JoGo: Joint Open Genome and Omics Platform

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
YBEY_chr21_46281342_46302751	46294546	T T	TCAGCCAC others(733): Show TCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CTGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGAAGTGAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCC ACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCAC GCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0347 a0001c0001t0002g0347	1	404	0.0025	740	c.340 others(757): Show c.340-1609_340-1608insGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCTGTGCCCGGGACTCAGTGGGGACAGCCACACAAGT TAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCAGCCACACAAGTTA AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGGGACAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294687	A A	AGTGGGGA others(733): Show AGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGT TAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAAC TCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAG TGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTA GCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTC TAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTG GGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGG GACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGT CAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0219	1	404	0.0025	740	c.340 others(757): Show c.340-1471_340-1470insGGACAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCC ACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCAC GCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCC GGGACTCGGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294687	A A	AGTGGGGA others(733): Show AGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGT TAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAAC TCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAG TGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTA GCCTGACCCGTGCCCGGGACTCAGTGGAATCAGCCACACAAGTTAAACTC TAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTG GGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGG GTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGA TTAAATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGT CAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCGGAAGTGAGTGGAGTCGGCCACGCAAGTTAGACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	404	0.0025	740	c.340 others(757): Show c.340-1471_340-1470insGGACAGCCACGCAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAATCAG CCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCC ACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCAT GCCCGGGACTCAGTGGGGTCAGCCACACAAGTTAAACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCAC ACAAGTTAAACTCTAGATTAAATTCCTCCCGTGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCGGCCACGC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCC GGGACTCGGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294693	G G	GTCAGCCA others(733): Show GTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGT CAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCA GCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGC CACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAAT TCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCA CACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCTGTG CCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTC CTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCGGTGGAA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	404	0.0025	740	c.340 others(757): Show c.340-1461_340-1460insACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAA GTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTA AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCTGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCGGT GGAATCAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294693	G G	GTCAGCCA others(733): Show GTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCCGGACTCAGTGGAGT CAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCA GCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGC CACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAAT TCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCA CACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTG CCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTC CTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCGGTGGAA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18960.hp1 NA19066.hp2 others(1): Show NA18943.hp2 NA18960.hp1 NA19066.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0098 a0001c0001t0001g0001 a0001c0001t0001g0098	4	404	0.0099	740	c.340 others(757): Show c.340-1461_340-1460insACAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCCG GACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGA CTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTA GACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCGGT GGAATCAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(733): Show TCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCT TTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCC CTCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCT TCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTCC CCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCC CCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCC CCTTCCCCCCTTTTCCCTTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCT TTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02809.hp1 HG03453.hp1 HG02622.hp1 HG02809.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0059 a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0059	3	246	0.0122	740	c.-10 others(757): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCC CCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTT CCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTT CCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCC CTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTTCCCTTTCCCCCCTTT CCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCC CCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ZZEF1_chr17_3999445_4148030	4018987	G G	GTTTTTTT others(733): Show GTTTTTTTTTTTTTTTTTTTTTTTAATTTATTTTTTTATTGATAATTCTT GGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAATAGTGGA GGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGG CAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTACTTGAGA TTAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGT TTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGA CACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCA ACAGGATCCCAAGACAGAGGAATTTTTCTTAGTGCAGAACAAAATGAAAA GTCTCCCATGTCTACTTCTTTCTACACAGACACGGCAACTATCCGATTTC TCAATCTTTTCCCCGCCTTTCCCGCCTTTCTATTCCACAAGGCCGCCATT GTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTCCCAGACGGG GTGGTGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGAC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02970.hp1 HG02970.hp2 others(3): Show HG01099.hp1 HG02970.hp1 HG02970.hp2 HG03453.hp2 HG03579.hp1 NA20300.hp2	a0005 a0005	a0005c0005 a0005c0058 a0005c0005 a0005c0058	a0005c0005t0006 a0005c0005t0007 a0005c0005t0011 others(1): Show a0005c0005t0006 a0005c0005t0007 a0005c0005t0011 a0005c0058t0011	a0005c0005t0006g0005 a0005c0005t0007g0015 a0005c0005t0007g0017 others(3): Show a0005c0005t0006g0005 a0005c0005t0007g0015 a0005c0005t0007g0017 a0005c0005t0011g0249 a0005c0005t0011g0250 a0005c0058t0011g0248	6	296	0.0203	740	c.750 others(757): Show c.7505+681_7505+682insGTCCAGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGTC AGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCAGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAAC GGGCCAGGATGACAATGGCGGCCTTGTGGAATAGAAAGGCGGGAAAGGCG GGGAAAAGATTGAGAAATCGGATAGTTGCCGTGTCTGTGTAGAAAGAAGT AGACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAAAATTCCTCTGT CTTGGGATCCTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGA AACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGA TGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCAT CACCAATCCCTAATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCC GCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATC TGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCT GTGAGAAACACCCAAGAATTATCAATAAAAAAATAAATTAAAAAAAAAAA AAAAAAAAAAAA	ZZEF1	ENSG00000074755.15	transcript	ENST00000381638.7	protein_coding	46/54			chr17	TogoVar
ADARB1_chr21_45069580_45231560	45156122	T T	TCCACCCA others(734): Show TCCACCCATCATCACCTATCATCCATCATCCATTCATCCACCCATCCATC CACCTACCCATCATCACCCATCATCGTCATCCATCCATCCATCCACCCAC CCACCCACCCATCATCACCCATCACCCATCATCTATCTATCCATCCATCC ACCCATCCATCATTACCCATCATCCATCTATCCATGCACCCACCCACCAT CACCCATCATCCACCCACCCAACCACCCACCATCACCCATCATCCATCAT CCATTCATCCATCCATCTGCCCACCCACCCATCATCCATTCATCCATCCA TCCACCCACCCATCATCACCTATCATCCATCATCCATTCATCCATCCATC CATCCACCTACCCATCATCACCCATCATCTGTCATCCATCCATCCATCCA TCCACCCACCCATCATCACCCATCACCCATCATCCATCCATCCATCCACC CACCCATCATCACCCATCACCCATCATCCATCTATCCATCCACCCACCCA TCATCACCCATCACCCATCATCCATCCATCCATCCATCCACCCACCCATC ATCACCCATCACCCATCATCTATCTATCCATCCATCCACCCACCCATCAT TACCCATCATCCATCTATCCATGCACCCACCCACCATCACCCATCATCCA CCCACCCAACCACCCACCATCACCCATCATCCATCATCCATTCATCCATC CATCTGCCCACCCACCCATCATCCATTCATCCATCCATCCAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG02015.hp1 others(12): Show HG00438.hp2 HG00609.hp1 HG02015.hp1 HG02040.hp2 HG02080.hp2 HG02165.hp1 HG02523.hp2 HG03834.hp2 NA18612.hp1 NA18959.hp2 NA18973.hp1 NA19004.hp1 NA19010.hp1 NA19066.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0023 a0001c0001t0036 a0001c0001t0042 others(9): Show a0001c0001t0023 a0001c0001t0036 a0001c0001t0042 a0001c0001t0112 a0001c0001t0125 a0001c0001t0128 a0001c0002t0001 a0001c0002t0024 a0001c0002t0038 a0001c0002t0121 a0001c0002t0122 a0001c0002t0127	a0001c0001t0023g0192 a0001c0001t0036g0133 a0001c0001t0042g0182 others(12): Show a0001c0001t0023g0192 a0001c0001t0036g0133 a0001c0001t0042g0182 a0001c0001t0042g0193 a0001c0001t0112g0176 a0001c0001t0125g0180 a0001c0001t0128g0175 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0024g0181 a0001c0002t0024g0183 a0001c0002t0038g0184 a0001c0002t0121g0190 a0001c0002t0122g0179 a0001c0002t0127g0185	15	350	0.0429	741	c.-47 others(760): Show c.-47-15449_-47-15448insCCCATCCATCCACCTACCCATCATCA CCCATCATCGTCATCCATCCATCCATCCACCCACCCACCCACCCATCATC ACCCATCACCCATCATCTATCTATCCATCCATCCACCCATCCATCATTAC CCATCATCCATCTATCCATGCACCCACCCACCATCACCCATCATCCACCC ACCCAACCACCCACCATCACCCATCATCCATCATCCATTCATCCATCCAT CTGCCCACCCACCCATCATCCATTCATCCATCCATCCACCCACCCATCAT CACCTATCATCCATCATCCATTCATCCATCCATCCATCCACCTACCCATC ATCACCCATCATCTGTCATCCATCCATCCATCCATCCACCCACCCATCAT CACCCATCACCCATCATCCATCCATCCATCCACCCACCCATCATCACCCA TCACCCATCATCCATCTATCCATCCACCCACCCATCATCACCCATCACCC ATCATCCATCCATCCATCCATCCACCCACCCATCATCACCCATCACCCAT CATCTATCTATCCATCCATCCACCCACCCATCATTACCCATCATCCATCT ATCCATGCACCCACCCACCATCACCCATCATCCACCCACCCAACCACCCA CCATCACCCATCATCCATCATCCATTCATCCATCCATCTGCCCACCCACC CATCATCCATTCATCCATCCATCCACCCACCCATCATCACCTATCATCCA TCATCCATTCATCCA	ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
AGXT_chr2_240863824_240885500	240872327	G G	GAGGAGGG others(734): Show GAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCG TGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGG AGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAA CATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGG TGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAG GAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGT TCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGG AGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACAT GCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAG TTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGTAGGCGGAG GAGGGTGAGAGTTCGTGAACATGGAGGCGGAGGAGTGTGAGAGTTCGTGA ACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGG GTGAGAGTTCGTGAACATGCAGCAGGAGGGTGAGAGTTCGTGAACATGCA GGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTC GTGAACATGGAGGCGGAGGAGGATGAGAGTTCGTGAACATGC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02717.hp1 HG03139.hp2 others(1): Show HG01261.hp1 HG02717.hp1 HG03139.hp2 HG03579.hp1	a0003 a0009 a0003 a0009	a0003c0004 a0009c0016 a0003c0004 a0009c0016	a0003c0004t0006 a0009c0016t0009 a0003c0004t0006 a0009c0016t0009	a0003c0004t0006g0034 a0009c0016t0009g0128 a0003c0004t0006g0034 a0009c0016t0009g0128	4	444	0.0090	741	c.525 others(756): Show c.525-646_525-645insGTGAGAGTTCGTGAACATGCAGGAGGAGGA GGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAAC ATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGT GAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGC AGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTT CGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGA GGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAAC ATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAG AGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGG AGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAA CATGTAGGCGGAGGAGGGTGAGAGTTCGTGAACATGGAGGCGGAGGAGTG TGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATG CAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGCAGGAGGGTGAGAGT TCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGG AGGGTGAGAGTTCGTGAACATGGAGGCGGAGGAGGATGAGAGTTCGTGAA CATGCAGGAGG	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(734): Show GAAGGGAAGGGGAAGAAGAGAAGGAAGGGGAAGGAAAGGGAAGGGAACGG GGAAGGGAAGGGGAAGGGAAGGAAGGGTTGGGAAGGGAAGGGAAGGGTGG GTTGGGGTTGGAAAGGGAAGGGATGGGAAGGGAAGGGGGAAAAGGAAGGA AGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAAAAAGGAAGGG AAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAGGAACGGGAAGGATGGGGT TGGGGAAGGGTTGGGAAGGGAATGGGGAAAAGGAAGGGGAAGGGAAGGAA GGGGGAAGGGAAGGGGAGGGAAAGGGAAGAAGGAAGGGGTTGGGAATGGG TAGGGAAGGGAAAGGGAAGGGAAAGGTAAGGGAAAGGGTTAGGGAAGGGA AGGGGAAGGGGTAGGGAAGGGGAAGGGGAGGGTTGGGGATGGGAAATGTA TTGGGAATGGTGAGGGGAAGGGTTTGGGAGGGGAAGGGAAGGGGAAGGGG AAGGAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGGTAGCAA AGGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGAGG AAGGAAGGACGGATGGGACGGACAGGACGAAAAAAAGAGAGGGGAGGGGA AGAGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	242	0.0041	741	c.927 others(758): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCT CCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCC ATCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTT TCCTTTCTTTCCCTTTGCTACCCCCTTCACTTCCCCCTCCCCTTCCCTTC CCCTTCCTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCAAACCCTTCCC CTCACCATTCCCAATACATTTCCCATCCCCAACCCTCCCCTTCCCCTTCC CTACCCCTTCCCCTTCCCTTCCCTAACCCTTTCCCTTACCTTTCCCTTCC CTTTCCCTTCCCTACCCATTCCCAACCCCTTCCTTCTTCCCTTTCCCTCC CCTTCCCTTCCCCCTTCCTTCCCTTCCCCTTCCTTTTCCCCATTCCCTTC CCAACCCTTCCCCAACCCCATCCTTCCCGTTCCTTTCCCCTTCCCTTCCC CTTCCCTTCCCCTTCCCTTCCTTTTTCCCCTTCCCTTTCCCCTTTCCTTC CCTTCCCTTCCCCTTCCTTCCTTTTCCCCCTTCCCTTCCCATCCCTTCCC TTTCCAACCCCAACCCACCCTTCCCTTCCCTTCCCAACCCTTCCTTCCCT TCCCCTTCCCTTCCCCGTTCCCTTCCCTTTCCTTCCCCTTCCTTCTCTTC TTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(734): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGA AGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAA GGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAG GGGAAAAGGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAG GGGAAAAGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAA GGGAAGGGAAGGGGAAGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAG GGAAAAGGAAGGGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGG AAGGGAAAGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAAGGGAAGGGG AAGGGGAAGGGAAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAAAAG TAAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGGAAGGG GAAGGAAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCA AAGGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGAG GAAGGAAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGAGGGGA AGAGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02523.hp2 HG03669.hp2 others(1): Show HG02155.hp2 HG02523.hp2 HG03669.hp2 NA18948.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0010 a0001c0003t0003 a0001c0003t0010	a0001c0003t0003g0081 a0001c0003t0003g0101 a0001c0003t0003g0105 others(1): Show a0001c0003t0003g0081 a0001c0003t0003g0101 a0001c0003t0003g0105 a0001c0003t0010g0082	4	242	0.0165	741	c.927 others(758): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCT CCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCA TCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTT CCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCC CTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCC TCTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCC TTTCCCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCC CTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCTTCCCTT CCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTTCCCTTCCCTT CCCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTT CCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCTT CCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTT CCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCTTCCCTTTC CCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCTTCCC TTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(734): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAA AGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAA GGGAAGGGGAAAAGGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAA GGGAAGGGGAAAAGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAA AAGGAAGGGAAGGGAAGGGGAAGGGAAGGGAAGGGAATGGGAAAAGGAAG GGGAAGGGAAAAGGAAGGGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGG AAGGGGAAGGGAAAGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAAGGG AAGGGGAAGGGAAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAAAAG TAAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGGAAGGG GAAGGAAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCA AAGGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGAG GAAGGAAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGAGGGGA AGAGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03130.hp1 HG01081.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0016 a0001c0002t0001 a0001c0002t0016	a0001c0002t0001g0003 a0001c0002t0016g0005 a0001c0002t0001g0003 a0001c0002t0016g0005	2	242	0.0083	741	c.927 others(758): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCT CCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCA TCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTT CCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCC CTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCC TCTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCC TTTCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCC TTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCTTCCCTTCCCCTT CCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTTCCCTTCCCTTCCCCTT CCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTC CTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCTTCCCTTC CTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCCCTTC CCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCTTCC CTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCC TTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(734): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAGGGAAGGAAAG GGAAGGGAAAGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAGGGGAAAGG ATGGGAAGGGGAAGGGAAGGGAGGAAAGGGGAAAGGGAAGGGGAAAAGGA AGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGAAAAGGAAGGGAAGGGAAG GGGAAGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAAGGAAG GGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGGG AAGGGAAGGGAAAGGGAAGGGAAAGGAAAGGGAAAGGGAAAGGGAAGGGG AAGGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAAAAG TAAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGGAAGGG GAAGGAAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCA AAGGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGAG GAAGGAAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGAGGGGA AGAGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	242	0.0041	741	c.927 others(758): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCT CCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCA TCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTT CCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCC CTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCC TCTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCC TTCCCCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTTCCTTTCCCTTCC CTTTCCCTTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTT CCCCTTCCCTTCCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCT TCCCTTCCCTTCCCCTTCCCTTCCCTTCCTTTTCCCTTCCCTTCCCCTTC CCTTCCCCTTCCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTCCCTTCC CTTCCCCTTCCCATCCTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTCCCT TCCCTTTCCCTTCCCTTTCCTTCCCTTCCCTTCCCTTTCCCTTCCCTTCC CCTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCC TTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(734): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAGGGAAAGGGAAGGGAA AGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAA GGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAAA AGGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAAA AGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGAAGGAAGGAAGGAAG GGAAAGGAAGGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAA GGAAGGGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGA AAGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGAAAGGGA AGGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGG AAAAGTAAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGG AAGGGGAAGGAAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGG TAGCAAAGGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGA GGGAGGAAGGAAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGA GGGGAAGAGAGGGGAGGGGAGGGAAGAGAAGAAAAGGGAAGGGAGGAAGG AAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	242	0.0041	741	c.927 others(758): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTCTTCTCTTCCCTCCCCT CCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCATCCGT CCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTTCCTTT CTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCCCTTCC TTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCCTCTCC TTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCCTTCCC CTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTC CCTTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCT TCCCTTCCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTTCCCT TCCCCTTCCTTTCCCTTCCTTCCTTCCTTCCCTTCCCTTCCCCTTCCCTT CCCCTTCCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTT CCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTT CCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTC CCCTTCCCTTCCCTTTCCCTTCCCTTTCCCTCCCCTTCCCTTCCCTTCCC TTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(734): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGAAGGGA AGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGAA GGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAA GGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAAAAGGAA GGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAGGGAAG GGGAAGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAAGGAAG GGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGGG AAGGGAAGGGAAAGGGAAGGGAAAGGAAAGGGAAAGGGAAAGGGAAGGGG AAGGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAAAAG TAAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGGAAGGG GAAGGAAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCA AAGGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGAG GAAGGAAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGAGGGGA AGAGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	242	0.0041	741	c.927 others(758): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCT CCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCA TCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTT CCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCC CTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCC TCTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCC TTCCCCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTTCCTTTCCCTTCC CTTTCCCTTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTT CCCCTTCCCTTCCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCT TCCCTTCCCTTCCCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTT CCCTTCCCCTTCCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTT CCCTTCCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTT CCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTC CCTTCCCCTTCCCTTCCCTTCCCTTCCCTTTCCCTTCCCCTTCCCTTCCC TTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP39_chr8_144524179_144690846	144687461	G G	GGTGAGCA others(734): Show GGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCA CCCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACAC ACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCAC TTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGAC CACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGT GAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCC CCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACATACT AGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTT CCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACC ACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGA GCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCG TGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGC GGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTGAGCACTTCCCA CCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGACCACAC ACTGGCGGTGAGCACTTCCCACCCCGTGACCACACATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	246	0.0041	741	c.-18 others(752): Show c.-1858_-1857insTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGG TCACGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAG TGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTG TGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTG GGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGC CAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCAC GGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGC TCACCGCTAGTATGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGT GGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGG AAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCC AGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGG GGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGT CACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAG TGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1616		chr8	TogoVar
C4orf50_chr4_5954375_6023431	6004348	A A	ATGTGGTG others(734): Show ATGTGGTGGTGATGGTGATGGTGACTGTGATGGTGATGGTGATGATGGTG ATGGTGATGGTGATGATGGTGATGATGGTGATGGTGATGATGTGATGGTG ATGTTGATGATGGTGGTGATGGTGATGATGTGATGGCGATGATAGTGATG ATGGTGATGATGGTGATGGTGATGATGTGATAGTGATGATGGTGATGATG CTGATGGTGATGATGGTGATAGTGATGATGGTGATGGTGATGATGGTGAT GATGGTGATGGTGATTATGGTGATGATGGGATGGTGATGTTGATGATGGT GGTGATGGTGATGATGTGATGGCGATGATAGTGATGATGGTGATGATGGT GATGGTGATGATGTGATGGTGATGATAGTGATGATGGTGATGATGGTGAT GATGGTGATGGTGATGATGGTGATGGTGATGGTGATGATAGTGATGATGG TGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGATGGTG ATGATGGTGACGGTGATGATGTGATGGTGATGATGGTGATGATGGTGATG GTGATGATGGTGATGGTGATGATGGTGATGATGGTGATGGTGATGATGGT GATGATGTGATGGTGATGATGTTGATGATGGTGATGATGGTGATGATGGT GATGGTGATGATGGTGATGGTGATGATGGTGATGATGTTGATGATGGTGA TGATGGTGATGATGGTGATGGTGATGATAGTGATGATGGTGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02818.hp1 HG02280.hp2 HG02818.hp1	a0090 a0102 a0090 a0102	a0090c0102 a0102c0113 a0090c0102 a0102c0113	a0090c0102t0000 a0102c0113t0000 a0090c0102t0000 a0102c0113t0000	a0090c0102t0000g0283 a0102c0113t0000g0028 a0090c0102t0000g0283 a0102c0113t0000g0028	2	346	0.0058	741	c.963 others(758): Show c.963+3647_963+3648insCCACCATCATCACTATCATCACCATCAC CATCATCACCATCATCACCATCATCAACATCATCACCATCATCACCATCA CCATCATCACCATCACCATCATCACCATCATCACCATCATCAACATCATC ACCATCACATCATCACCATCATCACCATCACCATCATCACCATCATCACC ATCACCATCATCACCATCACCATCATCACCATCATCACCATCACATCATC ACCGTCACCATCATCACCATCATCACCATCATCACCATCACCATCATCAC CATCACCATCATCACCATCATCACTATCATCACCATCACCATCACCATCA TCACCATCACCATCATCACCATCATCACCATCATCACTATCATCACCATC ACATCATCACCATCACCATCATCACCATCATCACTATCATCGCCATCACA TCATCACCATCACCACCATCATCAACATCACCATCCCATCATCACCATAA TCACCATCACCATCATCACCATCATCACCATCACCATCATCACTATCACC ATCATCACCATCAGCATCATCACCATCATCACTATCACATCATCACCATC ACCATCATCACCATCATCACTATCATCGCCATCACATCATCACCATCACC ACCATCATCAACATCACCATCACATCATCACCATCACCATCATCACCATC ATCACCATCACCATCACCATCATCACCATCACCATCACAGTCACCATCAC CATCACCACCACA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
CENPM_chr22_41933737_41952152	41939818	A A	AAAAGAAA others(734): Show AAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAA GAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAAAGAAAGAAAAAGAAAGA AAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAA GAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGA AAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGA AAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAA AAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAG AAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAG AAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAA AGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAA AGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAA AGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAA AGAAAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAA AGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 homoSapiens_chm13v2.hp1 HG01081.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0011 a0001c0003t0002g0011	2	258	0.0078	741	c.403 others(756): Show c.403-623_403-622insCTTTTTCTTTCTTTCTTTCTTTCTTTCTTT TTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTT CTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTT CTTTTTCTTTCTTTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTT TTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT CTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTT CTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCT TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCT TTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTT CTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTT CTTTCTTTCTTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTT TCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTT TCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTT TTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTTTCTTTCTTTCTT TCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTT TTTCTTTCTTT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(734): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGGGGGAGGAGGGGGAGCTGGGGAG GGGGGAGGAGGGGAGCAGGGGAGGGGGGGAGGAGGGGAGCAGGGGAGGGG GGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGGAGCTGGGGAGGGGG GAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGA GGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGAGGAGGG GGAGCAGGGGAGGGGGGAGGAGGGGGGAGCAGGGGAGGGGGGGAGGAGGG GAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGA GCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCT GGGGAGGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGG GGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGAGGAGGGGGAGCTGGGGAG GGGAGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAG GGGAGGGGGGAGGAGGGAGAGCAGGGAGGGGGGAGGAGGGGGAGCTGGGG AGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGG GGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGG AGGAGGGGGAGCAGTGGAGGGGGAGAAGAGGAGGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	168	0.0060	741	c.-26 others(750): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCTCCACTGCTCCC CCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCT CCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCT CCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCTGCTCTCCCTCCTCCCC CCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCT CCTCCCCTCCCCAGCTCCCCCTCCTCCCCTCCCCAGCTCCCCCTCCTCCC CCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCC CTCCCCAGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTC CCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCC CAGCTCCCCTCCTCCCCCCCTCCCCTGCTCCCCCCTCCTCCCCCCTCCCC TGCTCCCCCTCCTCCCCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCC CCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCC CTCCTCCCCCCTCCCCAGCTCCCCCCTCCTCCCCCCTCCCCAGCTCCCCC TCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCCTCCCCTGCTCCCCTCC TCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCCTGCTCCCCCTCCTCCCC CCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
DLGAP2_chr8_732628_1713476	1508454	T T	TGCAAACC others(734): Show TGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCCACCCCTCA CCACCCCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCA CCCCTCACCACCCCCTGCAAACCCCCACCCCCCCCACAAACCCCCGCCAC CCCCTGCAAACCCCCGCCACCCCCTGCAAACCCCCGCCACCCCCTGCAAA CCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCCACCCCTC ACCACCCCCTGCAAACCCCCACCCCCCCCCCGCAAACCCCCGCCACCCTC TGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCAC CACCCCCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCA CCCCTCACCACCCCCTGCAAACCCCCACCCCCCCCACAAACCCCCGCCAC CCCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCC TCACCACCCCCTGCAAACCCCCGCCACCCCCTGCAAACCCCCGCCACCCC CTGCAAACGCCCACCACCCCCCACCCCTCACCACCCCCTGCAAACCCCCG CCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCACCACCCCCTGCAA ACCCCCACCCCCCCCACAAACCCCCGCCACCCCCTGCAAACCCCCGCCAC CCCCTGCAAACGCCCACCACCCCCCACCCCTCACCACCCCCC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0039 a0001c0002t0009g0039	1	40	0.0250	741	c.172 others(758): Show c.172+7063_172+7064insCACCCCTCACCACCCCCTGCAAACCCCC GCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCACCACCCCCTGCA AACCCCCACCCCCCCCACAAACCCCCGCCACCCCCTGCAAACCCCCGCCA CCCCCTGCAAACCCCCGCCACCCCCTGCAAACCCCCGCCACCCCCTGCAA ACGCCCACCACCCCCCACCCCTCCACCCCTCACCACCCCCTGCAAACCCC CACCCCCCCCCCGCAAACCCCCGCCACCCTCTGCAAACCCCCGCCACCCC CTGCAAACGCCCACCACCCCCCACCCCTCACCACCCCCCTGCAAACCCCC GCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCACCACCCCCTGCA AACCCCCACCCCCCCCACAAACCCCCGCCACCCCCTGCAAACCCCCGCCA CCCCCTGCAAACGCCCACCACCCCCCACCCCTCACCACCCCCTGCAAACC CCCGCCACCCCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCC CCCACCCCTCACCACCCCCTGCAAACCCCCGCCACCCCCTGCAAACGCCC ACCACCCCCCACCCCTCACCACCCCCTGCAAACCCCCACCCCCCCCACAA ACCCCCGCCACCCCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCA CCCCCCACCCCTCACCACCCCCCGCAAACCCCCGCCACCCCCTGCAAACG CCCACCACCCCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
EHBP1_chr2_62700713_63051487	62730862	G G	GCAGACAG others(734): Show GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA GACAGAGAGAGAGACAGAGACAGGGAGAGAGAGAGACAGAGAGAGACAGA CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGACAGAGACAGGCAGA GAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGAGAGAGAGAGA CAGAGAGACAGAGAGAGAGACAGGCAGAGAGAGAGAAACAGACAGACAGG GAGAGAGAGAGACTGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGAC ACAGTGAGACAGGGAGAGAGAGAGACAGACAGACAGGGAGAGAGAGAGAG AGACTGACAGACAGACAGACAGGCAGAGAAAGAGAATAAGACAGAAGACA GACACAGTGAGACAGAGAGAGACAGAGACAGAGAGACAGAAAGAGACAGA CAAAGACAGAGACGGACAGAGAGAGACAGAGACAGAGAGAGACAGAGAGA GAGAGAGAGAAACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	198	0.0051	741	c.105 others(760): Show c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGGAGAGAGAGA GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA GACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACA GGCAGAGAGAGAGAGACAGAGAGACAGAGAGAGAGACAGGCAGAGAGAGA GAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGAAT AAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAGAC AGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAGAG AATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGAGA GACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGACA GAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACACA CACACACACAGACAG	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHBP1_chr2_62700713_63051487	62730862	G G	GCAGACAG others(734): Show GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA GACAGAGAGAGAGACAGAGACAGGGAGAGAGAGAGACAGAGAGAGACAGA CAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAGAGAG ACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCAGAGA GAGAGAGACAGGTGGAGAGAGAGAGAGAGAGACAGAGACAGGCAGAGAGA GAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGAGAGAGAGAGACAGA GAGACAGAGAGAGAGACAGGCAGAGAGAGAGAGAGAAACAGACAGACAGG GAGAGAGAGAGACTGACAGGCAGAGAAAGAGAATAAGACAGAAGACAGAC ACAGTGAGACAGGGAGAGAGAGAGACAGACAGACAGGGAGAGAGAGAGAG AGACTGACAGACAGACAGACAGGCAGAGAAAGAGAATAAGACAGAAGACA GACACAGTGAGACAGAGAGAGACAGAGACAGAGAGACAGAAAGAGACAGA CAAAGACAGAGACGGACAGAGAGAGACAGAGACAGAGAGAGACAGAGAGA GAGAGAGAGAAACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	198	0.0051	741	c.105 others(760): Show c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGGAGAGAGAGA GACAGAGAGAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGAC ACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAG AAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGACA GAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCA GAGAGAGAGAGACAGAGAGACAGAGAGAGAGACAGGCAGAGAGAGAGAGA GAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGAAT AAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAGAC AGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAGAG AATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGAGA GACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGACA GAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACACA CACACACACAGACAG	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
FAM120B_chr6_170301758_170412067	170399854	A A	ACTCTTAG others(734): Show ACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAG TGAGTGGGGAAGGTAGAACTATGTCATAAGCCTTAGGAGTGAGTGAGAAA GGTAGAACTATGTCATAACCCTTAGGAGTGAGTGGGGAAGGTAGAACTAT GTCATAACCCTTAGGAGTGAGTGAGGAAGGTAGAACTATGTCATAACCCT TAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGT GGGGAAGGTAGAACTATGTCATAAGCCTTAGGAGTGAGTGGGGAAGGTAG AACTATGTCTTAACTCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCAT AACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGA GTGAGTGAGAAAGGTAGAACTACGTCATAAGCCTTAGGAGTGAGTTGGGA AGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTA TGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACTT AGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGAAGTGAGTG GGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGA ACTATGTCATAACTCTTAGTAGTGAGTGGGGAAGGTAGAACTATGTCATA ACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0226 a0001c0001t0014g0226	1	289	0.0035	741	c.269 others(760): Show c.2692+4277_2692+4278insCTTAGGAGTGAGTGGGGAAGGTAGAA CTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAA GCCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACCCTTAGGAGT GAGTGGGGAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGAGGAAG GTAGAACTATGTCATAACCCTTAGGAGTGAGTGGGGAAGGTAGAACTATG TCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAAGCCTT AGGAGTGAGTGGGGAAGGTAGAACTATGTCTTAACTCTTAGGAGTGAGTG GGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGA ACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTACGTCATA AGCCTTAGGAGTGAGTTGGGAAGGTAGAACTATGTCATAACTCTTAGGAG TGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAA GGTAGAACTATGTCATAACTTAGGAGTGAGTGGGGAAGGTAGAACTATGT CATAACTCTTAGAAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTA GGAGTGAGTGAGAAAGGTAGAACTATGTCATAACTCTTAGTAGTGAGTGG GGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAA CTATGTCATAACCCT	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FLT3_chr13_27998274_28105576	27998945	T T	TTATATGC others(734): Show TTATATGCATATACATATATATTTATATGCATATAAATATATATGTATAT ACATATAAATATATATGTATATACATATAAATATATGTATATACATATAA ATATATATGTATATACATATAAATATATATGTATATACATATATATATGT ATATACATATATATATATGTATATACATATATATATGTATATACATATAA ATATATGTATATACATATAAATATATATGTATATACATATAAATATATAT GTATATACATATAAATATATATGTATATACATATAAATATATATGTATAT ACATATAAATATATATGTATGTATATTATATACATATAAATATATATATT TATATACATATAAATATATATATTTATATACATATAAATATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATATTTATA TACATATAAATATATATTTATATACATATAAATATATATTTATATACATA TAAATATATATTTATATACATATAAATATATATTTACATACATATAAATA TATATTTACATACATATAAATATATACATTTATATACATATAAATATATA CATATATACATATAAATATATATTTATATACATATAAATATATATATTTA TATATATTTATATATATATAAATATATATATATTTATATATATATAAATA TATATATATTTATATATATATAAATATATATATATTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	292	0.0034	741	c.51 others(752): Show c.5106_*5107insTATATAAATATATATATATTTATATATATATAAA TATATATATATTTATATATATATAAATATATATATATTTATATATATATA AATATATATAAATATATATATTTATATGTATATAAATATATATTTATATG TATATATGTATATATTTATATGTATATAAATGTATATATTTATATGTATG TAAATATATATTTATATGTATGTAAATATATATTTATATGTATATAAATA TATATTTATATGTATATAAATATATATTTATATGTATATAAATATATATT TATATGTATATAAATATATATATTTATATGTATATAAATATATATATTTA TATGTATATAAATATATATATTTATATGTATATAAATATATATATTTATA TGTATATAAATATATATATTTATATGTATATAATATACATACATATATAT TTATATGTATATACATATATATTTATATGTATATACATATATATTTATAT GTATATACATATATATTTATATGTATATACATATATATTTATATGTATAT ACATATATTTATATGTATATACATATATATATGTATATACATATATATAT ATGTATATACATATATATATGTATATACATATATATTTATATGTATATAC ATATATATTTATATGTATATACATATATTTATATGTATATACATATATAT TTATATGTATATACATATATATTTATATGCATATAAATATATATGTATAT GCATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4328		chr13	TogoVar
FLT3_chr13_27998274_28105576	27998945	T T	TTATATGC others(734): Show TTATATGCATATACATATATATTTATATGCATATAAATATATATTTATAT ACATATAAATATATATGTATATACATATAAATATATGTATATACATATAA ATATATATGTATATACATATAAATATATATGTATATACATATATATATGT ATATACATATATATATATGTATATACATATATATATGTATATACATATAT ATATATGTATATACATATAAATATATATGTATATACATATAAATATATAT GTATATACATATAAATATATATGTATATACATATAAATATATATGTATAT ACATATAAATATATATGTATGTATATTATATACATATAAATATATATATT TATATACATATAAATATATATATTTATATACATATAAATATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATATTTATA TACATATAAATATATATTTATATACATATAAATATATATTTATATACATA TAAATATATATTTATATACATATAAATATATATTTACATACATATAAATA TATATTTACATACATATAAATATATACATTTATATACATATAAATATATA CATATATACATATAAATATATATTTATATACATATAAATATATATATTTA TATATATTTATATATATATAAATATATATATATTTATATATATATAAATA TATATATATTTATATATATATAAATATATATATATTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG02523.hp2 HG01928.hp2 HG02523.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0087 a0004c0005t0001g0206 a0001c0001t0001g0087 a0004c0005t0001g0206	2	292	0.0069	741	c.51 others(752): Show c.5106_*5107insTATATAAATATATATATATTTATATATATATAAA TATATATATATTTATATATATATAAATATATATATATTTATATATATATA AATATATATAAATATATATATTTATATGTATATAAATATATATTTATATG TATATATGTATATATTTATATGTATATAAATGTATATATTTATATGTATG TAAATATATATTTATATGTATGTAAATATATATTTATATGTATATAAATA TATATTTATATGTATATAAATATATATTTATATGTATATAAATATATATT TATATGTATATAAATATATATATTTATATGTATATAAATATATATATTTA TATGTATATAAATATATATATTTATATGTATATAAATATATATATTTATA TGTATATAAATATATATATTTATATGTATATAATATACATACATATATAT TTATATGTATATACATATATATTTATATGTATATACATATATATTTATAT GTATATACATATATATTTATATGTATATACATATATATTTATATGTATAT ACATATATATATATGTATATACATATATATATGTATATACATATATATAT ATGTATATACATATATATATGTATATACATATATATTTATATGTATATAC ATATATATTTATATGTATATACATATATTTATATGTATATACATATATAT TTATATGTATATAAATATATATTTATATGCATATAAATATATATGTATAT GCATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4328		chr13	TogoVar
FLT4_chr5_180596506_180654600	180635677	A A	ATGAAGTA others(734): Show ATGAAGTATGGGTGGATGGGTGGGTGGACGGATGGATGGATGGAAGTATG GGTGGATGGGTGGGTGGGTGGATGCATGGATGGATGGAAGTATGGGTGGA TGGGGTGGGTGGACGGATGGATGGATGAAGTATGGGTGGATGGGTGGGTG GGTGGATGCATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGG TGGGATGGATGCATGGATGGATTGGAAGTATGGGTGGATGGGTGGGTGGA CGGATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGATGCATG GATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGCA TGGATGCATGGAAGTATGGGTGGATGGGTGGGTGAGTGGGTGGATGGAAG TATGGGTGGATGGGTGGGTGGATGGGTGGATGGATGCATGTATGGAAGTA TGGATGGATGAGTGGATGGGTGGGTGGGTGGATGCATAGATGGATGGAAG TATGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGCATGGATGGAAGTA AGGGTGGATGGGTGGATGGGTGGGTGAGTGGGTGGATGCATGGATGGATG GAAGTATGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGCATGGATGGA AGTAAGGGTGGATGGGTGGATGGGTGGGTGAGTGGGTGGATGCATGGATG GATGGAAGTATGGGTGGATGGGTGGATGGGTGGGTGGGTAGG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0015 a0007c0010t0015	a0007c0010t0015g0252 a0007c0010t0015g0252	1	388	0.0026	741	c.59- others(756): Show c.59-3900_59-3899insCCTACCCACCCACCCATCCACCCATCCACC CATACTTCCATCCATCCATGCATCCACCCACTCACCCACCCATCCACCCA TCCACCCTTACTTCCATCCATGCATCCATCCACCCACCCACCCACCCATC CACCCATACTTCCATCCATCCATGCATCCACCCACTCACCCACCCATCCA CCCATCCACCCTTACTTCCATCCATGCATCCATCCACCCACCCACCCACC CATCCACCCATACTTCCATCCATCTATGCATCCACCCACCCACCCATCCA CTCATCCATCCATACTTCCATACATGCATCCATCCACCCATCCACCCACC CATCCACCCATACTTCCATCCACCCACTCACCCACCCATCCACCCATACT TCCATGCATCCATGCATCCATCCACCCACCCACCCACCCATCCACCCATA CTTCCATCCATCCATGCATCCACCCACCCACCCATCCACCCATACTTCCA TCCATCCATCCGTCCACCCACCCATCCACCCATACTTCCAATCCATCCAT GCATCCATCCCACCCACCCACCCACCCATCCACCCATACTTCCATCCATC CATGCATCCACCCACCCACCCATCCACCCATACTTCATCCATCCATCCGT CCACCCACCCCATCCACCCATACTTCCATCCATCCATGCATCCACCCACC CACCCATCCACCCATACTTCCATCCATCCATCCGTCCACCCACCCATCCA CCCATACTTCA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(734): Show TCCCCTTTCCCCCCTCTCCCTCCCCTTTCCCCCCCTCTCCCTCCCTCCCC TCTCTCCCCCCTCTCCCTCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTC TCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCCCTT CCCCCCTCTCCCTCCCTACCCTCTCTCCCCCCTCTCCCTCCCTCCCCTCA CCCCCCCTCCCTCCCCTCTCTTCCCTCTCCCCCTCTCTCTCCCTCCCTCT CCCTCCCCCTCCCTCCCTCTCCCTCTCTCCCCCCTCCCCCTCTCCCTCTT TCTCCTTCCCGCTCCCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTTT CTCCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTC CCTCTCTCCCCTCTCTCCATCCTCCCCTCTCTTCCTCCCTGTCTCCCCCT CTCCCCCCCCTCCTTCTCTCCCCCCCTCTCCCTCTCCCCCCCTCCCTCTC TCCCCCTGCCCTCTCCCCCTCCCTCTCTCCCCCCTCCCCCTCTTCCCCTC CCTCTCTCCCCCTCCTTCTCCCTCTCTCCCCACCTCCTTCTCCCTCTCTC CCCCCCCTTTCCCTCCCTCTCCCTCTCTCTCCCTCCCTCTCCCTCTCCCC CCTCCCCCCCTCTCCCTCTCCCCCCTCCCCTCTTTCCCCCCCTTTCCTTC CTCCCCTCTCTCCCACTCTCTGTCCCCCTCTCCCTGTCCTCC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0202 a0002c0006t0004g0202	1	230	0.0044	741	c.126 others(758): Show c.1260+931_1260+932insGGAGGACAGGGAGAGGGGGACAGAGAGT GGGAGAGAGGGGAGGAAGGAAAGGGGGGGAAAGAGGGGAGGGGGGAGAGG GAGAGGGGGGGAGGGGGGAGAGGGAGAGGGAGGGAGAGAGAGGGAGAGGG AGGGAAAGGGGGGGGAGAGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAG GAGGGGGAGAGAGGGAGGGGAAGAGGGGGAGGGGGGAGAGAGGGAGGGGG AGAGGGCAGGGGGAGAGAGGGAGGGGGGGAGAGGGAGAGGGGGGGAGAGA AGGAGGGGGGGGAGAGGGGGAGACAGGGAGGAAGAGAGGGGAGGATGGAG AGAGGGGAGAGAGGGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAG GGAGCGGGAAGGAGAAAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGG GAGCGGGAAGGAGAAAGAGGGAGAGGGGGAGGGGGGAGAGAGGGAGAGGG AGGGAGGGGGAGGGAGAGGGAGGGAGAGAGAGGGGGAGAGGGAAGAGAGG GGAGGGAGGGGGGGTGAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGTAGG GAGGGAGAGGGGGGAAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGGAGGG AGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGG AGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGGAAAGGGGAGGGAGA GGGGGGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(734): Show TCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCCTCC CCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCC CCTTCCCCCCTCTCCCTCCCTACCCTCTCTCCCCCCTCTCCCTCCCTCCC CTCACCCCCCTCCCTCCCCTCTCTTCCCTCTCCCCCTCTCTCTCCCTCCC TCTCCCTCCCCCTCCCTCCCTCTCCCTCTCTCCCCCTCTCCCCCTCTCCC TCTTTCTCCTTCCCGCTCCCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCC CTCTTTCTCCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCCTC CCCCTCTTTCTCCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCC CTCCCCCTCCCTCTCTCCCCTCTCTCCATCCTCCCCTCTCTTCCTCCCTG TCTCCCCCTCTCCCCCCCCTCTCCTTCTCTCCCCCCCTCTCCCTCTCCCC CCTCCCTCTCTCCCCCTGCCCCTCTCTCCCCCCCTCCCTCTCTCCCCCCT CCCCCTCTTCCCCTCCCTCTCTCCCCCTCCTTCTCCCTCTCTCCCCACCT CCTTCTCCCTCTCTCCCCCCCCTTTCCCTCCCTCTCCCTCTCTCTCCCTC TCCCCCCTCCCCCCTCTCCCTCTCCCCCCCTCCCTCTTTCCCCCCTTTCC TTCCTCCCCTCTCTCCCACCCTCTGTCCCCCTCTCCGTCTCC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0145 a0001c0002t0002g0145	1	230	0.0044	741	c.126 others(758): Show c.1260+931_1260+932insGGAGACGGAGAGGGGGACAGAGGGTGGG AGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGGGAGAGGGAGA GGGGGGAGGGGGGAGAGGGAGAGAGAGGGAGAGGGAGGGAAAGGGGGGGG AGAGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAGGGGGAGAGAGGG AGGGGAAGAGGGGGAGGGGGGAGAGAGGGAGGGGGGGAGAGAGGGGCAGG GGGAGAGAGGGAGGGGGGAGAGGGAGAGGGGGGGAGAGAAGGAGAGGGGG GGGAGAGGGGGAGACAGGGAGGAAGAGAGGGGAGGATGGAGAGAGGGGAG AGAGGGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGGA AGGAGAAAGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCG GGAAGGAGAAAGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGGGAGC GGGAAGGAGAAAGAGGGAGAGGGGGAGAGGGGGAGAGAGGGAGAGGGAGG GAGGGGGAGGGAGAGGGAGGGAGAGAGAGGGGGAGAGGGAAGAGAGGGGA GGGAGGGGGGTGAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGTAGGGAGG GAGAGGGGGGAAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGG AGAGGGGGGAAAGGGGAGGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGA GGGGGGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
GRAMD1B_chr11_123425269_123632767	123584374	T T	TGGGAGGG others(734): Show TGGGAGGGGGAATGGAGGTTGGGGGGAAAGGGTGTGGGGTGCGATTGGGG GAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGG GGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGA ATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGAATGGA GGTTGGGGGAAGGGGTGTGGGATGCGATTGGGGGAGGGGGAATGGAGGTT GGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGG GAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAA GGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGG GTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTG TGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGG GGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTG CGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGATGCGA TTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGG GGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGA GGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02630.hp1 HG02818.hp2 others(1): Show HG02622.hp1 HG02630.hp1 HG02818.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0065 a0001c0001t0066 a0001c0001t0008 a0001c0001t0065 a0001c0001t0066	a0001c0001t0008g0227 a0001c0001t0008g0282 a0001c0001t0065g0188 others(1): Show a0001c0001t0008g0227 a0001c0001t0008g0282 a0001c0001t0065g0188 a0001c0001t0066g0243	4	282	0.0142	741	c.684 others(754): Show c.684+66_684+67insGAAAGGGTGTGGGGTGCGATTGGGGGAGGGGG AATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATG GAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGG TTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGAATGGAGGTTGGG GGAAGGGGTGTGGGATGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAA GGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGG TGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGT GGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGG GTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGGTG CGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGGTGCGA TTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGG GGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGATGCGATTGGGGG AGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGG GGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAA TGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGA GGTTGGGGG	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRIN2A_chr16_9748408_10187428	10040002	C C	CACACACA others(734): Show CACACACACATCCACACTATACATACACGCTCGCAACTTCGCACGCTCAC AGTGCACACACACCCACAAACACACCCAACACACACATCCACACCACGCA AATACACTGCACACACACGCAACACAACCATACCACACACACAAATACAC AACACACACATCTACACCATACACACTCGCAACTTCACACTCACAGTGCA CACGTGCACACCCACAAATGCACCCAATACACACATCTACACCAAGCACA CAAATAAACTACACACAGAACATACATCCACACAATACACAACACACACA CAACTTCACAGTGCACACGCACTCACCCACAAACATACCCAACACATACG TCCACACCACACACACAAATACACCACACACATCCACACCACACACACAA ATACACCACACACATCCACACCACACACACAAATACACTACACACACATC CACACCACACACAAATACACAACACACACATCCACACACCACACACACAA ATACGCTACACACATCCACACACCACACAAATACACCACACCATCCACAC ACCACACACACAAATACACACCATCCACACCACACACAAATACACAACAC ACAAATACACAACACACAACACACACATCCACACCACACACATACACTAC ACACATCCCCACCACACACACAAATACACTACACACATCCCCATCACACA CACAAATACACTACACACATCCACACCACACACAAATACACT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01099.hp2 HG01981.hp2 others(2): Show HG00408.hp1 HG01099.hp2 HG01981.hp2 NA18998.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0017 others(1): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0017 a0001c0001t0060	a0001c0001t0002g0038 a0001c0001t0002g0054 a0001c0001t0013g0059 others(2): Show a0001c0001t0002g0038 a0001c0001t0002g0054 a0001c0001t0013g0059 a0001c0001t0017g0053 a0001c0001t0060g0052	5	168	0.0298	741	c.415 others(762): Show c.415-101452_415-101451insAGTGTATTTGTGTGTGGTGTGGAT GTGTGTAGTGTATTTGTGTGTGTGATGGGGATGTGTGTAGTGTATTTGTG TGTGTGGTGGGGATGTGTGTAGTGTATGTGTGTGGTGTGGATGTGTGTGT TGTGTGTTGTGTATTTGTGTGTTGTGTATTTGTGTGTGGTGTGGATGGTG TGTATTTGTGTGTGTGGTGTGTGGATGGTGTGGTGTATTTGTGTGGTGTG TGGATGTGTGTAGCGTATTTGTGTGTGTGGTGTGTGGATGTGTGTGTTGT GTATTTGTGTGTGGTGTGGATGTGTGTGTAGTGTATTTGTGTGTGTGGTG TGGATGTGTGTGGTGTATTTGTGTGTGTGGTGTGGATGTGTGTGGTGTAT TTGTGTGTGTGGTGTGGACGTATGTGTTGGGTATGTTTGTGGGTGAGTGC GTGTGCACTGTGAAGTTGTGTGTGTGTTGTGTATTGTGTGGATGTATGTT CTGTGTGTAGTTTATTTGTGTGCTTGGTGTAGATGTGTGTATTGGGTGCA TTTGTGGGTGTGCACGTGTGCACTGTGAGTGTGAAGTTGCGAGTGTGTAT GGTGTAGATGTGTGTGTTGTGTATTTGTGTGTGTGGTATGGTTGTGTTGC GTGTGTGTGCAGTGTATTTGCGTGGTGTGGATGTGTGTGTTGGGTGTGTT TGTGGGTGTGTGTGCACTGTGAGCGTGCGAAGTTGCGAGCGTGTATGTAT AGTGTGGATGTGTGTGT	GRIN2A	ENSG00000183454.18	transcript	ENST00000330684.4	protein_coding	2/12			chr16	TogoVar
GTPBP6_chrX_299759_323796	322506	A A	AAAAAAAA others(734): Show AAAAAAAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTG GTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAG TTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAA AAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTTCCTGTGGTCCCAGC TGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACGC CAGCATGGGCAATATGGTAAGACCCTATTATCTACAAAAAAAAAAAAAAA AAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTGCCTGTGGT CCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTT TGACGCCAGCATGGGCAATATGGTAAGACCCTATTATCTACAAAAAAAAA AAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTGCCTGT GGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGA GTTTGACGCCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAA AAAAAAAAAAAAGAAAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTGG TCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGT TTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0124 a0002c0002t0001g0124	1	155	0.0065	741	c.-37 others(752): Show c.-3720_-3719insGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTTTCTTTT TTTTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGG CGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAG CTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTCTTTT TTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGCCCATGC TGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAG CAGCTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTCT TTTTTTTTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGC CCATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGT CCCGAGCAGCTGGGACCACAGGAACCCACCACCACGCCCGGCTTTTCTTT TTTTTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTG GTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCA GCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTCTTTTCTT TTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3711		chrX	TogoVar
HNF4A_chr20_44350699_44437845	44404776	T T	TGTGTTTG others(734): Show TGTGTTTGTTGATGTGTGTGTATGTGTGCGTGTGTGTGAATTGTGTGTGT TCATGTTCGGACTGTGTGTGTGTATGTAAGTGTGTGTGCGTGTGTGTGAC TGTGTGTGCCTGTGTGGACTGCTGTGTGTGCGTGGACTGTGTGGTGTGGG TGTGTGCGTGTGTGTGGACTGTGTGGTGTGGGTGTGTGCATGTGTGTGGA CTGTGTGGTGTGGGTGTGTGCGTGTGTGTGTGACCATGTGGAGTGTGTCT GTGTGCATGTGTGGGCTGTGTGGTGCGTGTGTGCTTATGTTTGGCGTGTG TGTGTGTGTGTGTGGACTGTGTGGTCTGTGTGTGTGTGCGTGTGTGTGGA CTCTGTGGTGTGTGCATGTGTGCATGTATGTGCGTGTGTGTGACTGTGTG GTGTGTGTCTGTGTGCACGTGTGGGCTTATATTTGGTGTGTGTGCATGTG TGGACCGTGTGGTGTGTGTGTGTGCGTGTGTGGACTGTAGTGTGTGTGCA CGTGTGTGTGTGCTTGTGTGTGGACTGTGTGTGTGTGGACTGTGGTGTGT GTGCGTGACTGTGGTGTGTGTGCATGACTGTGTGGTGTGTGTGTGCATGT GTGTGGATTGTGTGGTGTGTGGACTGTGGGTGTGTGGTGCGTGTGTGTGC TTGTGTGTGGTGTGTGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTG CTTGTGTGTGGACTGTGGATTGTGTGGTGTGTGTGTGCGCAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03486.hp1 HG01261.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0056 a0001c0001t0011 a0001c0001t0056	a0001c0001t0011g0257 a0001c0001t0056g0117 a0001c0001t0011g0257 a0001c0001t0056g0117	2	322	0.0062	741	c.50- others(756): Show c.50-1278_50-1277insTTGTTGATGTGTGTGTATGTGTGCGTGTGT GTGAATTGTGTGTGTTCATGTTCGGACTGTGTGTGTGTATGTAAGTGTGT GTGCGTGTGTGTGACTGTGTGTGCCTGTGTGGACTGCTGTGTGTGCGTGG ACTGTGTGGTGTGGGTGTGTGCGTGTGTGTGGACTGTGTGGTGTGGGTGT GTGCATGTGTGTGGACTGTGTGGTGTGGGTGTGTGCGTGTGTGTGTGACC ATGTGGAGTGTGTCTGTGTGCATGTGTGGGCTGTGTGGTGCGTGTGTGCT TATGTTTGGCGTGTGTGTGTGTGTGTGTGGACTGTGTGGTCTGTGTGTGT GTGCGTGTGTGTGGACTCTGTGGTGTGTGCATGTGTGCATGTATGTGCGT GTGTGTGACTGTGTGGTGTGTGTCTGTGTGCACGTGTGGGCTTATATTTG GTGTGTGTGCATGTGTGGACCGTGTGGTGTGTGTGTGTGCGTGTGTGGAC TGTAGTGTGTGTGCACGTGTGTGTGTGCTTGTGTGTGGACTGTGTGTGTG TGGACTGTGGTGTGTGTGCGTGACTGTGGTGTGTGTGCATGACTGTGTGG TGTGTGTGTGCATGTGTGTGGATTGTGTGGTGTGTGGACTGTGGGTGTGT GGTGCGTGTGTGTGCTTGTGTGTGGTGTGTGTGCGTGTGTGTGGACTGTG TGGTGCGTGTGTGTGCTTGTGTGTGGACTGTGGATTGTGTGGTGTGTGTG TGCGCACGTGT	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
IFITM3_chr11_314676_325860	321644	C C	CGGATTAT others(734): Show CGGATTATCCCATTACCTTCACTATGGTGCCCAGGCAGCTGGATTATCCC ATAACCCTCACTGTGGTGCCCAGGCAGCCGGATTATCCCATTACCTTCAG TGTGGTGCCCAGGCAGCCGGATTATCCCATTACCTTCAGTGTGGTGCCCA GGCAGCTGGATTATCCCATAACCCTCACTGTGGTGCCCAGGCAGCTGGAT TATCCCATTACCTTCACTATGGTGCCCAGGCAGCTGGATTATCCCATAAC CCTCACTGTGGTGCCCAGGCAGCCGGATTATCCCATTACCTTCAGTGTGG TGCCCAGGCAGCCGGATTATCCCATTACCTTCAGTGTGGTGCCCAGGCAG CTGGATTATCCCATTACCTTCACTATGGTGCCCAGGCAGCTGGATTATCC CATAACCCTCACTGTGGTGCCCAGGCAGCCGGATTATCCCATTACCTTCA GTGTGGTGCCCAGGCAGCCGGATTATCCCATTACCTTCAGTGTGGTGCCC AGGCAGCTGGATTATCCCATAACCCTCACTGTGGTGCCCAGGCAGCTGGA TTATCCCATTACCTTCACTATGGTGCCCAGGCAGCTGGATTATCCCATAA CCCTCACTGTGGTGCCCAGGCAGCCGGATTATCCCATTACCTTCAGTGTG GTGCCCAGGCAGCCGGATTATCCCATTACCTTCAGTGTGGTGCCCAGGCA GCTGGATTATCCCATAACCCTCACTGTGGTGCCCAGGCAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00735.hp1 others(1): Show HG00099.hp2 HG00639.hp1 HG00735.hp1 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	4	31	0.1290	741	c.-15 others(751): Show c.-1572_-832dupAGCTGCCTGGGCACCACAGTGAGGGTTATGGGATA ATCCAGCTGCCTGGGCACCACACTGAAGGTAATGGGATAATCCGGCTGCC TGGGCACCACACTGAAGGTAATGGGATAATCCGGCTGCCTGGGCACCACA GTGAGGGTTATGGGATAATCCAGCTGCCTGGGCACCATAGTGAAGGTAAT GGGATAATCCAGCTGCCTGGGCACCACAGTGAGGGTTATGGGATAATCCA GCTGCCTGGGCACCACACTGAAGGTAATGGGATAATCCGGCTGCCTGGGC ACCACACTGAAGGTAATGGGATAATCCGGCTGCCTGGGCACCACAGTGAG GGTTATGGGATAATCCAGCTGCCTGGGCACCATAGTGAAGGTAATGGGAT AATCCAGCTGCCTGGGCACCACACTGAAGGTAATGGGATAATCCGGCTGC CTGGGCACCACACTGAAGGTAATGGGATAATCCGGCTGCCTGGGCACCAC AGTGAGGGTTATGGGATAATCCAGCTGCCTGGGCACCATAGTGAAGGTAA TGGGATAATCCAGCTGCCTGGGCACCACAGTGAGGGTTATGGGATAATCC AGCTGCCTGGGCACCACACTGAAGGTAATGGGATAATCCGGCTGCCTGGG CACCACACTGAAGGTAATGGGATAATCCGGCTGCCTGGGCACCACAGTGA GGGTTATGGGATAATCCAGCTGCCTGGGCACCATAGTGAAGGTAATGGGA TAATCC	IFITM3	ENSG00000142089.17	transcript	ENST00000399808.5	protein_coding		785		chr11	TogoVar
IQCA1_chr2_236319151_236512476	236345131	G G	GCCCTGGT others(734): Show GCCCTGGTTGTGAACGTGCTTCCCTCTGGGGTGTGCAGAGCCCTGGTTGT AAATGTGCTTCCCTCTGGGGTGTGCAGAGCCCTGGTTGTAAATGCGCTTC CCTCTGGGGTGTGCAGAGCCCTGGTTGTAAATGTGCTTCTCTCTCGGGTG TGCAGAGCCCTGGTTGTAAATGCGCTTCCCTCTGGGGTGTGCAGAGCCCT GGTTGTAAATGTGCTTCTCTCTCAGGTGTGCAGAGCCCTGGTTGTAAATG TGCTTCCCTCTGGGGTGTGCAGAGCCCTGGTTGTGAACGTGCTTCCCTCT GGGGTGTGCAGAGCCCTGGTTGTAAACGTGCTTCCCTCTGGGGTGTGCAG AGCCCTGGTTGTAAATGTGCTTCCCTCTGGGGTGTGCAGAGCCCTGGTTG TAAATGCACTTCCCTCTGGGGTGTGCAGAGCCCTGGTTGTAAATGCACTA CCCTCTCGGGTGTGCAGAACCCTGGTTGTAACTGTGCTTCCCTCTGGGGT GTGCAGAGCCCTGGTTGTAAACGTGCTTCCCTCTGGGGTGTGCAGAGCCC TGGTTGTAAATGTGCTTCCCTCTGGGGTGTGCAGAGCCCTGGTTGTAAAT GCACTTCCCTCTGGGGTGTGCAGAGCCCTGGTTGTAAATGCACTACCCTC TCGGGTGTGCAGAACCCTGGTTGTAACTGTGCTTCCCTTAGGGGTGTGCA GAGCCCTGGTTGTAAATGCACTTCCCTCTGGGGTGTGCAGAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0042 a0002c0002t0002g0042	1	208	0.0048	741	c.187 others(758): Show c.1870-489_1870-488insTTCTGCACACCCCAGAGGGAAGTGCATT TACAACCAGGGCTCTGCACACCCCTAAGGGAAGCACAGTTACAACCAGGG TTCTGCACACCCGAGAGGGTAGTGCATTTACAACCAGGGCTCTGCACACC CCAGAGGGAAGTGCATTTACAACCAGGGCTCTGCACACCCCAGAGGGAAG CACATTTACAACCAGGGCTCTGCACACCCCAGAGGGAAGCACGTTTACAA CCAGGGCTCTGCACACCCCAGAGGGAAGCACAGTTACAACCAGGGTTCTG CACACCCGAGAGGGTAGTGCATTTACAACCAGGGCTCTGCACACCCCAGA GGGAAGTGCATTTACAACCAGGGCTCTGCACACCCCAGAGGGAAGCACAT TTACAACCAGGGCTCTGCACACCCCAGAGGGAAGCACGTTTACAACCAGG GCTCTGCACACCCCAGAGGGAAGCACGTTCACAACCAGGGCTCTGCACAC CCCAGAGGGAAGCACATTTACAACCAGGGCTCTGCACACCTGAGAGAGAA GCACATTTACAACCAGGGCTCTGCACACCCCAGAGGGAAGCGCATTTACA ACCAGGGCTCTGCACACCCGAGAGAGAAGCACATTTACAACCAGGGCTCT GCACACCCCAGAGGGAAGCGCATTTACAACCAGGGCTCTGCACACCCCAG AGGGAAGCACATTTACAACCAGGGCTCTGCACACCCCAGAGGGAAGCACG TTCACAACCAGGG	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18			chr2	TogoVar
LAMC1_chr1_183018420_183150592	183149453	T T	TCCTCACA others(734): Show TCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCTCA CACCCCTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACC ACACAGCCCACACCCCTCTCCTCCTCACACCACACAGCTCACACCCCTCT CCTCACACACCACACAGCCCACACCCCTCTCCTGCTCACACCACACAGCC CACACCCCTGTCCTCCTCACACACCACACAGCCCACACCCCTCTCCTCCT CACACCACACAGCTCACACCCCTCTCCTCACACAACACACAGCTCACACC CCTCTCCTCCTCACACCACACAGCTCACATCCCTCTCCTCACACACCACA CAGCCCACACCCCTGTCCTCCTCACACACCACACAGCCCACACCCCTCTC CTCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCTC ACACCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACAC CACACAGCTCACATCCCTCTCCTCACACACCACACAGCCCACACCCCTCT CCTCCTCACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCC CACACCCCTCTCCTGCTCACACCACACAGCCCACACCCCTCTCCTCCTCA CACCACACAGCTCACACCCCTCTCCTCCTCACACACCACACAGCCCACAC CCCTCTCCTCCTCACACCACAGAGCCCACACCCCTCTCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02965.hp1 HG02559.hp2 HG02965.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0232 a0002c0008t0001g0233 a0002c0008t0001g0232 a0002c0008t0001g0233	2	308	0.0065	741	c.66 others(752): Show c.6663_*6664insCCTCACACCACAGAGCCCACACCCCTCTCCTCAC ACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACATCC CTCTCCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACCACAC AGCTCACACCCCTCTCCTCACACACCACACAGCCCACACCCCTCTCCTGC TCACACCACACAGCCCACACCCCTGTCCTCCTCACACACCACACAGCCCA CACCCCTCTCCTCCTCACACCACACAGCTCACACCCCTCTCCTCACACAA CACACAGCTCACACCCCTCTCCTCCTCACACCACACAGCTCACATCCCTC TCCTCACACACCACACAGCCCACACCCCTGTCCTCCTCACACACCACACA GCCCACACCCCTCTCCTCCTCACACCACAGAGCCCACACCCCTCTCCTCA CACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACACC CCTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCACAC AGCCCACACCCCTCTCCTCCTCACACCACACAGCTCACACCCCTCTCCTC ACACACCACACAGCCCACACCCCTCTCCTGCTCACACCACACAGCCCACA CCCCTCTCCTCCTCACACCACACAGCTCACACCCCTCTCCTCCTCACACA CCACACAGCCCACACCCCTCTCCTCCTCACACCACAGAGCCCACACCCCT CTCCTCA	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3862		chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(734): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCGG GCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACAT ACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTAC ATACCCGGGCCACTTACTTACCTACTACATACCCGGGCCGCTTACTTACC TACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA CTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGC CGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATAC CCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACT ACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTA CCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCT TACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGG GCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACAT ACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02165.hp1 HG02683.hp1 others(1): Show HG00099.hp1 HG02165.hp1 HG02683.hp1 NA18948.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0004 a0003c0005 a0004c0007 a0001c0004 a0003c0005 a0004c0007	a0001c0004t0027 a0003c0005t0002 a0003c0005t0028 others(1): Show a0001c0004t0027 a0003c0005t0002 a0003c0005t0028 a0004c0007t0009	a0001c0004t0027g0265 a0003c0005t0002g0074 a0003c0005t0028g0078 others(1): Show a0001c0004t0027g0265 a0003c0005t0002g0074 a0003c0005t0028g0078 a0004c0007t0009g0233	4	296	0.0135	741	c.368 others(758): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGTGGCCCGGGTATGTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTAAG TAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTA AGTAAGTAAGTGGCCCGGTATGTAGTAAGTACGTGGCCCGGGTATGTAGT AAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTA GTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATG TAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(734): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCGG GCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACAT ACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTAC ATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACC TACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA CTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGC CGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATAC CCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACT ACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTA CCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCT TACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGG GCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACAT ACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18945.hp2 HG00558.hp1 NA18945.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0185 a0002c0003t0002g0050 a0001c0001t0001g0185 a0002c0003t0002g0050	2	296	0.0068	741	c.368 others(758): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGCGGCCCGGGTATGTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTAAG TAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTA AGTAAGTAAGTGGCCCGGTATGTAGTAAGTACGTGGCCCGGGTATGTAGT AAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTA GTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATG TAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(734): Show GCCCTCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCTCCCTCCC CCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTTCCCTCC ACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCCTCCC CCTTCCCCTCCCCTCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCC TTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCTCCACC CTCCCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTCTTCCC CTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTTCCCCTC CCCTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTCCCCCTCCCTTC CCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCC TTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTCCC CTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCCTC ACCTCCCCTTCCCTCCCCCTCCCTTCCCTCCCTCCCCCCCTCCTCCCCCT CCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCAC CCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGT CCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0006 a0006	a0006c0039 a0006c0039	a0006c0039t0001 a0006c0039t0001	a0006c0039t0001g0118 a0006c0039t0001g0118	1	278	0.0036	741	c.115 others(758): Show c.1157+145_1157+146insTCCCCTCCCCGTCCCCTCCCTTCCCCTC CCCTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCC CTCCCCTTCCCTCCACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCT CCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCTCCCCCTTCCCCTCCCCTC CCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTC CCCTCCCCTCCACCCTCCCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCC CCTCCCCTCTTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTC CCTCCCTTCCCCTCCCCTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCC CTCCCCCTCCCTTCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTC CCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCC CCTCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCC CTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCTCCCTCCC CCCCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCC TCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCC CTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCT CCCCACCCCTCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MOCS1_chr6_39899170_39939462	39926745	G G	GGGAAGGG others(734): Show GGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGG AAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGG GGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGGAAGGGGGAAA GGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAG GGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGAG GGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGG GGAGGGGGAGGGGAGCGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGAGGG GGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGG GAGGGGAGGGGGGAGGGGAGGGGGGAGGGGGGAGGGGAGGGGGGAGGGGA GGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAG GGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGAG GGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGAGG GGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGG AGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAG GGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGAAGGGAGGGT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0171 a0002c0002t0004g0171	1	272	0.0037	741	c.250 others(756): Show c.250+583_250+584insACCCTCCCTTCCCCTCCCCTCCCTCCCCCT CCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCCC TCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCCT CCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTC CCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCT CCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTC CCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCC CCCTCCCCTCCCCCCTCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCGCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTC ACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCT TCCCCCCACCCCTTTCCCCCTTCCCCCCCGCCCCTTTTCCCCCCTTCCCC GCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCC GCCTTCCTCCTTCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCT TCCCCCCTTCC	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(734): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGG GGGAGGGGGAAAAGGGGCGGGGAAGGGGGGGAAAAGGGGCGGGGGGAAGG GGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGG GGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGAG GGGGAGGGGGGGGAGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGA GGGGAGGGGAGGGGGAGGGAGGGGGAGGGAGGGGAGGGGGGAGGGGAGGG GGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGA GGGGGGAGGGAGGGGGGAGGGGGAGGGTAGGGGGGGAGGGGGAGGGGAGG GGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGAGGAGGGGGGAGGGGAG GGGAGGGGAGGGGAGGAGGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGG GAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAG TGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGG AGGGAGGGGGAGGGGGAGGGAGGGGAGGGGAAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0225 a0002c0002t0004g0225	1	272	0.0037	741	c.250 others(756): Show c.250+581_250+582insCCACCCTCCCTTCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCTCCTC CCCTCCCCTCCCCTCCCCTCCCCCCTCCTCCCCTCCCCTCCCCCCTCCCC TCCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCCTACCCTCCCCCTCCCCC CTCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCTCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTC CCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCACCCCT TTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCC CACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCCTTCCCCGCCCCT TTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTC CTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCC CCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MPG_chr16_73225_90846	81975	A A	ACCCCTTC others(734): Show ACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCC GGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCC TCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGG GAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTA CCTCCGGGAAGGCCTCCTGAATGCTCCCGGCGCTGACCCCTTCTTCCCAC CACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTC TTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGA CCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCC GCGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAAT GCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCT CCTGAATGCTCCCGGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGG AAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAC CTCCGGGAAGCCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACC ACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGG	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA20129.hp1 HG03139.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	2	442	0.0045	741	c.301 others(758): Show c.301-1056_301-1055insCCTCCGGGAAGGCCTCCTGAATGCTCCC GGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCC TCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGG GAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTA CCTCCGGGAAGGCCTCCTGAATGCTCCCGGCGCTGACCCCTTCTTCCCAC CACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTC TTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGA CCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCC GCGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAAT GCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCT CCTGAATGCTCCCGGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGG AAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAC CTCCGGGAAGCCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACC ACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGGCCCCTTCT TCCCACCACCCTA	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	81997	T T	TCTCCGGG others(734): Show TCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCAC CACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTC TTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCACACTGA CCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCC GCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAAT GCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCT CCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGG AAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTAC CTCCGGGAAGCCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACC ACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCACACTGACCCCTTCT TCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGAC CCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCG CGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATG CTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTC CTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	442	0.0023	741	c.301 others(758): Show c.301-1045_301-1044insGCCTCCTGAATGCTCCCCACACTGACCC CTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCG CTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATGCT CCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCT GAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAG CCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTC CGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACC CTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCC CACCACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCACACTGACCCC TTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCACAC TGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTC CCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTG AATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGC CCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCC GGGAAGGCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCC TACCTCCGGGAAG	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(734): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATAAATATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATAAATATA TATATAAATATATATAAATATATATAAATATATATAAATATATATAAATA TATATAAATATATATTTAGCTATATTTATATCAGATAAAATGGATTAACA GTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAACGATAAAGC AGTCAATTCTTCAAGAGCATATAACTACTGTAAATATATATATTATATAT ATATAAAACCAAAACCAGAAGACCTAAATATATATATATATATAAAAAAC CAAAACCAGAGGACCTAAATATATATATATAAATATATAAATATATAAAT ATAAATATATAAATATATATATATAATTATATATATATATTTAGGTCCTC TGGTTTTGGTTTTTTTTATATATATATATATTTAGGTCTTCTGGTTTTGG TTTTATATATATATTTATATATTTATATAAATATAAATATATAAATATAT ATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATATG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0211 a0001c0001t0004g0211	1	312	0.0032	741	c.293 others(760): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAAAATA TATATAAATATATATATAAATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATATAAATA TATATAAATATATATAAATATATATAAATATATATAAATATATATAAATA TATATTTAGCTATATTTATATCAGATAAAATGGATTAACAGTCAAAAACT GTAAAATGAGACAAAGAAGGCCATTATATAACGATAAAGCAGTCAATTCT TCAAGAGCATATAACTACTGTAAATATATATATTATATATATATAAAACC AAAACCAGAAGACCTAAATATATATATATATATAAAAAACCAAAACCAGA GGACCTAAATATATATATATAAATATATAAATATATAAATATAAATATAT AAATATATATATATAATTATATATATATATTTAGGTCCTCTGGTTTTGGT TTTTTTTATATATATATATATTTAGGTCTTCTGGTTTTGGTTTTATATAT ATATTTATATATTTATATAAATATAAATATATAAATATATATAATTATAT ATATATTTAGGTCCTCTGGTTTTGGTTATATGTATATATATATATTTAGG TCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
NKAIN2_chr6_123798865_124830640	124687570	T T	TTCCATAC others(734): Show TTCCATACATATACATACATGGTATATATTCCATACATATACATACATGG TATATATTCCATATATATACATACATGGTATATATTCCATATATACATAC ATGGTATATATTCCTATATATACATACATGGTATATATTCCATATATATA CATACATGGTATATATTCCATATATATACATACATGGTATATATTCCATA TATATATACATACATGGTATATATTCCATATATATATACACATACATGGT ATATATTCCATATATATATACACATACATGGTATATATTCCATATATACA TACATGGTATATATTCCTATATATACATACATGGTATATATTCCAATATA TACATACATGGTATATATTCCATATATATACATACATGGTATATATTCCA TATATATATACATACATGGTATATATTCCATATATATACATACATGGAAT ATATATATTCCATACATGGAATATATATATTCCATATATACATATATATA TTCCATATATACACATATATATATTCCATATATACACATATACATGGAAT ATATATCTGTATATATATGGAATATATATATGTATATATATGAAATATAT ATGTATATGTATTTATATTATGTATTTATATTATAAATATATATTATGTA TATATATTTATATTATAAATATATATTATGTATATATTTATAATATAAAT ATATATTATGTATATATATTTATATTATAAATATATATTATG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0059 a0001c0001t0004g0059	1	66	0.0152	741	c.474 others(760): Show c.474+29184_474+29185insTCCATACATATACATACATGGTATAT ATTCCATACATATACATACATGGTATATATTCCATATATATACATACATG GTATATATTCCATATATACATACATGGTATATATTCCTATATATACATAC ATGGTATATATTCCATATATATACATACATGGTATATATTCCATATATAT ACATACATGGTATATATTCCATATATATATACATACATGGTATATATTCC ATATATATATACACATACATGGTATATATTCCATATATATATACACATAC ATGGTATATATTCCATATATACATACATGGTATATATTCCTATATATACA TACATGGTATATATTCCAATATATACATACATGGTATATATTCCATATAT ATACATACATGGTATATATTCCATATATATATACATACATGGTATATATT CCATATATATACATACATGGAATATATATATTCCATACATGGAATATATA TATTCCATATATACATATATATATTCCATATATACACATATATATATTCC ATATATACACATATACATGGAATATATATCTGTATATATATGGAATATAT ATATGTATATATATGAAATATATATGTATATGTATTTATATTATGTATTT ATATTATAAATATATATTATGTATATATATTTATATTATAAATATATATT ATGTATATATTTATAATATAAATATATATTATGTATATATATTTATATTA TAAATATATATTATG	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	4/6			chr6	TogoVar
NPRL3_chr16_80386_143673	81975	A A	ACCCCTTC others(734): Show ACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCC GGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCC TCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGG GAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTA CCTCCGGGAAGGCCTCCTGAATGCTCCCGGCGCTGACCCCTTCTTCCCAC CACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTC TTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGA CCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCC GCGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAAT GCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCT CCTGAATGCTCCCGGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGG AAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAC CTCCGGGAAGCCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACC ACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0002 a0009c0009t0002	a0009c0009t0002g0133 a0009c0009t0002g0133	1	350	0.0029	741	c.47 others(752): Show c.4729_*4730insCCAGCGTGGGGAGCATTCAGGAGGCCTTCCCGGA GGTAGGGTGGTGGGAAGAAGGGGTCAGTGTGGGGAGCATTCAGGAGGGCT TCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAG GAGGCCTTCCCGGAGATAGGGTGGTGGGAAGAAGGGGTCAGCGCCGGGAG CATTCAGGAGGGCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCG CGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGG GCCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGA AGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGT GGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAG GTAGGGTGGTGGGAAGAAGGGGTCAGCGCCGGGAGCATTCAGGAGGCCTT CCCGGAGGTAGGGTGGTGGGAAGAAGGGGCCAGCGTGGGGAGCATTCAGG AGGGCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGC ATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGC GGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGG TCAGCGCCGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAA GAAGGGG	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3410		chr16	TogoVar
NPRL3_chr16_80386_143673	81997	T T	TCTCCGGG others(734): Show TCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCAC CACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTC TTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCACACTGA CCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCC GCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAAT GCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCT CCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGG AAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTAC CTCCGGGAAGCCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACC ACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCACACTGACCCCTTCT TCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGAC CCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCG CGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATG CTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTC CTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	350	0.0029	741	c.47 others(752): Show c.4707_*4708insGTAGGGTGGTGGGAAGAAGGGGCCAGCGTGGGGA GCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGCCAGC GTGGGGAGCATTCAGGAGGGCTTCCCGGAGGTAGGGTGGTGGGAAGAAGG GGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGG AAGAAGGGGTCAGTGTGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGG TGGTGGGAAGAAGGGGTCAGTGTGGGGAGCATTCAGGAGGGCTTCCCGGA GGTAGGGTGGTGGGAAGAAGGGGTCAGTGTGGGGAGCATTCAGGAGGGCT TCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGTGTGGGGAGCATTCAG GAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAG CATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGTG TGGGGAGCATTCAGGAGGGCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGG GTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGA AGAAGGGGTCAGTGTGGGGAGCATTCAGGAGGGCTTCCCGGAGGTAGGGT GGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAG GTAGGGTGGTGGGAAGAAGGGGTCAGTGTGGGGAGCATTCAGGAGGCCTT CCCGGAG	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3388		chr16	TogoVar
OR11H4_chr14_20234286_20249349	20237753	A A	ACTATAGT others(734): Show ACTATAGTATATATAGTATATATACTATATGTAATATAGTATATATAGTA TATATATATACTACTATATATATAATAGTATATATAGGATATATATATAC TACTATATATAGTATATATAGTAGATATACTATATATACTATATAGTATA TATAGTATATCTACTATATAGTACATATAGTATATACAGTATATCTACTA TATAGTATATATAGTATATATACTATATAGTATATAGTATATATACTATA TATACTATAGAGTATATATAGTATATATAGTATATATACTATATACAGTA TATATAGTATATATAGTATATATACTATATATAGTATATATAGTATATAT ACTATATACAGTATATATAGTATATATAGTATATACAGTATATATAGTAT ATATAGTATATACAGTATATATAGTATATATAGTATATACAGTATATATA GTATATATAGTATATATACTATATATACTATATATAGTATATATAGTATA TATACTATATATACTATATATAGTATATATACTATATATAGTATATATAG TATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATAT AGTATATATACTCTATAGTATATATAGTATATATAGTATATATAGTATAT GTACTATATAGTACATATACTATATATAGTATATGTACTATATAGTACAT ATAGTATATATACTATATATACTATATATATAGTGTATATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0250	1	439	0.0023	741	c.-15 others(752): Show c.-1590_-1589insCTATAGTATATATAGTATATATACTATATGTAAT ATAGTATATATAGTATATATATATACTACTATATATATAATAGTATATAT AGGATATATATATACTACTATATATAGTATATATAGTAGATATACTATAT ATACTATATAGTATATATAGTATATCTACTATATAGTACATATAGTATAT ACAGTATATCTACTATATAGTATATATAGTATATATACTATATAGTATAT AGTATATATACTATATATACTATAGAGTATATATAGTATATATAGTATAT ATACTATATACAGTATATATAGTATATATAGTATATATACTATATATAGT ATATATAGTATATATACTATATACAGTATATATAGTATATATAGTATATA CAGTATATATAGTATATATAGTATATACAGTATATATAGTATATATAGTA TATACAGTATATATAGTATATATAGTATATATACTATATATACTATATAT AGTATATATAGTATATATACTATATATACTATATATAGTATATATACTAT ATATAGTATATATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA GTATATATAGTATATGTACTATATAGTACATATACTATATATAGTATATG TACTATATAGTACATATAGTATATATACTATATATACTATATATATAGTG TATATAG	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1532		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237753	A A	ACTATAGT others(734): Show ACTATAGTATATATAGTATATATACTATATGTAATATAGTATATATAGTA TATATATATACTACTATATATATAATAGTATATATAGGATATATATATAC TACTATATATAGTATATATAGTAGATATACTATATATACTATATAGTATA TATAGTATATCTACTATATAGTACATATAGTATATACAGTATATCTACTA TATAGTATATATAGTATATATACTATATAGTATATAGTATATATACTATA TATACTATAGAGTATATATAGTATATATAGTATATATACTATATACAGTA TATATAGTATATATAGTATATATACTATATATAGTATATATAGTATATAT ACTATATACAGTATATATAGTATATATAGTATATACAGTATATATAGTAT ATATAGTATATACAGTATATATAGTATATATAGTATATACAGTATATATA GTATATATAGTATATATACTATATATGCTATATATAGTATATATAGTATA TATACTATATATACTATATATAGTATATATACTATATATAGTATATATAG TATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATAT AGTATATATACTCTATAGTATATATAGTATATATAGTATATATAGTATAT GTACTATATAGTACATATACTATATATAGTATATGTACTATATAGTACAT ATAGTATATATACTATATATACTATATATATAGTGTATATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	439	0.0023	741	c.-15 others(752): Show c.-1590_-1589insCTATAGTATATATAGTATATATACTATATGTAAT ATAGTATATATAGTATATATATATACTACTATATATATAATAGTATATAT AGGATATATATATACTACTATATATAGTATATATAGTAGATATACTATAT ATACTATATAGTATATATAGTATATCTACTATATAGTACATATAGTATAT ACAGTATATCTACTATATAGTATATATAGTATATATACTATATAGTATAT AGTATATATACTATATATACTATAGAGTATATATAGTATATATAGTATAT ATACTATATACAGTATATATAGTATATATAGTATATATACTATATATAGT ATATATAGTATATATACTATATACAGTATATATAGTATATATAGTATATA CAGTATATATAGTATATATAGTATATACAGTATATATAGTATATATAGTA TATACAGTATATATAGTATATATAGTATATATACTATATATGCTATATAT AGTATATATAGTATATATACTATATATACTATATATAGTATATATACTAT ATATAGTATATATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA GTATATATAGTATATGTACTATATAGTACATATACTATATATAGTATATG TACTATATAGTACATATAGTATATATACTATATATACTATATATATAGTG TATATAG	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1532		chr14	TogoVar
P2RX5_chr17_3668227_3701155	3685648	G G	GCGTCCCC others(734): Show GCGTCCCCCGGCTCTCCCCCCCTCCCGCCCAGCCTCAGAACAGGAGAACG CACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAG CCTGAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAGCGT CCCCCGGCTCTCCCCCCCCTCCCGCCCAGCCTCAGAACAGGAGAACGCAC AGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTCAGAACA GGAGAACGCACAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCTCCCA GCCTGAGAACAGGAGAACGCACAGCGGGACCCCCAGGGACCCTCCCAACG TCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGGCCC CCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGA GAACGCACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCC TCAGAACAGGAGAACGCACAGCGGGACCCCCAGGGACCCTCCCAACGTCC CCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGACCCCCAGGGACCC TCCCAACGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAACACACAG CGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCA GAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCCCAA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0336 a0001c0001t0001g0336	1	362	0.0028	741	c.981 others(758): Show c.981+2363_981+2364insTTGGGAGGGTCCCTGGGGGCCCAGCTGT GCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACGTTGGGAGGGT CCCTGGGGGCCCCGCTGTGTGTTCTCCTGTTCTCAGGCTGGGCGGGGGGC GGGGGACGTTGGGAGGGTCCCTGGGGGTCCCGCTGTGCGTTCTCCTGTTC TCAGGCTGGGAGGGGGACGTTGGGAGGGTCCCTGGGGGTCCCGCTGTGCG TTCTCCTGTTCTGAGGCTGGGAGGGGGACGTTGGGAGGGTCCCTGGGGGC CCAGCTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACGTT GGGAGGGTCCCTGGGGGCCCCGCTGTGTGTTCTCCTGTTCTCAGGCTGGG CGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGTCCCGCTGTGCGTTC TCCTGTTCTCAGGCTGGGAGGGGGACGTTGGGAGGGTCCCTGGGGGTCCC GCTGTGCGTTCTCCTGTTCTGAGGCTGGGAGGGGGACGTTGGGAGGGTCC CTGGGGGTCCCGCTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGAGGGGG GGGAGAGCCGGGGGACGCTGGGAGGGTCCCTGGGGGCCCCGCTGTGTGTT CTCCTGTTCTCAGGCTGGGCGGGGGGCGGGGGACGTTGGGAGGGTCCCTG GGGGCCCCGCTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGAGGGGGGGA GAGCCGGGGGACG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PHF21B_chr22_44876162_45015005	44984159	C C	CACCACCA others(734): Show CACCACCATCATCACCATCACCACCACCATCACCACCACCACCATCATCA TCACCATCATCACAACCACCACCATCGTCACCACCATAACCAACACCATC ACAACCACCACCATCACCACAACCATCACCACCATCATCACCATCACCAC CACCATCATCACCATCACCACCACCATCACCATCACCACCATCACCACCA TCATCACCACCACCACCACCACCACCATCACCATCACCATCACCACCACC ATCACTACCATAACCACCATCACCATCATCACCATCATTACCACCATCAT CATCACCATCACCACCACCATCATCACCACCATCATCACCATAACCACCA CCACCATCACCATAACCATCACCACCATCATCACCATCACCACTACCGTC ACCATCACCACCACCATCACTACCATCACCATCACCACCACCATTATCAC CATCACCACCATCATCACCACCATCACCACCATCATCACCATCACCACCA CCATCACGATTATCACCATCACCGCCATCATTACCACCATCATCACCATC ACCACCACCATCACCACCGCCACCATCATCATCACCACCACCACCATCAC CAGCGCCACCACCACCATCACCATCACCACCACCACCATCACCATCACCA CCATCATCACCATTATCATCACCATTGTCACCATTATCACCATCATCACC ATTATCACCATTATCCTCACCATCACCACCATCACCATCACA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18969.hp1 NA18961.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0041 a0001c0001t0001 a0001c0005t0041	a0001c0001t0001g0059 a0001c0005t0041g0164 a0001c0001t0001g0059 a0001c0005t0041g0164	2	300	0.0067	741	c.120 others(760): Show c.120+24385_120+24386insTGTGATGGTGATGGTGGTGATGGTGA GGATAATGGTGATAATGGTGATGATGGTGATAATGGTGACAATGGTGATG ATAATGGTGATGATGGTGGTGATGGTGATGGTGGTGGTGGTGATGGTGAT GGTGGTGGTGGCGCTGGTGATGGTGGTGGTGGTGATGATGATGGTGGCGG TGGTGATGGTGGTGGTGATGGTGATGATGGTGGTAATGATGGCGGTGATG GTGATAATCGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGT GATGATGGTGGTGATGGTGATAATGGTGGTGGTGATGGTGATGGTAGTGA TGGTGGTGGTGATGGTGACGGTAGTGGTGATGGTGATGATGGTGGTGATG GTTATGGTGATGGTGGTGGTGGTTATGGTGATGATGGTGGTGATGATGGT GGTGGTGATGGTGATGATGATGGTGGTAATGATGGTGATGATGGTGATGG TGGTTATGGTAGTGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTG GTGGTGGTGGTGATGATGGTGGTGATGGTGGTGATGGTGATGGTGGTGGT GATGGTGATGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTTGTGG TGATGGTGGTGGTTGTGATGGTGTTGGTTATGGTGGTGACGATGGTGGTG GTTGTGATGATGGTGATGATGATGGTGGTGGTGGTGATGGTGGTGGTGAT GGTGATGATGGTGGT	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	2/12			chr22	TogoVar

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Search Results (Total: 8931 hits)