Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CACNA1C_chr12_2047987_2702950	2520198	A A	ACCAATGG others(911): Show ACCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATT GCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCAT TGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCA TTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTC ATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCT CATTGCCCAATGGCCATGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTC TCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTT CTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCT TCTCATTGCACAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTC TTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGT CTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAG TCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACA GTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGAC AGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGA CAGTCTTCTCATTGACCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATG ACAGTCTTCTCATTGACCAATGGCCGTGTGCTTCATAGGAGGGAAGCCAT GACAGTCTTCTCATTGACCAATGGCCGTGTGCTTCATAGGAGGGAAGCCA TGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCC ATGACAGTCTTCTCATTGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01071.hp2 others(11): Show HG00140.hp1 HG00140.hp2 HG01071.hp2 HG02040.hp2 HG02523.hp1 HG02683.hp2 HG03239.hp1 HG03239.hp2 HG04115.hp1 HG06807.hp1 HG06807.hp2 NA18966.hp2 NA18989.hp2 NA19003.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0010 others(3): Show a0001c0001 a0001c0002 a0001c0010 a0001c0014 a0001c0019 a0005c0030	a0001c0001t0002 a0001c0001t0004 a0001c0001t0022 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0022 a0001c0002t0001 a0001c0002t0003 a0001c0010t0008 a0001c0014t0039 a0001c0019t0003 a0005c0030t0001	a0001c0001t0002g0049 a0001c0001t0002g0096 a0001c0001t0004g0104 others(11): Show a0001c0001t0002g0049 a0001c0001t0002g0096 a0001c0001t0004g0104 a0001c0001t0022g0063 a0001c0002t0001g0024 a0001c0002t0001g0028 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0003g0061 a0001c0002t0003g0070 a0001c0010t0008g0069 a0001c0014t0039g0095 a0001c0019t0003g0076 a0005c0030t0001g0058	14	43	0.3256	918	c.139 others(937): Show c.1390+7469_1390+7470insCCAATGGCCATGTGCTTCAGAGGAGG GAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAG GGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGA GGGAAGCCATGACAGTCTTCTCATTGCACAATGGCCGTGTGCTTCAGAGG AGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAG GAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGA GGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAG AGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCA GAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTC AGAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGCTT CAGAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGCT TCATAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGC TTCATAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTG CTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGT GCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTG TGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGT GTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCG TGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCC GTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2520198	A A	ACCAATGG others(911): Show ACCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATT GCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCAT TGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCA TTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTC ATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCT CATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTC TCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTT CTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCT TCTCATTGCACAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTC TTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGT CTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAG TCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACA GTCTTCTCATTGACCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGAC AGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGA CAGTCTTCTCATTGACCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATG ACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCATAGGAGGGAAGCCAT GACAGTCTTCTCATTGACCAATGGCCGTGTGCTTCATAGGAGGGAAGCCA TGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCC ATGACAGTCTTCTCATTGC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0027 a0001c0021t0027	a0001c0021t0027g0087 a0001c0021t0027g0087	1	30	0.0333	918	c.139 others(937): Show c.1390+7469_1390+7470insCCAATGGCCGTGTGCTTCAGAGGAGG GAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAG GGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGA GGGAAGCCATGACAGTCTTCTCATTGCACAATGGCCGTGTGCTTCAGAGG AGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAG GAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGA GGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAG AGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGCTTCA GAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTC AGAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGCTT CAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCT TCATAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGC TTCATAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTG CTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGT GCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTG TGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGT GTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCG TGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCC GTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2520198	A A	ACCAATGG others(911): Show ACCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATT GCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCAT TGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCA TTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTC ATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCT CATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTC TCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTT CTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCT TCTCATTGCACAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTC TTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGT CTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAG TCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACA GTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGAC AGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGA CAGTCTTCTCATTGACCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATG ACAGTCTTCTCATTGACCAATGGCCGTGTGCTTCATAGGAGGGAAGCCAT GACAGTCTTCTCATTGACCAATGGCCGTGTGCTTCATAGGAGGGAAGCCA TGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCC ATGACAGTCTTCTCATTGC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01891.hp2 HG02258.hp2 others(6): Show HG01106.hp1 HG01891.hp2 HG02258.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG03225.hp2 HG03486.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0036 a0002c0009	a0001c0001t0004 a0001c0001t0017 a0001c0002t0001 others(4): Show a0001c0001t0004 a0001c0001t0017 a0001c0002t0001 a0001c0004t0004 a0001c0004t0023 a0001c0036t0007 a0002c0009t0012	a0001c0001t0004g0006 a0001c0001t0017g0101 a0001c0002t0001g0018 others(6): Show a0001c0001t0004g0006 a0001c0001t0017g0101 a0001c0002t0001g0018 a0001c0002t0001g0094 a0001c0004t0004g0084 a0001c0004t0023g0033 a0001c0036t0007g0100 a0002c0009t0012g0066 a0002c0009t0012g0067	9	38	0.2368	918	c.139 others(937): Show c.1390+7469_1390+7470insCCAATGGCCGTGTGCTTCAGAGGAGG GAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAG GGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGA GGGAAGCCATGACAGTCTTCTCATTGCACAATGGCCGTGTGCTTCAGAGG AGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAG GAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGA GGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAG AGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCA GAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTC AGAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGCTT CAGAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGCT TCATAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGC TTCATAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTG CTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGT GCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTG TGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGT GTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCG TGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCC GTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2520198	A A	ACCAATGG others(911): Show ACCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATT GCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCAT TGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCA TTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTC ATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCT CATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTC TCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTT CTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCT TCTCATTGCACAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTC TTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGT CTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAG TCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACA GTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGAC AGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGA CAGTCTTCTCATTGACCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATG ACAGTCTTCTCATTGACCAATGGCCGTGTGCTTCATAGGAGGGAAGCCAT GACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCATAGGAGGGAAGCCA TGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCC ATGACAGTCTTCTCATTGC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02273.hp2 HG01358.hp2 HG02273.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0038 a0001c0002t0001 a0001c0008t0038	a0001c0002t0001g0044 a0001c0008t0038g0045 a0001c0002t0001g0044 a0001c0008t0038g0045	2	31	0.0645	918	c.139 others(937): Show c.1390+7469_1390+7470insCCAATGGCCGTGTGCTTCAGAGGAGG GAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAG GGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGA GGGAAGCCATGACAGTCTTCTCATTGCACAATGGCCGTGTGCTTCAGAGG AGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAG GAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGA GGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAG AGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCA GAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTC AGAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGCTT CAGAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGCT TCATAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGC TTCATAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTG CTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGT GCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTG TGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGT GTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCG TGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCC GTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2520249	C C	ACCAATGG others(911): Show ACCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATT GCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCAT TGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCA TTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTC ATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCT CATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTC TCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTT CTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCT TCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTC TTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGT CTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAG TCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACA GTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGAC AGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGA CAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCATAGGAGGGAAGCCATG ACAGTCTTCTCATTGACCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCAT GACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCA TGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCC ATGACAGTCTTCTCATTGC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0011 a0003c0023t0011	a0003c0023t0011g0048 a0003c0023t0011g0048	1	101	0.0099	918	c.139 others(937): Show c.1390+7264_1390+7265insACCAATGGCCGTGTGCTTCAGAGGAG GGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGA GGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGG AGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAG GAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGA GGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAG AGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCA GAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTC AGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTT CAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCT TCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGC TTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTG CTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGT GCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTG TGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGT GTGCTTCATAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCG TGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCC GTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGC CGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46			chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2520259	G G	GTGTGCTT others(911): Show GTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGC CGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGG CCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATG GCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAAT GGCCATGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAA TGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCA ATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCC AATGGCCATGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCC CAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGC CCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTG ACCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATT GCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCAT TGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCA TTGACCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTC ATTGACCAATGGCCGTGTGCTTCATAGGAGGGAAGCCATGACAGTCTTCT CATTGACCAATGGCCGTGTGCTTCATAGGAGGGAAGCCATGACAGTCTTC TCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTT CTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCT TCTCATTGCCCAATGGCCA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG03017.hp1 HG01993.hp2 HG03017.hp1	a0001 a0001	a0001c0004 a0001c0014 a0001c0004 a0001c0014	a0001c0004t0010 a0001c0014t0032 a0001c0004t0010 a0001c0014t0032	a0001c0004t0010g0025 a0001c0014t0032g0023 a0001c0004t0010g0025 a0001c0014t0032g0023	2	102	0.0196	918	c.139 others(937): Show c.1390+7366_1390+7367insACCAATGGCCGTGTGCTTCAGAGGAG GGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGA GGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCATGTGCTTCAGAGG AGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAG GAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGA GGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCATGTGCTTCAG AGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCA GAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTC AGAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGCTT CAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCT TCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGC TTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTG CTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGT GCTTCATAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTG TGCTTCATAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGT GTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCG TGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCC ATGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGC CGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2520300	C C	CCCAATGG others(911): Show CCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATT GCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCAT TGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCA TTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTC ATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCT CATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTC TCATTGCACAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTT CTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCT TCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTC TTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGT CTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAG TCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACA GTCTTCTCATTGACCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGAC AGTCTTCTCATTGACCAATGGCCGTGTGCTTCATAGGAGGGAAGCCATGA CAGTCTTCTCATTGACCAATGGCCGTGTGCTTCATAGGAGGGAAGCCATG ACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCAT GACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCA TGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCC ATGACAGTCTTCTCATTGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0019 a0001c0029t0019	a0001c0029t0019g0065 a0001c0029t0019g0065	1	101	0.0099	918	c.139 others(937): Show c.1390+7469_1390+7470insCCAATGGCCGTGTGCTTCAGAGGAGG GAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAG GGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGA GGGAAGCCATGACAGTCTTCTCATTGCACAATGGCCGTGTGCTTCAGAGG AGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAG GAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGA GGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAG AGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCA GAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTC AGAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGCTT CAGAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGCT TCATAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGC TTCATAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTG CTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGT GCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTG TGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGT GTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCG TGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCC GTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2520360	C C	CGTGTGCT others(911): Show CGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGG CCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATG GCCATGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAAT GGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAA TGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCACA ATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCC AATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCC CAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGC CCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTG CCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATT GCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCAT TGACCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCA TTGACCAATGGCCGTGTGCTTCATAGGAGGGAAGCCATGACAGTCTTCTC ATTGACCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCT CATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTC TCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTT CTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCT TCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTC TTCTCATTGCCCAATGGCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03209.hp2 HG02572.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0024 a0001c0003t0018 a0001c0001t0024 a0001c0003t0018	a0001c0001t0024g0079 a0001c0003t0018g0073 a0001c0001t0024g0079 a0001c0003t0018g0073	2	104	0.0192	918	c.139 others(937): Show c.1390+7469_1390+7470insCCAATGGCCATGTGCTTCAGAGGAGG GAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAG GGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGA GGGAAGCCATGACAGTCTTCTCATTGCACAATGGCCGTGTGCTTCAGAGG AGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAG GAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGA GGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAG AGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCA GAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTC AGAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGCTT CAGAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGCT TCATAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGC TTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTG CTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGT GCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTG TGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGT GTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCTG TGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCC GTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1H_chr16_1148106_1226768	1186005	A A	ACGGCGTG others(911): Show ACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAG ACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGG CGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGG CATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGG TCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAG ACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGA GTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGG GTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGG GCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTA CGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGT GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTATG GGGCGGGTGAGTAGACGGT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	328	0.0030	918	c.300 others(935): Show c.300-8843_300-8842insACGTGGGGGGCGGGTGAGTAGACGGCAT GTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCG GCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACG GTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTA GACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTG AGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCG GGTGAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGT GGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGTGGT GTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGG CGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTATGGGG CGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC88C_chr14_91266323_91422820	91293470	A A	ACCTGCCA others(911): Show ACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACTTTCCC ATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCAC CTTCCCATCCTCACCCGCCAGAGCTCACCTTCCCATCCTCACGTGCCACA GCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCC GCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCC TCACCCACCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTC CCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACGTGCCACAGCTC ACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCA CAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCAC CCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCAT CCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCT TCCCATCCTCACCTGCCACAGCCCACCTTCCTGTCCCCTCACCTGCCACG GCCTACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTTCCTGCCCCCTC ACCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTC CTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACA GCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCCTC GCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTC CTGCCCCCTCGCCTGCCACAGCTCACCTTCCCATCCTCACCTGCCACGGC CCACCTTCCTGCCCCCTCG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp1 HG03209.hp1 others(1): Show HG02109.hp1 HG02451.hp1 HG03209.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0065 a0001c0001 a0001c0065	a0001c0001t0001 a0001c0001t0009 a0001c0065t0001 a0001c0001t0001 a0001c0001t0009 a0001c0065t0001	a0001c0001t0001g0243 a0001c0001t0009g0269 a0001c0001t0009g0270 others(1): Show a0001c0001t0001g0243 a0001c0001t0009g0269 a0001c0001t0009g0270 a0001c0065t0001g0265	4	279	0.0143	918	c.411 others(935): Show c.4112+702_4112+703insCGAGGGGGCAGGAAGGTGGGCCGTGGCA GGTGAGGATGGGAAGGTGAGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGG CCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCA GGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGG CGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGG CCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGTGAGGGGGCA GGAAGGTGGGCCGTGGCAGGTGAGGGGACAGGAAGGTAGGCCGTGGCAGG TGAGGGGACAGGAAGGTGGGCTGTGGCAGGTGAGGATGGGAAGGTGAGCT GTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGG TGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATG GGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTG AGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGG CACGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAG CTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGTGGGTGAGGATGGGAA GGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGA TGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACG TGAGGATGGGAAGGTGAGCTCTGGCGGGTGAGGATGGGAAGGTGAGCTGT GGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAAGTG AGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293493	T T	TCCTCACC others(911): Show TCCTCACCCGCCACAGCTCACTTTCCCATCCTCACGTGCCACAGCTCACC TTCCCATCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAG CTCACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCA CCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCT CACCCGCCACAGCTCACCTTCCCATCCTCACCCACCACAGCTCACCTTCC CATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCA CCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAC AGCTCACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACC CACCACAGCTCACCTTCCCATCCTCACCTGCCACAGCTCACCTTCCCATC CTCACCTGCCACAGCTCACCTTCCTATCCTCACCCGCCACAGCTCACCTT CCCATCCTCACCTGCCACAGCCCACCTTCCTGTCCCCTCACCTGCCACGG CCCACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTTCCCATCCTCACC TGCCACGGCCCACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTTCCTG CCCCCTCGCCTGCCACGGCCCACCTTCCTGTCCCCTCGCCTGCCACGGCC CACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTTCCCATCCTCACCTG CCACGGCCCACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTTCCTGTC CCCTCACCTGCCACGGCCCACCTTCCCATCCTCACCTGCCACGGCCCACC TTCCTGTCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCC ACGGCCCACCTTCCTGCCC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0020 a0020	a0020c0048 a0020c0048	a0020c0048t0016 a0020c0048t0016	a0020c0048t0016g0246 a0020c0048t0016g0246	1	205	0.0049	918	c.411 others(935): Show c.4112+679_4112+680insGGGCAGGAAGGTGGGCCGTGGCAGGCGA GGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGGTGGGCCG TGGCAGGTGAGGATGGGAAGGTGGGCCGTGGCAGGTGAGGGGACAGGAAG GTGGGCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCCGTGGCAGGTGAGG ATGGGAAGGTGGGCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCCGTGGC AGGCGAGGGGACAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGT GGGCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCCGTGGCAGGTGAGGAT GGGAAGGTGGGCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCCGTGGCAG GTGAGGGGACAGGAAGGTGGGCTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCGGGTGAGGATAGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAG GTGAGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGTGGGTGAGGAT GGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTGTGGCGGGT GAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTG GCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGA GCTGTGGTGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGA AGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGTGGGTGAGG ATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTCTGGCGG GTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTG TGGCACGTGAGGATGGGAAAGTGAGCTGTGGCGGGTGAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CDCA2_chr8_25454233_25512911	25465572	A A	ATCAAACT others(911): Show ATCAAACTTTGTATTTTTTTTTTTTGACTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTATTATACTCTAAGTTTCAGGGTACATGTGCACATTGTGCA GGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTA ATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTC CCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCC ATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTT TGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTC ATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATA GTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTG TTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCA ATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTCCTT TGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTT CTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGT TTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCT CCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTG TGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGT GATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTT TGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTG TTTTTTTCTTGTAAATTTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02717.hp1 HG02809.hp2 others(3): Show HG02486.hp1 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG02976.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0154 a0001c0001t0001g0210 others(2): Show a0001c0001t0001g0026 a0001c0001t0001g0154 a0001c0001t0001g0210 a0001c0001t0001g0252 a0001c0001t0001g0253	6	320	0.0188	918	c.388 others(933): Show c.388-587_388-586insTTTTTTTTGACTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTATTATACTCTAAGTTTCAGGGTACATGTGCACATTGT GCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCA CTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCC CTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTG TCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGT GTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAAT TTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGC ATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCA TTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCC GCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTC CTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTA GTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACT AGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCC TCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTG GTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCC AGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTC TTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGT TTGTTTTTTTCTTGTAAATTTGTCAAACTTTGTATTTT	CDCA2	ENSG00000184661.14	transcript	ENST00000330560.8	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL18A1_chr21_45400165_45518720	45501058	G G	GGGGGTGT others(911): Show GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTGTGGTGGGGGTGTGGTGGT GGGTGTGTGTTGGGGTGTGGTGTGGTGGGGGTGTGGTGTGGTGTGTGTTG GGTGTGGGTTGTGGGGTGTGGTTGGTGGTGGGTGTGGTGGGTGTGTTGGG TGTGTGGGGGGTGTGGTTGGTGTGTGGTTGGGTGTGTAGTGTGGGGGTGT GGTTGGTGTGTGTTGGGTGTGTAGGGTGGGGGTGTGGTTGGTGTGTGGGT GTGTGGTGTGGGGGGGGGTGTTGGGTGTGTGTGTGTGGGTGTGTAGTGTG GGGGGTGGTTGGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGGGGTGTGTGGGGGTGTGG GGGGGTGGTTGGTGTGTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT GTTGGGGTGTAGTGTGGGGGTGTGGTTTGGGGTGGGTGTGTTGGGTGTGG TGTGGGGGGTGTGGTTTGGTGTGTGTTGGGGTGTGTAGTGTGGGGGGTGT GGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGTGTG TGGTGGGTGGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTGG GTGTGGTGGGTGTGTTGTGTGGGGGTGTGGTTGGGTGTGTGTTGGGTGTG TAGTGTGGGGGGGTGTGGTTTGGTGTGTTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT GTGTTGGGGTGTGTAGTGT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0249 a0001c0003t0001g0249	1	290	0.0034	918	c.268 others(937): Show c.2684-2924_2684-2923insTGTGGTGGGGGTGTGGTGGTGGGTGT GTGTTGGGGTGTGGTGTGGTGGGGGTGTGGTGTGGTGTGTGTTGGGTGTG GGTTGTGGGGTGTGGTTGGTGGTGGGTGTGGTGGGTGTGTTGGGTGTGTG GGGGGTGTGGTTGGTGTGTGGTTGGGTGTGTAGTGTGGGGGTGTGGTTGG TGTGTGTTGGGTGTGTAGGGTGGGGGTGTGGTTGGTGTGTGGGTGTGTGG TGTGGGGGGGGGTGTTGGGTGTGTGTGTGTGGGTGTGTAGTGTGGGGGGT GGTTGGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT GGGGGTGTGGTTTGGTGTGTGTTGGGGGGTGTGTGGGGGTGTGGGGGGGT GGTTGGTGTGTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG GTGTAGTGTGGGGGTGTGGTTTGGGGTGGGTGTGTTGGGTGTGGTGTGGG GGGTGTGGTTTGGTGTGTGTTGGGGTGTGTAGTGTGGGGGGTGTGGTTTT GTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGTGTGTGGTGG GTGGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG GTGTGGTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTGGGTGTGG TGGGTGTGTTGTGTGGGGGTGTGGTTGGGTGTGTGTTGGGTGTGTAGTGT GGGGGGGTGTGGTTTGGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTGT GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTG GGGTGTGTAGTGTGGGGTGTGGTTTGGTGTGTGTTGGGTGTG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
DNAH10_chr12_123757301_123940714	123911540	A A	ACTGTCCT others(911): Show ACTGTCCTGGGGGGTCTGTCCCGGGGGGACTGTCCTGGGGGGTCTGTCCC AGGGGATCTGTCCTGGGGGGGGTCTGTCCCGGGGGGTCTGTCCTGGGGGG ACTGTCCTGGGGGGATCTGTCCTGGGGGGGTCTGTCCTGGGGGCATCCGT CCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGATCTGTCCTGG GGGGTTTGTCCTGGGGGAGTCTGTCCTGGGGGTGGTCTGTCCTGGAGGGG TCTGTCCTAGGGGAGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCT GTCCCGGGGGGGTCTGTCCCGGGGGGGTCTGTCCCGGGGGGACTGTCCTG GGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGGGTGGTCTGTCCTGGGGG GGGTCTGTCCCGGGGGGGTCTGTCCCAGGGGATCTGTCCTTGGGGGGACT GTCCTGGGGGGGTCTGTCCTGGGGGCATCTGTCCTGGGGGGGGTCTGTCC TGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGATCTGTCCTGGGG AGGTCTGTCCTGGGGGGTCTGTCCTGGAGGTGTCTGTCCTTGGGGGGGGT CTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTAGGGGGGTCTGTC CTGGGGGGTTTGTCCTGGGGGGGTTTGTCCTGGGGGGGTCTGTCCTGGGG GGGGGTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGT TTGTCCTGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGGGGGGTCTGT CCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGAGGTCTGTCC TGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGGG GGGTCTGTCCTGGGGGCGT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0036 a0036	a0036c0055 a0036c0055	a0036c0055t0002 a0036c0055t0002	a0036c0055t0002g0069 a0036c0055t0002g0069	1	127	0.0079	918	c.101 others(937): Show c.10134+878_10134+879insGGGTCTGTCCCGGGGGGACTGTCCTG GGGGGTCTGTCCCAGGGGATCTGTCCTGGGGGGGGTCTGTCCCGGGGGGT CTGTCCTGGGGGGACTGTCCTGGGGGGATCTGTCCTGGGGGGGTCTGTCC TGGGGGCATCCGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGG GGATCTGTCCTGGGGGGTTTGTCCTGGGGGAGTCTGTCCTGGGGGTGGTC TGTCCTGGAGGGGTCTGTCCTAGGGGAGTCTGTCCTGGGGGGGGTCTGTC CTGGGGGGGGTCTGTCCCGGGGGGGTCTGTCCCGGGGGGGTCTGTCCCGG GGGGACTGTCCTGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGGGTGG TCTGTCCTGGGGGGGGTCTGTCCCGGGGGGGTCTGTCCCAGGGGATCTGT CCTTGGGGGGACTGTCCTGGGGGGGTCTGTCCTGGGGGCATCTGTCCTGG GGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGG ATCTGTCCTGGGGAGGTCTGTCCTGGGGGGTCTGTCCTGGAGGTGTCTGT CCTTGGGGGGGGTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCT AGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGGTTTGTCCTGGGGGG GTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTC TGTCCTGGGGGGTTTGTCCTGGGGGGGTCTGTCCTGGGGGCGTCTGTCCT GGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGG GGGAGGTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGG TTTGTCCTGGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	131998636	T T	TCTTTGTA others(911): Show TCTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTT GTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAG TCTTGTATACAAAGACTTTGTATACAAGACTGTATACAAAGTCTTTGTAT ACAGTCTTGTATACAAAGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0110 a0001c0002t0001g0110	1	74	0.0135	918	c.282 others(937): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTT GTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAG TCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTAT ACAGTCTTGTATACAAAGACTTTGTATACAAGACTGTATACAAAGTCTTT GTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGA CTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACA AAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTA TACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCT TGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACA GTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	131998636	T T	TCTTTGTA others(911): Show TCTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTT GTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAG TCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTAT ACAGTCTTGTATACAAAGA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01106.hp2 HG01071.hp1 HG01106.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0145 a0003c0005t0001g0191 a0003c0005t0001g0145 a0003c0005t0001g0191	2	75	0.0267	918	c.282 others(937): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTT GTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAG TCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTAT ACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTT GTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGA CTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACA AAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTA TACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCT TGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACA GTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	131998879	A A	ACTTTGTA others(911): Show ACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTT GTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAG TCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTAT ACAGTCTTGTATACAAAGT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0034 a0001c0002t0001g0034	1	141	0.0071	918	c.282 others(937): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTT GTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAG TCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTAT ACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTT GTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGA CTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACA AAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTA TACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCT TGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACA GTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
GALR1_chr18_77244848_77282900	77252992	C C	CCACCACC others(911): Show CCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACC ACCATCACCACCATCACCACCACCACCACCACCACCACCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCA TCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCACCACCACCACCACCACCACCAC CATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCAC CACCACCATCACCACCACCACCACCACCACCACCACCACCACCATCACCA CCATCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCAC CACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCATCA CCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCACCATCACCACCATCACCACCACCACCACCACCATCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCA CCATCACCACCACCACCATCACCACCATCACCACCACCACCATCACCACC ACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCAC CATCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCA CCACCATCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	286	0.0035	918	c.666 others(935): Show c.666+1792_666+1793insTCACCACCACCACCACCACCACCATCAC CACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCACCA CCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCACCATCACCACCATCACCACCACCACCACCAC CACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCA CCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACC ATCACCACCATCACCACCACCACCACCACCACCACCACCATCACCACCAC CACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCA CCACCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACC ACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCAC CACCACCACCACCATCACCACCATCACCACCACCACCACCACCATCACCA CCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACC ACCACCACCATCACCACCACCACCATCACCACCATCACCACCACCACCAT CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCACCACCATCACCACCACCACCATCACCACCATCACCACCACCACCACC ACCACCACCACCATCACCACCACCATCACCACCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GOLM1_chr9_86021146_86104558	86053539	C C	CCACACCA others(911): Show CCACACCATTCCACACCATGCCACACACCACACACACACTCCACACCAAA CCACACACAACCACACCACACACACATCACACACCACACACCACTCCACA CACACACACACCACACACACATCACACACACCATTCCACCACACAACACA CCACACATCACTCCACAAAACACCACACACACCATGCCACACCACTCCAC ACACAGCACACCACTCCACACACACCACACACCACTCCACACGCCACAGC ACACCACACATCACACCACACACTACCACACCACACACCACTCCACACCA CATACCACTCCACACCAAAACATACCACACCACGCCACACCACTCCACAC AACGTGCCACACACCAGCCCACACCAAACCACACACCACACACCACACAT CACTCCACACCCCAAACACACCACACACCACTCCACACACACCACACACC ACTCCACACCAAACCACACCACTCCACACCAAACCACACCATGACACACC AAACCACACCACACACATCACACCACACCACACCATGCCATATGACTCCA CACACCAGACCACACCACATACCACTCCACACCACACCCCACTCCACACA CCATGCCACACACACTACACCACACACACCACACACACCAAACCACACCA CACCACACCACTCCACACACTTCACACCAAACCACACACCCCACCACACA CACTCCACACCAAACCACATCACACCACACCACTCCACACCATACACATC ACATACCACACCACACACTGCTCCACACAACACATCGCACCACTCCACAC CAAACCACACACCATGCCACACCACTCCATATGACACACACCACGGCACA CACCACATACCACACTCCACACCAAACCACACCACACCATATACCACACC ACACCACACACCACCACTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp1 HG02922.hp2 HG02109.hp1 HG02486.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0190 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0190	3	12	0.2500	918	c.310 others(933): Show c.310-949_310-948insAAGTGGTGGTGTGTGGTGTGGTGTGGTATA TGGTGTGGTGTGGTTTGGTGTGGAGTGTGGTATGTGGTGTGTGCCGTGGT GTGTGTCATATGGAGTGGTGTGGCATGGTGTGTGGTTTGGTGTGGAGTGG TGCGATGTGTTGTGTGGAGCAGTGTGTGGTGTGGTATGTGATGTGTATGG TGTGGAGTGGTGTGGTGTGATGTGGTTTGGTGTGGAGTGTGTGTGGTGGG GTGTGTGGTTTGGTGTGAAGTGTGTGGAGTGGTGTGGTGTGGTGTGGTTT GGTGTGTGTGGTGTGTGTGGTGTAGTGTGTGTGGCATGGTGTGTGGAGTG GGGTGTGGTGTGGAGTGGTATGTGGTGTGGTCTGGTGTGTGGAGTCATAT GGCATGGTGTGGTGTGGTGTGATGTGTGTGGTGTGGTTTGGTGTGTCATG GTGTGGTTTGGTGTGGAGTGGTGTGGTTTGGTGTGGAGTGGTGTGTGGTG TGTGTGGAGTGGTGTGTGGTGTGTTTGGGGTGTGGAGTGATGTGTGGTGT GTGGTGTGTGGTTTGGTGTGGGCTGGTGTGTGGCACGTTGTGTGGAGTGG TGTGGCGTGGTGTGGTATGTTTTGGTGTGGAGTGGTATGTGGTGTGGAGT GGTGTGTGGTGTGGTAGTGTGTGGTGTGATGTGTGGTGTGCTGTGGCGTG TGGAGTGGTGTGTGGTGTGTGTGGAGTGGTGTGCTGTGTGTGGAGTGGTG TGGCATGGTGTGTGTGGTGTTTTGTGGAGTGATGTGTGGTGTGTTGTGTG GTGGAATGGTGTGTGTGATGTGTGTGTGGTGTGTGTGTGTGTGGAGTGGT GTGTGGTGTGTGATGTGTGTGTGGTGTGGTTGTGTGTGGTTTGGTGTGGA GTGTGTGTGTGGTGTGTGGCATGGTGTGGAATGGTGTG	GOLM1	ENSG00000135052.16	transcript	ENST00000388712.7	protein_coding	3/9			chr9	TogoVar
GOLM1_chr9_86021146_86104558	86053539	C C	CCACACCA others(911): Show CCACACCATTCCACACCATGCCACACACCACACACACACTCCACACCAAA CCACACACAACCACTCCACACACACATCACACACCACACACCACTCCACA CACACACACACCACACACACATCACACACACCATTCCACCACACAACACA CCACACATCACTCCACAAAACACCACACACACCATGCCACACCACTCCAC ACACAGCACACCACTCCACACACACCACACACCACTCCACACGCCACAGC ACACCACACATCACACCACACACTACCACACCACACACCACTCCACACCA CATACCACTCCACACCAAAACATACCACACCACGCCACACCACTCCACAC AACGTGCCACACACCAGCCCACACCAAACCACACACCACACACCACACAT CACTCCACACCCCAAACACACCACACACCACTCCACACACACCACACACC ACTCCACACCAAACCACACCACTCCACACCAAACCACACCATGACACACC AAACCACACCACACACATCACACCACACCACACCATGCCATATGACTCCA CACACCAGACCACACCACATACCACTCCACACCACACCCCACTCCACACA CCATGCCACACACACTACACCACACACACCACAACACCAAACCACAACCA CACCACACCACTCCACACACTTCACACCAAACCACACACCCCACCACACA CACTCCACACCAAACCACATCACACCACACCACTCCACACCATACACATC ACATACCACACCACACACTGCTCCACACAACACATCGCACCACTCCACAC CAAACCACACACCATGCCACACCACTCCATATGACACACACCACGGCACA CACCACATACCACACTCCACACCAAACCACACCACACCATATACCACACC ACACCACACACCACCACTT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0097 a0001c0003t0002g0097	1	10	0.1000	918	c.310 others(933): Show c.310-949_310-948insAAGTGGTGGTGTGTGGTGTGGTGTGGTATA TGGTGTGGTGTGGTTTGGTGTGGAGTGTGGTATGTGGTGTGTGCCGTGGT GTGTGTCATATGGAGTGGTGTGGCATGGTGTGTGGTTTGGTGTGGAGTGG TGCGATGTGTTGTGTGGAGCAGTGTGTGGTGTGGTATGTGATGTGTATGG TGTGGAGTGGTGTGGTGTGATGTGGTTTGGTGTGGAGTGTGTGTGGTGGG GTGTGTGGTTTGGTGTGAAGTGTGTGGAGTGGTGTGGTGTGGTTGTGGTT TGGTGTTGTGGTGTGTGTGGTGTAGTGTGTGTGGCATGGTGTGTGGAGTG GGGTGTGGTGTGGAGTGGTATGTGGTGTGGTCTGGTGTGTGGAGTCATAT GGCATGGTGTGGTGTGGTGTGATGTGTGTGGTGTGGTTTGGTGTGTCATG GTGTGGTTTGGTGTGGAGTGGTGTGGTTTGGTGTGGAGTGGTGTGTGGTG TGTGTGGAGTGGTGTGTGGTGTGTTTGGGGTGTGGAGTGATGTGTGGTGT GTGGTGTGTGGTTTGGTGTGGGCTGGTGTGTGGCACGTTGTGTGGAGTGG TGTGGCGTGGTGTGGTATGTTTTGGTGTGGAGTGGTATGTGGTGTGGAGT GGTGTGTGGTGTGGTAGTGTGTGGTGTGATGTGTGGTGTGCTGTGGCGTG TGGAGTGGTGTGTGGTGTGTGTGGAGTGGTGTGCTGTGTGTGGAGTGGTG TGGCATGGTGTGTGTGGTGTTTTGTGGAGTGATGTGTGGTGTGTTGTGTG GTGGAATGGTGTGTGTGATGTGTGTGTGGTGTGTGTGTGTGTGGAGTGGT GTGTGGTGTGTGATGTGTGTGTGGAGTGGTTGTGTGTGGTTTGGTGTGGA GTGTGTGTGTGGTGTGTGGCATGGTGTGGAATGGTGTG	GOLM1	ENSG00000135052.16	transcript	ENST00000388712.7	protein_coding	3/9			chr9	TogoVar
GOLM1_chr9_86021146_86104558	86053539	C C	CCACACCA others(911): Show CCACACCATTCCACACCATGCCACACACCACACACACACTCCACACCAAA CCACACACAACCACTCCACACACACATCACACACCACACACCACTCCACA CACACACACACCACACACACATCACACACACCATTCCACCACACAACACA CCACACATCACTCCACAAAACACCACACACACCATGCCACACCACTCCAC ACACAGCACACCACTCCACACACACCACACACCACTCCACACGCCACAGC ACACCACACATCACACCACACACTACCACACCACACACCACTCCACACCA CATACCACTCCACACCAAAACATACCACACCACGCCACACCACTCCACAC AACGTGCCACACACCAGCCCACACCAAACCACACACCACACACCACACAT CACTCCACACCCCAAACACACCACACACCACTCCACACACACCACACACC ACTCCACACCAAACCACACCACTCCACACCAAACCACACCATGACACACC AAACCACACCACACACATCACACCACACCACACCATGCCATATGACTCCA CACACCAGACCACACCACATACCACTCCACACCACACCCCACTCCACACA CCATGCCACACACACTACACCACACACACCACACACACCAAACCACACCA CACCACACCACTCCACACACTTCACACCAAACCACACACCCCACCACACA CACTCCACACCAAACCACATCACACCACACCACTCCACACCATACACATC ACATACCACACCACACACTGCTCCACACAACACATCGCACCACTCCACAC CAAACCACACACCATGCCACACCACTCCATATGACACACACCACGGCACA CACCACATACCACACTCCACACCAAACCACACCACACCATATACCACACC ACACCACACACCACCACTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(120): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01123.hp1 HG01255.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01975.hp1 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03139.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03492.hp1 HG03516.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18967.hp1 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18984.hp1 NA18986.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19011.hp1 NA19043.hp2 NA19054.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19072.hp1 NA19074.hp2 NA19077.hp2 NA19083.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0002c0007 a0003c0005 a0004c0009 a0005c0012 a0007c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 a0001c0003t0002 a0001c0003t0019 a0001c0004t0002 a0002c0007t0005 a0003c0005t0004 a0004c0009t0002 a0005c0012t0001 a0007c0013t0001	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 others(120): Show a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0214 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0253 a0001c0001t0001g0277 a0001c0001t0001g0283 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0308 a0001c0001t0002g0123 a0001c0001t0021g0145 a0001c0003t0002g0023 a0001c0003t0002g0024 a0001c0003t0002g0026 a0001c0003t0002g0027 a0001c0003t0002g0028 a0001c0003t0002g0029 a0001c0003t0002g0030 a0001c0003t0002g0031 a0001c0003t0002g0032 a0001c0003t0002g0033 a0001c0003t0002g0039 a0001c0003t0002g0043 a0001c0003t0002g0046 a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0051 a0001c0003t0002g0058 a0001c0003t0002g0061 a0001c0003t0002g0070 a0001c0003t0002g0071 a0001c0003t0002g0072 a0001c0003t0002g0074 a0001c0003t0002g0075 a0001c0003t0002g0077 a0001c0003t0002g0079 a0001c0003t0002g0080 a0001c0003t0002g0081 a0001c0003t0002g0083 a0001c0003t0002g0086 a0001c0003t0002g0087 a0001c0003t0002g0090 a0001c0003t0002g0091 a0001c0003t0002g0092 a0001c0003t0002g0094 a0001c0003t0002g0105 a0001c0003t0002g0110 a0001c0003t0002g0144 a0001c0003t0019g0022 a0001c0004t0002g0002 a0001c0004t0002g0020 a0001c0004t0002g0021 a0001c0004t0002g0034 a0001c0004t0002g0037 a0001c0004t0002g0038 a0001c0004t0002g0044 a0001c0004t0002g0048 a0001c0004t0002g0063 a0001c0004t0002g0064 a0001c0004t0002g0067 a0001c0004t0002g0068 a0001c0004t0002g0076 a0001c0004t0002g0078 a0001c0004t0002g0111 a0001c0004t0002g0139 a0001c0004t0002g0142 a0001c0004t0002g0143 a0002c0007t0005g0045 a0002c0007t0005g0053 a0002c0007t0005g0088 a0002c0007t0005g0103 a0003c0005t0004g0135 a0003c0005t0004g0136 a0004c0009t0002g0052 a0004c0009t0002g0084 a0005c0012t0001g0163 a0007c0013t0001g0238	123	132	0.9318	918	c.310 others(933): Show c.310-949_310-948insAAGTGGTGGTGTGTGGTGTGGTGTGGTATA TGGTGTGGTGTGGTTTGGTGTGGAGTGTGGTATGTGGTGTGTGCCGTGGT GTGTGTCATATGGAGTGGTGTGGCATGGTGTGTGGTTTGGTGTGGAGTGG TGCGATGTGTTGTGTGGAGCAGTGTGTGGTGTGGTATGTGATGTGTATGG TGTGGAGTGGTGTGGTGTGATGTGGTTTGGTGTGGAGTGTGTGTGGTGGG GTGTGTGGTTTGGTGTGAAGTGTGTGGAGTGGTGTGGTGTGGTGTGGTTT GGTGTGTGTGGTGTGTGTGGTGTAGTGTGTGTGGCATGGTGTGTGGAGTG GGGTGTGGTGTGGAGTGGTATGTGGTGTGGTCTGGTGTGTGGAGTCATAT GGCATGGTGTGGTGTGGTGTGATGTGTGTGGTGTGGTTTGGTGTGTCATG GTGTGGTTTGGTGTGGAGTGGTGTGGTTTGGTGTGGAGTGGTGTGTGGTG TGTGTGGAGTGGTGTGTGGTGTGTTTGGGGTGTGGAGTGATGTGTGGTGT GTGGTGTGTGGTTTGGTGTGGGCTGGTGTGTGGCACGTTGTGTGGAGTGG TGTGGCGTGGTGTGGTATGTTTTGGTGTGGAGTGGTATGTGGTGTGGAGT GGTGTGTGGTGTGGTAGTGTGTGGTGTGATGTGTGGTGTGCTGTGGCGTG TGGAGTGGTGTGTGGTGTGTGTGGAGTGGTGTGCTGTGTGTGGAGTGGTG TGGCATGGTGTGTGTGGTGTTTTGTGGAGTGATGTGTGGTGTGTTGTGTG GTGGAATGGTGTGTGTGATGTGTGTGTGGTGTGTGTGTGTGTGGAGTGGT GTGTGGTGTGTGATGTGTGTGTGGAGTGGTTGTGTGTGGTTTGGTGTGGA GTGTGTGTGTGGTGTGTGGCATGGTGTGGAATGGTGTG	GOLM1	ENSG00000135052.16	transcript	ENST00000388712.7	protein_coding	3/9			chr9	TogoVar
GOLM1_chr9_86021146_86104558	86053539	C C	CCACACCA others(911): Show CCACACCATTCCACACCATGCCACACACCACACACACACTCCACACCAAA CCACACACAACCACTCCACACACACATCACACACCACACACCACTCCACA CACACACACACCACACACACATCACACACACCATTCCACCACACAACACA CCACACATCACTCCACAAAACACCACACACACCATGCCACACCACTCCAC ACACAGCACACCACTCCACACACACCACACACCACTCCACACGCCACAGC ACACCACACATCACACCACACACTACCACACCACACACCACTCCACACCA CATACCACTCCACACCAAAACATACCACACCACGCCACACCACTCCACAC AACGTGCCACACACCAGCCCACACCAAACCACACACCACACACCACACAT CACTCCACACCCCAAACACACCACACACCACTCCACACACACCACACACC ACTCCACACCAAACCACACCATGACACACCAAACCACACCATGACACACC AAACCACACCACACACATCACACCACACCACACCATGCCATATGACTCCA CACACCAGACCACACCACATACCACTCCACACCACACCCCACTCCACACA CCATGCCACACACACTACACCACACACACCACACACACCAAACCACACCA CACCACACCACTCCACACACTTCACACCAAACCACACACCCCACCACACA CACTCCACACCAAACCACATCACACCACACCACTCCACACCATACACATC ACATACCACACCACACACTGCTCCACACAACACATCGCACCACTCCACAC CAAACCACACACCATGCCACACCACTCCATATGACACACACCACGGCACA CACCACATACCACACTCCACACCAAACCACACCACACCATATACCACACC ACACCACACACCACCACTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0036 a0001c0004t0002g0036	1	10	0.1000	918	c.310 others(933): Show c.310-949_310-948insAAGTGGTGGTGTGTGGTGTGGTGTGGTATA TGGTGTGGTGTGGTTTGGTGTGGAGTGTGGTATGTGGTGTGTGCCGTGGT GTGTGTCATATGGAGTGGTGTGGCATGGTGTGTGGTTTGGTGTGGAGTGG TGCGATGTGTTGTGTGGAGCAGTGTGTGGTGTGGTATGTGATGTGTATGG TGTGGAGTGGTGTGGTGTGATGTGGTTTGGTGTGGAGTGTGTGTGGTGGG GTGTGTGGTTTGGTGTGAAGTGTGTGGAGTGGTGTGGTGTGGTGTGGTTT GGTGTGTGTGGTGTGTGTGGTGTAGTGTGTGTGGCATGGTGTGTGGAGTG GGGTGTGGTGTGGAGTGGTATGTGGTGTGGTCTGGTGTGTGGAGTCATAT GGCATGGTGTGGTGTGGTGTGATGTGTGTGGTGTGGTTTGGTGTGTCATG GTGTGGTTTGGTGTGTCATGGTGTGGTTTGGTGTGGAGTGGTGTGTGGTG TGTGTGGAGTGGTGTGTGGTGTGTTTGGGGTGTGGAGTGATGTGTGGTGT GTGGTGTGTGGTTTGGTGTGGGCTGGTGTGTGGCACGTTGTGTGGAGTGG TGTGGCGTGGTGTGGTATGTTTTGGTGTGGAGTGGTATGTGGTGTGGAGT GGTGTGTGGTGTGGTAGTGTGTGGTGTGATGTGTGGTGTGCTGTGGCGTG TGGAGTGGTGTGTGGTGTGTGTGGAGTGGTGTGCTGTGTGTGGAGTGGTG TGGCATGGTGTGTGTGGTGTTTTGTGGAGTGATGTGTGGTGTGTTGTGTG GTGGAATGGTGTGTGTGATGTGTGTGTGGTGTGTGTGTGTGTGGAGTGGT GTGTGGTGTGTGATGTGTGTGTGGAGTGGTTGTGTGTGGTTTGGTGTGGA GTGTGTGTGTGGTGTGTGGCATGGTGTGGAATGGTGTG	GOLM1	ENSG00000135052.16	transcript	ENST00000388712.7	protein_coding	3/9			chr9	TogoVar
GOLM1_chr9_86021146_86104558	86053539	C C	CCACACCA others(911): Show CCACACCATTCCACACCATGCCACACACCACACACACACTCCACACCAAA CCACACACAACCACTCCACACACACATCACACACCACACACCACTCCACA CACACACACACCACACACACATCACACACACCATTCCACCACACAACACA CCACACATCACTCCACAAAACACCACACACACCATGCCACACCACTCCAC ACACAGCACACCACTCCACACACACCACACACCACTCCACACGCCACAGC ACACCACACATCACACCACACACTACCACACCACACACCACTCCACACCA CATACCACTCCACACCAAAACATACCACACCACGCCACACCACTCCACAC AACGTGCCACACACCAGCCCACATCAAACCACACACCACACACCACACAT CACTCCACACCCCAAACACACCACACACCACTCCACACACACCACACACC ACTCCACACCAAACCACACCACTCCACACCAAACCACACCATGACACACC AAACCACACCACACACATCACACCACACCACACCATGCCATATGACTCCA CACACCAGACCACACCACATACCACTCCACACCACACCCCACTCCACACA CCATGCCACACACACTACACCACACACACCACACACACCAAACCACACCA CACCACACCACTCCACACACTTCACACCAAACCACACACCCCACCACACA CACTCCACACCAAACCACATCACACCACACCACTCCACACCATACACATC ACATACCACACCACACACTGCTCCACACAACACATCGCACCACTCCACAC CAAACCACACACCATGCCACACCACTCCATATGACACACACCACGGCACA CACCACATACCACACTCCACACCAAACCACACCACACCATATACCACACC ACACCACACACCACCACTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0104 a0001c0003t0002g0104	1	10	0.1000	918	c.310 others(933): Show c.310-949_310-948insAAGTGGTGGTGTGTGGTGTGGTGTGGTATA TGGTGTGGTGTGGTTTGGTGTGGAGTGTGGTATGTGGTGTGTGCCGTGGT GTGTGTCATATGGAGTGGTGTGGCATGGTGTGTGGTTTGGTGTGGAGTGG TGCGATGTGTTGTGTGGAGCAGTGTGTGGTGTGGTATGTGATGTGTATGG TGTGGAGTGGTGTGGTGTGATGTGGTTTGGTGTGGAGTGTGTGTGGTGGG GTGTGTGGTTTGGTGTGAAGTGTGTGGAGTGGTGTGGTGTGGTGTGGTTT GGTGTGTGTGGTGTGTGTGGTGTAGTGTGTGTGGCATGGTGTGTGGAGTG GGGTGTGGTGTGGAGTGGTATGTGGTGTGGTCTGGTGTGTGGAGTCATAT GGCATGGTGTGGTGTGGTGTGATGTGTGTGGTGTGGTTTGGTGTGTCATG GTGTGGTTTGGTGTGGAGTGGTGTGGTTTGGTGTGGAGTGGTGTGTGGTG TGTGTGGAGTGGTGTGTGGTGTGTTTGGGGTGTGGAGTGATGTGTGGTGT GTGGTGTGTGGTTTGATGTGGGCTGGTGTGTGGCACGTTGTGTGGAGTGG TGTGGCGTGGTGTGGTATGTTTTGGTGTGGAGTGGTATGTGGTGTGGAGT GGTGTGTGGTGTGGTAGTGTGTGGTGTGATGTGTGGTGTGCTGTGGCGTG TGGAGTGGTGTGTGGTGTGTGTGGAGTGGTGTGCTGTGTGTGGAGTGGTG TGGCATGGTGTGTGTGGTGTTTTGTGGAGTGATGTGTGGTGTGTTGTGTG GTGGAATGGTGTGTGTGATGTGTGTGTGGTGTGTGTGTGTGTGGAGTGGT GTGTGGTGTGTGATGTGTGTGTGGAGTGGTTGTGTGTGGTTTGGTGTGGA GTGTGTGTGTGGTGTGTGGCATGGTGTGGAATGGTGTG	GOLM1	ENSG00000135052.16	transcript	ENST00000388712.7	protein_coding	3/9			chr9	TogoVar
GOLM1_chr9_86021146_86104558	86053539	C C	CCACACCA others(911): Show CCACACCATTCCACACCATGCCACACACCACACACACACTCCACACCAAA CCACACACAACCACTCCACACACACATCACACACCACACACCACTCCACA CACACACACACCACACACACATCACACACACCATTCCACCACACAACACA CCACACATCACTCCACAAAACACCACACACACCATGCCACACCACTCCAC ACACAGCACACCACTCCACACACACGACACACCACTCCACACGCCACAGC ACACCACACATCACACCACACACTACCACACCACACACCACTCCACACCA CATACCACTCCACACCAAAACATACCACACCACGCCACACCACTCCACAC AACGTGCCACACACCAGCCCACACCAAACCACACACCACACACCACACAT CACTCCACACCCCAAACACACCACACACCACTCCACACACACCACACACC ACTCCACACCAAACCACACCACTCCACACCAAACCACACCATGACACACC AAACCACACCACACACATCACACCACACCACACCATGCCATATGACTCCA CACACCAGACCACACCACATACCACTCCACACCACACCCCACTCCACACA CCATGCCACACACACTACACCACACACACCACACACACCAAACCACACCA CACCACACCACTCCACACACTTCACACCAAACCACACACCCCACCACACA CACTCCACACCAAACCACATCACACCACACCACTCCACACCATACACATC ACATACCACACCACACACTGCTCCACACAACACATCGCACCACTCCACAC CAAACCACACACCATGCCACACCACTCCATATGACACACACCACGGCACA CACCACATACCACACTCCACACCAAACCACACCACACCATATACCACACC ACACCACACACCACCACTT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0198 a0001c0001t0007g0198	1	10	0.1000	918	c.310 others(933): Show c.310-949_310-948insAAGTGGTGGTGTGTGGTGTGGTGTGGTATA TGGTGTGGTGTGGTTTGGTGTGGAGTGTGGTATGTGGTGTGTGCCGTGGT GTGTGTCATATGGAGTGGTGTGGCATGGTGTGTGGTTTGGTGTGGAGTGG TGCGATGTGTTGTGTGGAGCAGTGTGTGGTGTGGTATGTGATGTGTATGG TGTGGAGTGGTGTGGTGTGATGTGGTTTGGTGTGGAGTGTGTGTGGTGGG GTGTGTGGTTTGGTGTGAAGTGTGTGGAGTGGTGTGGTGTGGTGTGGTTT GGTGTGTGTGGTGTGTGTGGTGTAGTGTGTGTGGCATGGTGTGTGGAGTG GGGTGTGGTGTGGAGTGGTATGTGGTGTGGTCTGGTGTGTGGAGTCATAT GGCATGGTGTGGTGTGGTGTGATGTGTGTGGTGTGGTTTGGTGTGTCATG GTGTGGTTTGGTGTGGAGTGGTGTGGTTTGGTGTGGAGTGGTGTGTGGTG TGTGTGGAGTGGTGTGTGGTGTGTTTGGGGTGTGGAGTGATGTGTGGTGT GTGGTGTGTGGTTTGGTGTGGGCTGGTGTGTGGCACGTTGTGTGGAGTGG TGTGGCGTGGTGTGGTATGTTTTGGTGTGGAGTGGTATGTGGTGTGGAGT GGTGTGTGGTGTGGTAGTGTGTGGTGTGATGTGTGGTGTGCTGTGGCGTG TGGAGTGGTGTGTCGTGTGTGTGGAGTGGTGTGCTGTGTGTGGAGTGGTG TGGCATGGTGTGTGTGGTGTTTTGTGGAGTGATGTGTGGTGTGTTGTGTG GTGGAATGGTGTGTGTGATGTGTGTGTGGTGTGTGTGTGTGTGGAGTGGT GTGTGGTGTGTGATGTGTGTGTGGAGTGGTTGTGTGTGGTTTGGTGTGGA GTGTGTGTGTGGTGTGTGGCATGGTGTGGAATGGTGTG	GOLM1	ENSG00000135052.16	transcript	ENST00000388712.7	protein_coding	3/9			chr9	TogoVar
HS3ST6_chr16_1906475_1923415	1920388	A A	AGTCCCCA others(911): Show AGTCCCCACAGTCTCAGCTATCCCCACGGTCTCAGCCATCCCCGTGGTCT CAGCAGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCAAGAGCCCTCACG GTCTCAGCCATCCCCACGGTCTCAGGAGTCCCCGCGGTCTCAGCCGTCCC CACGGTCTCAGGAGTCCCCACGATCTCAGCTGTCCCCACGGTCTCAGGAG TCCCCACAGTCTCAGCTATCCCCATGGTCTCAGCCATCCCCGTGGTCTCA GCAGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCAGCAGTCCCCACGGT CTCAGGAGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCAGCAGTCCCCA CGGTCTCAGCCGTCCCCACGGTCTCAGGAGTCCCCACGGACTCAGCCGTC CCCAGGGTCTCAGCCATCCCCAGGGTCTCAGCCGTCCCCACGGTCCCAGC CGTCCCCACCGTCTCAGCAGTCCCCACGGTCTCAGCCGTCCCCACGGTCT CAGGAGTCCCCACGGTCTCAGCAGTCCCCACAGTCTCAGCCGTCCCCACC GTCTCAGGAGTCCCCACCATCTCAGCCGTCCCCACGGTCTCAGGAGTCCC CATGGTCTCAACCGTCTCCACGGTCTCAGGAGTCCCCACGGTCTCAGGAG CCCCCACGGTCTCAGGAGCCCCCACGGTCTCAGTCATCCCCACGGTCCCA GCCGTCCCCACGGTCCAAGCCGTCCCCACGGTCCCAGCCGTCCCCACGGT CTCAGCCGTCCCCACGGTCTCCGCAGTCCCCACGGTCTCAGCCATCCCCA TGGTCTCAGGAGTCCCCATGGTCTCAGCCGTCCCCACGGTCTCAGAAGTC CCCACGGTCTCAGCCGTCCCCACGGTCTCAGGAGCCCCCACGGTCTCAGC CGTCCCCATGGTCTCAGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 NA19043.hp1 HG02896.hp1 NA19043.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0045 a0004c0006t0001g0057 a0004c0006t0001g0045 a0004c0006t0001g0057	2	224	0.0089	918	c.-20 others(929): Show c.-2066_-2065insGACTGAGACCATGGGGACGGCTGAGACCGTGGGG GCTCCTGAGACCGTGGGGACGGCTGAGACCGTGGGGACTTCTGAGACCGT GGGGACGGCTGAGACCATGGGGACTCCTGAGACCATGGGGATGGCTGAGA CCGTGGGGACTGCGGAGACCGTGGGGACGGCTGAGACCGTGGGGACGGCT GGGACCGTGGGGACGGCTTGGACCGTGGGGACGGCTGGGACCGTGGGGAT GACTGAGACCGTGGGGGCTCCTGAGACCGTGGGGGCTCCTGAGACCGTGG GGACTCCTGAGACCGTGGAGACGGTTGAGACCATGGGGACTCCTGAGACC GTGGGGACGGCTGAGATGGTGGGGACTCCTGAGACGGTGGGGACGGCTGA GACTGTGGGGACTGCTGAGACCGTGGGGACTCCTGAGACCGTGGGGACGG CTGAGACCGTGGGGACTGCTGAGACGGTGGGGACGGCTGGGACCGTGGGG ACGGCTGAGACCCTGGGGATGGCTGAGACCCTGGGGACGGCTGAGTCCGT GGGGACTCCTGAGACCGTGGGGACGGCTGAGACCGTGGGGACTGCTGAGA CCGTGGGGACGGCTGAGACCGTGGGGACTCCTGAGACCGTGGGGACTGCT GAGACCGTGGGGACGGCTGAGACCGTGGGGACTGCTGAGACCACGGGGAT GGCTGAGACCATGGGGATAGCTGAGACTGTGGGGACTCCTGAGACCGTGG GGACAGCTGAGATCGTGGGGACTCCTGAGACCGTGGGGACGGCTGAGACC GCGGGGACTCCTGAGACCGTGGGGATGGCTGAGACCGTGAGGGCTCTTGA GACCGTGGGGACGGCTGAGACCGTGGGGACTGCTGAGACCACGGGGATGG CTGAGACCGTGGGGATAGCTGAGACTGTGGGGAC	HS3ST6	ENSG00000162040.7	transcript	ENST00000454677.3	protein_coding		1974		chr16	TogoVar
HS3ST6_chr16_1906475_1923415	1920388	A A	AGTCCCCA others(911): Show AGTCCCCACAGTCTCAGCTATCCCCACGGTCTCAGCCATCCCCGTGGTCT CAGCAGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCAGGAGCCCTCACG GTCTCAGCCATCCCCACGGTCTCAGGAGTCCCCGCGGTCTCAGCCGTCCC CACGGTCTCAGGAGTCCCCACGATCTCACCTGTCCCCACGGTCTCAGGAG TCCCCACAGTCTCAGCTATCCCCATGGTCTCAGCCATCCCCGTGGTCTCA GCAGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCAGCAGTCCCCACGGT CTCAGGAGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCAGCAGTCCCCA CGGTCTCAGCCGTCCCCACGGTCTCAGGAGTCCCCACGGACTCAGCCGTC CCCAGGGTCTCAGCCATCCCCAGGGTCTCAGCCGTCCCCACGGTCCCAGC CGTCCCCACCGTCTCAGCAGTCCCCACGGTCTCAGCCGTCCCCACGGTCT CAGGAGTCCCCACGGTCTCAGCAGTCCCCACGGTCTCAGCCGTCCCCACC GTCTCAGGAGTCCCCACCATCTCAGCCGTCCCCACGGTCTCAGGAGTCCC CATGGTCTCAACCGTCTCCACGGTCTCAGGAGTCCCCACGGTCTCAGGAG CCCCCACGGTCTCAGGAGCCCCCACGGTCTCAGTCATCCCCACGGTCCCA GCCGTCCCCACGGTCCAAGCCGTCCCCACGGTCCCAGCCGTCCCCACGGT CTCAGCCGTCCCCACGGTCTCCGCAGTCCCCACGGTCTCAGCCATCCCCA CGGTCTCAGGAGTCCCCATGGTCTCAGCCGTCCCCACGGTCTCAGAAGTC CCCACGGTCTCAGCCGTCCCCACGGTCTCAGGAGCCCCCACGGTCTCAGC CGTCCCCATGGTCTCAGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0003 a0004c0019t0003	a0004c0019t0003g0046 a0004c0019t0003g0046	1	223	0.0045	918	c.-20 others(929): Show c.-2066_-2065insGACTGAGACCATGGGGACGGCTGAGACCGTGGGG GCTCCTGAGACCGTGGGGACGGCTGAGACCGTGGGGACTTCTGAGACCGT GGGGACGGCTGAGACCATGGGGACTCCTGAGACCGTGGGGATGGCTGAGA CCGTGGGGACTGCGGAGACCGTGGGGACGGCTGAGACCGTGGGGACGGCT GGGACCGTGGGGACGGCTTGGACCGTGGGGACGGCTGGGACCGTGGGGAT GACTGAGACCGTGGGGGCTCCTGAGACCGTGGGGGCTCCTGAGACCGTGG GGACTCCTGAGACCGTGGAGACGGTTGAGACCATGGGGACTCCTGAGACC GTGGGGACGGCTGAGATGGTGGGGACTCCTGAGACGGTGGGGACGGCTGA GACCGTGGGGACTGCTGAGACCGTGGGGACTCCTGAGACCGTGGGGACGG CTGAGACCGTGGGGACTGCTGAGACGGTGGGGACGGCTGGGACCGTGGGG ACGGCTGAGACCCTGGGGATGGCTGAGACCCTGGGGACGGCTGAGTCCGT GGGGACTCCTGAGACCGTGGGGACGGCTGAGACCGTGGGGACTGCTGAGA CCGTGGGGACGGCTGAGACCGTGGGGACTCCTGAGACCGTGGGGACTGCT GAGACCGTGGGGACGGCTGAGACCGTGGGGACTGCTGAGACCACGGGGAT GGCTGAGACCATGGGGATAGCTGAGACTGTGGGGACTCCTGAGACCGTGG GGACAGGTGAGATCGTGGGGACTCCTGAGACCGTGGGGACGGCTGAGACC GCGGGGACTCCTGAGACCGTGGGGATGGCTGAGACCGTGAGGGCTCCTGA GACCGTGGGGACGGCTGAGACCGTGGGGACTGCTGAGACCACGGGGATGG CTGAGACCGTGGGGATAGCTGAGACTGTGGGGAC	HS3ST6	ENSG00000162040.7	transcript	ENST00000454677.3	protein_coding		1974		chr16	TogoVar
IFNAR1_chr21_33319970_33364864	33322304	A A	AATATATA others(911): Show AATATATATATGGAACATATATATGGAATATATATATGGAATACATATAT GGAATATATATATATGGAATATATATATGCAATATATATATATGGAATAT ATATATGGAATATATATAGAATATATATATGGAATATATATATGGAATAT ATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAAT ATATATATGGAATATATATATGGAATATATATATGGAATATATACATGGA ATATATATATGGAATATATACATGGAATATATATATGGAATATATGTATA TGGAATATATGTATATGGAATATATACATGGAATATATGTATATGGAATA TATACATGGAATATATGTATATGGAATATATACATGGAATATATGTATAT GGAATATATACATGGAATATATGTATATGGAATATATACATGGAATATAT GTATATGGAATATATACATGGAATATATATATGGAATATATACATGGAAT ATATATATGGAATATATACATGGAATATATATATATGGAATATATACATG GAATATATATATATGGAATATATACATGGAATATATATATATGGAATATA TACATGGAATATATATATATGGAATATATACATGGAATATATATATATGG AATATATATATGGAATATATACATGGAATATATACATGGAATATATACAT GGAATATATACATGGAACATATATATATGGAACATATACGGAATATATAT ATGGAATATATATACGGAATATATATATATATGGAATATATATACGGAAT ATATATATGGAATATATATACGGAATATATATATGGAATATATATACGGA ATATATATATATGGAATATATATACGGAATATATATATGGAATATATATA TGGAATATGTATATGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	259	0.0039	918	c.-27 others(929): Show c.-2752_-2751insATATATATATGGAACATATATATGGAATATATAT ATGGAATACATATATGGAATATATATATATGGAATATATATATGCAATAT ATATATATGGAATATATATATGGAATATATATAGAATATATATATGGAAT ATATATATGGAATATATATATGGAATATATATATGGAATATATATATGGA ATATATATATGGAATATATATATGGAATATATATATGGAATATATATATG GAATATATACATGGAATATATATATGGAATATATACATGGAATATATATA TGGAATATATGTATATGGAATATATGTATATGGAATATATACATGGAATA TATGTATATGGAATATATACATGGAATATATGTATATGGAATATATACAT GGAATATATGTATATGGAATATATACATGGAATATATGTATATGGAATAT ATACATGGAATATATGTATATGGAATATATACATGGAATATATATATGGA ATATATACATGGAATATATATATGGAATATATACATGGAATATATATATA TGGAATATATACATGGAATATATATATATGGAATATATACATGGAATATA TATATATGGAATATATACATGGAATATATATATATGGAATATATACATGG AATATATATATATGGAATATATATATGGAATATATACATGGAATATATAC ATGGAATATATACATGGAATATATACATGGAACATATATATATGGAACAT ATACGGAATATATATATGGAATATATATACGGAATATATATATATATGGA ATATATATACGGAATATATATATGGAATATATATACGGAATATATATATG GAATATATATACGGAATATATATATATGGAATATATATACGGAATATATA TATGGAATATATATATGGAATATGTATATGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2665		chr21	TogoVar
IQSEC3_chr12_61767_183455	163370	C C	CTCCCTCC others(911): Show CTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGG ACCCCTCCCCTCCCCCTCCACAGAACCGGACCCCTCCCCTCCCCCTCCAC AGAACCGGACCCCTCCCCTCCCCCTCCACAGAACCGGACCCCTCCCCTCT CCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCG GACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTC TCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCACAGAACCGGACCCCTC CCCTCCCCTCCACAGAACCGGACCCCTCCCCTCTCCCTCCACAGAACCGG ACCCCTCCCCTCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTC CACAGAACCGGACCCCTCCCCTCTCCCTCCACAGAACCGGACCCCTCCCC TCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCC CTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCC CTCCCCTCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACA GAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCT CCCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAAC CGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCC TCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGA CCCCTCCCCTCCCCCTCCACAGAACCGGACCCCTCCCCTCCCCCTCCACA GAACCGGACCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0217 a0002c0001t0003g0217	1	279	0.0036	918	c.258 others(935): Show c.2584-107_2584-106insAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGACCCCTCCCCTCCCCCTCCACAGAACCGGACCCCTCCCCTCCCCCT CCACAGAACCGGACCCCTCCCCTCCCCCTCCACAGAACCGGACCCCTCCC CTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGA ACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCT CCTCTCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCACAGAACCGGACC CCTCCCCTCCCCTCCACAGAACCGGACCCCTCCCCTCTCCCTCCACAGAA CCGGACCCCTCCCCTCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTC CCTCCACAGAACCGGACCCCTCCCCTCTCCCTCCACAGAACCGGACCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCACAGAACCGGACCCCTCCCCTCTC CTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGG AGCCCTCCCCTCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTC CACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTC CCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACA GAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCT CTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAAC CGGACCCCTCCCCTCCCCCTCCACAGAACCGGACCCCTCCCCTCCCCCTC CACAGAACCGGACCCCTCCCCTGTCCCTCCACAGAACCGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KIRREL3_chr11_126418358_127005770	126632693	G G	GCCTCCTT others(911): Show GCCTCCTTCCCTGTGCAGCTGCTTTTCTGTCCTGCCCAAGAGCAGCCCTG GGGAGGGGGCAATTGAGTGAGGGACTGCGAATGCCAGAAAACATGGGTGA GAAGCATGTCCGCACCTCCCACCCAACCTGGTGGGAATCCTGTAAAGCCT GCCTGAACTCTTGTTCATATCGTTGCTGCATACTGGGCATTGGGAGATAA AAATTGATGAGGAGACATTAGTATACTTGTTACAGCAGTGGCTAATATGC AGTGGAGGAGGCTTGTGGGGAGAGAGAGAGAGAGAGAGAAAAGAAGAAGA AAAAGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGAAGGAGGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGA AGGAACGGTAGCGGCTATCCAAGGTGCGGACAACAGCCCTTATAGCCCTT ATGCAGCTCAGATGCCCACTCCATGACAGGTATGAGCTGACCTGGGCATG CATTCTCTGCAGGGAGACAATTACTGTTGCTGTGTGTGACAGGGTTGATA CATCCTGCTGAAGGTAGGCATCTCTGTGTTTCCTTATTTTGTAATCCTTT CAAGCCTTCTGAATCCAGCCTCTGTCTCCAGCTGTCCAGTTCTGGACAAG CCTGCTACTCAGTGGAACCCCTCGTTTCTACCCCCAGGTGGTCTAGGCAC TGAGGCTACAGAGGGCTATAAGGGCTGTTGTCCGCACCTTGGATAGCCGC TACCGTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTT TCCTTCCTTTCCTTTCCTTTCCTTTCTTTTTCTTCTTCTTTTCTCTCTCT CTCTCTCTCTCCCCACAAA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	100	0.0100	918	c.56- others(935): Show c.56-69782_56-69781insTTTGTGGGGAGAGAGAGAGAGAGAGAGA AAAGAAGAAGAAAAAGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGAAGGA GGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAACGGTAGCGGCTATC CAAGGTGCGGACAACAGCCCTTATAGCCCTCTGTAGCCTCAGTGCCTAGA CCACCTGGGGGTAGAAACGAGGGGTTCCACTGAGTAGCAGGCTTGTCCAG AACTGGACAGCTGGAGACAGAGGCTGGATTCAGAAGGCTTGAAAGGATTA CAAAATAAGGAAACACAGAGATGCCTACCTTCAGCAGGATGTATCAACCC TGTCACACACAGCAACAGTAATTGTCTCCCTGCAGAGAATGCATGCCCAG GTCAGCTCATACCTGTCATGGAGTGGGCATCTGAGCTGCATAAGGGCTAT AAGGGCTGTTGTCCGCACCTTGGATAGCCGCTACCGTTCCTTCCTTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CCTCCTTCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCTTTTTCTTCTTCT TTTCTCTCTCTCTCTCTCTCTCCCCACAAGCCTCCTCCACTGCATATTAG CCACTGCTGTAACAAGTATACTAATGTCTCCTCATCAATTTTTATCTCCC AATGCCCAGTATGCAGCAACGATATGAACAAGAGTTCAGGCAGGCTTTAC AGGATTCCCACCAGGTTGGGTGGGAGGTGCGGACATGCTTCTCACCCATG TTTTCTGGCATTCGCAGTCCCTCACTCAATTGCCCCCTCCCCAGGGCTGC TCTTGGGCAGGACAGAAAAGCAGCTGCACAGGGAAGGAGG	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
KIRREL3_chr11_126418358_127005770	126632693	G G	GCCTCCTT others(911): Show GCCTCCTTCCCTGTGCAGCTGCTTTTCTGTCCTGCCCAAGAGCAGCCCTG GGGAGGGGGCAATTGAGTGAGGGACTGCGAATGCCAGAAAACATGGGTGA GAAGCATGTCCGCACCTCCCACCCAACCTGGTGGGAATCCTGTAAAGCCT GCCTGAACTCTTGTTCATATCGTTGCTGCATACTGGGCATTGGGAGATAA AAATTGATGAGGAGACATTAGTATACTTGTTACAGCAGTGGCTAATATGC AGTGGAGGAGGCTTGTGGGGAGAGAGAGAGAGAGAGAGAAAAGAAGAAGA AAAAGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGAAGGAGGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA AGGAAGGAACGGTAGCGGCTATCCAAGGTGCGGACAACAGCCCTTATAGC CCTTATGCAGCTCAGATGCCCACTCCATGACAGGTATGAGCTGACCTGGG CATGCATTCTCTGCAGGGAGACAATTACTGTTGCTGTGTGTGACAGGGTT GATACATCCTGCTGAAGGTAGGCATCTCTGTGTTTCCTTATTTTGTAATC CTTTCAAGCCTTCTGAATCCAGCCTCTGTCTCCAGCTGTCCAGTTCTGGA CAAGCCTGCTACTCAGTGGAACCCCTCGTTTCTACCCCCAGGTGGTCTAG GCACTGAGGCTACAGAGGGCTATAAGGGCTGTTGTCCGCACCTTGGATAG CCGCTACCGTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTT TCCTTCCTTTCCTTTCCTTTCCTTTCTTTTTCTTCTTCTTTTCTCTCTCT CTCTCTCTCTCCCCACAAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0005 a0005c0006t0005	a0005c0006t0005g0017 a0005c0006t0005g0017	1	100	0.0100	918	c.56- others(935): Show c.56-69782_56-69781insTTTGTGGGGAGAGAGAGAGAGAGAGAGA AAAGAAGAAGAAAAAGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGAAGGA GGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAACGGTAGCGGCTATCCAAG GTGCGGACAACAGCCCTTATAGCCCTCTGTAGCCTCAGTGCCTAGACCAC CTGGGGGTAGAAACGAGGGGTTCCACTGAGTAGCAGGCTTGTCCAGAACT GGACAGCTGGAGACAGAGGCTGGATTCAGAAGGCTTGAAAGGATTACAAA ATAAGGAAACACAGAGATGCCTACCTTCAGCAGGATGTATCAACCCTGTC ACACACAGCAACAGTAATTGTCTCCCTGCAGAGAATGCATGCCCAGGTCA GCTCATACCTGTCATGGAGTGGGCATCTGAGCTGCATAAGGGCTATAAGG GCTGTTGTCCGCACCTTGGATAGCCGCTACCGTTCCTTCCTTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CCTCCTTCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCTTTTTCTTCTTCT TTTCTCTCTCTCTCTCTCTCTCCCCACAAGCCTCCTCCACTGCATATTAG CCACTGCTGTAACAAGTATACTAATGTCTCCTCATCAATTTTTATCTCCC AATGCCCAGTATGCAGCAACGATATGAACAAGAGTTCAGGCAGGCTTTAC AGGATTCCCACCAGGTTGGGTGGGAGGTGCGGACATGCTTCTCACCCATG TTTTCTGGCATTCGCAGTCCCTCACTCAATTGCCCCCTCCCCAGGGCTGC TCTTGGGCAGGACAGAAAAGCAGCTGCACAGGGAAGGAGG	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
KIRREL3_chr11_126418358_127005770	126632693	G G	GCCTCCTT others(911): Show GCCTCCTTCCCTGTGCAGCTGCTTTTCTGTCCTGCCCAAGAGCAGCCCTG GGGAGGGGGCAATTGAGTGAGGGACTGCGAATGCCAGAAAACATGGGTGA GAAGCATGTCCGCACCTCCCACCCAACCTGGTGGGAATCCTGTAAAGCCT GCCTGAACTCTTGTTCATATCGTTGCTGCATACTGGGCATTGGGAGATAA AAATTGATGAGGAGACATTAGTATACTTGTTACAGCAGTGGCTAATATGC AGTGGAGGAGGCTTGTGGGGAGAGAGAGAGAGAGAGAGAAAAGAAGAAGA AAAAGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGAAGGAGGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAAGGAAGGAACGGTAGCGGCTATCCAAGGTGCGGACAACAGCCCTTA TAGCCCTTATGCAGCTCAGATGCCCACTCCATGACAGGTATGAGCTGACC TGGGCATGCATTCTCTGCAGGGAGACAATTACTGTTGCTGTGTGTGACAG GGTTGATACATCCTGCTGAAGGTAGGCATCTCTGTGTTTCCTTATTTTGT AATCCTTTCAAGCCTTCTGAATCCAGCCTCTGTCTCCAGCTGTCCAGTTC TGGACAAGCCTGCTACTCAGTGGAACCCCTCGTTTCTACCCCCAGGTGGT CTAGGCACTGAGGCTACAGAGGGCTATAAGGGCTGTTGTCCGCACCTTGG ATAGCCGCTACCGTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTT TCCTTCCTTTCCTTTCCTTTCCTTTCTTTTTCTTCTTCTTTTCTCTCTCT CTCTCTCTCTCCCCACAAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02080.hp1 HG01928.hp1 HG02080.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0013 a0004c0008t0001 a0001c0001t0013 a0004c0008t0001	a0001c0001t0013g0066 a0004c0008t0001g0108 a0001c0001t0013g0066 a0004c0008t0001g0108	2	101	0.0198	918	c.56- others(935): Show c.56-69782_56-69781insTTTGTGGGGAGAGAGAGAGAGAGAGAGA AAAGAAGAAGAAAAAGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGAAGGA GGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAAGGAAGGAACGGTAGCGGCTATCCAAGGTGC GGACAACAGCCCTTATAGCCCTCTGTAGCCTCAGTGCCTAGACCACCTGG GGGTAGAAACGAGGGGTTCCACTGAGTAGCAGGCTTGTCCAGAACTGGAC AGCTGGAGACAGAGGCTGGATTCAGAAGGCTTGAAAGGATTACAAAATAA GGAAACACAGAGATGCCTACCTTCAGCAGGATGTATCAACCCTGTCACAC ACAGCAACAGTAATTGTCTCCCTGCAGAGAATGCATGCCCAGGTCAGCTC ATACCTGTCATGGAGTGGGCATCTGAGCTGCATAAGGGCTATAAGGGCTG TTGTCCGCACCTTGGATAGCCGCTACCGTTCCTTCCTTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CCTCCTTCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCTTTTTCTTCTTCT TTTCTCTCTCTCTCTCTCTCTCCCCACAAGCCTCCTCCACTGCATATTAG CCACTGCTGTAACAAGTATACTAATGTCTCCTCATCAATTTTTATCTCCC AATGCCCAGTATGCAGCAACGATATGAACAAGAGTTCAGGCAGGCTTTAC AGGATTCCCACCAGGTTGGGTGGGAGGTGCGGACATGCTTCTCACCCATG TTTTCTGGCATTCGCAGTCCCTCACTCAATTGCCCCCTCCCCAGGGCTGC TCTTGGGCAGGACAGAAAAGCAGCTGCACAGGGAAGGAGG	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(911): Show TGGTGGGGGTGGGGGTGATGATGGTGATGGTGGGGGTGATGACGGTGGGG CTGGGGGTGATGACGGTGGGGGTGATGACGGTGATGATGGGGGTGGGGTG GGGGTGATGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATG ACGGTGGGGGTGGGGGTGATGACGGTGATGGTGGGGGTGATGATGGTGAT GGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTGGGGG TGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACG GTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGATGGTGATGGT GGGGGTGATGATGGTGGGGGTGGGGGGGGTGATGATGGTGAGGGTGATGA TGGTGGGGGTAATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGG GTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGAC GGTGGGGGTGGGGGTGATGACGGTGATGGTAGGGGTGATGATGGTGGGGG TGGGGGTGGGGGTGAGGGTGATGATGGTGGGGGTGATGGTGGGGGTGGGG GTGGGGGTGGGGGTGATGATGGTGATGGTGGGGGTGATGATGGTGGGGGT GGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGA TGACGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTA GGGGTGATGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGATGAT GGTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGATGATGGTGA TGGTGGGGGTGATGATGGTGGGGGTGGGGGTGGGGGTGATGACGGTGGGG GTGGGGGTGATGACGGTGG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02280.hp2 HG01123.hp2 HG02280.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0041 a0003c0002t0001g0042 a0003c0002t0001g0041 a0003c0002t0001g0042	2	32	0.0625	918	c.956 others(935): Show c.956+1962_956+1963insCCACCGTCATCACCCCCACCCCCACCGT CATCACCCCCACCCCCACCCCCACCATCATCACCCCCACCATCACCATCA TCACCCCCACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACC CTCACCCCCACCCCCACCCCCACCCCCACCATCATCACCCCTACCATCAC CGTCATCACCCCCACCCCCACCGTCATCACCCCCACCGTCATCACCCCCA CCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCCCCACC ATCATCACCCCCACCATCACCATCATCACCCCCACCCCCACCCCCACCCC CACCATCACCCCCACCATCATCACCCTCACCCCCACCCCCACCCCCACCA TCATCACCCCTACCATCACCGTCATCACCCCCACCCCCACCGTCATCACC CCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCC CACCGTCATCACCCCCACCCCCACCGTCATTACCCCCACCATCATCACCC TCACCATCATCACCCCCCCCACCCCCACCATCATCACCCCCACCATCACC ATCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCAC CCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCA TCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCATCACCATC ATCACCCCCACCATCACCGTCATCACCCCCACCCCCACCGTCATCACCCC CACCCCCACCGTCATCACCCCCACATCACCGTCATCACCCCCACCCCACC CCCATCATCACCGTCATCACCCCCACCGTCATCACCCCCAGCCCCACCGT CATCACCCCCACCATCACCATCATCACCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATA others(911): Show TATATATATCCATATATATATATATCCATATATATATATATCCATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATATA TCCATATATATATATATCCATATATATATATATCCATATATATATATCCA TATATATATATATATCCATATATATATCCATATATATATATATCCATATA TATATATCCATATATATATATCCATATATATATATCCATATATATATATA TCCATATATATATATATCCATATATATATATCCATATATATATATATCCA TATATATATCCATATATATATATCCATATATATATATCCATATATATATA TATCCATATATATATATATCCATATATATATATCCATATATATATATCCA TATATATATATATCCATATATATATATCCATATATATATCCATATATATA TCCATATATATATATCCATATATATATATCCATATATATATATCCATATA TATATATCCATATATATATATCCATATATATATATCCATATATATATATA TCCATATATATATATCCATATATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATATCCATATATATATATATCCATATATA TATCCATATATATATATATCCATATATATATCCATATATATATATATCCA TATATATATCCATATATATATATATCCATATATATATATCCATATATATA TATATCCATATATATATCCATATATATATATATCCATATATATATCCATA TATATATATATCCATATATATATATCCATATATATATATATCCATATATA TATATCCATATATATATATATCCATATATATATATCCATATATATATATA TCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0258 a0002c0002t0002g0258	1	207	0.0048	918	c.126 others(935): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATGGATATATATATATATGGATATATATATGGATATATATATATAT GGATATATATATATGGATATATATATATATGGATATATATATGGATATAT ATATATATGGATATATATATGGATATATATATATATGGATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATGGATATATATATATGGAT ATATATATATGGATATATATATATGGATATATATATATGGATATATATAT GGATATATATATGGATATATATATATGGATATATATATATATGGATATAT ATATATGGATATATATATATGGATATATATATATATGGATATATATATAT ATGGATATATATATATGGATATATATATATGGATATATATATGGATATAT ATATATATGGATATATATATATGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATGGATATATATATATGGAT ATATATATATATGGATATATATATGGATATATATATATATATGGATATAT ATATATGGATATATATATATATGGATATATATATATATGGATATATATAT ATATGGATATATATATATATGGATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATATGGATATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
MERTK_chr2_111893607_112034561	111944498	A A	AATTCCTT others(911): Show AATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAAT TCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCT GTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATT CCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCT CTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTA TTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTC CTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAAT TATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAAT TCCTCTGTTTTAAGGAATT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0010 a0010	a0010c0026 a0010c0026	a0010c0026t0002 a0010c0026t0002	a0010c0026t0002g0067 a0010c0026t0002g0067	1	47	0.0213	918	c.483 others(933): Show c.483-427_483-426insTTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCT GTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATT CCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCT CTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTA TTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTC CTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAAT TATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAAT TCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTA	MERTK	ENSG00000153208.19	transcript	ENST00000295408.9	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
MGMT_chr10_129462241_129775983	129518568	C C	CCCTCCCC others(911): Show CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTGCC CCCTCCCCTCCCTGCCCCCTCCCCCTCCTCCCCTCCCTCCCCCCTCCCCC TCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCC TCCTCCCCTCCCTCCCCCCTCCCCCTCCTCTTCTTTCACCTCCCCTCCTC TTCCTTCACCTCCCCCTCCCCCCAATCACCTCCCCCTCCCCCCGCTCACC TCCCCCTCCCCCCACTCCTCCCCCTCTCACTCCTCCCCCTCCCTCCTCCC CCTGCCCTTCCCCTCCCTCCTCCCCCTCCTCCCCCTCTCCCTCTCTCTGT CTTCCCCCCTCCCCCTCCCTTTTCCCCCTCCCCCTCCCCTCCCCCCTTCC CCCTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCTCCC CTCCCCTTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCCTTCCCCTC CCCCTCCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCCC CCTTCCCCCTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCCTTCCC CTTCCCCCTCCCCCTTCCCCTCCCCCTTACTCTCCCCTTCCCCTTCCCCT CCCCCTTACTCTCCCCTTCCCCTCCCCTCCCCCCTCTCCCTCACCCTCAC CCTCCCCCTTCTCCTCCCCTCCCCCCTCTCCATCCCCCTCCCCCTCCCCC TTCTCCTCCCCTCCTCCTCCTTCCCGTCTCCCTCCCCATCTCCATCCCCC TCCCCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0051 a0001c0001t0004g0051	1	3	0.3333	918	c.-12 others(937): Show c.-12-17662_-12-17661insTCCCCTCCCTTCCCCCTCCCCCTCCT CCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCT CCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCT CCCCTCCCTGCCCCCTCCCCTCCCTGCCCCCTCCCCCTCCTCCCCTCCCT CCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCT TCCCCCTCCCCCTCCTCCCCTCCCTCCCCCCTCCCCCTCCTCTTCTTTCA CCTCCCCTCCTCTTCCTTCACCTCCCCCTCCCCCCAATCACCTCCCCCTC CCCCCGCTCACCTCCCCCTCCCCCCACTCCTCCCCCTCTCACTCCTCCCC CTCCCTCCTCCCCCTGCCCTTCCCCTCCCTCCTCCCCCTCCTCCCCCTCT CCCTCTCTCTGTCTTCCCCCCTCCCCCTCCCTTTTCCCCCTCCCCCTCCC CTCCCCCCTTCCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCCTTCC CCCTCCCCTCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTC CCCCTTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCC CCTTCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCTTCCCCCTCCCC CTCCCCCTTCCCCTTCCCCCTCCCCCTTCCCCTCCCCCTTACTCTCCCCT TCCCCTTCCCCTCCCCCTTACTCTCCCCTTCCCCTCCCCTCCCCCCTCTC CCTCACCCTCACCCTCCCCCTTCTCCTCCCCTCCCCCCTCTCCATCCCCC TCCCCCTCCCCCTTCTCCTCCCCTCCTCCTCCTTCCCGTCTCCCTCCCCA TCTCCATCCCCCTCCCCCTCCTCCTCCTCCTCCTCCCCCTCC	MGMT	ENSG00000170430.10	transcript	ENST00000651593.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MICAL3_chr22_17782649_18029561	17877396	G G	GGGAGGTT others(911): Show GGGAGGTTAGGGAGGTTATGGAGGTTAGAGAAGTTATGGAGGTTAGGGAG GTTATGAAGGTTAGGGAGGTTACGGAGGTTATGGAGGTTAGGGAAGTTAT GGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGG TTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATG GAGGTTAGAGAAGTTATGGAGGTTAGGGAGGTTATGAAGGTTAGGGAGGT TACGGAGGTTATGGAGGTTAGGGAGATTATGGAGGTTATGGAGGTTAGGG AGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTT ATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGA GGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTA GGGAGGTTAGGGAGCTTATGGAGGTTAGAGAAGTTATGGAGGTTAGGGAG GTTATGAAGGTTAGGGAGGTTACGGAGGTTATGGAGGTTAGGGAAGTTAT GGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGG TTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATG GAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGAGAAGTTATGGAGGT TAGGGAGGTTATGAAGGTTAGGGAGGTTACGGAGGTTATGGAGGTTAGGG AAGTTATGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTT ATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGA GGTTATGGAGGTTAGAGAAGTTATGGAGGTTAGGGAGGTTATGAAGGTTA GGGAGGTTACGGAGGTTAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0004 a0004	a0004c0022 a0004c0022	a0004c0022t0001 a0004c0022t0001	a0004c0022t0001g0221 a0004c0022t0001g0221	1	145	0.0069	918	c.224 others(937): Show c.2242-5374_2242-5373insATAACCTCCGTAACCTCCCTAACCTT CATAACCTCCCTAACCTCCATAACTTCTCTAACCTCCATAACCTCCCTAA CCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCC CTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCATAACTTCCCTAAC CTCCATAACCTCCGTAACCTCCCTAACCTTCATAACCTCCCTAACCTCCA TAACTTCTCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACC TCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCAT AACTTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCATAACTT CCCTAACCTCCATAACCTCCGTAACCTCCCTAACCTTCATAACCTCCCTA ACCTCCATAACTTCTCTAACCTCCATAAGCTCCCTAACCTCCCTAACCTC CATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAA CCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCC CTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAAC CTCCATAACCTCCATAATCTCCCTAACCTCCATAACCTCCGTAACCTCCC TAACCTTCATAACCTCCCTAACCTCCATAACTTCTCTAACCTCCATAACC TCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCAT AACTTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCATAACTT CCCTAACCTCCATAACCTCCGTAACCTCCCTAACCTTCATAACCTCCCTA ACCTCCATAACTTCTCTAACCTCCATAACCTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43432638	A A	AAAGGGAG others(911): Show AAAGGGAGGAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAA AGGGAGGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAA GGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAA AGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGG AGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGA GAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGAGAGAG AGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGA GAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAA GGGAGGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAA AGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGA GGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAG AAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGA GATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAGAAAGGGAGG AGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGG AGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAG AGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGG AGGAGAGAGAGAAAGGGAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	229	0.0044	918	c.225 others(935): Show c.225-2396_225-2395insAAGGGAGGAGAGAGAGGGAAAGAGAGAG AGAAGGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGA AAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAG AGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGA GAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAG GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGA GGAGAGAGAGAAAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG GAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGA AAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAG ATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAG AGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGA GAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGA GGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGATAAAG GGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGG AGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6			chr22	TogoVar
NFATC1_chr18_79390930_79534323	79532188	T T	TCGGCAGA others(911): Show TCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCC CCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGAC CCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCT CCGCCTGCAGCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCC CGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCC TCCTGTCTCCGCCTGCAGCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCG CCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCC CCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCTC GGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCT CCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCG CCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCC CCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCC GGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCT CCTGTCTCCGCCTGCAGTCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCG CCTGCAGCCCCCCGCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0229 a0002c0002t0001g0229	1	235	0.0043	918	c.46 others(929): Show c.4611_*4612insCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT TGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCC CGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGG CAGACCCTCCTGTCTCCGCCTGCAGCCCCCGCCCCTCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTG CAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCG CCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCGCCCCTCGGCAG ACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGT CTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGC AGTCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGC CCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAG ACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGT CTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGC AGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGC CCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCTCGGCAG ACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2866		chr18	TogoVar
NOC4L_chr12_132139457_132157468	132150101	C C	CCACACCC others(911): Show CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCC TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0030 a0001c0004t0001g0030	1	253	0.0040	918	c.902 others(933): Show c.902-880_902-879insCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC ACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCCT	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCTCCTCT others(911): Show TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCCACCCTCCCCCCCTCCCCTTCCCCT TCCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCACC CTCCCCCCCTCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCT CCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCC CTTCCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTT CCCTCTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	206	0.0049	918	c.433 others(935): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAGAGGG AAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGG GGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGAGGGGGGGAGGGTGGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGGAAGGGGAAGG GGAGGGGGGGAGGGTGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(911): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATG GGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGG GAGACAAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGG GGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGGGGAGGGGG AGAGAGGGGGAGAGAAAAGGAGAGGGGGAGAGGGGGAGAGAAGGGGAGAG AAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGA GAGGTGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGG GGAGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAG GGGGGGAGGGGGGGAGGGGGAGAGGGGGAGAGGGGGAGAGGGGGAGAGGG GGAGGGGGAGGAGGGGGAGAGGGGAGGAGGGGGAGAGGGGGAGGAGGGGG AGAGGGGGAGGAGGGGGAGAGGGGGAAGTGGGAAGGGGCAAGAGAGAGGG CGAGAGAGAGGGCGGGTGAGAGAGGGCGAGTGAGAGAGAGAGGGCGAGTG AGAGAGAGAGGGCAGGTGAGAGAGAGGGCGAGAGAAAGAGAGGGTGGGCA AGAGAGAGAGGGCGAGGGCGAGAGAGAGAGAGGGCGAGAGAGAGAGGGCG GGCGAGAGAGAGGGCAGGCGAGAGAGAGGGCGGGTGAGAGAGAGAGAGGG TGGGCAAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGGGCGGG CAAGAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGTGAGAGGGCGAGAG GGAGAGAGAGGGAGAGGGCGAGAGGGAGAGAAAGAGGGAGAGAAAGAGGG AGAGAAAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0004 a0004	a0004c0042 a0004c0042	a0004c0042t0001 a0004c0042t0001	a0004c0042t0001g0107 a0004c0042t0001g0107	1	24	0.0417	918	c.371 others(935): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTTTCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCC TCTCACTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTC TCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCCTCTCTC TCTCTCACCCGCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGCCCTCTC TCTCTCGCCCTCTCTCTCTCTCGCCCTCGCCCTCTCTCTCTTGCCCACCC TCTCTTTCTCTCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCACTCGCCC TCTCTCTCTCACTCGCCCTCTCTCACCCGCCCTCTCTCTCGCCCTCTCTC TTGCCCCTTCCCACTTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCT CCCCCTCTCCCCCTCCTCCCCTCTCCCCCTCCTCCCCCTCCCCCTCTCCC CCTCTCCCCCTCTCCCCCTCTCCCCCTCCCCCCCTCCCCCCCTCCTCCCC CTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCC CCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCACCTCTCCCCCTCT CCCCCTCCTCCCCCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCT TCTCTCCCCCTCTCCCCCTCTCCTTTTCTCTCCCCCTCTCTCCCCCTCCC CCTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCT TCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTTGTCTCCCCCTCCCC TTCTCTCCCCCTCTCCCACTCTCTCCCTCCCCTTCTCTCCCCATCCCCTT CTCTCCCCATCCCCTTCTCTCCCCATCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
POLG_chr15_89311320_89339824	89325263	T T	TGAGTGAG others(911): Show TGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTG AGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAG AGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTG AGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAG TGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTG AGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAG TGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTG AGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAG AGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAG AGTGAGTGAGTGAGTGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTG AGAGAGTGAGTGAGTGAGTGAGTGAGAGTGAGTGAGTGAGAGAGTGAGTG AGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAG TGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTG AGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGTG AGTGAGTGAGTGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAG TGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGTGAG TGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAG AGAGTGAGTGAGTGAGTGAGTGAGTGAGAGTGAGTGAGAGAGTGAGTGAG AGAGTGAGTGAGTGAGTGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0001 a0002c0026t0001	a0002c0026t0001g0065 a0002c0026t0001g0065	1	377	0.0027	918	c.194 others(935): Show c.1949+186_1949+187insTCACTCACTCACTCACTCTCTCACTCAC TCTCTCACTCACTCTCACTCACTCACTCACTCACTCACTCTCTCTCACTC ACTCTCTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTCACTCTC ACTCACTCTCTCACTCACTCTCTCACTCTCTCACTCACTCACTCTCACTC ACTCACTCTCTCACTCACTCACTCACTCTCACTCACTCACTCACTCTCAC TCACTCTCTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCTCTC ACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCTC TCACTCACTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTC TCTCACTCACTCACTCTCACTCACTCACTCACTCACTCTCTCACTCACTC ACTCTCTCACTCACTCACTCACTCACACTCACTCACTCACTCTCTCACTC ACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCTCTCACTCAC TCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCTCTC ACTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTCTCTCAC TCACTCACTCACTCTCTCACTCACTCACTCACTCTCTCACTCACTCACTC TCTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTCACTCAC TCTCTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTC ACTCACTCACTCTCTCACTCACTCACTCACTCACTCACTCTCTCACTCAC TCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCTCTC ACTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
PPP2R2D_chr10_131896008_131964834	131917146	G G	GTGTAGGG others(911): Show GTGTAGGGACCTCAGGCGGGTGGAATGACACAGTGTTTGTAGGGACCTCA CACGGGTGGAATGACACAGTGTTTGCAGGGACCTCACGTGGGTGGAATGA CACAGTGTAGGGACCTCAGGCAGGTGGAATGACACAGTGTTTGTAGGGAC CTCACACGGGTGGAATGACACAGTGTTTGCAGGGACCTCACGTGGGTGGA ATGACACAGTGTAGGGACCTCAGGCGGGTGGAATGACACAGTGTAGGGAC CTCAGGCGGGTGGAATGACACAGTGTAGGGACCTCAGGTGGGCGGGATGA CACAGTGTTTGTAGGGACCTCAGGTGGGCGGGATGACACAGTGTTTGTAG GGACCTCAGGCGGGTGGGATGACACAGTGTAGGGACCTCATGCGGGTGGA ATGACAGTGTTTGTAGGGACCTCAGGCGGGTGGAATGGCAGTGTTTGTAG GGACCTCAGGCGGGTGGAATGACACAGTGTAGGGACCTCAGGCAGGTGGG ATGACACAGTGTTTGTAGGGACCTCAGGCGGGTGGAGTGACACAGTGTTT GTAGGGACCTCACGTGGGTGGAATGACACAGTGTAGGGACCTCAGGCGGG TGGGATGACACAGTGTAGGGATCTCACGTGGGTGGAATGACACAGTGTTT GTAGGGACCTCAGGCAAGTGGAATGACAGTGTAGGGACCTCACGGGGGTG GAATGACACAGTGTAGGGACCTCACATGGGTAGAAGGGCACAGCGTTTGT AGGGACCTCAGGCGGGTGGAATGACACAGTGTTTGTAGGGATCTCAGGCG GGTAGGATGACACAGTGTAGGGACCTCACGCGGGTGGAATGACAGTGTTT GTAGGGACCTCAGGCGGGTGGAATGACAGTGTTTGTAGGGACCTCACGCA GGTGGAATGACACAGCGTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00642.hp1 others(49): Show HG00099.hp1 HG00280.hp1 HG00642.hp1 HG00673.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01361.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01981.hp1 HG02055.hp1 HG02056.hp2 HG02129.hp2 HG02258.hp2 HG02280.hp1 HG02300.hp2 HG02559.hp2 HG02622.hp1 HG02717.hp2 HG02809.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp2 HG03130.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18957.hp2 NA18974.hp2 NA18986.hp2 NA18994.hp1 NA19030.hp1 NA19043.hp1 NA19067.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 others(13): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0021 a0001c0001t0029 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0072 a0001c0001t0074 a0001c0001t0078 a0001c0003t0037	a0001c0001t0005g0006 a0001c0001t0005g0017 a0001c0001t0005g0060 others(39): Show a0001c0001t0005g0006 a0001c0001t0005g0017 a0001c0001t0005g0060 a0001c0001t0005g0068 a0001c0001t0005g0137 a0001c0001t0005g0138 a0001c0001t0005g0140 a0001c0001t0005g0141 a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0005g0146 a0001c0001t0005g0147 a0001c0001t0005g0149 a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0007g0002 a0001c0001t0007g0039 a0001c0001t0007g0040 a0001c0001t0007g0069 a0001c0001t0007g0070 a0001c0001t0007g0071 a0001c0001t0008g0007 a0001c0001t0008g0026 a0001c0001t0008g0027 a0001c0001t0008g0167 a0001c0001t0014g0061 a0001c0001t0014g0062 a0001c0001t0014g0063 a0001c0001t0014g0065 a0001c0001t0014g0160 a0001c0001t0021g0024 a0001c0001t0029g0139 a0001c0001t0034g0191 a0001c0001t0035g0258 a0001c0001t0036g0158 a0001c0001t0055g0064 a0001c0001t0056g0125 a0001c0001t0057g0136 a0001c0001t0072g0006 a0001c0001t0074g0145 a0001c0001t0078g0130 a0001c0003t0037g0169	52	386	0.1347	918	c.100 others(937): Show c.100+15848_100+15849insTGTTTGTAGGGACCTCACACGGGTGG AATGACACAGTGTTTGCAGGGACCTCACGTGGGTGGAATGACACAGTGTA GGGACCTCAGGCAGGTGGAATGACACAGTGTTTGTAGGGACCTCACACGG GTGGAATGACACAGTGTTTGCAGGGACCTCACGTGGGTGGAATGACACAG TGTAGGGACCTCAGGCGGGTGGAATGACACAGTGTAGGGACCTCAGGCGG GTGGAATGACACAGTGTAGGGACCTCAGGTGGGCGGGATGACACAGTGTT TGTAGGGACCTCAGGTGGGCGGGATGACACAGTGTTTGTAGGGACCTCAG GCGGGTGGGATGACACAGTGTAGGGACCTCATGCGGGTGGAATGACAGTG TTTGTAGGGACCTCAGGCGGGTGGAATGGCAGTGTTTGTAGGGACCTCAG GCGGGTGGAATGACACAGTGTAGGGACCTCAGGCAGGTGGGATGACACAG TGTTTGTAGGGACCTCAGGCGGGTGGAGTGACACAGTGTTTGTAGGGACC TCACGTGGGTGGAATGACACAGTGTAGGGACCTCAGGCGGGTGGGATGAC ACAGTGTAGGGATCTCACGTGGGTGGAATGACACAGTGTTTGTAGGGACC TCAGGCAAGTGGAATGACAGTGTAGGGACCTCACGGGGGTGGAATGACAC AGTGTAGGGACCTCACATGGGTAGAAGGGCACAGCGTTTGTAGGGACCTC AGGCGGGTGGAATGACACAGTGTTTGTAGGGATCTCAGGCGGGTAGGATG ACACAGTGTAGGGACCTCACGCGGGTGGAATGACAGTGTTTGTAGGGACC TCAGGCGGGTGGAATGACAGTGTTTGTAGGGACCTCACGCAGGTGGAATG ACACAGCGTTTGTAGGGACCTCAGGCGGGTGGAATGACACAG	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R2D_chr10_131896008_131964834	131917146	G G	GTGTAGGG others(911): Show GTGTAGGGACCTCAGGCGGGTGGAATGACACAGTGTTTGTAGGGACCTCA CACGGGTGGAATGACACAGTGTTTGCAGGGACCTCACGTGGGTGGAATGA CACAGTGTAGGGACCTCAGGCAGGTGGAATGACACAGTGTTTGTAGGGAC CTCACACGGGTGGAATGACACAGTGTTTGCAGGGACCTCACGTGGGTGGA ATGACACAGTGTAGGGACCTCAGGCGGGTGGAATGACACAGTGTAGGGAC CTCAGGCGGGTGGAATGACACAGTGTAGGGACCTCAGGTGGGCGGGATGA CACAGTGTTTGTAGGGACCTCAGGTGGGCGGGATGACACAGTGTTTGTAG GGACCTCAGGCGGGTGGGATGACACAGTGTAGGGACCTCATGCGGGTGGA ATGACAGTGTTTGTAGGGACCTCAGGCGGGTGGAATGGCAGTGTTTGTAG GGACCTCAGGCGGGTGGAATGACACAGTGTAGGGACCTCAGGCAGGTGGG ATGACACAGTGTTTGTAGGGACCTCAGGCGGGTGGAGTGACACAGTGTTT GTAGGGACCTCACGTGGGTGGAATGACACAGTGTAGGGACCTCAGGTGGG TGGGATGACACAGTGTAGGGATCTCACGTGGGTGGAATGACACAGTGTTT GTAGGGACCTCAGGCAAGTGGAATGACAGTGTAGGGACCTCACGGGGGTG GAATGACACAGTGTAGGGACCTCACATGGGTAGAAGGGCACAGCGTTTGT AGGGACCTCAGGCGGGTGGAATGACACAGTGTTTGTAGGGATCTCAGGCG GGTAGGATGACACAGTGTAGGGACCTCACGCGGGTGGAATGACAGTGTTT GTAGGGACCTCAGGCGGGTGGAATGACAGTGTTTGTAGGGACCTCACGCA GGTGGAATGACACAGCGTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0142 a0001c0001t0005g0142	1	335	0.0030	918	c.100 others(937): Show c.100+15848_100+15849insTGTTTGTAGGGACCTCACACGGGTGG AATGACACAGTGTTTGCAGGGACCTCACGTGGGTGGAATGACACAGTGTA GGGACCTCAGGCAGGTGGAATGACACAGTGTTTGTAGGGACCTCACACGG GTGGAATGACACAGTGTTTGCAGGGACCTCACGTGGGTGGAATGACACAG TGTAGGGACCTCAGGCGGGTGGAATGACACAGTGTAGGGACCTCAGGCGG GTGGAATGACACAGTGTAGGGACCTCAGGTGGGCGGGATGACACAGTGTT TGTAGGGACCTCAGGTGGGCGGGATGACACAGTGTTTGTAGGGACCTCAG GCGGGTGGGATGACACAGTGTAGGGACCTCATGCGGGTGGAATGACAGTG TTTGTAGGGACCTCAGGCGGGTGGAATGGCAGTGTTTGTAGGGACCTCAG GCGGGTGGAATGACACAGTGTAGGGACCTCAGGCAGGTGGGATGACACAG TGTTTGTAGGGACCTCAGGCGGGTGGAGTGACACAGTGTTTGTAGGGACC TCACGTGGGTGGAATGACACAGTGTAGGGACCTCAGGTGGGTGGGATGAC ACAGTGTAGGGATCTCACGTGGGTGGAATGACACAGTGTTTGTAGGGACC TCAGGCAAGTGGAATGACAGTGTAGGGACCTCACGGGGGTGGAATGACAC AGTGTAGGGACCTCACATGGGTAGAAGGGCACAGCGTTTGTAGGGACCTC AGGCGGGTGGAATGACACAGTGTTTGTAGGGATCTCAGGCGGGTAGGATG ACACAGTGTAGGGACCTCACGCGGGTGGAATGACAGTGTTTGTAGGGACC TCAGGCGGGTGGAATGACAGTGTTTGTAGGGACCTCACGCAGGTGGAATG ACACAGCGTTTGTAGGGACCTCAGGCGGGTGGAATGACACAG	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKCZ_chr1_2045411_2190395	2106681	A A	AACTCTCA others(911): Show AACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCA GGCCAGGTGACTCTTCAGCAGGCCCCTCTGGTGGGCGAGGACCTCCACAC GTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGAC CTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTG GGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCC CTCCAGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGCGACTCTCA GCAAGCCCCTCCAGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGC GACTCTCAGCAAGCCCCTCCAGTGGGCGAGGACCTCCATGCGTGTCACCA GGCCAGGTAACTCTCAGCAAGCCCCTCTGGTGGGCGAGGACCTCCACGTG TGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACC TCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCTGGTGG GCGAGGACCTCCACACGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCC TCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCA GCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGT AACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCA GGCCAGGTGACTCTTCAGCAAGCCCCTCTGGTGGGCGAGGACCTCCACGT GTGTCACCAGGCCAGGTAACTCTTCAGCAGGCCCCTCTGGTGGGCGAGGA CCTCCACACGTGTCACCAGGCCAGGTAACTCTTCAGCAGGCCCCTCCACA CGTGTCACCAGGCCAGGTG	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18975.hp2 NA18954.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0053 a0001c0001t0001g0055	2	235	0.0085	918	c.335 others(937): Show c.335-28544_335-28543insCACGTGTCACCAGGCCAGGTGACTCT TCAGCAGGCCCCTCTGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCA GGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCA CCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCA TGCGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCAGTGGGCGAG GACCTCCATGCGTGTCACCAGGCCAGGCGACTCTCAGCAAGCCCCTCCAG TGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGCGACTCTCAGCAAGC CCCTCCAGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTAACTCT CAGCAAGCCCCTCTGGTGGGCGAGGACCTCCACGTGTGTCACCAGGCCAG GTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCAC CAGGCCAGGTGACTCTTCAGCAGGCCCCTCTGGTGGGCGAGGACCTCCAC ACGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGG ACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGG TGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTAACTCTCAGCAAGC CCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTGACTCT TCAGCAAGCCCCTCTGGTGGGCGAGGACCTCCACGTGTGTCACCAGGCCA GGTAACTCTTCAGCAGGCCCCTCTGGTGGGCGAGGACCTCCACACGTGTC ACCAGGCCAGGTAACTCTTCAGCAGGCCCCTCCACACGTGTCACCAGGCC AGGTGACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCA	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF31_chr19_54110754_54136713	54133807	C C	CCTCTCTC others(911): Show CCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTC TCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCT CCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCT CTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCT TCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCT CTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACC TCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTC TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC CCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCC TCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCC ACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCT CTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTC CACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTC CCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTC TCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCAC CTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCC CCTCCCTCTGTCCCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	172	0.0058	918	c.23 others(929): Show c.2375_*2376insCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTC TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC CCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTC TCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCAC CTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCT CTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCC CTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCC TCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCC CCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCT CCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACC TCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTC TCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTC CCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTTC CCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCT	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2095		chr19	TogoVar
RAB7B_chr1_205971740_206008395	205985782	C C	CCCCACCA others(911): Show CCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCA CCATCCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCATC CCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCAC CATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGGCTCACCATCC CCACCAGGCCCACCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACC ATCCCCACCAGGCCCACCATCCCCACCATCCCCACCAGGCTCACCATCCC CACCATCCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCA TCCCCACCAGGCCCACCATCCCCACCAGGCTCACCATCCCCACCAGGCTC ACCATCCCCACCAGGCTCACCATCCCCACCAGGCCCACCAGGCCCACCAT CCCCACCAGGCTCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCA CCATCCCCACCAGGCCCACCATCCCCACCAGGCCCACCATCCCCACCATC CCCACCAGGCTCACCAGGCCCACCATCCCCACCATCCCCACCAGGCTCAC CAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGGC CCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACC AGGCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCC CACCAGGCTCACCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCA TCCCCACCAGGCCCACCAGGCCCACCATCCCCATCAGGCCCACCAGGCCC ACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCACCAG GCCCACCATCCCCATCAGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0171 a0001c0001t0007g0171	1	56	0.0179	918	c.397 others(933): Show c.397-118_397-117insCCTGATGGGGATGGTGGGCCTGGTGGGCCT GGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGG GCCTGATGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTG GTGGGGATGGTGGGGATGGTGGGCCTGGTGAGCCTGGTGGGGATGGTGGG CCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGG TGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGG ATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGAGCCTGGT GGGGATGGTGGGGATGGTGGGCCTGGTGAGCCTGGTGGGGATGGTGGGGA TGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTG GGCCTGGTGGGCCTGGTGGGGATGGTGAGCCTGGTGGGGATGGTGGGCCT GGTGGGCCTGGTGGGGATGGTGAGCCTGGTGGGGATGGTGAGCCTGGTGG GGATGGTGAGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATG GTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGGATGGTGAG CCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGCCTGG TGGGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGAGC CTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGT GGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGGA TGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGGATGGTGGGCCTGGTG GGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGG	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(911): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGATCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC GCCTGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCTG CCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGG AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGACCCCTC TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCC GCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCG CCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGG GAGGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0154 a0001c0001t0006g0154	1	5	0.2000	918	c.880 others(935): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG ACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCC TCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCAGCCGGGC AGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA TCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGA CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
ROBO2_chr3_77035099_77654964	77322837	A A	AATGATAT others(911): Show AATGATATTATAAAAATGTATTATCATAATATAAATAATATATAGACATA TATTATCAGTAAAATGAAATACTTAGGATAATATGACATTAGGTAATCTG TATGGATGGACTAATTTATAGATATTTATATTGAAATATTGTTAGATACT AAATCTTATTATATTATGACTAACTAGTAATATAGATTTATAATGAATTT GATTATAAGATATTATATATGATAATAATATATATAATTATATTATGAAT AATTTAATATATTATATTATAATATTTATGTAATCTAATATATTATATTA TATTATGGATAATATAATATATTATATTATGGATAATATAATATATTATA TTATGGATAATATAATATATTATATTATGGATAATATATTATATTATGGA TAATATAATATATTATATTATGGATAATATATTATATTATGGATAATATA ATATATTATATTATGGATAATATATTATATTATGGATAATATATTATATT ATGGATAATATATTATATTATGGATAATATATTATATTATGGATAATATA TTATATTATGGATAATATAATATATTATATTATGGATAATATAATATATT ATATTATGGATAATATAATATATTATATTATGGATAATATAATATATTAT ATTATGGATAATATAATATATTATATTATGGATAATATAATATATTATAT TATGGATAATATAATATATTATATTATGGATAATATAGTATATTATGGAT AATATAATATATTATATTATGGATAATATAATATATTATATTATGGATAA TATAATATATTATATTATGGATAATATAATATATTATATTATGGATAATA TAATATATTATATTATGGATAATATAATATATTATATAATATATTATATT ATGGATAATATAATATATT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0089 a0001c0001t0009g0089	1	160	0.0063	918	c.389 others(939): Show c.389-154575_389-154574insGATATTATAAAAATGTATTATCAT AATATAAATAATATATAGACATATATTATCAGTAAAATGAAATACTTAGG ATAATATGACATTAGGTAATCTGTATGGATGGACTAATTTATAGATATTT ATATTGAAATATTGTTAGATACTAAATCTTATTATATTATGACTAACTAG TAATATAGATTTATAATGAATTTGATTATAAGATATTATATATGATAATA ATATATATAATTATATTATGAATAATTTAATATATTATATTATAATATTT ATGTAATCTAATATATTATATTATATTATGGATAATATAATATATTATAT TATGGATAATATAATATATTATATTATGGATAATATAATATATTATATTA TGGATAATATATTATATTATGGATAATATAATATATTATATTATGGATAA TATATTATATTATGGATAATATAATATATTATATTATGGATAATATATTA TATTATGGATAATATATTATATTATGGATAATATATTATATTATGGATAA TATATTATATTATGGATAATATATTATATTATGGATAATATAATATATTA TATTATGGATAATATAATATATTATATTATGGATAATATAATATATTATA TTATGGATAATATAATATATTATATTATGGATAATATAATATATTATATT ATGGATAATATAATATATTATATTATGGATAATATAATATATTATATTAT GGATAATATAGTATATTATGGATAATATAATATATTATATTATGGATAAT ATAATATATTATATTATGGATAATATAATATATTATATTATGGATAATAT AATATATTATATTATGGATAATATAATATATTATATTATGGATAATATAA TATATTATATAATATATTATATTATGGATAATATAATATATTAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RPTOR_chr17_80539838_80971368	80744027	A A	ACTAGCAC others(911): Show ACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTGCTAGCACTG TCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTATCCTGGTTACTAGC ACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTAC TAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGG TTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCC CTGGTTACGAGCACAGCCCTGGTTACTAGCAGAGCCCTGGCTACTAGCAC TATCCTGGTTACTAGCACAGCCCTGGCTACTAGCAGAGCCCTGGCTACTA GCAGAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACAGCCCTGGTT ACTAGCAGAGCCCTGGCTACTAGCACTATCCTGGTTACTAGCACAGCCCT GGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTG TCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCAGAGCCCTGGCTAC TAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTATCCTGG CTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCAC TGTCCTGGTTACTAGCACTGTCCTGGTTGCTAGCACAGCCCTGGTTACTA GCACAGCCCTGGCTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGTT ACGAGCACAGCCCTGGTTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0071 a0001c0071	a0001c0071t0088 a0001c0071t0088	a0001c0071t0088g0035 a0001c0071t0088g0035	1	187	0.0053	918	c.655 others(935): Show c.655-9968_655-9967insCTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTGCTA GCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTATCCTGGTT ACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCACAGCCCT GGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTG TCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACAGCCCTGGTTACGAGCACAGCCCTGGTTACTAGCAGAGCCCTGGCTAC TAGCACTATCCTGGTTACTAGCACAGCCCTGGCTACTAGCAGAGCCCTGG CTACTAGCAGAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACAGCC CTGGTTACTAGCAGAGCCCTGGCTACTAGCACTATCCTGGTTACTAGCAC AGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTA GCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCAGAGCCCT GGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTA TCCTGGCTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTAC TAGCACTGTCCTGGTTACTAGCACTGTCCTGGTTGCTAGCACAGCCCTGG TTACTAGCACAGCCCTGGCTACTAGTACAGCCCTGGCTACTAGCACTGTC CTGGTTACGAGCACAGCCCTGGTTGCTAGCACAGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar

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