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
ABCB11_chr2_168915781_169036324	168975324	T T	TATAAATA others(923): Show TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTCATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATATATAAATATA TAAATATTTATATATTTATAGATAAATATATATATATAAATATTTATATA TTTATAGATAAATATATAAATATATAAATATTTATATATTTATAGATAAA TATATAAATATATAAATATTTATAGATAAATATATAAATATATAAATATT TATATATTTATAGATAAATATATAAATATTTATATATTTATCTATAAATA TATAAATATTTATATATTTATAGATAAATATATAAATATTTATATATTTA TAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATA TAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATA GATAAATATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0283 a0001c0007t0001g0283	1	271	0.0037	930	c.130 others(949): Show c.1308+1252_1308+1253insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTT ATCTATAAATATATAAATATTTATATATTTATCTATAAATATATAAATAT TTATATATTTATAGATAAATATATAAATATTTATATATTTATCTATAAAT ATATAAATATTTATATATTTATATATTTATCTATAAATATTTATATATTT ATATATTTATCTATAAATATATAAATATTTATATATTTATATATTTATCT ATAAATATATAAATATTTATATATATATATTTATCTATAAATATATAAAT ATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATGAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975324	T T	TATAAATA others(923): Show TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATA TATAAATATATAAATATTTATATATTTATAGATAAATATATATATATAAA TATTTATATATTTATAGATAAATATATAAATATATAAATATTTATATATT TATAGATAAATATATAAATATATAAATATTTATAGATAAATATATAAATA TATAAATATTTATATATTTATAGATAAATATATAAATATTTATATATTTA TAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATA TAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATA GATAAATATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	271	0.0037	930	c.130 others(949): Show c.1308+1252_1308+1253insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTT ATCTATAAATATATAAATATTTATATATTTATCTATAAATATATAAATAT TTATATATTTATATATTTATCTATAAATATTTATATATTTATATATTTAT CTATAAATATATAAATATTTATATATTTATATATTTATCTATAAATATAT AAATATTTATATATATATATTTATCTATAAATATATAAATATTTATATAT TTATATATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ACAP3_chr1_1287391_1312930	1288475	T T	TCCCCCGT others(923): Show TCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCTGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCATTCCCTGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCTCCATTCCCTGTGTCTCTGCCCCGTCCCGTGTCT CTGCTCCATTCCCTGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCATTCCCTGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCATTCCCTGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCTCCATTCCCTGTGTCTCTGCCCCGTCCC GTGTCTCTGCTCCATTCCCTGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCATTCCCTGTGTCTCTGCCCCGTCCCGTGTCT CTGCTCCATTCCCTGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCATTCCCTGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CATTCCCTGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCATTCCCTGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCATTCC CTGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CATTCCCTGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCATTCCCTGTGT CCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGAGTCT CTGCTCCGTCCCCCGAGTCTCTGCTCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	262	0.0038	930	c.50 others(941): Show c.5088_*5089insGGACGGAGCAGAGACTCGGGGGACGGAGCAGAGA CTCGGGGGACGGAGCAGAGACTCGGGGGACGGAGCAGAGACACGGGGGAC GGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGGGCAGGGACA CAGGGAATGGAGCAGAGACACGGGACGGGGCAGAGACACAGGGAATGGAG CAGAGACACGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACAGGGA ATGGAGCAGAGACACGGGACGGGGCAGAGACACAGGGAATGGAGCAGAGA CACGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACAGGGAATGGAG CAGAGACACGGGACGGGGCAGAGACACAGGGAATGGAGCAGAGACACGGG ACGGAGCAGAGACACGGGACGGGGCAGAGACACAGGGAATGGAGCAGAGA CACGGGACGGGGCAGAGACACAGGGAATGGAGCAGAGACACGGGACGGAG CAGAGACACGGGACGGAGCAGAGACACAGGGAATGGAGCAGAGACACGGG ACGGGGCAGAGACACAGGGAATGGAGCAGAGACACGGGACGGGGCAGAGA CACGGGACGGAGCAGAGACACAGGGAATGGAGCAGAGACACGGGACGGAG CAGAGACACGGGACGGAGCAGAGACACAGGGAATGGAGCAGAGACACGGG ACGGAGCAGAGACACGGGACGGGGCAGAGACACAGGGAATGGAGCAGAGA CACGGGACGGGGCAGAGACACAGGGAATGGAGCAGAGACACGGGACGGGG CAGAGACACGGGACGGAGCAGAGACACAGGGAATGGAGCAGAGACACGGG ACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGACAGAGCAGAGA CACGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3915		chr1	TogoVar
ANO9_chr11_412938_447011	431162	G G	GGGGGTGG others(923): Show GGGGGTGGGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGT GGGGGCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCC GTGGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTGCGGGTATCT GGGGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCT GCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTGT GGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCCC GCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATCT GGGGGGGCGTCCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCT TCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAGGGG TGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGGCT CCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGGGTA TCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGGG CTTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCGGG GGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCGGGGATGTGGGGG CGTCTGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGCGGG TATCTGGGGGCGTCTGCAGGGGTGTGGGGGCTCCCGTGGGTATCTGGGGG GGCATCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCG GGGGTGTGGGGTCTCCCGTGGGTATCTGGGGGCGTCTGCGGGGGGTGTGG GGGCTCCCGCGGGTATCTGGGGGCTTCTGCA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0040 a0002c0002t0001g0040	1	241	0.0041	930	c.539 others(945): Show c.539+531_539+532insTGCAGAAGCCCCCAGATACCCGCGGGAGCC CCCACACCCCCCGCAGACGCCCCCAGATACCCACGGGAGACCCCACACCC CCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCAGATGC CCCCCCAGATACCCACGGGAGCCCCCACACCCCTGCAGACGCCCCCAGAT ACCCGCGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCAGAC GCCCCCACATCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACAC CCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGCAGAA GCCCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCGGAAGCCCCCAG ATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATACCCACGG GAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACGCCCCCAC ACCCCTGCAGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCGG AAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCAGGACGCCCCCC CAGATACCCACGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATACCCG CGGGAGCCCCTACACCCCCGCAGACGCCCCCAGATACCCGCGGACGCCCC CACACCCCCGCGGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCG CAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGCGGAAGCCCC CAGATACCCGCAGACGCCCCCACACCCCCGCGGAAGCCCCCAGATACCCA CGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATACCCACGGGAGCCCC CACACCCCTGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACCCACCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431309	T T	TGGGGGCT others(923): Show TGGGGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTC TGCGGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGT GTGGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCT CCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTA TCTGGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGG CTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAGG GGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGG CTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGGG TATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGG GGCTTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCG GGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCGGGGATGTGGG GGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGCG GGTATCTGGGGGCGTCTGCAGGGGTGTGGGGGGCTCCCGTGGGTATCTGG GGGGGCATCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCC GCGGGGGTGTGGGGTCTCCCGTGGGTATCTGGGGGCGTCTGCGGGGGTGT GGGGGCTCCCGCGGGTATCTGGGGGCTTCTGCAGGGGTGTGGGGGCGTCC GCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGGCTCCCGTGGGTATCT GGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGGGTATCTGGGGGCTTCC GCGGGGGTGTGGGGGCGTCCGCGGGTATCTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0049 a0004c0004t0001g0049	1	21	0.0476	930	c.539 others(945): Show c.539+384_539+385insCAGATACCCGCGGACGCCCCCACACCCCCG CGGAAGCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCC CAGATACCCACGGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCG CGGACGCCCCCACACCCCTGCAGAAGCCCCCAGATACCCGCGGGAGCCCC CACACCCCCGCAGACGCCCCCAGATACCCACGGGAGACCCCACACCCCCG CGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCAGATGCCCC CCCAGATACCCACGGGAGCCCCCCACACCCCTGCAGACGCCCCCAGATAC CCGCGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGACGC CCCCACATCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCC CCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGCAGAAGC CCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCGGAAGCCCCCAGAT ACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATACCCACGGGA GCCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACAC CCCTGCAGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCGGAA GCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCAGACGCCCCCCCAG ATACCCACGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGG GAGCCCCTACACCCCCGCAGACGCCCCCAGATACCCGCGGACGCCCCCCA CACCCCCGCGGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCCGC AGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGCGGAAGCCCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ATP9B_chr18_79064394_79383283	79336043	A A	ATGCCCTC others(923): Show ATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGC ACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCAT GCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCC AGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCCCC TCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCAC CAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGC CCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTG CACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAG CACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCCCCTC GCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCA GGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCC TCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCA CCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCA CCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGC CCGTCCCCAGCACCGCCGTGTGCACCCTCCG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	280	0.0036	930	c.202 others(947): Show c.2029-566_2029-565insCGCTCCCCTCGCCCGTCCCCAGCACCGC CGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGT CCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCT CCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTG GCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCC ATGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGT GCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCC AGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCCCC TCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCAC CAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGC CCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTG CACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAG CACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTC GCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCA GG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336105	A A	ATGCCCTC others(923): Show ATGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCACCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCACCATGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCAT GCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCC AGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCC TCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCAC CAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGC CCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTG CACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAG CACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCCTC GCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCACCA GGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGCCC TCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCA CCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCA CCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGC CCGTCCCCAGCACCGCCGTGTGCACCCTCTG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0004 a0001c0013t0004	a0001c0013t0004g0108 a0001c0013t0004g0111 a0001c0013t0004g0108 a0001c0013t0004g0111	2	211	0.0095	930	c.202 others(947): Show c.2029-504_2029-503insTGCTCCCCTCGCCCGTCCCCAGCACCGC CGTGTGCACCCACCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGT CCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCT CCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCACCATGCCCTCCCTG GCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCC ATGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGT GCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCC AGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCC TCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCAC CAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGC CCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTG CACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAG CACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTC GCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCACCA GG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCC others(923): Show TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGG CAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA19057.hp2 NA18951.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	224	0.0089	930	c.36 others(941): Show c.3604_*3605insGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGT GCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCC others(923): Show TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGG CAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	223	0.0045	930	c.36 others(941): Show c.3604_*3605insGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGT GCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCC others(923): Show TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGG CAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	223	0.0045	930	c.36 others(941): Show c.3604_*3605insGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGT GCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCC others(923): Show TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGC AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGG CCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	223	0.0045	930	c.36 others(941): Show c.3604_*3605insGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCC CCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCT CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAG CCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCT others(923): Show TGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGG CAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	223	0.0045	930	c.36 others(941): Show c.3604_*3605insGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGT GCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
C1orf159_chr1_1076823_1121089	1078565	A A	AGGCTGAG others(923): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCATCGGGGG AGGCTGAGGCTAGGGGGACTCCGTCGGGGGAGGCTGAGGCTATGGGGACT CCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGCTGAGGC TATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGCGGG AGGCTGAGGCTATGGGGACTCCGTGGCGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTGGCTGTGGC TATGGGGACTCCGTGCCGGGTGGCTGTGGCTATGGGGACTCCGTGCCGAG AGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACT CCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGGC TATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGACGCTGAGGCTATGGGGACT CCGTGGGGGGACGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGG AGGCTGAGTCTATGGGGACTCCGTGAGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	215	0.0047	930	c.43 others(941): Show c.4327_*4328insACCCCTCACGGAGTCCCCATAGACTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCGTCCCCCCACGGAGT CCCCATAGCCTCAGCGTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CGCACGGAGTCCCCATAGCCTCAGCCTCCCCCAACGGAGTCCCCATAGCC TCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCTCCCGGCACGGAGT CCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCTCTC GGCACGGAGTCCCCATAGCCACAGCCACCCGGCACGGAGTCCCCATAGCC ACAGCCACCCCGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGT CCCCATAGCCTCAGCCTCCCGCCACGGAGTCCCCATAGCCTCAGCCTCCC GCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCC TCAGCCACCCCTCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGT CCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC GGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCAACGGAGT CCCCATAGCCTCAGCCTCCCCCGACGGAGTCCCCCTAGCCTCAGCCTCCC CCGATGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCACCCCTCACGGAGT CCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3257		chr1	TogoVar
CCDC88C_chr14_91266323_91422820	91293537	G G	GGCCCACC others(923): Show GGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCT CGCCTGCCACAGCTCACCTTCCTGTCCCCTCGCCTGCCACGGCCCACCTT CCTGTCCCCTCACCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCAC AGCTCACCTTCCTGTCCCCTCGCCTGCCACGGCCCACCTTCCTGTCCCCT CACCTGCCACGGCCCACCTTCCTGTCCCCTCGCCTGCCACGGCCCACCTT CCTGTCCCCTCACCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCAC AGCTCACCTTCCTGTCCCCTCGCCTGCCACGGCCCACCTTCCTGTCCCCT CACCTGCCACGGCCCACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTT CCTGTCCCCTCACCTGCCACGGCCCACCTTCCTGTCCCCTCGCCTGCCAC GGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCTCACCTTCCTGTCCCCT CGCCTGCCACGGCCCACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTT CCTGTCCCCTCGCCTGCCACGGCCCACCTTCCTGTCCCCTCACCTGCCAC GGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCTCACCTTCCTGTCCCCT CGCCTGCCACGGCCCACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTT CCTGTCCCCTCGCCTGCCACAGCTCACCTTCCTGCCCCCTCGCCTGCCAC AGCTCACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTTCCTGTCCCCT CACCTGCCACGGCCCACCTTCCTGTCCCCTCGCCTGCCACGGCCCACCTT CCTGCCCCCTCGCCTGCCACAGCTCACCTTCCTGTCCCCTCGCCTGCCAC GGCCCACCTTCCTGTCCCCTCGCCTGCCACA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01169.hp2 HG00639.hp1 HG01169.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0050 a0001c0004t0001g0051 a0001c0004t0001g0050 a0001c0004t0001g0051	2	238	0.0084	930	c.411 others(947): Show c.4112+635_4112+636insTGTGGCAGGCGAGGGGACAGGAAGGTGG GCCGTGGCAGGCGAGGGGACAGGAAGGTGAGCTGTGGCAGGCGAGGGGGC AGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGGTGGGCCGTGGCAG GTGAGGGGACAGGAAGGTGGGCCGTGGCAGGTGAGGGGACAGGAAGGTGA GCTGTGGCAGGCGAGGGGGCAGGAAGGTGAGCTGTGGCAGGCGAGGGGAC AGGAAGGTGGGCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCCGTGGCAG GCGAGGGGACAGGAAGGTGAGCTGTGGCAGGCGAGGGGGCAGGAAGGTGG GCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCCGTGGCAGGCGAGGGGAC AGGAAGGTGGGCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCCGTGGCAG GCGAGGGGACAGGAAGGTGAGCTGTGGCAGGCGAGGGGGCAGGAAGGTGG GCCGTGGCAGGCGAGGGGACAGGAAGGTGGGCCGTGGCAGGTGAGGGGAC AGGAAGGTGGGCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCCGTGGCAG GTGAGGGGACAGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGGTGA GCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGTGAGGGGAC AGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGGTGGGCCGTGGCAG GTGAGGGGACAGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGGTGA GCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGTGAGGGGAC AGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGGTGAGCTGTGGCAG GCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGG GC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CFAP61_chr20_20047532_20365698	20320483	A A	ATATTATA others(923): Show ATATTATATATATTATATATGTAATATATATTATATATATTATATATGTA ATATATATTATATATATTATATATATTATATATGCAATATATATTATATA TATTATATATGCAATATATATTATATATTACATATGTAATATATATTATA TATTACATATGTAATATATATTATATATTACATATGTAATATATATATTA TATATTACATATGTAATATATATATTATATATTACATATGTAATATATAT ATTATATATTACATATGTAATATATATTACATATGTAATATATATTATAT ATGTAATATATATTACATATATTACATATGTAATATATATTATATATGTA ATATATAATATATATTATATATGTAATATATAATATATATTATATATGTA ATATATATTACATATGTAATATATATTATATATGTAATATATAATATATA TTATATATGTAATATATATTATATATGTAATATATATTATATATGTAATA TATAATATATATTATATATGTAATATATATTATATATGTAATATATATTA TATATGTAATATATTACATATATAATATATATTACATATATAATATATAT TATATATGTAATATATATTATATATGTAATATATAATATATATTATATAT GTAATATATAATATATATTATATATGTAATATATAATATATATTATATAT GTAATATATAATATATATTATATATGTAATATATATTATATATATTATAT ATGTAATATATATTATATATATTATATATGTAATATATATTATATATTAT ATATGTAATATATATTATATATGTAATATATGTAATATATATTATATATG TAATATATGTAATATATATTATATATGTAATATATGTAATATATATTATA TATGTAATATATGTAATATATATTATATATG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0234 a0002c0002t0001g0234	1	174	0.0057	930	c.342 others(951): Show c.3423-21346_3423-21345insTTATATATATTATATATGTAATAT ATATTATATATATTATATATGTAATATATATTATATATATTATATATATT ATATATGCAATATATATTATATATATTATATATGCAATATATATTATATA TTACATATGTAATATATATTATATATTACATATGTAATATATATTATATA TTACATATGTAATATATATATTATATATTACATATGTAATATATATATTA TATATTACATATGTAATATATATATTATATATTACATATGTAATATATAT TACATATGTAATATATATTATATATGTAATATATATTACATATATTACAT ATGTAATATATATTATATATGTAATATATAATATATATTATATATGTAAT ATATAATATATATTATATATGTAATATATATTACATATGTAATATATATT ATATATGTAATATATAATATATATTATATATGTAATATATATTATATATG TAATATATATTATATATGTAATATATAATATATATTATATATGTAATATA TATTATATATGTAATATATATTATATATGTAATATATTACATATATAATA TATATTACATATATAATATATATTATATATGTAATATATATTATATATGT AATATATAATATATATTATATATGTAATATATAATATATATTATATATGT AATATATAATATATATTATATATGTAATATATAATATATATTATATATGT AATATATATTATATATATTATATATGTAATATATATTATATATATTATAT ATGTAATATATATTATATATTATATATGTAATATATATTATATATGTAAT ATATGTAATATATATTATATATGTAATATATGTAATATATATTATATATG TAATATATGTAATATATATTATATATGTAATATATGTAATATATATTATA TATGTA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CLPTM1L_chr5_1312752_1350099	1327944	A A	ACAGACAC others(923): Show ACAGACACATTCCATCCAGTTCCTCCTCTACAGACACATTCCATCCAGCT CCTCCTCTGCAGACACATTCCATCCAGCTCCTCCTCTACAGACACATTCC ATCCAGCTCCTCCTCTGCAGACACATTCCATCCAGCTCCTCCTCTGCAGA CACATTCCATCCAGCTCCTCCTCTGCAGACACATTCCATCCAGCTCCTCC TCTACAGGATACATTCCATCCAGCTCCTCCTCTACAGGATACATTTCATC CAGCTACTCCTCTACGGACACATTTCATCCAGCTCCTCCTCTACAGGGAC ATTTCTTCCAGCTCCTCCTCTACAGACACATTCCATCCAGCTCCTCCTCT ACAGACACATTTCATCCAGCTCCTCCTCTGCAGACACATTCCATCCAGCT CCTCCTCTACAGACACATTTCATCCAGCTCCTCCTCTGCAGACACATTTC ATCCAGCTCCTCCTCTACGGACACATTTCATCCAGCTCCTCCTCTACAGA CAGATTTCATCCAGCTCCTCCTCTACAGACACACTTCATCCAGCTCCTCC TCTACAGACAGTTTTCTTCCAGCTCCTTGTCTACAGACACATTTCATCCA GCTCCTCCTCTATAGACACATTCCATCCAGCTCCTCCTCTACAGACACAT TTCATCCAGCTCCTCCTCTACAGGGACACTCCATCCAGATCCTCCTCTAC AGACACATTTCATCCAGCTCCTGCTCTACAGACACATTGCATCCAGCTCC TCCTCTACAGACACATTTCATCCAGCTCCTCCTCTACAGACACATTCCAT CCAGCTCCTCCTCTACAGACACATTTCATCCAGCTCCTCCTCTACAGGGA CATTCCATCCAGCTCCTCCTCTACAGACACATTTCATACAGCTCCTCCTC TACAGAGACATTGCATCCAGCTCCTCCTCTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01891.hp2 HG01496.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0047 a0001c0001t0001g0048	2	368	0.0054	930	c.108 others(949): Show c.1081-2129_1081-2128insCAGAGGAGGAGCTGGATGCAATGTCT CTGTAGAGGAGGAGCTGTATGAAATGTGTCTGTAGAGGAGGAGCTGGATG GAATGTCCCTGTAGAGGAGGAGCTGGATGAAATGTGTCTGTAGAGGAGGA GCTGGATGGAATGTGTCTGTAGAGGAGGAGCTGGATGAAATGTGTCTGTA GAGGAGGAGCTGGATGCAATGTGTCTGTAGAGCAGGAGCTGGATGAAATG TGTCTGTAGAGGAGGATCTGGATGGAGTGTCCCTGTAGAGGAGGAGCTGG ATGAAATGTGTCTGTAGAGGAGGAGCTGGATGGAATGTGTCTATAGAGGA GGAGCTGGATGAAATGTGTCTGTAGACAAGGAGCTGGAAGAAAACTGTCT GTAGAGGAGGAGCTGGATGAAGTGTGTCTGTAGAGGAGGAGCTGGATGAA ATCTGTCTGTAGAGGAGGAGCTGGATGAAATGTGTCCGTAGAGGAGGAGC TGGATGAAATGTGTCTGCAGAGGAGGAGCTGGATGAAATGTGTCTGTAGA GGAGGAGCTGGATGGAATGTGTCTGCAGAGGAGGAGCTGGATGAAATGTG TCTGTAGAGGAGGAGCTGGATGGAATGTGTCTGTAGAGGAGGAGCTGGAA GAAATGTCCCTGTAGAGGAGGAGCTGGATGAAATGTGTCCGTAGAGGAGT AGCTGGATGAAATGTATCCTGTAGAGGAGGAGCTGGATGGAATGTATCCT GTAGAGGAGGAGCTGGATGGAATGTGTCTGCAGAGGAGGAGCTGGATGGA ATGTGTCTGCAGAGGAGGAGCTGGATGGAATGTGTCTGCAGAGGAGGAGC TGGATGGAATGTGTCTGTAGAGGAGGAGCTGGATGGAATGTGTCTGCAGA GGAGGAGCTGGATGGAATGTGTCTGTAGAGGAGGAACTGGATGGAATGTG TCTG	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178585669	C C	CACAGCCC others(923): Show CACAGCCCTGGTTGGCGCTGGGGTAATGCCCTACAGCCCTGGTTGGCGCT GGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCC CTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAA CGCTCCACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATG GCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAACACTCCA CAGCCCTGGATGGCGCTGGGGTAACGCCCCACAGCCCTGGATGGCGCTGG GGTAACGCCCCACAGCCCTGGATGGCGCTGGGGTAACGCCCCACAGCCCT GGATGGCGCTGGGGTAACGCCCCACAGCCCTGGATGGCGCTGGGGTAACG CCCCACAGCCCTGGATGGCGCTGGGGTAACGCCCCACAGCCCTGGATGGC GCTGGGGTAACGCCCCACAGCCCTGGATGGCGCTGGGGTAACGCCCCACA GCCCTGGATGGCGCTGGGGTAACGCCCCACAGCCCTGGATGGCGCTGGGG TAACGCCCCACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGG ATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCC CTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGC TGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGC CCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTA ATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGAT GGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCT ACAGCCCTGGATGGCGCTGGGGTAATGCCCT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0140 a0002c0003t0002g0140	1	143	0.0070	930	c.294 others(947): Show c.294+4234_294+4235insAGGGCATTACCCCAGCGCCATCCAGGGC TGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGC GCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGG CATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCC AGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACC CCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTG TAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGC CATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGGGCG TTACCCCAGCGCCATCCAGGGCTGTGGGGCGTTACCCCAGCGCCATCCAG GGCTGTGGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGGGCGTTACCCC AGCGCCATCCAGGGCTGTGGGGCGTTACCCCAGCGCCATCCAGGGCTGTG GGGCGTTACCCCAGCGCCATCCAGGGCTGTGGGGCGTTACCCCAGCGCCA TCCAGGGCTGTGGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGGGCGTT ACCCCAGCGCCATCCAGGGCTGTGGGGCGTTACCCCAGCGCCATCCAGGG CTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAG CGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTGGA GCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATC CAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTAC CCCAGCGCCAACCAGGGCTGTAGGGCATTACCCCAGCGCCAACCAGGGCT GT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178585669	C C	CACAGCCC others(923): Show CACAGCCCTGGTTGGCGCTGGGGTAATGCCCTACAGCCCTGGTTGGCGCT GGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCC CTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAA CGCTCCACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATG GCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTA CAGCCCTGGATGGCGCTGGGGTAACGCTCCACAGCCCTGGATGGCGCTGG GGTAACGCCCCACAGCCCTGGATGGCGCTGGGGTAACGCCCCACAGCCCT GGATGGCGCTGGGGTAACGCCCCACAGCCCTGGATGGCGCTGGGGTAACG CCCCACAGCCCTGGATGGCGCTGGGGTAACGCCCCACAGCCCTGGATGGC GCTGGGGTAACGCCCCACAGCCCTGGATGGCGCTGGGGTAACGCCCCACA GCCCTGGATGGCGCTGGGGTAACGCCCCACAGCCCTGGATGGCGCTGGGG TAACGCCCCACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGG ATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCC CTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGC TGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGC CCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTA ATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGAT GGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCT ACAGCCCTGGATGGCGCTGGGGTAATGCCCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0225 a0002c0002t0009g0225	1	143	0.0070	930	c.294 others(947): Show c.294+4234_294+4235insAGGGCATTACCCCAGCGCCATCCAGGGC TGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGC GCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGG CATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCC AGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACC CCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTG TAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGC CATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGGGCG TTACCCCAGCGCCATCCAGGGCTGTGGGGCGTTACCCCAGCGCCATCCAG GGCTGTGGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGGGCGTTACCCC AGCGCCATCCAGGGCTGTGGGGCGTTACCCCAGCGCCATCCAGGGCTGTG GGGCGTTACCCCAGCGCCATCCAGGGCTGTGGGGCGTTACCCCAGCGCCA TCCAGGGCTGTGGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGGGCGTT ACCCCAGCGCCATCCAGGGCTGTGGAGCGTTACCCCAGCGCCATCCAGGG CTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAG CGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGA GCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATC CAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATTAC CCCAGCGCCAACCAGGGCTGTAGGGCATTACCCCAGCGCCAACCAGGGCT GT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178585669	C C	CACAGCCC others(923): Show CACAGCCCTGGTTGGCGCTGGGGTAATGCCCTACAGCCCTGGTTGGCGCT GGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCC CTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGTGCTGGGGTAA CGCTCCACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATG GCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTA CAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGATGGCGCTGG GGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCCACAGCCCT GGATGGCGCTGGGGTAACGCCCCACAGCCCTGGATGGCGCTGGGGTAACG CCCCACAGCCCTGGATGGCGCTGGGGTAACGCCCCACAGCCCTGGATGGC GCTGGGGTAACGCCCCACAGCCCTGGATGGCGCTGGGGTAACGCCCCACA GCCCTGGATGGCGCTGGGGTAACGCCCCACAGCCCTGGATGGCGCTGGGG TAACGCCCCACAGCCCTGGATGGCGCTGGGGTAACGCCCCACAGCCCTGG ATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCC CTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGC TGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGC CCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTA ATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGAT GGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCT ACAGCCCTGGATGGCGCTGGGGTAATGCCCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0130 a0004c0006t0003g0130	1	143	0.0070	930	c.294 others(947): Show c.294+4234_294+4235insAGGGCATTACCCCAGCGCCATCCAGGGC TGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGC GCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGG CATTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCC AGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACC CCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTG TAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGC CATCCAGGGCTGTGGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGGGCG TTACCCCAGCGCCATCCAGGGCTGTGGGGCGTTACCCCAGCGCCATCCAG GGCTGTGGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGGGCGTTACCCC AGCGCCATCCAGGGCTGTGGGGCGTTACCCCAGCGCCATCCAGGGCTGTG GGGCGTTACCCCAGCGCCATCCAGGGCTGTGGGGCGTTACCCCAGCGCCA TCCAGGGCTGTGGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATT ACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGG CTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAG CGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTGGA GCGTTACCCCAGCACCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATC CAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATTAC CCCAGCGCCAACCAGGGCTGTAGGGCATTACCCCAGCGCCAACCAGGGCT GT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178585669	C C	CACGTCCC others(923): Show CACGTCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCT GGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCC CTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGTTGGCGCTGGGGTAA CACTCCACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATG GCGCTGGGGTAACACTCCACAGCCCTGGTTGGCGCTGGGGTAACGCCCTA CAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGG GGTAAAGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCT GGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACG CCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGC GCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACA GCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGG TAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGG ATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCC CTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGC TGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGC CCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTA ACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGAT GGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCT ACAGCCCTGGATGGCGCTGGGGTAACGCCCT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG06807.hp2 HG02647.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0002 a0001c0001t0003 a0002c0003t0002	a0001c0001t0003g0210 a0002c0003t0002g0211 a0001c0001t0003g0210 a0002c0003t0002g0211	2	144	0.0139	930	c.294 others(947): Show c.294+4234_294+4235insAGGGCGTTACCCCAGCGCCATCCAGGGC TGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGC GCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGG CGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCC AGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACC CCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTG TAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGC CATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCG TTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAG GGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCC AGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTA GGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCA TCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCTTT ACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGG CTGTAGGGCGTTACCCCAGCGCCAACCAGGGCTGTGGAGTGTTACCCCAG CGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGA GTGTTACCCCAGCGCCAACCAGGGCTGTAGGGCGTTACCCCAGCGCCATC CAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTAC CCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGAC GT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(923): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTGATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGG GCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTG CAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAA TATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGC GGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTA TAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGG GGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTG CAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAA TATGGGGGCGGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCC AGAGTATAGTTTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATA GATAATATGGAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTG GGGTAGGGGAGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGAG TACTTTATAGATAATATGAGGGGCGGGGTAGGGGGTGTAGTTTATAGATA ATATGGGGGCGGGGCAGGGGGTGCAATTTATAGATAATATGAGGGTGGGG CAGGGGTGCAGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTT TATAGATATATGGGGGTGGGGTAGGGGGTGT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0265 a0001c0005t0003g0265	1	13	0.0769	930	c.109 others(949): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTGATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAG ATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGC GGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCA GTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATA TGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGG GGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATA GATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGC GGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCA GTTTATAGATAATATGGGGGCGGGGCGGGGGTGTAGCTTATAGATAATAT GGGGGCAGGGCCAGAGTATAGTTTATAGATAATATGGAGGCGGGGCGGGG GTACAGTTTATAGATAATATGGAGGCGGGGCGGGGGTGTAGTTTATAGGT AATATGGAGGTGGGGTAGGGGAGTGCAGTGTATAGATAATATGGGGGGCG GGGCAGGGGGAGTACTTTATAGATAATATGAGGGGCGGGGTAGGGGGTGT AGTTTATAGATAATATGGGGGCGGGGCAGGGGGTGCAATTTATAGATAAT ATGAGGGTGGGGCAGGGGTGCAGTTTGTAGATAATATGGGGGGCAGGGCA GGGGGTGCAGTTTATAGATATATGGGGGTGGGGTAGGGGGTGTAGTTTAT AGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(923): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGGAGGGAGGGA GGAATGGAGGAATGGAGGGATGGGGAGGGGGGAGGGGAGTGGGAGGGGGG AGGGGAGGGGAGGGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGG AGGGGGGAGGGGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGAGGGGGAGG GGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGG AGGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGG GGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGGAGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGGAGGGGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGGGAGGGGGGAGG GGGAGGGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAAGGGGGAGGGGAGGGGG GGAGGGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAAGGGGAGGGGGA GGGGGAGGGGAAGGGGAAGGGGAAGGGGGAGGGGGAGGGGAAGGGGAAGG GGAGGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGGAGGGGAAGGGGAA GGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGGAGACA GAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0012 a0003c0003t0012	a0003c0003t0012g0165 a0003c0003t0012g0165	1	97	0.0103	930	c.923 others(949): Show c.923-33074_923-33073insCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCTGTCTCCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCC TCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCC CCTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTTCCCCTTCCCCTTCCCCT CCCCCTCCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCC CCTCCCCCCCTCCCCTCCCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCC CTCCCCCTCCCCCCTCCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCCCTCCCCCCCTCCCCCTCCCCCTCCCCCCTCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCC CCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCCTCCCCCTCCCCTCCTCCCCCTCCCCCTCCCCCTCCCCCCCTCC CCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCCTCCCCT CCCCTCCCCCCTCCCACTCCCCTCCCCCCTCCCCATCCCTCCATTCCTCC ATTCCTCCCTCCCTCCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCC TCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DEAF1_chr11_639233_700222	664411	C C	CCAGCTAT others(923): Show CCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACT CTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCA CACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAG GACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACAC CGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTC AGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCT GAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACA CTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGA CAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCG AGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAG CTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGA GTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACT CGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACA GGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAG AGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCT ATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGT CCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCG GTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGG GCGTCACACTCGGTCACTCTGAGTCCTGGCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	221	0.0045	930	c.150 others(951): Show c.1503+10124_1503+10125insAGCCAGGACTCAGAGTGACCGAGT GTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCA GAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTG AGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGG TGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCC TCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGT GACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGA GTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAG CCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTG TGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTC CTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGA CGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGT GACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCC AGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTG AATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCT CCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACG CCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGA CCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAG GACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAA TAGCTG	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11			chr11	TogoVar
DGKB_chr7_14140049_14907751	14471369	A A	ACATACAT others(923): Show ACATACATATATGTGTGTATATATGTGTATACATACATATATGTGTGTAT ATATGTGTATACATACATATATGTGTGTATATATGTGTATATATACATAT ATGTGTGTATATATACATATATGTGTGTATATGTGTGTATACATACATAT ATGTGTGTATATGCGTGTATATATGTGTATACACACATATGCGCGTGTAT ATATGTGTATACACACATATGCGCGTGTATATATGTGTATACACACATAT GCGCGTGTATATATGTGTATACACACATATGCGCGTGTATATATGTGTAT ACACACATATGCGCGTGTATATGTGTGTATACACACATATGCGCGTGTAT ATGTGTGTATACACACATATGCGCGTGTATATGTGTGTATACACACATAT GCGCGTGTATATGTGTGTATACACACATATGCGCGTGTATATGTGTGTAT ACACACATATGCGCGTGTATATGTGTGTATACACACATATGCGCGTGTAT ATGTGTGTATACACACATATGCGCGTGTATATGTGTGTATACACACATAT GCGCGTGTATATGTGTGTATACACACATATGCGCGTGTATATGTGTGTAT ACACACATATGCGCGTGTATATGTGTGTATACACATATGTGTGTATACAC ATATGCGTGTGTATATGTGTGTATATACATATGCGTGTGTATATGTGTGT ATATACATATGCGTGTGTATATGTGTGTATATACATATGCGTGTGTATAT GTGTGTATATACATATGCGTGTGTATATGTGTGTATATACATATATATGA GTGTATATGTGTGTATATACATATATATGAGTGTATATATGTGTATATAT ACATATATATGCGTGTATATATACGTATATATGCATGTATATATGTGTAT ACATACATATATGCATGTATATATGTGTATT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0137 a0001c0003t0001g0137	1	78	0.0128	930	c.183 others(949): Show c.1835+6791_1835+6792insAATACACATATATACATGCATATATG TATGTATACACATATATACATGCATATATACGTATATATACACGCATATA TATGTATATATACACATATATACACTCATATATATGTATATACACACATA TACACTCATATATATGTATATACACACATATACACACGCATATGTATATA CACACATATACACACGCATATGTATATACACACATATACACACGCATATG TATATACACACATATACACACGCATATGTATATACACACATATACACACG CATATGTGTATACACACATATGTGTATACACACATATACACGCGCATATG TGTGTATACACACATATACACGCGCATATGTGTGTATACACACATATACA CGCGCATATGTGTGTATACACACATATACACGCGCATATGTGTGTATACA CACATATACACGCGCATATGTGTGTATACACACATATACACGCGCATATG TGTGTATACACACATATACACGCGCATATGTGTGTATACACACATATACA CGCGCATATGTGTGTATACACACATATACACGCGCATATGTGTGTATACA CACATATACACGCGCATATGTGTGTATACACACATATACACGCGCATATG TGTGTATACACATATATACACGCGCATATGTGTGTATACACATATATACA CGCGCATATGTGTGTATACACATATATACACGCGCATATGTGTGTATACA CATATATACACGCGCATATGTGTGTATACACATATATACACGCATATACA CACATATATGTATGTATACACACATATACACACATATATGTATATATACA CACATATATGTATATATACACATATATACACACATATATGTATGTATACA CATATATACACACATATATGTATGTATACACATATATACACACATATATG TATG	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
DIDO1_chr20_62872743_62931505	62875248	C C	CCACCCGC others(923): Show CCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCC ACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCAC CCGCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCC CCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTC ACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCAC CCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCC CCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCC ACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCAC CCGCACCCCCACCCCCACCCCCACCCTCACCCCCACCCGCACCCCCACCC CCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCC ACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCAC CCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCC GCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCC ACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCGCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCT CCACCCCCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCC ACCCGCACCCCCACCCCCACCCTCACCCGCACCCCCACCCCCACCCGCAC CCCCACCCCCACCCTCACCCCCACCCTCACCCGCACCCGCACCCCCACCC TCACCCCCACCCTCACCCCCACCCTCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	253	0.0040	930	c.39 others(941): Show c.3984_*3985insCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGAGGG TGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGAGG TGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTG CGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTG GGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGG TGGGGGTGCGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGG GGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGG TGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAG GGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGG TGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTG GGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2494		chr20	TogoVar
DIP2C_chr10_269201_694668	425029	T T	TGATACAG others(923): Show TGATACAGCATAACCAGCAGTGACTAATGACATGGATGATACAGCATGAC CAGCAGTGACTAATATGACACGGATGATACAGCATGACCAGCGTTGACTA ATATGACACAGATGATATAGCATGACCAGCGGTGACTAATATGAAATGGA TACAGCATGACCAGCGGTGACTAATATGACATGGATGATACAGCATGACC AGCAGTGACTAATATGACACAGATGATACAGCATGACCAGCAGTGACTAA TATTACACAGATGATACAGCATGACCAGCGGTGACTAATATGACAGGGAT GATACAGCATGACCAGCGGTGACTAATATGACACAGATGATACAGCATGA CCAGCAGTGACTAATATGAAATGGATACAGCATGACCAGCGGTGACTAAT ATGACATGGATAATACAGCATGACCAGCAGTGACTAATATGAAATGGATA CAACATGACCAGCGGTGACTAATATGACATGGATGATACAGCATGACCAG CGGTGACTAATATGACATGGATGATACAGCATGACCAGCAGTGACTAATA TGAAATGGATACAGCATGACCAGCAGTAACTAATATGACACAGATGATAC AACATGACCAGCAGTGACTAATATGACACAGATGATACAGTATGAGCAGC GGTGACTAATATGAAATGGATGATACAGCATGACCAGCAGTGACTAATAT GACACGGATGATACAGCATGACCAGCGGTGACTAATATGAAATGGATACA GCATGACCAGCAGTGACTAATATGACACGGATTATACAGCATGACCAGCG GTGACTAATATGACACGGATTATACAGCATGACCAGCGGTGACTAATATG ACACGGATGATACAGCATGACCAGTGGTGACTAATATGACACGGATGATA CAGCATGACCAGCGGTGACTAATATGAAACG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0009 a0001c0016t0009	a0001c0016t0009g0073 a0001c0016t0009g0073	1	88	0.0114	930	c.395 others(947): Show c.395-1997_395-1996insCGTTTCATATTAGTCACCGCTGGTCATG CTGTATCATCCGTGTCATATTAGTCACCACTGGTCATGCTGTATCATCCG TGTCATATTAGTCACCGCTGGTCATGCTGTATAATCCGTGTCATATTAGT CACCGCTGGTCATGCTGTATAATCCGTGTCATATTAGTCACTGCTGGTCA TGCTGTATCCATTTCATATTAGTCACCGCTGGTCATGCTGTATCATCCGT GTCATATTAGTCACTGCTGGTCATGCTGTATCATCCATTTCATATTAGTC ACCGCTGCTCATACTGTATCATCTGTGTCATATTAGTCACTGCTGGTCAT GTTGTATCATCTGTGTCATATTAGTTACTGCTGGTCATGCTGTATCCATT TCATATTAGTCACTGCTGGTCATGCTGTATCATCCATGTCATATTAGTCA CCGCTGGTCATGCTGTATCATCCATGTCATATTAGTCACCGCTGGTCATG TTGTATCCATTTCATATTAGTCACTGCTGGTCATGCTGTATTATCCATGT CATATTAGTCACCGCTGGTCATGCTGTATCCATTTCATATTAGTCACTGC TGGTCATGCTGTATCATCTGTGTCATATTAGTCACCGCTGGTCATGCTGT ATCATCCCTGTCATATTAGTCACCGCTGGTCATGCTGTATCATCTGTGTA ATATTAGTCACTGCTGGTCATGCTGTATCATCTGTGTCATATTAGTCACT GCTGGTCATGCTGTATCATCCATGTCATATTAGTCACCGCTGGTCATGCT GTATCCATTTCATATTAGTCACCGCTGGTCATGCTATATCATCTGTGTCA TATTAGTCAACGCTGGTCATGCTGTATCATCCGTGTCATATTAGTCACTG CTGGTCATGCTGTATCATCCATGTCATTAGTCACTGCTGGTTATGCTGTA TC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
FCMR_chr1_206898317_206926941	206924611	T T	TGAGTGTG others(923): Show TGAGTGTGTGAGTGTGTGGTGTGTAGTTATGAGTGTGTGTGTTCTCTGTC TAGTGTGTGTGTGGTTATGTGTGTGTGATTGTGTGTGTGGTGTGTGTCCA TGAGTGTGTGTGTGCTCTGTAGAGTGTGTAAGTGTGTGGCGTGTGGCTAT GAGTGTGTGTGTGCACTGTGGAGTGTGTGTGTGGTGTGTGGCTATGAGTG TGTGTGTGCTCTGTGGAGTGTGTGTGTGGTGTGTGGCTATGAGTGTGTGT GTGTGCTCTGTGGAGTGTGTGTGTGGTGTGTGGCTATGAGTGTGTGTGCT CTGTCTAGTGTGTGTGTGGTGTGTGGTTATGTGTGTGTGATTGTGTGTGT GATGTGTGTCCATGAGTGTGTGTGTGCTCCGTGGAGTGTGTGAATGTGTG GTGTGTGGCTATGAGTGTGTGTGAATGTGTGGTGTGTGGCTATGAGTGTG TGTGAATGTGTGGTGTGTGGCTATGTGTGTGTGCTATGTGTTATGTGTGT GTGCTATGTGTTGTGTGTGGTATGTAGTTATGAGTGTGTGTCACTGCGTG GTGTGTGGCTATGAGTGTGTGTGCGCACTCTATGCTCTGTCTAGTGTGTG TGTGGTTGAGTGTGTGAGTGTGTGGTGTGTAGTTATGAGTGTGTGTGTTC TCTGTCTAGTGTGTGTGGTGTGTGGTTATGTGTGTGTGATTGTGTGTGTG GTGTGTGTCCATGAGTGTGTGTGCTCTGTAGAGTGTGTGAGTGTGTGGCG TGTGGCTATGAGTGTGTGTGTGCACTGTGGAGTGTGTGTGTGGTGTGTGG CTATGAGTGTGTGTGTGCTCTGTGGAGTGTGTGTGTGGTGTGTGGCTACG AGTGTGTGTGTGCTCTGTCTAGTGTGTGTGGTGTGTGGTTATGTGTGTGG TGTGCATCCATGAGTGTGTGTATGCTCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	16	0.0625	930	c.-27 others(941): Show c.-2758_-2757insCACAGAGCATACACACACTCATGGATGCACACCA CACACATAACCACACACCACACACACTAGACAGAGCACACACACACTCGT AGCCACACACCACACACACACTCCACAGAGCACACACACACTCATAGCCA CACACCACACACACACTCCACAGTGCACACACACACTCATAGCCACACGC CACACACTCACACACTCTACAGAGCACACACACTCATGGACACACACCAC ACACACAATCACACACACATAACCACACACCACACACACTAGACAGAGAA CACACACACTCATAACTACACACCACACACTCACACACTCAACCACACAC ACACTAGACAGAGCATAGAGTGCGCACACACACTCATAGCCACACACCAC GCAGTGACACACACTCATAACTACATACCACACACAACACATAGCACACA CACATAACACATAGCACACACACATAGCCACACACCACACATTCACACAC ACTCATAGCCACACACCACACATTCACACACACTCATAGCCACACACCAC ACATTCACACACTCCACGGAGCACACACACACTCATGGACACACATCACA CACACAATCACACACACATAACCACACACCACACACACACTAGACAGAGC ACACACACTCATAGCCACACACCACACACACACTCCACAGAGCACACACA CACACTCATAGCCACACACCACACACACACTCCACAGAGCACACACACAC TCATAGCCACACACCACACACACACTCCACAGTGCACACACACACTCATA GCCACACGCCACACACTTACACACTCTACAGAGCACACACACACTCATGG ACACACACCACACACACAATCACACACACATAACCACACACACACTAGAC AGAGAACACACACACTCATAACTACACACCACACACTCACACACTC	FCMR	ENSG00000162894.12	transcript	ENST00000367091.8	protein_coding		2671		chr1	TogoVar
GABRB3_chr15_26538552_26778066	26716814	C C	CACAGCCC others(923): Show CACAGCCCAGCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGA CCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCT GAGGACCTCCACCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCA CAGCCCAGCTCTGAGGACCTCCACCCAATGACAGCCCAGCTCTGAGGACC TCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCA GCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCC AACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGA GGACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACA GCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTC CACCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGC TCTGAGGACCTCCACCCAATGACAGCCCAGCTCTGAGGACCTCCACCCAA CCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGG ACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGC CCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCA CCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTC TGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACC ACAGCCCAGCTCTGAGGACCTCCACCAAATG	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	130	0.0077	930	c.240 others(949): Show c.240+55587_240+55588insCATTTGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTGGGTGGAGGTCC TCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGC TGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGA GGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTG TGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGAGGTCCTC AGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGG GTGGAGGTCCTCAGAGCTGGGCTGTCATTGGGTGGAGGTCCTCAGAGCTG GGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGGTTGGGTGGAGG TCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTG GTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGAGGTCCTCAG AGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGT GGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGAGGTCCTCAGAGCTGGG CTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26716814	C C	CACAGCCC others(923): Show CACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGA CCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCT GAGGACCTCCACCCAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCA CAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACC TCCACCCAACCACAGCCTAGCTCTGAGGACCTCCACCCAACCACAGCCCA GCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCA AATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGA GGACCTCCACCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACA GCCCAGCTCTGAGGACCTCCACCCAATGACAGCCCAGCTCTGAGGACCTC CACCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGC TCTGAGGACCTCCACCCAACCACAGCCTAGCTCTGAGGACCTCCACCCAA CCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGG ACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGC CCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCA CCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTC TGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACC ACAGCCCAGCTCTGAGGACCTCCACCAAATG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	130	0.0077	930	c.240 others(949): Show c.240+55587_240+55588insCATTTGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTAGGCTGTGGTTGGGTGGAGGTCC TCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGTCATTGGGTGGAGGTCCTCAGAGC TGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGGTTGGGTGGA GGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTG TCATTTGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTC AGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTAGGCTGTGGTTGG GTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTA GGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTGGGTGGAGG TCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTG GTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAG AGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGT GGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGG CTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GOLM1_chr9_86021146_86104558	86053539	C C	CCACACCA others(923): Show CCACACCATTCCACACCATGCCACACACCACACACACACTCCACACCAAA CCACACACAACCACTCCACACACACATCACACACCACACACCACTCCACA CACACACACACCACACACACATCACACACACCATTCCACCACACAACACA CCACACATCACTCCACAAAACACCACACACACCATGCCACACCACTCCAC ACACAGCACACCACTCCACACACAGCACACCACTCCACACACACCACACA CCACTCCACACGCCACAGCACACCACACATCACACCACACACTACCACAC CACACACCACTCCACACCACATACCACTCCACACCAAAACATACCACACC ACGCCACACCACTCCACACAACGTGCCACACACCAGCCCACACCAAACCA CACACCACACACCACACATCACTCCACACCCCAAACACACCACACACCAC TCCACACACACCACACACCACTCCACACCAAACCACACCACTCCACACCA AACCACACCATGACACACCAAACCACACCACACACATCACACCACACCAC ACCATGCCATATGACTCCACACACCAGACCACACCACATACCACTCCACA CCACACCCCACTCCACACACCATGCCACACACACTACACCACACACACCA CACACACCAAACCACACCACACCACACCACTCCACACTTCACACCAAACC ACACACCCCACCACACACACTCCACACCAAACCACATCACACCACACCAC TCCACACCATACACATCACATACCACACCACACACTGCTCCACACAACAC ATCGCACCACTCCACACCAAACCACACACCATGCCACACCACTCCATATG ACACACACCACGGCACACACCACATACCACACTCCACACCAAACCACACC ACACCATATACCACACCACACACCACCACTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02723.hp1 HG02717.hp2 HG02723.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0201 a0001c0004t0001g0202 a0001c0004t0001g0201 a0001c0004t0001g0202	2	11	0.1818	930	c.310 others(945): Show c.310-949_310-948insAAGTGGTGGTGTGTGGTGTGGTATATGGTG TGGTGTGGTTTGGTGTGGAGTGTGGTATGTGGTGTGTGCCGTGGTGTGTG TCATATGGAGTGGTGTGGCATGGTGTGTGGTTTGGTGTGGAGTGGTGCGA TGTGTTGTGTGGAGCAGTGTGTGGTGTGGTATGTGATGTGTATGGTGTGG AGTGGTGTGGTGTGATGTGGTTTGGTGTGGAGTGTGTGTGGTGGGGTGTG TGGTTTGGTGTGAAGTGTGGAGTGGTGTGGTGTGGTGTGGTTTGGTGTGT GTGGTGTGTGTGGTGTAGTGTGTGTGGCATGGTGTGTGGAGTGGGGTGTG GTGTGGAGTGGTATGTGGTGTGGTCTGGTGTGTGGAGTCATATGGCATGG TGTGGTGTGGTGTGATGTGTGTGGTGTGGTTTGGTGTGTCATGGTGTGGT TTGGTGTGGAGTGGTGTGGTTTGGTGTGGAGTGGTGTGTGGTGTGTGTGG AGTGGTGTGTGGTGTGTTTGGGGTGTGGAGTGATGTGTGGTGTGTGGTGT GTGGTTTGGTGTGGGCTGGTGTGTGGCACGTTGTGTGGAGTGGTGTGGCG TGGTGTGGTATGTTTTGGTGTGGAGTGGTATGTGGTGTGGAGTGGTGTGT GGTGTGGTAGTGTGTGGTGTGATGTGTGGTGTGCTGTGGCGTGTGGAGTG GTGTGTGGTGTGTGTGGAGTGGTGTGCTGTGTGTGGAGTGGTGTGCTGTG TGTGGAGTGGTGTGGCATGGTGTGTGTGGTGTTTTGTGGAGTGATGTGTG GTGTGTTGTGTGGTGGAATGGTGTGTGTGATGTGTGTGTGGTGTGTGTGT GTGTGGAGTGGTGTGTGGTGTGTGATGTGTGTGTGGAGTGGTTGTGTGTG GTTTGGTGTGGAGTGTGTGTGTGGTGTGTGGCATGGTGTGGAATGGTGTG	GOLM1	ENSG00000135052.16	transcript	ENST00000388712.7	protein_coding	3/9			chr9	TogoVar
HUNK_chr21_31868020_32009064	31979522	T T	TTTTTTTT others(923): Show TTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGCGTGAT CTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCTATTCTCCAGTCT CAGCCTCCCAAGTAGCTGGGACTACAGGCACCTGCCACCTCACCTGGCTA ATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCCTGATCTGCCCACCTTGGCCTCCCAAAGTTC TGGGATTACAGGCATAAGCCACCACGCCCAGCTGCATTCTTTATATGTTC TTTGTCAGATGTATGGTTTACAAATATTTTATCCCATTCCATAGATCTCT TTACTCTGTCGATTATTTCCTTTGTTGTGCAGAGCTTTTGAATTTGATGT AATTACATTTGTCTATTTGTGCTTTTGTTGCCTGTGCTTTGGGAGTCATG TCCAAAAAATCATTGTCCAGACCAATGTAATGAAGCCTTTTCTGTAGGTT GTCTTCTAGTAGATTTATAGTTTTGGATCTTGTTTGTTTGTTTATTTATT TATTTTTTGAGATGAAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGG TGTGATCTCAGCTCACCATGACCTCCACCTCCTGGGTTCAAGCGATTCTT GTGCCTCAGCCTCTCAAGTAGCTGGGACTACAGGTGTGCACCACCATGCC CAGCAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCA GGATGGTCTCAATCTCTTGACCTTGTGATCTGCCTGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGTGTGAGCCACCGGGCCCGGCCCCTATTGGCCAT TTCTATGTCTTTTGAGAAATGTCTTCAGATCCTATGTGCACTTTTTAATT GGGTTGTTTTCTGGCTATTGAGTTGTTTGCA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0019 a0002c0003t0019	a0002c0003t0019g0311 a0002c0003t0019g0311	1	326	0.0031	930	c.117 others(949): Show c.1174-3993_1174-3992insGAGATGGAGTCTTGCTCTGTCACCCA GGCTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCT ATTCTCCAGTCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCTGCCAC CTCACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCCTGATCTGCCCACCTTGGC CTCCCAAAGTTCTGGGATTACAGGCATAAGCCACCACGCCCAGCTGCATT CTTTATATGTTCTTTGTCAGATGTATGGTTTACAAATATTTTATCCCATT CCATAGATCTCTTTACTCTGTCGATTATTTCCTTTGTTGTGCAGAGCTTT TGAATTTGATGTAATTACATTTGTCTATTTGTGCTTTTGTTGCCTGTGCT TTGGGAGTCATGTCCAAAAAATCATTGTCCAGACCAATGTAATGAAGCCT TTTCTGTAGGTTGTCTTCTAGTAGATTTATAGTTTTGGATCTTGTTTGTT TGTTTATTTATTTATTTTTTGAGATGAAGTCTCACTCTGTCACCCAAGCT GGAGTGCAGTGGTGTGATCTCAGCTCACCATGACCTCCACCTCCTGGGTT CAAGCGATTCTTGTGCCTCAGCCTCTCAAGTAGCTGGGACTACAGGTGTG CACCACCATGCCCAGCAAATTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCATGTTGGCCAGGATGGTCTCAATCTCTTGACCTTGTGATCTGCCTGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGGGCCCGGCC CCTATTGGCCATTTCTATGTCTTTTGAGAAATGTCTTCAGATCCTATGTG CACTTTTTAATTGGGTTGTTTTCTGGCTATTGAGTTGTTTGCATTTTTTT TTTT	HUNK	ENSG00000142149.9	transcript	ENST00000270112.7	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(923): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGTATATAT GGAACATATATACATATATGGAACCAATACATACATGGAACATATATATG TGGAACCAATACATACATGGAACATATATATGTGGAACCAATACATACAT GGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGA ACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAA CATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCA ATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATA TATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATAC ATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATCTG GAACCAATACATATACGGAACATATATATCTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACA TATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAAT ACATATATGCAACATATATATGTGGAACCAATACATATATGCAACATATA TATGTGGAACCAATACATATATGCAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0033 a0002c0004t0002g0033	1	204	0.0049	930	c.-36 others(941): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGTATATATGGAACATATATACATATATGGAACCAATACATACA TGGAACATATATATGTGGAACCAATACATACATGGAACATATATATGTGG AACCAATACATACATGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATA CATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATAT ATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATA TACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGT GGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACG GAACATATATATCTGGAACCAATACATATACGGAACATATATATCTGGAA CCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAAC ATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAA TACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATAT ATATGTGGAACCAATACATATATGCAACATATATATGTGGAACCAATACA TATATGCAACATATATATGTGGAACCAATACATATATGCAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(923): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGTATATAT GGAACATATATACATATATGGAACCAATACATACATGGAACATATATATG TGGAACCAATACATACATGGAACATATATATGTGGAACCAATACATACAT GGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGA ACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAA CATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCA ATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATA TATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATAC ATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATCTGGAACCAATACATATACGG AACATATATATCTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACA TATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAAT ACATATATGCAACATATATATGTGGAACCAATACATATATGCAACATATA TATGTGGAACCAATACATATATGCAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0230 a0002c0002t0002g0230	1	204	0.0049	930	c.-36 others(941): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGTATATATGGAACATATATACATATATGGAACCAATACATACA TGGAACATATATATGTGGAACCAATACATACATGGAACATATATATGTGG AACCAATACATACATGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATA CATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATAT ATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATA TACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGT GGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACG GAACATATATATGTGGAACCAATACATATACGGAACATATATATCTGGAA CCAATACATATACGGAACATATATATCTGGAACCAATACATATACGGAAC ATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAA TACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATAT ATATGTGGAACCAATACATATATGCAACATATATATGTGGAACCAATACA TATATGCAACATATATATGTGGAACCAATACATATATGCAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IFT140_chr16_1505427_1617072	1599504	G G	GTCCGGGA others(923): Show GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGG GTCAGCCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGATGGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGG GTCAGCCCTCCGTCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGTGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCCGCCCGGCCAGCCG CCCTGTCCGGGAGGGAGGTGGGGGGGGGGCCAGCCCCCCTGCCCGGCCAG CCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCGGCCCCCCGCCGGGCCAGCCACCCCGTCCGGGAGGGAGGTG GGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCGGCCCCCCGCCTGGCCAGCCTTCCCA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0003 a0011c0012t0003	a0011c0012t0003g0051 a0011c0012t0003g0051	1	322	0.0031	930	c.369 others(947): Show c.369+2865_369+2866insTGGGAAGGCTGGCCAGGCGGGGGGCCGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCGGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCACCTCCCTCCCGGACA GGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGACGGAGGGCT GACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCT GACCCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GA	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
JAG2_chr14_105135995_105173776	105162474	C C	CAAAGCCC others(923): Show CAAAGCCCAGGGTACCCCAGGTCCAGGGCACCCCAAAGCCCAGAGTATCC CACAGCCCAGGGCACTGCATGGCCCAGCATACTCCAAGACCCAGGGCACC CCAGTTCCAGGGCACCCCAAAGCCCAGGGTACCCCAGAGCCCCAAAGCAC TGCATGGCCCAGCACACCCCAAGGTCCAGGGCACCTTAAAGCCCAGGGTA CCCCAGGTCCAGGGCACCCCAAAGCCCAGAGTATCCCACAGCCCAGGGCA CTGCATGGCCCAGCATACTCCAAGACCCAGGGCACCCCAGTTCCAGGGCA CCCCAAAGCCCAGGGTACCCCAGAGCCCCAAAGCACTGCATGGCCCAGCA CACCCCAAGGTCCAGGGCACCTTAAAGCCCAGGGTACCCCAGGTCCAGGG CACCCCAAAGCCCAGAGTATCCCACAGCCCAGGGCACTGCATGGCCCAGC ATACTCCAAGACCCAGGGCACCCCAGTTCCAGGGCACCCCAAAGCCCAGG GTACCCCAGAGCCCCAAAGCACTGCATGGCCCAGCACACCCCAAGGTCCA GGGCACCTTAAAGCCCAGGGTACCCCAGGTCCAGGGCACCCCAAAGCCCA GAGTATCCCACAGCCCAGGGCACTGCATGGCCCAGCATACTCCAAGACCC AGGGCACCCCAGTTCCAGGGCACCCCAAAGCCCAGGGTACCCCAGAGCCC CAAAGCACTGCATGGCCCAGCACACCCCAAGGTCCAGGGCACCTTAAAGC CCAGGGTACCCCAGGTCCAGGGCACCCCAAAGCCCAGAGTATCCCACAGC CCAGGGCACTGCATGGCCCAGCATACTCCAAGACCCAGGGCACCCCAGTT CCAGGGCACCCCAAAGCCCAGGGTACCCCAGAGCCCCAAAGCACTGCATG GCCCAGCACACCCCAAGGTCCAGGGCACCTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02293.hp1 HG02486.hp2 others(3): Show HG01168.hp1 HG02293.hp1 HG02486.hp2 HG03927.hp1 NA18970.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 others(3): Show a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0016g0177	6	236	0.0254	930	c.418 others(947): Show c.418-4712_418-4711insAAGGTGCCCTGGACCTTGGGGTGTGCTG GGCCATGCAGTGCTTTGGGGCTCTGGGGTACCCTGGGCTTTGGGGTGCCC TGGAACTGGGGTGCCCTGGGTCTTGGAGTATGCTGGGCCATGCAGTGCCC TGGGCTGTGGGATACTCTGGGCTTTGGGGTGCCCTGGACCTGGGGTACCC TGGGCTTTAAGGTGCCCTGGACCTTGGGGTGTGCTGGGCCATGCAGTGCT TTGGGGCTCTGGGGTACCCTGGGCTTTGGGGTGCCCTGGAACTGGGGTGC CCTGGGTCTTGGAGTATGCTGGGCCATGCAGTGCCCTGGGCTGTGGGATA CTCTGGGCTTTGGGGTGCCCTGGACCTGGGGTACCCTGGGCTTTAAGGTG CCCTGGACCTTGGGGTGTGCTGGGCCATGCAGTGCTTTGGGGCTCTGGGG TACCCTGGGCTTTGGGGTGCCCTGGAACTGGGGTGCCCTGGGTCTTGGAG TATGCTGGGCCATGCAGTGCCCTGGGCTGTGGGATACTCTGGGCTTTGGG GTGCCCTGGACCTGGGGTACCCTGGGCTTTAAGGTGCCCTGGACCTTGGG GTGTGCTGGGCCATGCAGTGCTTTGGGGCTCTGGGGTACCCTGGGCTTTG GGGTGCCCTGGAACTGGGGTGCCCTGGGTCTTGGAGTATGCTGGGCCATG CAGTGCCCTGGGCTGTGGGATACTCTGGGCTTTGGGGTGCCCTGGACCTG GGGTACCCTGGGCTTTAAGGTGCCCTGGACCTTGGGGTGTGCTGGGCCAT GCAGTGCTTTGGGGCTCTGGGGTACCCTGGGCTTTGGGGTGCCCTGGAAC TGGGGTGCCCTGGGTCTTGGAGTATGCTGGGCCATGCAGTGCCCTGGGCT GTGGGATACTCTGGGCTTTGGGGTGCCCTGGACCTGGGGTACCCTGGGCT TT	JAG2	ENSG00000184916.9	transcript	ENST00000331782.8	protein_coding	2/25			chr14	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(923): Show CGCCCCCACAGCCGCCCCCCCCACAGCTGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCCG CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCA CAGCCACCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCACAGCCGCC CCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCG CCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCA CAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCA AAGCCACCTCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCC CCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCC CCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCG CCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGC CGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCCACA GCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCC ACAGCCACCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00735.hp1 others(1): Show HG00140.hp2 HG00280.hp1 HG00735.hp1 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0002 a0001c0001t0001g0064 a0001c0001t0001g0065	4	8	0.5000	930	c.-41 others(945): Show c.-41+629_-41+630insCCCACAGCTGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCC ACAGCCACCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCC CCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCACAGCCGC CCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCC ACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCC AAAGCCACCTCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCC CCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACC CCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCC GCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAG CCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCCAC AGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCC CACAGCCACCCCCGCAGCTGCCCCCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KIRREL3_chr11_126418358_127005770	126632693	G G	GCCTCCTT others(923): Show GCCTCCTTCCCTGTGCAGCTGCTTTTCTGTCCTGCCCAAGAGCAGCCCTG GGGAGGGGGCAATTGAGTGAGGGACTGCGAATGCCAGAAAACATGGGTGA GAAGCATGTCCGCACCTCCCACCCAACCTGGTGGGAATCCTGTAAAGCCT GCCTGAACTCTTGTTCATATCGTTGCTGCATACTGGGCATTGGGAGATAA AAATTGATGAGGAGACATTAGTATACTTGTTACAGCAGTGGCTAATATGC AGTGGAGGAGGCTTGTGGGGAGAGAGAGAGAGAGAGAGAAAAGAAGAAGA AAAAGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGAAGGAGGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAAGGAAGGAACGGTAGCGGCTATCCAAGGTGCGGACAACAGCCCTTA TAGCCCTTATGCAGCTCAGATGCCCACTCCATGACAGGTATGAGCTGACC TGGGCATGCATTCTCTGCAGGGAGACAATTACTGTTGCTGTGTGTGACAG GGTTGATACATCCTGCTGAAGGTAGGCATCTCTGTGTTTCCTTATTTTGT AATCCTTTCAAGCCTTCTGAATCCAGCCTCTGTCTCCAGCTGTCCAGTTC TGGACAAGCCTGCTACTCAGTGGAACCCCTCGTTTCTACCCCCAGGTGGT CTAGGCACTGAGGCTACAGAGGGCTATAAGGGCTGTTGTCCGCACCTTGG ATAGCCGCTACCGTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCCTCCTTCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCTTTTTCTTCTTC TTTTCTCTCTCTCTCTCTCTCTCCCCACAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0007 a0001c0002t0025g0007	1	100	0.0100	930	c.56- others(947): Show c.56-69782_56-69781insTTTGTGGGGAGAGAGAGAGAGAGAGAGA AAAGAAGAAGAAAAAGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGAAGGA GGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAACGGTAGCGGC TATCCAAGGTGCGGACAACAGCCCTTATAGCCCTCTGTAGCCTCAGTGCC TAGACCACCTGGGGGTAGAAACGAGGGGTTCCACTGAGTAGCAGGCTTGT CCAGAACTGGACAGCTGGAGACAGAGGCTGGATTCAGAAGGCTTGAAAGG ATTACAAAATAAGGAAACACAGAGATGCCTACCTTCAGCAGGATGTATCA ACCCTGTCACACACAGCAACAGTAATTGTCTCCCTGCAGAGAATGCATGC CCAGGTCAGCTCATACCTGTCATGGAGTGGGCATCTGAGCTGCATAAGGG CTATAAGGGCTGTTGTCCGCACCTTGGATAGCCGCTACCGTTCCTTCCTT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCCTCCTTCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCT TTTTCTTCTTCTTTTCTCTCTCTCTCTCTCTCTCCCCACAAGCCTCCTCC ACTGCATATTAGCCACTGCTGTAACAAGTATACTAATGTCTCCTCATCAA TTTTTATCTCCCAATGCCCAGTATGCAGCAACGATATGAACAAGAGTTCA GGCAGGCTTTACAGGATTCCCACCAGGTTGGGTGGGAGGTGCGGACATGC TTCTCACCCATGTTTTCTGGCATTCGCAGTCCCTCACTCAATTGCCCCCT CCCCAGGGCTGCTCTTGGGCAGGACAGAAAAGCAGCTGCACAGGGAAGGA GG	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
LINGO2_chr9_27932617_29218601	28189717	A A	AAGGGAGG others(923): Show AAGGGAGGAAGGAAGGGAGGAAGAAAGGGAAGGAAGGAAGGGAGGAAGGA AGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAG GAAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGA AGGAAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAG GAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGGAGGGAGGA AGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAG GAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAGGGAGGAAGGAA GGAAGGGAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGG AAGGAAGGGAGGAAGGAAGGAGGAAGGAAGGAAGGGAGGAAGGAAGGGAG GAAGAAAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGG AGGAAGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGG AAGGGAGGGAGGAAGGAAGGGAGGAAAGGAAGGAAGGAAGGGAGGAAGGA AGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGGAG GAAGGAAGGAAGGGAGGAAGGAAGGGAGGAAGGAAGGAAAGGGAGGAAGG AAGGGAGGAAGAAAGGAAGGAAGGAAGGAGGAAGGAAGGGAGGAAGGAAG GAAGGAAGGGAGGGAGAAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGC AGGAAGGGCGGAAGGAAGGAAGGAAGGGCGGGTCCGGAAGCGGAAGCCGA AGGAAGGAAGGGAGGCAGGAAGGCAGGGAGGAAGGGCGGGCCGGCCGCCG GCCGGCCGGACGGAAGGAAGGAAGGAAGGCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0009 a0001c0001t0007g0009	1	54	0.0185	930	c.-36 others(951): Show c.-36+105490_-36+105491insGGCCTTCCTTCCTTCCTTCCGTCC GGCCGGCCGGCGGCCGGCCCGCCCTTCCTCCCTGCCTTCCTGCCTCCCTT CCTTCCTTCGGCTTCCGCTTCCGGACCCGCCCTTCCTTCCTTCCTTCCGC CCTTCCTGCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTTCTCCCTCCC TTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCTTCCTTCCTTCCTTTCTTC CTCCCTTCCTTCCTCCCTTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCC TTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTCCCTT CCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTTTCCTCCCTTCCTTCCTCC CTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCT TCTTCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTTCC TTTCTTCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTCCTTCCTTCCTCC CTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCT CCCTTCCTTCCTTCCTCCCTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCC TTCCTTCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTT CCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCC TCCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTC CCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCC TCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTC CCTCCCTTCCTTCCTCCCTTCCTTCCTTCCCTTTCTTCCTCCCTTCCTTC CTCCCT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LMF1_chr16_848634_975984	914617	C C	CCATGACC others(923): Show CCATGACCATTGGTGACACACTCCCTCCCTCCTTCCCATGACCATTGGTG ACACACTCCCTCCCTCCCTCCCCATGACCATTGGTGACACACTCCCTTCC TCCTTTCCATGACCACTGGTGACACACTCCCTCCCTCCTTCCCATGACCA TTGGTAACACACTCCCTCCCTCCTTCCCATGACCACTGGTGACACACTCC CTCCCTCCCTTCCCATGACCATTGGTGACACCCTCCCTCCTTCCCATGAC CATTGGTGACACACTCCCTCCCTCCCTCCCCACGACTATTGGTGACACAC TCCCTCCCTCCCTTCCCATGACCATTGGTGACACACTCCCTCCCTCCCTC CCCATGACCATTGGTGACACATTCCCTCCCTCCTCATGACTATTGGTGAC ACACTCCCTCCCTCCCCATGACTATTGGTGACACACTCCCTCCCTCCCCA TGACCATTGGTGACACATTCCCTCCCTCCCTCCTCATGACCATTGGTGAC ACACTCCCTCCCTCCCTCCCCATGACCATTGGTGACACACTCCCTCCCTC CCTCCCATGACTATTGGTGACACACTCCCTCCCTCCCTCCCCATGACTAT TGGTGACACACTCCCTCCCTCCCTCTTCATGACCATTGGTGACACACTCC CTCCCTCCCTCCCCATGACCATTGGTGACACACTCCCTCCCTCCTCATGA GCATTGGTGACACACTCCCTCCCTCCCATGACCATTGGTGACACACTCCC TCCCTCCCTCCTCATGACCATTGGTGGCACACTCCCTCCCTCCTTATGAC CATTGGTGACACACTCCCTCCCTCCCTATGACTATTGGTGACACACTCCC TCCCTCCCTCATGACCATTGGTGACACATTCCCTCCCTCCATCCTCATGA CCATTGGTGACACACTCCCTCCCTCCCTCCT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0064 a0001c0004t0001g0064	1	4	0.2500	930	c.515 others(947): Show c.515-3539_515-3538insAGGAGGGAGGGAGGGAGTGTGTCACCAA TGGTCATGAGGATGGAGGGAGGGAATGTGTCACCAATGGTCATGAGGGAG GGAGGGAGTGTGTCACCAATAGTCATAGGGAGGGAGGGAGTGTGTCACCA ATGGTCATAAGGAGGGAGGGAGTGTGCCACCAATGGTCATGAGGAGGGAG GGAGGGAGTGTGTCACCAATGGTCATGGGAGGGAGGGAGTGTGTCACCAA TGCTCATGAGGAGGGAGGGAGTGTGTCACCAATGGTCATGGGGAGGGAGG GAGGGAGTGTGTCACCAATGGTCATGAAGAGGGAGGGAGGGAGTGTGTCA CCAATAGTCATGGGGAGGGAGGGAGGGAGTGTGTCACCAATAGTCATGGG AGGGAGGGAGGGAGTGTGTCACCAATGGTCATGGGGAGGGAGGGAGGGAG TGTGTCACCAATGGTCATGAGGAGGGAGGGAGGGAATGTGTCACCAATGG TCATGGGGAGGGAGGGAGTGTGTCACCAATAGTCATGGGGAGGGAGGGAG TGTGTCACCAATAGTCATGAGGAGGGAGGGAATGTGTCACCAATGGTCAT GGGGAGGGAGGGAGGGAGTGTGTCACCAATGGTCATGGGAAGGGAGGGAG GGAGTGTGTCACCAATAGTCGTGGGGAGGGAGGGAGGGAGTGTGTCACCA ATGGTCATGGGAAGGAGGGAGGGTGTCACCAATGGTCATGGGAAGGGAGG GAGGGAGTGTGTCACCAGTGGTCATGGGAAGGAGGGAGGGAGTGTGTTAC CAATGGTCATGGGAAGGAGGGAGGGAGTGTGTCACCAGTGGTCATGGAAA GGAGGAAGGGAGTGTGTCACCAATGGTCATGGGGAGGGAGGGAGGGAGTG TGTCACCAATGGTCATGGGAAGGAGGGAGGGAGTGTGTCACCAATGGTCA TG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	3/10			chr16	TogoVar
MED16_chr19_862963_898187	871891	C C	CGGGGAGA others(923): Show CGGGGAGAGGGGAGAGGGGAGAGCGGGGAGCGGGGAGAGGGGAGAGGGGA GAGGGGAGAGCGGGGAGCGGGGAGAGGGGAGAGGGGAGAGCGGGGAGCGG GGAGAGGGGAGAGCGGGGAGCGGGGAGAGGGGAGAGCGGGGAGCGGGGAG AGGGGAGAGAGGGGAGCGGGGAGAGGGGAGAGAGGGGAGCGGGGAGAGGG GAGAGAGGGGAGAGAGGGGAGAGAGGGGAGAGAGGGGAGAGAGGGGAGAG GGGAGAGAGGGGAGAGAGGGGAGAGGGGAGAGAGGGGAGAGGGGAGAGAG GGGAGAGGGGAGAGAGGGGAGAGAGGGGAGAGAGGGGAGAGAGGGGAGCG GGGAGAGAGGGGAGCGGGGAGAGGGGGGAGAGGGGAGAGAGGGGAGAGCG GGGAGAGCGGGGAGAGCGGGGAGAGCGGGGAGAGCGGGGAGAGCGGGGAG AGCGGGGAGCGGGGGGGAGCGGGGAGGGGCGGGGAGGGGCGGGGAGGGGC GGGGGGGAGCGGGGAGGGGCGGGGGGAGCGGGGAGGGGCGGGGGGGAGCG GGGAGGGGCGGGGGGGCGGGGGGGAGCGGGGAGGGGCGGGGGGGCGGGGG GGGCGGGGAGGGGCGGGGGGGATCGGGGAGGGGCGGGGGGGGGCGGGGAG GGGCGGGGGGGATCGGGGAGGGGCGGGGGGGATCGGGGAGGGGCGGGGGG GATCGGGGAGGGGCGGGGGGGATCGGGGAGGGGCGGGGGGGATCGGGGAG GGGCGGGGGGGATCGGGGAGGGGCGGGGGGGATCGGGGAGGGGCGGGGGG GATCGGGGAGGGGCGGGGGGGATCGGGGAGGGGCGGGGGGGATCGGGGAG GGGCGGGGGGGATCGGGGAGGGGCGGGGGGGGCGGGGGGGGAGCGGGGAG GGGCGGGGGGGAGCGGGGAGGGGCGGGCGGG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0014 a0002c0007t0001g0014	1	6	0.1667	930	c.209 others(945): Show c.2098+34_2098+35insCCCGCCCGCCCCTCCCCGCTCCCCCCCGCC CCTCCCCGCTCCCCCCCCGCCCCCCCCGCCCCTCCCCGATCCCCCCCGCC CCTCCCCGATCCCCCCCGCCCCTCCCCGATCCCCCCCGCCCCTCCCCGAT CCCCCCCGCCCCTCCCCGATCCCCCCCGCCCCTCCCCGATCCCCCCCGCC CCTCCCCGATCCCCCCCGCCCCTCCCCGATCCCCCCCGCCCCTCCCCGAT CCCCCCCGCCCCTCCCCGATCCCCCCCGCCCCTCCCCGATCCCCCCCGCC CCTCCCCGCCCCCCCCCGCCCCTCCCCGATCCCCCCCGCCCCTCCCCGCC CCCCCCGCCCCCCCGCCCCTCCCCGCTCCCCCCCGCCCCCCCGCCCCTCC CCGCTCCCCCCCGCCCCTCCCCGCTCCCCCCGCCCCTCCCCGCTCCCCCC CGCCCCTCCCCGCCCCTCCCCGCCCCTCCCCGCTCCCCCCCGCTCCCCGC TCTCCCCGCTCTCCCCGCTCTCCCCGCTCTCCCCGCTCTCCCCGCTCTCC CCGCTCTCCCCTCTCTCCCCTCTCCCCCCTCTCCCCGCTCCCCTCTCTCC CCGCTCCCCTCTCTCCCCTCTCTCCCCTCTCTCCCCTCTCTCCCCTCTCC CCTCTCTCCCCTCTCCCCTCTCTCCCCTCTCCCCTCTCTCCCCTCTCTCC CCTCTCCCCTCTCTCCCCTCTCTCCCCTCTCTCCCCTCTCTCCCCTCTCT CCCCTCTCCCCGCTCCCCTCTCTCCCCTCTCCCCGCTCCCCTCTCTCCCC TCTCCCCGCTCCCCGCTCTCCCCTCTCCCCGCTCCCCGCTCTCCCCTCTC CCCGCTCCCCGCTCTCCCCTCTCCCCTCTCCCCGCTCCCCGCTCTCCCCT CTCCCCTCTCCCCTCTCCCCGCTCCCCGCTCTCCCCTCTCCCCTCTCCCC	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	12/15			chr19	TogoVar
MSR1_chr8_16102881_16197651	16189618	A A	ATATATAT others(923): Show ATATATATTTGATATATATTTTTTATATATTTTATATATATATAAAATCT TATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATTT TATATATATTTTATATATATATAAAATCTTACTTTATATTTTATATATAT GAAATCTTACTTTATATATATTTTATATATATATAAAATCTTACTTTATA TATATTTTATATATATAAAATCTTATTTTATATATATAAAATCTTATTTT ATATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATA TATATAAAATCTTATTTTATATATATTTTATATATATATAAAATAAGATT TTATATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATA TATATATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGA TTTTATATATATTTTATATATATATAAAATAAGATTTTATATATATTTTA TATATATATAAAATAAGATTTTATATATATTTTATATATATATAAAATAA GATTTTATATATATTTTATATATATATAAAATAAGATTTTATATATATAT AAAATAAGATTTTATATATATTTTATATATATAAAATAAGATTTTATATA TATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTATATATA TATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTT ATATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATCTT ATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATATA AAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTATAT ATATTTTATATATATATAAAATCTTATTTTA	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	295	0.0034	930	c.-5+ others(945): Show c.-5+2979_-5+2980insTAAAATAAGATTTTATATATATATAAAATA TATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATT TTATATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAA TAAGATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATA TAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTAT ATATATATAAAATCTTATTTTATATATATATAAAATCTTATTTTATATAT ATATATAAAATCTTATTTTATATATATAAAATATATATAAAATCTTATTT TATATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAAT CTTATTTTATATATATATAAAATATATATAAAATCTTATTTTATATATAT ATAAAATATATATAAAATCTTATTTTATATATATATAAAATATATATAAA ATCTTATTTTATATATATATAAAATATATATAAAATCTTATTTTATATAT ATATAAAATATATATAAAATCTTATTTTATATATATATAAAATATATATA AAATCTTATTTTATATATATATAAAATATATATAAAATAAGATTTTATAT ATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATATA TAAAATAAGATTTTATATATATAAAATAAGATTTTATATATATAAAATAT ATATAAAGTAAGATTTTATATATATATAAAATATATATAAAGTAAGATTT CATATATATAAAATATAAAGTAAGATTTTATATATATATAAAATATATAT AAAATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAAT AAGATTTTATATATATATAAAATATATAAAAAATATATATCAAATATATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MUC4_chr3_195741771_195816929	195775965	C C	CCATACCT others(923): Show CCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATACCTTC CACACCCATACCTTCCACAGTCATACCTTCCACATCCATACCTTCCACGG CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCTTA CCTTCCACACCCATACCTTCCACGGTCATACCTTCCACGGCCATACCTTC CACGGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCATACCTTCCGCACCCATACCTTCCGCACCCTTACCTTCCGCACCCATA CCTTCCGCACCCATACCTTCCGCACCCATACCTTCCACACCCATACCTTC CGCACCCATACCTTCCACACCCATACCTTCCACGGCCATACCTTCCACAC CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACAGTCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTC CGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCAC CCATACCTTCCACAGTCATAACTTCCACAGTCATACCTTCCACACCCATA CCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACAG TCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACAGTCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACAG TCATACCTTCCACACCCATACCTTCCACAGT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0069 a0069	a0069c0124 a0069c0124	a0069c0124t0001 a0069c0124t0001	a0069c0124t0001g0172 a0069c0124t0001g0172	1	225	0.0044	930	c.129 others(951): Show c.12944-1661_12944-1660insACTGTGGAAGGTATGGGTGTGGAA GGTATGACTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAT GACTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTG TGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAA GGTATGACTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAT GGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGACTG TGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGTTATGACTGTGGAA GGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTAT GGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGACTG TGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAA GGTATGGGTGTGGAAGGTATGGCCGTGGAAGGTATGGGTGTGGAAGGTAT GGGTGCGGAAGGTATGGGTGTGGAAGGTATGGGTGCGGAAGGTATGGGTG CGGAAGGTATGGGTGCGGAAGGTAAGGGTGCGGAAGGTATGGGTGCGGAA GGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTAT GACCGTGGAAGGTATGGCCGTGGAAGGTATGACCGTGGAAGGTATGGGTG TGGAAGGTAAGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAA GGTATGGCCGTGGAAGGTATGGATGTGGAAGGTATGACTGTGGAAGGTAT GGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGGGTG TGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAA GGTATG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
NXN_chr17_794310_984776	841445	C C	CACCCTGA others(923): Show CACCCTGACCACGGAGCATCTCACACGGGCGAGCGGGTCCCCCCTGACCA CGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACAGAGCATCTCA CACGGGCAAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGC AGGTCCCCCCCGACCATGGAGCATCTCACACGGGCGAGCAGGTCCACCCT GACCACGGAGCATCTCACACCCACGGGCAGGTCCCCCCGACCACGGCGCA TCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGG CGAGCAGGTCCTCCCGACCATGGAGCATCTCACACCCGCGAGCAGGTCCT CCCGACCATGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCGACCACGGA GCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACAC GGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGG TCCCCCCTGACCACGGAGCATCTCACACCCGCGAGCAGGTCCCCCCGACC ACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCT CACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGA GCAGGTCCACCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCC CCTGACCACGGAGCATCTCACACCCACAGGCAGGTCCCCCCGACCACGGC GCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACAC CCACGGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGT CCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACC ACGGCGCATCTCACACGGGCGAGCAGGTCCA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	160	0.0063	930	c.361 others(949): Show c.361-15368_361-15367insTGGACCTGCTCGCCCGTGTGAGATGC GCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAG GGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCC CGTGGGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGA GATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCTCCGTGG TCAGGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGTGGA CCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCC GTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGC GCCGTGGTCGGGGGGACCTGCTCGCGGGTGTGAGATGCTCCGTGGTCAGG GGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCT CGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGA GATGCTCCGTGGTCGGGGGGACCTGCTCGCCGGCGTGAGATGCTCCATGG TCGGGAGGACCTGCTCGCGGGTGTGAGATGCTCCATGGTCGGGAGGACCT GCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTG TGAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCTCCG TGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCTCCATGGTCGGGGGG GACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTTGC CCGTGTGAGATGCTCTGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATG CTCCGTGGTCAGGGGGGACCCGCTCGCCCGTGTGAGATGCTCCGTGGTCA GGGT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(923): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGG GGGAGAGAAGGGGAGGGGGAGACAAGGGGGAGAGAAGGGGAGGGGGAGAG GGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGG GGAGAGAGGGGGAGGGGGAGAGAGGGGGAGAGAAAGGGAGAGGGGGAGAG GGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAA GGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGGTGGAGGA GGGGGAGAGGGGGAGAGGTGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAG GAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGG GAGAGGGGGAGGAGGGGGGGAGGGGGAGAGGGGGAGAGGGGGAGGAGGGG GGGAGGGGGAGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGG GAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAAGTGGG AAGGGGCAAGAGAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGGCGAGTG AGAGAGAGAGGGCGAGTGAGAGAGAGAGGGCAGGTGAGAGAGAGGGCGAG AGAAAGAGAGGGTGGGCAAGAGAGAGAGGGCGAGGGCGAGAGAGAGAGAG GGCGAGAGAGAGAGGGCGGGCGAGAGAGAGGGCAGGCGAGAGAGAGGGCG GGTGAGAGAGAGAGAGGGTGGGCAAGAGAGAGAGAGAGGGCGGGCAAGAG AGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGGGCGAGAGGGAGAG AGAGGGAGAGGGCGAGAGGGAGAGAGAGGGAGAGAAAGAGGGAGAGAAAG AGGGAGAGAAAGAGGGAGAGAAGGAGAGAAG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0009 a0009	a0009c0026 a0009c0026	a0009c0026t0001 a0009c0026t0001	a0009c0026t0001g0116 a0009c0026t0001g0116	1	24	0.0417	930	c.371 others(947): Show c.3718+654_3718+655insCTTCTCTCCTTCTCTCCCTCTTTCTCTC CCTCTTTCTCTCCCTCTTTCTCTCCCTCTCTCTCCCTCTCGCCCTCTCCC TCTCTCTCCCTCTCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTC TCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCCTCTCTCTCTCTC ACCCGCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGCCCTCTCTCTCTC GCCCTCTCTCTCTCTCGCCCTCGCCCTCTCTCTCTTGCCCACCCTCTCTT TCTCTCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCACTCGCCCTCTCTC TCTCACTCGCCCTCTCTCACCCGCCCTCTCTCTCGCCCTCTCTCTTGCCC CTTCCCACTTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCT CTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCTCCCCCT CCCCCCCTCCTCCCCCTCTCCCCCTCTCCCCCTCCCCCCCTCCTCCCCCT CTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCC CTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCACCTCTCCCCCTCTCC CCCTCCTCCACCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCTTCTCTC CCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTC CCCCTCTCCCCCTCTCCCTTTCTCTCCCCCTCTCTCCCCCTCCCCCTCTC TCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCTCTC CCCCTCTCCCCCTCCCCTTCTCTCCCCCTTGTCTCCCCCTCCCCTTCTCT CCCCCTCTCCCACTCTCTCCCTCCCCTTCTCTCCCCATCCCCTTCTCTCC CC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PLCXD1_chrX_276381_308356	298499	C C	CCACATGG others(923): Show CCACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATCCTGTGTAT CACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTATC ACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATCCTGTCTATCA CATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTATCAC ATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTCCCACA TGGGGATTAGGACGTGGACATCTTTGGGGCTGTTATTCTGTCTCCCACAT GGGGATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTATCACATG GGGATTAGGATGTGGACATCTTTGGGGACATTATTCTGTCTCCCACATGG GGATTAGGACGTGGACATCTTTGGGGCTGTTATTCTGTCTCCCACATGGG GATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTATCACATGGGG ATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTATCACATGGGGA TTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTATCACATGGGGAT TAGGACGTGGACATCTTTGGGGACATTATTCTGTCTCCCACATGGGATTA GGACGTGGACATCTTTGGGGCCATTATCCTGTCTACCTCATGGGGATTAG GACGTGGACATCTTTGGGGACATTATTCTGTCTACCTCATGGGGATTAGG ACGTGGACATCTTTGGGGACATTATTCTGTCTATCACATGGGGATTAGGA CGTGGACATCTTTGGGGACATTATCCTGTCTACCTCATGGGGATTAGGAC GTGGATATCTTTGGGGACATTATTCTGTCTATCACATGGGGATTAGGACG TGGACATCTTTGGGGACATTATTCTGTCTAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0051 a0001c0003t0051	a0001c0003t0051g0076 a0001c0003t0051g0076	1	149	0.0067	930	c.734 others(945): Show c.734-565_734-564insCCATTATCCTGTGTATCACATGGGGATTAG GACGTGGACATCTTTGGGGCCATTATTCTGTCTATCACATGGGGATTAGG ACGTGGACATCTTTGGGGCCATTATCCTGTCTATCACATGGGGATTAGGA CGTGGACATCTTTGGGGCCATTATTCTGTCTATCACATGGGGATTAGGAC GTGGACATCTTTGGGGACATTATTCTGTCTCCCACATGGGGATTAGGACG TGGACATCTTTGGGGCTGTTATTCTGTCTCCCACATGGGGATTAGGACGT GGACATCTTTGGGGCCATTATTCTGTCTATCACATGGGGATTAGGATGTG GACATCTTTGGGGACATTATTCTGTCTCCCACATGGGGATTAGGACGTGG ACATCTTTGGGGCTGTTATTCTGTCTCCCACATGGGGATTAGGACGTGGA CATCTTTGGGGACATTATTCTGTCTATCACATGGGGATTAGGACGTGGAC ATCTTTGGGGACATTATTCTGTCTATCACATGGGGATTAGGACGTGGACA TCTTTGGGGACATTATTCTGTCTATCACATGGGGATTAGGACGTGGACAT CTTTGGGGACATTATTCTGTCTCCCACATGGGATTAGGACGTGGACATCT TTGGGGCCATTATCCTGTCTACCTCATGGGGATTAGGACGTGGACATCTT TGGGGACATTATTCTGTCTACCTCATGGGGATTAGGACGTGGACATCTTT GGGGACATTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTG GGGACATTATCCTGTCTACCTCATGGGGATTAGGACGTGGATATCTTTGG GGACATTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGG GACATTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
RAB11FIP3_chr16_420649_528011	492490	C C	CCGGGGAG others(923): Show CCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGG CCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCT CCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGG AGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGA GGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCG	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0125 a0001c0001t0003g0125	1	250	0.0040	930	c.126 others(949): Show c.1265+3490_1265+3491insCGGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCC CAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGA GACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACC CGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCC TCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCA GGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGA CCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13			chr16	TogoVar
RNF223_chr1_1065967_1079306	1078565	A A	AGGCTGAG others(923): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCATCGGGGG AGGCTGAGGCTAGGGGGACTCCGTCGGGGGAGGCTGAGGCTATGGGGACT CCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGCTGAGGC TATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGCGGG AGGCTGAGGCTATGGGGACTCCGTGGCGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTGGCTGTGGC TATGGGGACTCCGTGCCGGGTGGCTGTGGCTATGGGGACTCCGTGCCGAG AGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACT CCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGGC TATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGACGCTGAGGCTATGGGGACT CCGTGGGGGGACGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGG AGGCTGAGTCTATGGGGACTCCGTGAGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0004 a0002c0003t0002g0004	1	216	0.0046	930	c.-45 others(941): Show c.-4560_-4559insACCCCTCACGGAGTCCCCATAGACTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCGTCCCCCCACGGAGT CCCCATAGCCTCAGCGTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CGCACGGAGTCCCCATAGCCTCAGCCTCCCCCAACGGAGTCCCCATAGCC TCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCTCCCGGCACGGAGT CCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCTCTC GGCACGGAGTCCCCATAGCCACAGCCACCCGGCACGGAGTCCCCATAGCC ACAGCCACCCCGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGT CCCCATAGCCTCAGCCTCCCGCCACGGAGTCCCCATAGCCTCAGCCTCCC GCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCC TCAGCCACCCCTCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGT CCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC GGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCAACGGAGT CCCCATAGCCTCAGCCTCCCCCGACGGAGTCCCCCTAGCCTCAGCCTCCC CCGATGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCACCCCTCACGGAGT CCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4260		chr1	TogoVar
RPS21_chr20_62382103_62393520	62382278	G G	GTGATGGT others(923): Show GTGATGGTGATATTGATGATGTGATGATGATGGTGGTGGTGGTGGCGATG GTGATGATGGTATTGACGATGATGATGACGGTGGTGATGGTGGTGGTGAT GGTGATGATGGTGGTGGTGGTGATGGTGATGATGGTGGTGGTGATGGTGA TGGTGACGATGGTGGTGATGGTGGTGGTGGTGATGGTGACGATGGTGGTG ATGGTGGTGGTGGTGATGGTGGTGATGATGGTGATGGTGGTGATGGTGAT GCTGATGGTGGTGGTGATGATGGTGATGGTGAGGATGGTGGTGACGGTGG TCATGATGGTGATGATGGTGGTGATGATGATGGTGATGGTGGTGGTGATG GTAGTGATGATGGAGGTGACGGTGATGGTGATAGTGATGGTGGTGATGAT GGTGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGATGCTGGTGGTGA TGGTGATGGTGGTGGTGATGGTGATGATGATGGTGATGGTGGTGATGATG ATGGTGATGGTAGTGATGATGGTGGTGATGGTGATGATGGTGATGGTAGT GATGATGGTGGTGGTGGTGATGGTGGTCATGATGGTGATGGTGGTGATGG TGGTGACGGTGGTGGTGGTGATGGTGACGGTGGTCATGGTGGTGGTGATG GTGGTGATGGTGGTGGTGATGGTGATGATGATGGTGGCAATGGTGATGAT GTGATGATGGTGGTGGTGATGATAGTGATGGCGATGATGTGATGATGGTG GTGGTGGTGGTGATGGCGATGGTGATGATGGTGGTGATGATAGTGATGGC GATGATGTGATGATGGTGGTGGTGATGATAGTGATGGCGATGATGTGATG GTGGTGGTGATAGTGATGGCGATGATGTGATGATGGTGGTGGTGGTGATG ATAGTGATGGCGATGGTGATGGTGGTGGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	10	0.1000	930	c.-48 others(941): Show c.-4877_-4876insTGATGGTGATATTGATGATGTGATGATGATGGTG GTGGTGGTGGCGATGGTGATGATGGTATTGACGATGATGATGACGGTGGT GATGGTGGTGGTGATGGTGATGATGGTGGTGGTGGTGATGGTGATGATGG TGGTGGTGATGGTGATGGTGACGATGGTGGTGATGGTGGTGGTGGTGATG GTGACGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGATGGTGAT GGTGGTGATGGTGATGCTGATGGTGGTGGTGATGATGGTGATGGTGAGGA TGGTGGTGACGGTGGTCATGATGGTGATGATGGTGGTGATGATGATGGTG ATGGTGGTGGTGATGGTAGTGATGATGGAGGTGACGGTGATGGTGATAGT GATGGTGGTGATGATGGTGGTGGTGGTGGTGATGGTGATGGTGGTGATGG TGATGCTGGTGGTGATGGTGATGGTGGTGGTGATGGTGATGATGATGGTG ATGGTGGTGATGATGATGGTGATGGTAGTGATGATGGTGGTGATGGTGAT GATGGTGATGGTAGTGATGATGGTGGTGGTGGTGATGGTGGTCATGATGG TGATGGTGGTGATGGTGGTGACGGTGGTGGTGGTGATGGTGACGGTGGTC ATGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATGGTGATGATGATGGT GGCAATGGTGATGATGTGATGATGGTGGTGGTGATGATAGTGATGGCGAT GATGTGATGATGGTGGTGGTGGTGGTGATGGCGATGGTGATGATGGTGGT GATGATAGTGATGGCGATGATGTGATGATGGTGGTGGTGATGATAGTGAT GGCGATGATGTGATGGTGGTGGTGATAGTGATGGCGATGATGTGATGATG GTGGTGGTGGTGATGATAGTGATGGCGATGGTGATGGTGGTGGTGA	RPS21	ENSG00000171858.18	transcript	ENST00000343986.9	protein_coding		4824		chr20	TogoVar
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(923): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAG AAGAAAGGGGAGAAAGAGGAGGAAAAAGGAGGAGGAGAAGGAGGAGGAAG AGAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAAC AGGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGG AAGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGA GGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAA GGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAG AAGGCAGAGGAGGAGGAGGAGAAGAAAGAAGAGGAGGAGAAGGAAGAAGA GGAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGAGGAAGAGGAGAAAGAGG AGGAGGAGGAGGGGAAAGAAGAGGATAAGGAAGAAAGGGAAGAGGAGAGG GAAGAAGAGGAGGAGGAGGGGAAGAAAGAGGAGGAGGAGGAGGAGAAAAA GAGGAGGAGGAGGGGAAGGAAAAGAAGGAGGAGGAAAAGCAGGAGGAGAA GGAGGAGGAAGAGAAAAGGAGGAGGAGGGGAAGGAGGAGAAGGAGGAGGA ATGGGAGGAGGAGGAGAGAATAGAGGAGGAGGAGGGAATAGAGGAGGAGG AGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAG GAGGGGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGA GGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAA GGGAGGAGGAGGAGAGAAGGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0299 a0001c0002t0005g0299	1	42	0.0238	930	c.916 others(947): Show c.916+2583_916+2584insTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCCC CTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTC TCTCCTCCTCCTCTATTCCCTCCTCCTCCTCTATTCTCTCCTCCTCCTCC CATTCCTCCTCCTTCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCC TCCTTCTCCTCCTGCTTTTCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTC CTCTTTTTCTCCTCCTCCTCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTC TTCCCTCTCCTCTTCCCTTTCTTCCTTATCCTCTTCTTTCCCCTCCTCCT CCTCCTCTTTCTCCTCTTCCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCC TCCTCTTCTTCCTTCTCCTCCTCTTCTTTCTTCTCCTCCTCCTCCTCTGC CTTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTTCTTCTC CTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTCCTCCT CCTGTTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTTCTCCTCCTCCTTT TCTCTTCCTCCTCCTTCTCCTCCTCCTTTTTCCTCCTCTTTCTCCCCTTT CTTCTCCTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTCCTCCTTTTCTC TTCCTCCTCCTCCTCCTTTTCCTCCTCTTTCTCCTCTTCCTCCTCTTCCT TC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SLC6A12_chr12_185081_219157	197162	C C	CATCCATC others(923): Show CATCCATCCATCTATCCATCTATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCA TCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCTATCCATC CATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCTACCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATC CATCCATCCATCTATCCATCCATCCATCTATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATC TACCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCTA TCCATCCATCCATCCATCCATCCATCCATCATCCATCTACCATCCATCCA TCCATCTACCCATCCATCCATCCATCTATCCATCCATCCATCCATCTACC CATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCTATCCA TCTATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATC CATCTACCCATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCA TCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCTACCCATC CATCCATCCATCTACCCATCCATCCATCCATCCATCCATCTATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATCTATCCATCTATCCATCCA TCCATCCATCCATCCATCTATCCATCCATCT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0269 a0001c0004t0001g0269	1	273	0.0037	930	c.107 others(947): Show c.1075+214_1075+215insAGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGG ATGGATGGGTAGATGGATGGATGGATAGATGGATGGATGGATGGATGGAT GGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAG ATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT AGATGGATAGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGG ATGGGTAGATGGATGGATGGATGGATAGATGGATGGATGGATGGGTAGAT GGATGGATGGATGGTAGATGGATGATGGATGGATGGATGGATGGATGGAT GGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGG GTAGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATAGATGGATGGATGGATAGATGGATGG ATGGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGGT AGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGG ATGGATGGATAGATGGATGGATGGATGGATGGATAGATGGATGGATAGAT GGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATAGATGGATAGATGGATGG AT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar

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