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
GALNT9_chr12_132191372_132334589	132241079	A A	ACTTCCCG others(756): Show ACTTCCCGGGGCCCTCCCTATCCCCATTAAACACACAACACACCCCCTTC CCGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCAGGG GCCCTCCCTATACCCATTACACACACAACACACCCCCTTCCCGGGGCCTT CCCTATACCCATTACACACACGCCACACCCCCTTCCAGGGGCCCTCCCTA TACCCATTACACACACGCCACACCCCCTTCCCAGGGCCCTCCCTATACCC ATTACACACACGCCACACCCCCTTCCAGGGGCCCTCCCTATACCCATTAC ACACACAACACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACA CGCCACACCCCCTTCCCGGAGCCCTCCCTATACCCATTACACACACGCCA CACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACAACACACAC ACTTCCCGGAGCCCTCCCTATACCCATTACACACACGCCACACACCCTTC CAGGGGCCCTCCCTATACCCATTAGACACACAACACACCCCCTTCCCGGG GCCTTCCCTATACCCATTACACACACGCCACACCCCCTTCCCAGGGCCCT CCCTATACCCATTACACACACAACACACACCCTTCCCGGAGCCCTCCCTA TACCCATTACACACACAACACACACCCTTCCCGGAGCCCCCCCTATACCC ATTACACACACGCCACACCCCCTTCCAGGGGCCCTCCCTATACCCATTAC ACACACAACACACC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0105 a0001c0002t0001g0105	1	183	0.0055	763	c.107 others(782): Show c.1077+6830_1077+6831insGGTGTGTTGTGTGTGTAATGGGTATA GGGAGGGCCCCTGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGGG GGCTCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCTC CGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCTGGGA AGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAAGGCCCCGGGAAGGGG GTGTGTTGTGTGTCTAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTG GCGTGTGTGTAATGGGTATAGGGAGGGCTCCGGGAAGTGTGTGTGTTGTG TGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGT AATGGGTATAGGGAGGGCTCCGGGAAGGGGGTGTGGCGTGTGTGTAATGG GTATAGGGAGGGCCCCGGGAAGGGGGTGTGTTGTGTGTGTAATGGGTATA GGGAGGGCCCCTGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAG GGCCCTGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCC CTGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAAGGCCCCGGGA AGGGGGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGT GTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTG TTGTGTGTTTAATGGGGATAGGGAGGGCCCCGGGAAG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241351	C C	CCTTCCCG others(756): Show CCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTC CCGGGACCCTCCCTATACCAATTACACACACAACACACACCCTTCCAGGG GCCCTCCCTATACCCATTACACACATGCCACACCCCCTTCCCAGGGCCCT CCCTATCCCCATTACACACACAACACACCCCCTTCCAGGGGCCCTCCCTA TACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCC ATTACACACACGCCACACACCCTTCCCTTGGCCGTCCCTATACCCATTAC ACACACGCCACACCACCTTCCCGGGGCCCTCCCTATACCCATTACACACA CAACACACACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACACCA CACCCCCTTCCTGGGGCCCTCCCTATACCCATTACACACACGCCACACAC CCTTCCCTTGGCCGTCCCTATACCCATTACACACACACCACACACCCTTC CAGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCCTTG GCCGTCCCTATACCCATTACACACACGCCACACCACCTTCCCGGGGCCCT CCCTATACCCATTACACACACGCCACACACCCTTACAGGGGCCCTCCCTA TACCCATTACACACACGCCACACCCCCTTCCTGGGGACCTCCCTATACCC ATTACACACACGCCACACACCCTTCCCGGGGCCCTCCCTATACCCATTAC ACACACAACACACA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	183	0.0055	763	c.107 others(782): Show c.1077+6558_1077+6559insTGTGTGTTGTGTGTGTAATGGGTATA GGGAGGGCCCCGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAG GTCCCCAGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCC CTGTAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGA AGGTGGTGTGGCGTGTGTGTAATGGGTATAGGGACGGCCAAGGGAAGGGT GTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTG GTGTGTGTGTAATGGGTATAGGGACGGCCAAGGGAAGGGTGTGTGGCGTG TGTGTAATGGGTATAGGGAGGGCCCCAGGAAGGGGGTGTGGTGTGTGTGT AATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGG GTATAGGGAGGGCCCCGGGAAGGTGGTGTGGCGTGTGTGTAATGGGTATA GGGACGGCCAAGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAG GGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCC CTGGAAGGGGGTGTGTTGTGTGTGTAATGGGGATAGGGAGGGCCCTGGGA AGGGGGTGTGGCATGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGT GTGTGTTGTGTGTGTAATTGGTATAGGGAGGGTCCCGGGAAGGGTGTGTG GCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241883	A A	ACACACCC others(756): Show ACACACCCCCTTCCCAGGGCCCTCCCTATACCCATTACACACACAACACA CACTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTT CCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGG GGCCCTCCCTATACCCATTACACACACACCACACCCCCTTCCCGGGGCCC TCCCTATACCCATTACACACACAACACACACCCTTCCCGGGGCCCTCCCT ATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACC CATTACACACACGCCACACCCCCTTCCAGGGGCCCTCCCTATACCCATTA GACACACAACACACCCCCTTCCCGGGGCCTTCCCTATACCCATTACACAC ACGCCACACCCCCTTCCAGGGGCCCTCCCTATACCCATTACACACACGCC ACACCCCCTTCCCAGGGCCCTCCCTATACCCATTACACACACGCCACACC CCCTTCCCAGGGCCCTCCCTATACCCATTACACACACGCCACGCCCCCTT CCCGGGGCCCTCCCTATACCCATTACACACACGCCACGCCCCCTTCCCGG GGCCCTCCCTATACCCATTACACACACGCCACGCCCCCTTCCCGGGGCCC TCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCT ATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACC CATTACACACACGC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0134 a0001c0002t0001g0134	1	183	0.0055	763	c.107 others(782): Show c.1077+6026_1077+6027insGCGTGTGTGTAATGGGTATAGGGAGG GCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCC GGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAA GGGGGCGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGG CGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGCGTGG CGTGTGTGTAATGGGTATAGGGAGGGCCCTGGGAAGGGGGTGTGGCGTGT GTGTAATGGGTATAGGGAGGGCCCTGGGAAGGGGGTGTGGCGTGTGTGTA ATGGGTATAGGGAGGGCCCCTGGAAGGGGGTGTGGCGTGTGTGTAATGGG TATAGGGAAGGCCCCGGGAAGGGGGTGTGTTGTGTGTCTAATGGGTATAG GGAGGGCCCCTGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGG GCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCC GGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAA GGGGGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGG TGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGG CGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGTGTGTGTTGTGTGT GTAATGGGTATAGGGAGGGCCCTGGGAAGGGGGTGTG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GUCY1A2_chr11_106669019_107023476	106709684	A A	ATTATATA others(756): Show ATTATATACACGTATAGAATATATAGTTATATACACGTATAGAATATATA GTTATATACACGTATAGAATATATAGTTATATACACGTATAGAATATATA GTTATATATTATATACACGTATAGAATATATAGTTATATACACGTATAGA ATATATAGTTATATACACGTATAGAATATATAGTTATATACACGTATAGA ATATATAGTTATATACACGTATAGAATATATAGTTATATATTATATACAC GTATAGAATATATAGTTATATATTATATACACGTATAGAATATATAGTTA TATACACGTATAGAATATATAGTTATATACACGTATAGAATATATAGTTA TATACACGTATAGAATATATAGTTATATACACGTATAGAATATATAGTTA TATATTATATACACGTATAGAATATATAGTTATATATTATATACACGTAT AGAATATATAGTTATATATTATATACACGTATAGAATATATAGTTATATA CACGTATAGAATATATAGTTATATACACGTATAGAATATATAGTTATATA CACGTATAGAATATATAGTTATATATTATATACACGTATAGAATATATAG TTATATACACGTATAGAATATATAGTTATATACACGTATAGAATATATAG TTATATATTATATACACGTATAGAATATATAGTTATATACACGTATAGAA TATATAGTTATATACACGTATAGAATATATAGTTATATATTATATACACG TATAGAATATATAG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0202 a0001c0002t0001g0202	1	256	0.0039	763	c.183 others(782): Show c.1837-1019_1837-1018insCTATATATTCTATACGTGTATATAAT ATATAACTATATATTCTATACGTGTATATAACTATATATTCTATACGTGT ATATAACTATATATTCTATACGTGTATATAATATATAACTATATATTCTA TACGTGTATATAACTATATATTCTATACGTGTATATAACTATATATTCTA TACGTGTATATAATATATAACTATATATTCTATACGTGTATATAACTATA TATTCTATACGTGTATATAACTATATATTCTATACGTGTATATAACTATA TATTCTATACGTGTATATAATATATAACTATATATTCTATACGTGTATAT AATATATAACTATATATTCTATACGTGTATATAATATATAACTATATATT CTATACGTGTATATAACTATATATTCTATACGTGTATATAACTATATATT CTATACGTGTATATAACTATATATTCTATACGTGTATATAACTATATATT CTATACGTGTATATAATATATAACTATATATTCTATACGTGTATATAATA TATAACTATATATTCTATACGTGTATATAACTATATATTCTATACGTGTA TATAACTATATATTCTATACGTGTATATAACTATATATTCTATACGTGTA TATAACTATATATTCTATACGTGTATATAATATATAACTATATATTCTAT ACGTGTATATAACTATATATTCTATACGTGTATATAACTATATATTCTAT ACGTGTATATAACTATATATTCTATACGTGTATATAA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(756): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT AATATATATTTTATATATATTATATATTTTATATATAATATATATTTTAT ATATATTATATATTTTATATATAATATATATTTTATATATAATATATATT TTATATATATTATATATTTTATATATAATATATATTTTATATATATTATA TATTTTATATATAATATATATATATTATATATAATATATATATTATATAA AATATATAATATATATCTTATATATATCATATATTTTATATATATCATAT ATTTTATATATATCATATATTTTATATATAATATATATTATATATACATT ATATAATATATATTATATTATATATAATATATTATATAATATATATTATA TATTATACGTAATATATAATGTATATTATATATAATATACATTATATAAT GTATATTATATATAATATACATTATATACAATGTATATTATATATAATAT ACATTGTATATAATGTATATTACATATAATATACATTATATAATGTATAT TACATATAATATACATTGTATATAATGTATATTACATATAATATACATTG TATATAATGTATATTACATATAATATACATTATATATAATGTGTATATTA CATGTAATATACATTATATATAATGTATATTATATGTAATATATACATTA TATAATGTGTATATTATATGTAATATACATTATATAATGTATACATTGTA TATAATGTATATTA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	350	0.0029	763	c.94- others(776): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATAATATATATTTTATATATATTATATATTTTATA TATAATATATATTTTATATATATTATATATTTTATATATAATATATATTT TATATATAATATATATTTTATATATATTATATATTTTATATATAATATAT ATTTTATATATATTATATATTTTATATATAATATATATATATTATATATA ATATATATATTATATAAAATATATAATATATATCTTATATATATCATATA TTTTATATATATCATATATTTTATATATATCATATATTTTATATATAATA TATATTATATATACATTATATAATATATATTATATTATATATAATATATT ATATAATATATATTATATATTATACGTAATATATAATGTATATTATATAT AATATACATTATATAATGTATATTATATATAATATACATTATATACAATG TATATTATATATAATATACATTGTATATAATGTATATTACATATAATATA CATTATATAATGTATATTACATATAATATACATTGTATATAATGTATATT ACATATAATATACATTGTATATAATGTATATTACATATAATATACATTAT ATATAATGTGTATATTACATGTAATATACATTATATATAATGTATATTAT ATGTAATATATACATTATATAATGTGTATATTATATGTAATATACATTAT ATAATGTATACATTGTATATAATGTATATTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
IFFO2_chr1_18899280_18961676	18925816	A A	ATGGATGG others(756): Show ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATTGGCTGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGA TGGATTGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATTGGTTGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATG GATGGTTGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGG ATGGTTGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGA GGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGT	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18962.hp2 HG00423.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0263 a0001c0001t0003g0353 a0001c0001t0002g0263 a0001c0001t0003g0353	2	376	0.0053	763	c.666 others(780): Show c.666-4696_666-4695insACCATCCATCCATCCATCCATCCATCCA TCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAAC CAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAACC AACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA ACCAATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCAATCCATCCCTCCATCCATCCATC CATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCC AACCAATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCA TCCATCCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATC CATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCAGCCAATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAAC CAATCCATCCATCCATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925816	A A	ATGGATGG others(756): Show ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATTGGCTGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGA TGGATTGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATTGGTTGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATG GATGGTTGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGG ATGGTTGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGA GGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0244 a0001c0001t0031g0244	1	376	0.0027	763	c.666 others(780): Show c.666-4696_666-4695insACCATCCATCCATCCATCCATCCATCCA TCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAAC CAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAACC AACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCAATCCATCCCTCCATCCATCCATC CATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCC AACCAATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCA TCCATCCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATC CATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCAGCCAATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAAC CAATCCATCCATCCATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925816	A A	ATGGATGG others(756): Show ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATTGGCTGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGA TTGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT TGGTTGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATG GTTGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGG TTGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGAGGGA TGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	376	0.0027	763	c.666 others(780): Show c.666-4696_666-4695insACCATCCATCCATCCATCCATCCATCCA TCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACC AACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCAACCAATCCATCCCTCCATCCATC CATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCAACCATCCATCCATCCATCCATCCAACCATCCATCCATCC ATCCAACCAATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCA TCCATCCATCCATCCATCCAACCATCCATCCAACCAATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATC CATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCAGCCAATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAAC CAATCCATCCATCCATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925820	A A	ATGGATGG others(756): Show ATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGA TGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGATTGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATTGGTTGGATGGATGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGATGGCTGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGTTGGATGGATGGATGGATGGATGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGA GGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATG GATGGATGGATGGT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0313 a0001c0001t0056g0313	1	376	0.0027	763	c.666 others(780): Show c.666-4700_666-4699insACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATC CAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC AACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCAATCCATCCCTCCATCCATCCATC CATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAA CCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATC CATCCATCCATCCATCCAGCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATC CATCCATCCAACCAATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925820	A A	ATGGATGG others(756): Show ATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGA TGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATTGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATTGGTTGGATGGATGGTTGGATGGATGGATGGATGGATGGATG GATGGATGGATGGCTGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGTTGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGAGGGA TGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATG GATGGATGGATGGT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0326 a0001c0001t0003g0326	1	376	0.0027	763	c.666 others(780): Show c.666-4700_666-4699insACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATC CAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC AACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCAT CCATCCATCCATCCATCCATCCATCCAACCAATCCATCCCTCCATCCATC CATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCAACCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACC AATCCATCCATCCATCCATCCAGCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATC CATCCATCCAACCAATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925820	A A	ATGGATGG others(756): Show ATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGA TGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATTGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATTGGTTGGATGGATGGTTGGATGGATGGATGGATGGATGGATG GATGGATGGATGGCTGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGTTGGATGGATGGATGGATGGATGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGA GGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATG GATGGATGGATGGT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	376	0.0027	763	c.666 others(780): Show c.666-4700_666-4699insACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAAC CAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC AACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCAATCCATCCCTCCATCCATCCATC CATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAA CCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATC CATCCATCCATCCATCCATCCAGCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATC CATCCATCCAACCAATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925820	A A	ATGGATGG others(756): Show ATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGA TGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATTGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATTGGTTGGATGGATGGTTGGATGGATGGATGGATGGATGGATG GATGGATGGATGGCTGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGTTGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGAGGGA TGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATG GATGGATGGATGGT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0225 a0001c0001t0015g0225	1	376	0.0027	763	c.666 others(780): Show c.666-4700_666-4699insACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATC CAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC AACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCAACCAATCCATCCCTCCATCCATC CATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCAACCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACC AATCCATCCATCCATCCATCCAGCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATC CATCCATCCAACCAATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925853	T T	TGGATTGG others(756): Show TGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTG GTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGG ATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGG ATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGG ATGGATGGAGGGATGGAGGGATGGATTGGTTGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTG GTTGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGG ATGGATTGGTTGGA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0096 a0001c0001t0041g0096	1	376	0.0027	763	c.666 others(780): Show c.666-4733_666-4732insTCCAACCAATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCAT CCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATC CATCCATCCATCCATCCATCCATCCATCCATCCAACCAACCAACCAATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCA TCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATC CATCCAACCAATCCATCCCTCCATCCCTCCATCCATCCATCCAACCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATC CATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATCCATCC ATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAT CCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CAACCAACCAATCCATCCATCCATCCATCCATCCATCCAACCAATCCATC CATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCAACCAATCC	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925853	T T	TGGATTGG others(756): Show TGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGAT GGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGG ATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGTTGGATGGATGGATGGATGGATGGAGGGATGGATTGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATG GATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGG ATGGATTGGTTGGA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	376	0.0027	763	c.666 others(780): Show c.666-4733_666-4732insTCCAACCAATCCATCCATCCATCCATCC ATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCAACCAT CCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCA TCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAAT CCATCCCTCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAACCATC CATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAACCATCC ATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCAACCAA TCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAACCAATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATC CATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCAT CCATCCATCCATCCATCCATCCATCCAACCAATCC	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925853	T T	TGGATTGG others(756): Show TGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGG ATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGA TGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG TTGGATGGATGGATGGATGGATGGAGGGATGGATTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATG GATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGG ATGGATTGGTTGGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	376	0.0027	763	c.666 others(780): Show c.666-4733_666-4732insTCCAACCAATCCATCCATCCATCCATCC ATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCAACCAT CCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCA TCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAAC CAATCCATCCCTCCATCCATCCATCCATCCATCCAACCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAAC CATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAACC ATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCAA CCAATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAACCAAT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATC CATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCAT CCATCCATCCATCCATCCATCCATCCAACCAATCC	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(756): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATTGGTTGGATGGATGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGG ATGGATGGATGGAGGGATGGATTGGTTGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTG GTTGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGAT GGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGG ATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19088.hp2 NA19000.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0268 a0001c0001t0007g0266 a0001c0001t0002g0268 a0001c0001t0007g0266	2	376	0.0053	763	c.666 others(780): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCAT CCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATC CATCCATCCATCCATCCATCCATCCATCCATCCAACCAACCAACCAATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCA TCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAATCCATCCCTCCATCCATCCATCCATCCATCCAACC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAA CCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATC CATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCC ATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCAT CCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCCATCCAACC AATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(756): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATTGGTTGGATGGATGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGG ATGGATGGAGGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTG GTTGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGAT GGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGG ATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0272 a0001c0001t0007g0272	1	376	0.0027	763	c.666 others(780): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCAT CCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATC CATCCATCCATCCATCCATCCATCCATCCATCCAACCAACCAACCAATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCA TCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCAATCCATCCCTCCATCCATCCATCCATCCATCC AACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAA CCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATC CATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCC ATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCAT CCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCCATCCAACC AATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(756): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGG ATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGG ATGGATGGATGGATGGAGGGATGGATTGGTTGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGG ATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0181 a0001c0001t0006g0181	1	376	0.0027	763	c.666 others(780): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCAT CCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATC CATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAACCAACCA ATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCA TCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCAACCAATCCATCCCTCCATCCATCCATCCATCCATCCAACCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATC CATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATCCATCC ATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAA CCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATC CAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA ACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAT CCATCCATCCATCCATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFT140_chr16_1505427_1617072	1599475	G G	GGTCAGCC others(756): Show GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAG CCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGTCCGGCCAGCCG CCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGGGGCCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCGGG CCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCACCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCCGGG AGGGAGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0302 a0001c0001t0002g0302	1	334	0.0030	763	c.369 others(780): Show c.369+2894_369+2895insACCCCCACCTCCCTCCCGGGCGGGGGGC CGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGC CGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGACG GAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGG GGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IFT140_chr16_1505427_1617072	1599475	G G	GGTCAGCC others(756): Show GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAG CCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGTCCGGCCAGCCG CCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GGGGGCCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCACCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCCGGG AGGGAGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA20752.hp1 HG01074.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0304 a0001c0001t0002g0309 a0001c0001t0002g0304 a0001c0001t0002g0309	2	334	0.0060	763	c.369 others(780): Show c.369+2894_369+2895insACCCCCACCTCCCTCCCGGGCGGGGGGC CGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGC CGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGACG GAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGG GGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
INS_chr11_2154779_2166209	2161873	C C	CCACACCC others(756): Show CCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCC CTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCC AGACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCTCACACCCC TGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCTCACACCCCTGTCCCC AGGACCCTGTCCCCGGACCCCTGTCCCCACACCCCTGTCCCCGGGACCCC TGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCAGACCCCTATCCCCA CACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCT GTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCAG ACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTAT CCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCGGGA CCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTC CCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCAGAC CCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCC CCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCC CTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCACACCCCTGTCCCC GGGACCCCTGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG02451.hp1 HG01256.hp2 HG01258.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	3	376	0.0080	763	c.-72 others(772): Show c.-724_-723insAGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAG GGGTGTGGGGATAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGG GGACAGGGGTCTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGG GTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGG ACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGG TGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGG ACAGGGGTCTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGT GTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGAC AGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTG TGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGATAGGGGTCTGGGGACA GGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGT GGGGACAGGGGTCCGGGGACAGGGTCCTGGGGACAGGGGTGTGAGGACAG GGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGAGGACAGGGGTCCC GGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGATAG GGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGG GGACAGGGGTGTGGGGACAGGGGTGTG	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		665		chr11	TogoVar
IQSEC3_chr12_61767_183455	163304	C C	CCCTCCCT others(756): Show CCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACC GGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCT CCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAG CCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCC TCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCC TCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCA CAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCC CTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGA ACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCT CCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCG GAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTC CCTCCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCT CCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCG GACCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0150 a0001c0007t0001g0150	1	282	0.0036	763	c.258 others(780): Show c.2584-159_2584-158insCCCTCCCTCCACAGAACCGGACCCCTCC CCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAG AACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCCTCCCCT CCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAAC CGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCC TCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGA GCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCC TCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCC TCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCA CAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCC CTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGA ACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCTCCT CCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAG CCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCT CCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCC CTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTC	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KIF25_chr6_167992671_168050091	167997395	A A	ATCTGCAG others(756): Show ATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAG AGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAG AGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAG ATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGA GATGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAG ATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGG TGGGGGCGGGGGAGTCTGCAGAGATGGGGGCCGGGGGAATCTGCAGAGAT GGGGGGCGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG03486.hp1 HG02818.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0187 a0001c0001t0001g0189	2	375	0.0053	763	c.-20 others(774): Show c.-2074_-2073insTCTGCAGAGATGGGGCGACGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATG GGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG CGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGG CGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGAC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTC GGGGGAATCTGCAGAGATGGCGACGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGG GGGAATCTGCAGAGGTGGGGGCGGGGGAGTCTGCAGAGATGGGGGCCGGG GGAATCTGCAGAGATGGGGGGCGGGGGAG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		275		chr6	TogoVar
LUC7L_chr16_183990_234449	187172	G G	GGAGGAAC others(756): Show GGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGAGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGG GGGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGG AACAGCGACACGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	350	0.0029	763	c.20 others(774): Show c.2025_*2026insTCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTC CCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCT GTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTG TCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGT GTCGCTGTTCCCTCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCTCCG TGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCC CCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCC CCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCC TCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTT CCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGT TCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCGTGTCGCT GTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGC TGTTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCCCCCGTGTC GCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGT CGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTG TCGCTGTTCCCTCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		1817		chr16	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(756): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCCCCTTCC CCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTC CTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCC CCTCCCCTCCACCCTCCCCTCCCCTCCCTTCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCT CCCCTCCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCT CCCCTCTTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCT CCCTTCCCCTCCCCTCCCCTTCCCTCCCCCCTCCCCTTCCCCCTCCCTCC CCCTCCCTTCCCCTCCCCACTTCCCCTCCCCTTCCCCCTCCCCTCCCATT CATCCCCCTTCCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCT TCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCC CCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTC CCTCCCCCCCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCC CTCTCCTCTCCCCTCCCCACCCCCTCCCCTTCCCTCCCCACCTCCCCCCT CCCCTCCCTTCCCTCTCCTGTCCCCCACTCCTCCTCTCCCCTCCCCCTCC CCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0016 a0002c0020t0016	a0002c0020t0016g0007 a0002c0020t0016g0007	1	278	0.0036	763	c.115 others(780): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCCCCT TCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCC CTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCT CCCCCTCCCCTCCACCCTCCCCTCCCCTCCCTTCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCC CCTCCCCTCCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCC CCTCCCCTCTTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTC CCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCCCCTCCCCTTCCCCCTCCC TCCCCCTCCCTTCCCCTCCCCACTTCCCCTCCCCTTCCCCCTCCCCTCCC ATTCATCCCCCTTCCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCC TCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCT TCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCC CTCCCTCCCCCCCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCT CCCCTCTCCTCTCCCCTCCCCACCCCCTCCCCTTCCCTCCCCACCTCCCC CCTCCCCTCCCTTCCCTCTCCTGTCCCCCACTCCTCCTCTCCCCTCCCCC TCCCCTCCCCTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(756): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCCCCTTCC CCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTC CTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCC CTCCCCTCCACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCC TCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCT CCCCTCCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCT CCCCTCTTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCT CCCTTCCCCTCCCCTCCCCTTCCCTCCCCCCTCCCCTTCCCCCTCCCCTC CCCCTCCCTTCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCA TTCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTC TTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTC CCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCT CCCTCCCCCCCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCC CCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCC TCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCC CCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0010 a0002c0020t0010	a0002c0020t0010g0162 a0002c0020t0010g0162	1	278	0.0036	763	c.115 others(780): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCCCCT TCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCC CTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCT CCCCTCCCCTCCACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCC CCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCC CCTCCCCTCCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCC CCTCCCCTCTTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTC CCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCCCCTCCCCTTCCCCCTCCC CTCCCCCTCCCTTCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTC CCATTCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCC CTCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCC TTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCC CCTCCCTCCCCCCCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCC TCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCC CCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCC TCCCCTCCCCTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(756): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGC GGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGGAGGGGGAAAAGGGG CAGGGGGGGAGGGGGGAAAAGGGGCGGGGAAGGGGGGGAAAAGGGGCGGG GGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGGAAGGGGAAAGGGGTGAG GGGAAGGGGGGAAGAGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGG GAGGGGAGGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAGGGGAGG GGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGG GGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGAGGGAGGGGGA GGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGA GGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAG GGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGG AGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGG GGAGGGAAGGGAGGGAGAGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGG GAGGGAGGGGAGGGGAGTGGAGGGGAGGGGGAGGGGGAGGGAGGGGAGGG GAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGG GGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0247 a0001c0001t0006g0247	1	272	0.0037	763	c.250 others(778): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCCCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCC CTTCCCTCCCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTC CCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCC CCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCCTCCCC TCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTCTCTT CCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCTCTCTT CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CTCCCCCTCCCTCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATC CTCCCCTCACCCCTTTCCCTCTTCCCCCCTTCCCCTCACCCCTTTCCCCT TCCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCC CCCTTCCCCGCCCCTTTTCCCCCCTCCCCCCCTGCCCCTTTTCCCCCTCC CCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCC CTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(756): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTGCTCTC CCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCC CTCCCCTCTCCCCTCCCCTGTTCCCTCCCCTCCTCTCTTCCCTCCCCTCC TCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCTGCCCTCCCCCTCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCTCCTCCTCTCCCCTCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCC CCTCTCCCCTCCCCTGCCCCTCTCCCCTCCCCTCCCCTCCCCCTCTCCCC TCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCT CCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCC TCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0039 a0002c0015t0001g0039	1	140	0.0071	763	c.114 others(782): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTGTTCCCTCCC CTCCTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCC CGTCTCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTG CCCTCCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCTCCTCCCC TCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTGCCCCTCTCCCCTC CCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCT CCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTC CCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TTTTCCCT others(756): Show TTTTCCCTCCCCTCTGCTCTCCCCTCCCCTCTGCTCTCCCCTCCCCTCCC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCCTCCCCTCTTC CCTCCCCTCCTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTC CCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCTCCCCTCCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCTCCCCTCCTCC CCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCC TCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCT CCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCC TCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0047	1	140	0.0071	763	c.114 others(782): Show c.1142-1812_1142-1811insTTTCCCTCCCCTCTGCTCTCCCCTCC CCTCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCC TCCCCTCTCCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCC TCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCC TCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCTCCTCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCC TCCTCCCCTCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTC TCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCC CTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCC TCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCC	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43			chr8	TogoVar
PAK2_chr3_196734857_196837647	196811344	C C	CCCTCCCT others(756): Show CCCTCCCTTCCCTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTCCCTTCC CTCCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCT CCCTCCCTTCCCTCCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCC CTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTC CCTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCC CTCCCTCCCTTCCCTCCCTTCCTTCCTTCCTTCCCTTCCTTCCTTCCTTC CTTCCCTCCCTTCCTTCCTTCCCTCCCTTGCTTCCCTTCCTTCCCTTCCC TCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCCTCCCTCC CTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCCTTCCCTCCCTTCCC TCCCTCCCTTCCCTCCCTTCCTTCCTTCCTTCCCTTCCTTCCTTCCTTCC TTCCCTCCCTTCCTTCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTC CCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTC CTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCCTTCCCTTCCTTCC CTTCCCTCCCTTCCCTTCCTTCCCTCCCTTCCCTTCCTTCCCTTCCTTCC TTCCTTCCCTTCCTTCCCTTCCTTCCTTCCCTTCCTTCCCTCCCTTCCCT TCCTTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0165 a0001c0001t0007g0165	1	178	0.0056	763	c.773 others(778): Show c.773+694_773+695insCCCTTCCCTCCCTCCCTTCCCTCCCTCCCT TCCCTCCCTCCCTTCCCTCCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCC CTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCTTCCTTCCCT CCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTC CTTCCTTCCTTCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCT CCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCTTCCTTCC CTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCTTCCCTCCCTTGCTTC CCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCC TTCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTC CCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCTTCCTTCCC TTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCTTCCCTCCCTCCCTTCC CTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCT TTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTT CCCTTCCCTTCCTTCCCTTCCCTCCCTTCCCTTCCTTCCCTCCCTTCCCT TCCTTCCCTTCCTTCCTTCCTTCCCTTCCTTCCCTTCCTTCCTTCCCTTC CTTCCCTCCCTTCCCTTCCTTCCCTTCCTTCCT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(756): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATAATATGTAATACACAATATATATTATATAAT AATATGTAATACACAATATATTATATAATATGTAATACACAATATATTAT ATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAA TATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTA ATACACAATATATTATATAATAATATGTAATACACAATATATTATATAAT AATATGTAATACACAATATATTATATAATAATATGTAATACACAATATAT TATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACATTATACATTATTATATAAGTATATGTAATACATTATACATTA TTATATAAGTATATGTAATATATATTATACATTATTATATAAGTATATGT AATATATATTATACATTATTATATAAGCATATAATATATAATACATAATA CATTATATATAAGCATATAACAATACATAATACATTATATATAAGCATAT AACAATACATAGTA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0193 a0001c0001t0031g0193	1	220	0.0046	763	c.24+ others(780): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATAATATGTAAT ACACAATATATATTATATAATAATATGTAATACACAATATATTATATAAT ATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTAT ATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAA TATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTA ATACACAATATATTATATAATAATATGTAATACACAATATATTATATAAT AATATGTAATACACAATATATTATATAATAATATGTAATACACAATATAT TATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACA CAATATATTATATAATAATATGTAATACATTATACATTATTATATAAGTA TATGTAATACATTATACATTATTATATAAGTATATGTAATATATATTATA CATTATTATATAAGTATATGTAATATATATTATACATTATTATATAAGCA TATAATATATAATACATAATACATTATATATAAGCATATAACAATACATA ATACATTATATATAAGCATATAACAATACATAGTA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
ROBO2_chr3_77035099_77654964	77323064	T T	TATATTAT others(756): Show TATATTATGGATAATATAATATAATATATTATATTATCGATAATATAATA TCTTATATTATGGATAATATAATATATTATATTATGGATAATATATTATA TTATGGATAATATAATATATTATATTATGGATAATATATTATATTATGGA TAATATATATTATATTATGGATAATATAATATATTATATTATGGATAATA TAATATATTATATTATGGATAATATAATATATTATATTATGGATAATATA TTATATTATGGATAATATAATATATTATATTATGGATAATATATTATATT ATGGATAATATAATATATTATATTATGGATAATATATTATATTATGGATA ATATAATATATTATATTATGGATAATATATTATATTATGGATAATATATT ATGGATAATATATTATATTATGGATAATATATTATGGATAATATATTATA TTATGGATAATATATTATATTATGGATAATATATTATATTATGGATAATA TAATATATTATATTATGGATAATATAATATATTATATTATGGATAATATA ATATATTATATTATGGATAATATAATATATTATATTATGGATAATATAAT ATATTATATTATGGATAATATAATATATTATATTATGGATAATATAATAT ATTATATTATGGATAATATAATATATTATATTATGGATAATATAATATAT TATATTATATTATGGATAATATAATATAATATATTATATTATGGATAATA TAATATAATATATC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0045 a0001c0001t0012g0045	1	160	0.0063	763	c.389 others(784): Show c.389-154328_389-154327insATATATTATATTATCGATAATATA ATATCTTATATTATGGATAATATAATATATTATATTATGGATAATATATT ATATTATGGATAATATAATATATTATATTATGGATAATATATTATATTAT GGATAATATATATTATATTATGGATAATATAATATATTATATTATGGATA ATATAATATATTATATTATGGATAATATAATATATTATATTATGGATAAT ATATTATATTATGGATAATATAATATATTATATTATGGATAATATATTAT ATTATGGATAATATAATATATTATATTATGGATAATATATTATATTATGG ATAATATAATATATTATATTATGGATAATATATTATATTATGGATAATAT ATTATGGATAATATATTATATTATGGATAATATATTATGGATAATATATT ATATTATGGATAATATATTATATTATGGATAATATATTATATTATGGATA ATATAATATATTATATTATGGATAATATAATATATTATATTATGGATAAT ATAATATATTATATTATGGATAATATAATATATTATATTATGGATAATAT AATATATTATATTATGGATAATATAATATATTATATTATGGATAATATAA TATATTATATTATGGATAATATAATATATTATATTATGGATAATATAATA TATTATATTATATTATGGATAATATAATATAATATATTATATTATGGATA ATATAATATAATATATCATATTATGGATAATATAATATA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RYR2_chr1_237037184_237838988	237631975	G G	GATGACTG others(756): Show GATGACTGTTTTTAAAGAAGACTTTTTGAAAAAAACACACAAACCTTAGG GAGTTGAACGTACTACTAGTTTTTTTTTCCTTGATTTTGATAAAAATTTC CTGTCTTATACTGTGTAATTTTTGGCCTCCTAAATTATTCTCTTTTAGGG GATATTTAGAAACTGAAGTATCTCATTTAGGGGATATTTAGAAACTTAGA AACATAAAAATTACTCTATGTATTAATTTATTTTAAAATTTTGAATTATA ATTCAGTTCTCATCACGTTACCAGTCCATGGCACAAGCATGTTCTTCAGA CTCCACCATCCTCCATGACACAGACATTGGTTGGTTTCACTTAATTTCCA ATCCAGATTGAGATTTGATGATAATACTCTTGGATGTATTTGTTGTAGAA TTCTAAAGTGAATTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CAGTCTCTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCA ACCTCCGCCTCCCAGGTTCACTACATTCTCCTTCCTCAGCCTGCCGAGTG GCTGGGACTACAGGCGCCCACCACCATTCCCTGCTAATTTTTTTGGTATT TTTAGTAGAAATGGGGTTTCGCCATGTTAGCCAGGATGGTCTTGATCTCC TGACCTCATGATCTTCCTGCCTTGGCCTCCCGAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCAGCCCAGATTGTAGATTCTTAATGAGAATTTCT TAAATCCTCTTAGA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0008 a0002c0009t0008	a0002c0009t0008g0040 a0002c0009t0008g0040	1	100	0.0100	763	c.655 others(780): Show c.6555+654_6555+655insATTAATTTATTTTAAAATTTTGAATTAT AATTCAGTTCTCATCACGTTACCAGTCCATGGCACAAGCATGTTCTTCAG ACTCCACCATCCTCCATGACACAGACATTGGTTGGTTTCACTTAATTTCC AATCCAGATTGAGATTTGATGATAATACTCTTGGATGTATTTGTTGTAGA ATTCTAAAGTGAATTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCAGTCTCTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGC AACCTCCGCCTCCCAGGTTCACTACATTCTCCTTCCTCAGCCTGCCGAGT GGCTGGGACTACAGGCGCCCACCACCATTCCCTGCTAATTTTTTTGGTAT TTTTAGTAGAAATGGGGTTTCGCCATGTTAGCCAGGATGGTCTTGATCTC CTGACCTCATGATCTTCCTGCCTTGGCCTCCCGAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCAGCCCAGATTGTAGATTCTTAATGAGAATTTC TTAAATCCTCTTAGAATGACTGTTTTTAAAGAAGACTTTTTGAAAAAAAC ACACAAACCTTAGGGAGTTGAACGTACTACTAGTTTTTTTTTCCTTGATT TTGATAAAAATTTCCTGTCTTATACTGTGTAATTTTTGGCCTCCTAAATT ATTCTCTTTTAGGGGATATTTAGAAACTGAAGTATCTCATTTAGGGGATA TTTAGAAACTTAGAAACATAAAAATTACTCTATGT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	42/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCARA5_chr8_27864883_27997673	27918978	A A	AGGAGGAG others(756): Show AGGAGGAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGAAGGAGGAG GAGGAAGAGAAAAGGAGGAGGAGGGGAAGGAGGAGGAAAAGGAGGAGGAG GGGAAGGAGGAGGAGAAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGA GAAGGAGGAGGAAGAGAAAAGGAGGAGGAGAGGGGAAGGAGGAGGAAAAG GAGAAGGAGGAACAGGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGAA GGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGGAGGGGAAGGAGAAGGAGG AGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGGAGAAGGCAGAGGAGGAGGAGGA GAAGAAAGAAGAGGAGGAGAAGGAAGAAGAGGAGGAGAAGGAAGAAAGGG CAGAAGAGAAGGAGGAAGAGGAGAAAGAGGAGGAGGAGGGGAAAGAAGAG GATAAGGAAGAAAGGGAAGAGGAGAGGGAAGAAGAGGAGGAGGAGGGGAA GAAAGAGGAGGAGGAGGAGAAAAAGAGGAGGAGGAGGGGAAGGAAAAGAA GGAGGAGGAAAAGCAGGAGGAGAAGGAGGAGGAAGAGAAAAGGAGGAGGA GGGGAAGGAGGAGAAGGAGGAGGAATGGGAGGAGGAGGAGAGAATAGAGG AGGAGGGAATAGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03195.hp1 HG02145.hp1 HG03195.hp1	a0001 a0003 a0001 a0003	a0001c0009 a0003c0011 a0001c0009 a0003c0011	a0001c0009t0011 a0003c0011t0034 a0001c0009t0011 a0003c0011t0034	a0001c0009t0011g0122 a0003c0011t0034g0140 a0001c0009t0011g0122 a0003c0011t0034g0140	2	314	0.0064	763	c.916 others(780): Show c.916+2592_916+2593insCTTCTCTCCTCCTCCTCCCTTCTCTCCT CCTCCTCCCTTCTCTCCTCCTCCTCTATTCCCTCCTCCTCTATTCTCTCC TCCTCCTCCCATTCCTCCTCCTTCTCCTCCTTCCCCTCCTCCTCCTTTTC TCTTCCTCCTCCTTCTCCTCCTGCTTTTCCTCCTCCTTCTTTTCCTTCCC CTCCTCCTCCTCTTTTTCTCCTCCTCCTCCTCTTTCTTCCCCTCCTCCTC CTCTTCTTCCCTCTCCTCTTCCCTTTCTTCCTTATCCTCTTCTTTCCCCT CCTCCTCCTCTTTCTCCTCTTCCTCCTTCTCTTCTGCCCTTTCTTCCTTC TCCTCCTCTTCTTCCTTCTCCTCCTCTTCTTTCTTCTCCTCCTCCTCCTC TGCCTTCTCCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCT CCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTTCTCCTTC CCCTCCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTTCTTCTCCTTCCC CTCCTCCTCCTTCTCCTCCTCCTGTTCCTCCTTCTCCTTTTCCTCCTCCT TCCCCTCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCCTCCTCCTTTTC CTCCTCTTTCTCCCCTTTCTTCTCCTCCTCCTTCCCCTCCTCCTCCTTTT CCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCTCCTTCTTTT CCTCCTCTTTCTCCTCTTCCTCCTCTTCCTCCTCC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(756): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATATTCCATATATATATATATTCCATATATATATATATATTCCATATA TATATATATTCCATATATATATATATATTCCATATATATATATTCCATAT ATATATATATTCCATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATTCCATATATA TATATTCCATATATATATATTCCATATATATATATTCCATATATATATAT TCCATATATATATATATTCCATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATTCCATATATATATATTCCA TATATATATATTCCATATATATATATTCCATATATATATATTCCATATAT ATATATTCCATATATATATATTCCATATATATATATTCCATATATATATA TTCCATATATATATATTCCATATATATATATTCCATATATATATATTCCA TATATATATATTCC	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	324	0.0031	763	c.115 others(780): Show c.115-2573_115-2572insGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATATGGAATATA TATATATGGAATATATATATATGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATGGAATATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATGGAATATATATATATATGGAATATATA TATATGGAATATATATATATATATGGAATATATATATATATGGAATATAT ATATATATATGGAATATATATATATATGGAATATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SFI1_chr22_31491536_31623588	31495982	T T	TGAGCCTG others(756): Show TGAGCCTGGCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTT TTTTTTAGGTTTTTTTTTTTTTTTTTTTTTTAATTTATTTTTTTTATTTT ATTTTTATTTTTTTATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGAT TTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAG TGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGC AGCGTTTGTGTCCCTGGGTACTTAAGATTAGGGAGTGGTGATGACTCTCA ACGAGCATGCTGCCCTCAAGCATCTGTTCATCAAAGCACATCTTGCACCG CCCTTAATCCATCTAACCCTGAGTGGACACAGCACATGTCTCAGAGAGCA CAGGGTTGGGGATAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAAT TTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTATCC ACACAGACCCAGCAACCATCCGATTTCTCAATTTTTTCCCCACCCTTCCC GCCTTTCTATTCCACAAAACCGCCATTGTCATCATGGCCCATCCCCAATG AGCCGCTGGGCACACCTCCCAGACGGGGTCGTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCCGGCAGAAGTGCCCCTCACCTCCCAGA TGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCTCCGCCCTCCCGGAC GGGGCGGCTGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG01516.hp2 HG01517.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0006 a0010c0010t0001g0007 a0010c0010t0001g0006 a0010c0010t0001g0007	2	322	0.0062	763	c.-68 others(772): Show c.-686_-685insGAGCCTGGCATTTCTTTTTTTTTTTTTTTTTTTTTT TTTTTTATTTTTTTTTTTTAGGTTTTTTTTTTTTTTTTTTTTTTAATTTA TTTTTTTTATTTTATTTTTATTTTTTTATTGATCATTCTTGGGTGTTTCT CGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCA GCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCC TGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTAAGATTAGGGAGTG GTGATGACTCTCAACGAGCATGCTGCCCTCAAGCATCTGTTCATCAAAGC ACATCTTGCACCGCCCTTAATCCATCTAACCCTGAGTGGACACAGCACAT GTCTCAGAGAGCACAGGGTTGGGGATAAGGTCACAGATCAACAGGATCCC AAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATG TCTACTTCTATCCACACAGACCCAGCAACCATCCGATTTCTCAATTTTTT CCCCACCCTTCCCGCCTTTCTATTCCACAAAACCGCCATTGTCATCATGG CCCATCCCCAATGAGCCGCTGGGCACACCTCCCAGACGGGGTCGTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCCGGCAGAAGTGCCC CTCACCTCCCAGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCTC CGCCCTCCCGGACGGGGCGGCTGGCCA	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding		553		chr22	TogoVar
SKI_chr1_2223319_2315213	2281022	C C	CGATCTTC others(756): Show CGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTT CATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGG CGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGC GGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGA GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACA GGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTG GCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAG ATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTC AGAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGT GGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCG GAGATCTTCAGAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGAT CTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGA GAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGA CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGA GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGGACGCCCGAGAAGA CAGGTGGTGGCGGA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0140 a0001c0001t0008g0140	1	330	0.0030	763	c.970 others(782): Show c.970-21930_970-21929insGGACAGGCGGTGGCGGAGATCTTCAT AGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGG TGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCGGA GATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAA GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGT GGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCG GAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGA GAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGTGGT GGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAG ATCTTCAGAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTT CAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAG AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAA GACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGGACGCCCGAGAAGACAG GTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC22A3_chr6_160343378_160457577	160456788	G G	GTGGTAGT others(756): Show GTGGTAGTAGTGGTAGTACTGATGATGGTGGTGATGACGGTGATGATGTT GAGGGTGATGTAATAGTGACGGTGGTGGAATGGTGGTGATGGTGATTGTG GTAGTAGTGGTAGTGGTAGTAATGACGGTGGTGGCAATGGTGACGGTGGT GATGATGTTGAGAGTGATGATAATGGTGATGGTGGTGGAATGGTGGTGAT GGTGATGGTGGTGGTAGTGGTAGTAATGATGATGATGGCGGTGATGATGG CGGTGGTGATGGTGATGGTGGTGATGATGTTGAGAATGATGATAATGGTG ATGGTGGTGGAATGGTGGTGATGGTGATGGCGGTGGTAGTGGTAGTGATG ATGATGGCGGTGATGATGGCGGTGGTGATGGTGATGGTGGTGGTGATGTT GAGAGTGATGATAATGGTGATGGTGGTGGAATGGTGGTGATGGTGATGGC GGTGGTAGTGGTAGTGATGATGATGGCGGTGATGATGGCAGTGGTGATGG TGATGGTGGTGATGATGTTGAGAGTGATGATAATGGTGATGGTGGTGATG GTGATGATGGTGGTAGTGGTAGTAATGATGATGGTGGTGATGATGGCGGT GGTGATGGTGGTGGTGATGTTGAGAGTGATGGTAATGGTGATGGTGGTGC AATGGTGTGATGGTGATGGTGGTAGTGGTAGTAGTAATGATGGTGGTGCT GATGGTGATGGTGGTGGTGATGTTGAGAGTGATGATAATGGTGATGGTGG TGGAATGGTGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp1 NA19077.hp2 NA19012.hp1 NA19077.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0015 a0001c0003t0001g0133 a0001c0003t0001g0015 a0001c0003t0001g0133	2	318	0.0063	763	c.57 others(774): Show c.5732_*5733insTGGTAGTAGTGGTAGTACTGATGATGGTGGTGAT GACGGTGATGATGTTGAGGGTGATGTAATAGTGACGGTGGTGGAATGGTG GTGATGGTGATTGTGGTAGTAGTGGTAGTGGTAGTAATGACGGTGGTGGC AATGGTGACGGTGGTGATGATGTTGAGAGTGATGATAATGGTGATGGTGG TGGAATGGTGGTGATGGTGATGGTGGTGGTAGTGGTAGTAATGATGATGA TGGCGGTGATGATGGCGGTGGTGATGGTGATGGTGGTGATGATGTTGAGA ATGATGATAATGGTGATGGTGGTGGAATGGTGGTGATGGTGATGGCGGTG GTAGTGGTAGTGATGATGATGGCGGTGATGATGGCGGTGGTGATGGTGAT GGTGGTGGTGATGTTGAGAGTGATGATAATGGTGATGGTGGTGGAATGGT GGTGATGGTGATGGCGGTGGTAGTGGTAGTGATGATGATGGCGGTGATGA TGGCAGTGGTGATGGTGATGGTGGTGATGATGTTGAGAGTGATGATAATG GTGATGGTGGTGATGGTGATGATGGTGGTAGTGGTAGTAATGATGATGGT GGTGATGATGGCGGTGGTGATGGTGGTGGTGATGTTGAGAGTGATGGTAA TGGTGATGGTGGTGCAATGGTGTGATGGTGATGGTGGTAGTGGTAGTAGT AATGATGGTGGTGCTGATGGTGATGGTGGTGGTGATGTTGAGAGTGATGA TAATGGTGATGGTGGTGGAATGGTGGTGA	SLC22A3	ENSG00000146477.6	transcript	ENST00000275300.3	protein_coding		4212		chr6	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016172	C C	CTCTATCT others(756): Show CTCTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCT GTGTCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCTCCCCTCCTGTATCTTCCCCTCCTCCTCCTCCTCTATCTC CTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTGTCTCCT CCCCCTCCTCCTCCTGTATCTCCTCCCTCTCCTCCTCCTGTATCTCCTCC CTCCCCTCCTGTATCTTCCCCTCCTCCTCCTCCTCTATCTCCTCCCCCTC CTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTCCT CCTCCTGTATCTCCTCCCTCTCCTCCTCCTGTATCTCCTCCCTCCCCTCC TGTATCTTCCCCTCCTCCTCCTCCTCTATCTCCTCCCCCTCCTCCTCCTG TATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTA TCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATC TCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTC CTCCCCCTCATCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCT CCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCC CCCTCCTCCTCCTGTATCTCCTCCCCCTCATCCTCCTGTATCTCCTCCCC CTCCTCCTCCTGTA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0068	1	202	0.0050	763	c.262 others(782): Show c.262-28031_262-28030insCTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCTCCCCTCCTGTATCTTCC CCTCCTCCTCCTCCTCTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCC CCCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCT CTCCTCCTCCTGTATCTCCTCCCTCCCCTCCTGTATCTTCCCCTCCTCCT CCTCCTCTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCC TCCTGTGTCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCTCTCCTCCTC CTGTATCTCCTCCCTCCCCTCCTGTATCTTCCCCTCCTCCTCCTCCTCTA TCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATC TCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTC CTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCT CCCCCTCCTCCTCCTGTATCTCCTCCCCCTCATCCTCCTGTATCTCCTCC CCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCC CTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCT CATCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(756): Show CTATTATATATATAATATACCTATTATATATAATATACCTATTATATATA AAATATACCTATTATATATAATATACCTATTATATACATTATATATAATA TACCTATTATATGCATTATATATAATATACCTATTATATGCATTATATAT AATATACCTATTATATGCATTATATAATATATTATATATAATATGCATAT TATATGTATTATATATTATATATTATATATATAATATACATATTATATGT ATTATATATTATATATTATATATATAATATACATATTATATGTATTATAT ATTATATATAATATACATATTATATATTATATATTATATACATATTATAT ATTATATACATATTATATATTATATACATATTATATATTATATATTATAT ACATATTATACATTATATATATCTAAAATATATAATACACATTATATATT ATATAATACACATTATATATTATATATAATACACATTATATATTATATAT AATACACATTATATATTATATATAATACACATTATATATTATATAATACA CATTATATATTATATATAATACACATTATATATTATATATAATACACATT ATATATTATATATAATACACATTATATATTATATATAATACACATTATAT ATTATATATAATATACATTATATATTATATAATACACATTATATATTATA TATAATACACATTATATATATAATACACATTATATATTATATATAATACA TAATACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0302 a0001c0002t0002g0302	1	360	0.0028	763	c.62 others(774): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTATT ATATAATATATAATGTATATTATATATAATATATAATGTGTATTATATAT AATATATAATGTGTATTATATATAATATATAATGTGTATTATATATAATA TATAATGTGTATTATATATAATATATAATGTGTATTATATAATATATAAT GTGTATTATATATAATATATAATGTGTATTATATATAATATATAATGTGT ATTATATATAATATATAATGTGTATTATATAATATATAATGTGTATTATA TATTTTAGATATATATAATGTATAATATGTATATAATATATAATATATAA TATGTATATAATATATAATATGTATATAATATATAATATGTATATAATAT ATAATATATAATATGTATATTATATATAATATATAATACATATAATATGT ATATTATATATATAATATATAATATATAATACATATAATATGTATATTAT ATATATAATATATAATATATAATACATATAATATGCATATTATATATAAT ATATTATATAATGCATATAATAGGTATATTATATATAATGCATATAATAG GTATATTATATATAATGCATATAATAGGTATATTATATATAATGTATATA ATAGGTATATTATATATAATAGGTATATTTTATATATAATAGGTATATTA TATATAATAGGTATATTATATATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
TH_chr11_2158929_2176815	2161873	C C	CCACACCC others(756): Show CCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCC CTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCC AGACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCTCACACCCC TGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCTCACACCCCTGTCCCC AGGACCCTGTCCCCGGACCCCTGTCCCCACACCCCTGTCCCCGGGACCCC TGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCAGACCCCTATCCCCA CACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCT GTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCAG ACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTAT CCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCGGGA CCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTC CCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCAGAC CCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCC CCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCC CTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCACACCCCTGTCCCC GGGACCCCTGTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	2	388	0.0052	763	c.23 others(774): Show c.2359_*2360insAGGACAGGGGTCCCGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGT GGGGACAGGGGTCTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACAG GGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGG GGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGG GGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGG GGACAGGGGTCTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGG GTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGG ACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGG TGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGATAGGGGTCTGGGGA CAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGT GTGGGGACAGGGGTCCGGGGACAGGGTCCTGGGGACAGGGGTGTGAGGAC AGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGAGGACAGGGGTC CCGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGAT AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCT GGGGACAGGGGTGTGGGGACAGGGGTGTG	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2055		chr11	TogoVar
TWIST2_chr2_238843085_238915534	238871147	A A	ACACACAC others(756): Show ACACACACCACACACCCCACACACACCACACCCCATACACACCACACCCC ACACACACCACACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCCACACACACCACACCCTACACACACCACACACCC CACACACACATCACACACCACACACACCACACACACCCCACACACACCAC ACACACACATCACATACCACACACCCGACACACGCCACACACACACCACA CACCCCACGCACACATCACATACCACACACAAACCACACACCCTACACAC ACCACACACCCCACACACACCACACACACACACCACACACACATCACATA CCACACACAAACCACACACCCAACACACACATCACACACCACACACCCCA CACACACATCACATACCACACACAAACCACACACCCCACACACACATCAC ATACCACACACAAACCACACACCCCCACACACCCCACACACCCCACACAC ACCACACACCCCACACACACACCACACACCCCACACACACATCACATACC ACACACAAACCACACACCCCACACACCCCACACACCACACACACACCACA CACACATCACATACCACACACAAACCACACACCCTACACACACCACACAC CCCACACACACCACACACCCGACACACGCCACACACACACCACACACCCC ACGCACACATCACATACCACACACAAACCACACACCCTACACACCCCACA CACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	338	0.0030	763	c.35 others(782): Show c.35+22439_*35+22440insCACACCCCATACACACCACACCCCAC ACACACCACACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACCCCCACACACACCACACCCTACACACACCACACACCCCA CACACACATCACACACCACACACACCACACACACCCCACACACACCACAC ACACACATCACATACCACACACCCGACACACGCCACACACACACCACACA CCCCACGCACACATCACATACCACACACAAACCACACACCCTACACACAC CACACACCCCACACACACCACACACACACACCACACACACATCACATACC ACACACAAACCACACACCCAACACACACATCACACACCACACACCCCACA CACACATCACATACCACACACAAACCACACACCCCACACACACATCACAT ACCACACACAAACCACACACCCCCACACACCCCACACACCCCACACACAC CACACACCCCACACACACACCACACACCCCACACACACATCACATACCAC ACACAAACCACACACCCCACACACCCCACACACCACACACACACCACACA CACATCACATACCACACACAAACCACACACCCTACACACACCACACACCC CACACACACCACACACCCGACACACGCCACACACACACCACACACCCCAC GCACACATCACATACCACACACAAACCACACACCCTACACACCCCACACA CCCCACACACACCACACACCACACACCCCACACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
WDR25_chr14_100371485_100535303	100526932	A A	ATCACCAC others(756): Show ATCACCACCACCACCACCATTATCACCAGGACCAGCACCATCAGCATCAC TATCTCTATACCCACCACCACCACCACTGTCATCATTGTCACTACTACCA CTCCTGTCATCACCACCACCACCACCACCATTATCACCAGGACCAGCACC ATCACCATCACTATCTCTATACCCACCACCACTACTACTGTCATCATTGT CACTACCACCACTCCTGTCATCACCACCACCACCACCATTATCACCAGGA CCAGCACCATCAGCATCACTACCACCACCAGTGTCATCACCGCCACCACC ACCAGTACCACCATCAGCATCACTATCTCTATACCCACCACCTCCACTGT CATCATTGTCACTACCACCACTACTGTCATCATCACCATTATCACCAGCA CCAGCACCATCAGCATCACTATCTCTATACCCACCACCACCACAGTCATC ATTGTCACTACTACCACTCCTGTCATCACCAGCACCACCGCCATTATCAC CAGCACCACCGCCATTATCACCAGCACCACTGCCATCAGCATCACCATCA CCATCTTTGTACTCATCACCATCATCGTCACCACCGCGCCACCACCATCA CTGCCACCACTATTATCACTAGCACTACCACCATCAGCATCAGCATCACC ATCTGTATACTCACCACCATTACCATCATCGTCATCACTGCCACCACCAT CACCACTGTCCTCTTTATCTCCAGCACCACCATCATCGTCACTGTCACCA TACCACTCTCATCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02615.hp1 HG02647.hp2 others(2): Show HG01891.hp2 HG02615.hp1 HG02647.hp2 HG03209.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0093 a0002c0002t0001g0165 a0002c0002t0001g0166 others(2): Show a0001c0001t0001g0093 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0169	5	228	0.0219	763	c.127 others(780): Show c.1272+902_1272+903insCACCACCATTATCACCAGGACCAGCACC ATCAGCATCACTATCTCTATACCCACCACCACCACCACTGTCATCATTGT CACTACTACCACTCCTGTCATCACCACCACCACCACCACCATTATCACCA GGACCAGCACCATCACCATCACTATCTCTATACCCACCACCACTACTACT GTCATCATTGTCACTACCACCACTCCTGTCATCACCACCACCACCACCAT TATCACCAGGACCAGCACCATCAGCATCACTACCACCACCAGTGTCATCA CCGCCACCACCACCAGTACCACCATCAGCATCACTATCTCTATACCCACC ACCTCCACTGTCATCATTGTCACTACCACCACTACTGTCATCATCACCAT TATCACCAGCACCAGCACCATCAGCATCACTATCTCTATACCCACCACCA CCACAGTCATCATTGTCACTACTACCACTCCTGTCATCACCAGCACCACC GCCATTATCACCAGCACCACCGCCATTATCACCAGCACCACTGCCATCAG CATCACCATCACCATCTTTGTACTCATCACCATCATCGTCACCACCGCGC CACCACCATCACTGCCACCACTATTATCACTAGCACTACCACCATCAGCA TCAGCATCACCATCTGTATACTCACCACCATTACCATCATCGTCATCACT GCCACCACCATCACCACTGTCCTCTTTATCTCCAGCACCACCATCATCGT CACTGTCACCATACCACTCTCATCTTCACCACCAC	WDR25	ENSG00000176473.14	transcript	ENST00000402312.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(756): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAAATA TATATTATAACTATATTATAATATAGTTATAATATATAAATATATATTAT AACTATATTAAATATATAAATTATATAATATATATTATATATTGTATATT ATATAATTTATATAATATATTATATGTTATATAATATATATTATATATTG TATATATTATATTATATATTATATATTTTATATATCATATATAGTATGCT ATATAATATATATTTTTATATATTATATAGTATACTATATATTTTTATAT ATTATATAGTATACTATATAATATATATTTTTATATATTATATATAATAT ATATAATTATATATCATATATATTTATATAATATATGATATATAATATAT AATATATATTATGTATTATATAATTATATAAAATATATCATATATTATAT ATTATAAATAATATATATTATATTATATATTATAAATAATATATTATATA TTATATTATATATTATAAATAATATATTATATATTATATAATATATTATA AATAATATATTATATATTATATAATATATTATAAATAATATATTATATAT TATATAATATATTATAAATAATATATTATATATTATATTATATATTATAA ATAATATATTATATATTATATTATATATTATAAATAATATATTATATATT ATAAATAATATATTATATATAATATGTTATATATTATAAATAATATATTA TATATAATATGTTA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0281 a0001c0001t0002g0281	1	302	0.0033	763	c.-1- others(780): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAAATATATATTATAACTATATTATAATATAGTTATAATA TATAAATATATATTATAACTATATTAAATATATAAATTATATAATATATA TTATATATTGTATATTATATAATTTATATAATATATTATATGTTATATAA TATATATTATATATTGTATATATTATATTATATATTATATATTTTATATA TCATATATAGTATGCTATATAATATATATTTTTATATATTATATAGTATA CTATATATTTTTATATATTATATAGTATACTATATAATATATATTTTTAT ATATTATATATAATATATATAATTATATATCATATATATTTATATAATAT ATGATATATAATATATAATATATATTATGTATTATATAATTATATAAAAT ATATCATATATTATATATTATAAATAATATATATTATATTATATATTATA AATAATATATTATATATTATATTATATATTATAAATAATATATTATATAT TATATAATATATTATAAATAATATATTATATATTATATAATATATTATAA ATAATATATTATATATTATATAATATATTATAAATAATATATTATATATT ATATTATATATTATAAATAATATATTATATATTATATTATATATTATAAA TAATATATTATATATTATAAATAATATATTATATATAATATGTTATATAT TATAAATAATATATTATATATAATATGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ABCC1_chr16_15944616_16148053	15999866	C C	CCTTCCTT others(757): Show CCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0168 a0001c0004t0002g0168	1	249	0.0040	764	c.49- others(779): Show c.49-7950_49-7949insCTTCCTTCCTTCCTTCCTTCCTTCTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30			chr16	TogoVar
ATG7_chr3_11267397_11562665	11487606	C C	CCCTCCCG others(757): Show CCCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTC CCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC TGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGC CGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCC GACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGGGGGGCCG ACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCGGGCGGGGGGCCGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGG GCAGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGG GTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0274 a0001c0001t0045g0274	1	292	0.0034	764	c.207 others(785): Show c.2079+60692_2079+60693insGGCGGATGGCTGGGCGGGGGGCTG ACACCCCCACCTCCCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGA CGGGGCGGCAGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCGG GCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCA CCTCCCAGACGGGGCAGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTC CCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCT others(757): Show TGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCAC CCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCAC CCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCAC CCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC CGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	391	0.0026	764	c.36 others(775): Show c.3604_*3605insGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCC AGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCC TCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCC AGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCC AGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCGGCCC others(757): Show TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCT CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC CGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0033 a0001c0004t0001g0033	1	391	0.0026	764	c.36 others(775): Show c.3604_*3605insGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG GCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGG CCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835512	A A	AGGCCCCG others(757): Show AGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCC CCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC AGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0007 a0001c0004t0001g0007	1	391	0.0026	764	c.36 others(775): Show c.3635_*3636insGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCT CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3495		chr19	TogoVar
C4orf50_chr4_5954375_6023431	6004345	A A	ATGATGTG others(757): Show ATGATGTGGTGGTGATGGTGATGGTGACTGTGATGGTGATGGTGATGATG GTGATGGTGATGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATG TTGATGATGGTGGTGATGGTGATGATGTGATGGCGATGATAGTGATGATG GTGATGATGGTGATGGTGATGATGTGATGGTGATGATGTGATAGTGATGA TGGTGATGATGCTGATGGTGATGATGGTGATAGTGATGATGGTGATGGTG ATGATGGTGATGATGGTGATGATGGTGATGGTGATTATGGTGATGATGGG ATGGTGATGTTGATGATGGTGGTGATGGTGATGATGTGATGGCGATGATA GTGATGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGATAGTG ATGATGGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGAT GGTGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGG TGATGATGGTGATGATGGTGACGGTGATGATGTGATGGTGATGATGGTGA TGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGATGTTGATG ATGGTGATGATGGTGATGGTGATGATGGTGATGATGTGATGGTGATGATG TTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGTT GATGATGGTGATGATGGTGATGATGGTGATGGTGATGATAGTGATGATGG TGGTGATGGTGATGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp2 HG03486.hp2 HG02572.hp1 HG02622.hp2 HG03486.hp2	a0009 a0064 a0085 a0009 a0064 a0085	a0009c0010 a0064c0060 a0085c0099 a0009c0010 a0064c0060 a0085c0099	a0009c0010t0001 a0064c0060t0001 a0085c0099t0001 a0009c0010t0001 a0064c0060t0001 a0085c0099t0001	a0009c0010t0001g0327 a0064c0060t0001g0064 a0085c0099t0001g0033 a0009c0010t0001g0327 a0064c0060t0001g0064 a0085c0099t0001g0033	3	346	0.0087	764	c.963 others(781): Show c.963+3650_963+3651insCCATCACCATCACCACCATCATCACTAT CATCACCATCACCATCATCACCATCATCACCATCATCAACATCATCACCA TCACCATCATCACCATCACCATCATCACCATCATCAACATCATCACCATC ACATCATCACCATCATCACCATCACCATCATCACCATCATCAACATCATC ACCATCATCACCATCACCATCATCACCATCACCATCATCACCATCATCAC CATCACATCATCACCGTCACCATCATCACCATCATCACCATCACCATCAT CACCATCACCATCATCACCATCATCACTATCATCACCATCACCATCACCA TCATCACCATCACCATCATCACCATCATCACCATCATCACTATCATCACC ATCACATCATCACCATCACCATCATCACCATCATCACTATCATCGCCATC ACATCATCACCATCACCACCATCATCAACATCACCATCCCATCATCACCA TAATCACCATCACCATCATCACCATCATCACCATCATCACCATCACCATC ATCACTATCACCATCATCACCATCAGCATCATCACCATCATCACTATCAC ATCATCACCATCACATCATCACCATCACCATCATCACCATCATCACTATC ATCGCCATCACATCATCACCATCACCACCATCATCAACATCACCATCACA TCATCACCATCACCATCATCACCATCATCACCATCACCATCATCACCATC ACCATCACAGTCACCATCACCATCACCACCACATCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar

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