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
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(414): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG ATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGAGGGAGGGAG GGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGA AGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0095 a0001c0010t0005g0095	1	25	0.0400	421	c.259 others(442): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCCTCCCTCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCT TCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCC CTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTC CCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCT TCCCTCCCTCCCTCCCATCCTTTCCTTCTCTCCCACCCTCCCATCCCTCC TTTCCTTCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCTCT CCTTTCCTTCCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADAMTS2_chr5_179105853_179350461	179277906	C C	CCCCCCCC others(414): Show CCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACGCC CCCGCGAGACCAAAGGCTGACCCCCTCCGAGACCAAAGGCTGACACCCCC CGAGACCAAAGGCTGACCGCCCCCGAGACCAAAGGCTGACCCCCCCGTGA GACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGAC CAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCCGAGACCAA AGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCGCGAGACCAAAGGC TGACCCCCCCCCGAGACCAAAGGCTGACCCCCCCCCGAGACCAAAGGCTG ACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACC CCCCCGCGAGACCAAAGGCTGA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0020 a0020	a0020c0113 a0020c0113	a0020c0113t0029 a0020c0113t0029	a0020c0113t0029g0276 a0020c0113t0029g0276	1	200	0.0050	421	c.535 others(438): Show c.535-4843_535-4842insTCAGCCTTTGGTCTCGCGGGGGGGTCAG CCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCT TTGGTCTCGGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGTCAGCCTTT GGTCTCGCGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTC TCGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCG CGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCACGG GGGGGTCAGCCTTTGGTCTCGGGGGCGGTCAGCCTTTGGTCTCGGGGGGT GTCAGCCTTTGGTCTCGGAGGGGGTCAGCCTTTGGTCTCGCGGGGGCGTC AGCCGTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277906	C C	CCCCCCCC others(414): Show CCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACGCC CCCGCGAGACCAAAGGCTGACCCCCTCCGAGACCAAAGGCTGACACCCCC CGAGACCAAAGGCTGACCGCCCCCGAGACCAAAGGCTGACCGCCCCCGAG ACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACC AAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCCGAGACCAAA GGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCGCGAGACCAAAGGCT GACCCCCCCCCCGAGACCAAAGGCTGACCCCCCCCCGAGACCAAAGGCTG ACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACC CCCCCACGAGACCAAAGGCTGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03540.hp2 HG01167.hp2 HG03540.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0086 a0001c0001 a0010c0086	a0001c0001t0001 a0010c0086t0004 a0001c0001t0001 a0010c0086t0004	a0001c0001t0001g0065 a0010c0086t0004g0201 a0001c0001t0001g0065 a0010c0086t0004g0201	2	201	0.0100	421	c.535 others(438): Show c.535-4843_535-4842insTCAGCCTTTGGTCTCGTGGGGGGGTCAG CCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCT TTGGTCTCGGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGGTCAGCCTT TGGTCTCGCGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGT CTCGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTC GCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGG GGCGGTCAGCCTTTGGTCTCGGGGGCGGTCAGCCTTTGGTCTCGGGGGGT GTCAGCCTTTGGTCTCGGAGGGGGTCAGCCTTTGGTCTCGCGGGGGCGTC AGCCGTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277906	C C	CCCCCCCC others(414): Show CCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACGCC CCCGCGAGACCAAAGGCTGACCCCCTCCGAGACCAAAGGCTGACACCCCC CGAGACCAAAGGCTGACCGCCCCCGAGACCAAAGGCTGACCGCCCCCGAG ACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACC AAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCCGAGACCAAA GGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCGCGAGACCAAAGGCT GACCCCCCCCCCGAGACCAAAGGCTGACCCCCCCCCGAGACCAAAGGCTG ACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACC CCCCCGCGAGACCAAAGGCTGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01175.hp1 HG01258.hp1 others(20): Show HG00323.hp2 HG01175.hp1 HG01258.hp1 HG01433.hp1 HG01978.hp1 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02080.hp2 HG02129.hp1 HG02165.hp2 HG02735.hp1 HG02735.hp2 HG03239.hp1 NA18952.hp2 NA18970.hp1 NA18981.hp2 NA18984.hp1 NA18986.hp1 NA19007.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0017	a0001c0001 a0001c0004 a0001c0034 others(11): Show a0001c0001 a0001c0004 a0001c0034 a0002c0003 a0002c0005 a0002c0016 a0002c0102 a0003c0002 a0003c0007 a0003c0008 a0004c0033 a0005c0009 a0005c0056 a0017c0076	a0001c0001t0001 a0001c0001t0004 a0001c0004t0002 others(15): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0002 a0001c0034t0002 a0002c0003t0001 a0002c0003t0004 a0002c0005t0003 a0002c0005t0009 a0002c0016t0015 a0002c0102t0001 a0003c0002t0001 a0003c0007t0002 a0003c0008t0023 a0004c0033t0003 a0005c0009t0003 a0005c0009t0005 a0005c0056t0003 a0017c0076t0005	a0001c0001t0001g0068 a0001c0001t0004g0100 a0001c0004t0002g0005 others(20): Show a0001c0001t0001g0068 a0001c0001t0004g0100 a0001c0004t0002g0005 a0001c0034t0002g0134 a0002c0003t0001g0231 a0002c0003t0004g0236 a0002c0005t0003g0245 a0002c0005t0003g0265 a0002c0005t0003g0273 a0002c0005t0009g0238 a0002c0016t0015g0251 a0002c0102t0001g0250 a0003c0002t0001g0003 a0003c0002t0001g0031 a0003c0002t0001g0082 a0003c0002t0001g0099 a0003c0007t0002g0012 a0003c0008t0023g0188 a0004c0033t0003g0139 a0005c0009t0003g0038 a0005c0009t0005g0024 a0005c0056t0003g0103 a0017c0076t0005g0090	23	222	0.1036	421	c.535 others(438): Show c.535-4843_535-4842insTCAGCCTTTGGTCTCGCGGGGGGGTCAG CCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCT TTGGTCTCGGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGGTCAGCCTT TGGTCTCGCGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGT CTCGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTC GCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGG GGCGGTCAGCCTTTGGTCTCGGGGGCGGTCAGCCTTTGGTCTCGGGGGGT GTCAGCCTTTGGTCTCGGAGGGGGTCAGCCTTTGGTCTCGCGGGGGCGTC AGCCGTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277979	C C	CCTCCGAG others(414): Show CCTCCGAGACCAAAGGCTGACACCCCCCGAGACCAAAGGCTGACCGCCCC CGAGACCAAAGGCTGACCCCCCCGTGAGACCAAAGGCTGACCCCCCCCGA GACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCGCGAGA CCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAA AGGCTGACCCCCCGCGAGACCAAAGGCTGACCCCCCCCCCGAGACCAAAG GCTGACCCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCT GACCCCCCCGCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGA CCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCC CCGCGAGACCAAAGGCTGACCC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0004 a0001c0049t0004	a0001c0049t0004g0150 a0001c0049t0004g0150	1	262	0.0038	421	c.535 others(438): Show c.535-4916_535-4915insGGGTCAGCCTTTGGTCTCGCGGGGGGTC AGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCC TTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTT TGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGTCAGCCTTTGG TCTCGGGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGTCAGCCTTTGGTC TCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGC GGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGGGG GGGGTCAGCCTTTGGTCTCACGGGGGGGTCAGCCTTTGGTCTCGGGGGCG GTCAGCCTTTGGTCTCGGGGGGTGTCAGCCTTTGGTCTCGGAG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277979	C C	CCTCCGAG others(414): Show CCTCCGAGACCAAAGGCTGACACCCCCCGAGACCAAAGGCTGACCGCCCC CGAGACCAAAGGCTGACCCCCCCGTGAGACCAAAGGCTGACCCCCCCCGA GACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCGCGAGA CCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAA AGGCTGACCCCCCGCGAGACCAAAGGCTGACCCCCCCCCGAGACCAAAGG CTGACCCCCCCCCGAGACCAAAGGCTGACCCCCCCCCGAGACCAAAGGCT GACCCCCCCGCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGA CCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCC CCGCGAGACCAAAGGCTGACCC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0112 a0002c0112	a0002c0112t0001 a0002c0112t0001	a0002c0112t0001g0206 a0002c0112t0001g0206	1	262	0.0038	421	c.535 others(438): Show c.535-4916_535-4915insGGGTCAGCCTTTGGTCTCGCGGGGGGTC AGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCC TTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTT TGGTCTCGGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGTCAGCCTTTG GTCTCGGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGTCAGCCTTTGGTC TCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGC GGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGGGG GGGGTCAGCCTTTGGTCTCACGGGGGGGTCAGCCTTTGGTCTCGGGGGCG GTCAGCCTTTGGTCTCGGGGGGTGTCAGCCTTTGGTCTCGGAG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277979	C C	CCTCCGAG others(414): Show CCTCCGAGACCAAAGGCTGACACCCCCCGAGACCAAAGGCTGACCGCCCC CGAGACCAAAGGCTGACCCCCCCGTGAGACCAAAGGCTGACCCCCCCCGA GACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCGCGAGA CCAAAGGCTGACCCCCCCTGAGACCAAAGGCTGACCCCCCCCGAGACCAA AGGCTGACCCCCCGCGAGACCAAAGGCTGACCCCCCCCCCGAGACCAAAG GCTGACCCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCT GACCCCCCCGCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGA CCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCC CCGCGAGACCAAAGGCTGACCC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0107 a0002c0107	a0002c0107t0011 a0002c0107t0011	a0002c0107t0011g0212 a0002c0107t0011g0212	1	262	0.0038	421	c.535 others(438): Show c.535-4916_535-4915insGGGTCAGCCTTTGGTCTCGCGGGGGGTC AGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCC TTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTT TGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGTCAGCCTTTGG TCTCGGGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGTCAGCCTTTGGTC TCGGGGGGGGTCAGCCTTTGGTCTCAGGGGGGGTCAGCCTTTGGTCTCGC GGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGGGG GGGGTCAGCCTTTGGTCTCACGGGGGGGTCAGCCTTTGGTCTCGGGGGCG GTCAGCCTTTGGTCTCGGGGGGTGTCAGCCTTTGGTCTCGGAG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(414): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAG GGGGGGAGAGGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGG AAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGG GGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGG GGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGG GGGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	30	0.0333	421	c.51 others(432): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCC TCCCCTCCTCCCCTCTCCCCCTCCCCCCCTCTCCCCCCCTCCCCTCCTCC CTCCTCCCCCCTCCCCTCCTCCCCCCCCTCCCCTCCTCCCCCCCTCCTCC CCCCTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCC CCCTCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCC CCTCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(414): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAG GGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAA GGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGG AGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGG AAGGGGAGGGGGAGGGGGGAGGGAGGGGGAGGGCGGGGAGGAGGGGACGG GGGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0105 a0001c0001t0013g0105	1	30	0.0333	421	c.51 others(432): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCCTCCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCC CTCCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCT TCCCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCC CCTCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCC CTCCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCCTCCTCC CCCCTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCC CCCTCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCC CCTCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(414): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGG GGAGGAGGGGAGGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGA GGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGA AGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGG GAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGG GAAGGGGAGGGGGAGGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGG GGGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	30	0.0333	421	c.51 others(432): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCC TCCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTT CCCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCC CTCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCC TCCTCCCCCCTCCCCTCCTCCCCCCCCTCCCCTCCTCCCCCCCTCCTCCC CCCTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCC CCCTCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCC CCTCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADGRL3_chr4_61195326_62083335	61847896	T T	TTATATAT others(414): Show TTATATATATAATATAAAATATATTATATATATAATATAAAATATATTAT ATATATAATATAAAATATATTATATATAATATAAAATATATTATATATAA TATAAAATATATTATATATAATATAAAATATATTATATATAATATAAAAT ATATTATATATAATATAAAATATATTATACATATAATATAAAATATATTA TATATATAATATAAAATATATTATATATATAATATAAAATATATTATATA TATAATATAAAATATATTATATATAATATAAAATATATTATATATAATAT AAAATATATTATACATATAATATAAAATATATTATATATATAATATAAAA TATATTATATATATAATATAAAATATATTATATATAATATAAAATATATT ATATATAATATAAAATATATTA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0054 a0001c0002t0034g0054	1	10	0.1000	421	c.148 others(442): Show c.1480+34015_1480+34016insTAATATAAAATATATTATATATAT AATATAAAATATATTATATATATAATATAAAATATATTATATATAATATA AAATATATTATATATAATATAAAATATATTATATATAATATAAAATATAT TATATATAATATAAAATATATTATATATAATATAAAATATATTATACATA TAATATAAAATATATTATATATATAATATAAAATATATTATATATATAAT ATAAAATATATTATATATATAATATAAAATATATTATATATAATATAAAA TATATTATATATAATATAAAATATATTATACATATAATATAAAATATATT ATATATATAATATAAAATATATTATATATATAATATAAAATATATTATAT ATAATATAAAATATATTATATATAATATAAAATATATTATATATATA	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADPRHL1_chr13_113394611_113458488	113412847	C C	CCGCAGAG others(414): Show CCGCAGAGCTCGGTTCACCCACCGCCAACAGTGCCCCGCAGAACTCGGTT CACCCACCGCCAACAGCGCCCCGCGGAGCTCGGTTCACCCACCGCCAACA GCGCCCCGCAGAACTCGGTTCACCCACCGCCAACAGTACCCCGCAGAACT CGGTTCACCCACCGCCAACAGCGCCCCGCGGAACTCGGTTCACCCACCGC CAACAGTACCCCGCAGAACTCGGTTCACCCACCGCCAACAGTGCCCCGCA GAGCTCGGTTCACCCACCGCCAACAGCGCCCCGCAGAACTCGGTTCACCC ACCGCCAACAGCGCCCCACGGAGGCTCGGTTCACCCACCGCCAACAGCGC CTCGCAGAGCTCGGTTCACCCACCGCCAACAGCGCCCCGCAGAGCTCGGT TCACCCACCGCCAACAGCGCCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0087 a0002c0032t0087	a0002c0032t0087g0159 a0002c0032t0087g0159	1	260	0.0038	421	c.106 others(440): Show c.1062-4628_1062-4627insAGGCGCTGTTGGCGGTGGGTGAACCG AGCTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGCGAGGCGC TGTTGGCGGTGGGTGAACCGAGCCTCCGTGGGGCGCTGTTGGCGGTGGGT GAACCGAGTTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGCG GGGCACTGTTGGCGGTGGGTGAACCGAGTTCTGCGGGGTACTGTTGGCGG TGGGTGAACCGAGTTCCGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGTT CTGCGGGGTACTGTTGGCGGTGGGTGAACCGAGTTCTGCGGGGCGCTGTT GGCGGTGGGTGAACCGAGCTCCGCGGGGCGCTGTTGGCGGTGGGTGAACC GAGTTCTGCGGGGCACTGTTGGCGGTGGGTGAACCGAGCTCTGCG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113412948	T T	TGCCCCGC others(414): Show TGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAGTACCCCACAGAACTC GGTTCACCCACCGCCAACAGCGCCCCGCAGAACTCGGTTCACCCACCGCC AACAGCACCCCGCGGAGGCTCGGTTCACCCACCGCCAACAGCGCCCCGCA GAACTCGGTTCACCCACCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCC ACCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAGCGCC CCGCAGAGCTCGGTTCACCCACCGCCAACAGCGCCCCGCAGAGCTCGGTT CACCCACCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACA GCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAGCGCCCCGCAGAGCT CGGTTCACCCACCGCCAACAGC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0036	1	38	0.0263	421	c.106 others(440): Show c.1062-4729_1062-4728insGCTGTTGGCGGTGGGTGAACCGAGCT CTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGCGGGGCGCTGTT GGCGGTGGGTGAACCGAGCTCTGCGGGGCGCTGTTGGCGGTGGGTGAACC GAGCTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGCGGGGCG CTGTTGGCGGTGGGTGAACCGAGCTCTGCGGGGCGCTGTTGGCGGTGGGT GAACCGAGCTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGTTCTGCG GGGCGCTGTTGGCGGTGGGTGAACCGAGCCTCCGCGGGGTGCTGTTGGCG GTGGGTGAACCGAGTTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGT TCTGTGGGGTACTGTTGGCGGTGGGTGAACCGAGCTCTGCGGGGC	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113412948	T T	TGCCCCGC others(414): Show TGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAGTACCCCACAGAACTC GGTTCACCCACCGCCAACAGCGCCCCGCAGAACTCGGTTCACCCACCGCC AACAGCGCCCCGCGGAGGCTCGGTTCACCCACCGCCAACAGCGCCCCGCA GAACTCGGTTCACCCACCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCC ACCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAGCGCC CCGCAGAGCTCGGTTCACCCACCGCCAACAGCGCCCCGCAGAGCTCGGTT CACCCACCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACA GCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAGCGCCCCGCAGAGCT CGGTTCACCCACCGCCAACAGC	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA19004.hp1 NA18999.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0208 a0001c0001t0001g0209	2	39	0.0513	421	c.106 others(440): Show c.1062-4729_1062-4728insGCTGTTGGCGGTGGGTGAACCGAGCT CTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGCGGGGCGCTGTT GGCGGTGGGTGAACCGAGCTCTGCGGGGCGCTGTTGGCGGTGGGTGAACC GAGCTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGCGGGGCG CTGTTGGCGGTGGGTGAACCGAGCTCTGCGGGGCGCTGTTGGCGGTGGGT GAACCGAGCTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGTTCTGCG GGGCGCTGTTGGCGGTGGGTGAACCGAGCCTCCGCGGGGCGCTGTTGGCG GTGGGTGAACCGAGTTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGT TCTGTGGGGTACTGTTGGCGGTGGGTGAACCGAGCTCTGCGGGGC	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(414): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATACTATATATATATTCTATATAC AGAATATATATAGTATATATATTCTGTATACAGAATATATAGTATATATA TTCTATATACAGAATATATATAGTATATATATTCTGTATACAGAATATAT ATACTATATATATTCTATATACAGAATATATATAGTATATATATTCTATA TATAGAATATATATATAGTATATATATTCTGTATATAGAATATATATAGT ATATATATTCTGTATATAGAATATATATAGTATATATATTCTGTATATAG AATATATATACTATATTAATTC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	57	0.0175	421	c.409 others(440): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATACTA TATATATTCTATATACAGAATATATATACTATATATATATTCTATATATA GAATATATATACTATATATATTCTGTATATAGAATATATATAGTATATAT ATTCTGTATACAGAATATATATACTATATATATTCTGTATATAGAATATA TATACTATATATTCTGTATACAGAATATATATACTATATATATTCTGTAT ATAGAATATATATATAGTATATATATTCTGTATATAGAATATATATACTA TATATATTCTGTATATAGAATATATATACTATATATATTCTGTATATAGA ATATATATACTATATATATTCTGTATATAGAATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
ALK_chr2_29187774_29926586	29830941	A A	AGGGGAAG others(414): Show AGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGA GGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGCAGGAGCAGG AGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGCAG GAGCAGGAGCAGGAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGA GGAGGAGCAGGAGGAGGAGGAGCAGGAGCAGGAGCAGGAGCAGGAGGAGG AGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAG GAGCAGGAGCAGGAGCAGGAGCAGGAGGAGGAGGAGGAGCAGGAGGAGGA GGAGCAGGAGGAGGAGGAGCAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03225.hp1 HG02280.hp2 HG03225.hp1	a0002 a0003 a0002 a0003	a0002c0008 a0003c0005 a0002c0008 a0003c0005	a0002c0008t0001 a0003c0005t0002 a0002c0008t0001 a0003c0005t0002	a0002c0008t0001g0045 a0003c0005t0002g0046 a0002c0008t0001g0045 a0003c0005t0002g0046	2	77	0.0260	421	c.667 others(440): Show c.667+89051_667+89052insCTGCTCCTCCTCCTCCTGCTCCTCCT CCTCCTGCTCCTCCTCCTCCTCCTGCTCCTGCTCCTGCTCCTGCTCCTCC TCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTC CTCCTGCTCCTGCTCCTGCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCT CCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCTGCTCCTGCTCCTGC TCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTG CTCCTGCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCT CCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ARHGAP39_chr8_144524179_144690846	144687192	C C	CCCCGTGA others(414): Show CCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACA CTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACT TCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGAC CACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTG AGCACTTCCCACCCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCC CGTGACCACTCATTTACAGCGAGCACTTCCCACCCCGTGACCACACACTA GCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCC CACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACA CATTTACAGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	211	0.0047	421	c.-15 others(432): Show c.-1589_-1588insTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGG GTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTC ACGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTG CTCACCGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGT GTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTG GGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGC TAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACG GGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1347		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687228	C C	CCCCGTGA others(414): Show CCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACA CTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACT TCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGAC CACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTG AGCACTTCCCACCCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCC CGTGACCACTCATTTACAGCGAGCACTTCCCACCCCGTGACCACACACTA GCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCC CACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACA CATTTACAGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	209	0.0048	421	c.-16 others(432): Show c.-1625_-1624insTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGG GTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTC ACGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTG CTCACCGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGT GTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTG GGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGC TAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACG GGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1383		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687758	C C	CCCCGTGA others(414): Show CCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACACA CTGGCGGCGAGCACTTCCCACCCCTGTGACCACACATTTACAGCGAGCAC TTCTCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGAC CACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCG AGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCC TGTGACCACACATTTACAGCGAGCACTTCTCACCCCGTGACCACGCACTG GCGGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCACTTCC CACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACG CACTGGCGGCGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0125 a0001c0002t0001g0125	1	242	0.0041	421	c.-21 others(432): Show c.-2155_-2154insTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGG GTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGC CGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTC ACGGGGTGAGAAGTGCTCGCTGTAAATGTGTGGTCACAGGGGTGGGAAGT GCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGC GTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGG GAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGAGAAGTGCTCGCTGTA AATGTGTGGTCACAGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACG GGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1913		chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825143	T T	TTCACCTG others(414): Show TTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACC CCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCC CCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCTGCA CCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC CCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCA CCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCC CACACCCCACCTGTTCACCCGCACTCCACCTGTCCCCCCGCAATCCACCT GTCCCCCCGCACCCCACCTGTC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0002 a0002	a0002c0149 a0002c0149	a0002c0149t0047 a0002c0149t0047	a0002c0149t0047g0007 a0002c0149t0047g0007	1	352	0.0028	421	c.-48 others(438): Show c.-48+1030_-48+1031insTCACCTGCACCCCACCTGTCCCTCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCG CACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCC CACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCCCACCTGTTTAC TCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCACCCGCACTCCAC CTGTCCCCCCGCAATCCACCTGTCCCCCCGCACCCCACCTGTC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825143	T T	TTCACCTG others(414): Show TTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACC CCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCC CCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC CCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCA CCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCC CACACCCCACCTGTTCACCCGCACTCCACCTGTCCCCCCGCAATCCACCT GTCCCCCCGCACCCCACCTGTC	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19085.hp1 NA19082.hp2 NA19085.hp1	a0002 a0007 a0002 a0007	a0002c0151 a0007c0053 a0002c0151 a0007c0053	a0002c0151t0001 a0007c0053t0001 a0002c0151t0001 a0007c0053t0001	a0002c0151t0001g0011 a0007c0053t0001g0005 a0002c0151t0001g0011 a0007c0053t0001g0005	2	353	0.0057	421	c.-48 others(438): Show c.-48+1030_-48+1031insTCACCTGCACCCCACCTGTCCCTCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCTG CACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCC CACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCCCACCTGTTTAC TCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCACCCGCACTCCAC CTGTCCCCCCGCAATCCACCTGTCCCCCCGCACCCCACCTGTC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825259	A A	ACCCGCAC others(414): Show ACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTGCACCCCA CCTGTTCACCTGCACCCCACCTGTCCCCCCGCACCCCACCTGTCTCCCCG CACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCC CACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCC CCCACACCCCACCTGTTCACCCGCACTCCACCTGTCCCCCCGCACTCCAC CTGTCCCCCCGCACCCCACCTGTCCCCCCTGCACCTCACCTGTCCCCCCG CACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0003 a0001c0036t0003	a0001c0036t0003g0094 a0001c0036t0003g0094	1	361	0.0028	421	c.-48 others(438): Show c.-48+1148_-48+1149insCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCCCCG CACCCCACCTGTCTCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGT CCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCC CACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCCCACCTGTTTAC TCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCACCCGCACTCCAC CTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCTG CACCTCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASB5_chr4_176208673_176274222	176218377	A A	ATTTGTAT others(414): Show ATTTGTATGACATATAAATATATATATTTGTATGACATATAAATATATAT ATTTGTATGACATATAAATATATATGTATGATATATAAATATATATTTGT ATGATATATAAATATATATATTTGTATGATATATAAATATATATATTTGT ATGATATATAAATATATATATTTGTATGATATATAAATATATATATTTGT ATGATATATAAATATATATATTTGTATGATATATAAATATATATATGTAT GATATATAAATATATATATTTGTATGATATATAAATATATATATTTGTAT GATATATAAATATATATATTTGTATGATATATAAATATATATATATTTGT ATGATATATAAATATATATATATTTGTATGATATATAAATATATATATTT GTATGATATACAAATATATATT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG04184.hp2 HG04228.hp2 others(2): Show HG00609.hp2 HG04184.hp2 HG04228.hp2 NA18612.hp2 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0261 a0001c0002t0001g0284 others(2): Show a0001c0002t0001g0008 a0001c0002t0001g0261 a0001c0002t0001g0284 a0001c0002t0001g0291 a0001c0002t0001g0358	5	315	0.0159	421	c.671 others(438): Show c.671-1369_671-1368insAATATATATTTGTATATCATACAAATAT ATATATTTATATATCATACAAATATATATATATTTATATATCATACAAAT ATATATATATTTATATATCATACAAATATATATATTTATATATCATACAA ATATATATATTTATATATCATACAAATATATATATTTATATATCATACAT ATATATATTTATATATCATACAAATATATATATTTATATATCATACAAAT ATATATATTTATATATCATACAAATATATATATTTATATATCATACAAAT ATATATATTTATATATCATACAAATATATATATTTATATATCATACAAAT ATATATTTATATATCATACATATATATTTATATGTCATACAAATATATAT ATTTATATGTCATACAAATATATATATTTATATGTCATACAAA	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ATP13A3_chr3_194397677_194492002	194421126	A A	ATATATAT others(414): Show ATATATATATATATATATATATATATATAGTTTATATATATATAGTTTAT ATATATATAAACTATATATATAGTATATATATAAACTATATATATAGTAT ATATATATACTATATATATAGTATATATATATACTATATATATAGTATAT ATATATACTATATATAGTTTATATATATATACTATATATATAGTTTATAT ATATATATACTATATATAGTATATATATATATAAACTATATATATAGTTT ATATATATATAAACTATATATATAGTTTATATATATATAAACTATATATA TAGTTTATATATATATAAACTATATATATAGTTTATATATATATAAACTA TATATATAGTTTATATATATATACTATATATAGTTTATATATATATACTA TATATATAGTATATATATATAC	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0279 a0001c0004t0006g0279	1	288	0.0035	421	c.331 others(440): Show c.3314-1160_3314-1159insGTATATATATATACTATATATATAGT ATATATATATAAACTATATATAGTATATATATATAAACTATATATATAGT TTATATATATATAAACTATATATATAGTTTATATATATATAAACTATATA TATAGTTTATATATATATAAACTATATATATAGTTTATATATATATAAAC TATATATATAGTTTATATATATATATACTATATATAGTATATATATATAT AAACTATATATATAGTATATATATATAAACTATATATAGTATATATATAT ACTATATATATAGTATATATATATACTATATATATAGTATATATATATAC TATATATATAGTTTATATATATACTATATATATAGTTTATATATATATAA ACTATATATATATAAACTATATATATATATATATATATATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
B3GNTL1_chr17_82937149_83056770	82971659	A A	ACAGGGGC others(414): Show ACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCCAG AAGGACCTGGTACTGACCACACCACACTCATAGGGGCCAGAAGGACCCGG TACTGACCACACCACACCACAGGGGCCAGAAGGACCCGGGTACTGACCAC ACCACACCACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACA GGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCTAGAAG GACCTGGTGCCGACCACACCACACCATGGGCCAGAAGGACCTGGTGCCGA CCACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACACACCACACC AGGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACGGGCCAGAAGG ACCTGGAGCCGACACACCACAC	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0031 a0001c0004t0031	a0001c0004t0031g0036 a0001c0004t0031g0036	1	231	0.0043	421	c.460 others(438): Show c.460-5914_460-5913insGTGTGGTGTGTCGGCTCCAGGTCCTTCT GGCCCGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGGTGTG GTGTGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCGGCA CCAGGTCCTTCTGGCCCATGGTGTGGTGTGGTCGGCACCAGGTCCTTCTA GCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGT GTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTC AGTACCCGGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCGGGT CCTTCTGGCCCCTATGAGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCC CCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
C22orf42_chr22_32144006_32164303	32145624	T T	TATATAAT others(414): Show TATATAATATAATTTATTATATTATATAATGATATATAATATAATTTATT ATATTATATAATGATATATAATATAATTTATTATATTATATAATGATATA TAATATAATTTATTATATTATATAATGATATATAATATAATTTATTATAT TATATAATGATATATAATATAATTTATTATATTATATAATGATATATAAT ATAATTTATTATATTATATAATGATATATAATATAATTTATTATATTATA TAATGATATATAATATAATTTGTTATATTATATAATGATATATAATATAA TTTGTTATATTATATAATGATATATAATATAATTTATTATATTATATAAT GATATATAATATAATTTATTATATTATATAATGATATATAATATAATTTA TTATATTATATAATGATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0018 a0002c0002t0002g0018	1	358	0.0028	421	c.39 others(432): Show c.3915_*3916insTATATATCATTATATAATATAATAAATTATATTA TATATCATTATATAATATAATAAATTATATTATATATCATTATATAATAT AATAAATTATATTATATATCATTATATAATATAACAAATTATATTATATA TCATTATATAATATAACAAATTATATTATATATCATTATATAATATAATA AATTATATTATATATCATTATATAATATAATAAATTATATTATATATCAT TATATAATATAATAAATTATATTATATATCATTATATAATATAATAAATT ATATTATATATCATTATATAATATAATAAATTATATTATATATCATTATA TAATATAATAAATTATATTATATATCATTATATAATATAATAAATTATAT TATATATCATTATATAATATAATAAATTATATTATAT	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		3381		chr22	TogoVar
CACNA1H_chr16_1148106_1226768	1204960	C C	CGATCAGT others(414): Show CGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGT GCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGGG AGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGG GAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCG GGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGC CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGTGGGGACCCAGATCAGTGCCGGGGAGGGGT GGGAGCCGCGGGTGGGGCCCCA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0319 a0002c0010t0001g0320 a0002c0010t0001g0319 a0002c0010t0001g0320	2	32	0.0625	421	c.245 others(438): Show c.2452-117_2452-116insGCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCG GGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGC CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGT GGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCG CGGGTGGGGACCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGG GCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(414): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCTCCCCCC TCCCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCTCCCCTCGCCCTCCCCTCCCCCCTCCCCTCCCTCCC CTCCCCTCCCCTCCCCTCCCTCCCCTCCTCCCCCTCCCCCTCCCCCCTCC CCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTCCCCTCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCT CCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0204 a0001c0001t0010g0204	1	12	0.0833	421	c.-45 others(442): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTC CCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCGCCCTCCCCTCCCCCCTC CCCTCCCTCCCCTCCCCTCCCCTCCCCTCCCTCCCCTCCTCCCCCTCCCC CTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTCCCCTC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCC TCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(414): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCT CCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCT CCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0200 a0001c0001t0010g0200	1	12	0.0833	421	c.-45 others(442): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCT CCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCT CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCC TCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(414): Show TTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCT TCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCC CTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCC CTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCC CTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCT CCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTC CCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCT TCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0006 a0002c0001t0002g0006	1	8	0.1250	421	c.69 others(432): Show c.6926_*6927insTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTC CTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCC CTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTC CCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTC CCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCT CCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTC CCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCC TCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP61_chr20_20047532_20365698	20357053	A A	AGTGTGAG others(414): Show AGTGTGAGGGGAGATGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGG GAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCA CACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGG AGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCACAC TGAGGGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGA GGGGGTCATACTGCGATTGGAGGTAGTCACACTGTGAAGGGTGGTAGTCA CACTGAGAGGAGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAG GTGGTCATACTGTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATAG TGTGAGGGGAGGTGGTCACACT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02723.hp2 HG03139.hp2 HG02145.hp1 HG02723.hp2 HG03139.hp2	a0018 a0021 a0023 a0018 a0021 a0023	a0018c0042 a0021c0019 a0023c0029 a0018c0042 a0021c0019 a0023c0029	a0018c0042t0003 a0021c0019t0003 a0023c0029t0003 a0018c0042t0003 a0021c0019t0003 a0023c0029t0003	a0018c0042t0003g0128 a0021c0019t0003g0120 a0023c0029t0003g0132 a0018c0042t0003g0128 a0021c0019t0003g0120 a0023c0029t0003g0132	3	222	0.0135	421	c.351 others(440): Show c.3514-3157_3514-3156insGTGTGAGGGGAGATGGTCACACTGAG GGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGT CACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGG GGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTC ACACTGAGAGGAGGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGTG AGGAGGTAGTCACACTGAGGGGAGGGGGTCATACTGCGATTGGAGGTAGT CACACTGTGAAGGGTGGTAGTCACACTGAGAGGAGGTGGTCACACTGAGG GGAAGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGGGGAAGTGGTC ACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26			chr20	TogoVar
CHMP1A_chr16_89639435_89662708	89647648	G G	GGACCCAG others(414): Show GGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAG CGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGGGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGGTCGGTGGAGAAAAGGC CGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACG TGGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACC CAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGG GGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTG GAGAAAAGGCCGCCGACGTGGA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	141	0.0071	421	c.253 others(436): Show c.253-318_253-317insTCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTG GGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTGTCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTC TCCACCGACCCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCG ACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCG CTGGGTCCCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCT CCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHRDL1_chrX_110668856_110800817	110741228	A A	ACTTCTCC others(414): Show ACTTCTCCTTTGGCTCACATCAAACTTAGAGTTGAGCCTTTCTTTCAGCT GAAGTTCATCTCCAAAACTACACCATATAAAACCAACTGCTCAGGAAGTC ACGATAGACACAGAAAAATCTTTTTCACAAATGCCAGTCTTCAAACCGAG CCTAAATAAAACAAGAAGAAGCCATGCCTTATTTTTTTCTCCTGTTCTCA ACAAACAACATATATCATGAAGTAATTGAAAATAGAAAACACCTGAACCG AGAAGTAGCTATAAGAAATACCACACCTGTAATCCCAGCACTTTGGGAGG CTGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAAC ACGGTGAAACCCCATCTCTCCTAAAAATACAAAAAATTAGCTCGGCGTGG TGGCGGGCGCCTGTAGTCCCAG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	170	0.0059	421	c.301 others(440): Show c.301+18432_301+18433insCTGGGACTACAGGCGCCCGCCACCAC GCCGAGCTAATTTTTTGTATTTTTAGGAGAGATGGGGTTTCACCGTGTTA GCCAGGATGGTCTCGATCTCTTGACCTTGTGATCCACCCGCCTCAGCCTC CCAAAGTGCTGGGATTACAGGTGTGGTATTTCTTATAGCTACTTCTCGGT TCAGGTGTTTTCTATTTTCAATTACTTCATGATATATGTTGTTTGTTGAG AACAGGAGAAAAAAATAAGGCATGGCTTCTTCTTGTTTTATTTAGGCTCG GTTTGAAGACTGGCATTTGTGAAAAAGATTTTTCTGTGTCTATCGTGACT TCCTGAGCAGTTGGTTTTATATGGTGTAGTTTTGGAGATGAACTTCAGCT GAAAGAAAGGCTCAACTCTAAGTTTGATGTGAGCCAAAGGAGAAG	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	4/11			chrX	TogoVar
CMIP_chr16_81439808_81716762	81704325	T T	TCTCCTCC others(414): Show TCTCCTCCCTGTCCCCCTTACTCTCCTCCCTGCCCCCTCACCCTCCTCCC TGCCCCCCTTACTCTCCTCCCTGCCCCTTCACCCTCCTCCCTGCTCCCCT CACCCTCTTCCCTGCCCCCTCCCCCTCCTCCCTGCCCCCTCCCCCTCCCC TACCCACTTACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCTCA CCCTCCTCTCTTTCCCCTCACCCTCCTCCCTGCCCACTCACCCTCCTCCC TGCCCCCCTTACTCTCCTCCCTGCCCCTTCACCCTCCTCCCTGCTCCCCT CACCCTCTTCCCTGCCCCCTCCCCCTCCTCCCTGCCCCCTCCCCCTCCCC TACCCACTTACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCTCA CCCTCCTCTCTTTCCCCTCACC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	253	0.0040	421	c.209 others(438): Show c.2091+250_2091+251insTCCCCCTTACTCTCCTCCCTGCCCCCTC ACCCTCCTCCCTGCCCCCCTTACTCTCCTCCCTGCCCCTTCACCCTCCTC CCTGCTCCCCTCACCCTCTTCCCTGCCCCCTCCCCCTCCTCCCTGCCCCC TCCCCCTCCCCTACCCACTTACCCTCCTCCCTGCCCCCTCACCCTCCTCC CTGCCCCCTCACCCTCCTCTCTTTCCCCTCACCCTCCTCCCTGCCCACTC ACCCTCCTCCCTGCCCCCCTTACTCTCCTCCCTGCCCCTTCACCCTCCTC CCTGCTCCCCTCACCCTCTTCCCTGCCCCCTCCCCCTCCTCCCTGCCCCC TCCCCCTCCCCTACCCACTTACCCTCCTCCCTGCCCCCTCACCCTCCTCC CTGCCCCCTCACCCTCCTCTCTTTCCCCTCACCCTCCTCCCTG	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNOT1_chr16_58514951_58634826	58586394	C C	CAGGGGGA others(414): Show CAGGGGGAGGGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGG GAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGC AGGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGG AGGGCAGGGGGAGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGACTGGA GGGGAGGGGACGGGAGGGGGGAGGGGGAGGGGAGGGGGACTGGAGGGGAG GGGAGGGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAAGG GGAGGAGAGGGAGAGGGGAAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGG GAGGGAAGGGGAGGGAAGGGGAGGGAAGGGAAGGAAGGGGAGGGGAGGGG AGGGGAAGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	189	0.0053	421	c.637 others(436): Show c.637+150_637+151insTCCCCTCCCCTCCCCTTCCCCTCCCCTCCC CTCCCCTTCCTTCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTCCC TTCCCCTTCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCCCC TCCCATCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCCTC CAGTCCCCCTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCCTCCAGTCC CCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCCCTTCC CCTCCCCCTGCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCTGCCCTCCC CTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCC CTCCCCCTGCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCCT	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT1_chr16_58514951_58634826	58586397	G G	GGGGAGGG others(414): Show GGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAG GGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGG GGGAGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGACTGGAGGGGAGGG GACGGGAGGGGGGAGGGGGAGGGGAGGGGGGACTGGAGGGGAGGGGAGGG GAAGGGGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAAGGGGAGGAG AGGGAGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGAA GGGGAGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAAGGGA AGGGGAGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGAGAGGGGAAGG GGAGGAGGGGGAGGGGAGGGCA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	263	0.0038	421	c.637 others(436): Show c.637+147_637+148insTGCCCTCCCCTCCCCCTCCTCCCCTTCCCC TCTCCTCCCCTCCCCTTCCCCTCCCCTCCCCTTCCCTCCCCTTCCCTTCC CCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCC CCTTCCCCTCCCCTTCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCC CTTCCCCTCCCATCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCC TCCCCTCCAGTCCCCCCTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCC TCCAGTCCCCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCT CCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCCT GCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT1_chr16_58514951_58634826	58586397	G G	GGGGAGGG others(414): Show GGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAG GGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGG GGGAGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGACTGGAGGGGAGGG GACGGGAGGGGGGAGGGGGAGGGGAGGGGGGACTGGAGGGGAGGGGAGGG GAAGGGGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAAGGGGAGGAG AGGGAGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGAA GGGGAGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAAGGGA AGGGGAGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAGGGGAAGG GGAGGAGGGGGAGGGGAGGGCA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00609.hp1 others(24): Show HG00423.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG01175.hp2 HG01255.hp2 HG01257.hp2 HG02027.hp2 HG02083.hp1 HG02155.hp1 HG03017.hp2 NA18944.hp1 NA18950.hp2 NA18953.hp2 NA18961.hp2 NA18971.hp2 NA18983.hp2 NA18984.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA19000.hp2 NA19002.hp1 NA19060.hp1 NA19079.hp2 NA20752.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0015 a0001c0001 a0001c0002 a0005c0015	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0005c0015t0001	a0001c0001t0001g0230 a0001c0002t0001g0002 a0001c0002t0001g0056 others(24): Show a0001c0001t0001g0230 a0001c0002t0001g0002 a0001c0002t0001g0056 a0001c0002t0001g0060 a0001c0002t0001g0064 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0079 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0001g0138 a0001c0002t0003g0065 a0001c0002t0003g0088 a0001c0002t0003g0089 a0001c0002t0003g0090 a0001c0002t0003g0091 a0001c0002t0003g0095 a0005c0015t0001g0058	27	289	0.0934	421	c.637 others(436): Show c.637+147_637+148insTGCCCTCCCCTCCCCCTCCTCCCCTTCCCC TCCCCTCCCCTCCCCTTCCCCTCCCCTCCCCTTCCCTCCCCTTCCCTTCC CCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCC CCTTCCCCTCCCCTTCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCC CTTCCCCTCCCATCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCC TCCCCTCCAGTCCCCCCTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCC TCCAGTCCCCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCT CCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCCT GCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(414): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTG GTGGTGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACAT CATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0106 a0001c0001t0019g0106	1	31	0.0323	421	c.-52 others(438): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGT TTATAACTGGTGGTGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACA ACATCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGC TCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGA GGTCAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CPNE7_chr16_89570758_89602246	89597951	T T	TCCACCCA others(414): Show TCCACCCATCCCCCCGCCCACCCATCTGTCCACCCATCCGTCCATCCATC CCCCCACCCACCCATCTGTCCACCCATCCCCCCGCCCACCCATCCGTCCA CCCACCCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCATC CACCCATCCCCCCACCCACCCATCCATCCATCCCCCCACCCACCCATCCA TCCACCCATCCCCCCCACCCACCCATCTGTCCACCCATCCCCCCACCCAC CCGTCCGTCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCC ACCCACCCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCCC CCACCCATCCGTCCACCCATCCGTCCACTCACCCATCCGTCCACTCACCC ATCTGTCCACCCATTCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	267	0.0037	421	c.13 others(432): Show c.1330_*1331insCCACCCATCCCCCCGCCCACCCATCTGTCCACCC ATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCGC CCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCC GTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCATCCCC CCACCCACCCATCCATCCACCCATCCCCCCCACCCACCCATCTGTCCACC CATCCCCCCACCCACCCGTCCGTCCATCCATCCCCCCACCCACCCATCCA TCCACCCATCCCCCCACCCACCCATCTGTCCACCCATCTGTCCACCCATC CGTCCACCCATCCCCCCACCCATCCGTCCACCCATCCGTCCACTCACCCA TCCGTCCACTCACCCATCTGTCCACCCATTCCCCCGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		706		chr16	TogoVar
CTU2_chr16_88701503_88720396	88713256	G G	GCCCCCCT others(414): Show GCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCC TTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCG GGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTG ACCCCCACTCATGCCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCA CTCATACCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCC TGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCC CCCTTCCCCAGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCC CGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTG ACCCCCACTCATACCCGAGAGC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0100 a0002c0003t0001g0100	1	414	0.0024	421	c.738 others(434): Show c.738-41_738-40insCCCTGACCCCCACTCATACCCCTGAGAGCCCC CCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCC CGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCC TGACCCCCACTCATGCCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCC CACTCATACCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACC CCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAG CCCCCTTCCCCAGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTC CCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCC TGACCCCCACTCATACCCGAGAGCCCCCCCTTCCCCGGG	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(414): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGT GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	164	0.0061	421	c.-42 others(432): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGT GAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGG GTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(414): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTC GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTT GGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	164	0.0061	421	c.-42 others(432): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGG GGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(414): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	164	0.0061	421	c.-42 others(432): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTG AGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGG TGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DECR2_chr16_396885_417482	397716	G G	GTGAGGGA others(414): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	279	0.0036	421	c.-42 others(432): Show c.-4248_-4247insTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4168		chr16	TogoVar
DGKH_chr13_42043648_42247896	42197252	C C	CAACAACA others(414): Show CAACAACAAAAAAAAATACACCATGGAATACTATGCAGCCATAAAAAATG ATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATT CTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACT CATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATA TCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCAT TGGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACCA GCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTA CCCTAAAACTTAGAGTATAATAAAAAAAAAAAATTAAAAAAAAAAATAAA AATAAAAATAAAATAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp1 HG01106.hp2 others(15): Show HG00438.hp2 HG00642.hp1 HG01106.hp2 HG01109.hp1 HG01346.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp2 HG01928.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02148.hp2 HG02698.hp2 HG04204.hp2 NA18981.hp2 NA18988.hp2 NA19085.hp1	a0001 a0007 a0001 a0007	a0001c0003 a0007c0023 a0001c0003 a0007c0023	a0001c0003t0010 a0001c0003t0038 a0001c0003t0043 others(8): Show a0001c0003t0010 a0001c0003t0038 a0001c0003t0043 a0001c0003t0044 a0001c0003t0046 a0001c0003t0110 a0001c0003t0111 a0001c0003t0115 a0001c0003t0116 a0001c0003t0124 a0007c0023t0113	a0001c0003t0010g0017 a0001c0003t0010g0197 a0001c0003t0010g0198 others(15): Show a0001c0003t0010g0017 a0001c0003t0010g0197 a0001c0003t0010g0198 a0001c0003t0010g0201 a0001c0003t0010g0279 a0001c0003t0038g0134 a0001c0003t0043g0056 a0001c0003t0043g0204 a0001c0003t0044g0177 a0001c0003t0044g0182 a0001c0003t0046g0077 a0001c0003t0046g0155 a0001c0003t0110g0080 a0001c0003t0111g0136 a0001c0003t0115g0202 a0001c0003t0116g0200 a0001c0003t0124g0236 a0007c0023t0113g0156	18	166	0.1084	421	c.216 others(440): Show c.2168-1224_2168-1223insCAACAAAAAAAAATACACCATGGAAT ACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGG ATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAAC CAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCAC ATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGG GGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACAC GTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAA CCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAA AAAATTAAAAAAAAAAATAAAAATAAAAATAAAATAAAAAAAAAA	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42197252	C C	CAACAACA others(414): Show CAACAACAAAAAAAAATACACCATGGAATACTATGCAGCCATAAAAAATG ATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATT CTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACT CATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATA TCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGGAGGGATAGCA TTGGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACC AGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGT ACCCTAAAACTTAGAGTATAATAAAAAAAAAAATTAAAAAAAAAAATAAA AATAAAAATAAAATAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0114 a0001c0003t0114	a0001c0003t0114g0029 a0001c0003t0114g0029	1	149	0.0067	421	c.216 others(440): Show c.2168-1224_2168-1223insCAACAAAAAAAAATACACCATGGAAT ACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGG ATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAAC CAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCAC ATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGG GGGAGGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACA CGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTA ACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAA AAAATTAAAAAAAAAAATAAAAATAAAAATAAAATAAAAAAAAAA	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DLGAP2_chr8_732628_1713476	1508511	T T	TGCAAACC others(414): Show TGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCCACCCCTCA CCACCCCCTGCAAACCCCCACCCCCCCCACAAACCCCCGCCACCCCCTGC AAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCACCAC CCCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCC TCACCACCCCCTGCAAACCCCCACCCCCCCCACAAACCCCCGCCACCCCC TGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCAC CACCCCCCGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCAC CCCTCACCACCCCCCGCAAACCCCCGCCACCCCCTGCAAACGCCCACCAC CCCCCACCCCTCACCACCCCCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0025 a0001c0010t0025	a0001c0010t0025g0012 a0001c0010t0025g0012	1	11	0.0909	421	c.172 others(438): Show c.172+7096_172+7097insCCCTGCAAACGCCCACCACCCCCCCACC CCTCACCACCCCCTGCAAACCCCCACCCCCCCCACAAACCCCCGCCACCC CCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTC ACCACCCCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCC ACCCCTCACCACCCCCTGCAAACCCCCACCCCCCCCACAAACCCCCGCCA CCCCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCC CTCACCACCCCCCGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCC CCCACCCCTCACCACCCCCCGCAAACCCCCGCCACCCCCTGCAAACGCCC ACCACCCCCCACCCCTCACCACCCCCCGCAAACCCCCGCCACC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH10_chr12_123757301_123940714	123908064	G G	GCTGTCTC others(414): Show GCTGTCTCCTCCCTGTCTCCCTGTCTCCTCCCTGTCTCTCTGTCTCCTCC CTGTCTCTCTGTCTCCTCCCTGTCTCTCTGTCTCCTCCCTGTCTCTCTGT CTCCTCCCTGTCTCTCTGTCTCCTCCCTGTCTCTCTGTCTCCTCCCTGTC TCCCTGTCTCCTCCCTGTCTCTCTGTCTCCTCCCTGTCTCTCTGTCTCCT CCCTGTCTCCCTGTCTCCTCCCTGTCTCTCTGTCTCCTCCCTGTCTCTCT GTCTCCTCCCTGTCTCTCTGTCTCCTCCCTGTCTCTCTGTCCCCTCCCTG TCTCCTCCCTGTCTCCCTGTCTCCTCCCTGTCTCTCTGTCTCCTCCCTGT CTCTCTGTCTCCTCCCTGTCTCTCTGTCCCCTCCCTGTCTCCTCCCTGTC TCCCTGTCTCCTCCCTGTCTCT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0036 a0036	a0036c0055 a0036c0055	a0036c0055t0002 a0036c0055t0002	a0036c0055t0002g0069 a0036c0055t0002g0069	1	80	0.0125	421	c.981 others(440): Show c.9816-1179_9816-1178insCCTGTCTCCTCCCTGTCTCTCTGTCT CCTCCCTGTCTCTCTGTCTCCTCCCTGTCTCTCTGTCTCCTCCCTGTCTC TCTGTCTCCTCCCTGTCTCTCTGTCTCCTCCCTGTCTCTCTGTCTCCTCC CTGTCTCCCTGTCTCCTCCCTGTCTCTCTGTCTCCTCCCTGTCTCTCTGT CTCCTCCCTGTCTCCCTGTCTCCTCCCTGTCTCTCTGTCTCCTCCCTGTC TCTCTGTCTCCTCCCTGTCTCTCTGTCTCCTCCCTGTCTCTCTGTCCCCT CCCTGTCTCCTCCCTGTCTCCCTGTCTCCTCCCTGTCTCTCTGTCTCCTC CCTGTCTCTCTGTCTCCTCCCTGTCTCTCTGTCCCCTCCCTGTCTCCTCC CTGTCTCCCTGTCTCCTCCCTGTCTCTCTGTCTCCTCCCTGTCTC	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	57/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DPEP1_chr16_89608642_89643433	89619210	C C	CCCTGCCC others(414): Show CCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCC TCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCC CCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAG CCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCC CTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCC CCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCA GCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCC CTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	174	0.0057	421	c.-10 others(440): Show c.-107+5493_-107+5494insTGCCCCCCCGCTCCCCTCCCTGCAGC CCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCC CTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCC CCCCTGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTGC AGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCC CCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGC AGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPYSL2_chr8_26509031_26663175	26556265	A A	ATATATAC others(414): Show ATATATACTATATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATACTATATATATAGTA TATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATA TATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGT ATATATATAGTATATATATATAGTATATATATAGTATATATATAGTATAT ATATATAGTATATATATAGTATATATATATAGTGTATATATATAGTATAT ATATATAGTGTATATATATAGTATATATATAGTATATATATAGTATATAT AGTATATATGTATATATATATAGTATATATATAGTATATATATATAGTAT ATATATAGTATATATATATAGT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0171 a0001c0010t0001g0171	1	169	0.0059	421	c.355 others(440): Show c.355-25704_355-25703insTATATACTATATATATATAGTATATA TATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGT ATATATATACTATATATATAGTATATATATATAGTATATATATAGTATAT ATATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAG TATATATATAGTATATATATAGTATATATATAGTATATATATATAGTATA TATATAGTATATATATAGTATATATATATAGTATATATATAGTATATATA TATAGTGTATATATATAGTATATATATATAGTGTATATATATAGTATATA TATAGTATATATATAGTATATATAGTATATATGTATATATATATAGTATA TATATAGTATATATATATAGTATATATATAGTATATATATATAGT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar

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