Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(708): Show GTATATATACATGTATATATATACAAGTATATATACATGTATATATATAC GTATATATATATACTTGTATACATATATACTATATATATACATATATACA CATATATACGTATATATGTGTATATATACATATATACATGTATATACGTA TATACATGTATATACGTATATATACACGTATATATACATGTATATATACG TATATATACACATATATACATGTATATATACGTGTATATATACACATATA TACGTGTATATATACGTATATATACACATATATACGTGTATATATACGTA TATATACACATATACACGTGTATATATATACGTATATATACACATATATA CGTATATATATACGTATATATACATGTATATATACGTACGTATATATACA TGTATATATACGTATATATATACGTATATATGTGTATATATACGTATATA TATACACGTATATATACACATATATACATGTATATATATACGTATATATA CACATATATACATGTATATATATACGTATATATACATATATACGTATATA TATACGTATATATACATATATACATGTATATATATATACGTATATATACA TATATACATGTATATATATATACGTATATATACATATATACATGTATATA TATATACGTATATACACATATATATACATGTATATATATGTGTATATATA CATGTATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0203	1	183	0.0055	715	c.-42 others(726): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA CATGTATATATATACGTATATATATATACTTGTATACATATATACTATAT ATATACATATATACACATATATACGTATATATGTGTATATATACATATAT ACATGTATATACGTATATACATGTATATACGTATATATACACGTATATAT ACATGTATATATACGTATATATACACATATATACATGTATATATACGTGT ATATATACACATATATACGTGTATATATACGTATATATACACATATATAC GTGTATATATACGTATATATACACATATACACGTGTATATATATACGTAT ATATACACATATATACGTATATATATACGTATATATACATGTATATATAC GTACGTATATATACATGTATATATACGTATATATATACGTATATATGTGT ATATATACGTATATATATACACGTATATATACACATATATACATGTATAT ATATACGTATATATACACATATATACATGTATATATATACGTATATATAC ATATATACGTATATATATACGTATATATACATATATACATGTATATATAT ATACGTATATATACATATATACATGTATATATATATACGTATATATACAT ATATACATGTATATATATATACGTATATACACATATATATACATGTATAT ATATGTGTATATATACATGTATATATACACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ABCB11_chr2_168915781_169036324	168975305	A A	ATAAATAT others(709): Show ATAAATATATAAATATATACATATTTATATATTTATAGATAAATATATAC ATATTTATATATTTATAGATAAATATATAAATATTTATATATTTATACAT AAATGTATAAATATTTTTATATTTATACATAAATGTATAAATATTTTTAT ATTTATACATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAA ATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGAT AAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTAT ATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAA ATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGAT AAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTAT ATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAA ATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGAT AAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTAT ATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAA ATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGAT AAATGTATAAATATTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0203 a0001c0002t0003g0203	1	160	0.0063	716	c.130 others(735): Show c.1308+1271_1308+1272insAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATGTATAAATATAAAAATA TTTATACATTTATGTATAAATATAAAAATATTTATACATTTATGTATAAA TATATAAATATTTATATATTTATCTATAAATATATAAATATGTATATATT TATCTATAAATATATAAATATGTATATATTTATATATTTA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975305	A A	ATAAATAT others(709): Show ATAAATATATAAATATATACATATTTATATATTTATAGATAAATATATAC ATATTTATATATTTATAGATAAATATATACATATTTATATATTTATACAT AAATGTATAAATATTTTTATATTTATACATAAATGTATAAATATTTTTAT ATTTATACATAAATGTATAAATATTTTTATATTTATACATAAATGTATAA ATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGAT AAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTAT ATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAA ATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGAT AAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTAT ATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAA ATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGAT AAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTAT ATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAA ATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGAT AAATGTATAAATATTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0185 a0001c0002t0006g0185	1	160	0.0063	716	c.130 others(735): Show c.1308+1271_1308+1272insAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATGTATAAATATAAAAATATTTATACATTTATGTATAAATATAAAAATA TTTATACATTTATGTATAAATATAAAAATATTTATACATTTATGTATAAA TATATAAATATGTATATATTTATCTATAAATATATAAATATGTATATATT TATCTATAAATATATAAATATGTATATATTTATATATTTA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ACSF3_chr16_89088852_89161233	89137345	G G	GGGAGGAC others(709): Show GGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCGG GTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGC CCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGA AGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGA GGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAG ATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTTGTGGG GAACGAGTGAGGGGAAGAGCCCCGGGTCCCGGGGAGGACCACCAGGAGCT CAAGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAG GAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCTGGGAGGACC ACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGA GGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCC CGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCA GGTCCCGGGAGGACCACCAGGAGCTTGTGGGGAAGGACTGAGGGGAAGAG CCCCAGGTCTTGGGAGGACCACCAGGAGCTCATGGGGAAGGATTGAGGGG AAGAGCCCCGGGTCTCA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01123.hp1 HG01261.hp2 others(4): Show HG01109.hp2 HG01123.hp1 HG01261.hp2 HG01952.hp2 HG02273.hp1 HG02965.hp2 HG03710.hp1	a0002 a0005 a0002 a0005	a0002c0003 a0005c0009 a0002c0003 a0005c0009	a0002c0003t0005 a0002c0003t0055 a0005c0009t0051 a0002c0003t0005 a0002c0003t0055 a0005c0009t0051	a0002c0003t0005g0020 a0002c0003t0005g0021 a0002c0003t0005g0082 others(4): Show a0002c0003t0005g0020 a0002c0003t0005g0021 a0002c0003t0005g0082 a0002c0003t0005g0084 a0002c0003t0005g0088 a0002c0003t0055g0121 a0005c0009t0051g0214	7	348	0.0201	716	c.136 others(735): Show c.1366+4130_1366+4131insGGGTCCCGGGAGGACCACCAGGAGCT CACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAG GAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACC ACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGA GGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCT CGGGAGGACCACCAGGAGCTTGTGGGGAACGAGTGAGGGGAAGAGCCCCG GGTCCCGGGGAGGACCACCAGGAGCTCAAGGGGAAGGATTGAGGGGAAGA GCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGG GAAGAGCCCCAGGTCCTGGGAGGACCACCAGGAGCTCACGGGGAAGGATT GAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAA GGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACG GGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGC TTGTGGGGAAGGACTGAGGGGAAGAGCCCCAGGTCTTGGGAGGACCACCA GGAGCTCATGGGGAAGGATTGAGGGGAAGAGCCCCGGGTCTCAGGAGGAC CACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCC	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89137345	G G	GGGAGGAC others(709): Show GGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCGG GTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGC CCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGA AGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGA GGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTTGTGGGGAACG AGTGAGGGGAAGAGCCCCGGGTCCCGGGGAGGACCACCAGGAGCTCAAGG GGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCT CACAGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCTGGGAGGACCACCAG GAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCTGGGAGGACC ACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGA GGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCC CGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCA GGTCCCGGGAGGACCACCAGGAGCTTGTGGGGAAGGACTGAGGGGAAGAG CCCCAGGTCTTGGGAGGACCACCAGGAGCTCATGGGGAAGGATTGAGGGG AAGAGCCCCGGGTCTCA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0029 a0002c0003t0005g0029	1	342	0.0029	716	c.136 others(735): Show c.1366+4130_1366+4131insGGGTCCCGGGAGGACCACCAGGAGCT CACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAG GAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACC ACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGA GGACCACCAGGAGCTTGTGGGGAACGAGTGAGGGGAAGAGCCCCGGGTCC CGGGGAGGACCACCAGGAGCTCAAGGGGAAGGATTGAGGGGAAGAGCCCC AGGTCCCGGGAGGACCACCAGGAGCTCACAGGGAAGGATTGAGGGGAAGA GCCCCAGGTCCTGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGG GAAGAGCCCCAGGTCCTGGGAGGACCACCAGGAGCTCACGGGGAAGGATT GAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAA GGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACG GGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGC TTGTGGGGAAGGACTGAGGGGAAGAGCCCCAGGTCTTGGGAGGACCACCA GGAGCTCATGGGGAAGGATTGAGGGGAAGAGCCCCGGGTCTCAGGAGGAC CACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCC	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89137345	G G	GGGAGGAT others(709): Show GGGAGGATCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCGG GTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGC CCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGA AGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGA GGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAG ATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTTGTGGG GAACGAGTGAGGGGAAGAGCCCCGGGTCCCGGGGAGGACCACCAGGAGCT CAAGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAG GAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCTGGGAGGACC ACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGA GGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCC CGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCA GGTCCCGGGAGGACCACCAGGAGCTTGTGGGGAAGGACTGAGGGGAAGAG CCCCAGGTCTTGGGAGGACCACCAGGAGCTCATGGGGAAGGATTGAGGGG AAGAGCCCCGGGTCTCA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0087 a0002c0003t0005g0087	1	342	0.0029	716	c.136 others(735): Show c.1366+4089_1366+4090insTCACCAGGAGCTCACGGGGAAGGATT GAGGGGAAGAGCCCCGGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAA GGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACG GGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGC TCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCA GGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGAC CACCAGGAGCTTGTGGGGAACGAGTGAGGGGAAGAGCCCCGGGTCCCGGG GAGGACCACCAGGAGCTCAAGGGGAAGGATTGAGGGGAAGAGCCCCAGGT CCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCC CAGGTCCTGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAG AGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGG GGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGAT TGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTTGTGGGGA AGGACTGAGGGGAAGAGCCCCAGGTCTTGGGAGGACCACCAGGAGCTCAT GGGGAAGGATTGAGGGGAAGAGCCCCGGGTCTCAGGAGGA	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(709): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAAGAGGG AAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAA GGGAAAGGGAGGGAAGGGAAGGGAAGGGGAAGGGAAGGGAAAAGGAAGGG AAGGGAAGGGAAGGGAAGGAAGGGGAAAGGGAAGGGAAAAGGAAGGGAAG GGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAGGGAAGGGGAAG GGAAGGGAAGGGAATGGGACAAGGAAGGGGAAGGGAAAAGGAAGGGGAAG GGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGGAAGGGAA GGGAAAGGGAAGGGAAAGGGAAAGGGAAGGGGAAGGGGAAGGGAAGGGAA GGGGAAGGGAAGGGGAAGGGAAAAGTAAGGGAAAGGAGAGGGGAAGGGAA AGGGAGGGGAAGGGAAGGGGAAGGGGAAGGAAAAGGAAGGGGAAGGGAAG GGGAGGGGGAAGTGAAGGGGTAGCAAAGGGAAAGAAGGAAAGGGAAAAGG GAAGAGAGGGAGGGAGGGAGGGAGGAAGAAGGACGGATGGACGGACAGGA CGAAAAAAAGAGAGGGGAGGGAAGAGAGGGGAGGGGAGGGAAGAGAAGAA AAAGGGAAGGGAGGAAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGG AGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0176 a0002c0004t0002g0176	1	5	0.2000	716	c.927 others(733): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTC CCTCCCCTCCCCTCTCTTCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTC CATCCGTCCTTCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTT TCCTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCC CTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCC TCTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCT TCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCTT TCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCTTCCCTTCCCCTTCC TTTTCCCTTCCCCTTCCTTGTCCCATTCCCTTCCCTTCCCTTCCCCTTCC CTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCT TTTCCCTTCCCTTTCCCCTTCCTTCCCTTCCCTTCCCTTCCCTTCCTTTT CCCTTCCCTTCCCCTTCCCTTCCCTTCCCTCCCTTTCCCTTCCCTTTCCC TTCCCTTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTTCCCTCTTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP39_chr8_144524179_144690846	144686964	C C	CGAGCACT others(709): Show CGAGCACTTCCCACCCCGTGACCACACACTAGCGGCGAGCACTTCCCACC CCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGACCACACAC TAGCGGCGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTT CCCACCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCCGTGACC ACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACGCACTAGCGGTG AGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCC CCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCCGTGACCACACAC TAGCGGCGAGCACTTCCCACCCCCGTGACCACACACTAGCGGTGAGCACT TCCCACCCCCGTGACCACGCACTAGCGGTGAGCACTTCCCACCCCCGTGA CCACGCACTAGCGGTGAGCACTTCCCACCCCCGTGACCACGCACTAGCGG TGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCAC CCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGACCACAC ACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTAGCAGTGAGCA CTTCCCACCCCCGTGACCACACACTAGCGGCGAGCACTTCCCACCCCCGT GACCACACACTAGCGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0118 a0001c0001t0008g0118	1	230	0.0043	716	c.-13 others(727): Show c.-1361_-1360insACCGCTAGTGTGTGGTCACGGGGGTGGGAAGTGC TCGCCGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACTGCTAGTGTG TGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTG GGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCG CCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGCGTGGTCA CGGGGGTGGGAAGTGCTCACCGCTAGTGCGTGGTCACGGGGGTGGGAAGT GCTCACCGCTAGTGCGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTG TGTGGTCACGGGGGTGGGAAGTGCTCGCCGCTAGTGTGTGGTCACGGGGG TGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCAC CGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGCGTGGT CACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAA GTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCGCTGTAAAT GAGTGGTCACGGGGTGGGAAGTGCTCGCCGCTAGTGTGTGGTCACGGGGG TGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCC GCTAGTGTGTGGTCACGGGGTGGGAAGTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1119		chr8	TogoVar
BRF1_chr14_105204286_105306001	105240215	C C	CCACACCA others(709): Show CCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGG CAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGA GGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCT GACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGA GAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGCGGGGGACAGCC TGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGGCAGCCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGA GAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGGCGGGGG ACAGCCTGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAG GAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGG GACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTC AGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGG GGGACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATC TCAGGAGAGAGAGGCCA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	70	0.0143	716	c.694 others(733): Show c.694+1049_694+1050insTGGCCTCTCTCTCCTGAGATGCTAGGTT GTTGCTCCTGAGGGTGCCACAGGGCTGCCAGGCTGTCCCCCGCCCCCAGC TGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGG TTGTTGCTCCTGAGGGTGCCACAGGGCTGCCAGGCTGTCCCCCGCCCCCA GCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTA GGTTGTTGCTCCTGAGGGTGCCACAGGGCTGCAGGCTGTCCCCCGCCCCC CAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGC TAGGTTGTTGCTCCTGAGGGTGCCACAGGGGCTGCCAGGCTGTCCCCCGC CCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGA TGCTAGGTTGTTGCTCCTGAGGGTGCCACAGGGCTGTCAGGCTGTCCCCC GCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAG ATGCTAGGTTGTTGCTCCTGAGGGTGCCACAGGGCTGTCAGGCTGTCCCC CGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTG AGATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCC CCCGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
CASZ1_chr1_10631604_10801646	10744731	C C	CACCACGA others(709): Show CACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCA CCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACC ACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCAC GAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGA GCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGC AGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAG GCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGC ATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCAT GTCCTGGGCACCACGAGCAGGCACGTCCTGGGCACCACGAGCAGGCACGT CCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCC TGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTG GGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGG CACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCA CCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACC ACGAGCAGGCATGTCCT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0044 a0001c0003t0044	a0001c0003t0044g0047 a0001c0003t0044g0047	1	186	0.0054	716	c.-77 others(735): Show c.-77+15969_-77+15970insAGGACATGCCTGCTCGTGGTGCCCAG GACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGA CATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACA TGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATG CCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCC TGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACGTGCCTG CTCGTGGTGCCCAGGACGTGCCTGCTCGTGGTGCCCAGGACATGCCTGCT CGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCG TGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTG GTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGT GCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGC CCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCC AGGACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAG GACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGA CATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGT	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(709): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCCTC CCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCT CCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCT TCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCT TCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTT CTCCCTTATCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT TCTCCCTTATCCCTCCTCCCTTCCCCCTTCCCCCTTACTCCCTTCCCCCT TACCCCCTTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCCT CCTCCCTTCCTCCCTCCTCCCCTTCCCCCTCCTCCTTTCCTTTCTCCCTC CTCCCTTCCGCCCTCCTCCCCTTCCCCCTCCTCCTTTCCTTTCTCCCTCC TCCCTTCCGCCCTCCTCCCCTTCCCCCTCCTCCTTTCCTTTCTCCCTCCT CCCTTCCGCCCTCCTCCCCTTCCCCCCTTCCCCCTTACTCCCTTCCCCCT TACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTC CCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02976.hp1 HG06807.hp2 HG01884.hp2 HG02976.hp1 HG06807.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0013 a0001c0007t0006g0013	3	10	0.3000	716	c.69 others(727): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTC CTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTC CTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTC CTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCCCCCT CCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCCCCT TACTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCCCCTTCCTCCCTCCTC CTTTCCTTTCTCCCTCCTCCCTTCCTCCCTCCTCCCCTTCCCCCTCCTCC TTTCCTTTCTCCCTCCTCCCTTCCGCCCTCCTCCCCTTCCCCCTCCTCCT TTCCTTTCTCCCTCCTCCCTTCCGCCCTCCTCCCCTTCCCCCTCCTCCTT TCCTTTCTCCCTCCTCCCTTCCGCCCTCCTCCCCTTCCCCCCTTCCCCCT TACTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTC TCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(709): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTC CCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCC CCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCC TTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTC CCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCC CCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCC TTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCC CCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTT ATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCT TACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTC CCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0002 a0002c0001t0002g0002	1	8	0.1250	716	c.69 others(727): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC CTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTC CCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCC TTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCT CCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCT TCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTC CCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCC TCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTT CCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCT TCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTC TCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CLEC17A_chr19_14578084_14617035	14595973	A A	ATGTTGTT others(709): Show ATGTTGTTGGTGATGATGATGGTGGTGGTGAAGGCATTGATGGTGTTGGT GATGACAGTGCTGTTGGTAGTAATGATGGTGGTGAAGGTGGAGGTGGTGA TGGTGCCGTTAATATTGACAATGGTAGTGAGATAGTGTTAGGGTGGTGAT GGTGGGTGGAGATAGTGATGGTGTTGGTGATGGTGGTGGTGGTGGAGGTA GTGATGGTGTTGTTGGTAGTGATGGTGGTGGTGATGGTGGAAGTAGTGAT GGTGTTGTTGGTAGACATGATGGTGGTGATGGTGGATGTAGTGATGGTGT TGGTAGACATGATGGTGGTGACGATGGAGGTAGTGATGGTGTTGGGAGTG ATGATGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGGAGTGATGATGGT GGTGATGGTGGAAGTAGTGATGGTGTTGTTGGGAGTGATGATGGTGGTGA TGGTGGAGGTAGTGATGGTGTTGGTAGTGATGATGGTGGTGACGATGGAG GTAGTGATGGTGTTGGGAGTGATGATGGTGGTGATGGTGGAGGTAGTGAT GGTGTTGGTAGAGATGATGGTTATGGTGGAGGTAGTGATGGTGTTGGTAA TGATGATGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTAGAGATGATG GCTATGGTGGAGGTAGTGATGGTGTTGTTGGGAGTGATGATGGTGGTGGT GGTGGAGGTAGTGATGG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0045	1	30	0.0333	716	c.445 others(731): Show c.445+668_445+669insGATGATGATGGTGGTGGTGAAGGCATTGAT GGTGTTGGTGATGACAGTGCTGTTGGTAGTAATGATGGTGGTGAAGGTGG AGGTGGTGATGGTGCCGTTAATATTGACAATGGTAGTGAGATAGTGTTAG GGTGGTGATGGTGGGTGGAGATAGTGATGGTGTTGGTGATGGTGGTGGTG GTGGAGGTAGTGATGGTGTTGTTGGTAGTGATGGTGGTGGTGATGGTGGA AGTAGTGATGGTGTTGTTGGTAGACATGATGGTGGTGATGGTGGATGTAG TGATGGTGTTGGTAGACATGATGGTGGTGACGATGGAGGTAGTGATGGTG TTGGGAGTGATGATGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGGAGT GATGATGGTGGTGATGGTGGAAGTAGTGATGGTGTTGTTGGGAGTGATGA TGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTAGTGATGATGGTGGTG ACGATGGAGGTAGTGATGGTGTTGGGAGTGATGATGGTGGTGATGGTGGA GGTAGTGATGGTGTTGGTAGAGATGATGGTTATGGTGGAGGTAGTGATGG TGTTGGTAATGATGATGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTA GAGATGATGGCTATGGTGGAGGTAGTGATGGTGTTGTTGGGAGTGATGAT GGTGGTGGTGGTGGAGGTAGTGATGGTGTTGTTGGT	CLEC17A	ENSG00000187912.12	transcript	ENST00000417570.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
COL4A2_chr13_110302284_110518209	110481949	G G	GTGCTGGA others(709): Show GTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTC TGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGA CACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCG TTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACAGTTCT GTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGAC ACACTGTTCTGTCCCTCCGTGCTGGAGACACACAGTTCTGTCCTTCCGTT GCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTGTTCTG TCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACA CACTGTTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTT GCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTG TCCTTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACAC ACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTG CTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACACACTGTTCTGTC CCTCCGTTGCTGGAGACACACTGTTCTGTCCTTCCGTTGCTGGAGACACA CTGCTCTGTCCTTCCAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0102 a0001c0102	a0001c0102t0011 a0001c0102t0011	a0001c0102t0011g0172 a0001c0102t0011g0172	1	341	0.0029	716	c.275 others(733): Show c.2759-551_2759-550insCTCTGTCCCTCCGTTGCTGGAGACACAC TGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCT GGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCC CTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACA GTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTG GAGACACACTGTTCTGTCCCTCCGTGCTGGAGACACACAGTTCTGTCCTT CCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTG TTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGG AGACACACTGTTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCT CCGTTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTG CTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGA GACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTC CGTTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACACACTGTT CTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCTTCCGTTGCTGGAG ACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
EXD3_chr9_137301896_137428162	137348511	G G	GGCTAGAT others(709): Show GGCTAGATAGAGAGGGGTGGGGATCACAAGGAAGGTGCTAGATAGAGAGG GGTGGGGATCACAAGGAGGGGGTTAGATAGAGAGGGGTGGGGATCACGAG GAAGGTGCTAGATAGAGAGGGGTGAGGATCACAAGGAGGGGGTTAGACAG AGAGGGGTGGGGATCATGGGGAGGGGGCTAGATAGAGAGGGGTGGGGATC ACGGGGAGGGGTTAGATAGAGAGGGGAGGGGGAGGGGGCTAGATAGAGAG GGGTGGGGATCACGGGGAGGGGTTAGATAGAGAGGGGAGGGGGAGGGGGC TAGATAGAGAGGGGTGGGGATCACGAGGAGGGGCTAGATAGAGAGGGGTG GGGATCACGGGGAGGGTTCTAGATAGAGAGGGGTGGGGATCACGGGGAAG GTTCTAGATAGAGAGGGATGGGGATCACGGGGAAGGTTCTAGATAGAGAG GGGTGGGGATCACGGGGAAGGTTCTAGATAGAGAGGGATGGGGATCACGG GGAAGGTGCTAGATAGAGAGGGGTGGGGATTACGGGGAGAGAGCTAGATA GAGAGGGGTGGGGATCACGGGGAAGGTTCTAGATAGAGAGGGATGGGGAT CACGGGGAAGGTGCTAGATAGAGAGGGGTGGGGATTACGGGGAGAGAGCT AGATAGAGAGGGGTGGGGATCACGGGGAGGGGGCTAGATAGAGAGGGGTG GGGATCACAAGGAAGGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00423.hp2 others(6): Show HG00099.hp2 HG00280.hp2 HG00423.hp2 HG00741.hp1 HG01975.hp2 HG02004.hp2 HG03669.hp2 NA18747.hp2 NA19066.hp1	a0003 a0012 a0018 others(1): Show a0003 a0012 a0018 a0020	a0003c0003 a0012c0011 a0018c0016 others(1): Show a0003c0003 a0012c0011 a0018c0016 a0020c0032	a0003c0003t0001 a0012c0011t0001 a0018c0016t0001 others(1): Show a0003c0003t0001 a0012c0011t0001 a0018c0016t0001 a0020c0032t0001	a0003c0003t0001g0025 a0003c0003t0001g0037 a0003c0003t0001g0041 others(6): Show a0003c0003t0001g0025 a0003c0003t0001g0037 a0003c0003t0001g0041 a0003c0003t0001g0068 a0003c0003t0001g0074 a0012c0011t0001g0020 a0012c0011t0001g0055 a0018c0016t0001g0019 a0020c0032t0001g0054	9	20	0.4500	716	c.183 others(733): Show c.1831-274_1831-273insACCTTCCTTGTGATCCCCACCCCTCTCT ATCTAGCCCCCTCCCCGTGATCCCCACCCCTCTCTATCTAGCTCTCTCCC CGTAATCCCCACCCCTCTCTATCTAGCACCTTCCCCGTGATCCCCATCCC TCTCTATCTAGAACCTTCCCCGTGATCCCCACCCCTCTCTATCTAGCTCT CTCCCCGTAATCCCCACCCCTCTCTATCTAGCACCTTCCCCGTGATCCCC ATCCCTCTCTATCTAGAACCTTCCCCGTGATCCCCACCCCTCTCTATCTA GAACCTTCCCCGTGATCCCCATCCCTCTCTATCTAGAACCTTCCCCGTGA TCCCCACCCCTCTCTATCTAGAACCCTCCCCGTGATCCCCACCCCTCTCT ATCTAGCCCCTCCTCGTGATCCCCACCCCTCTCTATCTAGCCCCCTCCCC CTCCCCTCTCTATCTAACCCCTCCCCGTGATCCCCACCCCTCTCTATCTA GCCCCCTCCCCCTCCCCTCTCTATCTAACCCCTCCCCGTGATCCCCACCC CTCTCTATCTAGCCCCCTCCCCATGATCCCCACCCCTCTCTGTCTAACCC CCTCCTTGTGATCCTCACCCCTCTCTATCTAGCACCTTCCTCGTGATCCC CACCCCTCTCTATCTAACCCCCTCCTTGTGATCCCCACCCCTCTCTATCT AGCACCTTCCTTGTGATCCCCACCCCTCTCTATCTAGC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	16/21			chr9	TogoVar
GALNT9_chr12_132191372_132334589	132240959	C C	CTCCCTAT others(709): Show CTCCCTATCCCCATTAAACACACAACACACACCCTTCCCGGGGCCCTCCC TATACCCATTACACACACAACACACACTTCCCGGGGCCCTCCCTATCCCC ATTAAACACACAACACACCCCCTTCCCGGGGCCCTCCCTATACCCATTAC ACACACGCCACACACCCTTCCCGGGGCCGTCCCTATACCCATTAAACACA CAACACACCCCCTTCCCGGGGCCCTCCCTATCCCCATTAAACACACAACA CACCCCCTTCCCAGGGCCCTCCCTATACCCATTACACACACAACACACAC TTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCC GGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGC CCTCCCTATACCCATTACACACACACCACACCCCCTTCCCGGGGCCCTCC CTATACCCATTACACACACAACACACACCCTTCCCGGGGCCCTCCCTATA CCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCAT TACACACACGCCACACACCCTTCCCGGGGCCCTCCCTATACCCATTACAC ACACAACACACACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACA CCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACAACACA CCCCCTTCCCGGGGCCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0181 a0001c0012t0002g0181	1	180	0.0056	716	c.107 others(735): Show c.1077+6950_1077+6951insAGGCCCCGGGAAGGGGGTGTGTTGTG TGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGTGTGTGTGT AATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGG GTATAGGGAGGGCCCCGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATA GGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAG GGCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCC CGGGAAGGGGGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGA AGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGT GTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGTGTGTGTT GTGTGTGTAATGGGTATAGGGAGGGCCCTGGGAAGGGGGTGTGTTGTGTG TTTAATGGGGATAGGGAGGGCCCCGGGAAGGGGGTGTGTTGTGTGTTTAA TGGGTATAGGGACGGCCCCGGGAAGGGTGTGTGGCGTGTGTGTAATGGGT ATAGGGAGGGCCCCGGGAAGGGGGTGTGTTGTGTGTTTAATGGGGATAGG GAGGGCCCCGGGAAGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCC CCGGGAAGGGTGTGTGTTGTGTGTTTAATGGGGATAGGGA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
HAUS2_chr15_42543838_42574994	42557401	T T	TATATATA others(709): Show TATATATAATATATATTTTATATATAATATATATTTTATATATATTATAT ATTTTATATATAATATATATTTTATATATATTATATATTTTATATAATAT ATATATATTATATATAATATATATTATATATAATATATATATTATATATA AAATATATAATATATATCTTATATATATCATATATTTTATATATATCATA TATTTTATATATAATATATATTATATATACATTATATAATATATATTATA TAATATATATTATATATTATATAATATATATTATATATTATACGTAATAT ATAATGTATATTATATATAATATACATTGTATATAATGTATATTATATAT AATATACATTGTATATAATGTATATTATATATAATATACATTGTATATAA TGTATATTATATATAATATACATTATATATAATGTATATTACATATAATA TACATTATATATAATGTATATTACATATAATATACATTATATATAATGTG TATATTACATGTAATATACATTATATATAATGTATATATTACATGTAATA TATACATTATATATAATGTATATATTATATGTAATATATACATTATATAT AATGTGTATATTATATGTAATATATACATTATATATAATGTATATTATAT GTAATATATACATTATATATAATGTATATTATATGTAATATATACATTAT ATAATGTATATTATGTA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0071 a0001c0001t0010g0071	1	309	0.0032	716	c.94- others(729): Show c.94-790_94-789insATATATATTTTATATATAATATATATTTTATA TATATTATATATTTTATATATAATATATATTTTATATATATTATATATTT TATATAATATATATATATTATATATAATATATATTATATATAATATATAT ATTATATATAAAATATATAATATATATCTTATATATATCATATATTTTAT ATATATCATATATTTTATATATAATATATATTATATATACATTATATAAT ATATATTATATAATATATATTATATATTATATAATATATATTATATATTA TACGTAATATATAATGTATATTATATATAATATACATTGTATATAATGTA TATTATATATAATATACATTGTATATAATGTATATTATATATAATATACA TTGTATATAATGTATATTATATATAATATACATTATATATAATGTATATT ACATATAATATACATTATATATAATGTATATTACATATAATATACATTAT ATATAATGTGTATATTACATGTAATATACATTATATATAATGTATATATT ACATGTAATATATACATTATATATAATGTATATATTATATGTAATATATA CATTATATATAATGTGTATATTATATGTAATATATACATTATATATAATG TATATTATATGTAATATATACATTATATATAATGTATATTATATGTAATA TATACATTATATAATGTATATTATGTAATATATA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TAATATAT others(709): Show TAATATATATATGGAATATATACGGAATATATATATAATATATATGGAAT ATATATATACGGAATATATATAATATATATACGGAATATATATATACGGA ATATATATAATATATATACGGAATATATATATAATATATATATAATATAT ATACGGAATATATATATAATATATAAATGGAATATATATACGGAATATAT ATATAATATATAAATGGAATATATATATACGGAATATATATATAATATAT AAATGGAATATATATATACGGAATATATATATAATATATATATGGAATAT ATATATACGGAATATATATATAATATATATATGGAATATATATATACGGA ATATATATATAATATATATATGGAATATATATATACGGAATATATATATT ATATATATGGAATATATATATACGGAATATATATATAATATATATATGGA ATATATATACGGAATATATATATATGGATATATATACGGAATATATATAT ATGGAATATATATATATGGAATGTGTATATATGGAATATATATATATGGA ATGTGTATATATGGAATATATATATATGGAATGTGTATATATGGAATATA TATATATGGAATGTGTATATATGGAATATATATATGGAATGTGTATATAT GGAATATATATATGGAATATATATATGGAATATATATATGGAATATATAT ATGGAATATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	62	0.0161	716	c.-21 others(727): Show c.-2147_-2146insAATATATATATGGAATATATACGGAATATATATA TAATATATATGGAATATATATATACGGAATATATATAATATATATACGGA ATATATATATACGGAATATATATAATATATATACGGAATATATATATAAT ATATATATAATATATATACGGAATATATATATAATATATAAATGGAATAT ATATACGGAATATATATATAATATATAAATGGAATATATATATACGGAAT ATATATATAATATATAAATGGAATATATATATACGGAATATATATATAAT ATATATATGGAATATATATATACGGAATATATATATAATATATATATGGA ATATATATATACGGAATATATATATAATATATATATGGAATATATATATA CGGAATATATATATTATATATATGGAATATATATATACGGAATATATATA TAATATATATATGGAATATATATACGGAATATATATATATGGATATATAT ACGGAATATATATATATGGAATATATATATATGGAATGTGTATATATGGA ATATATATATATGGAATGTGTATATATGGAATATATATATATGGAATGTG TATATATGGAATATATATATATGGAATGTGTATATATGGAATATATATAT GGAATGTGTATATATGGAATATATATATGGAATATATATATGGAATATAT ATATGGAATATATATATGGAATATATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(709): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGA GGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGG GGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGG AGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGC AGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGG GAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGACGGGCAGGG AGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGG GCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCA AGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0103 a0002c0002t0001g0103	1	13	0.0769	716	c.978 others(733): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGG CAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAG GAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAG AGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGA TGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCA GGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCA GGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGG AGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGG GCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGA GGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGG CAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(709): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCA CCCCCCCACAGCCACCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGC CGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCC ACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCCACAGCCACC CCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCC GCCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAG CCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCA CAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCC CCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCAC CCCCCACAGTCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGC CGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGC AGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0050 a0002c0004t0001g0050	1	5	0.2000	716	c.-41 others(731): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCCA CAGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCC CCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCC ACCCCCCCACAGCCACCCCCACAGCCGCCCCCACAGCCACCCCCCCACAG CCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCACAGCCACCCCCC CACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCCACAGCCAC CCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGC CGCCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACA GCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCC ACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCC CCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCA CCCCCCACAGTCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAG CCGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCG CAGCTGCCCCCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNK9_chr8_139612121_139708123	139687464	A A	ATATATGT others(709): Show ATATATGTGTACACATATATATTCATATATATGTGTACACATATATATTC ATATATATGTGTACACATATATATTCATATATATGTGTACACATATATAT TCATATATATGTGTACACATATATATTCATATATATGTGTACACATATAT ATTCATATATATGTGTACACATATATATTCATATATATGTGTACACATAT ATATTCATATATATGTGTACACATATATATTCATATATATGTGTACACAT ACACATATATATGAATATATATGTGTACACATATATATGAATATATATGT ATACACATATATATGAATATATATGTGTACACATATATATGAATATATAT GTGTACATATGTATATTCATATATATGTGTACACATATATATTCATATAT ATGTGTACACATATATATTCATATATATGTGTACACATATATATTCATAT ATATGTGTACACATATATATTCATATATATGTGTACACATATATATTCAT ATATATGTGTACACATATATATTCATATATATGTGTACACATATATATGA ATATATATGTGTACACATATATATGAATATATATGTATACACATATATAT GAATATATATGTATACACATATATATGAATATATATGTGTACACATATAT ATGAATATATATGTGTATACATATATATTCATATATATGTGTATACATAT ATATTCATATATATGTG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0261 a0001c0002t0001g0261	1	247	0.0040	716	c.283 others(735): Show c.283+15245_283+15246insCACATATATATGAATATATATGTATA CACATATATATGAATATATATGTATACACATATATATTCATATATATGTG TACACATATATATTCATATATATGTGTATACATATATATTCATATATATG TGTATACATATATATTCATATATATGTGTACACATATATATTCATATATA TGTGTACACATATATATGAATATATATGTGTACACATATATATGAATATA TATGTGTACACATATATATGAATATATATGTGTACACATATATATGAATA TATATGTGTACACATATATATGAATATATATGTGTACACATATATATGAA TATATATGTGTACACATATATATGAATATACATATGTACACATATATATT CATATATATGTGTACACATATATATTCATATATATGTGTATACATATATA TTCATATATATGTGTACACATATATATTCATATATATGTGTATGTGTACA CATATATATGAATATATATGTGTACACATATATATGAATATATATGTGTA CACATATATATGAATATATATGTGTACACATATATATGAATATATATGTG TACACATATATATGAATATATATGTGTACACATATATATGAATATATATG TGTACACATATATATGAATATATATGTGTACACATATATATGAATATATA TGTGTACACATATATATGAATATATATGTGTACACATATA	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KRT82_chr12_52388931_52411335	52409027	C C	CCTCTCCC others(709): Show CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCTCCTTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCTCACTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0008	1	4	0.2500	716	c.-27 others(727): Show c.-2751_-2750insAGGGAGAGTGAGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAAGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2693		chr12	TogoVar
MED27_chr9_131855112_132084867	131964326	G G	GAGGTGAT others(709): Show GAGGTGATGGTGGTGGTGATGGTGGTGGGGGGTGGTGGTGGGGATGGAGG TGGTGATGGTGATGGTGGTGGTGGAGGTGCTGGTGGTAGAGGTTATGGTG GTGGTGGTGATGGTGGGGGTGGAGGTGGTGATAGTGGTGGTGGGGGTGGA GATGGTGATGGTAGTGGTGATGGTAGAGGTTATGGTGGTGGTGGTGGTGA TGGTGTTGGTAGAGGTGATGGTGATAGAGGTGATGGTGATGGTGGTGGTG GGGGTGATGGTGACAGGAGGTGGTGGCGATGATGGAAATGATGGTGGTAG TGAAGGTGATGGTGGTGGTGGTGATGGTAGTCGAGGTGATGGTGGTAGTG ATGGTGGTGGTGGTGGAGGTGATGGTAGTGGAGGTGATGGTGGTGGAGAT GATCATGATGGTGGTGGTGGTGATGGTGGAGGGTGTGGTGGTAGTGAAGG TGATGGTGGTGGTGGTAGAGGTGATGGTAATGGTGGAGGTGATGGTGGTG ATGGTGGTAGTGAAAGTGATGGTGGTGATGGTGGAGGGTGTGGTGGTAGT GAAGGTGATGGTGGTGGTGGTGATGGCAGAGGGTGTGGTGGTAGTGAAGG TGATGGTGGTGGTGGTAGAGGTGATGGTAGAGGTGATGGTAATGGTGGAG GTGATGGTGGTGATGATGGTGGTAGTGAAAGTGATGGTGGTGATGGTTGA GGGTGTGGTGGTAGTGA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	109	0.0092	716	c.480 others(735): Show c.480-24853_480-24852insTCACTACCACCACACCCTCAACCATC ACCACCATCACTTTCACTACCACCATCATCACCACCATCACCTCCACCAT TACCATCACCTCTACCATCACCTCTACCACCACCACCATCACCTTCACTA CCACCACACCCTCTGCCATCACCACCACCACCATCACCTTCACTACCACC ACACCCTCCACCATCACCACCATCACTTTCACTACCACCATCACCACCAT CACCTCCACCATTACCATCACCTCTACCACCACCACCATCACCTTCACTA CCACCACACCCTCCACCATCACCACCACCACCATCATGATCATCTCCACC ACCATCACCTCCACTACCATCACCTCCACCACCACCACCATCACTACCAC CATCACCTCGACTACCATCACCACCACCACCATCACCTTCACTACCACCA TCATTTCCATCATCGCCACCACCTCCTGTCACCATCACCCCCACCACCAC CATCACCATCACCTCTATCACCATCACCTCTACCAACACCATCACCACCA CCACCACCATAACCTCTACCATCACCACTACCATCACCATCTCCACCCCC ACCACCACTATCACCACCTCCACCCCCACCATCACCACCACCACCATAAC CTCTACCACCAGCACCTCCACCACCACCATCACCATCACCACCTCCATCC CCACCACCACCCCCCACCACCATCACCACCACCATCACCT	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(709): Show TCTGCTCTCCCCTCCCCCTCCCCCCTCCCCTCTCCCTCCCCTCTCCCCTC CCCTCTCCCCCTCCCCCTCTTCCCTCCCCTCCTCTCTTCCCCTCCCCTCC TCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCCTCCCGTCTCCC CTCCCGTCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCCTCCCGTCTCCCC TCCCGTCTCCCCTCCCGTCTCCCCCTCCTCCCCTCCCCTCCCCCTCCTCC CCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCTCCCTCCCCTC CTCCTCCCCTCCCTCCTCCCCTCCCCTCCCTCCCCTCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCC TCCTCCTCTCCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCT CCCCTCCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCT CCCCTCCCCCTCTCCTCCTCCCCTCCCCCTCCCATCCCCTCCTCCCCTCC CCTCCCCCCTTCCTCCC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	4	0.2500	716	c.114 others(735): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCCTCCCCCCTCCC CTCTCCCTCCCCTCTCCCCTCCCCTCTCCCCCTCCCCCTCTTCCCTCCCC TCCTCTCTTCCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCC CGTCTCCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCCTCTCCCCTCCC GTCTCCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCCTCCT CCCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCTCCCCTCCTCCCC TCCTCCCCTCTCCCTCCCCTCCTCCTCCCCTCCCTCCTCCCCTCCCCTCC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCCTC CCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCCTCCCCTCCCCTCTCC CCTCCCCTCCCCCTCTCCCCTCCCCTCCCCCTCCTCCCCTCCCCTCCCCT CCTCCCCTCCCCTCTCCTCCTCCCCTCCCCCTCTCCTCCTCCCCTCCCCC TCCCATCCCCTCCTCCCCTCCCCTCCCCCCTTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(709): Show GGCCGCCCCTACTGGGAAGTGAGGAGCACCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCT GTCCGGGAGGGAGGTGGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCC GTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCAAGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGACAG CCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0252 a0001c0007t0001g0252	1	59	0.0169	716	c.241 others(735): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGG CGGGGGGGCTGACCCCCCCCCCCACCTCCCTCCTTGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCT GGCCCAGCGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGTGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(709): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCT GTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCG TCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG TCAGCCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCCCGTCAAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGACAG CCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	59	0.0169	716	c.241 others(735): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGG CGGGGGGGCTGACCCCCCCCCCACCTCCCTCCTTGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGGCTGACCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGC TGGCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(709): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGT CAGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CTGTCCAGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGC CGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	59	0.0169	716	c.241 others(735): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGG GCGGGGGGGCTGACCCCCCCCCCCACCTCCCTCCTGGACAGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGG CTGGCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(709): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGC CGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA18978.hp2 NA18990.hp2 HG01081.hp1 NA18978.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0202 a0001c0001t0003g0182 a0001c0001t0003g0207 a0001c0001t0001g0202 a0001c0001t0003g0182 a0001c0001t0003g0207	3	61	0.0492	716	c.241 others(735): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGG GCGGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGG CTGGCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(709): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCC GCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02293.hp1 NA19003.hp2 HG00408.hp2 HG02293.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0003t0003 a0001c0001t0002 a0001c0001t0003 a0001c0003t0003	a0001c0001t0002g0175 a0001c0001t0003g0197 a0001c0003t0003g0181 a0001c0001t0002g0175 a0001c0001t0003g0197 a0001c0003t0003g0181	3	61	0.0492	716	c.241 others(735): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCG GGCGGGGGGGCTGACCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGG CTGGCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(709): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGG TCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCAAGGAGGGAGGTGGGGGGGGGGGGTCAGCCCCCCCGCCCGGACA GCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	59	0.0169	716	c.241 others(735): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGGC GGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCTTGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCA CCTCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGG CTGGCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MS4A4E_chr11_60195270_60248137	60206512	T T	TGTATATA others(709): Show TGTATATATATATGTATATATATGTATATATATGTATATATATGTATATA TATATGTATATATATATGTATATATATATGTATATATATATGTATATATA TATGTATATATATATGTATATATATGTATATATATGTATATATATATGTA TATATATGTATATATATGTATATATATATGTATATATATGTATATATATA TGTATATATATGTATATATATATGTATATATATATGTATATATATATGTA TATATATATGTATATATATATGTATATATATATGTATATATATGTATATA TATGTATATATATATGTATATATATATGTATATATATGTATATATATATA TGTATATATATGTATATATATATATGTATATATATATGTATATATATATG TATATATATATGTATATATATGTATATATACGTATATATATATGTATATA TATGTATATATATATGTATATATATATACGTATATATATATGTATATATA TGTATATATATACGTATATATATACGTATATATATACGTATATATATATA TGTATATATATATGTATATATATATATGTATATATATATGTATATATATA TGTATATATATATGTATATATATATATGTATATATATATGTATATATATA TGTATATATATATGTATATATATATATGTATATATATATGTATATATATA TGTGTATATATATACAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0153 a0001c0001t0003g0153	1	59	0.0169	716	c.484 others(731): Show c.484-693_484-692insGTGTATATATATACACATATATATATACAT ATATATATACATATATATATATACATATATATATACATATATATATACAT ATATATATACATATATATATATACATATATATATACATATATATATACAT ATATATATACATATATATATATACATATATATATACATATATATATATAC GTATATATATACGTATATATATACGTATATATATACATATATATACATAT ATATATACGTATATATATATACATATATATATACATATATATACATATAT ATATACGTATATATACATATATATACATATATATATACATATATATATAC ATATATATATACATATATATATATACATATATATACATATATATATATAC ATATATATACATATATATATACATATATATATACATATATATACATATAT ATACATATATATATACATATATATATACATATATATATACATATATATAT ACATATATATATACATATATATATACATATATATACATATATATATACAT ATATATACATATATATATACATATATATACATATATATACATATATATAT ACATATATATACATATATATACATATATATATACATATATATATACATAT ATATATACATATATATATACATATATATATACATATATATATACATATAT ATACATATATATACATATATATACATATATATATAC	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(709): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTGTACAGCATGTATACTGTATGTATGTATACTGTATGTATGTA TACTGTATGTATGTATACCGTATATATACACAGTATGTATACCGTATATA TACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATA CACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACA CAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACACA GTATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGT ATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTAT GTATACTGTGTATGCAGTATGTATACAGTATACATACTGCATGCAGTATG TATACTGTATACATACTGCATGCAGTATGTATACTGTATATATACACTAT ACAGTATGTATACTGTATATATACACTATACAGTATGTATACTGTATATA TACACACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATA TATACACACAGTATGTATACTGTATATATACACACAGTATGTATACTGTA TATATACACACAGTATGTATACTGTATATATACACACAGTATGTATACTG TATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0343 a0001c0001t0002g0343	1	118	0.0085	716	c.-75 others(735): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAG TATACATACTGTATAGTGTATATATACAGTATACATACTGTATAGTGTAT ATATACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGCA TGCAGTATGTATACTGTATACATACTGCATACACAGTATACATACTGTGT ATATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTAT ATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATAT ATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATAT ACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGG TATACATACTGTGTATATATACGGTATACATACATACAGTATACATACAT ACAGTATACATACATACAGTATACATGCTGTACACAGTATACATGCTGTA CACAGTATACATGCTGTACACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NINL_chr20_25447697_25590531	25544091	A A	ATATGGAG others(709): Show ATATGGAGAGATATCGCTAAAATGTCTTCCACAGAAGAAGTTACACCAAT GCACAGTCCCACCAGCAACAGATGAGGCCGCCTGTCTATCCCTTGGCAAC ACAGCACATTATCAAACTTTCAGATATTTTTTACAATCTGATAGGTTAAA AAAAAAATCACATCTTCCCATAGGTTTCATTGACAAACAGCTTTTTGAAG GAATAAGCAATTATTCAATGTCTGCTCTATGTAAATCTTAGATAATCTGA TGGAATACAAAAGATATAAAAGAAATGTCCTCAGCTCGCAAGCCTGAAGT CAGGTGTGACTGACGGAATATGCACACAACACCAGTTAGGAACATGAAGC AGCATCTCTGGTCAAAAGGGAGACAGGACACAGTAGCAAGCACCTCAGGC TGTCTCCATCAACACTTGCTGGGCCTCAGTTTCCTCTTATGTAAAATCCG GGCATGAAATCAGATGAATCCCAAGATCCTTTCCATTTTTGAAATTCTAT ATTGAATAGAAAATAGTTAAACTCATTTTAAATCTGGGTTCTTCACAAAT AACCCATGTTGGCCAGCAAGGTGTGACAACGGCACTGTGTCCCCACCCTT CTGACACTGGGCGCAGGGCTGCATTCAGTGCTGGAGCTTCACGACGCTGC TGCCCTTGCCCCAGCCTAGAACCATAATTTGGTTCCAGACAGCCACGACA GGAAAGTGTTAGAATGG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0169 a0003c0003t0004g0169	1	262	0.0038	716	c.-11 others(735): Show c.-11-17494_-11-17493insCCATTCTAACACTTTCCTGTCGTGGC TGTCTGGAACCAAATTATGGTTCTAGGCTGGGGCAAGGGCAGCAGCGTCG TGAAGCTCCAGCACTGAATGCAGCCCTGCGCCCAGTGTCAGAAGGGTGGG GACACAGTGCCGTTGTCACACCTTGCTGGCCAACATGGGTTATTTGTGAA GAACCCAGATTTAAAATGAGTTTAACTATTTTCTATTCAATATAGAATTT CAAAAATGGAAAGGATCTTGGGATTCATCTGATTTCATGCCCGGATTTTA CATAAGAGGAAACTGAGGCCCAGCAAGTGTTGATGGAGACAGCCTGAGGT GCTTGCTACTGTGTCCTGTCTCCCTTTTGACCAGAGATGCTGCTTCATGT TCCTAACTGGTGTTGTGTGCATATTCCGTCAGTCACACCTGACTTCAGGC TTGCGAGCTGAGGACATTTCTTTTATATCTTTTGTATTCCATCAGATTAT CTAAGATTTACATAGAGCAGACATTGAATAATTGCTTATTCCTTCAAAAA GCTGTTTGTCAATGAAACCTATGGGAAGATGTGATTTTTTTTTTAACCTA TCAGATTGTAAAAAATATCTGAAAGTTTGATAATGTGCTGTGTTGCCAAG GGATAGACAGGCGGCCTCATCTGTTGCTGGTGGGACTGTGCATTGGTGTA ACTTCTTCTGTGGAAGACATTTTAGCGATATCTCTCCATA	NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	1/23			chr20	TogoVar
NINL_chr20_25447697_25590531	25544091	A A	ATATGGAG others(709): Show ATATGGAGAGATATCGCTAAAATGTCTTCCACAGAAGAAGTTACACCAAT GCACAGTCCCACCAGCAACAGATGAGGCCGCCTGTCTATCCCTTGGCAAC ACAGCACATTATCAAACTTTCAGATATTTTTTACAATCTGATAGGTTAAA AAAAAAATCACATCTTCCCATAGGTTTCATTGACAAACAGCTTTTTGAAG GAATAAGCAATTATTCAATGTCTGCTCTATGTAAATCTTAGATAATCTGA TGGAATACAAAAGATATAAAAGAAATGTCCTCAGCTCGCAAGCCTGAAGT CAGGTGTGACTGACGGAATATGCACACAACACCAGTTAGGAACATGAAGC AGCATGTCTGGTCAAAAGGGAGACAGGACACAGTAGCAAGCACCTCAGGC TGTCTCCATCAACACTTGCTGGGCCTCAGTTTCCTCTTATGTAAAATCCG GGCATGAAATCAGATGAATCCCAAGATCCTTTCCATTTTTGAAATTCTAT ATTGAATAGAAAATAGTTAAACTCATTTTAAATCTGGGTTCTTCACAAAT AACCCATGTTGGCCAGCAAGGTGTGACAACGGCACTGTGTCCCCACCCTT CTGACACTGGGCGCAGGGCTGCATTCAGTGCTGGAGCTTCACGACGCTGC TGCCCTTGCCCCAGCCTAGAACCATAATTTGGTTCCAGACAGCCACGACA GGAAAGTGTTAGAATGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00741.hp1 HG01109.hp2 others(43): Show HG00544.hp1 HG00741.hp1 HG01109.hp2 HG01255.hp2 HG01884.hp2 HG01891.hp1 HG01981.hp2 HG02027.hp1 HG02486.hp2 HG02572.hp1 HG02723.hp1 HG02818.hp2 HG02895.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03540.hp1 HG03579.hp2 NA18906.hp1 NA18939.hp1 NA18942.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18980.hp2 NA18985.hp2 NA18998.hp1 NA19011.hp2 NA19043.hp1 NA19057.hp2 NA19062.hp2 NA19066.hp1 NA19068.hp1 NA19079.hp1 NA19080.hp1 NA19082.hp1 NA19091.hp1 NA19240.hp2 NA20300.hp1	a0002 a0003 a0008 others(1): Show a0002 a0003 a0008 a0019	a0002c0002 a0002c0008 a0002c0011 others(5): Show a0002c0002 a0002c0008 a0002c0011 a0002c0022 a0003c0003 a0003c0013 a0008c0020 a0019c0024	a0002c0002t0004 a0002c0008t0002 a0002c0011t0002 others(5): Show a0002c0002t0004 a0002c0008t0002 a0002c0011t0002 a0002c0022t0002 a0003c0003t0004 a0003c0013t0002 a0008c0020t0004 a0019c0024t0002	a0002c0002t0004g0174 a0002c0002t0004g0191 a0002c0008t0002g0194 others(43): Show a0002c0002t0004g0174 a0002c0002t0004g0191 a0002c0008t0002g0194 a0002c0008t0002g0195 a0002c0008t0002g0196 a0002c0008t0002g0197 a0002c0008t0002g0198 a0002c0008t0002g0200 a0002c0011t0002g0235 a0002c0011t0002g0236 a0002c0011t0002g0237 a0002c0011t0002g0238 a0002c0022t0002g0199 a0003c0003t0004g0158 a0003c0003t0004g0159 a0003c0003t0004g0160 a0003c0003t0004g0161 a0003c0003t0004g0162 a0003c0003t0004g0163 a0003c0003t0004g0164 a0003c0003t0004g0165 a0003c0003t0004g0166 a0003c0003t0004g0167 a0003c0003t0004g0168 a0003c0003t0004g0170 a0003c0003t0004g0171 a0003c0003t0004g0172 a0003c0003t0004g0173 a0003c0003t0004g0175 a0003c0003t0004g0176 a0003c0003t0004g0177 a0003c0003t0004g0178 a0003c0003t0004g0179 a0003c0003t0004g0180 a0003c0003t0004g0184 a0003c0003t0004g0186 a0003c0003t0004g0187 a0003c0003t0004g0188 a0003c0003t0004g0189 a0003c0003t0004g0190 a0003c0013t0002g0181 a0003c0013t0002g0182 a0003c0013t0002g0185 a0008c0020t0004g0183 a0008c0020t0004g0192 a0019c0024t0002g0193	46	307	0.1498	716	c.-11 others(735): Show c.-11-17494_-11-17493insCCATTCTAACACTTTCCTGTCGTGGC TGTCTGGAACCAAATTATGGTTCTAGGCTGGGGCAAGGGCAGCAGCGTCG TGAAGCTCCAGCACTGAATGCAGCCCTGCGCCCAGTGTCAGAAGGGTGGG GACACAGTGCCGTTGTCACACCTTGCTGGCCAACATGGGTTATTTGTGAA GAACCCAGATTTAAAATGAGTTTAACTATTTTCTATTCAATATAGAATTT CAAAAATGGAAAGGATCTTGGGATTCATCTGATTTCATGCCCGGATTTTA CATAAGAGGAAACTGAGGCCCAGCAAGTGTTGATGGAGACAGCCTGAGGT GCTTGCTACTGTGTCCTGTCTCCCTTTTGACCAGACATGCTGCTTCATGT TCCTAACTGGTGTTGTGTGCATATTCCGTCAGTCACACCTGACTTCAGGC TTGCGAGCTGAGGACATTTCTTTTATATCTTTTGTATTCCATCAGATTAT CTAAGATTTACATAGAGCAGACATTGAATAATTGCTTATTCCTTCAAAAA GCTGTTTGTCAATGAAACCTATGGGAAGATGTGATTTTTTTTTTAACCTA TCAGATTGTAAAAAATATCTGAAAGTTTGATAATGTGCTGTGTTGCCAAG GGATAGACAGGCGGCCTCATCTGTTGCTGGTGGGACTGTGCATTGGTGTA ACTTCTTCTGTGGAAGACATTTTAGCGATATCTCTCCATA	NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	1/23			chr20	TogoVar
NUDT4B_chr1_148743774_148757415	148745798	C C	CTCTCATA others(709): Show CTCTCATAGAGCATGGGTTACAGGGGGAGGAATAGACAACAGCCCAGAAA AATAAGTCAGGTAAAATGATAAGCGTTGGAAGAATAAAGCAAGGAAGAAC AGGATATGCTAGAGGCTGAGGGATGGGAGGAAGATAGCAAGTTTAAATAC GATTGTCAGGAAAAGAAAGTATCATTGGTTACATTTGAACAAAGATCTGA AGGCAGTGAAGGAACAAACTAATGGATATCTGGGAGAAGAGACTCTGAGG CAGAGGGAAGAGTCAAAAGTCACTGGGGCAGGAGGAGGCCTGTTATATTC AAGAAACAGTTAGGAGGCCTATATGTTCAGAATGGAGTTACAGGAAGAAA AATATCAGATGAAGTCACAGATGGAGGCCAGATGAGGTAGGGCCCAGGAC TAATCAAAGACATTGGCTTTTATACTAAATGAGAAGGAGCCATGGAAACT TTTGAGTAGTGGATGACACATTTAGGTTTTCTTTTTTAAATTTTAAATAC ATTTTTATTTCAATAACTTTAAGGGTATAAGTGGTGTTTGGTTACATGGA TGAACTGTATAGTGGTGAAGTCTGATATTTTAGTACCCCTGTCACCCAAG TAGTATACATTGTACCCAATATGCAGTTTTTTATCCCTCACCTTCCTCCC AACCTTCCCCTGTCTGAATCTCAAATGTCCATTATACCACTTTGTAAGCC TTTGTGTACCCATAACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG00733.hp2 others(64): Show HG00609.hp1 HG00609.hp2 HG00733.hp2 HG01070.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01943.hp1 HG01993.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02451.hp1 HG02451.hp2 HG03831.hp1 HG03831.hp2 NA18946.hp2 NA18947.hp2 NA18951.hp1 NA18961.hp1 NA18967.hp1 NA18969.hp2 NA18974.hp1 NA18980.hp2 NA18986.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19076.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0030	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(21): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0006g0000 a0001c0001t0007g0000 a0001c0001t0008g0000 a0001c0001t0009g0000 a0001c0001t0011g0000 a0001c0001t0012g0000 a0001c0001t0013g0000 a0001c0001t0014g0000 a0001c0001t0015g0000 a0001c0001t0017g0000 a0001c0001t0018g0000 a0001c0001t0019g0000 a0001c0001t0020g0000 a0001c0001t0021g0000 a0001c0001t0022g0000 a0001c0001t0023g0000 a0001c0001t0024g0000 a0001c0001t0025g0000 a0001c0001t0027g0000 a0001c0001t0030g0000	67	99	0.6768	716	c.-31 others(727): Show c.-3155_-3154insTCTCATAGAGCATGGGTTACAGGGGGAGGAATAG ACAACAGCCCAGAAAAATAAGTCAGGTAAAATGATAAGCGTTGGAAGAAT AAAGCAAGGAAGAACAGGATATGCTAGAGGCTGAGGGATGGGAGGAAGAT AGCAAGTTTAAATACGATTGTCAGGAAAAGAAAGTATCATTGGTTACATT TGAACAAAGATCTGAAGGCAGTGAAGGAACAAACTAATGGATATCTGGGA GAAGAGACTCTGAGGCAGAGGGAAGAGTCAAAAGTCACTGGGGCAGGAGG AGGCCTGTTATATTCAAGAAACAGTTAGGAGGCCTATATGTTCAGAATGG AGTTACAGGAAGAAAAATATCAGATGAAGTCACAGATGGAGGCCAGATGA GGTAGGGCCCAGGACTAATCAAAGACATTGGCTTTTATACTAAATGAGAA GGAGCCATGGAAACTTTTGAGTAGTGGATGACACATTTAGGTTTTCTTTT TTAAATTTTAAATACATTTTTATTTCAATAACTTTAAGGGTATAAGTGGT GTTTGGTTACATGGATGAACTGTATAGTGGTGAAGTCTGATATTTTAGTA CCCCTGTCACCCAAGTAGTATACATTGTACCCAATATGCAGTTTTTTATC CCTCACCTTCCTCCCAACCTTCCCCTGTCTGAATCTCAAATGTCCATTAT ACCACTTTGTAAGCCTTTGTGTACCCATAACT	NUDT4B	ENSG00000177144.8	transcript	ENST00000322209.5	protein_coding		2975		chr1	TogoVar
PAK2_chr3_196734857_196837647	196811232	T T	TCCCTCCC others(709): Show TCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTCCCTTCCCTCCTTTC CTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTACCCTCCCTTCCCTCC CTCCCTTCCCTTCCTTCCTTCCCTCCTTCCCTTCCTTCCCTCCCTTCCTT CCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCC TTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTCCCTTCCTT CCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTCCCTTCCCTCCCTCCCTTCCTTCCCTTCCCTCCC TTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTT CCCTCCCTTCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCC TCCCTTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCC TCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTC CCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTC CTTCCCTTCCCTCCCTC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0064 a0001c0003t0008g0064	1	148	0.0068	716	c.773 others(731): Show c.773+583_773+584insCCCTCCCTTCCCTCCCTTCCTTCCCTCCCT CCCTTCCCTCCTTTCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTA CCCTCCCTTCCCTCCCTCCCTTCCCTTCCTTCCTTCCCTCCTTCCCTTCC TTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCT CCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTTCCCTCCCTC CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCC CTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCT TCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCCTCCCTCCCTTC CTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCC TTCCCTCCCTTCCTTCCCTCCCTTCCCTCCCTCCCTTCCTTCCCTTCCCT CCCTTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTC CTTCCCTTCCCTCCCTCCCTTCCCTTCCCTCCCTTCCTTCCCTTCCCTCC CTTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCC TCCCCTCCCTCCCTCCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCT CCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(709): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTAT CTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCT ATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	182	0.0055	716	c.-26 others(727): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTC TATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTA TCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATC GATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGA TAGATACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATC TATAGATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(709): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	182	0.0055	716	c.-26 others(727): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTGTCTATC GATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGA TAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATA GATACATCTATCTGTCTATCGATAGATACATCTATATGTCTATCTATAGA TAGATACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATC TATAGATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(709): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCTATAGATAGACATATAGATGTATCTATCGATAGACAG ATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	182	0.0055	716	c.-26 others(727): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGATA GATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATA GATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGA TACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATA CATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATAGA TAGATACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATC TATAGATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PTPRT_chr20_42067756_43194906	43068103	G G	GGAGGGAG others(709): Show GGAGGGAGGAAGGAAGGGGAGGGAGGTGAGGAAGGAAGGGGAGGGAGGGG AGGAAGGAAGGGGAGGGAGGGGAGGAAGGAAGGGGAGGGAGGGGAGGAAG GAAGGGCAGAGAGGAGGGAAGGAAGGAAGGGCAGAGACGAGGGAAGGAAG GAAGGGCAGAGAGGAGGGAAGGAAGGGGTGAGAGGAGGGAAGGAAGGGGG AGAGGAGGGAAGGAAGGGGGGGAGAGGAGAGAAGGAAGGGGGAGAGGAGG GAAGGAAGGGGGAGAGGAGGGAAGGAAGGGGGGAGAGGAGGGAAGGAAGG GGGGAGAGGAGGGAAGGAAGTGGGGAGAGGAGGGAAGGAAGGGGGGAGAG GAGGGAAGGAAGGGGGAGAGGAGGGAAGGAAGGGGGAGAGGAGGGAAGGA AGGGGGAGAGGAGGAAAGGAAGGGGGAGAGGAGGAAAGGAAGGTGGGAGA GGAGGAAAGGAAGGGGGGAGAGGAGGAAAGGAAGGGGGGGAGAGGAGGAA AGGAAGGGGGAGAGGGAGGGAGGAAGGGGGAGGGAGGGAGGGAGGAAGGA AGGAAGGAAGCAAGCAAGCAAGCAAAGCTGCTCAGAAGCTAACTTCAGGA AGAAGGGAGGGAAGCTAACTTCAGAAGCTAACTTCAGGAGGGAGGGAAGG AAGGAAGGGAAGAAGGAGGGAAGGGAGGTAGGAAGGAGGGAGGGAAGGGA GGAAGGGAGGAGGGAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0016 a0003c0020t0016	a0003c0020t0016g0029 a0003c0020t0016g0029	1	16	0.0625	716	c.88+ others(735): Show c.88+121542_88+121543insTTTCCCTCCTCCCTTCCTCCCTTCCC TCCCTCCTTCCTACCTCCCTTCCCTCCTTCTTCCCTTCCTTCCTTCCCTC CCTCCTGAAGTTAGCTTCTGAAGTTAGCTTCCCTCCCTTCTTCCTGAAGT TAGCTTCTGAGCAGCTTTGCTTGCTTGCTTGCTTCCTTCCTTCCTTCCTC CCTCCCTCCCTCCCCCTTCCTCCCTCCCTCTCCCCCTTCCTTTCCTCCTC TCCCCCCCTTCCTTTCCTCCTCTCCCCCCTTCCTTTCCTCCTCTCCCACC TTCCTTTCCTCCTCTCCCCCTTCCTTTCCTCCTCTCCCCCTTCCTTCCCT CCTCTCCCCCTTCCTTCCCTCCTCTCCCCCTTCCTTCCCTCCTCTCCCCC CTTCCTTCCCTCCTCTCCCCACTTCCTTCCCTCCTCTCCCCCCTTCCTTC CCTCCTCTCCCCCCTTCCTTCCCTCCTCTCCCCCTTCCTTCCCTCCTCTC CCCCTTCCTTCTCTCCTCTCCCCCCCTTCCTTCCCTCCTCTCCCCCTTCC TTCCCTCCTCTCACCCCTTCCTTCCCTCCTCTCTGCCCTTCCTTCCTTCC CTCGTCTCTGCCCTTCCTTCCTTCCCTCCTCTCTGCCCTTCCTTCCTCCC CTCCCTCCCCTTCCTTCCTCCCCTCCCTCCCCTTCCTTCCTCCCCTCCCT CCCCTTCCTTCCTCACCTCCCTCCCCTTCCTTCCTCCCTC	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
RFX2_chr19_5988164_6115500	6069986	T T	TGGATGGG others(709): Show TGGATGGGATGGAATGGGATGTGGATGGGATGGAATGGGATGTGGATGGG ATGGAATGGGATGTGGATGGGATGGAATGGGATGTGGATGGGATAGAATC GGATGTGAATGGGGTGGAATGGGATATGATGGGGTGGGATGGGATGTGGA TGGGATGGGATGGGATGTGGATGGGATGGAATGGGATGTGGATGGGATGG AATGGGATGTGGATGGGATAGAATCGGATGTGAATGGGGTGGAATGGGAT GTGAATGGGGTGGGATGGGATGTGGATGGGGTGGGATGGGATGGGATGTG GATGGGATGGAATGGGATGTGGATGGGATGTGATGGGATGTGGATGGGGT GGAACGGGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGG ATGTGGATGGGGTAGGATGGGATGTGGATGGGGTGGGATGAGATGTGGAT GGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGGG ATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGG AATGGGATGTGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGGGAT GTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGG GGTAGGATGGGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAA GGGATGTGGATAGAGTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02630.hp1 others(3): Show HG02055.hp2 HG02109.hp2 HG02630.hp1 HG02809.hp1 HG03139.hp1 HG03486.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0005 a0006c0009t0005 a0001c0001t0005 a0006c0009t0005	a0001c0001t0005g0302 a0001c0001t0005g0303 a0001c0001t0005g0304 others(3): Show a0001c0001t0005g0302 a0001c0001t0005g0303 a0001c0001t0005g0304 a0001c0001t0005g0306 a0001c0001t0005g0307 a0006c0009t0005g0305	6	55	0.1091	716	c.-8- others(733): Show c.-8-22483_-8-22482insCACTCTATCCACATCCCTTTCCATCCCA TCCACATCTCATCCCACCCCATCCACATCCCATCCTACCCCATCCACATC CCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATTCCA CCCCATCCACATCCCATCACATCCCATCCACATCCCATTCCATCCCATCC CATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCACATCTC ATCCCACCCCATCCACATCCCATCCTACCCCATCCACATCCCTTTCCATC CCATCCACATCTCATCCCACCCCATCCACATCCCGTTCCACCCCATCCAC ATCCCATCACATCCCATCCACATCCCATTCCATCCCATCCACATCCCATC CCATCCCACCCCATCCACATCCCATCCCACCCCATTCACATCCCATTCCA CCCCATTCACATCCGATTCTATCCCATCCACATCCCATTCCATCCCATCC ACATCCCATTCCATCCCATCCACATCCCATCCCATCCCATCCACATCCCA TCCCACCCCATCATATCCCATTCCACCCCATTCACATCCGATTCTATCCC ATCCACATCCCATTCCATCCCATCCACATCCCATTCCATCCCATCCACAT CCCATTCCATCCCATCCACATCCCATTCCATCCCATCC	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RPEL1_chr10_103240887_103253016	103251100	A A	ACCATCAC others(709): Show ACCATCACCACCACCACCATCACCACCACCACCACCATCACCACCTCCAC CACCATCACCACCACCAACACCACCACCACCATCACCACCTCCACCACCA TCACCACCTCCACCACCACCATCACCACCTCCACCACAACCACCATCACC ACCACCACCATCACCACCTCCACCACCATCACCACCTCCACCACCATCAC CACCTCCACCATCACCACCACCACCACTATGACCACCTCCACCACCACCA CCACCACCACCATCACCACCTCCACCACCATCATCACCTCCACCACAACC ACCATCACCACCACCACCATCACCACCTGCACCACCATCACCACCTCCAC CACCATCACCACCACCTCCACCACTATCACCACCTCCACCACCACCACCA CCACCATCACCACCTCCACCACCATCACCACCTCCACCACCTCCACCACC ATCACCACCTCCACCACTACCACCACCACCACCAACACCACCACCATCAC CACCACCACCATCACCACCACCACCATCACCACCACCACCATCATCACCA CCACCACCACCACCACCATCACCACCTCCACCACCATCACCACCTCCACC ACCATCACCACCTCCACTACCATCACCACCTCCACCACCACCACCATCAC CATCACCACCACCACCACCTCCACCACCATCATCACCACCACATCACCAC CACCACCACCATCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	218	0.0046	716	c.44 others(727): Show c.4417_*4418insCCATCACCACCACCACCATCACCACCACCACCAC CATCACCACCTCCACCACCATCACCACCACCAACACCACCACCACCATCA CCACCTCCACCACCATCACCACCTCCACCACCACCATCACCACCTCCACC ACAACCACCATCACCACCACCACCATCACCACCTCCACCACCATCACCAC CTCCACCACCATCACCACCTCCACCATCACCACCACCACCACTATGACCA CCTCCACCACCACCACCACCACCACCATCACCACCTCCACCACCATCATC ACCTCCACCACAACCACCATCACCACCACCACCATCACCACCTGCACCAC CATCACCACCTCCACCACCATCACCACCACCTCCACCACTATCACCACCT CCACCACCACCACCACCACCATCACCACCTCCACCACCATCACCACCTCC ACCACCTCCACCACCATCACCACCTCCACCACTACCACCACCACCACCAA CACCACCACCATCACCACCACCACCATCACCACCACCACCATCACCACCA CCACCATCATCACCACCACCACCACCACCACCATCACCACCTCCACCACC ATCACCACCTCCACCACCATCACCACCTCCACTACCATCACCACCTCCAC CACCACCACCATCACCATCACCACCACCACCACCTCCACCACCATCATCA CCACCACATCACCACCACCACCACCATCACCT	RPEL1	ENSG00000235376.5	transcript	ENST00000441178.2	protein_coding		3085		chr10	TogoVar
SEL1L2_chr20_13844247_13995614	13934358	C C	CATATATA others(709): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	166	0.0060	716	c.115 others(733): Show c.115-2588_115-2587insATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934373	C C	CATATATA others(709): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCAT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	233	0.0043	716	c.115 others(733): Show c.115-2603_115-2602insATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934373	C C	CATATATA others(709): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATTCCATATATATATATATTCCA TATATATATTCCATATATATATATATTCCATATATATATATTCCATATAT ATATTCCATATATATATATTCCATATATATATTCCATATATATATTCCAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATTCCATAT ATATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATTCCATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATCTATTCCATATATATATATATTCCATA TATATATCTATTCCATATATATATCTATTCCATATATATATCTATTCCAT ATATATATCTATTCCAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	233	0.0043	716	c.115 others(733): Show c.115-2603_115-2602insATGGAATAGATATATATATGGAATAGAT ATATATATGGAATAGATATATATATGGAATAGATATATATATGGAATATA TATATATATGGAATAGATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATGGAATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATATGGAATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATGGAATATAT ATATGGAATATATATATGGAATATATATATATGGAATATATATATGGAAT ATATATATATGGAATATATATATATATGGAATATATATATGGAATATATA TATATATGGAATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(709): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCC CTTCCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCCCTCCCCTCCC CCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCT CCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCACCCCCTC CCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCC CCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCC CTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTC CCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0083 a0001c0001t0036g0083	1	40	0.0250	716	c.77- others(733): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCC CCACCCCTTCCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCCCTCC CCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCC TCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCAC CCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCC CCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCC TTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTC CCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(709): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCC CTTCCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCCCTCCCCTCCC CCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCT CCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCACCCCCTC CCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCC CCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCC CTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTC CCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0030 a0001c0001t0019g0030	1	45	0.0222	716	c.22+ others(733): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCC CCACCCCTTCCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCCCTCC CCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCC TCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCAC CCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCC CCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCC TTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTC CCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLAIN1_chr13_77692687_77769229	77703950	A A	AAATATAT others(709): Show AAATATATATACATATGTTTTATAAGTGTATATATACACATATAAAATAT ATATACATATGTTTTATAAGTGTATATATACACATATAAAATATATATAC ATATGTTTTATATGTGTATATATACACATATAAAATATATATACATATGT TTTATATGTGTATATATACACATATAAAATATATATACATATGTTTTATA TGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTA TATATACACATATAAAATATATATACATATGTTTTATATGTGTATATATA CACATATAAAATATATATACATATGTTTTATATGTGTATATATACACATA TAAAATATATATACATATGTTTTATATGTGTATATATACACATATAAAAT ATATATACATATGTTTTATATGTATATATACATATAAAATATATATACAT ATGTTTTATATGTATATATATACATATAAAATATATATACATATAAAATA TATACATATAAAATATATATGTTTTATATGTATATATACATATAAAATAT ATATACATATGTTTTATATGTATATATATACATATAAAACATATATACAT ATGTTTTATATGTATATATACATATAAAACATATATATATGTTTTATATG TATATATATACATATAAATATATATACATATGTTTTATATGTGTATATAT ACATAGAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	293	0.0034	716	c.626 others(733): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATATAAAATATATATACAT ATGTTTTATATGTGTATATATACACATATAAAATATATATACATATGTTT TATATGTGTATATATACACATATAAAATATATATACATATGTTTTATATG TGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTATA TATACACATATAAAATATATATACATATGTTTTATATGTGTATATATACA CATATAAAATATATATACATATGTTTTATATGTGTATATATACACATATA AAATATATATACATATGTTTTATATGTGTATATATACACATATAAAATAT ATATACATATGTTTTATATGTATATATACATATAAAATATATATACATAT GTTTTATATGTATATATATACATATAAAATATATATACATATAAAATATA TACATATAAAATATATATGTTTTATATGTATATATACATATAAAATATAT ATACATATGTTTTATATGTATATATATACATATAAAACATATATACATAT GTTTTATATGTATATATACATATAAAACATATATATATGTTTTATATGTA TATATATACATATAAATATATATACATATGTTTTATATGTGTATATATAC ATAGAAAATATATATAATATATATACATATGTTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC27A5_chr19_58493333_58516992	58502500	T T	TAGAGTAG others(709): Show TAGAGTAGTGAGTGAGTGGATGGATGGGTGGACAGTTAGAGTAGTGAGTG AGTAGATGGATGGGTGGACAGAGTAGTGAGTGAGAAGATGGATGTGTGGA CAGAGTAGTGAGTGAGAAGATGGATGGGTGAACAGTTAGAGTAGTGAGTG AGTAGATGGATGGGTGGACAGTTAGAGTAGTGAGTGAGTAGATGGATGGG TGGACAGAGTAGTGAGTGAGAAGATGGATGTGTGGACAGAGTAGTGAGTG AGAAGATGGATGGGTGAACAGTTAGAGTAGTGAGTGAGTAGATGGATGGG TGGACAGTTAGAGTAGTGAGTGAGTAGATGGATGGGTGGACAGAGTAGTG AGTGAGAAGATGGATGTGTGGACAGTTAGAGTAGTGAGTGAGAAGATGGA TGGGTGAACAGAGTAGTGAGTGAGAAGATGGATGGGTGAACAGTTAGAGT AGTGAGTGAGTGGATGGATGGGTGGACAGTTAGAGTAGTGAGTGAGTAGA TGGATGGGTGGACAGAGTAGTGAGTGAGAAGATGGATGTGTGGACAGAGT AGTGAGTGAGAAGATGGATGGGTGAACAGTTAGAGTAGTGAGTGAGTAGA TGGATGGGTGGACAGTTAGAGTAGTGAGTGAGTAGATGGATGGGTGGACA GAGTAGTGAGTGAGAAGATGGATGTGTGGACAGTTAGAGTAGTGAGTGAG AAGATGGATGGGTGAAC	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	417	0.0024	716	c.105 others(735): Show c.1058-1091_1058-1090insGTTCACCCATCCATCTTCTCACTCAC TACTCTAACTGTCCACACATCCATCTTCTCACTCACTACTCTGTCCACCC ATCCATCTACTCACTCACTACTCTAACTGTCCACCCATCCATCTACTCAC TCACTACTCTAACTGTTCACCCATCCATCTTCTCACTCACTACTCTGTCC ACACATCCATCTTCTCACTCACTACTCTGTCCACCCATCCATCTACTCAC TCACTACTCTAACTGTCCACCCATCCATCCACTCACTCACTACTCTAACT GTTCACCCATCCATCTTCTCACTCACTACTCTGTTCACCCATCCATCTTC TCACTCACTACTCTAACTGTCCACACATCCATCTTCTCACTCACTACTCT GTCCACCCATCCATCTACTCACTCACTACTCTAACTGTCCACCCATCCAT CTACTCACTCACTACTCTAACTGTTCACCCATCCATCTTCTCACTCACTA CTCTGTCCACACATCCATCTTCTCACTCACTACTCTGTCCACCCATCCAT CTACTCACTCACTACTCTAACTGTCCACCCATCCATCTACTCACTCACTA CTCTAACTGTTCACCCATCCATCTTCTCACTCACTACTCTGTCCACACAT CCATCTTCTCACTCACTACTCTGTCCACCCATCCATCTACTCACTCACTA CTCTAACTGTCCACCCATCCATCCACTCACTCACTACTCT	SLC27A5	ENSG00000083807.10	transcript	ENST00000263093.7	protein_coding	3/9			chr19	TogoVar
SLC66A2_chr18_79897420_79956653	79952548	A A	AAGGGTGA others(709): Show AAGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGT GAGGGGCGCGCGGGTGAAGAGTGAGGGGAGCGTGGGTGAGGGGTGAGGCG TGAGTGATGCGCGAGTGAAGAGTGAGGGGAGCGTGGGTGAGGGGTGAGGG GCGCGCGGGTGAGGGGTGAGGGGCGCGCTGGTGAGGGGTGAGGGGCGCGC GGGTGAAGAGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGTGAGGGGCGCG CCGGTGAAGAGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGTGAGGGGCGC GCCGGTGAAGGGTGAGGGGCGCCTGGGTGAGGGGTGAGGGGTGAGGGGCG CGCGGGTGAAGGGTGAGGGGCGCCTGGGTGAGGGGTGAGGGGTGAGGGGC GCGCCGGTGAAGGGTGAGGGGCGCCTGGGTGAGGGGTGAGGGGTGAGGGG CGCGCGGGTGAAGAGTGAGGGGCGCGCTGGTGAGGCGTGAGTGATGCGCG AGTGAAGGGTGAGGGGCGCCTGGGTGAGCGGTGAGGGGTGAGGGGCGCGC CGGTGAAGGGTGAGGGGAGCGTGGGTGAGGGGTGAGGGGTGAGGGGCGCG CCGGTGAAGGGTGAGGGGAGCGTGGGTGAGGGGTGAGGCGTGAGTGATGC GCGAGTGAAGGGTGAGGGGAGCGTGGGTGAGGGGTGAAGGGTGCGCGAGT GATGGGCGGGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0281 a0001c0001t0007g0281	1	350	0.0029	716	c.-10 others(727): Show c.-1068_-1067insACACACACCCGCCCATCACTCGCGCACCCTTCAC CCCTCACCCACGCTCCCCTCACCCTTCACTCGCGCATCACTCACGCCTCA CCCCTCACCCACGCTCCCCTCACCCTTCACCGGCGCGCCCCTCACCCCTC ACCCCTCACCCACGCTCCCCTCACCCTTCACCGGCGCGCCCCTCACCCCT CACCGCTCACCCAGGCGCCCCTCACCCTTCACTCGCGCATCACTCACGCC TCACCAGCGCGCCCCTCACTCTTCACCCGCGCGCCCCTCACCCCTCACCC CTCACCCAGGCGCCCCTCACCCTTCACCGGCGCGCCCCTCACCCCTCACC CCTCACCCAGGCGCCCCTCACCCTTCACCCGCGCGCCCCTCACCCCTCAC CCCTCACCCAGGCGCCCCTCACCCTTCACCGGCGCGCCCCTCACCCCTCA CCCCTCACCCGCGCTCCCCTCACTCTTCACCGGCGCGCCCCTCACCCCTC ACCCCTCACCCGCGCTCCCCTCACTCTTCACCCGCGCGCCCCTCACCCCT CACCAGCGCGCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCA CGCTCCCCTCACTCTTCACTCGCGCATCACTCACGCCTCACCCCTCACCC ACGCTCCCCTCACTCTTCACCCGCGCGCCCCTCACCCCTCACCCGCGCGC CCCTCACCCCTCACCCGCGCGCCCCTCACCCT	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		896		chr18	TogoVar

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