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
HBQ1_chr16_175459_186179	186084	G G	GGGGAACA others(479): Show GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACA CGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACA GCGACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACG GGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGC GACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGA ACAGCGACACGGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGG GAGGAACAGCGACACGGGGGAGGAACAGCGACACGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	291	0.0034	486	c.49 others(497): Show c.4976_*4977insGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGAGGG AACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACG GA	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4906		chr16	TogoVar
INPP5A_chr10_132532787_132788480	132772351	A A	ACCCCATG others(479): Show ACCCCATGAAGAGTGGGATGGACACTCAGCACTGACACAGAGGCCACGGC AGCCGCCCCACGAAGAGTGGGACGGACACTCAGCACTGACACGGAGGCCA CGGCAGCCGCCCCACGAAGAGTGGGACGGACACTCAGCACTGACACGGAG GCCACGGCAGCCGCCCCACGAAGAGTGGGACGGACACTCAGCACTGACAC GGAGGCCACGGCAGCCGCCCCACGAAGAGTGGGACGGACACTCAGCACTG ACACGGAGGCCACGGCAGCCGCCCCACGAAGAGTGGGACAGACACTCAGC ACTGACACAGAGGCCACAGCAGCCACCCCATGAAGAGTGGGACAGACACT CAGCACTGACACAGAGGCCCCGGCAGCCACCCCATGAAGAGTGGGACAGA CACTCAGCACTGACACAGAGGCCACAGCAGCCACCCCATGAAGAGTGGGA CGGACACTCAGCACTGACACGGAGGCCCCGGCAGCCG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	189	0.0053	486	c.978 others(503): Show c.978-5303_978-5302insTGGACACTCAGCACTGACACAGAGGCCA CGGCAGCCGCCCCACGAAGAGTGGGACGGACACTCAGCACTGACACGGAG GCCACGGCAGCCGCCCCACGAAGAGTGGGACGGACACTCAGCACTGACAC GGAGGCCACGGCAGCCGCCCCACGAAGAGTGGGACGGACACTCAGCACTG ACACGGAGGCCACGGCAGCCGCCCCACGAAGAGTGGGACGGACACTCAGC ACTGACACGGAGGCCACGGCAGCCGCCCCACGAAGAGTGGGACAGACACT CAGCACTGACACAGAGGCCACAGCAGCCACCCCATGAAGAGTGGGACAGA CACTCAGCACTGACACAGAGGCCCCGGCAGCCACCCCATGAAGAGTGGGA CAGACACTCAGCACTGACACAGAGGCCACAGCAGCCACCCCATGAAGAGT GGGACGGACACTCAGCACTGACACGGAGGCCCCGGCAGCCGCCCCATGAA GAGTGGGA	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
IQSEC3_chr12_61767_183455	103869	G G	GGGGGTAG others(479): Show GGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGAGGGAGAGGT GGAGTTCGGGGGGAGGCGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGG GAGGTAGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCAGGGCTG GGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGG CTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTCAGGGGGGAGG CGGGGGCTCTGGAGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGCTCGG GAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGG GGCTCGGGAGGGGAGGCGGGGGCTCGGGAGGAGGCGGGGCTCAGGGGGGA GGCGGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCG GGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0050 a0001c0002t0050	a0001c0002t0050g0262 a0001c0002t0050g0262	1	253	0.0040	486	c.623 others(503): Show c.623+4656_623+4657insGGGTAGGTGGGGGCTCAGGAGGGGAGGT GGGACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCGGGGCTCGGGGGG TAGGTGGGGGCTCAGGAGGGGAGGTAGGACTCAGGAGGGAGAGGTGGAGT TCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGG GGCTCAGGGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGA GGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGGCTCG GGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCG GGGGCTCGGGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGAG GAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGC GGGGCTCG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
ITPA_chr20_3204498_3228860	3228014	C C	CCCTCCTG others(479): Show CCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCT GGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCTCTA GGCTGGGCTCCTCCTGCCCGCCACCCACCCCAGCCCGCCCACTCTCCACC TCTAGGCTGGGCTCCTCCTGCCCGCCACCCACCCCAGCCCGCCCACTCTC CACCTCTAGGCTGGGCTCCTCCTGCCCACCACCCACCCCAGCCCGCCCAC TCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGC CCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCACCCACCCCAGC CCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCACCCACCC CAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCACCACCC ACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0080 a0001c0003t0001g0080	1	410	0.0024	486	c.45 others(497): Show c.4552_*4553insCCTCCTGCCCACCACCCACCCCAGCCCGCCCACT CTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCC CACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCACCCACCCCAGCC CGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCACCCACCCC AGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCACCACCCA CCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCA GCCTCCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCC GCCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCT GCCCGCCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCC TCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGG CT	ITPA	ENSG00000125877.13	transcript	ENST00000380113.8	protein_coding		4155		chr20	TogoVar
KCNJ6_chr21_37602373_37921457	37707711	T T	TAGTGTGT others(479): Show TAGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGCATGTGTATTCAT GTGTGTGTATATTTGTGTGTGCATGTGTATGCACGTGCGTGCATGTATGT GTGTGTATACACGTATATGTATTTGTGTGTGCATGTGTATGCATGTGTGT GCATGTATGGGCATGTGTGTATACCTGTGTGTATGTGTATTTGTGTTGCA TGTGTGTATATGTGTGTGTATTTACATGTGCATGTGTATACCTGTGTGTA CGTGTATTTGTGCGTGTGTATTTACATGTGCACGTGTATGCATGTGTGTA TGTGTATGCATGTGTGTATGTGTGTGCATATGTGTATGCATGTGTGTATG TGTGCATGTGTATATATGTGTCTATGTACTTGTGTGTATGTGTATGCATG TGTGTGTACATGTATGTATACGTGTGTATTTGTGTGTGCATGTGTATGCA CGTGTGTGTATGTGTGTAGGAGTGTGTGTGTGTGGGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00738.hp2 others(15): Show HG00323.hp1 HG00438.hp1 HG00738.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01358.hp1 HG01433.hp2 HG02132.hp2 HG02300.hp2 HG02895.hp1 HG02897.hp1 HG03017.hp1 HG03041.hp1 HG03486.hp1 HG04115.hp2 NA19060.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0062 a0001c0001t0087 a0001c0001t0110 others(12): Show a0001c0001t0062 a0001c0001t0087 a0001c0001t0110 a0001c0001t0170 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0019 a0001c0002t0143 a0001c0002t0147 a0001c0002t0149 a0001c0002t0154 a0001c0002t0187 a0001c0006t0080	a0001c0001t0062g0193 a0001c0001t0087g0169 a0001c0001t0110g0062 others(15): Show a0001c0001t0062g0193 a0001c0001t0087g0169 a0001c0001t0110g0062 a0001c0001t0170g0095 a0001c0002t0004g0011 a0001c0002t0004g0012 a0001c0002t0005g0127 a0001c0002t0005g0155 a0001c0002t0006g0053 a0001c0002t0006g0091 a0001c0002t0007g0040 a0001c0002t0019g0022 a0001c0002t0143g0009 a0001c0002t0147g0094 a0001c0002t0149g0189 a0001c0002t0154g0188 a0001c0002t0187g0197 a0001c0006t0080g0034	18	43	0.4186	486	c.946 others(503): Show c.946+6499_946+6500insCCCCACACACACACACTCCTACACACAT ACACACACGTGCATACACATGCACACACAAATACACACGTATACATACAT GTACACACACATGCATACACATACACACAAGTACATAGACACATATATAC ACATGCACACATACACACATGCATACACATATGCACACACATACACACAT GCATACACATACACACATGCATACACGTGCACATGTAAATACACACGCAC AAATACACGTACACACAGGTATACACATGCACATGTAAATACACACACAT ATACACACATGCAACACAAATACACATACACACAGGTATACACACATGCC CATACATGCACACACATGCATACACATGCACACACAAATACATATACGTG TATACACACACATACATGCACGCACGTGCATACACATGCACACACAAATA TACACACACATGAATACACATGCACACATACACACACACACACACACACA CACACACT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37707712	A A	AGTGTGTG others(479): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTATATGTGTGCATGTGTATCCATG TGTGTGTATATTTGTGTGTGCATGTGTATGCACGTGCGTGCATGTATGTG TGTGTATACACGTATATGTATTTGTGTGTGCATGTGTATGCATGTGTGTG CATGTATGGGCATGTGTGTATACCTGTGTGTATGTGTATTTGTGTTGCAT GTGTGTATATGTGTGTGTATTTACATGTGCATGTGTATACCTGTGTGTAC GTGTATTTGTGCGTGTGTATTTACATGTGCACGTGTATGCATGTGTGTAT GTGTATGCATGTGTGTATGTGTGTGCATATGTGTATGCATGTGTGTATGT GTGCATGTGTATATATGTGTCTATGTACTTGTGTGTATGTGTATGCATGT GTGTGTACATGTATGTATACGTGTGTATTTGTGTGTGCATGTGTATGCAC GTGTGTGTATGTGTGTAGGAGTGTGTGTGTGTGGGGT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0098	a0001c0001t0098g0163 a0001c0001t0098g0163	1	172	0.0058	486	c.946 others(503): Show c.946+6498_946+6499insACCCCACACACACACACTCCTACACACA TACACACACGTGCATACACATGCACACACAAATACACACGTATACATACA TGTACACACACATGCATACACATACACACAAGTACATAGACACATATATA CACATGCACACATACACACATGCATACACATATGCACACACATACACACA TGCATACACATACACACATGCATACACGTGCACATGTAAATACACACGCA CAAATACACGTACACACAGGTATACACATGCACATGTAAATACACACACA TATACACACATGCAACACAAATACACATACACACAGGTATACACACATGC CCATACATGCACACACATGCATACACATGCACACACAAATACATATACGT GTATACACACACATACATGCACGCACGTGCATACACATGCACACACAAAT ATACACACACATGGATACACATGCACACATATACACACACACACACACAC ACACACAC	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNT2_chr1_196220779_196613440	196437080	T T	TATAAATA others(479): Show TATAAATATATATTTATATACATAAATATATTTATATATAAATATATATT TTTATATATATTTATATATAAATATATATTTTTATATATATTTATGTATA TATTTATATATAAATATATATTTATATATTTATATATATTTATGTATATA CATAAATATATATTTATATATATTTATATATATACATAAATATATATTTA TATATAAATATATATTTATATATATACATAAATATATATTTATATATATT TATATATATACATAAATATATATTTATATATAAATATATATTTATATATT TATATATATTTATATACATAAATATATATTTATATATATTTATATATATT TATATACATAAATATATATTTATATATATTTATATATATAAATATATATT TATATATATTTATATATATTTATATACATAAATATATATTTATATATATT TATATACATAAATATATATTTATATATATTTATATAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA19030.hp2 NA19240.hp2 NA18522.hp2 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0108 a0001c0003t0001g0111 a0001c0003t0001g0112 a0001c0003t0001g0108 a0001c0003t0001g0111 a0001c0003t0001g0112	3	52	0.0577	486	c.639 others(503): Show c.639-7324_639-7323insGTATATAAATATATATAAATATATATTT ATGTATATAAATATATATAAATATATATTTATGTATATAAATATATATAA ATATATATAAATATATATTTATATATATAAATATATATAAATATATATTT ATGTATATAAATATATATAAATATATATAAATATATATTTATGTATATAA ATATATATAAATATATAAATATATATTTATATATAAATATATATTTATGT ATATATATAAATATATATAAATATATATTTATGTATATATATAAATATAT ATTTATATATAAATATATATTTATGTATATATATAAATATATATAAATAT ATATTTATGTATATACATAAATATATATAAATATATAAATATATATTTAT ATATAAATATATACATAAATATATATAAAAATATATATTTATATATAAAT ATATATAAAAATATATATTTATATATAAATATATTTATGTATATAAATAT ATATTTAT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	8/27			chr1	TogoVar
KIAA0232_chr4_6777727_6889164	6879827	C C	CCCTCACC others(479): Show CCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACCCA TCTGCAGTGCCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCC CAACACACAGGTCTGCAGTGTCCCCTCACCATCTGTACTGTGTCACTGCA AACTCCCTTCCCAACACACAGATCTGCAGTGTCCCCTCACCATCTGTACT GTGTCACTGCAAACTCCCTTCCCAACACACAGGTCTGTAGTGTCCCCTCA CCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACAGGTCTGTA GTGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACAC AGAGGTCTGCAGTGCCCCCTCACCATCTGTACTGTGTCACTGCAAACTCC CTTCCCAACACACAGGTCTGTAGTGTCCCCTCACCATCTGTACTGTGTCA CTGCAAACTCCCTTCCCAACACAGAGGTCTGCAGTGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0041 a0001c0001t0005g0041	1	349	0.0029	486	c.400 others(503): Show c.4009-958_4009-957insTCACCATCTGTACTGTGTCACTGCAAAC TCCCTTCCCAACACACCCATCTGCAGTGCCCCCTCACCATCTGTACTGTG TCACTGCAAACTCCCTTCCCAACACACAGGTCTGCAGTGTCCCCTCACCA TCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACAGATCTGCAGTG TCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACA GGTCTGTAGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTT CCCAACACACAGGTCTGTAGTGTCCCCTCACCATCTGTACTGTGTCACTG CAAACTCCCTTCCCAACACAGAGGTCTGCAGTGCCCCCTCACCATCTGTA CTGTGTCACTGCAAACTCCCTTCCCAACACACAGGTCTGTAGTGTCCCCT CACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACAGAGGTCTG CAGTGTCC	KIAA0232	ENSG00000170871.12	transcript	ENST00000307659.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
LHPP_chr10_124456823_124619141	124610929	A A	AGGGTGAG others(479): Show AGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGT GTTGACGGAGCGGGTGAGGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGA GGGTGAGGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAGGGTG AGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGAG GGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGATGG AGCGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTGCTG ATGGAGCGGGCGAGGGTGCGGGTGAGGGTGCTGATGGAGCGGGTGAGGGT GAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGA GGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGAGGGTGAGGGTG CTGATGGAGCGGGTGAGGGTGAGGGTGTTGACGGAGC	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	185	0.0054	486	c.717 others(503): Show c.717-2318_717-2317insAGGGTGCTGATGGAGCGGGTGAGGGTGA GGGTGTTGACGGAGCGGGTGAGGGTGAGGGTGCTGATGGAGCGGGCGAGG GTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAG GGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGTTGACGGAGCGGG TGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTG ATGGAGCGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGT GCTGATGGAGCGGGCGAGGGTGCGGGTGAGGGTGCTGATGGAGCGGGTGA GGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTGCTGATGGAGCGG GTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGAGGGTGAG GGTGCTGATGGAGCGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGAGGG TGAGGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(479): Show CCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGG CCACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACCCG GGCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACA TACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACTACATA CCCGGGCCACTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTAC TACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTT ACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGC TTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA19003.hp2 NA18612.hp1 NA19003.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0022 a0002c0003t0022 a0001c0004t0022 a0002c0003t0022	a0001c0004t0022g0160 a0002c0003t0022g0094 a0001c0004t0022g0160 a0002c0003t0022g0094	2	7	0.2857	486	c.368 others(503): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG TGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTG GCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAG TAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTA AGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAG TAAGTAAGTGGCCCGGGTATGTAGTAAGTACGTGGCCCGGGTATGTAGTA AGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
MAN2B2_chr4_6570189_6628362	6579307	C C	CCACCACC others(479): Show CCACCACCACCACCACCATCACCATCACCACCACCACCACCATCACCACC ACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCAC CATCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCA CCATCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCAT CACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCA TCACCACCACCACCACCACCACCACCACCACCACCATCACCACCATCACC ACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCATCAC CACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCA CCACCATCACCATCACCACCACCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0241 a0002c0002t0001g0241	1	270	0.0037	486	c.391 others(501): Show c.391+820_391+821insCCACCATCACCATCACCACCACCACCACCA TCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACC ATCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCAC CATCACCACCATCACCACCACCACCACCACCACCACCACCACCACCATCA CCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCATC ACCACCATCACCACCACCACCACCACCACCACCATCACCACCATCACCAC CACCACCATCACCACCACCACCACCACCACCACCACCACCACCATCACCA CCATCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACC ACCATCACCACCACCACCACCACCACCACCATCACCACCATCACCACCAC CACCACCACCACCATCACCATCACCACCACCACCATCACCACCATCACCA CCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MEGF6_chr1_3482951_3616508	3583270	A A	ACAGCCAC others(479): Show ACAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCA GACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGC AGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGA CAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCAC CAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCGCAG CCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCC ACAGCCACCAGACAACGCGCAGCCACCAGACAACGCG	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0018 a0018	a0018c0015 a0018c0015	a0018c0015t0001 a0018c0015t0001	a0018c0015t0001g0135 a0018c0015t0001g0135	1	242	0.0041	486	c.377 others(503): Show c.377-3342_377-3341insCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTG GCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583504	G G	GCAGCCAC others(479): Show GCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCC ACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAG CCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCC ACAGCCACCAGACAACGCGCAGCCACCAGACAACCCA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0174 a0006c0006t0001g0174	1	238	0.0042	486	c.377 others(503): Show c.377-3576_377-3575insTGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGG TTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTG GCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583610	G G	GCGCAGCC others(479): Show GCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCAC CAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAG CCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCC GCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCGCAGCCACCA GACAACCCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCC ACCAGACAACGCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0104 a0002c0104	a0002c0104t0001 a0002c0104t0001	a0002c0104t0001g0027 a0002c0104t0001g0027	1	265	0.0038	486	c.377 others(503): Show c.377-3682_377-3681insGGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCG TTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG CGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTG GCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTG GGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGCG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEX3D_chr19_1549672_1573325	1550119	T T	TTCATCCA others(479): Show TTCATCCACCCTCCCACCCATCCATCCATCCATCCACCCATCCATTCACT CACCTGCCCATCCACCCATCCATTCACGCACCTGCCCATCCACCCATCCA TGCACTCACCTGCCTATCCAGCCAGCCATCCATCCATCCATCCATCCAGC CATCCATCCAATCATCCACCCACCCATCCATCCATCCATCCAACCATCCA CCCACTCATCTATCCATCCATCCTATCCATCCATCCATCCAGTTTACCCA CCCTCTCATCCATCCACCCACCCATCCACTTGTCCACCCATCCACCTGTT CACCCATCCACCCATCCATCCATCCATCCAACCATCCACCCATCTATCCA TCCATCCATCCAACCACTCATCCGTCCATCCATCCAGCCATCCATCCATT TACCCACTCTCCCATCCACCCACCCATCGACTTGTCCACCCATACACCTG TTCACCCATCCACCCATCCATCCATCCATCCATCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	369	0.0027	486	c.54 others(497): Show c.5443_*5444insTTGGATGGATGGATGGATGGATGGGTGGATGGGT GAACAGGTGTATGGGTGGACAAGTCGATGGGTGGGTGGATGGGAGAGTGG GTAAATGGATGGATGGCTGGATGGATGGACGGATGAGTGGTTGGATGGAT GGATGGATAGATGGGTGGATGGTTGGATGGATGGATGGATGGGTGGATGG GTGAACAGGTGGATGGGTGGACAAGTGGATGGGTGGGTGGATGGATGAGA GGGTGGGTAAACTGGATGGATGGATGGATAGGATGGATGGATAGATGAGT GGGTGGATGGTTGGATGGATGGATGGATGGGTGGGTGGATGATTGGATGG ATGGCTGGATGGATGGATGGATGGATGGCTGGCTGGATAGGCAGGTGAGT GCATGGATGGGTGGATGGGCAGGTGCGTGAATGGATGGGTGGATGGGCAG GTGAGTGAATGGATGGGTGGATGGATGGATGGATGGGTGGGAGGGTGGAT GA	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4552		chr19	TogoVar
MICAL3_chr22_17782649_18029561	17876838	G G	GGGAGGTT others(479): Show GGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAG GTTAGGGAGGTTAAGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGC TTATGGAGGTTAGGGAGGTTATGAAGGTTAGGGAGGTTACGGAGGTTAGG GAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGT TATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGG AGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTT AGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGA GGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTA TGGAGGTTATGGAGGTTAGGGAGGTTATGGCAGTTAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0006 a0007c0013t0006	a0007c0013t0006g0186 a0007c0013t0006g0186	1	217	0.0046	486	c.224 others(505): Show c.2242-4816_2242-4815insATAACTGCCATAACCTCCCTAACCTC CATAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCCTAA CCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCC ATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCATAACTTCCCTAAC CTCCATAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCC TAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACC TCCATAACCTCCCTAACCTCCGTAACCTCCCTAACCTTCATAACCTCCCT AACCTCCATAAGCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCT CCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCTTA ACCTCCCTAACCTCCATAAGCTCCCTAACCTCCATAACCTCCCTAACCTC CATAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877403	T T	TATGGAGG others(479): Show TATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGG AGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTT AGGGAGGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGA GGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTA GGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAG GTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGG TTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATG GAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGT GAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01175.hp1 HG01074.hp1 HG01175.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0125 a0005c0008t0001g0128 a0005c0008t0001g0125 a0005c0008t0001g0128	2	230	0.0087	486	c.224 others(505): Show c.2242-5381_2242-5380insCACCTCCATAACCTCCCTAACCTCCA TAACCTCCCTCACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACC TCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCAT AACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCATAACTT CCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATA ACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTC CATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCATAA CTTCCCTAACCTCCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCC ATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCAC CTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCC TAACCTCCAT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877423	G G	GGGAGGTT others(479): Show GGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAA GTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAT GGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGG TTATGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTATG GAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGT TAGGGAGGTTATGGAGGTTAGGGAAGTTAGGGAGGTTATGGAGGTTAGGG AGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTT AGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGA GGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTA TGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0005 a0005	a0005c0067 a0005c0067	a0005c0067t0001 a0005c0067t0001	a0005c0067t0001g0063 a0005c0067t0001g0063	1	262	0.0038	486	c.224 others(505): Show c.2242-5401_2242-5400insATAACCTCCCTAACCTCCATAACCTC CATAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAA CCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCC ATAACCTCCCTAACTTCCCTAACCTCCATAACCTCCCTAACCTCCCTAAC CTCCATAACCTCCCTAACCTCCATAACCTCCCTAACTTCCCTAACCTCCA TAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACC TCCCTAACCTCCATAACCTCCATAACCTCCCTAACCTCCATAACCTCCAT AACCTCCATAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCT CCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATA ACCTCCCTAACTTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTC CATAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500080	T T	TGGTGGTG others(479): Show TGGTGGTGGTGGTGGTGGTGAGGGAGGTGGTGATGGGGGTGGTGGTGGTG ATGGTGGAGGTGATGGAGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGAT GGAGGTGGCGGTGATGGCGATGGAGGTGGTAGTGGTGGTGATGAAGGTGG TGATGGAGGTGGTAATGGAGGTGGTGGGGGTGATGGTGGTGATGGTGATG GAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGAT GGTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGA TGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGG GTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGATGGCGATGGAGGTGGT GATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGGTGGTGATGGAGGTGG TGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0010 a0001c0013t0010	a0001c0013t0010g0094 a0001c0013t0010g0094	1	236	0.0042	486	c.748 others(503): Show c.748+1734_748+1735insGTGGTGGTGGTGGTGAGGGAGGTGGTGA TGGGGGTGGTGGTGGTGATGGTGGAGGTGATGGAGGTGGTGGTGGTGGTG GTGGTGGTGATGGTGATGGAGGTGGCGGTGATGGCGATGGAGGTGGTAGT GGTGGTGATGAAGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGGGGTGA TGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATG GAGGTGGCGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGAT GGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGA TGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTG ATGGCGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGT GGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGG TGGCGGTG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(479): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCAAGGAGGGAGGTGGGGGGGGGG TCAGCCCCCCCGCCCGGACAGCCGCCCCATCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG03017.hp2 HG01358.hp2 HG03017.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0247 a0001c0007t0001g0248 a0001c0007t0001g0247 a0001c0007t0001g0248	2	60	0.0333	486	c.241 others(505): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGGC GGGGGGGCTGACCCCCCCCCCACCTCCCTCCTTGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCAGACGGGGCGGCTGGCCCAGCGGAGGGCTGACCCCCCCACC TCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(479): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATATAAATATATATAAATATATATAAATATATATATAAA TATATATAAATATATATAAATATATATAAATATATATAAATATATATAAA TATATATTTAGCTATATTTATATCAGATAAAATGGATTAAAAGTCAAAAA CTGTAAAATGAGACAAAGAAGGCCATTATATAACGATAAAGCAGTCAATT CTTCAAGAGCATATAACTACTGTAAATATATATATTATATATATATAAAA CCAAAACCAGAAGACCTAATTATATATATATATTTAGGTCCTCTGGTTTT GGTTTTTTTTATATATATATATATATTTAGGTCTTCTGGTTTTGGTTTTA TATATATATTTATATATTTATATAAATATAAATATATAAATATATATAAT TATATATATATTTAGGTCCTCTGGTTTTGGTTATATG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0213 a0001c0001t0006g0213	1	8	0.1250	486	c.293 others(505): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATATAAATATATATAAATATATATAAATATATATATAAATATATATAAA TATATATAAATATATATAAATATATATAAATATATATAAATATATATTTA GCTATATTTATATCAGATAAAATGGATTAAAAGTCAAAAACTGTAAAATG AGACAAAGAAGGCCATTATATAACGATAAAGCAGTCAATTCTTCAAGAGC ATATAACTACTGTAAATATATATATTATATATATATAAAACCAAAACCAG AAGACCTAATTATATATATATATTTAGGTCCTCTGGTTTTGGTTTTTTTT ATATATATATATATATTTAGGTCTTCTGGTTTTGGTTTTATATATATATT TATATATTTATATAAATATAAATATATAAATATATATAATTATATATATA TTTAGGTCCTCTGGTTTTGGTTATATGTATATATATATATTTAGGTCCTC TGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ACATATAT others(479): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATGTATATTC ATATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02280.hp1 NA18946.hp1 others(4): Show HG00544.hp1 HG02280.hp1 NA18946.hp1 NA18956.hp1 NA18961.hp2 NA19012.hp2 NA19030.hp1	a0004 a0008 a0004 a0008	a0004c0004 a0008c0008 a0004c0004 a0008c0008	a0004c0004t0001 a0008c0008t0001 a0004c0004t0001 a0008c0008t0001	a0004c0004t0001g0004 a0004c0004t0001g0042 a0008c0008t0001g0055 others(1): Show a0004c0004t0001g0004 a0004c0004t0001g0042 a0008c0008t0001g0055 a0008c0008t0001g0056	7	174	0.0402	486	c.394 others(501): Show c.394-653_394-652insGTTCATATATATATTCATATATATATGTTC ATGTATATTCATATATATATGTTCATATATATATTCATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATGTTCATATATATATTCAT ATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ACATATAT others(479): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATGTATATTC ATATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03453.hp2 HG03490.hp2 others(2): Show HG02040.hp2 HG03453.hp2 HG03490.hp2 HG04115.hp2 NA19091.hp1	a0004 a0004	a0004c0004 a0004c0026 a0004c0004 a0004c0026	a0004c0004t0001 a0004c0026t0001 a0004c0004t0001 a0004c0026t0001	a0004c0004t0001g0034 a0004c0004t0001g0052 a0004c0004t0001g0065 others(2): Show a0004c0004t0001g0034 a0004c0004t0001g0052 a0004c0004t0001g0065 a0004c0004t0001g0073 a0004c0026t0001g0032	5	172	0.0291	486	c.394 others(501): Show c.394-653_394-652insGTTCATATATATATTCATATATATATGTTC ATGTATATTCATATATATATGTTCATATATATATTCATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99589024	T T	TGTATATT others(479): Show TGTATATTCATATATATATGTTCATATATATATTCATATATATGTTCATA TATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCA TATATATATTCATATATATATGTTCATATATATATTCATATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCATATATATATGTTCATATATATATTCATATATATA TGTTCATATATATATTCATATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTC	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0029 a0004c0004t0001g0029	1	350	0.0029	486	c.394 others(501): Show c.394-619_394-618insGTATATTCATATATATATGTTCATATATAT ATTCATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTC	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(479): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATGCATATATATATGTTCATATAT ATATGCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATGCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0298 a0002c0002t0002g0298	1	165	0.0061	486	c.394 others(501): Show c.394-608_394-607insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATGCA TATATATATGTTCATATATATATGCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATGCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MYCBP_chr1_38857493_38878348	38870012	C C	CAAAAAAA others(479): Show CAAAAAAAATTAGCCGGGGGTCTCCGGTCCGTGCCTCCAAGATGACAAAG AAAAGAAGGAACAATGGTCGTGCCAAAAAGGGCCGCGGCCACGTGCAGCC TATTCGCTGCACTAACTGTGCCCGATGCGTGCCCAAGGACAAGGCCATTA AGAAATTCGTCATTCGAAACATAGTGGAGGCCGCAGCAGTCAGGGACATT TCTGAAGCGAGCGTCTTCGATGCCTATGTGCTTCCCAAGCTGTATGTGAA GCTACATTACTGTGTGAGTTGTGCAATTCACAGCAAAGTAGTCAGGAATC GATCTCGTGAAGCCCGCAAGGACCGAACACCCCCACCCCGATTTAGACCT GCGGGTGCTGCCCCACGTCCCCCACCAAAGCCCATGTAAGGAGCTGAGTT CTTAAAGACTGAAGACAGGCTATTCTCTGGAGAAAAATAAAATGGAAATT GTACTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18972.hp1 NA19012.hp1 NA18951.hp2 NA18972.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0189 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0189	3	419	0.0072	486	c.89- others(501): Show c.89-2403_89-2402insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TAAGTACAATTTCCATTTTATTTTTCTCCAGAGAATAGCCTGTCTTCAGT CTTTAAGAACTCAGCTCCTTACATGGGCTTTGGTGGGGGACGTGGGGCAG CACCCGCAGGTCTAAATCGGGGTGGGGGTGTTCGGTCCTTGCGGGCTTCA CGAGATCGATTCCTGACTACTTTGCTGTGAATTGCACAACTCACACAGTA ATGTAGCTTCACATACAGCTTGGGAAGCACATAGGCATCGAAGACGCTCG CTTCAGAAATGTCCCTGACTGCTGCGGCCTCCACTATGTTTCGAATGACG AATTTCTTAATGGCCTTGTCCTTGGGCACGCATCGGGCACAGTTAGTGCA GCGAATAGGCTGCACGTGGCCGCGGCCCTTTTTGGCACGACCATTGTTCC TTCTTTTCTTTGTCATCTTGGAGGCACGGACCGGAGACCCCCGGCTAATT TTTTTT	MYCBP	ENSG00000214114.9	transcript	ENST00000397572.5	protein_coding	2/4			chr1	TogoVar
MYH11_chr16_15698135_15862028	15821935	A A	AAAAAAAA others(479): Show AAAAAAAAAAAAAAAAGAACCAGGAATGGTTCAAACAAATCATAAACACT CCAATCCCCTCTGCCAGTGATTGCTGTAGGGGTTAGCATATGACCAAGTT TCTACCTGACTTAAAAAAAAAAGAGAGAGACACAGGGAAAGAACCTTACC CTCCACTTCCTTCATGCTTTTGGATATTATCACATGAAAACGTGATATCT GGAACTATGGCTACCACTTTGTGACCATGAGGAAGAAGCTGAGAAAAATC CCAAGGAAGTCAACCCTGAAATCAGCCACTAGACTTCCCGTTATGTGAGG CAATGAACTCCTACTGGTTAAGCCACTTTAGTTAGTTGTTATCTTACTTG CAACCAAAAGCACCCCAAATGATAGGAACACTGAGGTCTGTGATGCTCAG CTTCCCAAAGGTGTACACGAACCACTTTGTAAATACTCTTCCATCAAGGG ACACCATAAAGAATGTGTGTGTTTGTGTGTTTAATAC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0171 a0001c0002t0001g0171	1	253	0.0040	486	c.502 others(503): Show c.502+1319_502+1320insGTATTAAACACACAAACACACACATTCT TTATGGTGTCCCTTGATGGAAGAGTATTTACAAAGTGGTTCGTGTACACC TTTGGGAAGCTGAGCATCACAGACCTCAGTGTTCCTATCATTTGGGGTGC TTTTGGTTGCAAGTAAGATAACAACTAACTAAAGTGGCTTAACCAGTAGG AGTTCATTGCCTCACATAACGGGAAGTCTAGTGGCTGATTTCAGGGTTGA CTTCCTTGGGATTTTTCTCAGCTTCTTCCTCATGGTCACAAAGTGGTAGC CATAGTTCCAGATATCACGTTTTCATGTGATAATATCCAAAAGCATGAAG GAAGTGGAGGGTAAGGTTCTTTCCCTGTGTCTCTCTCTTTTTTTTTTAAG TCAGGTAGAAACTTGGTCATATGCTAACCCCTACAGCAATCACTGGCAGA GGGGATTGGAGTGTTTATGATTTGTTTGAACCATTCCTGGTTCTTTTTTT TTTTTTTT	MYH11	ENSG00000133392.18	transcript	ENST00000300036.6	protein_coding	3/40			chr16	TogoVar
NALCN_chr13_101048776_101421508	101334409	C C	CACATACA others(479): Show CACATACATTCAAGAAGAGAATGGAGAGAGGCAATCCAGGAAGAATGGGA TGAACACATACATTCAAGAGGAGAATGGAGAGAGGCATTCCAGGAAGAAT GGGATGAACACATACATTCAAGAAGAGAATGGAGAGAGGCAATCCAGGAA GAATGGGATGAACACATACATTCAAGAGGAGAATGGAGAGAGGCATTCCA GGAAGAATGGGATGAATACATACATTCAAGAAGAGAATGGAGAGAGGCAT TCCAGGAAGAATGGGATGAATACATACATTCAAGAAGAGAATGGAGAGAG GCATTCCAGGAAGAATGGGATGAATACATACATTCAAGAAGAGAATGGAG AGAGGCATTCCAGGAAGAATGGGATGAACACATACATTCAAGAAGAGAAT GGAGACAGGCATTCCAGGAAGAATGGGATGAACACATACATTCAAGAGGA GAATGGAGAGAGGCATTCCAGGAAGAATGGGATGAAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA18964.hp2 HG00099.hp2 NA18964.hp2	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0001 a0001c0008t0001 a0001c0003t0001 a0001c0008t0001	a0001c0003t0001g0158 a0001c0008t0001g0172 a0001c0003t0001g0158 a0001c0008t0001g0172	2	158	0.0127	486	c.799 others(505): Show c.799+10856_799+10857insATTCATCCCATTCTTCCTGGAATGCC TCTCTCCATTCTCCTCTTGAATGTATGTGTTCATCCCATTCTTCCTGGAA TGCCTGTCTCCATTCTCTTCTTGAATGTATGTGTTCATCCCATTCTTCCT GGAATGCCTCTCTCCATTCTCTTCTTGAATGTATGTATTCATCCCATTCT TCCTGGAATGCCTCTCTCCATTCTCTTCTTGAATGTATGTATTCATCCCA TTCTTCCTGGAATGCCTCTCTCCATTCTCTTCTTGAATGTATGTATTCAT CCCATTCTTCCTGGAATGCCTCTCTCCATTCTCCTCTTGAATGTATGTGT TCATCCCATTCTTCCTGGATTGCCTCTCTCCATTCTCTTCTTGAATGTAT GTGTTCATCCCATTCTTCCTGGAATGCCTCTCTCCATTCTCCTCTTGAAT GTATGTGTTCATCCCATTCTTCCTGGATTGCCTCTCTCCATTCTCTTCTT GAATGTATGT	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	7/43			chr13	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TAATATAA others(479): Show TAATATAATATATATAAATATATAATATATATAATATATATTATATATAA ATATATAATATATATTATATATTATATATATTATAATATATAATATATAT TATATATTATATATATTATAATATATAATATATATAATATATAATATATA TTATATATATATAATATATAATATATATTATATATAAATATATAATATAT AATATATATTATATATATATTATATAATATATAATATATTATATATATTA TATAATATATTGTATATTATATAATATATAATATATATTATATATAAATA TATAATATATTATATATTATATAATATATAATATATTATATATATTATAT TATATATATTATATTATATATAATATATTATATATTATATATTTATATAT AATATATATATAATATATATTATATATTATATAATATATAATATATTGTA TATTATATAATATATATAATATATTATATAATATATA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0074 a0003c0004t0006g0074	1	202	0.0050	486	c.48+ others(501): Show c.48+1020_48+1021insAATATAATATATATAAATATATAATATATA TAATATATATTATATATAAATATATAATATATATTATATATTATATATAT TATAATATATAATATATATTATATATTATATATATTATAATATATAATAT ATATAATATATAATATATATTATATATATATAATATATAATATATATTAT ATATAAATATATAATATATAATATATATTATATATATATTATATAATATA TAATATATTATATATATTATATAATATATTGTATATTATATAATATATAA TATATATTATATATAAATATATAATATATTATATATTATATAATATATAA TATATTATATATATTATATTATATATATTATATTATATATAATATATTAT ATATTATATATTTATATATAATATATATATAATATATATTATATATTATA TAATATATAATATATTGTATATTATATAATATATATAATATATTATATAA TATATA	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3			chr21	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TTATATAT others(479): Show TTATATATAAATATATAATATATATAATATATATTATATATAAATATATA ATATATATTATATATTATATATATTATAATATATATAATATATAATATAT ATTATATATAAATATATATAATATATAATATATATTATATATAAATATAT ATAATATATAATATATATTATATATAAATATATATAATATATAATATATA TTATATATAAATATATATAATATATAATATATATTATAAATATATATATA ATATATAATATATATTATAAATATATATATAATATATAATATATATTATA TATAAATATATAATATATAATATATATTATATTATATATTATATAATATG TAAATATATATTATATATATTATATAATATATAATATATTATATATATTA TATAATATATTATATATAATATAATATATAATATATTATATAATATATTA TATATTATATAATATATTATATATAATATATTATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0012 a0002c0003t0012	a0002c0003t0012g0195 a0002c0003t0012g0195	1	202	0.0050	486	c.48+ others(501): Show c.48+1021_48+1022insATATATAAATATATAATATATATAATATAT ATTATATATAAATATATAATATATATTATATATTATATATATTATAATAT ATATAATATATAATATATATTATATATAAATATATATAATATATAATATA TATTATATATAAATATATATAATATATAATATATATTATATATAAATATA TATAATATATAATATATATTATATATAAATATATATAATATATAATATAT ATTATAAATATATATATAATATATAATATATATTATAAATATATATATAA TATATAATATATATTATATATAAATATATAATATATAATATATATTATAT TATATATTATATAATATGTAAATATATATTATATATATTATATAATATAT AATATATTATATATATTATATAATATATTATATATAATATAATATATAAT ATATTATATAATATATTATATATTATATAATATATTATATATAATATATT ATATAT	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(479): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCTTCCATCCATTCATCCACTTGTTCATCCATCCATCCAT CCATCCATCCATCCTTCCATCCATTCATCCACTTGTCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCAC CTATCCATCCATCCGTCCGTCTGTCCCATCCGTCCGTCCATCCGTCCGTC CGTCCATCCATCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCA TCCATCCATCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCAT CCATTCATTAGTTTATCCATCCTCACCCATCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 NA18949.hp2 NA19065.hp2 HG00099.hp2 NA18949.hp2 NA19065.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0024	a0002c0002t0024g0005 a0002c0002t0024g0225 a0002c0002t0024g0359 a0002c0002t0024g0005 a0002c0002t0024g0225 a0002c0002t0024g0359	3	55	0.0545	486	c.47 others(495): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCTTCCATCCATTCATCCACTTGTTCATCCATCCATCCATCCAT CCATCCATCCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTAT CCATCCATCCGTCCGTCTGTCCCATCCGTCCGTCCATCCGTCCGTCCGTC CATCCATCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCA TCCATCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCAT TCATTAGTTTATCCATCCTCACCCATCCATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(479): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCTTCCATCCATTCATCCACTTGTTCATCCATCCATCCATCCAT CCATCCATCCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATTTGTCCATCCATCCAT CCACCTATCCATCCATCCGTCCGTCTGTCCCATCCGTCCGTCCATCCGTC CGTCCGTCCATCCATCCATCCATCCATTCTTCCATCCATCCATCCATTCA GCCATCCATCCATCCATCCATTCCATCCATCCATCCATCCATTCTTCCAT CCATCCATTCATTAGTTTATCCATCCTCACCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0092 a0002c0002t0092	a0002c0002t0092g0041 a0002c0002t0092g0041	1	53	0.0189	486	c.47 others(495): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCTTCCATCCATTCATCCACTTGTTCATCCATCCATCCATCCATCCAT CCATCCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCAC CTATCCATCCATCCGTCCGTCTGTCCCATCCGTCCGTCCATCCGTCCGTC CGTCCATCCATCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCA TCCATCCATCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCAT CCATTCATTAGTTTATCCATCCTCACCCATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(479): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCTTCCATCCATTCATCCACTTGTTCATCCATCCATCCATCCAT CCATCCATCCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCAC CTATCCATCCATCCGTCCGTCTGTCCCATCCGTCCGTCCATCCGTCCGTC CGTCCATCCATCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCA TCCATCCATCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCAT CCATTCATTAGTTTATCCATCCTCACCCATCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0093 a0002c0002t0093	a0002c0002t0093g0269 a0002c0002t0093g0269	1	53	0.0189	486	c.47 others(495): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCTTCCATCCATTCATCCACTTGTTCATCCATCCATCCATCCATCCAT CCATCCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTAT CCATCCATCCGTCCGTCTGTCCCATCCGTCCGTCCATCCGTCCGTCCGTC CATCCATCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCA TCCATCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCAT TCATTAGTTTATCCATCCTCACCCATCCATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678093	C C	CCATCCAT others(479): Show CCATCCATCCGTTCTTCCATCCACCCATTCATTAGTTTATCCATCCTCAC CCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCATCC ACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCTT CCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCTATCCATCCACCCTTCCATCCATTCATCCACTTGTCCAT CCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCC ATCCAGCCGTCCATCTGTCCCGTCCGTCCGTCCATCCGTCCGTCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATTCTTCCATCCATCCATC CATTCAGCCATCCATCCATCCATCCATCCATTCCATCCATCCATCCGTCC ATTCTTCCATCCATCCATTCATTAGTTTATCCATCCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02965.hp2 NA19240.hp2 HG02965.hp2 NA19240.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0053 a0004c0004t0069 a0004c0004t0053 a0004c0004t0069	a0004c0004t0053g0097 a0004c0004t0069g0211 a0004c0004t0053g0097 a0004c0004t0069g0211	2	362	0.0055	486	c.46 others(495): Show c.467_*468insGTTCTTCCATCCACCCATTCATTAGTTTATCCATCC TCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTC ATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCTATCCATCCACCCTTCCATCCATTCATCCACTTGT CCATCCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCT ATCCATCCAGCCGTCCATCTGTCCCGTCCGTCCGTCCATCCGTCCGTCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATTCTTCCATCCATC CATCCATTCAGCCATCCATCCATCCATCCATCCATTCCATCCATCCATCC GTCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTCATCCATCC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	468	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678093	C C	CCATCCAT others(479): Show CCATCCATCCGTTCTTCCATCCACCCATTCATTAGTTTATCCATCCTCAC CCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCATCC ACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCAT CCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCTATCCATCCACCCTTCCATCCATTCATCCACTTGTCCATCCAT CCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCC AGCCGTCCATCTGTCCCGTCCGTCCGTCCATCCGTCCGTCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATTCTTCCATCCATCCATC CATTCAGCCATCCATCCATCCATCCATCCATTCCATCCATCCATCCGTCC ATTCTTCCATCCATCCATTCATTAGTTTATCCATCCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0085 a0013c0012t0085	a0013c0012t0085g0060 a0013c0012t0085g0060	1	361	0.0028	486	c.46 others(495): Show c.467_*468insGTTCTTCCATCCACCCATTCATTAGTTTATCCATCC TCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTC ATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCTT CCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCTATCCATCCACCCTTCCATCCATTCATCCACTTGTCCAT CCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCC ATCCAGCCGTCCATCTGTCCCGTCCGTCCGTCCATCCGTCCGTCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATTCTTCCATCCATC CATCCATTCAGCCATCCATCCATCCATCCATCCATTCCATCCATCCATCC GTCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTCATCCATCC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	468	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678097	C C	CCATCCGT others(479): Show CCATCCGTTCTTCCATCCACCCATTCATTAGTTTATCCATCCTCACCCAT CCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCATCCACTT GTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCAT CCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCTATCCATCCACCCTTCCATCCATTCATCCACTTGTCCATCCAT CCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCC AGCCGTCCATCTGTCCCGTCCGTCCGTCCATCCGTCCGTCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATTCTTCCATCCATCCATC CATTCAGCCATCCATCCATCCATCCATCCATTCCATCCATCCATCCGTCC ATTCTTCCATCCATCCATTCATTAGTTTATCCATCCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp2 HG02055.hp2 NA18986.hp1 HG01891.hp2 HG02055.hp2 NA18986.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0005 a0003c0003 a0005c0005	a0003c0003t0078 a0005c0005t0079 a0005c0005t0081 a0003c0003t0078 a0005c0005t0079 a0005c0005t0081	a0003c0003t0078g0214 a0005c0005t0079g0187 a0005c0005t0081g0002 a0003c0003t0078g0214 a0005c0005t0079g0187 a0005c0005t0081g0002	3	362	0.0083	486	c.46 others(495): Show c.467_*468insGTTCTTCCATCCACCCATTCATTAGTTTATCCATCC TCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTC ATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCTATCCATCCACCCTTCCATCCATTCATCCACTTGT CCATCCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCT ATCCATCCAGCCGTCCATCTGTCCCGTCCGTCCGTCCATCCGTCCGTCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCTTCCATC CATCCATCCATTCAGCCATCCATCCATCCATCCATCCATTCCATCCATCC ATCCGTCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTCATCC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	468	INFO_REALIGN_3_PRIME	chr19	TogoVar
NHLRC4_chr16_562005_574495	571084	T T	TGTGTGTG others(479): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTG TGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTG TGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTG CCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTA GCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGT GTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGG CTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG02027.hp2 HG01167.hp1 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	401	0.0050	486	c.26 others(497): Show c.2665_*2666insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGT GTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAG CCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCC GTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCC TGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGC TAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTG TGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGC CC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1590		chr16	TogoVar
NHLRC4_chr16_562005_574495	571108	T T	TGTGTGTG others(479): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCCTAGCCTGTGTGTGTGTGT CTGCCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGG CTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCT AGCCTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTG TATATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTA GCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCC CGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTT GTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGT GTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTG TGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	350	0.0029	486	c.26 others(497): Show c.2689_*2690insGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCCTAG CCTGTGTGTGTGTGTCTGCCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTG TGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTG GTGCCCGTGTGTGTGTATATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCC TGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCT GGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGG GGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGG CTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAG CCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCAC CC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1614		chr16	TogoVar
NTSR1_chr20_62703836_62767771	62755580	T T	TCCATCCT others(479): Show TCCATCCTCCCTCCCTCCATCATCCCTCCCTCCCTCCATCCCTCATTCCA TCCCTCCCTCCCTCCCTCCATCCCTCCCTTCATCTATCCTCCCTCCCTCC CTCCCTCCATCCCTCATTCCATCCCTCCCTCTCTCCCTCCCTCCATCCAT CCTCCCTCCCTCCATCACTCCCTCCCTCCATCCATCCTCCCTCCCTCCAT CCATCATCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCCCTCCC TCCATCCCTCCCTTCATCTATCCTCCCTCCCTCCCTCCCTCCATCCCTCA TTCCATCCCTCCCTCTCTCCCTCCCTCCATCCATCCTCCCTCCCTCCATC ACTCCCTCCCTCCATCCATCCTCCCTCCCTCCATCCATCATCCCTCCCTC CCTCCATCCCTCATTCCATCCCTCCCTCCCTCCCTCCATCCATCATCCCT CCCTCCCTCCATCCCTCATTCCATCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0090	1	84	0.0119	486	c.916 others(501): Show c.916+696_916+697insATCCTCCCTCCCTCCATCATCCCTCCCTCC CTCCATCCCTCATTCCATCCCTCCCTCCCTCCCTCCATCCCTCCCTTCAT CTATCCTCCCTCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCTC TCCCTCCCTCCATCCATCCTCCCTCCCTCCATCACTCCCTCCCTCCATCC ATCCTCCCTCCCTCCATCCATCATCCCTCCCTCCCTCCATCCCTCATTCC ATCCCTCCCTCCCTCCCTCCATCCCTCCCTTCATCTATCCTCCCTCCCTC CCTCCCTCCATCCCTCATTCCATCCCTCCCTCTCTCCCTCCCTCCATCCA TCCTCCCTCCCTCCATCACTCCCTCCCTCCATCCATCCTCCCTCCCTCCA TCCATCATCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCCCTCC CTCCATCCATCATCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTC CCTCCC	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ODF3_chr11_191761_205258	196197	G G	GGGGACCT others(479): Show GGGGACCTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTG AGGGGACCTGGTGAGGGGACATAGGGGGACCTTGGTGAGCGGACCTGGTG AGGGGACATGGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATG GGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTG GTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCT GGTGAGGGGACCTGGTGAGGGGACATAGGGGGGCCTTGGTGAGGGGACCT GGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGGGAACATGGGTGGGGA GCCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGACATGGGGGG GACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAG GGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	357	0.0028	486	c.-85 others(495): Show c.-858_-857insGGGACCTGGTGAGGGGACCTGGTGAGGGGACATGGG GGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGACCTTGGTG AGCGGACCTGGTGAGGGGACATGGGGGGGGACCTTGGTGAGGGGACCTGG TGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACAT GGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTT GGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGGCCTT GGTGAGGGGACCTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGGGA ACATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAG GGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGG GGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGA	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		563		chr11	TogoVar
OSGIN1_chr16_83948240_83971332	83951962	C C	CCCTCCCT others(479): Show CCCTCCCTCTTCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCC TGCCTCCCTCCCCCTCCCTCCTTCCCCTCCCTGCCTTCCTCCCCCTTTCC CTCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCTTCCCTCCCTCCTCC CTTCCTCCTTCCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCTTT CCTCCTCCCCTCCATCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCC TGCCTTCCACCCTCCTTCCCTCCCTCCTCCACTTCCTCCCTCCTTCCCTC CGTCCTCCCTTCCTCCCTCCCTCCCTACTTCCCTCCCTCCCTGCCTCCCT CCTTCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCCCTCCTTCCCTCC CTCCCTGCCTTCCTCCCTCCTTCCTTCCCTCCCTCCCTGCCTCCCTCCTT CCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0137 a0001c0003t0004g0137	1	61	0.0164	486	c.-14 others(497): Show c.-1441_-1440insCCTCCCTCTTCCCTTCCTCCTTCCCTCCCTCCCT CCTTCCCTCCCTCCCTGCCTCCCTCCCCCTCCCTCCTTCCCCTCCCTGCC TTCCTCCCCCTTTCCCTCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCC TTCCCTCCCTCCTCCCTTCCTCCTTCCCCTCCCTCCTCCCTTCCTCCTTC CCTCCCTCCTCCTTTCCTCCTCCCCTCCATCCCTTCCTCCTTCCCTCCCT CCCTCCTTCCCTCCCTGCCTTCCACCCTCCTTCCCTCCCTCCTCCACTTC CTCCCTCCTTCCCTCCGTCCTCCCTTCCTCCCTCCCTCCCTACTTCCCTC CCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCC TCCCTCCTTCCCTCCCTCCCTGCCTTCCTCCCTCCTTCCTTCCCTCCCTC CCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCC TG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		1277		chr16	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(479): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTC ACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0015 a0015	a0015c0010 a0015c0010	a0015c0010t0001 a0015c0010t0001	a0015c0010t0001g0030 a0015c0010t0001g0030	1	148	0.0068	486	c.292 others(501): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTAC TGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTC CCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTC CCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(479): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCC CCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTG TCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTAC TGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTC CCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0243 a0003c0002t0001g0243	1	148	0.0068	486	c.292 others(501): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCTCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCC TCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTG TCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
PATJ_chr1_61737480_62168915	62137609	G G	GACACAGA others(479): Show GACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAGG GGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCG GAGGGGGGGACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCC TCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAA TGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGGG GAAATGCCTCCGGAGGGGGAAACACAGAGTGAGGGGGGACAGAGGCCTGA GAGGGAAATGTCTCTGGAGGGGGAAACACAGAGTGAAGGGGGACAGAGGC CTGAGAGGGAAATGTCTCTGGAGGGGGAAACACAGAGTGAAGGGGGACAG AGGCCTGAGAGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGG ACAGAGGCCTGAGGGGGAAATGCCTCTGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18993.hp1 HG03195.hp2 NA18993.hp1	a0001 a0009 a0001 a0009	a0001c0059 a0009c0097 a0001c0059 a0009c0097	a0001c0059t0005 a0009c0097t0022 a0001c0059t0005 a0009c0097t0022	a0001c0059t0005g0098 a0009c0097t0022g0105 a0001c0059t0005g0098 a0009c0097t0022g0105	2	5	0.4000	486	c.527 others(505): Show c.5271+8702_5271+8703insGCCTCCGGAGGGGGGAACACAGAGTG AGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAGGGGGGGACACAG AGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAGGGGGGAAC ACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAGGGGG GAACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAG GGGGAAACACAGAGTGAGGGGGGACAGAGGCCTGAGAGGGAAATGTCTCT GGAGGGGGAAACACAGAGTGAAGGGGGACAGAGGCCTGAGAGGGAAATGT CTCTGGAGGGGGAAACACAGAGTGAAGGGGGACAGAGGCCTGAGAGGGAA ATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGG GGAAATGCCTCTGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTG AGGGGGAAAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	41/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62137609	G G	GACACAGA others(479): Show GACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAGG GGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCG GAGGGGGGGACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCC TCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAA TGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGGG GAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGA GAGGGAAATGTCTCTGGAGGGGGAAACACAGAGTGAAGGGGGACAGAGGC CTGAGAGGGAAATGTCTCTGGAGGGGGAAACACAGAGTGAAGGGGGACAG AGGCCTGAGAGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGG ACAGAGGCCTGAGGGGGAAATGCCTCTGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01934.hp2 HG02602.hp1 others(4): Show HG01081.hp2 HG01934.hp2 HG02602.hp1 HG03688.hp1 HG03710.hp1 HG03834.hp2 HG04204.hp2	a0001 a0003 a0006 others(3): Show a0001 a0003 a0006 a0008 a0009 a0040	a0001c0093 a0003c0055 a0006c0017 others(3): Show a0001c0093 a0003c0055 a0006c0017 a0008c0014 a0009c0098 a0040c0077	a0001c0093t0001 a0003c0055t0001 a0006c0017t0001 others(3): Show a0001c0093t0001 a0003c0055t0001 a0006c0017t0001 a0008c0014t0001 a0009c0098t0001 a0040c0077t0005	a0001c0093t0001g0104 a0003c0055t0001g0044 a0006c0017t0001g0029 others(4): Show a0001c0093t0001g0104 a0003c0055t0001g0044 a0006c0017t0001g0029 a0006c0017t0001g0112 a0008c0014t0001g0148 a0009c0098t0001g0013 a0040c0077t0005g0102	7	10	0.7000	486	c.527 others(505): Show c.5271+8702_5271+8703insGCCTCCGGAGGGGGGAACACAGAGTG AGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAGGGGGGGACACAG AGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAGGGGGGAAC ACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAGGGGG GAACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAG GGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGAGGGAAATGTCTCT GGAGGGGGAAACACAGAGTGAAGGGGGACAGAGGCCTGAGAGGGAAATGT CTCTGGAGGGGGAAACACAGAGTGAAGGGGGACAGAGGCCTGAGAGGGAA ATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGG GGAAATGCCTCTGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTG AGGGGGAAAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	41/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(479): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACACATATA ACATATATGTATTACATATATGTAATACACATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	122	0.0082	486	c.70 others(497): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACACATATAACATATATGTATTACATATATGTAATACACATATA AC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(479): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTAATACACATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	122	0.0082	486	c.70 others(497): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACACATATA AC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(479): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	122	0.0082	486	c.70 others(497): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA AC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PDE10A_chr6_165322289_165668241	165619414	G G	GTAGCCTA others(479): Show GTAGCCTAGTGTAGTGTAGGCTAGGGTAGGCTAGTGTAGGCTAGTGTAGT GTAGTAGTGTAGTCTAGTGTAGTGTAGTCTAGTGTAGTCTAGTATAGTGT AGTGTAGTCTAGTGTACTGTAGTGTAGTATAGTGTAGTCTAGTGTGGTGT GGTGTGGTGTAGTGTGGTGTGGTGTGGTGTAGTGTAGTCTAGTGTAGTCT AGTGTACTGTAGTGTAGTGCAGTGTAGTCTAGTGTAGTACAGTCTAGTGT AGTCTAGTATAGTGTAGTCCAGTGTAGTGTAGTATAGTCTAGTGTACTGT AGTGTAGTGTAGTGTAGTCTAGTGTAGTCTAGTGTACTGTAGTGTAGTGT AGTGTAGTGTAGTCTAGTGTAGTGTAGTCTAGTGTACTGTAGTGTAATGT AGTCTAGTCTAGTGTAGTCTAGTGTACTGTAGTGTAGTGCATTGGTCTAG TGCAGTGTAGTCTAGTGTAGTACAGTCTAGTGTAGTC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02257.hp2 HG02895.hp2 others(4): Show HG01167.hp1 HG02257.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG03453.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0026 a0002c0013 a0001c0001 a0001c0026 a0002c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0026t0004 a0002c0013t0031 a0002c0013t0035	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0002g0153 others(4): Show a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0002g0153 a0001c0001t0006g0040 a0001c0026t0004g0109 a0002c0013t0031g0203 a0002c0013t0035g0220	7	199	0.0352	486	c.865 others(505): Show c.865+42532_865+42533insGACTACACTAGACTGTACTACACTAG ACTACACTGCACTAGACCAATGCACTACACTACAGTACACTAGACTACAC TAGACTAGACTACATTACACTACAGTACACTAGACTACACTACACTAGAC TACACTACACTACACTACACTACAGTACACTAGACTACACTAGACTACAC TACACTACACTACAGTACACTAGACTATACTACACTACACTGGACTACAC TATACTAGACTACACTAGACTGTACTACACTAGACTACACTGCACTACAC TACAGTACACTAGACTACACTAGACTACACTACACCACACCACACCACAC TACACCACACCACACCACACTAGACTACACTATACTACACTACAGTACAC TAGACTACACTACACTATACTAGACTACACTAGACTACACTACACTAGAC TACACTACTACACTACACTAGCCTACACTAGCCTACCCTAGCCTACACTA CACTAGGCTA	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	1/21			chr6	TogoVar
PIGQ_chr16_564968_589109	571084	T T	TGTGTGTG others(479): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTG TGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTG TGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTG CCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTA GCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGT GTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGG CTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0228 a0002c0001t0001g0228	1	385	0.0026	486	c.-10 others(503): Show c.-10+1012_-10+1013insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGT GTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGT GTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGT GTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGT GTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCT GTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCC TGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTG TCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTA GCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGT GTGTGTGT	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar

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