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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RNF223_chr1_1065967_1079306	1078446	G G	GGCTGAGG others(833): Show GGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTC CGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGCTGAGGCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGA GGCTGAGGCTATGGGGACTCCATCGGGGGAGGCTGAGGCTAGGGGGACTC CGTCGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGA GGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTC CGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCT ATGGGGACTCCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGGCGGGA GGCTGAGGCTATGGGGACTCCGTGGCGGGAGGCTGAGGCTATGGGGACTC CGTGGCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCT ATGGGGACTCCGTGCGGGGTGGCTGTGGCTATGGGGACTCCGTGCCGGGT GGCTGTGGCTATGGGGACTCCGTGCCGAGAGGCTGAGTCTATGGGGACTC CGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGA GGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTC CGTGGGGGGACGCTGAGGCTATGGGGACTCCGTGGGGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0002 a0010c0010t0002	a0010c0010t0002g0031 a0010c0010t0002g0031	1	244	0.0041	840	c.-44 others(851): Show c.-4441_-4440insGTCCCCCCACGGAGTCCCCATAGCCTCAGCGTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAGC CTCAGCCTCCCCCAACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCTCC CGGCACGGAGTCCCCATAGACTCAGCCTCTCGGCACGGAGTCCCCATAGC CACAGCCACCCGGCACGGAGTCCCCATAGCCACAGCCACCCCGCACGGAG TCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCC CGCCACGGAGTCCCCATAGCCTCAGCCTCCCGCCACGGAGTCCCCATAGC CTCAGCCTCCCGCCACGGAGTCCCCATAGCCTCAGCCACCCCTCACGGAG TCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGC CTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGCCTCAGCCTCCCCCAACGGAGTCCCCATAGCCTCAGCCTCC CCCGACGGAGTCCCCCTAGCCTCAGCCTCCCCCGATGGAGTCCCCATAGC CTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGCCTCAGCCACCCCTCACGGAGTCCCCATAGCCTCAGCCTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGC CTCAGC		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					4141		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078476	G G	GGCTGAGG others(833): Show GGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTC CGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGCTGAGGCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGA GGCTGAGGCTATGGGGACTCCGTCGGGGGAGGCTGAGGCTAGGGGGACTC CGTCGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGA GGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTC CGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCT ATGGGGACTCCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGA GGCTGAGGCTATGGGGACTCCGTGGCGGGAGGCTGAGGCTATGGGGACTC CGTGGCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCT ATGGGGACTCCGTGCGGGGTGGCTGTGGCTATGGGGACTCCGTGCCGGGT GGCTGTGGCTATGGGGACTCCGTGCCGAGAGGCTGAGTCTATGGGGACTC CGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGA GGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTC CGTGGGGGGACGCTGAGGCTATGGGGACTCCGTGGGGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0004 a0002c0003t0002g0004	1	294	0.0034	840	c.-44 others(851): Show c.-4471_-4470insGTCCCCCCACGGAGTCCCCATAGCCTCAGCGTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAGC CTCAGCCTCCCCCAACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCTCC CGGCACGGAGTCCCCATAGACTCAGCCTCTCGGCACGGAGTCCCCATAGC CACAGCCACCCGGCACGGAGTCCCCATAGCCACAGCCACCCCGCACGGAG TCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCC CGCCACGGAGTCCCCATAGCCTCAGCCTCCCGCCACGGAGTCCCCATAGC CTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCACCCCTCACGGAG TCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGC CTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGCCTCAGCCTCCCCCAACGGAGTCCCCATAGCCTCAGCCTCC CCCGACGGAGTCCCCCTAGCCTCAGCCTCCCCCGACGGAGTCCCCATAGC CTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGCCTCAGCCACCCCTCACGGAGTCCCCATAGCCTCAGCCTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGC CTCAGC		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					4171		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078476	G G	GGCTGAGG others(833): Show GGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTC CGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGCTGAGGCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGA GGCTGAGGCTATGGGGACTCCATCGGGGGAGGCTGAGGCTAGGGGGACTC CGTCGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGA GGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTC CGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCT ATGGGGACTCCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGA GGCTGAGGCTATGGGGACTCCGTGGCGGGAGGCTGAGGCTATGGGGACTC CGTGGCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCT ATGGGGACTCCGTGCGGGGTGGCTGTGGCTATGGGGACTCCGTGCCGGGT GGCTGTGGCTATGGGGACTCCGTGCCGAGAGGCTGAGTCTATGGGGACTC CGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGA GGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTC CGTGGGGGGACGCTGAGGCTATGGGGACTCCGTGGGGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0004 a0002c0003t0002g0004	1	294	0.0034	840	c.-44 others(851): Show c.-4471_-4470insGTCCCCCCACGGAGTCCCCATAGCCTCAGCGTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAGC CTCAGCCTCCCCCAACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCTCC CGGCACGGAGTCCCCATAGACTCAGCCTCTCGGCACGGAGTCCCCATAGC CACAGCCACCCGGCACGGAGTCCCCATAGCCACAGCCACCCCGCACGGAG TCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCC CGCCACGGAGTCCCCATAGCCTCAGCCTCCCGCCACGGAGTCCCCATAGC CTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCACCCCTCACGGAG TCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGC CTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGCCTCAGCCTCCCCCAACGGAGTCCCCATAGCCTCAGCCTCC CCCGACGGAGTCCCCCTAGCCTCAGCCTCCCCCGATGGAGTCCCCATAGC CTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGCCTCAGCCACCCCTCACGGAGTCCCCATAGCCTCAGCCTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGC CTCAGC		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					4171		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078476	G G	GGCTGAGG others(833): Show GGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTC CGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGCTGAGGCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGA GGCTGAGGCTATGGGGACTCCGTCGGGGGAGGCTGAGGCTAGGGGGACTC CGTCGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGA GGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTC CGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCT ATGGGGACTCCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGA GGCTGAGGCTATGGGGACTCCGTGGCGGGAGGCTGAGGCTATGGGGACTC CGTGGCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCT ATGGGGACTCCGTGCGGGGTGGCTGTGGCTATGGGGACTCCGTGCCGGGT GGCTGTGGCTATGGGGACTCCGTGCCGAGAGGCTGAGTCTATGGGGACTC CGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGA GGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTC CGTGGGGGGACGCTGAGGCTATGGGGACTCCGTGGGGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0004 a0002c0003t0002g0004	1	294	0.0034	840	c.-44 others(851): Show c.-4471_-4470insGTCCCCCCACGGAGTCCCCATAGCCTCAGCGTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAGC CTCAGCCTCCCCCAACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCTCC CGGCACGGAGTCCCCATAGACTCAGCCTCTCGGCACGGAGTCCCCATAGC CACAGCCACCCGGCACGGAGTCCCCATAGCCACAGCCACCCCGCACGGAG TCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCC CGCCACGGAGTCCCCATAGCCTCAGCCTCCCGCCACGGAGTCCCCATAGC CTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCACCCCTCACGGAG TCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGC CTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGCCTCAGCCTCCCCCAACGGAGTCCCCATAGCCTCAGCCTCC CCCGACGGAGTCCCCCTAGCCTCAGCCTCCCCCGACGGAGTCCCCATAGC CTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGCCTCAGCCACCCCTCACGGAGTCCCCATAGCCTCAGCCTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGC CTCAGC		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					4171		chr1	TogoVar
ROBO2_chr3_77035099_77654964	77322918	A A	ATATATTA others(833): Show ATATATTATGGATAATATAATATATTATATTATATTATGGATAATATAAT ATATTATATTATATTATGGATAATATAATATATTATATTATATTATGGAT AATATAATATAATATATTATATTATGGATAATATAATATATTATATTATA TTATGGATAATCTAATATATTATATTATATTATGGATAATCTAATATATT ATATTATATTATGGATAATATAATATATTATATTATGGATAATATATTAT ATTATGGATAATATAATATATTATATTATGGATAATATATTATATTATGG ATAATATAATATATTATATTATGGATAATATATTATATTATGGATAATAT AATATATTATATTATGGATAATATATTATATTATGGATAATATAATATAT TATATTATGGATAATATATTATATTATGGATAATATAATATATTATATTA TGGATAATATATTATATTATGGATAATATAATATATTATATTATGGATAA TATAATATATTATATTATGGATAATATAATATATTATATTATGGATAATA TAATATATTATATTATGGATAATATAATATAGTATATTATGGATAATATA GTATATTATGGATAATATAATATATTATATTATGGATAATATAATATATT ATATAATATATTATATTATGGATAATATAATATATTATATAATATATTAT ATTATGGATAATATAATATATTATATAATATATTATATTATGGATAATAT AATATATTATATAATATATTATATTATGGATAATATAATATATTATATAA TATATTATATTATGGATAATATAATATATTATATAATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0084 a0001c0001t0028g0084	1	133	0.0075	840	c.389 others(861): Show c.389-154386_389-154385insATATATTATATTATGGATAATATA ATATATTATATTATATTATGGATAATCTAATATATTATATTATATTATGG ATAATCTAATATATTATATTATATTATGGATAATATAATATATTATATTA TGGATAATATATTATATTATGGATAATATAATATATTATATTATGGATAA TATATTATATTATGGATAATATAATATATTATATTATGGATAATATATTA TATTATGGATAATATAATATATTATATTATGGATAATATATTATATTATG GATAATATAATATATTATATTATGGATAATATATTATATTATGGATAATA TAATATATTATATTATGGATAATATATTATATTATGGATAATATAATATA TTATATTATGGATAATATAATATATTATATTATGGATAATATAATATATT ATATTATGGATAATATAATATATTATATTATGGATAATATAATATAGTAT ATTATGGATAATATAGTATATTATGGATAATATAATATATTATATTATGG ATAATATAATATATTATATAATATATTATATTATGGATAATATAATATAT TATATAATATATTATATTATGGATAATATAATATATTATATAATATATTA TATTATGGATAATATAATATATTATATAATATATTATATTATGGATAATA TAATATATTATATAATATATTATATTATGGATAATATAATATATTATATA ATATATTATATTATGGATAATATAATATATTATATTATATTATGGATAAT ATAATATATTATATTATATTATGGATAATATAATATATTATATTATATTA TGGATAATATAATATA		ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77323000	T T	TTATATTA others(833): Show TTATATTATATTATGGATAATATAATATAATATATTATATTATGGATAAT ATAATATATTATATTATATTATGGATAATCTAATATATTATATTATATTA TGGATAATCTAATATATTATATTATATTATGGATAATATAATATATTATA TTATGGATAATATATTATATTATGGATAATATAATATATTATATTATGGA TAATATATTATATTATGGATAATATAATATATTATATTATGGATAATATA TTATATTATGGATAATATAATATATTATATTATGGATAATATATTATATT ATGGATAATATAATATATTATATTATGGATAATATATTATATTATGGATA ATATAATATATTATATTATGGATAATATATTATATTATGGATAATATAAT ATATTATATTATGGATAATATATTATATTATGGATAATATAATATATTAT ATTATGGATAATATAATATATTATATTATGGATAATATAGTATATTATGG ATAATATAATATATTATATTATGGATAATATAATATATTATATAATATAT TATATTATGGATAATATAATATATTATATAATATATTATATTATGGATAA TATAATATATTATATAATATATTATATTATGGATAATATAATATATTATA TAATATATTATATTATGGATAATATAATATATTATATATTATATTATATT ATGGATAATATAATATATTATATATTATATTATATTATGGATAATATAAT ATATTATATTATATTATGGATAATATAATATATTATATTATATTATGGAT AATATAATATATTATATTATATTATGGATAATATAATATAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0047 a0001c0001t0011g0047	1	136	0.0074	840	c.389 others(861): Show c.389-154386_389-154385insATATATTATATTATGGATAATATA ATATATTATATTATATTATGGATAATCTAATATATTATATTATATTATGG ATAATCTAATATATTATATTATATTATGGATAATATAATATATTATATTA TGGATAATATATTATATTATGGATAATATAATATATTATATTATGGATAA TATATTATATTATGGATAATATAATATATTATATTATGGATAATATATTA TATTATGGATAATATAATATATTATATTATGGATAATATATTATATTATG GATAATATAATATATTATATTATGGATAATATATTATATTATGGATAATA TAATATATTATATTATGGATAATATATTATATTATGGATAATATAATATA TTATATTATGGATAATATATTATATTATGGATAATATAATATATTATATT ATGGATAATATAATATATTATATTATGGATAATATAGTATATTATGGATA ATATAATATATTATATTATGGATAATATAATATATTATATAATATATTAT ATTATGGATAATATAATATATTATATAATATATTATATTATGGATAATAT AATATATTATATAATATATTATATTATGGATAATATAATATATTATATAA TATATTATATTATGGATAATATAATATATTATATATTATATTATATTATG GATAATATAATATATTATATATTATATTATATTATGGATAATATAATATA TTATATTATATTATGGATAATATAATATATTATATTATATTATGGATAAT ATAATATATTATATTATATTATGGATAATATAATATAATATATTATATTA TGGATAATATAATATA		ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
RPH3AL_chr17_207389_357807	273208	T T	TGACGTCA others(833): Show TGACGTCAGGAAGAGACCCCAGCGAGGGTGACTTCAGGGAGAGACCCCAG CGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGCGACATCAGGAAGAGA CCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGG GAGAGACCCCAGCGAGGGTGACGTCAGGAAGAGACCCCAGCGAGGGTGAC TTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGAAGAGACCCCAGCGAG GGTGACGTCAGGAAGAGACCCCAGCGAGGGTGACTTCAGGGAGAGACCCC AGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGAAGA GACCCCAGCGAGGGTGACTTCAGGGAGAGACCCCAGCGAGGGTGACGTCA GGGAGAGACCCCAGCGAGGGTGACTTCAGGGTGAGACCCCAGCGAGGGCG ACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGAAGAGACCCCAGCG AGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACTTCAGGGAGAGACC CCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGT GAGACCCCAGCGAGGGTGACGTCAGGAAGAGACCCCAGCGAGGGCGACGT CAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCAAGGG TGACTTCAGGGTGAGACCCCAGCGAGGGCGACGTCAGGGTGAGACCCCAG CGAGGGTGACTTCAGGGTGAGACCCCGGCGAGGGTGACTTCAGGGAGAGA CCCCGGCGAGGGTGACGTCAGGAAGAGACCCCAGCGAGGGC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	102	0.0098	840	c.438 others(857): Show c.438+8559_438+8560insGCCCTCGCTGGGGTCTCTTCCTGACGTC ACCCTCGCCGGGGTCTCTCCCTGAAGTCACCCTCGCCGGGGTCTCACCCT GAAGTCACCCTCGCTGGGGTCTCACCCTGACGTCGCCCTCGCTGGGGTCT CACCCTGAAGTCACCCTTGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTG GGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTTCCTGACGTCACCC TCGCTGGGGTCTCACCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACG TCGCCCTCGCTGGGGTCTCTCCCTGAAGTCACCCTCGCTGGGGTCTCTCC CTGACGTCGCCCTCGCTGGGGTCTCTTCCTGACGTCACCCTCGCTGGGGT CTCTCCCTGACGTCGCCCTCGCTGGGGTCTCACCCTGAAGTCACCCTCGC TGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGAAGTCAC CCTCGCTGGGGTCTCTTCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGA CGTCGCCCTCGCTGGGGTCTCTCCCTGAAGTCACCCTCGCTGGGGTCTCT TCCTGACGTCACCCTCGCTGGGGTCTCTTCCTGACGTCACCCTCGCTGGG GTCTCTCCCTGAAGTCACCCTCGCTGGGGTCTCTTCCTGACGTCACCCTC GCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTC GCCCTCGCTGGGGTCTCTTCCTGATGTCGCCCTCGCTGGGGTCTCTCCCT GACGTCACCCTCGCTGGGGTCTCTCCCTGAAGTCACCCTCGCTGGGGTCT CTTCCTGACGTC		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	273443	A A	AGAGACCC others(833): Show AGAGACCCCAGCGAGGGTGACGTCAGGAAGAGACCCCAGCGAGGGTGACT TCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGG GCGACGTCAGGAAGAGACCCCAGCGAGGGTGACTTCAGGGAGAGACCCCA GCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACTTCAGGGTGAG ACCCCAGCGAGGGTGACTTCAGGGTGAGACCCCAGCGAGGGCGACGTCAG GAAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGA CGTCAGGGAGAGACCCCAGCGAGGGTGACATCAGGGAGAGACCCCAGCGA GGGTGACTTCAGGGTGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCC CAGCGAGGGTGACGTCAGGAAGAGACCCCAGCGAGGGCGACGTCAGGGTG AGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTC AGGAAGAGACCCCAGCGAGGGTGACTTCAGGGAGAGACCCCAGCGAGGGT GACTTCAGGGTGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGC GAGGGCTACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGAAGAGAC CCCAGCGAGGGTGACTTCAGGGAGAGACCCCAGCGAGGGTGACATCAGGG AGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGCGACG TCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGTGAGACCCCAGCGAGG GCGACGTCAGGAAGAGACCCCAGCGAGGGTGACGTCAGGGT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0092 a0001c0001t0004g0092	1	111	0.0090	840	c.438 others(857): Show c.438+8324_438+8325insACCCTGACGTCACCCTCGCTGGGGTCTC TTCCTGACGTCGCCCTCGCTGGGGTCTCACCCTGACGTCACCCTCGCTGG GGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCT CGCTGGGGTCTCTCCCTGATGTCACCCTCGCTGGGGTCTCTCCCTGAAGT CACCCTCGCTGGGGTCTCTTCCTGACGTCACCCTCGCTGGGGTCTCTCCC TGACGTAGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTC TCACCCTGAAGTCACCCTCGCTGGGGTCTCTCCCTGAAGTCACCCTCGCT GGGGTCTCTTCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCC CTCGCTGGGGTCTCACCCTGACGTCGCCCTCGCTGGGGTCTCTTCCTGAC GTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCAC CCTGAAGTCACCCTCGCTGGGGTCTCTCCCTGATGTCACCCTCGCTGGGG TCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCG CTGGGGTCTCTTCCTGACGTCGCCCTCGCTGGGGTCTCACCCTGAAGTCA CCCTCGCTGGGGTCTCACCCTGAAGTCACCCTCGCTGGGGTCTCTCCCTG ACGTCACCCTCGCTGGGGTCTCTCCCTGAAGTCACCCTCGCTGGGGTCTC TTCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGG GGTCTCTCCCTGAAGTCACCCTCGCTGGGGTCTCTTCCTGACGTCACCCT CGCTGGGGTCTC		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9						chr17	TogoVar
SAMD11_chr1_918923_949574	934861	G G	GCGTTACA others(833): Show GCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGG GCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGG TGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGT TACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGG CTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGG AGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGG CGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACA GGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGC GTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGC GGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGG GGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTG GGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTA CAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCT GCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAG GCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCTGCTC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0182	1	383	0.0026	840	c.843 others(855): Show c.843-884_843-883insCCGTTACAGGTGGGCGGGGGGGGCTGCTCC GTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGC GGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGG GGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTG GGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTA CAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCT GCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGG GCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCG GGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGG TGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGT TACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGG CTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGG GGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGG CGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACA GGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCTGCTCC GTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGC GGCTGCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGG GGAGGCGGCT		SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934937	G G	GGGCGGCT others(833): Show GGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGG CAGGGGGGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACA GGTGGGCAGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGC GTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGGGGC GGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGG GGGGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTG GGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTA CAGGTGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCGGGGGAGGCTGCT CCGTTACAGGTGGGCAGGGGGGGCGGCTGCGTTACAGGTGGGCAGGGGAG GCGGCTCCGTTACAGGTGGGCAGGGGGGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGG TGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCTGCTCCGT TACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGTCGG CTGCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGG GGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGG CAGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACA GGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCAGGGGA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0252 a0002c0003t0004g0252	1	46	0.0217	840	c.843 others(855): Show c.843-810_843-809insGGGGGCGGCTGCGTTACAGGTGGGCAGGGG GGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGG CAGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACA GGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGC GTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGC GGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGG GGAGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTG GGCGGGGGAGTCGGCTGCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTA CAGGTGGGCAGGGGGGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCT CCGTTACAGGTGGGCAGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCG GGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGG TGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGTCGGCTGCGT TACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGG CTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGG AGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CGGGGGGGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACA GGTGGGCGGG		SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290128	C C	CCGTGTCT others(833): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0253	1	226	0.0044	840	c.166 others(857): Show c.1663-142_1663-141insGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCCCGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCCCCGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SGSM2_chr17_2332501_2386054	2354939	T T	TGGGGAAG others(833): Show TGGGGAAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTT GGGAAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTG GGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGG GAAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGG GCAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGA AAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGCGG AAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGC AGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGGA AGGGACCCCGTATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGGA AGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGCA GGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGCGTTGGGGGAA GGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGCGTTGGGGGAA GGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGCGTTGGGGAAG GGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGCGTTGGGGAAGG GACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGGAAGG GACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGAAGGG ACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0019 a0002c0002t0002g0019	2	298	0.0067	840	c.134 others(857): Show c.134-6689_134-6688insGCCCCATATCTTAGAATGGTGGAATCGG GGTGTAAGGGTTGGGAAAGGGACCCCATATCTTAGAATGGTGGAATCGGG GTGTAAGGGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGG TGTAAGGGTTGGGAAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGT GTAAGGGTTGGGGCAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTG TAAGGGTTGGGAAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGT AAGGGTTGGCGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGT AAGGGTTGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTA AGGGTTGGGGGAAGGGACCCCGTATCTTAGAATGGTGGAATCGGGGTGTA AGGGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTA AGGGTTGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAA GCGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAA GCGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAA GCGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAG CGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGG GTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGG GTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGG TTGGGGGAAGGG		SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23					INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2354939	T T	TGGGGAAG others(833): Show TGGGGAAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTT GGGAAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTG GGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGG GGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGG GCAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGA AAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGCGG AAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGC AGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGGA AGGGACCCCGTATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGGA AGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGCA GGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGCGTTGGGGGAA GGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGCGTTGGGGGAA GGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGCGTTGGGGAAG GGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGCGTTGGGGAAGG GACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGGAAGG GACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGAAGGG ACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00642.hp1 HG00733.hp2 others(70): Show HG00609.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01515.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02055.hp2 HG02109.hp1 HG02135.hp1 HG02145.hp1 HG02280.hp2 HG02615.hp1 HG02723.hp2 HG02818.hp2 HG02922.hp1 HG02965.hp1 HG03017.hp2 HG03041.hp1 HG03195.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp2 NA18939.hp1 NA18943.hp1 NA18968.hp2 NA18971.hp1 NA18983.hp1 NA18995.hp1 NA18998.hp1 NA19009.hp2 NA19084.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0024 a0001c0034 others(3): Show a0001c0001 a0001c0024 a0001c0034 a0002c0002 a0002c0004 a0011c0026	a0001c0001t0001 a0001c0001t0005 a0001c0024t0005 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0024t0005 a0001c0034t0009 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0009 a0002c0004t0006 a0011c0026t0001	a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0094 others(58): Show a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0268 a0001c0001t0001g0358 a0001c0001t0001g0388 a0001c0001t0005g0075 a0001c0024t0005g0077 a0001c0034t0009g0393 a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0027 a0002c0002t0001g0032 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0055 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0061 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0070 a0002c0002t0001g0072 a0002c0002t0001g0074 a0002c0002t0001g0123 a0002c0002t0001g0290 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0330 a0002c0002t0001g0334 a0002c0002t0001g0386 a0002c0002t0002g0026 a0002c0002t0002g0339 a0002c0002t0004g0038 a0002c0002t0004g0337 a0002c0002t0004g0338 a0002c0002t0005g0078 a0002c0002t0009g0277 a0002c0004t0006g0013 a0002c0004t0006g0081 a0011c0026t0001g0343	73	369	0.1978	840	c.134 others(857): Show c.134-6689_134-6688insGCCCCATATCTTAGAATGGTGGAATCGG GGTGTAAGGGTTGGGAAAGGGACCCCATATCTTAGAATGGTGGAATCGGG GTGTAAGGGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGG TGTAAGGGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGT GTAAGGGTTGGGGCAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTG TAAGGGTTGGGAAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGT AAGGGTTGGCGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGT AAGGGTTGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTA AGGGTTGGGGGAAGGGACCCCGTATCTTAGAATGGTGGAATCGGGGTGTA AGGGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTA AGGGTTGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAA GCGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAA GCGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAA GCGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAG CGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGG GTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGG GTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGG TTGGGGGAAGGG		SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23					INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2354939	T T	TGGGGAAG others(833): Show TGGGGAAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTT GGGAAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTG GGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGG GGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGG GCAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGA AAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGCGG AAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGC AGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGGA AGGGACCCCGTATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGGA AGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGCA GGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGCGTTGGGGGAA GGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGCGTTGGGGGAA GGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGCGTTGGGGAAG GGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGAAGG GACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGGAAGG GACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGAAGGG ACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0340 a0002c0002t0014g0340	1	297	0.0034	840	c.134 others(857): Show c.134-6689_134-6688insGCCCCATATCTTAGAATGGTGGAATCGG GGTGTAAGGGTTGGGAAAGGGACCCCATATCTTAGAATGGTGGAATCGGG GTGTAAGGGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGG TGTAAGGGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGT GTAAGGGTTGGGGCAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTG TAAGGGTTGGGAAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGT AAGGGTTGGCGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGT AAGGGTTGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTA AGGGTTGGGGGAAGGGACCCCGTATCTTAGAATGGTGGAATCGGGGTGTA AGGGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTA AGGGTTGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAA GCGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAA GCGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAA GCGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAG GGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGG GTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGG GTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGG TTGGGGGAAGGG		SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23					INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2354939	T T	TGGGGAAG others(833): Show TGGGGAAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTT GGGAAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTG GGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGG GGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGG GCAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGA AAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGCGG AAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGC AGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGGA AGGGACCCCGTATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGGA AGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGCA GGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGCGTTGGGGGAA GGGACCTCATATCTTAGAATGGTGGAATCGGGGTGTAAGCGTTGGGGGAA GGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGCGTTGGGGAAG GGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGCGTTGGGGAAGG GACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGGAAGG GACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGAAGGG ACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTG	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0047 a0002c0002t0018g0047	1	297	0.0034	840	c.134 others(857): Show c.134-6689_134-6688insGCCCCATATCTTAGAATGGTGGAATCGG GGTGTAAGGGTTGGGAAAGGGACCCCATATCTTAGAATGGTGGAATCGGG GTGTAAGGGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGG TGTAAGGGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGT GTAAGGGTTGGGGCAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTG TAAGGGTTGGGAAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGT AAGGGTTGGCGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGT AAGGGTTGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTA AGGGTTGGGGGAAGGGACCCCGTATCTTAGAATGGTGGAATCGGGGTGTA AGGGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTA AGGGTTGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAA GCGTTGGGGGAAGGGACCTCATATCTTAGAATGGTGGAATCGGGGTGTAA GCGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAA GCGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAG CGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGG GTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGG GTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGG TTGGGGGAAGGG		SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23					INFO_REALIGN_3_PRIME	chr17	TogoVar
SLAIN1_chr13_77692687_77769229	77703948	T T	TAAAATAT others(833): Show TAAAATATATATACATATGTTTTATAAGTGTATATATACACATATAAAAT ATATATACATATGTTTTATAAGTGTATATATACACATATAAAATATATAT ACATATGTTTTATATGTGTATATATACACATATAAAATATATATACATAT GTTTTATATGTGTATATATACACATATAAAATATATATACATATGTTTTA TATGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTG TATATATACACATATAAAATATATATACATATGTTTTATATGTATATATA CACATATAAAATATATATACATATGTTTTATATGTGTATATATACACATA TAAAATATATATACATATGTTTTATATGTGTATATATACACATATAAAAT ATATATACATATGTTTTATATGTATATATACATATAAAATATATATACAT ATGTTTTATATGTATATATATACATATAAAATATATATACATATGTTTTA TATGTATATATATACATATAAAATATATATACATATAAAATATATACATA TAAAATATATATGTTTTATATGTATATATACATATAAAATATATATACAT ATGTTTTATATGTATATATATACATATAAAACATATATACATATGTTTTA TATGTATATATACATATAAAACATATATATATGTTTTATATGTATATATA TACATATAAATATATATACATATGTTTTATATGTGTATATATACATAGAA AATATATATAATATATATACATATGTTTTATATGTATATATATACATAGA AAATATATATACATATGTTTTATATGTATATATATACATAG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0151 a0001c0001t0003g0151	1	158	0.0063	840	c.626 others(857): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATATAAAATATATATACAT ATGTTTTATATGTGTATATATACACATATAAAATATATATACATATGTTT TATATGTGTATATATACACATATAAAATATATATACATATGTTTTATATG TGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTATA TATACACATATAAAATATATATACATATGTTTTATATGTATATATACACA TATAAAATATATATACATATGTTTTATATGTGTATATATACACATATAAA ATATATATACATATGTTTTATATGTGTATATATACACATATAAAATATAT ATACATATGTTTTATATGTATATATACATATAAAATATATATACATATGT TTTATATGTATATATATACATATAAAATATATATACATATGTTTTATATG TATATATATACATATAAAATATATATACATATAAAATATATACATATAAA ATATATATGTTTTATATGTATATATACATATAAAATATATATACATATGT TTTATATGTATATATATACATATAAAACATATATACATATGTTTTATATG TATATATACATATAAAACATATATATATGTTTTATATGTATATATATACA TATAAATATATATACATATGTTTTATATGTGTATATATACATAGAAAATA TATATAATATATATACATATGTTTTATATGTATATATATACATAGAAAAT ATATATACATATGTTTTATATGTATATATATACATAGAAAATATATATAC ATATGTTTTATA		SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC6A11_chr3_10811228_10945714	10873407	A A	ATCCTATC others(833): Show ATCCTATCCTATCCTATCCTATCCTATGGCATGCCATCCTACCCTACCCT ATCCTACGCTATCCTATCCTATCCTATGCCATGCCATGCCATGCCATCCT ATCCTATCCTATCCTATCCTATCCTATCCTATCCTATCCTATCCTATGCT ATGCTATCCTATCCTATCCTATCCTATCCTATCCTATCCTATCCTATCCT ATGGCATGCTATCCTACCCTACCCTACCATACCCTACCCTATGCTATCCT ATCCTATCCTATGCCATGCCATCCTATCCTGTCCTATCCTATCCTATCCT ATCCTATCCTATCCTATCCTATCCTATCCTATCCTATGCTATGCTATCCT ATCCTATCCTATGCTATCCTATCCTATCCTATCCTATCCTATCCTATCCT ATCCTATGGCATGCCATCCTACCCTACCCTATCCTACGCTATCCTATCCT ATCCTATGCCATGCCATGCCATGCCATCCTATCCTATCCTATCCTATCCT ATCCTATCCTATCCTATGCTATCCTATCCTATCCTATGCTATCCTATCCT ATCCTATCCTATCCTATCCTATGGCATGCCATCCTACCCTACCCTATCCT ATGCTATCCTATCCTATCCTATGCCATGCCATGCCATGCCATCCTATCCT ATCCTATCCTATCCTATCCTATCCTATCCTATCCTATCCTATGCTATGCT ATCCTATCCTATCCTATGCTATCCTATCCTATCCTATCCTATCCTATCCT ATCCTATCCTATGGCATGCTATCCTACCCTACCCTACCATACCCTACCCT ATGCTATCCTATCCTATCCTATGCCATGCCGTCCTATCCTG	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0355 a0001c0007t0004g0355	1	359	0.0028	840	c.757 others(857): Show c.757-1528_757-1527insGGCATGCCATCCTACCCTACCCTATCCT ACGCTATCCTATCCTATCCTATGCCATGCCATGCCATGCCATCCTATCCT ATCCTATCCTATCCTATCCTATCCTATCCTATCCTATCCTATGCTATGCT ATCCTATCCTATCCTATCCTATCCTATCCTATCCTATCCTATCCTATGGC ATGCTATCCTACCCTACCCTACCATACCCTACCCTATGCTATCCTATCCT ATCCTATGCCATGCCATCCTATCCTGTCCTATCCTATCCTATCCTATCCT ATCCTATCCTATCCTATCCTATCCTATCCTATGCTATGCTATCCTATCCT ATCCTATGCTATCCTATCCTATCCTATCCTATCCTATCCTATCCTATCCT ATGGCATGCCATCCTACCCTACCCTATCCTACGCTATCCTATCCTATCCT ATGCCATGCCATGCCATGCCATCCTATCCTATCCTATCCTATCCTATCCT ATCCTATCCTATGCTATCCTATCCTATCCTATGCTATCCTATCCTATCCT ATCCTATCCTATCCTATGGCATGCCATCCTACCCTACCCTATCCTATGCT ATCCTATCCTATCCTATGCCATGCCATGCCATGCCATCCTATCCTATCCT ATCCTATCCTATCCTATCCTATCCTATCCTATCCTATGCTATGCTATCCT ATCCTATCCTATGCTATCCTATCCTATCCTATCCTATCCTATCCTATCCT ATCCTATGGCATGCTATCCTACCCTACCCTACCATACCCTACCCTATGCT ATCCTATCCTATCCTATGCCATGCCGTCCTATCCTGTCCTATCCTATCCT ATCCTATCCTAT		SLC6A11	ENSG00000132164.10	transcript	ENST00000254488.7	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC6A11_chr3_10811228_10945714	10873417	A A	ATCCTATC others(833): Show ATCCTATCCTATCCTATGGCATGCCATCCTACCCTACCCTATCCTACGCT ATCCTATCCTATCCTATGCCATGCCATGCCATGCCATCCTATCCTATCCT ATCCTATCCTATCCTATCCTATCCTATCCTATCCTATCCTATCCTATGCT ATGCTATCCTATCCTATCCTATCCTATCCTATCCTATCCTATCCTATCCT ATCCTATGGCATGCTATCCTACCCTACCCTACCATACCCTACCCTATGCT ATCCTATCCTATCCTATGCCATGCCATCCTATCCTGTCCTATCCTATCCT ATCCTATCCTATCCTATCCTATCCTATCCTATGCTATGCTATCCTATCCT ATCCTATGCTATCCTATCCTATCCTATCCTATCCTATCCTATCCTATCCT ATGGCATGCCATCCTACCCTACCCTATCCTACGCTATCCTATCCTATCCT ATGCCATGCCATGCCATGCCATCCTATCCTATCCTATCCTATCCTATCCT ATCCTATCCTATCCTATCCTATGCTATGCTATCCTATCCTATCCTATGCT ATCCTATCCTATCCTATCCTATCCTATCCTATGGCATGCCATCCTACCCT ACCCTATCCTATGCTATCCTATCCTATCCTATGCCATGCCATGCCATGCC ATCCTATCCTATCCTATCCTATCCTATCCTATCCTATCCTATCCTATGCT ATGCTATCCTATCCTATCCTATGCTATCCTATCCTATCCTATCCTATCCT ATCCTATCCTATGGCATGCTATCCTACCCTACCCTACCATACCCTACCCT ATGCTATCCTATCCTATCCTATGCCATGCCGTCCTATCCTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0001 a0003c0017t0001	a0003c0017t0001g0203 a0003c0017t0001g0203	1	359	0.0028	840	c.757 others(857): Show c.757-1528_757-1527insGGCATGCCATCCTACCCTACCCTATCCT ACGCTATCCTATCCTATCCTATGCCATGCCATGCCATGCCATCCTATCCT ATCCTATCCTATCCTATCCTATCCTATCCTATCCTATCCTATCCTATCCT ATGCTATGCTATCCTATCCTATCCTATCCTATCCTATCCTATCCTATCCT ATCCTATCCTATGGCATGCTATCCTACCCTACCCTACCATACCCTACCCT ATGCTATCCTATCCTATCCTATGCCATGCCATCCTATCCTGTCCTATCCT ATCCTATCCTATCCTATCCTATCCTATCCTATCCTATGCTATGCTATCCT ATCCTATCCTATGCTATCCTATCCTATCCTATCCTATCCTATCCTATCCT ATCCTATGGCATGCCATCCTACCCTACCCTATCCTACGCTATCCTATCCT ATCCTATGCCATGCCATGCCATGCCATCCTATCCTATCCTATCCTATCCT ATCCTATCCTATCCTATCCTATCCTATGCTATGCTATCCTATCCTATCCT ATGCTATCCTATCCTATCCTATCCTATCCTATCCTATGGCATGCCATCCT ACCCTACCCTATCCTATGCTATCCTATCCTATCCTATGCCATGCCATGCC ATGCCATCCTATCCTATCCTATCCTATCCTATCCTATCCTATCCTATCCT ATGCTATGCTATCCTATCCTATCCTATGCTATCCTATCCTATCCTATCCT ATCCTATCCTATCCTATGGCATGCTATCCTACCCTACCCTACCATACCCT ACCCTATGCTATCCTATCCTATCCTATGCCATGCCGTCCTATCCTGTCCT ATCCTATCCTAT		SLC6A11	ENSG00000132164.10	transcript	ENST00000254488.7	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
SMYD3_chr1_245744347_246512279	245976473	G G	GGCCTAGG others(833): Show GGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGG CCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCC TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGA AAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCA TCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATC GTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CTAGCCCAGGGAAAGCCATCGTCTCTGGCCCAGGGAAAGCCATCGTCTCC AGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCAGCC CAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0146 a0002c0004t0001g0146	1	127	0.0079	840	c.532 others(859): Show c.532-46537_532-46536insTAGAGACGATGGCTTTCCCTGGGCCG GAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCCGGA GACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTAGGCTAGAGA CGATGGCTTTCCCTGGGCTGGAGACGATGGCTTTCCCTGGGCCGGAGACG ATGGCTTTCCCTGGGCTAGAGACGATGGCTTTCCCTGGGCCGGAGACGAT GGCTTTCCCTGGGCTGGAGACGATGGCTTTCCCTGGGCCAGAGACGATGG CTTTCCCTGGGCTAGAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCT TTCCCTAGGCCGGAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTT CCCTAGGCTAGAGACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCC CTAGGCTAGAGACGATGGCTTTCCCTGGGCTAGAGACGATGGCTTTCCCT GGGCCGGAGACGATGGCTTTCCCTGGGCTAGAGACGATGGCTTTCCCTGG GCCGGAGACGATGGCTTTCCCTGGGCTAGAGACGATGGCTTTCCCTAGGC TAGAGACGATGGCTTTCCCTAGGCCGGAGACGATGGCTTTCCCTGGGCTG GAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTAGGCTAGA GACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCCGGAGA CGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCTGGGCCGGAGACG ATGGCTTTCCCTAGGCCGGAGACGATGGCTTTCCCTAGGCTAGAGACGAT GGCTTTCCCTAGGC		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SPIRE2_chr16_89823475_89876319	89852654	G G	GCATCCCA others(833): Show GCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATG GCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTC CGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCT CTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCC AGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATG GCCCGTCTTCCGTCCTCCCTCTCACCCCCCAGATCCCATGGCCCGTCTTC CGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCT CTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCC GCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATG GCCCGTCTTCCGTCCTCCCTCTCACCCCCCAGATCCCATGGCCCGTCTTC CGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCT CTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCC GGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATG GCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTC CGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCT CTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCC GCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	345	0.0029	840	c.646 others(857): Show c.646-1632_646-1631insCATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTT CCGTCCTCCCTCTCACCCCCCAGATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CAGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTT CCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CAGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTT CCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTT CCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCA		SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14						chr16	TogoVar
TERT_chr5_1248167_1300068	1290277	G G	GCACGTGA others(833): Show GCACGTGACAGGGACACCCGGGGGCCGTGCCTCACTCACCCTGCACGTGA CAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGGACA CCTGGGGACCGCGCCTCACTCACCCTGCACGTGACAGGGACACCTGGGGA CAGTGCCTCACTCACCCTACACGTGACAGGGACACCTGGGGACCGCGCCT CACTCACCCTACACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACC CTACACGTGACAGGGACACCCGGGGACGGCACCTCACTCACCCTACACGT GACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGGA CACGCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGG GGCCTCGCGTCAATCACCCTGCACGTGACAGGGACACCCGGGGACAGTGC CTCACTCACCCTACACGTGACAGGGACACCCGGGGACCGCGCCTCACTCA CCCTGAATGTGACAGGGACACCCGGGGACGGGGCCTCACTCACCCTGCAC GTGACAGGGACACCCGGGGACGGCACCTCACTCACCCTACACGTGACAGG GACACCCGGGGACGGCGCCTCACTCACCCTACACGTGACAGGGACACCCG GGGACGGCACCTCACTCACCCTGCACGTGACAGGGACACGCGGGGACGGC GCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGGCCTCGCGTCAAT CACCCTGCACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTAC ACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG04199.hp1 NA20905.hp2 HG00639.hp1 HG04199.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117	3	389	0.0077	840	c.157 others(859): Show c.1573+3035_1573+3036insTAGGGTGAGTGAGGCGCCGTCCCCGG GTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCT GTCACGTGCAGGGTGATTGACGCGAGGCCCCCGGGTGTCCCTGTCACGTG CAGGGTGAGTGAGGCGCCGTCCCCGCGTGTCCCTGTCACGTGCAGGGTGA GTGAGGTGCCGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCG CCGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGTGCCGTCCCC GGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCCCCGTCCCCGGGTGTCC CTGTCACATTCAGGGTGAGTGAGGCGCGGTCCCCGGGTGTCCCTGTCACG TGTAGGGTGAGTGAGGCACTGTCCCCGGGTGTCCCTGTCACGTGCAGGGT GATTGACGCGAGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGG CGCCGTCCCCGCGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCC CCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGTGCCGTCCCCGGGTGT CCCTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCA CGTGTAGGGTGAGTGAGGCGCGGTCCCCAGGTGTCCCTGTCACGTGTAGG GTGAGTGAGGCACTGTCCCCAGGTGTCCCTGTCACGTGCAGGGTGAGTGA GGCGCGGTCCCCAGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGT CCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCACGGCCCCCGGGT GTCCCTGTCACGTG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1290411	C C	CAGAGACA others(833): Show CAGAGACACCCGGGGACAGCACCTCACTCACCCTACACGTGACAGGGACA CCCGGGGACAGTGCCTCACTCACCCTATACCTGGGAGGGACACCCGGGGA CGGTGCCTCACTCACCCTACACGTGACAGGGACACCCTGGGGCCGCGCCT CACTCACCCTACACCTGAGAGGGACACCCGGGGACAGCGCCTCACTCACC CTACACCTGAGAGGGACACCCGGGGACAGTGCCTCACTCACCCTACACGT GACAGGGACACCCGGGGACCGCGCCTCACTCACCCTGCACGTGACAGGGA CACCCGGGGACAGTGCCTCACTCACCCTGCACGTGACAGAGAAACCCGGG GGCCACGCCTCACTCACCCTGCACGGGACAGGGACACCCGGGGACGGCGC CTCACTCACCCTGCACGGGACAGGGACACCCGGGGATGGCGCCTCACTCA CCCTACACGTGACAGGGACACCCGGGGGCCACACCTCAATCACGCTGCAC GGGACAGGGACACCCGGGGACCACGCCTCACTCACCCTACACGTGACAGG GACACCCGGGGATGGCGCCTCACTCACCCTACACGTGACAGGGACACCCG GGGGCCACACCTCAATCACGCTGCACGTGACAGAGACACCCGGGGACGGC GCCTCACTCACCCTACACGTGACAGGGACACCTGGGGACCGCGCCTCACT CACCCTGCACGTGACAGGGACACCTGGGGACAGTGCCTCACTCACCCTAC ACGTGACAGGGACACCTGGGGACCGCGCCTCACTCACCCTGCACGTGACA GGGACACCCGGGGACAGCGCCTCACTCACCCTATACCTGGG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0197 a0001c0017t0002g0197	1	375	0.0027	840	c.157 others(859): Show c.1573+2901_1573+2902insCCCAGGTATAGGGTGAGTGAGGCGCT GTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCGGTCCCCAG GTGTCCCTGTCACGTGTAGGGTGAGTGAGGCACTGTCCCCAGGTGTCCCT GTCACGTGCAGGGTGAGTGAGGCGCGGTCCCCAGGTGTCCCTGTCACGTG TAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCTCTGTCACGTGCAGCGTGA TTGAGGTGTGGCCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCG CCATCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGTGGTCCCC GGGTGTCCCTGTCCCGTGCAGCGTGATTGAGGTGTGGCCCCCGGGTGTCC CTGTCACGTGTAGGGTGAGTGAGGCGCCATCCCCGGGTGTCCCTGTCCCG TGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCCCGTGCAGGGT GAGTGAGGCGTGGCCCCCGGGTTTCTCTGTCACGTGCAGGGTGAGTGAGG CACTGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCGGTCC CCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCACTGTCCCCGGGTGT CCCTCTCAGGTGTAGGGTGAGTGAGGCGCTGTCCCCGGGTGTCCCTCTCA GGTGTAGGGTGAGTGAGGCGCGGCCCCAGGGTGTCCCTGTCACGTGTAGG GTGAGTGAGGCACCGTCCCCGGGTGTCCCTCCCAGGTATAGGGTGAGTGA GGCACTGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGTGCTGT CCCCGGGTGTCTCT		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1290954	T T	TGACAGGG others(833): Show TGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGG ACACCCGGGGGCCGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGG GGACAGTGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACCGCG CCTCACTCACCCTGAACGTGACAGGGACACCCGGGGACCGCGCCTCACTC ACCCTGCACGTGACAGGGACACCCGGGGACCGCGCCTCACTCACCCTGCA CGTGACAGGGACACCCGGGGGCCGCGCCTCACTCACCCTGCACGTGACAG GGACACCCGGGGGCCGCGCCTCACTCACCCTGCACGTGACAGGGACACCC AGGGGCCGTGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGGCCG CGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGGCCGCGCCTCAC TCACCCTGCACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTG CACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGGGAC AGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGGACAC CCGGGGACCGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGGC CGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGGCCGTGCCTC ACTCACCCTGCACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCC TGCACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTG ACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	349	0.0029	840	c.157 others(859): Show c.1573+2358_1573+2359insCCGTGCAGGGTGAGTGAGGCGCCGTC CCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTG TCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTC ACGTGCAGGGTGAGTGAGGCACGGCCCCCGGGTGTCCCTGTCACGTGCAG GGTGAGTGAGGCGCGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTG AGGCGCGGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCG TCCCCGGGTGTCCCTGTCCCGTGCAGGGTGAGTGAGGCGCCGTCCCCGGG TGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTG TCACGTGCAGGGTGAGTGAGGCGCGGCCCCCGGGTGTCCCTGTCACGTGC AGGGTGAGTGAGGCGCGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAG TGAGGCACGGCCCCTGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGC GGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCGGCCCCCG GGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCGGTCCCCGGGTGTCCC TGTCACGTGCAGGGTGAGTGAGGCGCGGTCCCCGGGTGTCCCTGTCACGT TCAGGGTGAGTGAGGCGCGGTCCCCGGGTGTCCCTGTCACGTGCAGGGTG AGTGAGGCACTGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGC GCGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCC CGGGTGTCCCTGTC		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15						chr5	TogoVar
THEG_chr19_356747_381026	376905	G G	GCCCCACC others(833): Show GCCCCACCCAGCCTCTCCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCTC TGTGCCTCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CCTGTGCCCCCACCCAGCCTCTCCCCCCCTGTGCCCCCACCCAGCCTCTC CCCCCCCGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGC CTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCC AGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCA CCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCA CCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCC CACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGC CCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCTGT GCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTC TGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCC CCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCT CTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	319	0.0031	840	c.-93 others(849): Show c.-936_-935insGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAG AGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGC ACAGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGG GCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGT GGGGCACAGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGG GTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCT GGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGG CTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGG CTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAG AGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGG GAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAG GGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACGG GGGGGGAGAGGCTGGGTGGGGGCACAGGGGGGGAGAGGCTGGGTGGGGGC ACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGAG GCACAGAGGGGGAGAGGCTGGGTGGGGGCACGGGGGGGGAGAGGCTGGGT GGGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					880		chr19	TogoVar
TMC6_chr17_78102397_78133755	78115660	G G	GGCGAAGG others(833): Show GGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA GCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCA CAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCG AAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAG GAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAG GGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGG CACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGG CGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0141 a0002c0002t0002g0141	1	403	0.0025	840	c.227 others(859): Show c.2277+1608_2277+1609insTCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCC TGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCA CTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGT GCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCC CACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCT GTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCAC TCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCG CCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTG CCCACTCCCTTCGC		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMC6_chr17_78102397_78133755	78115681	G G	GGCGAAGG others(833): Show GGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAG GGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGG CACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAG CGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0010 a0003c0003t0001g0010	1	408	0.0025	840	c.227 others(859): Show c.2277+1587_2277+1588insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCT CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCT GTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCAC TCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCG CCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTG CCCACTCCCTTCGC		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMEM178B_chr7_141069064_141485380	141337156	C C	CACCACCA others(833): Show CACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCA TCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCAC CACCACCAGCATCACCACCATCACCACCAGCATCACCACCATCACCACCA GCACCACCAGCATCACCACCATCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CAGCATCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCAGCATCACCACCATCACCACCACCACCACCACCATCACCACCAGCATC ACCACCATCACCACCACCATCACCACCACCACCACCACCACCACCACCAT CACCACCACCACCACCACGACCACCACCAGCATCACCACCACGACCACCA CCAGCATCACCACCACGACCACCACCAGCATCACCACCATCACCACCATC ACCACCACCACCACCATCACTACCACCACCACCACCACCACCACCACCAC CAGCACCACCACCATCACCACCACCACCATCACCACCACCACCACCAGCA CCACCATCATCACCACCACCACCACCACCAGCACCACCATCATCACCACC ACCACCACCACCACCACCATCACCACCAGCATCACCACCATCACCACCAC CATCACCACTACCACCACCACCACCATCACCACCACCACCACCACCAGCA TCACCACCATCACCACCATCACCACCACCACCACCATCACT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03209.hp2 HG03486.hp2 HG02258.hp1 HG03209.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0028 a0001c0002t0012 a0001c0001t0009 a0001c0001t0028 a0001c0002t0012	a0001c0001t0009g0020 a0001c0001t0028g0079 a0001c0002t0012g0060 a0001c0001t0009g0020 a0001c0001t0028g0079 a0001c0002t0012g0060	3	36	0.0833	840	c.497 others(861): Show c.497-100451_497-100450insCCACCACCACCACCACCATCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCAC CATCACCACCACCACCACCACCACCACCACCAGCATCACCACCATCACCA CCAGCATCACCACCATCACCACCAGCACCACCAGCATCACCACCATCACC ACCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCACCAGCATCACCACCACCACCACCATCA CCACCACCACCACCACCACCACCACCAGCATCACCACCATCACCACCACC ACCACCACCATCACCACCAGCATCACCACCATCACCACCACCATCACCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCACGACCACCA CCAGCATCACCACCACGACCACCACCAGCATCACCACCACGACCACCACC AGCATCACCACCATCACCACCATCACCACCACCACCACCATCACTACCAC CACCACCACCACCACCACCACCACCAGCACCACCACCATCACCACCACCA CCATCACCACCACCACCACCAGCACCACCATCATCACCACCACCACCACC ACCAGCACCACCATCATCACCACCACCACCACCACCACCACCATCACCAC CAGCATCACCACCATCACCACCACCATCACCACTACCACCACCACCACCA TCACCACCACCACCACCACCAGCATCACCACCATCACCACCATCACCACC ACCACCACCATCACTA		TMEM178B	ENSG00000261115.7	transcript	ENST00000565468.6	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
TMPRSS9_chr19_2355265_2431261	2377604	T T	TCTCCCCT others(833): Show TCTCCCCTCCCCTCTCCCCCCCTCCTCTCTCCCCTCCCCTCTCCCCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTCC TCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCT CTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCC CCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCC CCTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTC CCGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCC CCTCTCCCCTTCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCCTCCCCTA CCCCTACCCCCCCTGCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCC CCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTC TCCCCTCCCCTTCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACCC CTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTCC TCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCCC TCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCACC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	82	0.0122	840	c.-25 others(859): Show c.-25-12157_-25-12156insCTCCCCTCCCCTCTCCCCCCCTCCTC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCC TCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCT CCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTCTC CCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCCT CTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCCT CTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTC CCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCC CCCTCCCCCTTCCCCCTCCCCTACCCCTACCCCCCCTGCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCT CCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCC TCCCCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTTCCCCTTCCCCCC CTCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCC CCCCTCCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCT CTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCACC		TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18						chr19	TogoVar
TOLLIP_chr11_1269371_1314632	1287619	G G	GCCTCCCC others(833): Show GCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCC GCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACC CTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGC CGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCT CCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCG CAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCC CCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCACA CCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCTCT GCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGC CTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGC CGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCT CCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCG CAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCC CCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCA CCCTCTCTGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCC GCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACC CTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	261	0.0038	840	c.519 others(857): Show c.519+1004_519+1005insGTGCGGCGGGGAGGGTGCGGCGGGGAGG CTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCG GGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCT GCGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGG GAGGCTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTGC GGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGA GGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGG CGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCG GGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCT GCGGCGGGGAGGGTGTGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGG GAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGC GGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGA GGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGG CGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCG GGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCT GCGGCGGGGAGG		TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5						chr11	TogoVar
TXNDC16_chr14_52425596_52557505	52530564	T T	TATAATAA others(833): Show TATAATAATATAATATATATTATTATATGTTATTATATATAATAATATAA TATATATTATTATATGTTATTATATATAATAATATAATATATATTATTAT ATGTTATTATATATAATAATATAATATATATTATTATATGTTATTATATA TAATAATATAATATATATTATTATATGTTATTATATATAATAATATATAT TATTATATGTTATTATATATAATAATATATATTATTATATGTTATTATAT ATAATAATATAATATATATTATTATATGTTATTATATATAATAACATATT ATATATTATATGTTATTATATATAATAACATAATATATATTATATGTTAT TATATATAATAACATAATATATATTATATGTTATTATATATAATAACATA ATATATATTATATGTTATTATATATAATAACATAATATATATTATTATAT GTTATTATATATAATAACATAATATATATTATTATATGTTATTATATATA ATAACATAATATATATTATTATATGTTATTATATATAATAATATAATATA TATTATTATATGTTATTATATATAATAATATAATATATATTATTATATGT TATTATATATAATAATATATATTATATTATTATATGTTATTATATATAAT AATATAATATATATTATTATATGTTATTATATATAATAATATAATATATA TTATTATATATTATTTATTATATATAATATATATATAATTATATATATTA TATATTATTATATATAATATATATAATTATATATATTATATATATTATAT ATAATAATAATATATATAATTATATATATTATATATAATAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01257.hp2 HG00642.hp1 HG01257.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0010 a0002c0003t0002g0011 a0002c0003t0002g0010 a0002c0003t0002g0011	2	100	0.0200	840	c.392 others(857): Show c.392+6154_392+6155insTTATTATATATAATATATATAATTATAT ATATTATTATTATATATAATATATATAATATATATAATTATATATATTAT ATATAATAATATATAATATATATAATTATATATATATTATATATAATAAA TAATATATAATAATATATATTATATTATTATATATAATAACATATAATAA TATATATTATATTATTATATATAATAACATATAATAATATAATATATATT ATTATATATAATAACATATAATAATATATATTATATTATTATATATAATA ACATATAATAATATATATTATATTATTATATATAATAACATATAATAATA TATATTATGTTATTATATATAATAACATATAATAATATATATTATGTTAT TATATATAATAACATATAATAATATATATTATGTTATTATATATAATAAC ATATAATATATATTATGTTATTATATATAATAACATATAATATATATTAT GTTATTATATATAATAACATATAATATATATTATGTTATTATATATAATA ACATATAATATATAATATGTTATTATATATAATAACATATAATAATATAT ATTATATTATTATATATAATAACATATAATAATATATATTATTATATATA ATAACATATAATAATATATATTATTATATATAATAACATATAATAATATA TATTATATTATTATATATAATAACATATAATAATATATATTATATTATTA TATATAATAACATATAATAATATATATTATATTATTATATATAATAACAT ATAATAATATATATTATATTATTATATATAATAACATATAATAATATATA TTATATTATTAT		TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20						chr14	TogoVar
UNC13B_chr9_35157009_35410335	35373135	C C	CCCCTGTG others(833): Show CCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAA CTCTCTGGGCTTGGCAGATACATGGGGCCCTGTGCAAGAGTGTGGCTAGC AAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGTGCTTGGCAGATACATG GGGCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTT AACTCTCTGGGCTTGGCAGATACATGGGCCCCTGTGCAAGAGTGTGGCTA GCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGTGCTTGGCAGATACA TGGGGCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGAC TTAACTCTCTGGGCTTGGCAGATACATGGGGCCCTGTGCAAGAGTGTGGC TAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATA CATGGGGCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCA GACTTAACTCTCTGGGCTTGGCAGATACATGGGGCCCTGTGCAAGAGTGT GGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAG ATACATGGGGCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTC TCAGACTTAACTCTCTGGGCTTGGCAGATACATGGGGCCCCTGTGCAAGA GTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTG GCAGATACATGGGGCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCA GCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACATGGGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03209.hp1 HG03471.hp1 others(1): Show HG02109.hp2 HG03209.hp1 HG03471.hp1 NA18906.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0015 a0001c0007t0001g0181 a0001c0007t0001g0182 others(1): Show a0001c0007t0001g0015 a0001c0007t0001g0181 a0001c0007t0001g0182 a0001c0007t0001g0183	4	222	0.0180	840	c.954 others(859): Show c.9541-1859_9541-1020dupTGCTTGGCAGATACATGGGGCCCTGT GCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTG GGCTTGGCAGATACATGGGCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAG CCCCAGCTCTCAGACTTAACTCTCTGTGCTTGGCAGATACATGGGGCCCT GTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTC TGGGCTTGGCAGATACATGGGGCCCTGTGCAAGAGTGTGGCTAGCAAGGC AGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACATGGGGCC CCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACT CTCTGGGCTTGGCAGATACATGGGGCCCTGTGCAAGAGTGTGGCTAGCAA GGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACATGGG GCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTA ACTCTCTGGGCTTGGCAGATACATGGGGCCCCTGTGCAAGAGTGTGGCTA GCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACA TGGGGCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGA CTTAACTCTCTGGGCTTGGCAGATACATGGGGCCCTGTGCAAGAGTGTGG CTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGAT ACATGGGGCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCA GACTTAACTCTCTG		UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	13/39					INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(833): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0158 a0001c0001t0003g0158	1	177	0.0056	840	c.53+ others(855): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTA TCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGA TAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATC TATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGA TAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATA GATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGA TGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATG TATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTA TCTATCGATA		VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23						chr20	TogoVar
ZNF517_chr8_144793913_144815084	144812336	C C	CTGGAAGC others(833): Show CTGGAAGCAAAGGCTGAGACAGGGTGGGAGAGACAGGGACAATAAAGCTC AGCCAGGTGCAGACTGCAGAATGGAAGCAAAGGCTGAGACAGGGTGGGAG AGACACGGACAGTAAAGCTCAGCCAGGTGCAGACTGCAGAATGGAAGCAA AGGCTGAGACAGGGTGGGAGAGACACGGACAGTAAAGCTCAGCCAGGTGC AGACTGCAGAATGGAAGCAAAGGCTGAGACAGGGTGGGAGAGACAGGGAC AATAAAGCTCAGCCAGGTGCAGACTGCAGAATGGAAGCAAAGGCTGAGAC AGGGTGGGAGAGACACGGACAGTAAAGCTCAGCCAGGTGCAGACTGCAGC CTGGAAGCAAAGGCTGAGACAGGGTGGGAGAGACAGGGACAATAAAGCTC AGCCAGGTGCAGACTGCAGAATGGAAGCAAAGGCTGAGACAGGGTGGGAG AGACAGGGACAATAAAGCTCAGCCAGGTGCAGACTGCAGAATGGAAGCAA AGGCTGAGACAGGGTGGGAGAGACACGGACAGTAAAGCTCAGCCAGGTGC AGACTGCAGAATGGAAGCAAAGGCTGAGACAGGGTGGGAGAGACACTGAC AGTAAAGCTCAGCCAGGTGCAGACTGCAGAATGGAAGCAAAGGCTGAGAC AGGGTGGGAGAGACAGGGACAATAAAGCTCAGCCAGGTGCAGACTGCAGA ATGGAAGCAAAGGCTGAGACAGGGTGGGAGAGACACGGACAGTAAAGCTC AGCCAGGTGCAGACTGCAGCCTGGAAGCAAAGGCTGAGACAGGGTGGGAG AGACAGGGACAATAAAGCTCAGCCAGGTGCAGACTGCAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	186	0.0054	840	c.39 others(851): Show c.3941_*3942insTGGAAGCAAAGGCTGAGACAGGGTGGGAGAGACA GGGACAATAAAGCTCAGCCAGGTGCAGACTGCAGAATGGAAGCAAAGGCT GAGACAGGGTGGGAGAGACACGGACAGTAAAGCTCAGCCAGGTGCAGACT GCAGAATGGAAGCAAAGGCTGAGACAGGGTGGGAGAGACACGGACAGTAA AGCTCAGCCAGGTGCAGACTGCAGAATGGAAGCAAAGGCTGAGACAGGGT GGGAGAGACAGGGACAATAAAGCTCAGCCAGGTGCAGACTGCAGAATGGA AGCAAAGGCTGAGACAGGGTGGGAGAGACACGGACAGTAAAGCTCAGCCA GGTGCAGACTGCAGCCTGGAAGCAAAGGCTGAGACAGGGTGGGAGAGACA GGGACAATAAAGCTCAGCCAGGTGCAGACTGCAGAATGGAAGCAAAGGCT GAGACAGGGTGGGAGAGACAGGGACAATAAAGCTCAGCCAGGTGCAGACT GCAGAATGGAAGCAAAGGCTGAGACAGGGTGGGAGAGACACGGACAGTAA AGCTCAGCCAGGTGCAGACTGCAGAATGGAAGCAAAGGCTGAGACAGGGT GGGAGAGACACTGACAGTAAAGCTCAGCCAGGTGCAGACTGCAGAATGGA AGCAAAGGCTGAGACAGGGTGGGAGAGACAGGGACAATAAAGCTCAGCCA GGTGCAGACTGCAGAATGGAAGCAAAGGCTGAGACAGGGTGGGAGAGACA CGGACAGTAAAGCTCAGCCAGGTGCAGACTGCAGCCTGGAAGCAAAGGCT GAGACAGGGTGGGAGAGACAGGGACAATAAAGCTCAGCCAGGTGCAGACT GCAGAA		ZNF517	ENSG00000197363.11	transcript	ENST00000359971.4	protein_coding					2253		chr8	TogoVar
ZNF721_chr4_434988_504156	441934	C C	CTTTGCCA others(833): Show CTTTGCCACATTCTTCACATGTGTAGGGTTTCTCTCCAGTATGAATTCTC CTATGTTTAGTAAGGGTTGTGGAACTAGTAAACGCTTTACCACATTCTAA ACATTTAAAGGGTTTCTCACCTGTATGAATCCTCTTATGTTTAGCAAAGC TTGAGGATGACGTAATGACTTTGCCACATTCCTTACATTTGTAGGGTTTC TTTCCAGTATGAATTTTCTCATGTCTATTCAGGTGTGAGGACTGTTTAAA CACTTTCCCACATTCTTTACATTTGTAGAGTTTATCTCCAGTATGAATTT TCTTATATTCGTTCAGGTTTGTGGACCATCCAAAGGATCTGCCACGATCT TCACATTTGTAGGGTTTCTCCCTAGTGTGAACTCTCCTATGTGTAGTAAG GTTTCTTGACCTACTAAAGGCTTTGCCACACTCTTCACATTTGTAAGGTT TTTCTCCAGTATGAATTTTCTTGTGTTGATTCAGGGCTATGGACCATCCA AAGGCTTTGCCACACTCTTCACATTTGTAACTTTGCTCTCCAGTAAGAAT TTTCGTGTGTTGATTCAGGTCTGTTGATGGGGCAAAGGCTTTGCCACACT CTTCACATTTGTAAGGTTTCTCCCCAGTGTAAATTTTCTTCTGTTGATTC AGGTCCGTGTACCATACAAAGTCTTTGCCACACTCTTCACATTTGTAAAG TTTCTCTCCAGTATGAATTTTCTTGTGTTGATTCAGGTCTGTGTACCGTC CAAAGGCTTTGCCACACTCTTCACATTTGTAAGGTTTCTCTCCAGTATGA ATTCTCCTATGTACATAAAGGTTTGCGGACTGTCTAAAGGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02280.hp1 HG02280.hp1	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0004 a0011c0018t0004	a0011c0018t0004g0191 a0011c0018t0004g0191	1	322	0.0031	840	c.169 others(849): Show c.1693_2532dupACCTTTAGACAGTCCGCAAACCTTTATGTACATAGG AGAATTCATACTGGAGAGAAACCTTACAAATGTGAAGAGTGTGGCAAAGC CTTTGGACGGTACACAGACCTGAATCAACACAAGAAAATTCATACTGGAG AGAAACTTTACAAATGTGAAGAGTGTGGCAAAGACTTTGTATGGTACACG GACCTGAATCAACAGAAGAAAATTTACACTGGGGAGAAACCTTACAAATG TGAAGAGTGTGGCAAAGCCTTTGCCCCATCAACAGACCTGAATCAACACA CGAAAATTCTTACTGGAGAGCAAAGTTACAAATGTGAAGAGTGTGGCAAA GCCTTTGGATGGTCCATAGCCCTGAATCAACACAAGAAAATTCATACTGG AGAAAAACCTTACAAATGTGAAGAGTGTGGCAAAGCCTTTAGTAGGTCAA GAAACCTTACTACACATAGGAGAGTTCACACTAGGGAGAAACCCTACAAA TGTGAAGATCGTGGCAGATCCTTTGGATGGTCCACAAACCTGAACGAATA TAAGAAAATTCATACTGGAGATAAACTCTACAAATGTAAAGAATGTGGGA AAGTGTTTAAACAGTCCTCACACCTGAATAGACATGAGAAAATTCATACT GGAAAGAAACCCTACAAATGTAAGGAATGTGGCAAAGTCATTACGTCATC CTCAAGCTTTGCTAAACATAAGAGGATTCATACAGGTGAGAAACCCTTTA AATGTTTAGAATGTGGTAAAGCGTTTACTAGTTCCACAACCCTTACTAAA CATAGGAGAATTCATACTGGAGAGAAACCCTACACATGTGAAGAATGTGG CAAA	p.Lys others(853): Show p.Lys844_Ala845insThrPheArgGlnSerAlaAsnLeuTyrValHi sArgArgIleHisThrGlyGluLysProTyrLysCysGluGluCysGlyL ysAlaPheGlyArgTyrThrAspLeuAsnGlnHisLysLysIleHisThr GlyGluLysLeuTyrLysCysGluGluCysGlyLysAspPheValTrpTy rThrAspLeuAsnGlnGlnLysLysIleTyrThrGlyGluLysProTyrL ysCysGluGluCysGlyLysAlaPheAlaProSerThrAspLeuAsnGln HisThrLysIleLeuThrGlyGluGlnSerTyrLysCysGluGluCysGl yLysAlaPheGlyTrpSerIleAlaLeuAsnGlnHisLysLysIleHisT hrGlyGluLysProTyrLysCysGluGluCysGlyLysAlaPheSerArg SerArgAsnLeuThrThrHisArgArgValHisThrArgGluLysProTy rLysCysGluAspArgGlyArgSerPheGlyTrpSerThrAsnLeuAsnG luTyrLysLysIleHisThrGlyAspLysLeuTyrLysCysLysGluCys GlyLysValPheLysGlnSerSerHisLeuAsnArgHisGluLysIleHi sThrGlyLysLysProTyrLysCysLysGluCysGlyLysValIleThrS erSerSerSerPheAlaLysHisLysArgIleHisThrGlyGluLysPro PheLysCysLeuGluCysGlyLysAlaPheThrSerSerThrThrLeuTh rLysHisArgArgIleHisThrGlyGluLysProTyrThrCysGluGluC ysGlyLys	ZNF721	ENSG00000182903.16	transcript	ENST00000511833.3	protein_coding	3/3	2726/4673	2532/2772	844/923			chr4	TogoVar
ABCC1_chr16_15944616_16148053	15999866	C C	CCTTCCTT others(834): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	209	0.0048	841	c.49- others(856): Show c.49-7950_49-7949insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCT		ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30						chr16	TogoVar
ADPRHL1_chr13_113394611_113458488	113412913	C C	CGCCCCGC others(834): Show CGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAGTGCCCCGGAGGCTCA GTTCACCCACCGCCAACAGTGCCCCGCGGAGCTCGGTTCACCCACCGCCA ACAGCGCCCCGCAGAACTCGGTTCACCCACCGCCAACAGCGCCCCGCAGA GCTCGGTTCACCCACCGCCAACAGCGCCCCGCAGAACTCGGTTCACCCAC CGCCAACAGTGCCCCGCGGAGCTCGGTTCACCCACCGCCAACAGCGCCCC GCAGAACTCGGTTCACCCACCGCCAACAGTGCCCCGCGGAGCTCGGTTCA CCCACCGCCAACAGCGCCCCGCAGAACTCGGTTCACCCACCGCCAACAGC GCCCCGCAGAACTCGGTTCACCCACCGCCAACAGTGCCCCGCAGAGCTCG GTTCACCCACCGCCAACAGCGCCCCGCAGAACTCGGTTCACCCACCGCCA ACAGCGCCCCGCAGAACTCGGTTCACCCACCGCCAACAGCGCCCCACGGA GGCTCGGTTCACCCACCGCCAACAGCGCCCCGCAGAACTCGGTTCACCCA CCGCCAACAGCGCCCCGCAGAACTCGGTTCACCCACCGCCAACAGTGCCC CGCAGAGCTCGGTTCACCCACCGCCAACAGCGCCCCGCAGAACTCGGTTC ACCCACCGCCAACAGCGCCCCGCAGAACTCGGTTCACCCACCGCCAACAG CGCCCCACGGAGGCTCGGTTCACCCACCGCCAACAGCGCCCCGCAGAACT CGGTTCACCCACCGCCAACAGCGCCCCGCAGAACTCGGTTCACCCACCGC CAACAGCGCCCCGCAGAACTCGGTTCACCCACCGCCAACAGT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0028 a0002c0008t0028	a0002c0008t0028g0196 a0002c0008t0028g0196	1	218	0.0046	841	c.106 others(860): Show c.1062-4694_1062-4693insACTGTTGGCGGTGGGTGAACCGAGTT CTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGTTCTGCGGGGCGCTGTT GGCGGTGGGTGAACCGAGTTCTGCGGGGCGCTGTTGGCGGTGGGTGAACC GAGCCTCCGTGGGGCGCTGTTGGCGGTGGGTGAACCGAGTTCTGCGGGGC GCTGTTGGCGGTGGGTGAACCGAGTTCTGCGGGGCGCTGTTGGCGGTGGG TGAACCGAGCTCTGCGGGGCACTGTTGGCGGTGGGTGAACCGAGTTCTGC GGGGCGCTGTTGGCGGTGGGTGAACCGAGTTCTGCGGGGCGCTGTTGGCG GTGGGTGAACCGAGCCTCCGTGGGGCGCTGTTGGCGGTGGGTGAACCGAG TTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGTTCTGCGGGGCGCTG TTGGCGGTGGGTGAACCGAGCTCTGCGGGGCACTGTTGGCGGTGGGTGAA CCGAGTTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGTTCTGCGGGG CGCTGTTGGCGGTGGGTGAACCGAGCTCCGCGGGGCACTGTTGGCGGTGG GTGAACCGAGTTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCCG CGGGGCACTGTTGGCGGTGGGTGAACCGAGTTCTGCGGGGCGCTGTTGGC GGTGGGTGAACCGAGCTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAG TTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCCGCGGGGCACTG TTGGCGGTGGGTGAACTGAGCCTCCGGGGCACTGTTGGCGGTGGGTGAAC CGAGCTCTGCGGGGC		ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7						chr13	TogoVar
ARHGAP19_chr10_97217179_97297637	97251782	A A	AAGATGAA others(834): Show AAGATGAAGGGGAAGGGAGAAGAGGAAGGAAAGGGAGGGATGGGAAGGGA AGGGGAAGGGAAGGGAAGGTGGAGGGAAGGGGTGGGGGAAGGGGAAGGTG GAAGGGGATGGGAAGGGGAAGGAAGGGATGGGAAGGGGAGTAGGGGAAGG GGAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGTAAGGGAAGGGGAAAGG GAAGGGAAAGGGAAGGGGAAAGGGAGGGAAGGGGAAGGGAAGGGAAAGGA GGGAAGGGAAGGGAAAGGGAAGGGAAGGGAAGGGAATGGAAGGGAAAGGG AAGGGGAAGGGGAAGGGAAGGGGAAAAGGCGGAAGGGGAAGGGGAAAGGG GAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGGGGAAGGGGA AGGGAATGGAAGGGATGGGGAATGGGAAGGGAAGGATGGGAAGGGAAGGG AGGGAAGGGAAGGGAAGGGGAAAGGGATGAAGGGAAGGGAAGGGATGGGA AGGGAGGAAGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAAGGA AGGGAAGGGATGGTTGGGGTTGTCGTTTGTCGTTGGTTTCGGGTGGCGGT TGGTTTGTTGGGGAAGGAAGGGAAGGGGAAGGGTAGGGGGGGGTGGGAGT GAAGGGGTAGCAAAGGAAAGAAAGGAAAGGGAAAGGAAGAGAGGGAGGGA GGGGAGGGAGGAGGGAAGGAAGGGATGGACGGAAGGACGAAAAAAGGAGA GGGGACGGGAAGAGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGA GGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0029 a0001c0002t0002g0029	1	237	0.0042	841	c.927 others(858): Show c.927+4535_927+4536insCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTTCCCTCCCTTCCCTTTTTCTTCTCTTCCCTCCCCTCCCCT CTCTTCCCGTCCCCTCTCCTTTTTTCGTCCTTCCGTCCATCCCTTCCTTC CCTCCTCCCTCCCCTCCCTCCCTCTCTTCCTTTCCCTTTCCTTTCTTTCC TTTGCTACCCCTTCACTCCCACCCCCCCCTACCCTTCCCCTTCCCTTCCT TCCCCAACAAACCAACCGCCACCCGAAACCAACGACAAACGACAACCCCA ACCATCCCTTCCCTTCCTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCC TTCCCTTCCTCCCTTCCCATCCCTTCCCTTCCCTTCATCCCTTTCCCCTT CCCTTCCCTTCCCTCCCTTCCCTTCCCATCCTTCCCTTCCCATTCCCCAT CCCTTCCATTCCCTTCCCCTTCCCCCCCTTCCCTTCCCCTTCCCTTCCCC TTCCCTTCCCCTTCCCCTTTCCCCTTCCCCTTCCGCCTTTTCCCCTTCCC TTCCCCTTCCCCTTCCCTTTCCCTTCCATTCCCTTCCCTTCCCTTCCCTT TCCCTTCCCTTCCCTCCTTTCCCTTCCCTTCCCCTTCCCTCCCTTTCCCC TTCCCTTTCCCTTCCCTTTCCCCTTCCCTTACCCTTCCCTTCCCTTCCCT TCCCCTTCCCTTCCCCTTCCCCTACTCCCCTTCCCATCCCTTCCTTCCCC TTCCCATCCCCTTCCACCTTCCCCTTCCCCCACCCCTTCCCTCCACCTTC CCTTCCCTTCCCCTTCCCTTCCCATCCCTCCCTTTCCTTCCTCTTCTCCC TTCCCCTTCATCT		ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11						chr10	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(834): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTT TTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18960.hp1 NA19062.hp2 HG02165.hp1 NA18960.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0197 a0001c0001t0002g0254 a0001c0001t0004g0169 a0001c0001t0002g0197 a0001c0001t0002g0254 a0001c0001t0004g0169	3	40	0.0750	841	c.248 others(858): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATG CTGGAGTGCAGTG		CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(834): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTT TTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03239.hp1 HG01346.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0252 a0001c0001t0002g0240 a0001c0001t0002g0252	2	39	0.0513	841	c.248 others(858): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATG CTGGAGTGCAGTG		CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(834): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAA AGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGT TATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAA TTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGA AAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGAC AAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAA TATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTG GACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGT TTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGA AGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATA TATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGA TATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAAT ACATCCATACTATATATATATATATATATATATATATATATATATATATA TATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTT TTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0030 a0007c0008t0030	a0007c0008t0030g0042 a0007c0008t0030g0042	1	38	0.0263	841	c.248 others(858): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAA CTTCTTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGA ACATTCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGA TGAAGAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACAC CACAAAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATG ACAGATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAA AAGATTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGT GAAATACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTG AGAATGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCT AGAGTAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGA ACCTCCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTC AAATAATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAAT ATTCATGGGCAATACATCCATACTATATATATATATATATATATATATAT ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATG CTGGAGTGCAGTG		CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
DOCK1_chr10_126900428_127457516	126948223	G G	GGTTGGTA others(834): Show GGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACT GTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTT GGTAGTATTACTGTTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTG GTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTG GTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGG TGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGT TGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTT GGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTG GTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTG TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTAC TGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGT GGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGT ATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGATG GTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTA TTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGG TGGTAGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0065 a0001c0065	a0001c0065t0001 a0001c0065t0001	a0001c0065t0001g0045 a0001c0065t0001g0045	1	129	0.0078	841	c.47- others(858): Show c.47-22423_47-22422insATGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTTGGTA GTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGG TGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGG TAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGT GGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTT GGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGT TGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGT GGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACT GTTGGTGGTGATGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTG GTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTA CTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGG TGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTAC TGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGGTGGT GGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGT ATTACTGTTGGTG		DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51					INFO_REALIGN_3_PRIME	chr10	TogoVar
DPEP1_chr16_89608642_89643433	89619597	T T	TCCCCTCC others(834): Show TCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTG CCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCACT CCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCAT GCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCTGCTCCCCTCCC TGCAGCTCCATGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCT GCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCC ATGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTC CCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCC CCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCGCTCCCCTCCCTGCAG CCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCC CCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGC CCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCCTGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCT CCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCT GCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCT GCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	235	0.0043	841	c.-10 others(860): Show c.-107+5882_-107+5883insTCCCTGCAGCTCCATGCCCCCCGCTC CCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGC CCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGC AGCCCCCTGCCCCCCCACTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCT CCCCTCCCTGCAGCTCCATGCCCCCCCTGCTCCCCTCCCTGCAGCTCCAT GCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCCTGCTCCCCTCCC TGCAGCTCCATGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCG CTCCCCTCCCTGCAGCTCCATGCCCCCCCTGCTCCCCTCCCTGCAGCTCC CTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCC CTGCAGCTCCATGCCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCC CCCGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTGCAG CCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCC CCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGC AGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCT CCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTG CCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTG CAGCCCCCTGCCCCC		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634795	C C	CCCTTTCC others(834): Show CCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCCCTTTCCCCTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCC TCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CCCTTTCCCCTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCCCTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCT TCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCT TTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	237	0.0042	841	c.105 others(858): Show c.105-1113_105-1112insCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTCCTTCTCCT TTCCCTTCCTTCCCTTTCCCCTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTCCTTCTCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTCCCTTCCTTCC CTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTC CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCC TTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTC CTTTCCCTTCCTT		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10						chr16	TogoVar
DPEP1_chr16_89608642_89643433	89635168	T T	TCCCTTCC others(834): Show TCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCT TCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC CCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCT TCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCC TTCTCCTTTCCCCTCCTTCTCCTTTCCCCTCCTTCTTCTTTC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	215	0.0047	841	c.105 others(856): Show c.105-730_105-729insCCTTTCCCTTCCTTCCCTTTCCCTTCCTTC CCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTT TCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTT CCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCT TTCCCTTCCTTCTCCTTTCCCCTCCTTCTCCTTTCCCCTCCTTCTTCTTT CCCCTTCCTTC		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
DPP6_chr7_154047398_154899285	154779089	C C	CTCTACCA others(834): Show CTCTACCACCACCACCACCACCATCACCTCCACCACCACCACCACAACCA CCCCCACCATCACCTCCAAAACCTCCACCACCAGCACCACCACCATCACT TCCACCACCACCACCACAACTACCCCCGCCATCACCTCCATCACCTCCAC AACCTCTACCACCACCACCACCATCATCACCTCCACCACCATCACCACTA TCACCACCAACCCATCATCACCACCTCCACCACCACCACCATCACCCCCC CATCACCTCCACCACCACCACCACAACCACCCCACCATCACCTCCATCAC CTCCACAATCTCCACCGCCAGCATCACCACCATCACCACCACCACCACCA CAACTACCCCCACCATCACCTCCATCACCTCCACAACCTCTACCACCACC ACCACCATCATCACCTCCACCACCATCACCACTATCACCACCAACCCATC ATCACCACCTCCACCACCACCACCATCACCCCCCCATCACCTCCACCACC ACCACAACCACCCCACCATCACCTCCATCACCTCCACAATCTCCACCGCC AGCATCACCACCATCACCACCACCACCACCACAACTACCCCCACCATCAC CTCCATCACCTCCACGACCACCACCACCATCATCACCTCCACCACCATCA CCACTATCACCACCAACCCATCATCACCACCTCCACCACCACCACCATCA CCCCCACCGTCACCTCCACCACCACCTCCATTACCTCCACAACTTCTACC ACCACCACCCCCACCACCACCAGCACCACTATCACCACTATCACCACCAC CCCCACCATCACCTCCACACCACCTCCATTACCTCCACAATT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0003 a0001c0011t0003	a0001c0011t0003g0013 a0001c0011t0003g0013	1	2	0.5000	841	c.113 others(860): Show c.1136+6165_1136+6166insACCATCACCTCCACCACCACCACCAC AACCACCCCCACCATCACCTCCAAAACCTCCACCACCAGCACCACCACCA TCACTTCCACCACCACCACCACAACTACCCCCGCCATCACCTCCATCACC TCCACAACCTCTACCACCACCACCACCATCATCACCTCCACCACCATCAC CACTATCACCACCAACCCATCATCACCACCTCCACCACCACCACCATCAC CCCCCCATCACCTCCACCACCACCACCACAACCACCCCACCATCACCTCC ATCACCTCCACAATCTCCACCGCCAGCATCACCACCATCACCACCACCAC CACCACAACTACCCCCACCATCACCTCCATCACCTCCACAACCTCTACCA CCACCACCACCATCATCACCTCCACCACCATCACCACTATCACCACCAAC CCATCATCACCACCTCCACCACCACCACCATCACCCCCCCATCACCTCCA CCACCACCACAACCACCCCACCATCACCTCCATCACCTCCACAATCTCCA CCGCCAGCATCACCACCATCACCACCACCACCACCACAACTACCCCCACC ATCACCTCCATCACCTCCACGACCACCACCACCATCATCACCTCCACCAC CATCACCACTATCACCACCAACCCATCATCACCACCTCCACCACCACCAC CATCACCCCCACCGTCACCTCCACCACCACCTCCATTACCTCCACAACTT CTACCACCACCACCCCCACCACCACCAGCACCACTATCACCACTATCACC ACCACCCCCACCATCACCTCCACACCACCTCCATTACCTCCACAATTTCT ACCACCACCACCACC		DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	10/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
IFNAR1_chr21_33319970_33364864	33322442	A A	ATATATAT others(834): Show ATATATATATGGAATATATATGGAATATATATATGGAATATATATATGGA ATATATATATGGAATATATATATGGAATATATATATGGAATATATATATA TGTGGAATATATATATGGAATATATATATATGTGGAATATATATATGGAA TATATATATGGAATATATACATGGAATATATGTATATGGAATATATACAT GGAATATATGTATATGGAATATATACATGGAATATGTGTATATGGAATAT ATACATGGAATATGTGTATATGGAATATATACATGGAATATATATATGGA ATATATACATGGAATATATATATGGAATATATACATGGAATATATATATA TGGAATATATACATGGAATATATATATATGGAATATATACATGGAATATA TATATATGGAATATATACATGGAATATATATATATGGAATATATACATGG AATATATATATATAGAATATATACATGGAATATATATATGGAATATATAC ATGGAATATATATATATGGAATATATACATGGAATATATACATGGAATAT ATACATGGAACATATACATGGAATATATACATGGAACATATACATGGAAT ATATATATATGGAACATATACGGAATATATATATGGAATATATATACGGA ATATATATATATGGAATATATATACGGAATATATATATGGAATATATATA CGGAATATATATATATGGAATATATATACGGAATATATATATATGGAATA TATATACGGAATATATATATGGAATATATATATGGAATATGTATATGGAA TATATATATATGGAATATGTATATGGAATATATATATGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	191	0.0052	841	c.-26 others(852): Show c.-2614_-2613insTATATATATGGAATATATATGGAATATATATATG GAATATATATATGGAATATATATATGGAATATATATATGGAATATATATA TGGAATATATATATATGTGGAATATATATATGGAATATATATATATGTGG AATATATATATGGAATATATATATGGAATATATACATGGAATATATGTAT ATGGAATATATACATGGAATATATGTATATGGAATATATACATGGAATAT GTGTATATGGAATATATACATGGAATATGTGTATATGGAATATATACATG GAATATATATATGGAATATATACATGGAATATATATATGGAATATATACA TGGAATATATATATATGGAATATATACATGGAATATATATATATGGAATA TATACATGGAATATATATATATGGAATATATACATGGAATATATATATAT GGAATATATACATGGAATATATATATATAGAATATATACATGGAATATAT ATATGGAATATATACATGGAATATATATATATGGAATATATACATGGAAT ATATACATGGAATATATACATGGAACATATACATGGAATATATACATGGA ACATATACATGGAATATATATATATGGAACATATACGGAATATATATATG GAATATATATACGGAATATATATATATGGAATATATATACGGAATATATA TATGGAATATATATACGGAATATATATATATGGAATATATATACGGAATA TATATATATGGAATATATATACGGAATATATATATGGAATATATATATGG AATATGTATATGGAATATATATATATGGAATATGTATATGGAATATATAT ATGGAAT		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					2527		chr21	TogoVar
LAMC1_chr1_183018420_183150592	183149722	C C	CCTCACAC others(834): Show CCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCCC ACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACA CACCACACAGCCCACACCCCTCTCCTCACACACCAGACAGCTCACACCCC TCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACCACA CAGCTCACATCCCTCTCCTCACACACCACACAGCTCACACCCCTGTCCTC CTCACACACCACACAGCCCACACCCCTCCTCACACACCACACAGCTCACA CCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCCTCACA CACCACACAGCTCACACCCCTCTCCTCCTCACACACCACACAGCTCACAC CCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACT ACACAGCTCACACCCCTCTCCTCCTCACACCACACAGCTCACACCCCTCT CCTCCTCACACACCACACAGCTCACACCCCTCTCCTCCTCACACACCACA CAGCTCACACCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTG CTCACACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCCCA CACCCCTCTCCTCCTCACACACCACACAGCCCACACCCCTCTCCTCCTCA CACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCCCACACCCC TCTCCTCCTCACACCACACAGCTCACACCCCTCTCCTCACACACCACACA GCTCACACCCCTCTCCTCACACACCACACAGCTCACATCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0242 a0003c0004t0005g0242	1	300	0.0033	841	c.69 others(852): Show c.6932_*6933insCTCACACACCACACAGCTCACATCCCTCTCCTCA CACACCACACAGCCCACACCCCTCTCCTCCTCACACACCACACAGCTCAC ACCCCTCTCCTCACACACCACACAGCCCACACCCCTCTCCTCACACACCA GACAGCTCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTC TCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCT CACACCCCTGTCCTCCTCACACACCACACAGCCCACACCCCTCCTCACAC ACCACACAGCTCACACCCCTCTCCTCCTCACACACCACACAGCTCACACC CCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCCTCACACA CCACACAGCTCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCC CTCTCCTCACACACTACACAGCTCACACCCCTCTCCTCCTCACACCACAC AGCTCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCC TCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCT CACACCCCTCTCCTGCTCACACACCACACAGCTCACACCCCTCTCCTCAC ACACCACACAGCCCACACCCCTCTCCTCCTCACACACCACACAGCCCACA CCCCTCTCCTCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCA CACAGCCCACACCCCTCTCCTCCTCACACCACACAGCTCACACCCCTCTC CTCACACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCTCA CATCCCT		LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding					4131		chr1	TogoVar
LHFPL3_chr7_104323603_104913561	104824160	A A	ATATATTA others(834): Show ATATATTATATATATATATTATAATATATATATATATATATATTAATATA TTATATATATATAATATATATATTATATATTATATATATATATATATATA TATAATTATATATTATAATAATATTATTATATATAATATTATTATATATA TTATATTTATATATTATATATTATATATATAATTATATTATATATTATAT ATATTATATAATATATTATATATTATATATATATTATATTATAATTATAT ATAATTTATATATATTTTATATATTTATATATTATATATTATATATATTA TATATATTATATATTATATATTATATATATTATATATTATATATATGTAT ATATTATATTTTATATATATTATATATTATATTATATATACAATTATATA TATTATATATATTATATATTATATATATTATATATTATATAATATATAAT ATATAATATATATTATATATTATATATTATATAATATATATATAATATAT TATATATTATATATTATATAATATATTATATATAATATATATTATATATT ATATATTATATAATATATAATATATAATATATATTATATATATATTATAT AATATATTATATATATAATATATTATATAATATATTATATATATAATATA TATTATATATAATATATATAATTGTATATATAATATATAATATATAATAT ATAATATATATAATATATAATATATAATATATATAATATATAATATATAA TATATAATATATATAATATATAATATATAATATATAATATATAATATATA ATATATAATATATAAAATATATATATAAAATATATTATGTAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	1	86	0.0116	841	c.683 others(860): Show c.683-82022_683-82021insTATATATATATATTATAATATATATA TATATATATATTAATATATTATATATATATAATATATATATTATATATTA TATATATATATATATATATATAATTATATATTATAATAATATTATTATAT ATAATATTATTATATATATTATATTTATATATTATATATTATATATATAA TTATATTATATATTATATATATTATATAATATATTATATATTATATATAT ATTATATTATAATTATATATAATTTATATATATTTTATATATTTATATAT TATATATTATATATATTATATATATTATATATTATATATTATATATATTA TATATTATATATATGTATATATTATATTTTATATATATTATATATTATAT TATATATACAATTATATATATTATATATATTATATATTATATATATTATA TATTATATAATATATAATATATAATATATATTATATATTATATATTATAT AATATATATATAATATATTATATATTATATATTATATAATATATTATATA TAATATATATTATATATTATATATTATATAATATATAATATATAATATAT ATTATATATATATTATATAATATATTATATATATAATATATTATATAATA TATTATATATATAATATATATTATATATAATATATATAATTGTATATATA ATATATAATATATAATATATAATATATATAATATATAATATATAATATAT ATAATATATAATATATAATATATAATATATATAATATATAATATATAATA TATAATATATAATATATAATATATAATATATAAAATATATATATAAAATA TATTATGTATTATAT		LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
LHFPL3_chr7_104323603_104913561	104824184	A A	AATATATA others(834): Show AATATATATATTATATATTATATATTATATATATAATATATATATTATAT ATTATATATTATATATATTATATATTATATATTATATTATATATTATATA TATAATATATTATATATTATATATATATTATATAATTTATATATTATATA TATTATATAATATATTATATATATAATTATATATATTTTATATATTATAT ATTATATATTATATATATTATATATTATATATAATATATTATATATTATA TATTATATATATTATATATTATATATTATATATTATATATATTATATATT ATATATTATATATTATATATTATATATTATATATATTATATATTATATAT TATATATTATATATATTATATATTATATATTATATATATTATATATTATA TATTATATATACAATTATATATATTATATATATTATATATTATATATATT ATATATTATATAATATATATAATATATATAATATATATTATATATTATAT AATATATAATATATTATATATATAATATATATTATATATTATATATTATA TATTATATATAATATATTATATAATATATTATATATTATATATTATATAT TATATATTATATATTATATAATATATTATATATAATATATATTATATATA TTATATAATATATTATATATAATATATATTATAATTATATATTATATAAT ATATAATATATATAATATATTATATATATAATATATATTATATATTATAT ATTATATAATATAATATATAATATATATTATATATTATATACAATATATT ATATATTATATACATTATATATTATATACATTATATATAATT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0063 a0001c0001t0011g0063	1	65	0.0154	841	c.683 others(860): Show c.683-81995_683-81994insATTATATATTATATATTATATATATA ATATATATATTATATATTATATATTATATATATTATATATTATATATTAT ATTATATATTATATATATAATATATTATATATTATATATATATTATATAA TTTATATATTATATATATTATATAATATATTATATATATAATTATATATA TTTTATATATTATATATTATATATTATATATATTATATATTATATATAAT ATATTATATATTATATATTATATATATTATATATTATATATTATATATTA TATATATTATATATTATATATTATATATTATATATTATATATTATATATA TTATATATTATATATTATATATTATATATATTATATATTATATATTATAT ATATTATATATTATATATTATATATACAATTATATATATTATATATATTA TATATTATATATATTATATATTATATAATATATATAATATATATAATATA TATTATATATTATATAATATATAATATATTATATATATAATATATATTAT ATATTATATATTATATATTATATATAATATATTATATAATATATTATATA TTATATATTATATATTATATATTATATATTATATAATATATTATATATAA TATATATTATATATATTATATAATATATTATATATAATATATATTATAAT TATATATTATATAATATATAATATATATAATATATTATATATATAATATA TATTATATATTATATATTATATAATATAATATATAATATATATTATATAT TATATACAATATATTATATATTATATACATTATATATTATATACATTATA TATAATTATATATAT		LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
LINGO2_chr9_27932617_29218601	28189533	G G	GAGGAAGG others(834): Show GAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGGA GGGAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGG GAGGAAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGAAGGGAGGGA GGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGG GAGGGAGGGAGGAAGGGAGGGAGGAAGGAAGGAAGGAAGGGAGGGAGGAA GGAAGGGAGGGAGGAAGGGAGGGAGGAAGGGAGGGAGGAAGGAAGGGAGG AGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGAAG GGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGG AGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAG GGAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGG AGGGAGGAAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAG GGAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGAGGG AGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAG GAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGAAGGAAGGGAGGAAGGAG GGAGGCAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGA AGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAAG GGAGGGAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0050 a0002c0002t0001g0050	1	36	0.0278	841	c.-36 others(862): Show c.-36+105674_-36+105675insTCCTTCCTCCCTCCCTTCCTTCCT CCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCC CTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCT TCCTTCCTCCCTGCCTCCCTCCTTCCTCCCTTCCTTCTTCCTCCCTCCCT TCCTTCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTC CTTCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCT CCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTC CTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCT TCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCC CTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCT CCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCC CTCCCTTCCTTCCTTCCTCCTCCCTTCCTTCCTCCCTCCCTTCCTCCCTC CCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTTCCTCCC TCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTC CCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCC TTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTC CCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTCCC TCCCTTCCTTCCTTCCT		LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6						chr9	TogoVar

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