t0001 a0001c0002t0001 a0005c0006t0001	a0001c0002t0001g0047 a0005c0006t0001g0008 a0005c0006t0001g0029 a0001c0002t0001g0047 a0005c0006t0001g0008 a0005c0006t0001g0029	3	300	0.0100	826	c.-70 others(835): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGTGGGGAAGAGGAGGAGGAAGGGGGAAGGGGGA GGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGG GGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGG GAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGG AAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGA AGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGG GAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGG AAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGA AGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAA GACGGAGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAG CGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCG GGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGG AGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAG GAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
C2CD4C_chr19_400445_414147	411304	T T	TCTGCTGG others(819): Show TCTGCTGGGCACGGATCCTGGGGGTCTGTCCACTGCCCCTGCTGGGCCCG GATCCTGGGGGTCTGTCCACCGTCACTGCTGGGCCCGGATCCTGGGGGTC TGTCCACCGTCTCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCC TGCTGGGCCTGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGA TCCTGGGGGTCTGTCCACCGTCACTGCTGGGCCCGGATCCTGGGGGTCTG TCCACCGTCTCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTG CTGGGCTCGGATCCTGGGGGTCTGTCCACCGTCACTGCTGGGCCCGGATC CTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTC CACCGCCCCTGCTGGGCCCGAGCCGGGAGGAGGGTCCTGGGGGTCTGTCC ACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTG GGCCCGGATCCTGGGGGTCTGTCCACTGCCCCTGCTGGGCTCGGATCCTG GGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCAC CGCCCCTGCTGGGCCTGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGG CCCGGATCCTGGGGGTCTGTCCACCGTCACTGCTGGGCCCGGATCCTGGG GGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCG CCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCACTGCTGGGCC CGGATCCTGGGGGTCTGTCCACCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0020 a0001c0001t0020g0020	1	322	0.0031	826	c.-23 others(837): Show c.-2340_-2339insGGGTGGTGGACAGACCCCCAGGATCCGGGCCCAG CAGTGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGA CAGACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGA TCCGGGCCCAGCAGTGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCA GGGGCGGTGGACAGACCCCCAGGATCCAGGCCCAGCAGGGGCGGTGGACA GACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATC CGAGCCCAGCAGGGGCAGTGGACAGACCCCCAGGATCCGGGCCCAGCAGG GGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGA CCCCCAGGACCCTCCTCCCGGCTCGGGCCCAGCAGGGGCGGTGGACAGAC CCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGG GCCCAGCAGTGACGGTGGACAGACCCCCAGGATCCGAGCCCAGCAGGGGC GGTGGACAGACCCCCAGGATCCGTGCCCAGCAGAGACGGTGGACAGACCC CCAGGATCCGGGCCCAGCAGTGACGGTGGACAGACCCCCAGGATCCGTGC CCAGCAGGGGCGGTGGACAGACCCCCAGGATCCAGGCCCAGCAGGGGCGG TGGACAGACCCCCAGGATCCGTGCCCAGCAGAGACGGTGGACAGACCCCC AGGATCCGGGCCCAGCAGTGACGGTGGACAGACCCCCAGGATCCGGGCCC AGCAGGGGCAGTGGACAGACCCCCAGGATCCGTGCCCAGCAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2158		chr19	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(819): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGTAGGGTGGGGGAAGGGTGCGGGTGGGGT TGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGGCTGGGGAG GGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGGGGCTACTC CCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGGGGT GGAGGAGGGGTGGGGGAGGGAGGGATGGGGTGGGGGAAGGGTGTGGGTGG GGGAGGGGTGGGGTGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTC CCTGGGTGGGGTGGGGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGGGGT GGGGGAAGGGTGTGGGTGGGGTGGGGTGGGAGGGGTGGGGTGGGGTGGGA GGGGTGGGGTGGGGGAGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGGAGG GGTGGGGTGGGGTGGGAGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGGAG GGGTGGGGTGGGGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGGGGTGGG GGAAGGGTGTGGGTGGGGTGGGGTGGGAGGGGTGGGGTGGGGTGGGAGGG GGTGGGGTGGGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0211 a0001c0006t0001g0211	1	284	0.0035	826	c.712 others(843): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCACCCCACCCCTCCCACCCCACCCCACCCACACCCTTCCC CCACCCCACCTGCACCCTTCCCCCACCCCACCCCTCCCCCACCCCACCCC TCCCCCACCCCACCCCTCCCCCACCCCACCCCTCCCACCCCACCCCACCC CTCCCCCACCCCACCCCTCCCCCACCCCACCCCTCCCCCACCCCACCCCT CCCACCCCACCCCACCCCTCCCACCCCACCCCACCCACACCCTTCCCCCA CCCCACCTGCACCCTTCCCCCACCCCACCCCTCCCCCACCCCACCCAGGG AGTAGCCCCCACTCCACCCCACCCCCTCCCACCCCACCCCACCCCTCCCC CACCCACACCCTTCCCCCACCCCATCCCTCCCTCCCCCACCCCTCCTCCA CCCCACCTGCACCCTTCCCCCACCCCACCCCTCCTCCACCCCACCCAGGG AGTAGCCCCCACTCCACCCCACCCCTCCCCCTCCCACCCCACCCCACCCC TCCCCAGCCCCACCCATACCCTTCCCCCACTCCACCCCACCCCTCCCCAA CCCCACCCGCACCCTTCCCCCACCCTACCCACCCCTCCCCAGCCCCACAC ACACCCTTCCCCCACCCCAACCCTCCCCAGCCCCACCCACACCCTTCCCC CACCCCACCCCACCCCTCCCCCACCCCACCCCAACCCTCCCCCACCCCAC CCCAACCCTCCCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCC ACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(819): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGA AGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAAATTG AAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATAAAAC ACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCTATGT AGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAATTGTG CAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGTACTT TGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATCCTAG AGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACATGAA GTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGGAGTT TCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGAATTA TACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATATGTA TGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATAAATT TAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACATCCAT ACTACATATATATATATATATATATATATATATATATATATATATATTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATG AAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0222 a0001c0001t0060g0222	1	336	0.0030	826	c.248 others(843): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAA GGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAG ATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGA CAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAAT GGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGA GGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCC TTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACT TGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGAT GGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAAT TAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCAT AGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATT TTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGG GCAATACATCCATACTACATATATATATATATATATATATATATATATAT ATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTT GTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(819): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATG AAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0035 a0012c0015t0035	a0012c0015t0035g0032 a0012c0015t0035g0032	1	336	0.0030	826	c.248 others(843): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTT GTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(819): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATATTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATG AAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0131 a0001c0001t0063g0131	1	336	0.0030	826	c.248 others(843): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTGGTTTTTT GTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(819): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATG AAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01099.hp2 HG01243.hp1 others(4): Show HG00738.hp1 HG01099.hp2 HG01243.hp1 HG02572.hp2 HG02922.hp2 HG03225.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0062 a0001c0001t0004 a0001c0001t0062	a0001c0001t0004g0001 a0001c0001t0004g0206 a0001c0001t0004g0214 others(2): Show a0001c0001t0004g0001 a0001c0001t0004g0206 a0001c0001t0004g0214 a0001c0001t0004g0216 a0001c0001t0062g0215	7	336	0.0208	826	c.248 others(843): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTT GTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(819): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATG AAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0286 a0001c0001t0033g0286	1	336	0.0030	826	c.248 others(843): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTT GTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CFAP46_chr10_132803392_132947570	132914517	A A	ACCCCGGC others(819): Show ACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTG TGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCA CCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGT GTCCAGCCACACTGCACCCCCGGCCCGAGGCTGTGTCCAGCCACACTGCA CCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGT GTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCAC CCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTG TCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACC CCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGT CCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCC CGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTC CAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCC GGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCC AGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCG GCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCGCCCCGG CCCGAGGCTGTGTCCAGCCACACTGCG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0012 a0012	a0012c0073 a0012c0073	a0012c0073t0002 a0012c0073t0002	a0012c0073t0002g0005 a0012c0073t0002g0005	1	246	0.0041	826	c.212 others(845): Show c.2121-1260_2121-1259insCGCAGTGTGGCTGGACACAGCCTCGG GCCGGGGCGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGG CTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGG CCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGC TGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGC CGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCT GGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCC GGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTG GACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCG GGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGG ACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGG GGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGA CACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGG GTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGGTGCAGTGTGGCTGGA CACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGG GTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGAC ACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
COMMD9_chr11_36267292_36294424	36287093	A A	ACTATGTA others(819): Show ACTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAG TATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTA TGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATG TATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTA CATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATA CTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATC ATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTAC ATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATAT AGTATGTATACATGCTATGTACATCATATAGTATGTATACATGCTATGTA CATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATA CTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATC ATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTAC ATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATAT AGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGC TATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTA TGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATG TACATCATATAGTATGTATACTACATG	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	448	0.0022	826	c.51+ others(841): Show c.51+2268_51+2269insCATGTAGTATACATACTATATGATGTACAT AGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATAC TATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCA TGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATA TGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTA GTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGAT GTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTAT ACATACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTAC ATAGCATGTATACATACTATATGATGTACATAGCATGTATACATACTATA TGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTA GTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGAT GTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTAT ACATACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTAC ATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACAT ACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAG CATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTA TATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAG	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
EIF3B_chr7_2349827_2385745	2377723	T T	TGGAGGAA others(819): Show TGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAG CGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGA GAAGGCGCGAGCACTGCTGGGATGCCGTGTTCTGTGAATGACCCTGGGTG TCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGATGCTGTGTTCTGTG AATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCACGAGCGCTCCTGGGA TGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGC GAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAG GAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCC TGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGT TCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTC CTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGG CGCGAGCACTGCTGGGATGCCGTGTTCTGTGAATGACCCTGGGTGTCAAG GAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTGTGTGAATGA CCCTGGGTGTCATGGAGGAAGGAGCAGGCACGAGCGCTCCTGGGATGCTG TGTTCTGTGAATGACCCTGGGTGTCAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0175 a0001c0003t0001g0175	1	384	0.0026	826	c.215 others(843): Show c.2155-522_2155-521insTGGAGGAAGGAGCAGGCGCGAGCGCTCC TGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCA GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA AGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAAT GACCCTGGGTGTCGAGGAAGGAGAAGGCGCGAGCACTGCTGGGATGCCGT GTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGC TCCTGGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCATGGAGGAAGGA GCAGGCACGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTG TCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTG AATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGA ATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGC GAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAA GGAGAAGGCGCGAGCACTGCTGGGATGCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGATGCTGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCACGAGCGCTCCTG GGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
FBXO47_chr17_38931432_38972403	38946669	T T	TATATATA others(819): Show TATATATAAATATATAAATATATATGAATATATAAATATATATAAATATA TAAATATATAAATAAAAATATATAAAAATATATACATATATAAATATAAA TATATAATATATAAATATATAAATATAAATATATAAAAATATATAAATAT ATAAAAATATATAAATATATAAAAATATATAAATATATAAATATATATAA ATATATAAATATATAAATATATAAATATATAAATATATATAAATATATAA ATATATAAATATATAAATATATATAAATATATAAATATATAAATATATAA AAATATATAAATACATAAATATATAAATATATAAATATATAAATATATAA ATATATATAAGTACATATAAATATATATACATAAATATATAAATATATAA ATATATAAATATATAAATACATAATATATATAAATATAAAATATATATAA TATATAAAATATATTAAAAATATAAAAATATATATAAAAAAATATATAAA TATATAAAAATATATAAAAAATATATACACATATAAATATATATAAAAAT ATATAAATATATAAAAAAATATATAAATATATATTATATATAAATATATA TAAATATATAAATATATATAAATATATACAATATATAAATATATATAAAT ATATACAATATATAAATATATATAAATATATACAATATATAAATATATAT AAATATATACAATATATAAATATATATAAATATATACAATATATAAATAT ATATAAATATATATAATATATAAATATATATAAATATATAAATATATATA AATATATATAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03098.hp1 HG03130.hp2 HG02622.hp2 HG03098.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0339 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0339	3	344	0.0087	826	c.617 others(843): Show c.617-1534_617-1533insTATATATATTTATATATTATATATATTT ATATATATTTATATATTTATATATATTTATATATTATATATATTTATATA TATTTATATATTGTATATATTTATATATATTTATATATTGTATATATTTA TATATATTTATATATTGTATATATTTATATATATTTATATATTGTATATA TTTATATATATTTATATATTGTATATATTTATATATATTTATATATTTAT ATATATTTATATATAATATATATTTATATATTTTTTTATATATTTATATA TTTTTATATATATTTATATGTGTATATATTTTTTATATATTTTTATATAT TTATATATTTTTTTATATATATTTTTATATTTTTAATATATTTTATATAT TATATATATTTTATATTTATATATATTATGTATTTATATATTTATATATT TATATATTTATATATTTATGTATATATATTTATATGTACTTATATATATT TATATATTTATATATTTATATATTTATATATTTATGTATTTATATATTTT TATATATTTATATATTTATATATTTATATATATTTATATATTTATATATT TATATATTTATATATATTTATATATTTATATATTTATATATTTATATATT TATATATATTTATATATTTATATATTTTTATATATTTATATATTTTTATA TATTTATATATTTTTATATATTTATATTTATATATTTATATATTATATAT TTATATTTATATATGTATATATTTTTATATATTTTTATTTATATATTTAT ATATTTATATATATTTATATATTCATATATATTTATATATTTATATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FER_chr5_108742897_109201841	108930372	T T	TTCCCTCC others(819): Show TTCCCTCCCCTCTCCTCTCCCCTCCTTCCCCTCCCCTCTCCTCTCACCCT CCCCTCCCCCCCTTCCTCTGCCCTCCCTTCCCCTCCCCCCTCCTCCTCTC CTCTCCCCTCTTTTCCTCCCCTCCCCTTCTCCTCCCATCCCTTCCCTTAT CCTCCCCTTCTCCTCCCCTCACCTTCTCCTCTCCTCCCCTCCCCTTCTCC TCTCCTCATCCTCCCCTCCCCTTCTCCTCTCCTCCTCTCACCTCCCTTCT CCTCCCCTCCCCTTCTCCTGTCCTACCCCTCCCCTTCTCCTCTCCTCCCC TTCTCTTCCCTTCCCCTCCCCTCCCCTTTTCCTCCCCTCCCTGCCCCTCC CCTCTCCTCCCGTCTCCTCCCTTCCCCTCTCTTCCCCTCCTCTTCTCCCC TCCCCTCCCCCTCATCCTCCCTTCCTCGCCCCTCCCCTTTTTCTCATCTT CCCCTCCCTTTCCCACCCCTTCTCCTCCCCCTCTTCCCCTCTTTTCCCTC CCCTCCTTTTTTCCTCCCTTCCCCTCCCCTCCCTTCCCTTCCCCTCCCCT TCTTCTCCCCTCCCCTTCTCCTCTCCTCCCCTCCCCTCCCCTTTTCCACC CCTTTTCCTCTTCTTTTCTTCCTCTCCCCTCTCCTCCCCTCCCCTCTGCC TCTCCTCCCCTCCCCTCTGCCTCTCCTCCCCCTCCCCTTTTTCTCCCCTC CCCTCCCTGCCTCTTCTCCTTTCCTCCCTTCCCCTCCCCTCCCCTCTCCT TTCCCTCCCCTCCCCTCCCTTTCCTGCCCCTTCTCCTCACCTCTCTTCCC CTCCCCTCATCTTCCCCTCTCCTTTCC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0088 a0001c0001t0037g0088	1	138	0.0073	826	c.123 others(847): Show c.1237-15754_1237-15753insTCCCCTCTCCTCTCCCCTCCTTCC CCTCCCCTCTCCTCTCACCCTCCCCTCCCCCCCTTCCTCTGCCCTCCCTT CCCCTCCCCCCTCCTCCTCTCCTCTCCCCTCTTTTCCTCCCCTCCCCTTC TCCTCCCATCCCTTCCCTTATCCTCCCCTTCTCCTCCCCTCACCTTCTCC TCTCCTCCCCTCCCCTTCTCCTCTCCTCATCCTCCCCTCCCCTTCTCCTC TCCTCCTCTCACCTCCCTTCTCCTCCCCTCCCCTTCTCCTGTCCTACCCC TCCCCTTCTCCTCTCCTCCCCTTCTCTTCCCTTCCCCTCCCCTCCCCTTT TCCTCCCCTCCCTGCCCCTCCCCTCTCCTCCCGTCTCCTCCCTTCCCCTC TCTTCCCCTCCTCTTCTCCCCTCCCCTCCCCCTCATCCTCCCTTCCTCGC CCCTCCCCTTTTTCTCATCTTCCCCTCCCTTTCCCACCCCTTCTCCTCCC CCTCTTCCCCTCTTTTCCCTCCCCTCCTTTTTTCCTCCCTTCCCCTCCCC TCCCTTCCCTTCCCCTCCCCTTCTTCTCCCCTCCCCTTCTCCTCTCCTCC CCTCCCCTCCCCTTTTCCACCCCTTTTCCTCTTCTTTTCTTCCTCTCCCC TCTCCTCCCCTCCCCTCTGCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCC CCCTCCCCTTTTTCTCCCCTCCCCTCCCTGCCTCTTCTCCTTTCCTCCCT TCCCCTCCCCTCCCCTCTCCTTTCCCTCCCCTCCCCTCCCTTTCCTGCCC CTTCTCCTCACCTCTCTTCCCCTCCCCTCATCTTCCCCTCTCCTTTCCTC CC	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
IFNAR1_chr21_33319970_33364864	33322309	A A	ATATATGC others(819): Show ATATATGCAATATATATATATGGAATATATATATGCAGTATATATATATG AATATATATATGGAATATATATGGAATATATATATGGAATATATATATGG AATATATATATGGAATATATATATGGAATATATATATGGAATATATATAT GGAATATATATATATGTGGAATATATATATGGAATATATATATATGTGGA ATATATATATGGAATATATATATGGAATATATACATGGAATATATGTATA TGGAATATATACATGGAATATATGTATATGGAATATATACATGGAATATG TGTATATGGAATATATACATGGAATATGTGTATATGGAATATATACATGG AATATATATATGGAATATATACATGGAATATATATATGGAATATATACAT GGAATATATATATATGGAATATATACATGGAATATATATATATGGAATAT ATACATGGAATATATATATATGGAATATATACATGGAATATATATATATA GAATATATACATGGAATATATATATGGAATATATACATGGAATATATATA TATGGAATATATACATGGAATATATACATGGAATATATACATGGAACATA TACATGGAATATATACATGGAACATATACATGGAATATATATATATGGAA CATATACGGAATATATATATGGAATATATATACGGAATATATATATATGG AATATATATACGGAATATATATATGGAATATATATACGGAATATATATAT ATGGAATATATATACGGAATATATATATATGGAATATATATACGGAATAT ATATATGGAATATATATATGGAATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	323	0.0031	826	c.-27 others(837): Show c.-2747_-2746insTATATGCAATATATATATATGGAATATATATATG CAGTATATATATATGAATATATATATGGAATATATATGGAATATATATAT GGAATATATATATGGAATATATATATGGAATATATATATGGAATATATAT ATGGAATATATATATGGAATATATATATATGTGGAATATATATATGGAAT ATATATATATGTGGAATATATATATGGAATATATATATGGAATATATACA TGGAATATATGTATATGGAATATATACATGGAATATATGTATATGGAATA TATACATGGAATATGTGTATATGGAATATATACATGGAATATGTGTATAT GGAATATATACATGGAATATATATATGGAATATATACATGGAATATATAT ATGGAATATATACATGGAATATATATATATGGAATATATACATGGAATAT ATATATATGGAATATATACATGGAATATATATATATGGAATATATACATG GAATATATATATATAGAATATATACATGGAATATATATATGGAATATATA CATGGAATATATATATATGGAATATATACATGGAATATATACATGGAATA TATACATGGAACATATACATGGAATATATACATGGAACATATACATGGAA TATATATATATGGAACATATACGGAATATATATATGGAATATATATACGG AATATATATATATGGAATATATATACGGAATATATATATGGAATATATAT ACGGAATATATATATATGGAATATATATACGGAATATATATATATGGAAT ATATATACGGAATATATATATGGAATATATATATGGAATATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2660		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322309	A A	ATATATGC others(819): Show ATATATGCAGTATATATATATGAATATATATATGGAATATATATGGAATA TATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAA TATATATGTGGAATATATATATGGAATATATATATATGTGGAATATATAT ATGGAATATATATATATGTGGAATATATATATGGAATATATATATGGAAT ATATATATATGGAATATATATATGGAATATATACATGGAATATATGTATA TGGAATATATACATGGAATATGTGTATATGGAATATATACATGGAATATG TGTATATGGAATATATACATGGAATATATGTATATGGAATATATACATGG AATATATATATGGAATATATACATGGAATATATATATGGAATATATACAT GGAATATATATATATGGAATATATACATGGAATATATATATATGGAATAT ATACATGGAATATATATATATGGAATATATACATGGAATATATATATGGA ATATATACATGGAATATATATATATGGAATATATACATGGAACATATACA TGGAATATATACATGGAACATATACATGGAATATATACATGGAACATATA CATGGAATATATATATATGGAACATATACGGAATATATATATGGAATATA TATACGGAATATATATATATGGAATATATATACGGAATATATATATGGAA TATATATACGGAATATATATATATGGAATATATATACGGAATATATATAT ATGGAATATATATACGGAATATATATATATGGAATATATATACGGAATAT GTATATGGAATATATATATGGAATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0224 a0002c0002t0016g0224	1	323	0.0031	826	c.-27 others(837): Show c.-2747_-2746insTATATGCAGTATATATATATGAATATATATATGG AATATATATGGAATATATATATGGAATATATATATGGAATATATATATGG AATATATATATGGAATATATATGTGGAATATATATATGGAATATATATAT ATGTGGAATATATATATGGAATATATATATATGTGGAATATATATATGGA ATATATATATGGAATATATATATATGGAATATATATATGGAATATATACA TGGAATATATGTATATGGAATATATACATGGAATATGTGTATATGGAATA TATACATGGAATATGTGTATATGGAATATATACATGGAATATATGTATAT GGAATATATACATGGAATATATATATGGAATATATACATGGAATATATAT ATGGAATATATACATGGAATATATATATATGGAATATATACATGGAATAT ATATATATGGAATATATACATGGAATATATATATATGGAATATATACATG GAATATATATATGGAATATATACATGGAATATATATATATGGAATATATA CATGGAACATATACATGGAATATATACATGGAACATATACATGGAATATA TACATGGAACATATACATGGAATATATATATATGGAACATATACGGAATA TATATATGGAATATATATACGGAATATATATATATGGAATATATATACGG AATATATATATGGAATATATATACGGAATATATATATATGGAATATATAT ACGGAATATATATATATGGAATATATATACGGAATATATATATATGGAAT ATATATACGGAATATGTATATGGAATATATATATGGAATATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2660		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322329	T T	TGGAACAT others(819): Show TGGAACATATATATGGAATATATATATATGGAATATATATATGCAATATA TATATATGGAATATATATATGCAGTATATATATATGAATATATATATGGA ATATATATGGAATATATATATGGAATATATATATGGAATATATATATGGA ATATATATATGGAATATATATATGGAATATATATATGGAATATATATATA TGTGGAATATATATATGGAATATATATATATGTGGAATATATATATGGAA TATATATATGGAATATATACATGGAATATATGTATATGGAATATATACAT GGAATATATGTATATGGAATATATACATGGAATATGTGTATATGGAATAT ATACATGGAATATGTGTATATGGAATATATACATGGAATATATATATGGA ATATATACATGGAATATATATATGGAATATATACATGGAATATATATATA TGGAATATATACATGGAATATATATATGGAATATATACATGGAATATATA TATATGGAATATATACATGGAATATATATATATAGAATATATACATGGAA TATATATATGGAATATATACATGGAATATATATATATGGAATATATACAT GGAATATATACATGGAATATATACATGGAACATATACATGGAATATATAC ATGGAACATATACATGGAATATATATATATGGAACATATACGGAATATAT ATATGGAATATATATACGGAATATATATATATGGAATATATATACGGAAT ATATATATGGAATATATATACGGAATATATATATATGGAATATATATACG GAATATATATATATGGAATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	323	0.0031	826	c.-27 others(837): Show c.-2727_-2726insGGAACATATATATGGAATATATATATATGGAATA TATATATGCAATATATATATATGGAATATATATATGCAGTATATATATAT GAATATATATATGGAATATATATGGAATATATATATGGAATATATATATG GAATATATATATGGAATATATATATGGAATATATATATGGAATATATATA TGGAATATATATATATGTGGAATATATATATGGAATATATATATATGTGG AATATATATATGGAATATATATATGGAATATATACATGGAATATATGTAT ATGGAATATATACATGGAATATATGTATATGGAATATATACATGGAATAT GTGTATATGGAATATATACATGGAATATGTGTATATGGAATATATACATG GAATATATATATGGAATATATACATGGAATATATATATGGAATATATACA TGGAATATATATATATGGAATATATACATGGAATATATATATGGAATATA TACATGGAATATATATATATGGAATATATACATGGAATATATATATATAG AATATATACATGGAATATATATATGGAATATATACATGGAATATATATAT ATGGAATATATACATGGAATATATACATGGAATATATACATGGAACATAT ACATGGAATATATACATGGAACATATACATGGAATATATATATATGGAAC ATATACGGAATATATATATGGAATATATATACGGAATATATATATATGGA ATATATATACGGAATATATATATGGAATATATATACGGAATATATATATA TGGAATATATATACGGAATATATATATATGGAATATATATAC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2640		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TAATATAT others(819): Show TAATATATATATGGAATATATACGGAATATATATATAATATATATGGAAT ATATATATACGGAATATATATAATATATATACGGAATATATATATACGGA ATATATATAATATATATACGGAATATATATATAATATATATATAATATAT ATACGGAATATATATATAATATATAAATGGAATATATATACGGAATATAT ATATAATATATAAATGGAATATATATATACGGAATATATATATAATATAT AAATGGAATATATATATACGGAATATATATATAATATATATATGGAATAT ATATATACGGAATATATATATAATATATATATGGAATATATATATACGGA ATATATATATAATATATATATGGAATATATATATACGGAATATATATATT ATATATATGGAATATATATATACGGAATATATATATAATATATATATGGA ATATATATACGGAATATATATATATGGATATATATACGGAATATATATAT ATGGAATATATATATATGGAATGTGTATATATGGAATATATATATATGGA ATGTGTATATATGGAATATATATATATGGAATGTGTATATATGGAATATA TATATGGAATGTGTATATATGGAATATATATATGGAATATATATATGGAA TATATATATGGAATATATATATGGAATATATATATGGAATATATATATAT GGAATATATATATGGAATATATATATATGGAATATATATATGGAATATAT ATATATGGAATATATATATGGAATATATATATATGGAATATATATATGGA ATATATATATATGGAATATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	323	0.0031	826	c.-21 others(837): Show c.-2147_-2146insAATATATATATGGAATATATACGGAATATATATA TAATATATATGGAATATATATATACGGAATATATATAATATATATACGGA ATATATATATACGGAATATATATAATATATATACGGAATATATATATAAT ATATATATAATATATATACGGAATATATATATAATATATAAATGGAATAT ATATACGGAATATATATATAATATATAAATGGAATATATATATACGGAAT ATATATATAATATATAAATGGAATATATATATACGGAATATATATATAAT ATATATATGGAATATATATATACGGAATATATATATAATATATATATGGA ATATATATATACGGAATATATATATAATATATATATGGAATATATATATA CGGAATATATATATTATATATATGGAATATATATATACGGAATATATATA TAATATATATATGGAATATATATACGGAATATATATATATGGATATATAT ACGGAATATATATATATGGAATATATATATATGGAATGTGTATATATGGA ATATATATATATGGAATGTGTATATATGGAATATATATATATGGAATGTG TATATATGGAATATATATATGGAATGTGTATATATGGAATATATATATGG AATATATATATGGAATATATATATGGAATATATATATGGAATATATATAT GGAATATATATATATGGAATATATATATGGAATATATATATATGGAATAT ATATATGGAATATATATATATGGAATATATATATGGAATATATATATATG GAATATATATATGGAATATATATATATGGAATATATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(819): Show CGCCCCCACAGCCGCCCCCCCCACAGCTGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCCG CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCA CAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCC CACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCG CCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGC CACCTCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCA CAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCA AAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCC CCACAGCCGCCCCCACAGCCACCCCCCACAGCCGCCCCCCACAGCCGCCC CCACAGCCACCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCG CCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAG CCGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	312	0.0032	826	c.-41 others(841): Show c.-41+629_-41+630insCCCACAGCTGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCC ACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCC CCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCC GCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAG CCACCTCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCC ACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCC AAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCC CCCACAGCCGCCCCCACAGCCACCCCCCACAGCCGCCCCCCACAGCCGCC CCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCC GCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACA GCCGCCCCCGCAGCTGCCCCCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KIF3B_chr20_32272651_32340011	32322672	T T	TTATATAT others(819): Show TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0053 a0001c0002t0004g0053	1	242	0.0041	826	c.174 others(845): Show c.1749-4092_1749-4091insATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATAT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
KIRREL3_chr11_126418358_127005770	126799454	C C	CTGTGTGC others(819): Show CTGTGTGCATGTGTGTACCTGTAGGCATGTGCATGTGTGTATGTGTGTGT GCATGTGTGTATCTCTGTGTGTGCATGTGTGTATCTGTGTGCATGTGTGT ATCTGTGTGCATGTGCATGTGTATATCTGTATGTGTGCATGTGTGTATCA CTGTGTGCATGTATGTGTCTGTGTGTGAATGTGTGTATCTGTGTATGTGC ATGTAGCTGTGTGTGTGCATGTATCTGTGTGCATGTGGTATCTGTGTGTG CGCATGTGTATCTGCATATGTGTGTATCCATGTGCACATGTGTGTATCTG TGTGCATGTGCATGTGATGTGTGTATCTGTGTGTGCATATATCTGTGTGT GCATGTGTGTATCTGTGTGTGCATATGTGTATCTGCATATGTGCATGTAT CTATGTGTGCATGTGTCTGTGTGTGCATGTGCATGTACCTGTGCATGTGC ATGTATCTGTGCATGTGTGTATCTGTGTGCATGTGCACGTGGTATCTGGG TGTGTGCATGTGTGTATCTGTGTGTGCATATGTGTATCTGTGTGTGCATG TGTGTATCTGTGTGTGTGCATGTGTATATCTGTGTGTGCATGTGCGTATC TGTGTTGTGCATGTGTGTATCTGTGTGTGTGCATGTGTGTATCTGTGTGT GCACGTGGTATCTGTGTGTGTGCATGTATCTGCGTGTGTGTATTCATGTG TGCATGTGTGTATCTGTGTACACATATCTGTGTGTGCATGTATCTGTGTG TGCGCATGTGTGTATCTGTGTTTGCATGTGTGTATCTGTGTGTGTGCATG TGTGTATCTGTGTTGTGCATGTATCTG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0056 a0001c0003t0001g0056	1	114	0.0088	826	c.55+ others(845): Show c.55+201000_55+201001insCAGATACATGCACAACACAGATACAC ACATGCACACACACAGATACACACATGCAAACACAGATACACACATGCGC ACACACAGATACATGCACACACAGATATGTGTACACAGATACACACATGC ACACATGAATACACACACGCAGATACATGCACACACACAGATACCACGTG CACACACAGATACACACATGCACACACACAGATACACACATGCACAACAC AGATACGCACATGCACACACAGATATACACATGCACACACACAGATACAC ACATGCACACACAGATACACATATGCACACACAGATACACACATGCACAC ACCCAGATACCACGTGCACATGCACACAGATACACACATGCACAGATACA TGCACATGCACAGGTACATGCACATGCACACACAGACACATGCACACATA GATACATGCACATATGCAGATACACATATGCACACACAGATACACACATG CACACACAGATATATGCACACACAGATACACACATCACATGCACATGCAC ACAGATACACACATGTGCACATGGATACACACATATGCAGATACACATGC GCACACACAGATACCACATGCACACAGATACATGCACACACACAGCTACA TGCACATACACAGATACACACATTCACACACAGACACATACATGCACACA GTGATACACACATGCACACATACAGATATACACATGCACATGCACACAGA TACACACATGCACACAGATACACACATGCACACACAGAGATACACACATG CACACACACATACACACATGCACATGCCTACAGGTACACACATGCACACA	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(819): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGATGGTGGGGGTGATGAC GGTGATGATGGGGGTGGAGGGGTGATGACGGTGATGATGGGGGTGGGGGG GTGATGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACG GTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGT GGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGA TGACGGTGGGGGTGGGGGTGATGATGGTGATGGTGGGGGTGATGATGGTG GGGGTGGGGGTGATGATGGTGAGGGTGATGATGGTGGGGGTAATGACGGT GGGGGTGGGGGTAATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTGG GGGTGATGACGATGATGGTGGGGGTGATGACGGTGATGGCGGTGGGGGTG ATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGT GGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGG GGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATG ACGGTGATGGTAGAGGTGATGATGGTGGGGGTGGGGGTGGGGGTGGGGGT GAGGGTGATGATGGTGGGGGTGATGATGGTGATGGTGGGGGTGATGATGG TGAGGGTGATGATGGTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTAATG ACGGTGGGGTGGGGGTAATGACGGTGG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0016 a0016	a0016c0093 a0016c0093	a0016c0093t0001 a0016c0093t0001	a0016c0093t0001g0123 a0016c0093t0001g0123	1	186	0.0054	826	c.956 others(843): Show c.956+1962_956+1963insCCACCGTCATTACCCCCACCCCACCGTC ATTACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCCTCAC CATCATCACCCCCACCATCACCATCATCACCCCCACCATCATCACCCTCA CCCCCACCCCCACCCCCACCCCCACCATCATCACCTCTACCATCACCGTC ATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCC CACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCA CCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATC ACCCCCACCGCCATCACCGTCATCACCCCCACCATCATCGTCATCACCCC CACCATCACCGTCATCACCCCCACCCCCACCGTCATTACCCCCACCCCCA CCGTCATTACCCCCACCATCATCACCCTCACCATCATCACCCCCACCCCC ACCATCATCACCCCCACCATCACCATCATCACCCCCACCCCCACCGTCAT CACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCA CCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCATCACC GTCATCACCCCCACCCCCACCGTCATCACCCCCACATCACCGTCATCACC CCCCCACCCCCATCATCACCGTCATCACCCCTCCACCCCCATCATCACCG TCATCACCCCCACCATCATCACCCCCAGCCCCACCGTCATCACCCCCACC ATCACCATCATCACCCCCACCCCCACCATCACCACCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATC others(819): Show TATATATCCATATATATATATATCCATATATATATATATCCATATATATA TATATCCATATATATATATATCCATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATATCCATATATATATATATCCA TATATATATATATCCATATATATATATATCCATATATATATATCCATATA TATATATATATCCATATATATATCCATATATATATATATCCATATATATA TATCCATATATATATATATCCATATATATATATATCCATATATATATATA TCCATATATATATATATCCATATATATATCCATATATATATATATCCATA TATATATATATCCATATATATATATCCATATATATATATCCATATATATA TATATCCATATATATATATCCATATATATATCCATATATATATCCATATA TATATATCCATATATATATATCCATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATCCATATATATATA TATCCATATATATATCCATATATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATCCATATATATATATATCCATATATATA TATCCATATATATATATATCCATATATATATATCCATATATATATATATC CATATATATATATCCATATATATATATATCCATATATATATATCCATATA TATATATATCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0256 a0002c0002t0002g0256	1	284	0.0035	826	c.126 others(843): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATGGATATATATATAT ATGGATATATATATATGGATATATATATATATGGATATATATATGGATAT ATATATATATGGATATATATATGGATATATATATATATGGATATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATATGG ATATATATATATGGATATATATATATGGATATATATATATGGATATATAT ATATGGATATATATATGGATATATATATGGATATATATATATGGATATAT ATATATATGGATATATATATATGGATATATATATATGGATATATATATAT ATGGATATATATATATATGGATATATATATGGATATATATATATATGGAT ATATATATATATGGATATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATGGATATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATAT GGATATATATATATATGGATATATATATATATGGATATATATATATATGG ATATATATATATGGATATATATATATGGATATATATATATATGGATATAT ATATATATGGATATATATATATATGGATATATATATATATGGATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LHFPL3_chr7_104323603_104913561	104824176	A A	ATATATAT others(819): Show ATATATATAATATATATATTATATATTATATATATAATATATATATTATA TATTATAATATATAATATATAATATATATTATATATATTATATTATATAT TATATATATAATATATTATATATTATATATATATTATATAATATATTATA TATTATATATATATTATATTATATATTATATATAATTATATATATTTTAT ATATTATATATTATATATTATATATTATATATTATATATATTATATATTA TATATTATATATTATATATTATATATATTATATATTATATATTATATTTT ATATATATTATATATTATATATACAATTATATATATTATATATATTATAT ATTATATATATTATATATTATATAATATATTATATATAATATATATTATA TATTATATATTATATAATATATAATATATTATATATTATATATTATATAA TATATTATATATAATATATATTATATATTATATATTATATAATATATAAT ATATTATATATTATATATATATTATATAATATATTATATATATAATATAT TATATATTATATATATATTATATAATATATTATATATATAATATATTATA TAATATATTATATATATAATATATATTATATATAATATATATAATTGTAT ATATAATATATAATATATAATATATAATATATATAATATATAATATATAA TATATATAATATATAATATATAATATATAATATATATAATATATAATATA TAATATATAATATATAATATATAATATATAAAATATATATATAAAATATA TTATGTATTATATATTATATAATATAT	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0012 a0001c0001t0008g0012	1	86	0.0116	826	c.683 others(845): Show c.683-81995_683-81994insATTATATATTATATATATAATATATA TATTATATATTATAATATATAATATATAATATATATTATATATATTATAT TATATATTATATATATAATATATTATATATTATATATATATTATATAATA TATTATATATTATATATATATTATATTATATATTATATATAATTATATAT ATTTTATATATTATATATTATATATTATATATTATATATTATATATATTA TATATTATATATTATATATTATATATTATATATATTATATATTATATATT ATATTTTATATATATTATATATTATATATACAATTATATATATTATATAT ATTATATATTATATATATTATATATTATATAATATATTATATATAATATA TATTATATATTATATATTATATAATATATAATATATTATATATTATATAT TATATAATATATTATATATAATATATATTATATATTATATATTATATAAT ATATAATATATTATATATTATATATATATTATATAATATATTATATATAT AATATATTATATATTATATATATATTATATAATATATTATATATATAATA TATTATATAATATATTATATATATAATATATATTATATATAATATATATA ATTGTATATATAATATATAATATATAATATATAATATATATAATATATAA TATATAATATATATAATATATAATATATAATATATAATATATATAATATA TAATATATAATATATAATATATAATATATAATATATAAAATATATATATA AAATATATTATGTATTATATATTATATAATATATTATATATAATATATAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LORICRIN_chr1_153254687_153267124	153256766	T T	TATAGTCA others(819): Show TATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAA ACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTA TATAAAACTATATATAGTCACATATGTATATAAAACTAAATATAGTCATA TATGTATATAAAACTATATATAGTTATATGTATATAAAACTATAGTCATA TATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACA GTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTA TATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATA AAACTATACAGTCATATATGTATATAAAACTATATATAGTCATATATGTA TATAAAACTATATATAGTCATATATGTATATAAAACTATATATAGTCATA TATGTATATAAAACTATATAGTCATATATGTATATAAAACTATATAGTCA TATATGTATATAAAACTATATAGTTATATATGTATATAAAACTATAGTTA TATATGTATATAAAACTATAGTTATATATGTATGTAAAACTATAGTTATA TATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATGTA TGTAAAACTATAGTTATATATGTATGTAAAACTATATACAGTTATGTATG TATGTAAAACTATATACAGTTATGTATGTATGTAAAACTATACACAGTTA TGTATGTATGTAAAACTATACACAGTTATGTATGTATGTAAAACTATACA CAGTTATGTATGTATGTAAAACTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0001	1	422	0.0024	826	c.-29 others(837): Show c.-2991_-2990insATAGTCACATATGTATATAAAACTATATATAGTC ACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATAT ATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAA CTAAATATAGTCATATATGTATATAAAACTATATATAGTTATATGTATAT AAAACTATAGTCATATATGTATATAAAACTATATACAGTCATATATGTAT ATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATAT ATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAG TCATATATGTATATAAAACTATACAGTCATATATGTATATAAAACTATAT ATAGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAAAA CTATATATAGTCATATATGTATATAAAACTATATAGTCATATATGTATAT AAAACTATATAGTCATATATGTATATAAAACTATATAGTTATATATGTAT ATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATATGTATGT AAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAA AACTATAGTTATGTATGTAAAACTATAGTTATATATGTATGTAAAACTAT ATACAGTTATGTATGTATGTAAAACTATATACAGTTATGTATGTATGTAA AACTATACACAGTTATGTATGTATGTAAAACTATACACAGTTATGTATGT ATGTAAAACTATACACAGTTATGTATGTATGTAAAACTATAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2920		chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256766	T T	TATAGTCA others(819): Show TATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAA ACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTA TATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACA TATGTATATAAAACTAAATATAGTCATATATGTATATAAAACTATATATA GTCATATGTATATAAAACTATAGTCATATATGTATATAAAACTATATACA GTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTA TATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATA AAACTATACAGTCATATATGTATATAAAACTATATATAGTCATATATGTA TATAAAACTATATATAGTCATATATGTATATAAAACTATATATAGTCATA TATGTATATAAAACTATATAGTCATATATGTATATAAAACTATATAGTCA TATATGTATATAAAACTATATAGTCATATATGTATATAAAACTATAGTTA TATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATA TATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATGTA TGTAAAACTATAGTTATATATGTATGTAAAACTATATACAGTTATGTATG TATGTAAAACTATACACAGTTATGTATGTATGTAAAACTATACACAGTTA TGTATGTATGTAAAACTATACACAGTTATGTATGTATGTAAAACTATACA CAGTTATGTATGTATGTAAAACTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG03490.hp1 HG03492.hp1 HG00280.hp1 HG03490.hp1 HG03492.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0001	3	422	0.0071	826	c.-29 others(837): Show c.-2991_-2990insATAGTCACATATGTATATAAAACTATATATAGTC ACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATAT ATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAA CTATATATAGTCACATATGTATATAAAACTAAATATAGTCATATATGTAT ATAAAACTATATATAGTCATATGTATATAAAACTATAGTCATATATGTAT ATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATAT ATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAG TCATATATGTATATAAAACTATACAGTCATATATGTATATAAAACTATAT ATAGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAAAA CTATATATAGTCATATATGTATATAAAACTATATAGTCATATATGTATAT AAAACTATATAGTCATATATGTATATAAAACTATATAGTCATATATGTAT ATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATATGTATAT AAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAA AACTATAGTTATGTATGTAAAACTATAGTTATATATGTATGTAAAACTAT ATACAGTTATGTATGTATGTAAAACTATACACAGTTATGTATGTATGTAA AACTATACACAGTTATGTATGTATGTAAAACTATACACAGTTATGTATGT ATGTAAAACTATACACAGTTATGTATGTATGTAAAACTATAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2920		chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256766	T T	TATAGTCA others(819): Show TATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAA ACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTA TATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACA TATGTATATAAAACTAAATATAGTCATATATGTATATAAAACTATATATA GTTATATGTATATAAAACTATAGTCATATATGTATATAAAACTATATACA GTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTA TATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATA AAACTATATACAGTCATATATGTATATAAAACTATACAGTCATATATGTA TATAAAACTATATATAGTCATATATGTATATAAAACTATATATAGTCATA TATGTATATAAAACTATATAGTCATATATGTATATAAAACTATATAGTCA TATATGTATATAAAACTATATAGTTATATATGTATATAAAACTATAGTTA TATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATA TATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATGTA TGTAAAACTATAGTTATATATGTATGTAAAACTATATACAGTTATGTATG TATGTAAAACTATATACAGTTATGTATGTATGTAAAACTATACACAGTTA TGTATGTATGTAAAACTATACACAGTTATGTATGTATGTAAAACTATACA CAGTTATGTATGTATGTAAAACTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0001 a0003c0006t0001g0001	1	422	0.0024	826	c.-29 others(837): Show c.-2991_-2990insATAGTCACATATGTATATAAAACTATATATAGTC ACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATAT ATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAA CTATATATAGTCACATATGTATATAAAACTAAATATAGTCATATATGTAT ATAAAACTATATATAGTTATATGTATATAAAACTATAGTCATATATGTAT ATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATAT ATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAG TCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTAT ACAGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAAAA CTATATATAGTCATATATGTATATAAAACTATATAGTCATATATGTATAT AAAACTATATAGTCATATATGTATATAAAACTATATAGTTATATATGTAT ATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATATGTATAT AAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAA AACTATAGTTATGTATGTAAAACTATAGTTATATATGTATGTAAAACTAT ATACAGTTATGTATGTATGTAAAACTATATACAGTTATGTATGTATGTAA AACTATACACAGTTATGTATGTATGTAAAACTATACACAGTTATGTATGT ATGTAAAACTATACACAGTTATGTATGTATGTAAAACTATAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2920		chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256766	T T	TATAGTCA others(819): Show TATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAA ACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTA TATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACA TATGTATATAAAACTAAATATAGTCATATATGTATATAAAACTATATATA GTTATATGTATATAAAACTATAGTCATATATGTATATAAAACTATATACA GTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTA TATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATA AAACTATATACAGTCATATATGTATATAAAACTATACAGTCATATATGTA TATAAAACTATATATAGTCATATATGTATATAAAACTATATATAGTCATA TATGTATATAAAACTATATATAGTCATATATGTATATAAAACTATATAGT CATATATGTATATAAAACTATATAGTCATATATGTATATAAAACTATATA GTTATATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGT TATATATGTATATAAAACTATAGTTATATATGTATGTAAAACTATAGTTA TATATGTATGTAAAACTATAGTTATGTATGTAAAACTATAGTTATATATG TATGTAAAACTATATACAGTTATGTATGTATGTAAAACTATACACAGTTA TGTATGTATGTAAAACTATACACAGTTATGTATGTATGTAAAACTATACA CAGTTATGTATGTATGTAAAACTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0001 a0003c0006t0001g0001	1	422	0.0024	826	c.-29 others(837): Show c.-2991_-2990insATAGTCACATATGTATATAAAACTATATATAGTC ACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATAT ATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAA CTATATATAGTCACATATGTATATAAAACTAAATATAGTCATATATGTAT ATAAAACTATATATAGTTATATGTATATAAAACTATAGTCATATATGTAT ATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATAT ATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAG TCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTAT ACAGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAAAA CTATATATAGTCATATATGTATATAAAACTATATATAGTCATATATGTAT ATAAAACTATATAGTCATATATGTATATAAAACTATATAGTCATATATGT ATATAAAACTATATAGTTATATATGTATATAAAACTATAGTTATATATGT ATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATATGTAT GTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATGTATGTAAAA CTATAGTTATATATGTATGTAAAACTATATACAGTTATGTATGTATGTAA AACTATACACAGTTATGTATGTATGTAAAACTATACACAGTTATGTATGT ATGTAAAACTATACACAGTTATGTATGTATGTAAAACTATAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2920		chr1	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCTCT others(819): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCTCCCCTCCTCTCTCCTCCC CTCCCCCCCCTCCTCTCTCCTCCCCTCTCCTCCTCCCCTCCTCCCTCCTC CCTCCCTCCTCTCTCTCCCTCTCCCTCCTCTCTCCTCCCCTCCCCTCCCC TCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCTCCCTCCCCTCCCCTC CCCTCCTCTCTCTCCCTCCCCTCCCCTCCCTCCTCTCTCCTCCCCTCCCC TCCCCCTCTCCTCCCCTCTCCCCTCCCTTCCCCTCTCCTCCCTCCCTCCC CTCTTCCCCTCTCCTCCCTCCTCCCTCCCCTCCCTCCCTCTCCTCCCCTC CTCTCCCTCCTCCTCCCTCCTCCCCTCCCCTCCTCCTCCTCTCCTCCCTC CCTCTCCTCCCCTCCTCTCCTCCCTCTCCCTCCCTCCCCTCTCCTCCCTC CTCTCTCCTCCCTCCCTCTCCCCTCCCTCTCCTCCTCTCTCCTCCCCTCC TCCTCCCCTCTCTCCTCCCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCT CCTCTCTCCTCCCCTCCCCTCCTCTCTCCTCTCCCTCCCTTCCCCTCTCC TCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCCCTCCCCTCTCCT CCACTCCTCTCCCTCTCCTCCACTCCTCTCCCCTCCCCTCCTCTCTCCTC CACTCCTCTCCCCTCCTCTCCTCTCTCCTCCCCTCCCCTCTCCTCCCCTC CCCACCCCTCCCCTCCCCTCCTTTCTCCTCCCCTCCCCACGGCTCCCCTC CCCTCCTTTCTCCTCCCTTGCCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	1	318	0.0031	826	c.-49 others(837): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGAGAGGAGTGGAGGAGAG GGGAGGGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGAGGAGAGG GGAAGGGAGGGAGAGGAGAGAGGAGGGGAGGGGAGGAGAGAGGAGGGGAG GAGAGGGGAAGGGAGGGGAGAGGAGGGAGGAGAGAGGGGAGGAGGAGGGG AGGAGAGAGGAGGAGAGGGAGGGGAGAGGGAGGGAGGAGAGAGGAGGGAG GAGAGGGGAGGGAGGGAGAGGGAGGAGAGGAGGGGAGGAGAGGGAGGGAG GAGAGGAGGAGGAGGGGAGGGGAGGAGGGAGGAGGAGGGAGAGGAGGGGA GGAGAGGGAGGGAGGGGAGGGAGGAGGGAGGAGAGGGGAAGAGGGGAGGG AGGGAGGAGAGGGGAAGGGAGGGGAGAGGGGAGGAGAGGGGGAGGGGAGG GGAGGAGAGAGGAGGGAGGGGAGGGGAGGGAGAGAGAGGAGGGGAGGGGA GGGGAGGGAGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGG GGAGGGGAGGAGAGAGGAGGGAGAGGGAGAGAGAGGAGGGAGGGAGGAGG GAGGAGGGGAGGAGGAGAGGGGAGGAGAGAGGAGGGGGGGGAGGGGAGGA GAGAGGAGGGGAGGGAGGGGAGGACAGAGGAGGAGAGAGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MLPH_chr2_237482251_237560322	237544613	G G	GGGGACAG others(819): Show GGGGACAGTGGTGAGTGGGGACAGTAATGAGTCGGGGGACAGTGGTGAGT GGGCACAGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGT GGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGC AAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGGACAGTGG TGAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGAC AGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGAC AGTGGTGAGTGGGCACGGTAGTGAGTGGGGGCACAGTGGTGAGTGGGGAC AGTGGTGAGTTGGGGGACAGTGGTGAGTGGGTGCACGGTAGTGAGTCGGG GGACAGTGGTGAGTGGGGGAACAGTGGTGAGTGGGGGACAGTAGTGAGTG GGGGACAGTGGTGAGTGGGGGCACAGTGGTGAGTGGGGACAGTGGTGAGT TGGGGGACAGTGGTGAGTGGGGGCACGGTAGTGACTGGGGCGACAGTGGT GAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGTG GTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAG TGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACA GTGGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGAC AGTGGTGAGTGGGCACGGTGGTGAGTGGGGCGACAGTGGTGAGTGGGGGG ACAGTGGTGAGTGGGGGACAGTGGTGA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0070 a0002c0002t0001g0070	1	286	0.0035	826	c.153 others(845): Show c.1539+1955_1539+1956insGGACAGTGGTGAGTGGGGACAGTAAT GAGTCGGGGGACAGTGGTGAGTGGGCACAGTAGTGAGTGGGGGGACAGTG GTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAG TGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAG TGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGAGG GGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGG GGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGG GGGCACAGTGGTGAGTGGGGACAGTGGTGAGTTGGGGGACAGTGGTGAGT GGGTGCACGGTAGTGAGTCGGGGGACAGTGGTGAGTGGGGGAACAGTGGT GAGTGGGGGACAGTAGTGAGTGGGGGACAGTGGTGAGTGGGGGCACAGTG GTGAGTGGGGACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGGGCACGG TAGTGACTGGGGCGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGA CAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGG ACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGG CACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGG GGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTGGTGAGTGG GGCGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(819): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGAAGGAGGGGGAAGGA GGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGA GGGCAGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGG GGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGG AAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGT GGGGGAAGGGGGGAAGGGGAAAGGGTGAGGGGAAGGGGGGAAGGGGGAAA GGGGTGAGGGGAGGATGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGGGGAGGGGGAGGG GGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAG GGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGG AGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGAAGAGAGGGAGGGGGAGAGGGAGGGAAGGGAGGGGGAG GGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTG GAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGG AGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGA GGGGGAGGGAAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGG GAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	272	0.0037	826	c.250 others(841): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCC TCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCAC TCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTC CCCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCC CCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTC CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCCTCCCCTCCCCTCCCCTCCCTCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCATCCTCCCCTCACCCCTTT CCCCCTTCCCCCCTTCCCCTCACCCTTTCCCCTTCCCCCCTTCCCCCACC CCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCC CCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCC CGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCTCC CCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCTCC TTCCCCCTCCTTCCCCTCCTTCCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(819): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGGGA AAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGGT GGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGGG AAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAA GGGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAG GGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGG AGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGGAGG GGAGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGGAG GGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGA AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGGAGGGAAGAGAGGGAGGGGGAGAGGGAGGGAAGGGAGGGAGG GGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGG ATGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGA GGGGGAGGGAAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGG GAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0011 a0004c0004t0011	a0004c0004t0011g0029 a0004c0004t0011g0029	1	272	0.0037	826	c.250 others(841): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCATCCC TCCTCCCTCCCCCTCCCCCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCT CCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTTCC CTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTC CCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTC CCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCCCTTC CCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCC CCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACC CCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCC CCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCT TCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(819): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGG GAGGGGCAGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCG GGGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGG GGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAG GGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGG GGGAAAGGGGTGAGGGGAGGATGGAGGGGGGAGGGGAGGGGAGGGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGA GGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAG GGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGGG AGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGAAGAGAGGGAGGGGGAGAGGGAGGGAAGGGAGGGGGAG GGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTG GAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGG AGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGA GGGGGAGGGAAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGG GAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	272	0.0037	826	c.250 others(841): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCC TCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCAC TCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTC CCCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCC CCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTC CCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCT TCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTT TCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCA CCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGC CCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCC TTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCT TCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(819): Show AAGGGGGGAAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAG GGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGG GAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGG AAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGG AAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAA GGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTG AGGGGAGGATGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAG GGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGGA GGGGGAGGGGAGGGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGAAGAGAGGGAGGGGGAGAGGGAGGGAAGGGAGGGGGAG GGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTG GAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGG AGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGA GGGGGAGGGAAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGG GAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0145 a0001c0001t0003g0145	1	272	0.0037	826	c.250 others(841): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCC TCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCAC TCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTC CCCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCCTCCCCTCCCCCTCC CCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCATCCTCCCCTCAC CCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTC CCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCC CCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCC CCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCC CTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTC CTTCCCCCTCCTTCCCCCTCCTTCCCCCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MSR1_chr8_16102881_16197651	16189588	A A	ATATTTTA others(819): Show ATATTTTATATATATATAAAATCTTATTTTATATATATTTGATATATATT TTTTATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATATAAAATCTTATTTTATATATATTTTATATATATTTTATATATAT ATAAAATCTTACTTTATATTTTATATATATGAAATCTTACTTTATATATA TTTTATATATATATAAAATCTTACTTTATATATATTTTATATATATAAAA TCTTATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTAT ATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATA TATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTT ATATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATA TATATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATT TTATATATATTTTATATATATATAAAATAAGATTTTATATATATATAAAA TAAGATTTTATATATATATAAAATAAGATTTTATATATATATAAAATAAG ATTTTATATATATATAAAATAAGATTTTATATATATATAAGATTTTATAT ATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTATATATAT ATAAAATAAGATTTTATATATATATAAAATATATATAAAATCTTATTTTA TATATATTTTATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	330	0.0030	826	c.-5+ others(841): Show c.-5+3009_-5+3010insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATTTTATATATATATAAAATCTTATTTTATATA TATATAAAATCTTATTTTATATATATATAAAATCTTATTTTATATATATA TAAAATCTTATATATATATAAAATCTTATTTTATATATATATAAAATCTT ATTTTATATATATATAAAATCTTATTTTATATATATATAAAATCTTATTT TATATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAAT CTTATTTTATATATATATAAAATATATATAAAATCTTATTTTATATATAT ATAAAATATATATAAAATCTTATTTTATATATATATAAAATATATATAAA ATCTTATTTTATATATATATAAAATATATATAAAATCTTATTTTATATAT ATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATATATA AAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTATAT ATATATAAAATATATATAAAATAAGATTTTATATATATAAAATAAGATTT TATATATATAAAATATATATAAAGTAAGATTTTATATATATATAAAATAT ATATAAAGTAAGATTTCATATATATAAAATATAAAGTAAGATTTTATATA TATATAAAATATATATAAAATATATATAAAATAAGATTTTATATATATAT AAAATATATATAAAATAAGATTTTATATATATATAAAATATATAAAAAAT ATATATCAAATATATATAAAATAAGATTTTATATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(819): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGG GAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGA GGGGAAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGG AGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAG GAAGGGGAGGGAGGAGGGGAGGAGGGGGAGGGAGGAGGGGAGGGGAGGAG GGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGAGGGGAGGGGAGGAGGGG GAGGGGAGGAGGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGG AGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAG GGGAGGAGGGGGAGGGGAGGGGGGGAGGGGAGGGGGGGAGGAGGGGAGGG GAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAAAGGA AGGGAGGGAAGGGGAGGGGAGGAGTGGAGAGGAGGATGAGGGGAGGGGAG GGGAGGAGTGGAGAGGAGGGTAAGGGAAGGAAGCAGAGGAGGGAGGAGTG GAGAGGAGGGGAAGGGAGGGGAGGGGTGCGGGAGGGGAGGGGTGCGGGAG GGGAGGGTAAGGGAAGGGAGGGGAGGGTGGGGGAGGGGAGGGAAGAGGAG TGGAGAGGAGGAGAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0162 a0001c0005t0001g0162	1	208	0.0048	826	c.279 others(841): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCTTCCCCTCCTCTCCAC TCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTCCCCTC CCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCCCTTCC TTTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCTCCCCTC CCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCT CCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCTCCCTCCCCTTCCTC CCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCC CCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCTCC CCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCC CTTCCCCTCCCCTCCCCTTCCCCTCCCCTTCCCACCCCTCCCTTCTCCTT CCCCCTCCCCTTCCCTCCCTTCCCTTCTCCCCCCTCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar

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