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
KCNQ2_chr20_63395208_63477655	63442897	C C	CATCACCA others(424): Show CATCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCA TCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCATC ACCATCACCACCATCACCATCACCACCACCATCACATCAACACCATGACC ACCATCACCACCACCAAAACCATCACCACCACCATCACCACCACCACCAC CACCACCATCACTATCACCACCATCACCATCACCACCACCACCACCACCA CCATCACCATCACCACCATCACCACCATCACCATCACCACCACCACCACC ATCACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCAC CATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCA CCACCATCACCATCACCACCACCATCACCATT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02886.hp2 HG02055.hp1 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0087 a0001c0002t0023 a0001c0002t0087	a0001c0002t0023g0026 a0001c0002t0087g0104 a0001c0002t0023g0026 a0001c0002t0087g0104	2	330	0.0061	431	c.691 others(446): Show c.691-367_691-366insAATGGTGATGGTGGTGGTGATGGTGATGGT GGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTAATGGTGGTGGTAA TGGTGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGATGGTGGTG ATGGTGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGGTGATGGTGAT GGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGATAGTGATGGTGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTTTTGGTGGTGGTGATG GTGGTCATGGTGTTGATGTGATGGTGGTGGTGATGGTGATGGTGGTGATG GTGATGGTAATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGATGGT GATGGTGGTGGTGATGGTGATGGTGGTGATGGTGATGGTGGTGGTGGTGA T	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KIF25_chr6_167992671_168050091	168035461	C C	CGGGGGGG others(424): Show CGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTG CGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTG CGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGGCGGGAACGGCGC TGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACG GCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCG CTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGC GGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTG CGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGG CGCTGCGGGGTGGGGGCGGGAACGGCGCTGCG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0016 a0006c0008t0016	a0006c0008t0016g0167 a0006c0008t0016g0167	1	375	0.0027	431	c.317 others(448): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGGCGGGAACG GCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGG AACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAAC GGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCG CTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGC GCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGA ACGGCGCTGCGGGGTGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAA CGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(424): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGGTCAG GGAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGA AGAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGGAGG GGGGAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGAT GAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGA GGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAG GGGGGAGGAGGGGGAGGAGGGCAGGAGGAGGGGGGAGGGGGAGGAGGAGG AAGAGGAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	316	0.0032	431	c.583 others(446): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCC CCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCT CCTCCTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCC TCATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCC CCCCTCCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCT CTTCCTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCT CCCTGACCCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTC TCCTCCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCT C	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(424): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAA GAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGA GGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAG GGGGAGGAGGCGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGG AAGAGGAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0132 a0007c0010t0001g0132	1	316	0.0032	431	c.583 others(446): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCGCCTCCTCC CCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCT CCTCCTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCC TCTTCATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTC TCCCCCTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCC TCTTCCTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATC TCCCTGACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTC TCCTCCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCT C	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(424): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAA GAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGA GGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAG GGGGGAGGGGAGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGG AAGAGGAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	316	0.0032	431	c.583 others(446): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCTCCCCTCCC CCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCT CCTCCTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCC TCTTCATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTC TCCCCCTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCC TCTTCCTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATC TCCCTGACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTC TCCTCCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCT C	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(424): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAA GAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGA GGAGAAAATGAGGAAGAGGAGGAGGGGGGAGGAGGAGGAGGAGGGGAGGA GGGGGAGGAGGGGGAGGAGGGCAGGAGGAGGGGGGAGGGGGAGGAGGAGG AAGAGGAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	316	0.0032	431	c.583 others(446): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCC CCTCCTCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCTTCCTCATTTTCT CCTCCTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCC TCTTCATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTC TCCCCCTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCC TCTTCCTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATC TCCCTGACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTC TCCTCCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCT C	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(424): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAA GAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGA GGAGAAAATGAGGAAGAGGAGGAGGGGGGAGGAGGAGGAGGAGGGGAGGA GGGGGAGGAGGGGGAGGAGGGCAGGGAGGAGGGGGAGGGGGAGGAGGAGG AAGAGGAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	316	0.0032	431	c.583 others(446): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCCTGCCCTCCTCCCCCTCCTCCC CCTCCTCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCTTCCTCATTTTCT CCTCCTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCC TCTTCATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTC TCCCCCTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCC TCTTCCTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATC TCCCTGACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTC TCCTCCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCT C	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(424): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GAGAGGGAGAGGGAGGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGA AGAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGG AGGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGA GGGGGAGGAGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGGAGGAGGAGG AAGAGGAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	316	0.0032	431	c.583 others(446): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCC CCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTC CTCCTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCT CTTCATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCCTCCCTCTCCCTC TCCCCCTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCC TCTTCCTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATC TCCCTGACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTC TCCTCCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCT C	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(424): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGGA GGAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAG GGAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGA AGAGGAAGAAGGAGGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGG GGGAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATG AAGAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAG GAGGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGG AGGGGGAGGAGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGG AAGAGGAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	316	0.0032	431	c.583 others(446): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCC CTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCC TCCTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTC TTCATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTC CCCCTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCCTCCTTCTTCCT CTTCCTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCT CCCTGACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCT CCTCCCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCT C	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
LAMA2_chr6_128878138_129521566	129385145	G G	GAGAAGGA others(424): Show GAGAAGGATGAAGGGAGGAAGGAAGGAAGGGGAAGGAAGGAGGAAGGGAG GGAGGGAAGGAGGGAAGAAGGGAGGAAGGGAAGGAGGGAAGGTGGAAGGA AGGAAGGAAGGAAGGAAAAGAAGGAAGGAAGGAGGGAGGGAAGCAGGAAG GAAGGAGGGAGAGGAAGGAACAGAAAGGAAAAAAAGGGGAGGGAGGAAGG AAGGAACAAAGGAAGGAAGAAAGAAAGAAAGGAGGGAGGGAGGGAGGAAG GAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAA GGAAGGAAGAAAGGAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGG AGGGAGGGAGGGAGGGAGGAAGGAAGGAAGAAAGGGCAGAAGGAAGGAAG GGGGAAGGGAGGGAAGAAAGGAAGGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02809.hp2 HG02572.hp2 HG02809.hp2	a0003 a0025 a0003 a0025	a0003c0044 a0025c0057 a0003c0044 a0025c0057	a0003c0044t0003 a0025c0057t0003 a0003c0044t0003 a0025c0057t0003	a0003c0044t0003g0020 a0025c0057t0003g0043 a0003c0044t0003g0020 a0025c0057t0003g0043	2	88	0.0227	431	c.507 others(450): Show c.5071+1912_5071+1913insAGAAGGATGAAGGGAGGAAGGAAGGA AGGGGAAGGAAGGAGGAAGGGAGGGAGGGAAGGAGGGAAGAAGGGAGGAA GGGAAGGAGGGAAGGTGGAAGGAAGGAAGGAAGGAAGGAAAAGAAGGAAG GAAGGAGGGAGGGAAGCAGGAAGGAAGGAGGGAGAGGAAGGAACAGAAAG GAAAAAAAGGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAG AAAGGAGGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAA GGAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGAAAGGAAGGAAGGAGGGA GGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGGAGGGAGGAAGGAAGG AAGAAAGGGCAGAAGGAAGGAAGGGGGAAGGGAGGGAAGAAAGGAAGGGA AAGGA	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	35/64			chr6	TogoVar
LAMA5_chr20_62304065_62372312	62360602	G G	GTGGGTGG others(424): Show GTGGGTGGGTGGATGGATAGGTGGATGGGTGGGTGGAGGGATAGATGGGT GGGTGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGAGGAATAGATGG GTGGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGAG GGATAGATGGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGG GTGGGTGGATGGATAGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGT GGGTGGGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGGATAGATGG GGGGGTGGGTGGGTGGAGGGATAGATGGGTGGTGGGTGGGTGGAGGGATA GATGGGTGGGTGGGTGGGTGGAGGGATAGGTAGGTGGGTGGGTGGGTGGA TGGATAGGTGGGTGGGTGGGTGGAGGAATAGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0018 a0018	a0018c0115 a0018c0115	a0018c0115t0001 a0018c0115t0001	a0018c0115t0001g0081 a0018c0115t0001g0081	1	186	0.0054	431	c.450 others(448): Show c.450+1797_450+1798insTCTATTCCTCCACCCACCCACCCACCTA TCCATCCACCCACCCACCCACCTACCTATCCCTCCACCCACCCACCCACC CATCTATCCCTCCACCCACCCACCACCCATCTATCCCTCCACCCACCCAC CCCCCCATCTATCCCTCCACCCACCCACCCACCTATCCATCCACCCACCC ACCCACCCACCCATCTATCCCTCCACCCACCCATCCACCTATCCATCCAC CCACCCACCCACCCACCCATCTATCCCTCCACCCACCCATCCACCCATCT ATCCCTCCACCCACCCACCCACCCATCTATCCCTCCACCCACCCATCCAC CCACCCATCTATTCCTCCACCCACCCACCCATCTATCCCTCCACCCACCC ACCCACCCATCTATCCCTCCACCCACCCATCCACCTATCCATCCACCCAC CCA	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LRP1_chr12_57123483_57218361	57191928	T T	TACCACAC others(424): Show TACCACACACACTACACACCCCACACACACACCACATACACACACCACAC ACACACCACACCACATACACACACCACACACACACCACAAAACATACACA CATTCCCCACACACACACCATACATACCACATACGCACACCACCGCACAC ACAATACATACACCACATAGCACACACACTGCAGCACACACGAGACACAC ACCACACCATACAACACACCACACACACCACACAGGACATGTACACCACA CACACAACCAACACACATCACATGCACACACACATACACACACCACACAT ACTATACCACATACACATGCAGTACACACACCACACCACACACACACCAC ATACACAGATACCACACACACTGCAGCACACACAAGACACACACCACACC ATGCAACACACCACACACACACCACGCAACAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA19043.hp2 HG03209.hp1 NA19043.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0009 a0001c0024t0001 a0001c0024t0009	a0001c0024t0001g0033 a0001c0024t0009g0097 a0001c0024t0001g0033 a0001c0024t0009g0097	2	276	0.0073	431	c.742 others(448): Show c.7429+427_7429+428insTACACACCCCACACACACACCACATACA CACACCACACACACACCACACCACATACACACACCACACACACACCACAA AACATACACACATTCCCCACACACACACCATACATACCACATACGCACAC CACCGCACACACAATACATACACCACATAGCACACACACTGCAGCACACA CGAGACACACACCACACCATACAACACACCACACACACCACACAGGACAT GTACACCACACACACAACCAACACACATCACATGCACACACACATACACA CACCACACATACTATACCACATACACATGCAGTACACACACCACACCACA CACACACCACATACACAGATACCACACACACTGCAGCACACACAAGACAC ACACCACACCATGCAACACACCACACACACACCACGCAACACACCACACA CAC	LRP1	ENSG00000123384.14	transcript	ENST00000243077.8	protein_coding	44/88		INFO_REALIGN_3_PRIME	chr12	TogoVar
LRP1_chr12_57123483_57218361	57191928	T T	TACCACAC others(424): Show TACCACACACACTACACACCCCACACACACACCACATACACACACCACAC ACACACCACACCACATACACACACCACACACACACCACAAAACATACACA CATTCCCCACACACACACCATACATACCACATACGCACACCACCGCACAC ACAATACATACACCACATAGCACACACACTGCAGCACACACGAGATACAC ACCACACCATACAACACACCACACACACCACACAGGACATGTACACCACA CACACAACCAACACACATCACATGCACACACACATACACACACCACACAT ACTATACCACATACACATGCAGTACACACACCACACCACACACACACCAC ATACACAGATACCACACACACTGCAGCACACACAAGACACACACCACACC ATGCAACACACCACACACACACCACGCAACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00423.hp2 others(104): Show HG00140.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00741.hp1 HG00741.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01891.hp2 HG01928.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp2 HG02027.hp2 HG02071.hp1 HG02132.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02698.hp2 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03492.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp2 NA18953.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18963.hp1 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp1 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA19004.hp2 NA19011.hp1 NA19054.hp2 NA19055.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19074.hp1 NA19079.hp1 NA19085.hp1 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA21309.hp1	a0001 a0004 a0005 others(4): Show a0001 a0004 a0005 a0006 a0011 a0015 a0016	a0001c0002 a0001c0004 a0001c0008 others(20): Show a0001c0002 a0001c0004 a0001c0008 a0001c0012 a0001c0013 a0001c0016 a0001c0017 a0001c0018 a0001c0021 a0001c0022 a0001c0037 a0001c0042 a0001c0057 a0001c0058 a0001c0060 a0001c0069 a0001c0070 a0004c0019 a0005c0020 a0006c0034 a0011c0040 a0015c0038 a0016c0039	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(26): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0004t0001 a0001c0004t0007 a0001c0008t0001 a0001c0008t0013 a0001c0012t0001 a0001c0013t0001 a0001c0016t0001 a0001c0017t0004 a0001c0017t0006 a0001c0018t0005 a0001c0021t0012 a0001c0022t0001 a0001c0037t0001 a0001c0042t0001 a0001c0057t0010 a0001c0058t0003 a0001c0060t0009 a0001c0069t0007 a0001c0070t0001 a0004c0019t0001 a0005c0020t0002 a0006c0034t0007 a0011c0040t0007 a0015c0038t0001 a0016c0039t0002	a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0057 others(101): Show a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0057 a0001c0002t0001g0061 a0001c0002t0001g0068 a0001c0002t0001g0074 a0001c0002t0001g0091 a0001c0002t0001g0094 a0001c0002t0001g0098 a0001c0002t0001g0102 a0001c0002t0001g0117 a0001c0002t0001g0119 a0001c0002t0001g0127 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0135 a0001c0002t0001g0141 a0001c0002t0001g0148 a0001c0002t0001g0156 a0001c0002t0001g0160 a0001c0002t0001g0164 a0001c0002t0001g0167 a0001c0002t0001g0177 a0001c0002t0001g0183 a0001c0002t0001g0191 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0196 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0221 a0001c0002t0001g0223 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0235 a0001c0002t0001g0237 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0246 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0261 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0002g0007 a0001c0002t0002g0114 a0001c0002t0004g0256 a0001c0002t0008g0139 a0001c0002t0008g0157 a0001c0002t0008g0170 a0001c0004t0001g0017 a0001c0004t0001g0018 a0001c0004t0001g0019 a0001c0004t0001g0021 a0001c0004t0001g0099 a0001c0004t0001g0100 a0001c0004t0001g0115 a0001c0004t0001g0116 a0001c0004t0001g0219 a0001c0004t0007g0015 a0001c0008t0001g0001 a0001c0008t0001g0155 a0001c0008t0001g0172 a0001c0008t0013g0111 a0001c0012t0001g0072 a0001c0012t0001g0208 a0001c0012t0001g0209 a0001c0012t0001g0212 a0001c0013t0001g0118 a0001c0013t0001g0120 a0001c0013t0001g0240 a0001c0016t0001g0143 a0001c0017t0004g0124 a0001c0017t0006g0123 a0001c0017t0006g0126 a0001c0018t0005g0129 a0001c0018t0005g0131 a0001c0021t0012g0011 a0001c0021t0012g0012 a0001c0022t0001g0149 a0001c0022t0001g0260 a0001c0037t0001g0211 a0001c0042t0001g0173 a0001c0057t0010g0190 a0001c0058t0003g0048 a0001c0060t0009g0189 a0001c0069t0007g0020 a0001c0070t0001g0040 a0004c0019t0001g0163 a0004c0019t0001g0174 a0005c0020t0002g0052 a0005c0020t0002g0108 a0006c0034t0007g0037 a0011c0040t0007g0239 a0015c0038t0001g0262 a0016c0039t0002g0234	107	276	0.3877	431	c.742 others(448): Show c.7429+427_7429+428insTACACACCCCACACACACACCACATACA CACACCACACACACACCACACCACATACACACACCACACACACACCACAA AACATACACACATTCCCCACACACACACCATACATACCACATACGCACAC CACCGCACACACAATACATACACCACATAGCACACACACTGCAGCACACA CGAGATACACACCACACCATACAACACACCACACACACCACACAGGACAT GTACACCACACACACAACCAACACACATCACATGCACACACACATACACA CACCACACATACTATACCACATACACATGCAGTACACACACCACACCACA CACACACCACATACACAGATACCACACACACTGCAGCACACACAAGACAC ACACCACACCATGCAACACACCACACACACACCACGCAACACACCACACA CAC	LRP1	ENSG00000123384.14	transcript	ENST00000243077.8	protein_coding	44/88		INFO_REALIGN_3_PRIME	chr12	TogoVar
LRP1_chr12_57123483_57218361	57191928	T T	TACCACAC others(424): Show TACCACACACACTACACACCCCACACACACACCACATACACACACCACAC ACACACCACACCACATACACACACCACACACACACCACAAAACATACACA CATTCCCCACACACACACCATACATACCACATACGCACACCACCGCACAC ACAATACATACACCACATAGCACACACACTGCAGCACACACGAGATACAC ACCACACCATACAACACACCACACACACCACACAGGACATGTACACCACA CACACAACCAACACACATCACATGCACACACACATACACACACCACACAT ACTATACCACATACACATGCAGTACACACACCACACCACACACACACCAC ATACACAGATACCACACACACTGCAGCACACACAAGACACACACCACACC ATGTAACACACCACACACACACCACGCAACAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02717.hp2 HG02895.hp1 others(3): Show HG02615.hp2 HG02717.hp2 HG02895.hp1 HG03516.hp1 NA19043.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0030 a0001c0035 a0001c0041 others(2): Show a0001c0030 a0001c0035 a0001c0041 a0002c0026 a0002c0059	a0001c0030t0003 a0001c0035t0002 a0001c0041t0005 others(3): Show a0001c0030t0003 a0001c0035t0002 a0001c0041t0005 a0002c0026t0001 a0002c0026t0003 a0002c0059t0001	a0001c0030t0003g0010 a0001c0035t0002g0089 a0001c0041t0005g0034 others(3): Show a0001c0030t0003g0010 a0001c0035t0002g0089 a0001c0041t0005g0034 a0002c0026t0001g0008 a0002c0026t0003g0085 a0002c0059t0001g0218	6	276	0.0217	431	c.742 others(448): Show c.7429+427_7429+428insTACACACCCCACACACACACCACATACA CACACCACACACACACCACACCACATACACACACCACACACACACCACAA AACATACACACATTCCCCACACACACACCATACATACCACATACGCACAC CACCGCACACACAATACATACACCACATAGCACACACACTGCAGCACACA CGAGATACACACCACACCATACAACACACCACACACACCACACAGGACAT GTACACCACACACACAACCAACACACATCACATGCACACACACATACACA CACCACACATACTATACCACATACACATGCAGTACACACACCACACCACA CACACACCACATACACAGATACCACACACACTGCAGCACACACAAGACAC ACACCACACCATGTAACACACCACACACACACCACGCAACACACCACACA CAC	LRP1	ENSG00000123384.14	transcript	ENST00000243077.8	protein_coding	44/88		INFO_REALIGN_3_PRIME	chr12	TogoVar
LRP1_chr12_57123483_57218361	57191928	T T	TACCACAC others(424): Show TACCACACACACTACACACCCCACACACACACCACATACACACACCACAC ACACACCACACCACATACACACACCACACACACACCACAAAACATACACA CATTCCCCACACACACACCATACATACCACATACGCACACCACCGCACAC ACAATACATACACCACATAGCACATACACTGCAGCACACACGAGATACAC ACCACACCATACAACACACCACACACACCACACAGGACATGTACACCACA CACACAACCAACACACATCACATGCACACACACATACACACACCACACAT ACTATACCACATACACATGCAGTACACACACCACACCACACACACACCAC ATACACAGATACCACACACACTGCAGCACACACAAGACACACACCACACC ATGCAACACACCACACACACACCACGCAACAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02071.hp2 HG02129.hp1 others(4): Show HG00544.hp2 HG02071.hp2 HG02129.hp1 HG02523.hp1 HG03927.hp1 NA18967.hp2 NA19011.hp2	a0001 a0001	a0001c0014 a0001c0027 a0001c0031 others(1): Show a0001c0014 a0001c0027 a0001c0031 a0001c0055	a0001c0014t0005 a0001c0014t0009 a0001c0027t0005 others(2): Show a0001c0014t0005 a0001c0014t0009 a0001c0027t0005 a0001c0031t0005 a0001c0055t0005	a0001c0014t0005g0206 a0001c0014t0005g0225 a0001c0014t0009g0224 others(4): Show a0001c0014t0005g0206 a0001c0014t0005g0225 a0001c0014t0009g0224 a0001c0027t0005g0023 a0001c0027t0005g0030 a0001c0031t0005g0063 a0001c0055t0005g0222	7	276	0.0254	431	c.742 others(448): Show c.7429+427_7429+428insTACACACCCCACACACACACCACATACA CACACCACACACACACCACACCACATACACACACCACACACACACCACAA AACATACACACATTCCCCACACACACACCATACATACCACATACGCACAC CACCGCACACACAATACATACACCACATAGCACATACACTGCAGCACACA CGAGATACACACCACACCATACAACACACCACACACACCACACAGGACAT GTACACCACACACACAACCAACACACATCACATGCACACACACATACACA CACCACACATACTATACCACATACACATGCAGTACACACACCACACCACA CACACACCACATACACAGATACCACACACACTGCAGCACACACAAGACAC ACACCACACCATGCAACACACCACACACACACCACGCAACACACCACACA CAC	LRP1	ENSG00000123384.14	transcript	ENST00000243077.8	protein_coding	44/88		INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRC14_chr8_144512992_144530172	144513832	A A	AGGAGGGG others(424): Show AGGAGGGGGTCGGCGGGGGCAGGTGGGGAGTGAGGAGGGGTCGGCCTGGG CGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGATGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGCGTGGGCGGGTGGGGG GAGTGAGGAGGGGTACGGCTGTGGGCGGTGGGGAGTGAGGATGGGGTCGG CGTGGGCGGGGGGGGAGTGAGGAGGGGTCGGCGTGTGGCGGTGGGGAGAG AGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	1	414	0.0024	431	c.-43 others(442): Show c.-4321_-4320insGGAGGGGGTCGGCGGGGGCAGGTGGGGAGTGAGG AGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGATGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGC GTGGGCGGGTGGGGGGAGTGAGGAGGGGTACGGCTGTGGGCGGTGGGGAG TGAGGATGGGGTCGGCGTGGGCGGGGGGGGAGTGAGGAGGGGTCGGCGTG TGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAG	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4159		chr8	TogoVar
LRRC23_chr12_6899822_6919229	6909135	T T	TATATAAT others(424): Show TATATAATATATAATATATAATATATATTTATTAATAATATATATAATAT ATATATTTATTTATATATATATTATTATATGTATATAAATATATATATTT ATTAATATATATAAATATATATATTTATTAATAATATATATAATATATAT ATAATATATAATATATAATATATAATATATATTTATATATAATATATAAT ATATAATATATAATATATATTTATATATAATATATAATATATAATATATA ATATATAATATATATTATATATAATATATTATATATAATATATTATATAT AATTATATATAATATATAATTATATATTATATATAATTATATAATATATA ATATATATATTATTATATATATAATAATATATATATAATATATAATTATA CATAATATATAATATATAATTATAATATATAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0160 a0002c0002t0002g0160	1	316	0.0032	431	c.622 others(446): Show c.622-755_622-754insATATAATATATAATATATAATATATATTTA TTAATAATATATATAATATATATATTTATTTATATATATATTATTATATG TATATAAATATATATATTTATTAATATATATAAATATATATATTTATTAA TAATATATATAATATATATATAATATATAATATATAATATATAATATATA TTTATATATAATATATAATATATAATATATAATATATATTTATATATAAT ATATAATATATAATATATAATATATAATATATATTATATATAATATATTA TATATAATATATTATATATAATTATATATAATATATAATTATATATTATA TATAATTATATAATATATAATATATATATTATTATATATATAATAATATA TATATAATATATAATTATACATAATATATAATATATAATTATAATATATA A	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7			chr12	TogoVar
MAP3K15_chrX_19355059_19520508	19478005	G G	GGAGAGAG others(424): Show GGAGAGAGGGGGGAGATGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGAGA GGGGGAGAGGGGGGAGAGAGGTGGGGGAGAGGGGGGAGAGAGGTGGGGGA GAGGGGGGAGAGAGGTGGGGGAGAGGGGGGAGAGAGGGGGGAGGGGGAGA GAGGGGGAGGGGGAGAGAGGGGGAGGGGGGAGAGGGGGGAGGGAGGGAGG GGGAGGGGGGGATGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGG AGGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGGAGGGGGGAGGG GGGGAGGGGGGGGAGGGGGAGAGGGGGGAGGGGGGGAGGGGGAGAGGGGG GAGGGGGGGAGGGGGAGAGGGGGGAGGGGGGGAGGGGGGAGGGGGGGAGG GGAAGGGGGGAGGGGGGAGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0014 a0002c0003t0014	a0002c0003t0014g0022 a0002c0003t0014g0022	1	163	0.0061	431	c.525 others(448): Show c.525+8476_525+8477insTCCCCCCTCCCCCCTCCCCCCTCCCCCC TTCCCCTCCCCCCCTCCCCCCTCCCCCCCTCCCCCCTCTCCCCCTCCCCC CCTCCCCCCTCTCCCCCTCCCCCCCTCCCCCCTCTCCCCCTCCCCCCCCT CCCCCCCTCCCCCCTCCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCC CCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCATCCCCCCC TCCCCCTCCCTCCCTCCCCCCTCTCCCCCCTCCCCCTCTCTCCCCCTCCC CCTCTCTCCCCCTCCCCCCTCTCTCCCCCCTCTCCCCCACCTCTCTCCCC CCTCTCCCCCACCTCTCTCCCCCCTCTCCCCCACCTCTCTCCCCCCTCTC CCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCATCTCCCCCCTCT CTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAPKAP1_chr9_125432394_125712208	125458888	G G	GCGGGGTG others(424): Show GCGGGGTGCTGACCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGTGGCTGGCCGGGCGGGGTGCTGACCCCCCCACCTCCCT CCCGGACGGGGTGGCTGGCCAGGCGGGGGGCTGACGCCCCCACCTCCCTC CCGGATGGGGCGGCTGGCCTGGCGGGGGACTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0203 a0001c0002t0001g0203	1	300	0.0033	431	c.134 others(450): Show c.1345+9083_1345+9084insTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCAGGCCAGCCGCCCC ATCCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCTGGCCAGCCACCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCACCCCGCCCGGCCAGCCACCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCATCTGGGAGGGAGGTGGGGGGGGTC AGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGTCAGCA CCCCG	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	10/11			chr9	TogoVar
METRNL_chr17_83074609_83100122	83090409	C C	CCCCGCCC others(424): Show CCCCGCCCCAGGGTGGGAGCCACACACACACACCCCCACCCCCCGCCCCA GGGTGGGAGCCACACACACACACCCCCCACCCCCCGCCCCAGGGTGGGAG CCACACACACACACCCCCACCCCCCGCCCCAGGGTGGGAGCCACACACAC ACACCCCCCACCCCCCGCCCCAGGGTGGGAGCCACACACACACACCCCCA CCCCCCGCCCCAGGGTGGGAGCCACACACACACACCCCCACCCCCCGCCC CAGGGTGGGAGCCACACACACACACCCCCCACCCCCCGCCCCAGGGTGGG AGCCACACACACACACCCCCACCCCCCGCCCCAGGGTGGGAGCCACACAC ACACACCCCCCACCCCCCGCCCCAGGGTGGGAGCCACACACACACACCCC CACCCCCCGCCCCAGGGTGGGAGCCACACACA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	399	0.0025	431	c.557 others(448): Show c.557-2757_557-2756insCCGCCCCAGGGTGGGAGCCACACACACA CACCCCCACCCCCCGCCCCAGGGTGGGAGCCACACACACACACCCCCCAC CCCCCGCCCCAGGGTGGGAGCCACACACACACACCCCCACCCCCCGCCCC AGGGTGGGAGCCACACACACACACCCCCCACCCCCCGCCCCAGGGTGGGA GCCACACACACACACCCCCACCCCCCGCCCCAGGGTGGGAGCCACACACA CACACCCCCACCCCCCGCCCCAGGGTGGGAGCCACACACACACACCCCCC ACCCCCCGCCCCAGGGTGGGAGCCACACACACACACCCCCACCCCCCGCC CCAGGGTGGGAGCCACACACACACACCCCCCACCCCCCGCCCCAGGGTGG GAGCCACACACACACACCCCCACCCCCCGCCCCAGGGTGGGAGCCACACA CAC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
METTL25B_chr1_156723469_156741960	156735555	A A	AATAGGCA others(424): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCAGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0194 a0001c0001t0004g0194	1	390	0.0026	431	c.112 others(448): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATATATAT ATA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735555	A A	AATAGGCA others(424): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0200 a0001c0001t0004g0200	1	390	0.0026	431	c.112 others(448): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATATATAT ATA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735555	A A	AATAGGCA others(424): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0209 a0001c0001t0004g0209	1	390	0.0026	431	c.112 others(448): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAATATATATATAT ATA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735557	A A	ATAGGCAG others(424): Show ATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGCT GAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCCT GCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATATA TTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCATC CTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAAAATTAG CTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGATT GTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18942.hp2 HG02074.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0143 a0001c0001t0004g0237 a0001c0001t0004g0143 a0001c0001t0004g0237	2	390	0.0051	431	c.112 others(448): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATA TAT	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7			chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735557	A A	ATAGGCAG others(424): Show ATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGCT GAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCCT GCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATATA TTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCATC CTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAAAATTAG CTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGATT GTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAAA AAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0238 a0001c0001t0004g0238	1	390	0.0026	431	c.112 others(448): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAATATATATA TAT	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7			chr1	TogoVar
MINAR1_chr15_79427336_79477304	79438391	G G	GTGTGGGG others(424): Show GTGTGGGGTGTGGGGTGGATAGTGGGTGGGTGTGGGTGGGGTGGGCAGTG AGTGTGTGGGGTGTGGGGTGGGTAGTGAGTGTGTGGGGTGTGGGGTGGGT AGTGAGTGTGTGGGGTGTGGGGTGGATAGTGGGTGGGTGTGGGTGGGGTG GGCAGTGAGTGTGTGGGGTGTGGGGTGGGTAGTGAGTGTGTGGGGTGTGG GGTGGGTAGTGAGTGTGTGGGGTGTGGGGTGGGTAGTGAGTGTGTGGGGT GTGGGGTGGGTAGTGAGTGTGTGGGTGTGGGTGGGGTGGGCAGTGAGTGT GTGGGGTGTGGGGTGGATAGTGGGTGGGTGTGGGTGGGGTGGGCAGTGAG TGTGTGGGGTGTGGGGTGGGTAGTGAGTGTGTGGGGTGTGGGGTGGGTAG TGAGTGTGTGGGGTGTGGGGTGGATAGTGGGT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0005 a0004c0009t0005	a0004c0009t0005g0221 a0004c0009t0005g0221	1	390	0.0026	431	c.-51 others(448): Show c.-51+5851_-51+5852insTGTGGGGTGTGGGGTGGATAGTGGGTGG GTGTGGGTGGGGTGGGCAGTGAGTGTGTGGGGTGTGGGGTGGGTAGTGAG TGTGTGGGGTGTGGGGTGGGTAGTGAGTGTGTGGGGTGTGGGGTGGATAG TGGGTGGGTGTGGGTGGGGTGGGCAGTGAGTGTGTGGGGTGTGGGGTGGG TAGTGAGTGTGTGGGGTGTGGGGTGGGTAGTGAGTGTGTGGGGTGTGGGG TGGGTAGTGAGTGTGTGGGGTGTGGGGTGGGTAGTGAGTGTGTGGGTGTG GGTGGGGTGGGCAGTGAGTGTGTGGGGTGTGGGGTGGATAGTGGGTGGGT GTGGGTGGGGTGGGCAGTGAGTGTGTGGGGTGTGGGGTGGGTAGTGAGTG TGTGGGGTGTGGGGTGGGTAGTGAGTGTGTGGGGTGTGGGGTGGATAGTG GGT	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3			chr15	TogoVar
MMACHC_chr1_45495300_45518382	45497643	C C	CGCCACCC others(424): Show CGCCACCCCCGTCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCCATCG TCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAG GAGCATCTCTGCCCGGCCGCCATCCCATCTGGGAAGTGAGGAGCGCCTCT TCCCGGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGC CCATCGTCTGGGATGTGGGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAA AGTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATCTGGGAAGTGACGAGC GCCTCTGCCCGGCCGCCACCCCCGTCTGGGAGGTGAGGAGCGTCTCTGCC CGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCCGCCCGGCAGCCGCCCC GTATGAGAAGTGAGGAGCCTCTCCGCCCGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA19012.hp1 NA19083.hp2 NA18985.hp2 NA19012.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0025 a0001c0002t0001 a0001c0002t0005 a0001c0001t0025 a0001c0002t0001 a0001c0002t0005	a0001c0001t0025g0081 a0001c0002t0001g0057 a0001c0002t0005g0053 a0001c0001t0025g0081 a0001c0002t0001g0057 a0001c0002t0005g0053	3	386	0.0078	431	c.-26 others(442): Show c.-2690_-2689insGCCACCCCCGTCTGGGAAGTGAGGAGCGTCTCTG CCTGGCCGCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCC AGTCTGGAAAGTGAGGAGCATCTCTGCCCGGCCGCCATCCCATCTGGGAA GTGAGGAGCGCCTCTTCCCGGCCGCCATCACATCTAGGAAGTGAGGAGCG TCTCTGCCCGGCCGCCCATCGTCTGGGATGTGGGGAGCCCCTCTGCCTGG CTGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATC TGGGAAGTGACGAGCGCCTCTGCCCGGCCGCCACCCCCGTCTGGGAGGTG AGGAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCCG CCCGGCAGCCGCCCCGTATGAGAAGTGAGGAGCCTCTCCGCCCGGCA	MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding		2656		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735555	A A	AATAGGCA others(424): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCAGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	364	0.0028	431	c.18 others(442): Show c.1842_*1843insATATATATATTTTTTTTTTTTTTTTTTTTTTTTT TTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCACAAT CTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACGCCATTCTCCTGCCT CAGCCTCCTGAGTAGCTGGGACTACAGGTACTCGCCACCACGCCCAGCTA ATTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACCATGTTCACCAGGAT GGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTCGGCATCCCAAATAT ATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGCTGGAGAGCAGCAGG GCAATCATAGCTCACTGTAGCCTCAAACACCTCAATCCTCCCACCTCAGC CTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCATGCCTGCCTAT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1747		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735555	A A	AATAGGCA others(424): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	364	0.0028	431	c.18 others(442): Show c.1842_*1843insATATATATATTTTTTTTTTTTTTTTTTTTTTTTT TTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCACAAT CTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCCACCACGCCCAGCTA ATTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACCATGTTCACCAGGAT GGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTCGGCATCCCAAATAT ATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGCTGGAGAGCAGCAGG GCAATCATAGCTCACTGTAGCCTCAAACACCTCAATCCTCCCACCTCAGC CTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCATGCCTGCCTAT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1747		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735555	A A	AATAGGCA others(424): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	364	0.0028	431	c.18 others(442): Show c.1842_*1843insATATATATATATATTTTTTTTTTTTTTTTTTTTT TTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCACAAT CTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCCACCACGCCCAGCTA ATTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACCATGTTCACCAGGAT GGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTCGGCATCCCAAATAT ATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGCTGGAGAGCAGCAGG GCAATCATAGCTCACTGTAGCCTCAAACACCTCAATCCTCCCACCTCAGC CTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCATGCCTGCCTAT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1747		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735557	A A	ATAGGCAG others(424): Show ATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGCT GAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCCT GCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATATA TTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCATC CTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAAAATTAG CTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGATT GTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 NA18942.hp1 HG02074.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0015 a0001c0001t0003g0004 a0001c0001t0003g0015	2	364	0.0055	431	c.18 others(442): Show c.1840_*1841insATATATATATTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCACAA TCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCCACCACGCCCAGCT AATTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACCATGTTCACCAGGA TGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTCGGCATCCCAAATA TATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGCTGGAGAGCAGCAG GGCAATCATAGCTCACTGTAGCCTCAAACACCTCAATCCTCCCACCTCAG CCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCATGCCTGCCTA	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1745		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735557	A A	ATAGGCAG others(424): Show ATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGCT GAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCCT GCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATATA TTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCATC CTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAAAATTAG CTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGATT GTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAAA AAAAAAAAAAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	364	0.0028	431	c.18 others(442): Show c.1840_*1841insATATATATATATTTTTTTTTTTTTTTTTTTTTTT TTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCACAA TCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCCACCACGCCCAGCT AATTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACCATGTTCACCAGGA TGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTCGGCATCCCAAATA TATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGCTGGAGAGCAGCAG GGCAATCATAGCTCACTGTAGCCTCAAACACCTCAATCCTCCCACCTCAG CCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCATGCCTGCCTA	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1745		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735558	A A	ATAGGCAG others(424): Show ATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGCT GAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCCT GCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAATATATAT TTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCATCC TGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGC TGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGATTG TGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	364	0.0028	431	c.18 others(442): Show c.1839_*1840insATATATATATTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCACA ATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCCACCACGCCCAGC TAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCACCAGG ATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTCGGCATCCCAAAT ATATATTTTAAAGACAGGGTCTTCCTGTCACCCAGGCTGGAGAGCAGCAG GGCAATCATAGCTCACTGTAGCCTCAAACACCTCAATCCTCCCACCTCAG CCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCATGCCTGCCTA	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1744		chr1	TogoVar
MSH4_chr1_75791882_75918242	75906498	T T	TATATATA others(424): Show TATATATACAATATTATATATATTATATATAATATTATATATATTATATA TAATATATATACAATATTATATATATTATATATAATATATATACAATATT ATATATATTATATATATATATACATATATATGTATATATACATATATAAT ATGTATATATGTATATATATATGTATAATATATATATTGTATATATATAT TATACATATGTATATATATATTATACATATATATGTATAATATATATAAT GTATATATATATACATATTATATATTATATATAATATATACATATATATT ATATATAATATATACATATTATATATTATATATATAATATATATACATAT TATATTATATATAATATATATACATATTACATATATTATATATAATATAT ATACATATATAATATATTATATATTATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0156 a0002c0003t0001g0156	1	332	0.0030	431	c.262 others(450): Show c.2620-6191_2620-6190insCAATATTATATATATTATATATAATA TTATATATATTATATATAATATATATACAATATTATATATATTATATATA ATATATATACAATATTATATATATTATATATATATATACATATATATGTA TATATACATATATAATATGTATATATGTATATATATATGTATAATATATA TATTGTATATATATATTATACATATGTATATATATATTATACATATATAT GTATAATATATATAATGTATATATATATACATATTATATATTATATATAA TATATACATATATATTATATATAATATATACATATTATATATTATATATA TAATATATATACATATTATATTATATATAATATATATACATATTACATAT ATTATATATAATATATATACATATATAATATATTATATATTATATATAAT ATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATGT others(424): Show CTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATACCGTA TATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATA TATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATA TACACAGTATGTATACTGTGTATATATACACAGTATGTATACTGCATACA GTATGTATACTGTATACATACTGCATGCAGTATGTATACTGTATACATAC TGCATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTATACTGT ATATATACACTATACAGTATGTATACTGTATATATACACTATACAGTATG TATACTGTATATATACACAATACAGTATGTATACTGTATATATACACAAT ACAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0105 a0001c0005t0006g0105	1	362	0.0028	431	c.-75 others(450): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTATTGTGTATATATACAGTATACATACTGTATTGTGTATATATAC AGTATACATACTGTATAGTGTATATATACAGTATACATACTGTATAGTGT ATATATACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTG CATGCAGTATGTATACAGTATACATACTGCATGCAGTATGTATACAGTAT ACATACTGTATGCAGTATACATACTGTGTATATATACACAGTATACATAC TGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATACTG TGTATATATACGGTATACATACTGTGTATATATACGGTATACATACTGTG TATATATACGGTATACATACATACAGTATACATACATACAGTATACATAC ATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(424): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATAC CGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTA TATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATA TATACACAGTATGTATACTGTGTATGCAGTATGTATACACTATACAGTAT GTATACTGTATATATACACTATACAGTATGTATACTGTATATATACACAC AGTATGTATACTGTATATATACACACAGTATGTATACTGTATATATACAC ACAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0155 a0001c0007t0001g0155	1	362	0.0028	431	c.-75 others(450): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTATAGTGTATATATACA GTATACATACTGTATAGTGTATACATACTGCATACACAGTATACATACTG TGTATATATACGGTATACATACTGTGTATATATACGGTATACATACTGTG TATATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTA TATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATA TATACGGTATACATACATACAGTATACATACATACAGTATACATACATAC AGTATACATGCTGTACACAGTATACATGCTGTACACAGTATACATGCTGT ACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(424): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTATGTAT GTATACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACA GTATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGT ATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTAT GTATACCGTATATATACACAGTATGTATACTGTGTATGCAGTATGTATAC AGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGT ATGTATACTGTATATATACACTATACAGTATGTATACTGTATATATACAC ACAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	362	0.0028	431	c.-75 others(450): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTATAGTGTATATATACAGT ATACATACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGTATG TATACTGTATACATACTGCATACACAGTATACATACTGTGTATATATACG GTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGT ATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTAT ACATACTGTGTATATATACGGTATACATACATACAGTATACATACATACA GTATACATACATACAGTATACATGCTGTACACAGTATACATGCTGTACAC AGTATACATGCTGTACACAGTATACATGCTGTACACAGTATACATGCTGT ACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NR3C2_chr4_148073764_148447414	148366424	G G	GAAAAAGA others(424): Show GAAAAAGAATACTTTTTAAAAAGTACTTTTTAAAAAGAATACTTTTTAAA AAGTACTTTTTAAAAAGAATACTTTTTAAAAAGTACTTTTTAAAAAGAAT ACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTAAAAAGTACTTTTA AAAAGAATACTTTTTAAAAAGTACTTTTAAAAAGAATACTTTTTAAAAAG TACTTTTAAAAAGAATACTTTTAAAAAAGAATACTTTTTAAAAGTACTTT TAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAA AAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAA TACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTT TAAAAAAGAATACTTTTTAAAAAGTACTTTTA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01169.hp1 HG02155.hp2 HG00323.hp1 HG01169.hp1 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0086 a0001c0001t0003g0128 a0001c0001t0004g0138 a0001c0001t0001g0086 a0001c0001t0003g0128 a0001c0001t0004g0138	3	170	0.0177	431	c.175 others(452): Show c.1757+68679_1757+68680insTAAAAGTACTTTTTAAAAAGTATT CTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTT AAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAA AGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATT CTTTTTTAAAAGTACTTTTAAAAAGTATTCTTTTTTAAAAGTATTCTTTT TAAAAGTACTTTTTAAAAAGTATTCTTTTTAAAAGTACTTTTTAAAAAGT ATTCTTTTTAAAAGTACTTTTTAAAAGTATTCTTTTTTAAAAGTACTTTT TAAAAAGTATTCTTTTTAAAAAGTACTTTTTAAAAAGTATTCTTTTTAAA AAGTACTTTTTAAAAAGTATTCTTTTTAAAAAGTACTTTTTAAAAAGTAT TCTTTTT	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8			chr4	TogoVar
NR3C2_chr4_148073764_148447414	148366424	G G	GAAAAAGA others(424): Show GAAAAAGAATACTTTTTAAAAAGTACTTTTTAAAAAGAATACTTTTTAAA AAGTACTTTTTAAAAAGAATACTTTTTAAAAAGTACTTTTTAAAAAGAAT ACTTTTTAAAAAGTACTTTTTAAAAAGAATACTTTTTAAAAAGTACTTTT AAAAAAGAATACTTTTAAAAAGTACTTTTAAAAAGAATACTTTTTAAAAA GTACTTTTAAAAAGAATACTTTTTAAAAAGTACTTTAAAAAAGAATACTT TTAAAAAAGAATACTTTTTAAAAGTACTTTTAAAAAAGAATACTTTTTAA AAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAA TACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTT TAAAAAAGAATACTTTTTAAAAAGTACTTTTA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	170	0.0059	431	c.175 others(452): Show c.1757+68679_1757+68680insTAAAAGTACTTTTTAAAAAGTATT CTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTT AAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAA AGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTAAAAAGTATTC TTTTTTAAAAGTATTCTTTTTTAAAGTACTTTTTAAAAAGTATTCTTTTT AAAAGTACTTTTTAAAAAGTATTCTTTTTAAAAGTACTTTTTAAAAGTAT TCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTAAAAAGTACTTTT TAAAAAGTATTCTTTTTAAAAAGTACTTTTTAAAAAGTATTCTTTTTAAA AAGTACTTTTTAAAAAGTATTCTTTTTAAAAAGTACTTTTTAAAAAGTAT TCTTTTT	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8			chr4	TogoVar
NR3C2_chr4_148073764_148447414	148366424	G G	GAAAAAGA others(424): Show GAAAAAGAATACTTTTTAAAAAGTACTTTTTAAAAAGAATACTTTTTAAA AAGTACTTTTTAAAAAGAATACTTTTTAAAAAGTACTTTTTAAAAAGAAT ACTTTTTAAAAAGTACTTTTTAAAAAGAATACTTTTTAAAAAGTACTTTT AAAAAAGAATACTTTTAAAAAGTACTTTTAAAAAGAATACTTTTTAAAAA GTACTTTTAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAGAATACTT TTAAAAAAGAATACTTTTTAAAAGTACTTTTAAAAAAGAATACTTTTTAA AAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAA TACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTT TAAAAAAGAATACTTTTTAAAAAGTACTTTTA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0027	1	170	0.0059	431	c.175 others(452): Show c.1757+68679_1757+68680insTAAAAGTACTTTTTAAAAAGTATT CTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTT AAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAA AGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTAAAAAGTATTC TTTTTTAAAAGTATTCTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTT AAAAGTACTTTTTAAAAAGTATTCTTTTTAAAAGTACTTTTTAAAAGTAT TCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTAAAAAGTACTTTT TAAAAAGTATTCTTTTTAAAAAGTACTTTTTAAAAAGTATTCTTTTTAAA AAGTACTTTTTAAAAAGTATTCTTTTTAAAAAGTACTTTTTAAAAAGTAT TCTTTTT	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8			chr4	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(424): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTTCCCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0096 a0001c0001t0015g0096	1	326	0.0031	431	c.433 others(448): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAG GGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NXN_chr17_794310_984776	948826	G G	GGCCTCCT others(424): Show GGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTC TCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTC CTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCCTGCCTCCTCCTCTCCCCC CGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCT CTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCGTGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCC CTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTC TCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCGGCCTC CTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	242	0.0041	431	c.360 others(450): Show c.360+30492_360+30493insAGGGGGAGAGGAGGAGGCAGGGGGGA GAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAG GGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGG AGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCACGGGGAG AGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGG GGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGG AGGCCGGGGGGAGAGGAGGAGGCAGGGGGGGAGAGGAGGAGGCAGGGGGA GAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAG GGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAG GAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949032	C C	CCTGCCTC others(424): Show CCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCT CTCCCCGCGGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCC CTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCT CTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCC TGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTC TCCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCT CCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	242	0.0041	431	c.360 others(450): Show c.360+30286_360+30287insCGGGGAGAGGAGGAGGCAGGGGGGAG AGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAG GGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAG GAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAG AGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAG GGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGG AGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAG AGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCCGC GGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGA GGCAG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949221	G G	GTGGCCTC others(424): Show GTGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCT CTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCC CCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCT CTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCC TCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCC CCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCT CTCCCCCCTGCCTCCTCCTCTCCCCGCTGCCTCCTCCTCTCCCCCTGCCT CCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	242	0.0041	431	c.360 others(450): Show c.360+30097_360+30098insGGGGGAGAGGAGGAGGCAGGGGGGAG AGGAGGAGGCAGGGGGAGAGGAGGAGGCAGCGGGGAGAGGAGGAGGCAGG GGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGA GGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGA GGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGG GGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGA GGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAG AGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGG GGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGA GGCCA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PARP10_chr8_143972158_143991460	143981666	G G	GTGGTGAT others(424): Show GTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGA TGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGGTGGTGACGAC AGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGT GAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTG GTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGGTGG TGACGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGT GAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAA GGTGGTGGTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATG ATGGTGGTGACGACAGTGAGTGGTGAAGGTGA	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0254 a0002c0002t0002g0254	1	380	0.0026	431	c.255 others(450): Show c.2556+1265_2556+1266insTCACCTTCACCACTCACTGTCGTCAC CACCATCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCACC ACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCA CCACTCACTGTCGTCACCACCATCATCACCATCACCTTCACCACTCACTG TCGTCACCACCATCACCATCACCTTCACCACTCACTGTCGTCACCACCAT CATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCACC ACCTTCACCACTCACTGTCGTCACCACCATCATCACCATCACCTTCACCA CTCACTGTCGTCACCACCATCACCACCACCTTCACCACTCACTGTCGTCA CCACCATCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCAT CACCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PCDH11Y_chrY_4995296_5747224	5525214	T T	TGGGAGGA others(424): Show TGGGAGGAGGAGGAGTGGGAGGAGGAGGGGGGAGGAGGCGGAGGGGGAGG AGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGG AGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGG AGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGG AGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAG GAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAGGA GGACGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGT GGGGAGGAGGAGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAG GAGGAGGGGGAGGAGGGGGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03579.hp1 HG03710.hp1 HG01099.hp1 HG03579.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0082 a0001c0001t0001g0096 a0001c0001t0001g0065 a0001c0001t0001g0082 a0001c0001t0001g0096	3	115	0.0261	431	c.305 others(452): Show c.3052+23989_3052+23990insGAGGAGGCGGAGGGGGAGGAGGAG GGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGGAGGGG GCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAG GGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAG GAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGA GGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAGGAGGACG GGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGTGGGGA GGAGGAGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGA GGGGGAGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGTGGGAGGAG GAGGGGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PKP3_chr11_389209_409908	398689	G G	GCGTCACC others(424): Show GCGTCACCTCCGTACCCCCACATATACCTCATCACCTCCATACCCCCGCA CACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCATCACCTCCATA CCCCCACACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCA CCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACAC CTGTGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCG CACATACCTGCGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGT ACCCCCGCACACACCTGCGTCACCTCCCTACCCCCACATATACCTCATCA CCTCCGTACACCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACAC CTCCGTCACCTCCGTACCCCCGCACACACCTC	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	216	0.0046	431	c.106 others(448): Show c.1069-285_1069-284insACATATACCTCATCACCTCCATACCCCC GCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCATCACCTCC ATACCCCCACACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCG TCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACA CACCTGTGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACAC CCGCACATACCTGCGTCACCTCCCTACCCCCACATATACCTCATCACCTC CGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCACATATACCTCA TCACCTCCGTACACCCGCACACACCTGCGTCACCTCCCTACCCCCGCACA CACCTCCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACC CCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLEKHG4B_chr5_87168_194966	141082	C C	CCCCTGCA others(424): Show CCCCTGCACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGC ACACCCCACAACCTCCCCCTGCATACCCCACAACCTCCCCTGCACACCCC CACCCCCTCCCCTGCACACCCCCCCTCTCCCCTGCACACCCCCACCCACT CCCCTGCACACCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCA CACGCACACCCCACCCCCTCCCCACACACTCCCACCCCCTCCCCGCACAC CCCCATCCCCTCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCCACC CCCTCCCCGCACACCCCCATCTCCTCCCCTGCACACCCCACAACCTCCCC TGCACACCCCCACCCCCTCCCCGCACACCCCCACCCCCTCCCCTGCACAC CCCCACCCCCTCCCCGCACACCCCCATCTCCT	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA18522.hp2 HG02723.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0006 a0001c0011t0106 a0001c0002t0006 a0001c0011t0106	a0001c0002t0006g0134 a0001c0011t0106g0085 a0001c0002t0006g0134 a0001c0011t0106g0085	2	210	0.0095	431	c.147 others(448): Show c.1477+369_1477+370insTGCACACCCCACAACCTCCCCCTGCACA CCCCACCCCCTCCCCTGCACACCCCACAACCTCCCCCTGCATACCCCACA ACCTCCCCTGCACACCCCCACCCCCTCCCCTGCACACCCCCCCTCTCCCC TGCACACCCCCACCCACTCCCCTGCACACCCCACCCCCTCCCCTGCACAC CCCCACCCCCTCCCCGCACACGCACACCCCACCCCCTCCCCACACACTCC CACCCCCTCCCCGCACACCCCCATCCCCTCCCCTGCACACCCCACCCCCT CCCCTGCACACCCCCACCCCCTCCCCGCACACCCCCATCTCCTCCCCTGC ACACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCGCACACCCCC ACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACCCCCATCTCCT CCC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPP2R2C_chr4_6315581_6477614	6353775	A A	AACACCCA others(424): Show AACACCCAACAGCCTTCCCATACTGACAGCACCCCAACACCGACAGCCCC CCAACACTGAGAGCCCCCCAACCAACAGCCCCCACACTGACAGCCCCCCC ACACCGACAGCCCCCCCACACCGACAGCCCTCCACACCGACAGCCCCCCC ACACCAACAGCCCCCAACACCCGACAGCCCCCAACACCCAACAGCCCCCC CACACCAACAACCCCCCACACCGACAGCCCCCCACACCGACAGCCCCACA CACCAACAGCCCCCCCACAGTGACAGCCCCCCACACCGACAGCCCCCCCA CACCGACAGCCCCCCCACACTGACAGCCCTTCACACCGACAGACCCCCCA CACCAACAGCCCCCAACACGCAACAGCCCCTAACACCCGACAGCCCCCCC ACACTGACAACCCCCCACACCGACAGCCCCCC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	298	0.0034	431	c.626 others(448): Show c.626-5766_626-5765insGGGGGGCTGTCGGTGTGGGGGGTTGTCA GTGTGGGGGGGCTGTCGGGTGTTAGGGGCTGTTGCGTGTTGGGGGCTGTT GGTGTGGGGGGTCTGTCGGTGTGAAGGGCTGTCAGTGTGGGGGGGCTGTC GGTGTGGGGGGGCTGTCGGTGTGGGGGGCTGTCACTGTGGGGGGGCTGTT GGTGTGTGGGGCTGTCGGTGTGGGGGGCTGTCGGTGTGGGGGGTTGTTGG TGTGGGGGGGCTGTTGGGTGTTGGGGGCTGTCGGGTGTTGGGGGCTGTTG GTGTGGGGGGGCTGTCGGTGTGGAGGGCTGTCGGTGTGGGGGGGCTGTCG GTGTGGGGGGGCTGTCAGTGTGGGGGCTGTTGGTTGGGGGGCTCTCAGTG TTGGGGGGCTGTCGGTGTTGGGGTGCTGTCAGTATGGGAAGGCTGTTGGG TGT	PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	5/8			chr4	TogoVar
PRKN_chr6_161342417_162732766	161874944	T T	TAATATAT others(424): Show TAATATATAATATATATTATATATAAAGTATATATAATATATATTATATA TAGTACACTATATATAAAGTATATATAGTACACTATATATAAAGTATATA TAGTACACTATATATAAAGTATATATAGTACACTATATATAAAGTATATA TAGTACACTATATATAAAGTATATATAGTACACTATATATAAAGTATATA TAGTACACTATATATAAAGTATATATAGTACACTATATATAAAGTATATA TAGTACACTATATATAAAGTATATATAGTACACTATATATAAAGTATATA TAGTACACTATATATAAAGTATATATAGTACACTATAAAGTATATATAGT ATATTATATATACAGTATATATAGTATATTATATATACAGTATATATATT ATATATACAGTATATAATATATTTATATACAG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0015 a0003c0005t0001g0015	1	32	0.0313	431	c.735 others(450): Show c.735-89037_735-89036insCTGTATATAAATATATTATATACTGT ATATATAATATATATACTGTATATATAATATACTATATATACTGTATATA TAATATACTATATATACTTTATAGTGTACTATATATACTTTATATATAGT GTACTATATATACTTTATATATAGTGTACTATATATACTTTATATATAGT GTACTATATATACTTTATATATAGTGTACTATATATACTTTATATATAGT GTACTATATATACTTTATATATAGTGTACTATATATACTTTATATATAGT GTACTATATATACTTTATATATAGTGTACTATATATACTTTATATATAGT GTACTATATATACTTTATATATAGTGTACTATATATACTTTATATATAGT GTACTATATATAATATATATTATATATACTTTATATATAATATATATTAT ATATT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar

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