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
TOLLIP_chr11_1269371_1314632	1287808	C C	CGCCGCAC others(842): Show CGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAG CCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCG CCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCACCGCCGCACCC TCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCACCGCC GCACCCTCCCCGCCGCAGCCTCACCGCCGCACCCTCCCCGCCGCAGCCTC ACCGCCGCACCCTCCCCGCCGCAGCCTCACCGCCGCACCCTCCCCGCCGC ACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCC CGCCGCAGCCTCCCCGCCGCACCCGCCGCAGCCTCCCCGCCGCACCCTCC CCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCACCGCCGCA CCCTCCCCGCCGCAGCCTCCCTGCCGCACCCTCCCCGCCGCAGCCTCCCC GCCGCACCCTCTCTGCTGCAGCCTCCCTGCCGCACCCTCTCTGCCGCAGC CTCCCCGCCGCACCCTCTCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGC CGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCT CTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCG CACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCC CCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCA GCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0266 a0001c0001t0029g0266	1	286	0.0035	849	c.519 others(864): Show c.519+815_519+816insAGAGAGGGTGCGGCGGGGAGGCTGCGGCAG AGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTG CGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGG AGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCG GCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAG GGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGC GGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCAGGGAGGC TGCAGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCAG GGAGGCTGCGGCGGGGAGGGTGCGGCGGTGAGGCTGCGGCGGGGAGGGTG CGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGT GCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGG GAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGTGAGGCTGC GGCGGGGAGGGTGCGGCGGTGAGGCTGCGGCGGGGAGGGTGCGGCGGTGA GGCTGCGGCGGGGAGGGTGCGGCGGTGAGGCTGCGGCGGGGAGGGTGCGG CGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGTGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCG GGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCT GCGGCGGGGAGGGTGCGGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287808	C C	CGCCGCAC others(842): Show CGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAG CCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCG CCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCC TCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCACCGCC GCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTC ACCGCCGCACCCTCCCCGCCGCAGCCTCACCGCCGCACCCTCCCCGCCGC AGCCTCACCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCC CGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAC CCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCA CCCTCCCCGCCGCAGCCTCACCGCCGCACCCTCCCCGCCGCAGCCTCCCT GCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCTCTGCTGCAGC CTCCCCGCCGCACCCTCTCCGCCGCAGCCTCCCCGCCGCACCCTCTCCGC CGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCT CTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCG CACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCC CCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCA GCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0228 a0001c0001t0004g0228	1	286	0.0035	849	c.519 others(864): Show c.519+815_519+816insAGAGAGGGTGCGGCGGGGAGGCTGCGGCAG AGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTG CGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGG AGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCG GCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAG GGTGCGGCGGGGAGGCTGCGGCGGAGAGGGTGCGGCGGGGAGGCTGCGGC GGAGAGGGTGCGGCGGGGAGGCTGCAGCAGAGAGGGTGCGGCGGGGAGGC TGCGGCGGGGAGGGTGCGGCAGGGAGGCTGCGGCGGGGAGGGTGCGGCGG TGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTG CGGCGGGGAGGCTGCGGCGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGT GCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGG GAGGGTGCGGCGGTGAGGCTGCGGCGGGGAGGGTGCGGCGGTGAGGCTGC GGCGGGGAGGGTGCGGCGGTGAGGCTGCGGCGGGGAGGGTGCGGCGGGGA GGCTGCGGCGGGGAGGGTGCGGCGGTGAGGCTGCGGCGGGGAGGGTGCGG CGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCG GGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCT GCGGCAGAGAGGGTGCGGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(842): Show TTATATCATCATATGATGATATACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATGATATGATACTATATCATCATATGAT GATATGATACTATATCATCATATGATGATATGATACTATATCATCATATG ATGATATGATACTATATCATCATATGATGATATGATACTATATCATCATA TGATGATATGATACTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATATACTATATCATCATATGATGATATGATATACTATA TCATCATATGATGATATGATATACTATATCATCATATGATGATATGATAT ACTATATCATCATATGATGATATGATATACTATATCATCATATGATGATA TGATATACTATATCATCATATGATGATATGATATACTATATCATCATATG ATGATATGATATACTATATCATCATATGATGATATGATATACTATATCAT CATATGATGATATGATATACTATATCATCATATGATGATATGATATACTA TATCATCATATGATGATATGATATACTATATCATCATATGATGATATGAT ATACTATATCATCATATGATGATATGATATACTATATCATCATATGATGA TATGATATACTATATCATCATATGATGATATGATATACTATATCATCATA TGATGATATGATATACTATATCATCATATGATGATATGATATACTATATC ATCATATGATGATATGATATACTATATCATCATATGATGATATGATATAC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0084 a0001c0002t0003g0084	1	98	0.0102	849	c.41- others(866): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATGATATGATACTATATCATCATATGAT GATATGATACTATATCATCATATGATGATATGATACTATATCATCATATG ATGATATGATACTATATCATCATATGATGATATGATACTATATCATCATA TGATGATATGATACTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATATACTATATCATCATATGATGATATGATATACTATA TCATCATATGATGATATGATATACTATATCATCATATGATGATATGATAT ACTATATCATCATATGATGATATGATATACTATATCATCATATGATGATA TGATATACTATATCATCATATGATGATATGATATACTATATCATCATATG ATGATATGATATACTATATCATCATATGATGATATGATATACTATATCAT CATATGATGATATGATATACTATATCATCATATGATGATATGATATACTA TATCATCATATGATGATATGATATACTATATCATCATATGATGATATGAT ATACTATATCATCATATGATGATATGATATACTATATCATCATATGATGA TATGATATACTATATCATCATATGATGATATGATATACTATATCATCATA TGATGATATGATATACTATATCATCATATGATGATATGATATACTATATC ATCATATGATGATATGATATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TUBGCP5_chr15_22994177_23044569	23040688	T T	TGGGGCCA others(842): Show TGGGGCCATCATAACCCAACCTGGCCAGAGGTGCTGGGGGGACATCTTAA CCTCACCTGGCCAGAGGTGCTAGGGGGATATCATAATCCCACCTGGCCAG AGATTCTGGGGGGACATCATAACCCCAGCTGGCCGGAGGTGCCGGGGGGC GGGGGGAACTTCATAACCCCACCTGGCCAGAGGTGCTGGGGGGACATCAT AACCTCACCTGGCCAGAGGTGCTAGGGGGTATCATAATCCCACCTGGCCA GAGATGCTGGGGGGCCATCATAACCCCACCTGGCCAGAGGTGCTGTGGGG CCATCATAACCCAACCTGGCCAGAGGTGCTGGGGGGACATCTTAACCTCA CCTGGCCAGAGGTGCTAGGGGGATATCATAATCCCACCTGGCCAGAGATT CTGGGGGGACATCATAACCCCAGCTGGCCGGAGGTGCCGGGGGGCGGGGG GAACTTCATAACCCCACCTGGCCAGAGGTGCTGGGGGGACATCATAACCT CACCTGGCCAGAGGTGCTAGGGGGTATCATAATCCCACCTGGCCAGAGAT GCTGGGGGGCCATCATAACCCCACCTGGCCAGAGGTGCTGTGGGGCCATC ATAACCCAACCTGGCCAGAGGTGCTGGGGGGACATCTTAACCTCACCTGG CCAGAGGTGCTAGGGGGATATCATAATCCCACCTGGCCAGAGATTCTGGG GGGACATCATAACCCCAGCTGGCCGGAGGTGCCGGGGGGCGGGGGGAACT TCATAACCCCACCTGGCCAGAGGTGCTGGGGGGACATCATAACCTCACCT GGCCAGAGGTGCTAGGGGGTATCATAATCCCACCTGGCCAGAGATTCTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03453.hp2 HG03098.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0197 a0001c0001t0001g0145 a0001c0001t0001g0197	2	342	0.0058	849	c.-11 others(860): Show c.-1146_-1145insCCAGAATCTCTGGCCAGGTGGGATTATGATACCC CCTAGCACCTCTGGCCAGGTGAGGTTATGATGTCCCCCCAGCACCTCTGG CCAGGTGGGGTTATGAAGTTCCCCCCGCCCCCCGGCACCTCCGGCCAGCT GGGGTTATGATGTCCCCCCAGAATCTCTGGCCAGGTGGGATTATGATATC CCCCTAGCACCTCTGGCCAGGTGAGGTTAAGATGTCCCCCCAGCACCTCT GGCCAGGTTGGGTTATGATGGCCCCACAGCACCTCTGGCCAGGTGGGGTT ATGATGGCCCCCCAGCATCTCTGGCCAGGTGGGATTATGATACCCCCTAG CACCTCTGGCCAGGTGAGGTTATGATGTCCCCCCAGCACCTCTGGCCAGG TGGGGTTATGAAGTTCCCCCCGCCCCCCGGCACCTCCGGCCAGCTGGGGT TATGATGTCCCCCCAGAATCTCTGGCCAGGTGGGATTATGATATCCCCCT AGCACCTCTGGCCAGGTGAGGTTAAGATGTCCCCCCAGCACCTCTGGCCA GGTTGGGTTATGATGGCCCCACAGCACCTCTGGCCAGGTGGGGTTATGAT GGCCCCCCAGCATCTCTGGCCAGGTGGGATTATGATACCCCCTAGCACCT CTGGCCAGGTGAGGTTATGATGTCCCCCCAGCACCTCTGGCCAGGTGGGG TTATGAAGTTCCCCCCGCCCCCCGGCACCTCCGGCCAGCTGGGGTTATGA TGTCCCCCCAGAATCTCTGGCCAGGTGGGATTATGATATCCCCCTAGCAC CTCTGGCCAGGTGAGGTTAAGATGTCCCCCCAGCACCTCTGGCCAGGTTG GGTTATGATGGCCCC	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		1120		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23043023	A A	AGGTGCCA others(842): Show AGGTGCCAGGAGGACTTCATAACCACACCTGGCCAGAGGTGCTGGGGGGA CATCATAACCTCACCTGGCCAGAGGTGCTGTGGGGGGGTATTATAACCCC ACCTGGCCAGAGGTGCTGGGGGGGTCATAATCCCACTTGGCCAGAGGTGC TGTGGGGCCATCATAACCCCAGCTGGCCGGAGGTGCCGGGGGGCGGGGGG AACTTCATAACCCCACCTGGCCAGAGTTGCTGGGGGTGACTTCATAAATG TCACCTGGCCAGAGGTGCTGCGGGGGATTTCATAACCCCACCTGGCCAGA GGTGCTGGGGGGACATCATAACCTCACCTGGCCAGAGGTGCTAGGGGATA TCATAATCCCACCTGGCCAGAGATGCTGGGGGGCCATCATAACCCCACCT GGCCAGAGGTGCTGGGGGTGACTTCATAAATGTCACCTGGCCAGAGGTGC TGGGGGGGATTTCATAACCCCACCTGGCCAGGGGTGCTGGGGGGACATCA TAACCTCACCTGGCCAGAGGTGCTGGGGGGTATCATAATCTGACCTGGTC AGAGATGCTGGGGGGACATCATAACCCCACCTGGCCAGAGGTGCTGTGGG GCCATCATAACCCCAGCTAGCCGGAAGTGCTGGGGGCTGGGGGAACTTCT TAACCCCACCTGGCTAGAGGTGCTAGGGGATATCATAATCCCACCTGGCC AGAGATGCTGGGGGGCCATCATAACCCCACCTGGCCAGCGGTGCTGTGGG GCCATCATAACCCCACCTGGCCAGAGGTGCTGGGGGTGACTTCATAAATG TCACCTGGCCAGAGGTGCTGGGGGGGATTTCATAACCCCACCTGGCCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	350	0.0029	849	c.-34 others(860): Show c.-3481_-3480insCCTGGCCAGGTGGGGTTATGAAATCCCCCCCAGC ACCTCTGGCCAGGTGACATTTATGAAGTCACCCCCAGCACCTCTGGCCAG GTGGGGTTATGATGGCCCCACAGCACCGCTGGCCAGGTGGGGTTATGATG GCCCCCCAGCATCTCTGGCCAGGTGGGATTATGATATCCCCTAGCACCTC TAGCCAGGTGGGGTTAAGAAGTTCCCCCAGCCCCCAGCACTTCCGGCTAG CTGGGGTTATGATGGCCCCACAGCACCTCTGGCCAGGTGGGGTTATGATG TCCCCCCAGCATCTCTGACCAGGTCAGATTATGATACCCCCCAGCACCTC TGGCCAGGTGAGGTTATGATGTCCCCCCAGCACCCCTGGCCAGGTGGGGT TATGAAATCCCCCCCAGCACCTCTGGCCAGGTGACATTTATGAAGTCACC CCCAGCACCTCTGGCCAGGTGGGGTTATGATGGCCCCCCAGCATCTCTGG CCAGGTGGGATTATGATATCCCCTAGCACCTCTGGCCAGGTGAGGTTATG ATGTCCCCCCAGCACCTCTGGCCAGGTGGGGTTATGAAATCCCCCGCAGC ACCTCTGGCCAGGTGACATTTATGAAGTCACCCCCAGCAACTCTGGCCAG GTGGGGTTATGAAGTTCCCCCCGCCCCCCGGCACCTCCGGCCAGCTGGGG TTATGATGGCCCCACAGCACCTCTGGCCAAGTGGGATTATGACCCCCCCA GCACCTCTGGCCAGGTGGGGTTATAATACCCCCCCACAGCACCTCTGGCC AGGTGAGGTTATGATGTCCCCCCAGCACCTCTGGCCAGGTGTGGTTATGA AGTCCTCCTGGCACC	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		3455		chr15	TogoVar
TWIST2_chr2_238843085_238915534	238870487	C C	CACACCAC others(842): Show CACACCACACCCCACACACACCACACCCCACACACACACCACACACCCCA CACACACCACACACACCACACCCCACACACACCACACCCCACACACACCA CACACCCCACACACACCACACACACCACACCCCACACACACCACACCCCA CACACACCACACACCCCACACACACCACACACACCACACCCCACACACAC CACACCCCACACACCCCACACACACCACACACCCCACACACACCACACAC ACCACACACCCACACACACCACACACACCACACACACCACACCCCACACA CACCACACCCCACACACACCACACCCCACACACACCACACACACCACACC CCACACACACCACACACACCACAGCCCACACACACCACACACACCACACC CCACACACACCACACACACCACACCCCACACACACCACACCCCACACACC CCACACACACCACACACCCCACACACACCACACACACCACACACCCCACA CACACCACACACCCCACACACACCACACACACCACACCCCACACACACCA CACCCCACACACACCACACACCCCACACACACCACACACACCACACCCCA CACACACCACACCCCACACACACCACACACACCACACCCCACACACACCA CACCCCACACACACCACACACCCCACACACACCACACACACCGCACCCCA CACACACCACACCCCACACACCCCACACACACCACACACCCCACACACCC CCCACACACCACACCCCACACACACCACACCCCACACACACCACACCCCA CACACACCACACACCCCACACACACCACACCCCACACACACCACACACCA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	291	0.0034	849	c.35 others(868): Show c.35+21754_*35+21755insACACCACACCCCACACACACCACACC CCACACACACACCACACACCCCACACACACCACACACACCACACCCCACA CACACCACACCCCACACACACCACACACCCCACACACACCACACACACCA CACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCA CACACACCACACCCCACACACACCACACCCCACACACCCCACACACACCA CACACCCCACACACACCACACACACCACACACCCACACACACCACACACA CCACACACACCACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACACACCACACCCCACACACACCACACACACCACAGCCC ACACACACCACACACACCACACCCCACACACACCACACACACCACACCCC ACACACACCACACCCCACACACCCCACACACACCACACACCCCACACACA CCACACACACCACACACCCCACACACACCACACACCCCACACACACCACA CACACCACACCCCACACACACCACACCCCACACACACCACACACCCCACA CACACCACACACACCACACCCCACACACACCACACCCCACACACACCACA CACACCACACCCCACACACACCACACCCCACACACACCACACACCCCACA CACACCACACACACCGCACCCCACACACACCACACCCCACACACCCCACA CACACCACACACCCCACACACCCCCCACACACCACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCCACACACACCACACACCA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
UMAD1_chr7_7635752_7884223	7679092	T T	TATAAATA others(842): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATT TATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGA TAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATAT TTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATAT ATATTTATATATTTAGTTTATAGATACATGTTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0189 a0001c0001t0011g0189	1	105	0.0095	849	c.82+ others(864): Show c.82+5644_82+5645insTATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATTTA TAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTAT ATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAA ATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTA GTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATACATGTTTATA TATTTAGTTTATAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679092	T T	TATAAATA others(842): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATT TATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGA TAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATAT TTAGTTTATAGATACATGTTTATATATTTAGTTTATAGATAAATATATAT TTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG01168.hp2 NA18959.hp1 NA18968.hp2 HG01168.hp2 NA18959.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0007 a0001c0002t0001 a0001c0001t0005 a0001c0001t0007 a0001c0002t0001	a0001c0001t0005g0024 a0001c0001t0007g0105 a0001c0002t0001g0196 a0001c0001t0005g0024 a0001c0001t0007g0105 a0001c0002t0001g0196	3	107	0.0280	849	c.82+ others(864): Show c.82+5644_82+5645insTATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATTTA TAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTAT ATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAA ATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTA GTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATACATGTTTATATATTTAGTTTAT AGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATA TATTTAGTTTATAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACTATA others(843): Show GTACTATATATATTTTATATATAGTATGTACTATATATATTTTATATATA GTATGTACTATATATATTTTATATATAGTATGTACTATATATATTTTATA TATAGTATGTACTATATATATTTTATATATAGTATGTACTATATATATTT TATATATAGTATATACATTGTATATACTATATATATATTTTATGTATAGT ATGTACATTGTATATACTATATATATATTTTATGTATATTATGTACTATA TATATTTTATACATAGTATATACACTGTATATACTATATATATTTTATAC ATAGTATATACACTGTATATACTATATATATTTTATACATAGTATATACA CTGTATATACTATATATATTTTATACATAGTATATACACTGTATATACTA TATATATTTTATACATAGTATATACACTGTATATACTATATATATTTTAT ACATAGTATATACACTGTATATACTATATATATTTTATACATAGTATATA CACTGTATATACTATATATATTTTATACATAGTATATACACTGTATATAC TATATATATTTTATACATAGTATATACAGTGTATATACTATATATATTTT ATACATAGTATATACACTGTATATACTATATATATTTTATACATAGTATA TACACTGTATATACTATATATATTTTATACATAGTATATACACTGTATAT ACTATATATATTTTATACATAGTATATACACTGTATATACTATATATATT TTATACATAGTATATATACTGTATATACTATATATATTTTATATATAGTA TATATACTGTATATACTATATATATTTTATATATAGTATATATACTGTAT A	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	30	0.0333	850	c.505 others(869): Show c.505-41258_505-41257insTATACAGTATATATACTATATATAAA ATATATATAGTATATACAGTATATATACTATATATAAAATATATATAGTA TATACAGTATATATACTATGTATAAAATATATATAGTATATACAGTGTAT ATACTATGTATAAAATATATATAGTATATACAGTGTATATACTATGTATA AAATATATATAGTATATACAGTGTATATACTATGTATAAAATATATATAG TATATACAGTGTATATACTATGTATAAAATATATATAGTATATACACTGT ATATACTATGTATAAAATATATATAGTATATACAGTGTATATACTATGTA TAAAATATATATAGTATATACAGTGTATATACTATGTATAAAATATATAT AGTATATACAGTGTATATACTATGTATAAAATATATATAGTATATACAGT GTATATACTATGTATAAAATATATATAGTATATACAGTGTATATACTATG TATAAAATATATATAGTATATACAGTGTATATACTATGTATAAAATATAT ATAGTATATACAGTGTATATACTATGTATAAAATATATATAGTATATACA GTGTATATACTATGTATAAAATATATATAGTACATAATATACATAAAATA TATATATAGTATATACAATGTACATACTATACATAAAATATATATATAGT ATATACAATGTATATACTATATATAAAATATATATAGTACATACTATATA TAAAATATATATAGTACATACTATATATAAAATATATATAGTACATACTA TATATAAAATATATATAGTACATACTATATATAAAATATATATAGTACAT ACTATATATAAAATATATATAGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
AHRR_chr5_316714_443285	415440	C C	CTGCTGGG others(843): Show CTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAG GGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTG GTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCT AGGGGCCGAATCTGCCTGGTCGGCTGGGAGGCCTAGGGGCCGAATCTGCC TGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGC CTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTC CCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCTGCTGGGAG GCCTAGGGGCCGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATC TGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGCGGG AGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAG TCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCG GGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCG AGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGG TGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGC CGAGTCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCG GGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGG GCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGT G	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0087 a0001c0001t0005g0087	1	192	0.0052	850	c.441 others(867): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTCC CTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGG CCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCT GCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGCTGGGA GGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGT CTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGG GAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGA GTCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGT GGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCC GAGTCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGG GCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGG CCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTC GGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGG GGCCGAATCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGG TCGGGTGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGCGGGAGGCCTA GGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCT GGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCC TAGGGGCCGAATCTGCCTGGTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10			chr5	TogoVar
AHRR_chr5_316714_443285	415440	C C	CTGCTGGG others(843): Show CTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGTGGGAGGCCTAG GGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTG GTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCT AGGGGCCGAATCTGCCTGGTCGGCTGGGAGGCCTAGGGGCCGAATCTGCC TGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGC CTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTC CCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCTGCTGGGAG GCCTAGGGGCCGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATC TGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGTGGG AGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAA TCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCG GGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCG AGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGG TGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGC CGAGTCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCG GGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGG GCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGT G	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0083 a0001c0010t0005g0083	1	192	0.0052	850	c.441 others(867): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTCC CTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGG CCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCT GCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGCTGGGA GGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGT CTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGG GAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGA GTCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGT GGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCC GAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGG GTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGTGGGAGGCCTAGGGG CCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTC GGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGG GGCCGAATCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGG TCGGGTGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGCGGGAGGCCTA GGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCT GGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCC TAGGGGCCGAATCTGCCTGGTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10			chr5	TogoVar
ARHGAP39_chr8_144524179_144690846	144531191	A A	AGAGCAGC others(843): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAGGGCACAGGGCAGCAAGCAGCAGGTGGGGAGT GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA GCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACA GCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCA CGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGG CACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGA CATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAG TGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCA GGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAG G	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0246 a0001c0002t0023g0246	1	145	0.0069	850	c.298 others(867): Show c.2981-321_2981-320insCCTGCCCTGTGCCCTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTG CCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGT GCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCG CTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCC CACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAG CCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCT AGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCT GCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCT GCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTG TGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTC GCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCAC CTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCC ACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTGTGTCCAGTCCACACC CCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTA GCCCACTCCCCACCTGCTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049950	T T	TGGGGGGC others(843): Show TGGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAACACATGGGGGGCA GAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAA CACATGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAATACATGGAG GGCAGAGGAGAACACATGGGGGGCAGAGGGGAATACATGGGGGGCAGAGG AGAACACATGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACATG GGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGGCAG AGGGGAACACATGGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAACAC ATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGG CAGAGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGA ATACATGGGGGGCAGAGGAGAACACATGGAGGGCAGAGGAGAACACATGG GGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACATGGGGGCAGAG GGGAATACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACA TGGGGGGCAGAGGAGAACACATGGAGGGCAGAGGAGAACACATGGGGGGC AGAGGAGAACACATGGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAA TACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGG GGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGG AGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACAT G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0099 a0002c0002t0001g0099	1	276	0.0036	850	c.47 others(861): Show c.4780_*4781insCATGTGTTCTCCTCTGCCCCCCATGTATTCCCCT CTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCTCTGCCCCCC ATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCT CCTCTGCCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCCCCTCTGCCC CCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCTCCATGTG TTCTCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCTCCTCT GCCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCCCCAT GTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCTCCATGTGTTCTC CTCTGCCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCC CCATGTGTTCCCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGT TCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCATGTGTTCTCCTCTG CCCCCATGTGTTCCCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATG TATTCCCCTCTGCCCCCCATGTGTTCCCCTCTGCCCCCATGTGTTCTCCT CTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCC ATGTGTTCTCCTCTGCCCTCCATGTATTCTCCTCTGCCCCCCATGTGTTC TCCTCTGCCCCCATGTGTTCCCCTCTGCCCCCCATGTGTTCTCCTCTGCC CCCCATGTATTCCCCTCTGCCCCCCATGTGTTCCCCTCTGCCCCCATGTG TTCCCCTCTGCCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2153		chr8	TogoVar
ASAP2_chr2_9201812_9410678	9400249	T T	TTCCCCTC others(843): Show TTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTT CCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCC CCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCC CTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCT GCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGC CCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCT CCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTG CCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCTCCTGCC CCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTC CTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCTCC CCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCC CTTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCACCTTCCCTCC TGCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTTCTGCCCTCCTGC CCCCCTCCCCTCCTGTACCCCTCCCCCCTCCCCTCCTGTACCCCTCCCCC CTCCTGCCCCCTCCCCTCCTGCCCCCTGCCCCCCTCCCCTCCTGCCCCCT CCCTTCCTACCCCCTCCCCTCCTGCCCCCTCCCCTCCTCCCCTCATGCCC TCCTGCCCCCTCCCCTCCTGCCCCCCCTCCCCTCCTCCCCTCCTGCCCCC C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01261.hp1 HG01070.hp2 HG01071.hp2 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058	3	74	0.0405	850	c.273 others(867): Show c.2734+190_2734+191insCCTTCCCCTCCTGCCCCCTTCCCCTCCT GCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCC CTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCT CCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTT CCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCC CCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCC CTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTC CCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCC CTCCTGCCCCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTC CTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTG CCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCC TCCTGCCCCTTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCACC TTCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTTCTGC CCTCCTGCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCCCTCCTGTACC CCTCCCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTGCCCCCCTCCCCTCC TGCCCCCTCCCTTCCTACCCCCTCCCCTCCTGCCCCCTCCCCTCCTCCCC TCATGCCCTCCTGCCCCCTCCCCTCCTGCCCCCCCTCCCCTCCTCCCCTC CTGCCCCCCTCCCCTCCTGCCC	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	25/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(843): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTAG TCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCCA GGAGGCTGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCCAGCCTG GTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTAAAAAAAA AAAAAAAATACATATATATATATATATATATATATTTAAAATTCCTTGTA AAAAGTGGCTGGGCGTGGTGGCCCACACCTGTAATCCCAGCACTTTGGGA GGCCAAAGGAGGCCAATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGC C	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA18969.hp1 NA18980.hp2 HG06807.hp2 NA18969.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0003g0241 a0001c0001t0005g0211 a0001c0001t0006g0216 a0001c0001t0003g0241 a0001c0001t0005g0211 a0001c0001t0006g0216	3	29	0.1034	850	c.94+ others(865): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATATATATATGTATTTTTTTTTTTTTTTTAATATATATTCTTTTTTTTTA AACGGAGTCTCACTCTGTTACCAGGCTGGAGTGCAGTGGCACCATCTTGG CTCACTGCAACCTCAGCCTCCTGGGTTCAAGCAATTCTGCCTCAGGAGGG AGAGGCAGGGACTAGGTGGGACTACAGGCACACGCCTGGCTAATTTTTTT TTTTTTTTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGCCCAGG CTGGTCTCCAACTCTTGAGCTCAGGGAAGTCTGCCCGCCTCGGCCTCCCA AAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCCAGCCGATAAATATAT TTTTAAAGTAGCAAACCAATCATTATGGGAAAGAATCGGTAATTTGGTTG ACTTCTGCACCGTTATTTTATAGCTAAGTATTGTATTTATTTTTGTTTCC ACATGGGAGAGAGGCACCAGCCACTATTCACTGTTCAGGGTTTCTTTTTC TTTTCTTTTTTCTTTTTTATTTTTGAGACAGTGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCACGATCTCGGTTCACTGCAAGCTCCGCCTCTCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCCGCCACCACGCCCGGCTAATTTTTTTTTTTTTGTATTTTTTAGTAG AGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(843): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTAG TCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCCA GGAGGCTGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCTG GTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTAAAAAAAA AAAAAAAATACATATATATATATATATATATATATTTAAAATTCCTTGTA AAAAGTGGCTGGGCGTGGTGGCCCACACCTGTAATCCCAGCACTTTGGGA GGCCAAAGGAGGCCAATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGC C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0222 a0001c0001t0006g0222	1	27	0.0370	850	c.94+ others(865): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATATATATATGTATTTTTTTTTTTTTTTTAATATATATTCTTTTTTTTTA AACGGAGTCTCACTCTGTTACCAGGCTGGAGTGCAGTGGCACCATCTCGG CTCACTGCAACCTCAGCCTCCTGGGTTCAAGCAATTCTGCCTCAGGAGGG AGAGGCAGGGACTAGGTGGGACTACAGGCACACGCCTGGCTAATTTTTTT TTTTTTTTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGCCCAGG CTGGTCTCCAACTCTTGAGCTCAGGGAAGTCTGCCCGCCTCGGCCTCCCA AAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCCAGCCGATAAATATAT TTTTAAAGTAGCAAACCAATCATTATGGGAAAGAATCGGTAATTTGGTTG ACTTCTGCACCGTTATTTTATAGCTAAGTATTGTATTTATTTTTGTTTCC ACATGGGAGAGAGGCACCAGCCACTATTCACTGTTCAGGGTTTCTTTTTC TTTTCTTTTTTCTTTTTTATTTTTGAGACAGTGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCACGATCTCGGTTCACTGCAAGCTCCGCCTCTCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCCGCCACCACGCCCGGCTAATTTTTTTTTTTTTGTATTTTTTAGTAG AGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCC others(843): Show TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC AGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGC CCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	223	0.0045	850	c.36 others(861): Show c.3604_*3605insGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCT CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCT CCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCT others(843): Show TGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCTGGCAGAGCCAGC CCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0001 a0008c0011t0001g0001	1	223	0.0045	850	c.36 others(861): Show c.3604_*3605insGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCT CCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCT others(843): Show TGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGG CAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	223	0.0045	850	c.36 others(861): Show c.3604_*3605insGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGT GCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835488	A A	AGCCCCCA others(843): Show AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCAC CCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG GCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	299	0.0033	850	c.36 others(861): Show c.3611_*3612insGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCC TCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3471		chr19	TogoVar
C8orf82_chr8_144520733_144534111	144531191	A A	AGAGCAGC others(843): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAGGGCACAGGGCAGCAAGCAGCAGGTGGGGAGT GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA GCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACA GCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCA CGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGG CACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGA CATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAG TGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCA GGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAG G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	235	0.0043	850	c.-22 others(861): Show c.-2276_-2275insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATG TCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTG CCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTGTGCCCT TCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCC CTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTG CTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGC TGCTCGCTGCCTTTCTGCCGTGCCTGCTGTGTCCAGTCCACACCCCACCT GCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCAC TCCCCACCTGCTGCTC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2081		chr8	TogoVar
CALN1_chr7_71774491_72417338	72209170	T T	TTCCTTCC others(843): Show TTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTTTCCCTCCTTCC CTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTT CCGTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCC TTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTT CCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCC CTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCT CCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCC TTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTT CCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCC CTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTT CCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCC TTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCT CTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCC TTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTT CCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCC TTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTT CCTTCCCTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCC C	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0007 a0001c0001t0006g0007	1	127	0.0079	850	c.244 others(869): Show c.244+69515_244+69516insGGGAAGGAAGGAGGGAAGGAGGGAAG GAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAAGAGGGAAGGA GGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAG GAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGA GGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGG GAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGA AGGAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAA GAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGA AGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAG GAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGA GGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAAGGAAGGAGG GAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGACGGAAGGA AGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAAGAGGGAAG GAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAGGA GGGAAGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGG GAAGGAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGA AAGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAAGGGAAGGAGGGA AGGAAAGAGGGAAGGAGGGAAGGA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCCTC others(843): Show CCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCTCCCCTCCCCTCCCCTCC CCTCCCCCCTCCCCCTCCCCTCCCCCCCCTCCCCCCCTCCCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCCCCTCCCCTCCCCT CCCCCCCCTCCCCCTCCCCTCCCCCTCCCCCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCT CCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCT CCCCCCCCTCCCCCCCCCTCCCCCCCCCCTCCCCCTCCCCTCCCCCCCCT CCCCCCTCCCCCCCCCCCTCCCCTCCCCCCTCCCTCCCCCCCTCCCCCCC CTCCCCCCCCCTCCCCCTCCCCCTCCCCCCCCCCCTCCCCTCCCCCTCCC CCCCCCTCCCCCCCCTCCCCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCC CCCCCTCCCCTCCCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCCCCCTCC CCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCC TCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCT CCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCC CCCTCCCCTCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCC T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0015 a0001c0001t0023g0015	1	12	0.0833	850	c.-45 others(871): Show c.-455+14579_-455+14580insCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCC TCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCC TCCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCCCCCTCCCCTCCCCTCCCCCCCCTCCCCCTCCCCTCCCCCTCCC CCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCC CCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCC CCTCCCCTCCCCCCTCCCCCTCCCCCCCCTCCCCCCCCCTCCCCCCCCCC TCCCCCTCCCCTCCCCCCCCTCCCCCCTCCCCCCCCCCCTCCCCTCCCCC CTCCCTCCCCCCCTCCCCCCCCTCCCCCCCCCTCCCCCTCCCCCTCCCCC CCCCCCTCCCCTCCCCCTCCCCCCCCCTCCCCCCCCTCCCCCCCCCTCCC CCCCTCCCCTCCCCCCTCCCCCCCCCTCCCCTCCCCCCTCCCCCCCCTCC CCTCCCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCC CCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCC CCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCT CCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCTTCCCCTCCTCT CCCCTCCCCTCCCCTCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP61_chr20_20047532_20365698	20337583	T T	TAGATGGA others(843): Show TAGATGGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATAGATGGGTGGATGGATGGATAGATGGGTGGGTGGATGGA TGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATG GATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGA TGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATG GGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGA TGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTG GATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGA TAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATG GATGGATGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGA TAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGA TGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATG GATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGA TGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATG GATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGA TGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATG G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0175 a0001c0003t0003g0175	1	4	0.2500	850	c.342 others(869): Show c.3423-4248_3423-4247insAGATGGATAGATGGGTGGGTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGGTGGATGGAT GGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGG GTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGAT GGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGG GTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGAT GGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGG ATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGT GGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGG ATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGATAGAT GGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATAGATGGGT GGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAG ATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGT GGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAG ATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGAT GGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGG ATGGATGGATAGATGGATAGATGG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26			chr20	TogoVar
CFAP61_chr20_20047532_20365698	20337583	T T	TGGATAGA others(843): Show TGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATAGATGGGTGGATGGATGGATAGATGGGTGGGTGGA TGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATA GATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGA TGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATA GATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGA TGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTG GGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGA TGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATG GATGGATGGATGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGA TGGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGA TGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATG GATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGA TGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATG GATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGA TGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATG G	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	4	0.2500	850	c.342 others(869): Show c.3423-4247_3423-4246insGATAGATGGATAGATGGGTGGGTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGGTGGATG GATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGG TGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATG GATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGG TGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATA GATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGA TGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTG GGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGA TGGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGATA GATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATAGATGGGTG GGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGA TGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTG GGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGA TGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATG GATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGA TGGATGGATAGATGGATAGATGGG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(843): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACC TCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCC CTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCT CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCT CCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCT TTCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTC C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0214 a0001c0002t0006g0214	1	2	0.5000	850	c.162 others(871): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTC CACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTTCCTCCCCCT CCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCC CTCTTCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCC TCCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTC CCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCCTTCCTCTT CCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL18A1_chr21_45400165_45518720	45500731	G G	GGTGTGTG others(843): Show GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGG GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTCGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG GGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGATTGGTG TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTTTGTTGGGTGTGTAGTGTG GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG GTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG04228.hp1 NA18964.hp2 others(7): Show HG00544.hp1 HG04228.hp1 NA18964.hp2 NA18969.hp1 NA18975.hp1 NA18983.hp1 NA18999.hp1 NA19007.hp2 NA19088.hp2 NA20905.hp2	a0001 a0001	a0001c0009 a0001c0010 a0001c0015 others(2): Show a0001c0009 a0001c0010 a0001c0015 a0001c0043 a0001c0045	a0001c0009t0001 a0001c0010t0002 a0001c0015t0001 others(2): Show a0001c0009t0001 a0001c0010t0002 a0001c0015t0001 a0001c0043t0006 a0001c0045t0001	a0001c0009t0001g0022 a0001c0009t0001g0127 a0001c0009t0001g0151 others(7): Show a0001c0009t0001g0022 a0001c0009t0001g0127 a0001c0009t0001g0151 a0001c0009t0001g0247 a0001c0010t0002g0152 a0001c0015t0001g0128 a0001c0015t0001g0172 a0001c0015t0001g0202 a0001c0043t0006g0245 a0001c0045t0001g0047	10	177	0.0565	850	c.268 others(869): Show c.2683+3076_2683+3077insGTGTGTTGGGTGTGTAGTGTGGGGGT GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT GTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG TGTGTTGGGTGTGTAGTGTGGGGGTGTCGTTTGGTGTGTGTTGGGTGTGT AGTGTGGGGGTGTGGTTTGGTGTGTTGGGGGTGTGGTTTGGTGTGTGTGT GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTAT GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGT GGGGGTGTGGATTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTTT GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG GGGTGTGGTTTGGTGTGTGTGTGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL4A1_chr13_110143963_110312157	110255668	C C	CAGGCAGG others(843): Show CAGGCAGGAAGGGAAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCA GGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGG AGGGGGCAGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGAGGA AGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGG AGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGG AAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAG GGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAA GAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGG AAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAA GGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGA AGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG AAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAG GGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGG A	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	273	0.0037	850	c.85- others(867): Show c.85-12935_85-12934insTCCCCCTCCCTTCCTGCCTTTCCCCTCC CTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT TCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCC CCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCT TCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCC TTCCCCCTTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCC CTTCCTGCCTTCCCCCTCCCTTCTTGCCTTCCCCCTCCCTTCCTGCCTTC CCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTT CCTGCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCT GCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTGCCCCCTTCCCT TCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCC CCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCTCCTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCC TGCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGC CTGCCCCCTTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CTDP1_chr18_79674803_79759503	79691731	G G	GGGGGAGG others(843): Show GGGGGAGGAGTGGACAGCTCCCTGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGG GTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTG GACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGG GTGGACTCGGGGTGGGAGAAGAGTGGACGGCTCCCAGGGTGGACTCGGGG T	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0164 a0001c0001t0004g0164	1	307	0.0033	850	c.315 others(867): Show c.315-3480_315-3479insAGCTCCCTGGGTGGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGG GAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGG GAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGG GAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGG GAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGG ACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGG AGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGGC TCCCAGGGTGGACTCGGGGTGGGAGAAGAGTGGACGGCTCCCAGGGTGGA CTCGGGGTGGGGAGGAGTGGAC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(843): Show CGAGACCAGCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCAGCGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAAA CAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAAC AGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTAA TTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAATA TTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGATGT TTTACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGAT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG02809.hp2 others(3): Show HG02622.hp2 HG02630.hp2 HG02809.hp2 HG03130.hp2 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0025 a0001c0001t0011 a0001c0001t0025	a0001c0001t0011g0005 a0001c0001t0025g0005 a0001c0001t0011g0005 a0001c0001t0025g0005	6	7	0.8571	850	c.-51 others(861): Show c.-5108_-5107insGAGACCAGCCTGGCTAACACGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CAGCGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAGAAAATAATAATAATAATA ATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAAA CTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCAC TACTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAATC TCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAG TGGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCAC GCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTT CTTTTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACCG TGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATC ATGAGGGCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(843): Show CGAGACCAGCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGAGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAA ACAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAA CAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTA ATTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAAT ATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGATGT TTTACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGAT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00639.hp2 HG02015.hp2 others(4): Show HG00558.hp1 HG00639.hp2 HG02015.hp2 HG02145.hp1 NA18988.hp2 NA18993.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0020 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0020 a0001c0001t0035	a0001c0001t0001g0181 a0001c0001t0003g0002 a0001c0001t0003g0008 others(3): Show a0001c0001t0001g0181 a0001c0001t0003g0002 a0001c0001t0003g0008 a0001c0001t0003g0016 a0001c0001t0020g0002 a0001c0001t0035g0040	7	8	0.8750	850	c.-51 others(861): Show c.-5108_-5107insGAGACCAGCCTGGCTAACACGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGAGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAAGAAAATAATAATAATAAT AATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAA ACTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCA CTACTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAAT CTCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAG TGGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCAC GCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTT CTTTTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACCG TGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATC ATGAGGGCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(843): Show CGAGACCAGCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGAGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAAA CAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAAC AGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTAA TTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAATA TTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGATGT TTTACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGAT T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18961.hp2 NA18939.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0106 a0001c0001t0007g0125 a0001c0001t0003g0106 a0001c0001t0007g0125	2	3	0.6667	850	c.-51 others(861): Show c.-5108_-5107insGAGACCAGCCTGGCTAACACGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGAGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAGAAAATAATAATAATAATA ATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAAA CTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCAC TACTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAATC TCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAG TGGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCAC GCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTT CTTTTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACCG TGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATC ATGAGGGCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(843): Show CGAGACCAGCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGCGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAAA CAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAAC AGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTAA TTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAATA TTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGATGT TTTACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGAT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00733.hp1 HG01255.hp2 others(18): Show HG00323.hp2 HG00733.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01884.hp2 HG01978.hp2 HG01981.hp2 HG02257.hp1 HG02572.hp1 HG02647.hp1 HG02717.hp2 HG02886.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03209.hp2 HG03486.hp1 HG03579.hp1 NA18964.hp2 NA19043.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0012 a0004c0009 a0001c0001 a0001c0012 a0004c0009	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0041 a0001c0012t0001 a0004c0009t0012	a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0037 others(10): Show a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0037 a0001c0001t0001g0138 a0001c0001t0006g0007 a0001c0001t0009g0162 a0001c0001t0010g0005 a0001c0001t0010g0055 a0001c0001t0010g0182 a0001c0001t0012g0019 a0001c0001t0041g0005 a0001c0012t0001g0091 a0004c0009t0012g0019	21	22	0.9545	850	c.-51 others(861): Show c.-5108_-5107insGAGACCAGCCTGGCTAACACGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGCGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAGAAAATAATAATAATAATA ATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAAA CTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCAC TACTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAATC TCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAG TGGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCAC GCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTT CTTTTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACCG TGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATC ATGAGGGCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
DGCR8_chr22_20075241_20116872	20075574	G G	GGTGAAAC others(843): Show GGTGAAACCCTGTCTCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTG GTGGGCGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGC ATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGACTGTGCCATTGCAC TCCAGCCTGGGCGACAGAACGAGACTCTGTCTCAAAAAAAAAAAAAGAAA ATAATAATAATAATAATATTAAAAGGTAAACAGAAATCTTCATAATCTCA AATACTGTAAGAAAACTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGT TCTGCATCATAGCACTACTAATAAAGCTAATTTTAACAAAACCTTATAAA TGAATCCATCCAATCTCACGCAAGATAATATTTCTTTTCCAAGATTTCTT TTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCC CAGGCTGGAGTGTAGTGGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCACTACCACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCGCCGGCCAGATTCTTTTCTATAGATGTTTTACAACTTAAAAAAAATA TCTGGCCGGGCACCGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGTGGATCATGAGGGCAGGAGATTGAGACCAGCCTGGCTAACA C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	418	0.0024	850	c.-50 others(861): Show c.-5087_-5086insGTGAAACCCTGTCTCTACTAAAAATATAAAAAAT TAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATTGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAG ACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTGTCTCAA AAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAAACAGAA ATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAACAGAGA AGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTAATTTTA ACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAATATTTCT TTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCGCCGGCCAGATTCTTTTCTATAGATGTTTTAC AACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGATTGAGA CCAGCCTGGCTAACAC	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4666		chr22	TogoVar
DGKB_chr7_14140049_14907751	14471356	A A	AATATGTG others(843): Show AATATGTGTATACATACATATATGTATGGAATATATGTGTATACATACAT ATATGTATGGAATATATGTGTATACATACATATATGTATGGAATATATGT GTATACATACATATATGTATGGAATATATGTGTATACATACATATATGTG TGTATATATGTGTATACATACATATATGTGTGTATATATGTGTATACATA CATATATGTGTGTATATATGTGTATATATACATATATGTGTGTATATATA CATATATGTGTGTATATGTGTGTATACATACATATATGTGTGTATATGCG TGTATATATGTGTATACACACATATGCGCGTGTATATATGTGTATACACA CATATGCGCGTGTATATATGTGTATACACACATATGCGCGTGTATATATG TGTATACACACATATGCGCGTGTATATATGTGTATACACACATATGCGCG TGTATATGTGTGTATACACACATATGCGCGTGTATATGTGTGTATACACA CATATGCGCGTGTATATGTGTGTATACACATATGCGCGTGTATATGTGTG TATACACATATGCGCGTGTATATGTGTGTATACACATATGCGTGTGTATA TGTGTGTATATACATATGCGTGTGTATATGTGTGTATATACATATGCGTG TGTATATGTGTGTATATACATATGCGTGTGTATATGTGTGTATATACATA TGCGTGTGTATATGTGTGTATATACATATGCGTGTGTATATGTGTGTATA TACATATATATGAGTGTATATATGTGTATATATACATATATATGCGTGTA TATATACGTATATATGCATGTATATATGTGTATACATACATATATGCATG T	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	76	0.0132	850	c.183 others(869): Show c.1835+6804_1835+6805insACATGCATATATGTATGTATACACAT ATATACATGCATATATACGTATATATACACGCATATATATGTATATATAC ACATATATACACTCATATATATGTATATACACACATATACACACGCATAT GTATATACACACATATACACACGCATATGTATATACACACATATACACAC GCATATGTATATACACACATATACACACGCATATGTATATACACACATAT ACACACGCATATGTATATACACACATATACACACGCATATGTGTATACAC ACATATACACGCGCATATGTGTATACACACATATACACGCGCATATGTGT ATACACACATATACACGCGCATATGTGTGTATACACACATATACACGCGC ATATGTGTGTATACACACATATACACGCGCATATGTGTGTATACACATAT ATACACGCGCATATGTGTGTATACACATATATACACGCGCATATGTGTGT ATACACATATATACACGCGCATATGTGTGTATACACATATATACACGCGC ATATGTGTGTATACACATATATACACGCATATACACACATATATGTATGT ATACACACATATACACACATATATGTATATATACACACATATATGTATAT ATACACATATATACACACATATATGTATGTATACACATATATACACACAT ATATGTATGTATACACATATATACACACATATATGTATGTATACACATAT ATTCCATACATATATGTATGTATACACATATATTCCATACATATATGTAT GTATACACATATATTCCATACATATATGTATGTATACACATATATTCCAT ACATATATGTATGTATACACATAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
DPEP1_chr16_89608642_89643433	89619039	T T	TGCTCCCC others(843): Show TGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCCGCTTCCCC TCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCC CCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGC CCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCC CTCCCTGCAGCTCCATGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGC AGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCT CCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTG ACCCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCCCG CTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCC TGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCGCTCCCCTCCCT GCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTG CTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCC CTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTC CCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCC C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	155	0.0065	850	c.-10 others(869): Show c.-107+5337_-107+5338insTCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCCGC TTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCC TGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCC TGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCT GCTCCCCTCCCTGCAGCTCCATGCCCCCCCTGCTCCCCTCCCTGCAGCCC CCTGCCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCT CCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCC CCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGC CCCCTGACCCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCCCGCTCCCC TCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCC CCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCA GCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCGCTCCC CTCCCTGCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCA GCCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCT CCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTG CTCCCCCGCTCCCCTCCCTGCAGC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EXOC2_chr6_480154_698139	520426	C C	CCACCGAG others(843): Show CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	230	0.0043	850	c.238 others(871): Show c.2380+12042_2380+12043insCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	520545	A A	ACCGTCCA others(843): Show ACCGTCCACACTCGGAGACGAGAACCACCACGCACCGAGCGCCGACACTC ACCGTCCACACTCGGAGACGAGAACCACCACCCACCGAGCGCCGACACTC ACCGTCCACACTCGGAGACGAGAACCACCACCCACCGAGCGCCGACACTC ACCGTCCACACTCGGAGACGAGAACCACCACCCACCGAGCGCCGACACTC ACCGTCCACACTCGGAGACGAGAACCACCACCCACCGAGCGCCGACACTC ACCGTCCACACTCGGAGACGAGAACCACCACGCACCGAGCGCCGACACTC ACCGTCCACACTCGGAGACGAGAACCACCACCCACCGAGCGCCGACACTC ACCGTCCACACTCGGAGACGAGAACCACCACCCACCGAGCGCCGACACTC ACCGTCCACACTCGGAGACGAGAACCACCACCCACCGAGCGCCGACACTC ACCGTCCACACTCGGAGACGAGAACCACCACCCACCGAGCGCCGACACTC ACCGTCCACACTCGGAGACGAGAACCACCACGCACCGAGCGCCGACACTC ACCGTCCACACTCGGAGACGAGAACCACCACGCACCGAGCGCCGACACTC ACCGTCCACACTCGGAGACGAGAACCACCACGCACCGAGCGCCGACACTC GCCGTCCACACTCGGAGACGAGAACCACCACCCACCGAGCGCCGACACTC GCCGTCCACACTCGGAGACGAGAACCACCACCCACCGAGCGCCGACACTC GCCGTCCACACTCGGAGACGAGAACCACCACGCACCGAGCGCCGACACTC GCCGTCCACACTCGGAGACGAGAACCACCACGCACCGAGCGCCGACACTC G	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0033 a0001c0001t0006g0033	1	268	0.0037	850	c.238 others(871): Show c.2380+11923_2380+11924insCGAGTGTCGGCGCTCGGTGCGTGG TGGTTCTCGTCTCCGAGTGTGGACGGCGAGTGTCGGCGCTCGGTGCGTGG TGGTTCTCGTCTCCGAGTGTGGACGGCGAGTGTCGGCGCTCGGTGGGTGG TGGTTCTCGTCTCCGAGTGTGGACGGCGAGTGTCGGCGCTCGGTGGGTGG TGGTTCTCGTCTCCGAGTGTGGACGGCGAGTGTCGGCGCTCGGTGCGTGG TGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGTCGGCGCTCGGTGCGTGG TGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGTCGGCGCTCGGTGCGTGG TGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGTCGGCGCTCGGTGGGTGG TGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGTCGGCGCTCGGTGGGTGG TGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGTCGGCGCTCGGTGGGTGG TGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGTCGGCGCTCGGTGGGTGG TGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGTCGGCGCTCGGTGCGTGG TGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGTCGGCGCTCGGTGGGTGG TGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGTCGGCGCTCGGTGGGTGG TGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGTCGGCGCTCGGTGGGTGG TGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGTCGGCGCTCGGTGGGTGG TGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGTCGGCGCTCGGTGCGTGG TGGTTCTCGTCTCCGAGTGTGGACGG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	520576	C C	CCACCGAG others(843): Show CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC G	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0206 a0001c0003t0001g0206	1	223	0.0045	850	c.238 others(871): Show c.2380+11892_2380+11893insCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
FBXO47_chr17_38931432_38972403	38946669	T T	TATATATA others(843): Show TATATATAAATATATAAATATATAAATAAAAATATATAAAAATATATACA TATATAAATATAAATATATAATATATAAATATATAAATATATAAATATAT AAATATAAATATATAAAAATATATAAATATATAAAAATATATAAATATAT AAAAATATATAAATATATAAATATATATAAATATATAAATATATAAATAT ATATAAATATATAAATATATAAATATATAAATATATATAAATATATAAAT ATATAAATATATAAAAATATATAAATACATAAATATATAAATATATAAAT ATATAAATATATAAATATATAAATATATATAAGTACATATAAATATATAT ACATAAATATATAAATATATAAATAAATATATAAATACATAATATATATA AATATAAAATATATATAATATATAAAATATATTAAAAATATAAAAATATA TATAAAATATATATAAATATATAAAAATATATAAAAAATATATACACATA TAAATATATATAAAAATATATAAATATATATAAAAATATATAAATATATA TTATATATAAATATATAATATATAAATATATATAAATATATAAATATATA ATATATAAATATATATAAATATATAAATATATATAAATATATACAATATA TAAATATATATAAATATATACAATATATAAATATATATAAATATATACAA TATATAAATATATATAAATATATACAATATATAAATATATATAAATATAT ACAATATATAAATATATATAAATATATATAATATATAAATATATATAAAT ATATACAATATATAAATATATATAAATATATATAATATATAAATATATAT A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	217	0.0046	850	c.617 others(867): Show c.617-1534_617-1533insTATATATATTTATATATTATATATATTT ATATATATTTATATATTGTATATATTTATATATATTTATATATTATATAT ATTTATATATATTTATATATTGTATATATTTATATATATTTATATATTGT ATATATTTATATATATTTATATATTGTATATATTTATATATATTTATATA TTGTATATATTTATATATATTTATATATTGTATATATTTATATATATTTA TATATTTATATATATTTATATATTATATATTTATATATTTATATATATTT ATATATTATATATTTATATATAATATATATTTATATATTTTTATATATAT TTATATATTTTTATATATATTTATATGTGTATATATTTTTTATATATTTT TATATATTTATATATATTTTATATATATTTTTATATTTTTAATATATTTT ATATATTATATATATTTTATATTTATATATATTATGTATTTATATATTTA TTTATATATTTATATATTTATGTATATATATTTATATGTACTTATATATA TTTATATATTTATATATTTATATATTTATATATTTATATATTTATGTATT TATATATTTTTATATATTTATATATTTATATATTTATATATATTTATATA TTTATATATTTATATATTTATATATATTTATATATTTATATATTTATATA TATTTATATATTTATATATTTTTATATATTTATATATTTTTATATATTTA TATATTTTTATATATTTATATTTATATATTTATATATTTATATATTTATA TATTATATATTTATATTTATATATGTATATATTTTTATATATTTTTATTT ATATATTTATATATTTATATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
GALNT9_chr12_132191372_132334589	132243067	C C	CAGGGCCC others(843): Show CAGGGCCCTCCCTATACCCATTACACACACAACACACACCCTTCCCGGGG CCGTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTC CCTATACCCATTACACACACAACACAAACTTCCCGGGGCCCTCCCTATAC CCATTACACACACAACACACCCTTCCAGGGGCCCTCCCTATCCCCATTAC ACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTTACGCAC ACGCCACGCCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCC ACACCCCATTCCCGGGGCCCTCCCTATACCCATTACACACACACCACACA CCCTTCCAGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTT CCAGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCAGG GGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCCAGGGCCG TCCCTATACCCATTACACACACAACACACACCCTTCCCGGGGCCATCCCT ATACCCATTACACACACGCCACACACCCTTCCCAGGGCCGTCCCTATACC CATTACAAACACAACACACACCCTTCCAGGGGCCCTCCCTATACCCATTA CACACACGCCACACCCCCTTCCCGGGGCCGTCCCTATCCCCATTACACAC ACACCACACACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACACC ACACCCCCTTCCCGGGGCCCTCCCTATACCTATTGCACACACAACACACA CTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCC A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0058 a0001c0011t0001g0058	1	173	0.0058	850	c.107 others(869): Show c.1077+4842_1077+4843insTGGAAGGGTGTGTGGCGTGTGTGTAA TGGGTATAGGGAGGGCCCCGGGAAGTGTGTGTTGTGTGTGCAATAGGTAT AGGGAGGGCCCCGGGAAGGGGGTGTGGTGTGTGTGTAATGGGTATAGGGA GGGCCCCGGGAAGGGTGTGTGGTGTGTGTGTAATGGGGATAGGGACGGCC CCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGG AAGGGTGTGTGTTGTGTTTGTAATGGGTATAGGGACGGCCCTGGGAAGGG TGTGTGGCGTGTGTGTAATGGGTATAGGGATGGCCCCGGGAAGGGTGTGT GTTGTGTGTGTAATGGGTATAGGGACGGCCCTGGGAAGGGTGTGTGGCGT GTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGGCGTGTGTG TAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGGCGTGTGTGTAATG GGTATAGGGAGGGCCCCTGGAAGGGTGTGTGGTGTGTGTGTAATGGGTAT AGGGAGGGCCCCGGGAATGGGGTGTGGCGTGTGTGTAATGGGTATAGGGA GGGCCCCGGGAAGGGGGCGTGGCGTGTGCGTAAATGGGTATAGGGAGGGC CCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGGATAGGGAGGGCCCCTG GAAGGGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGTTT GTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGC GTGTGTGTAATGGGTATAGGGACGGCCCCGGGAAGGGTGTGTGTTGTGTG TGTAATGGGTATAGGGAGGGCCCT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132243067	C C	CAGGGCCC others(843): Show CAGGGCCCTCCCTATACCCATTACACACACAACACACACCCTTCCCGGGG CCGTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTC CCTATACCCATTACACACACAACACACACTTCCCGGGGCCCTCCCTATAC CCATTACACACACAACACACCCTTCCAGGGGCCCTCCCTATCCCCATTAC ACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTTACACAC ACGCCACGCCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCC ACACCCCATTCCCGGGGCCCTCCCTATACCCATTACACACACACCACACA CCCTTCCAGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTT CCAGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCAGG GGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCCAGGGCCG TCCCTATACCCATTACACACACAACACACACCCTTCCCGGGGCCATCCCT ATACCCATTACACACACGCCACACACCCTTCCCAGGGCCGTCCCTATACC CATTACAAACACAACACACACCCTTCCAGGGGCCCTCCCTATACCCATTA CACACACGCCACACCCCCTTCCCGGGGCCGTCCCTATCCCCATTACACAC ACACCACACACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACACC ACACCCCCTTCCCGGGGCCCTCCCTATACCTATTGCACACACAACACACA CTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCC A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02027.hp1 NA18999.hp2 HG00408.hp1 HG02027.hp1 NA18999.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0065 a0001c0011t0001g0116 a0001c0011t0001g0130 a0001c0011t0001g0065 a0001c0011t0001g0116 a0001c0011t0001g0130	3	175	0.0171	850	c.107 others(869): Show c.1077+4842_1077+4843insTGGAAGGGTGTGTGGCGTGTGTGTAA TGGGTATAGGGAGGGCCCCGGGAAGTGTGTGTTGTGTGTGCAATAGGTAT AGGGAGGGCCCCGGGAAGGGGGTGTGGTGTGTGTGTAATGGGTATAGGGA GGGCCCCGGGAAGGGTGTGTGGTGTGTGTGTAATGGGGATAGGGACGGCC CCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGG AAGGGTGTGTGTTGTGTTTGTAATGGGTATAGGGACGGCCCTGGGAAGGG TGTGTGGCGTGTGTGTAATGGGTATAGGGATGGCCCCGGGAAGGGTGTGT GTTGTGTGTGTAATGGGTATAGGGACGGCCCTGGGAAGGGTGTGTGGCGT GTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGGCGTGTGTG TAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGGCGTGTGTGTAATG GGTATAGGGAGGGCCCCTGGAAGGGTGTGTGGTGTGTGTGTAATGGGTAT AGGGAGGGCCCCGGGAATGGGGTGTGGCGTGTGTGTAATGGGTATAGGGA GGGCCCCGGGAAGGGGGCGTGGCGTGTGTGTAAATGGGTATAGGGAGGGC CCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGGATAGGGAGGGCCCCTG GAAGGGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGTGT GTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGC GTGTGTGTAATGGGTATAGGGACGGCCCCGGGAAGGGTGTGTGTTGTGTG TGTAATGGGTATAGGGAGGGCCCT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALP_chr19_56171008_56190775	56176508	C C	CCGGGGTG others(843): Show CCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCA GCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGGATGCCAGCTGCA GCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGGATGCCAGCTGCA GCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCA GCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGGATGCCAGCTGCA GCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCA GCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGCTGCCAGCTGCA GCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGGCTGCCAGCTGCA GCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCA GCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCA CCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCA CCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGGCTGCCAGCTGCA GCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCA GCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGGCTGCCAGCTGCA GCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCA CCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCA GCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGGCTGCCAGCTGCA G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0074 a0001c0001t0003g0074	1	396	0.0025	850	c.-40 others(865): Show c.-40+446_-40+447insCGGGGTGAGAGCCTAGGCCAGGAGGGCAGA GGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCACA GGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCACA GGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGA GGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCACA GGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGA GGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGA GGGGCGGCTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCACA GGGGCGGCTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGA GGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGA GGGGCGGATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCAGA GGGGCGGATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCACA GGGGCGGCTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGA GGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCACA GGGGCGGCTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGA GGGGCGGATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCAGA GGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCACA GGGGCGGCTGCCAGCTGCAG	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5			chr19	TogoVar
GRID2_chr4_92298966_93779566	93507944	T T	TTAAAAAT others(843): Show TTAAAAATGAACAATGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTG ACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTT TTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATT GAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTC TTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTCTCCTCTTTT ATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATC CCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGA ATGGGAGTTCACCCATGATCTGGCTCTCTGTTTGTCTGTTGTTGGTGTAT AAGAATGCTTGCACATATACACCATGGAATACTATGCAGCCATAAAAAAT GATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCAT TCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCAC TCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAAT ATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCA TTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACC AGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGT ACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAACGCCTAACAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0005 a0003c0007t0005	a0003c0007t0005g0013 a0003c0007t0005g0013	1	34	0.0294	850	c.199 others(869): Show c.1998-7256_1998-7255insTGCCTCCAGCTTTGTTCTTTTGGCTT AGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAA AGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGA TGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATA TTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTCTC CTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCT TCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCA ATTGTGAATGGGAGTTCACCCATGATCTGGCTCTCTGTTTGTCTGTTGTT GGTGTATAAGAATGCTTGCACATATACACCATGGAATACTATGCAGCCAT AAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAA CCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATA TTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAA GGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGG GATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCA GCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTG CACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAACGCCTAACAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAATAAAAATGAACAATGA	GRID2	ENSG00000152208.13	transcript	ENST00000282020.9	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
HAUS2_chr15_42543838_42574994	42557401	T T	TATATATA others(843): Show TATATATATTATATATTTTATATATAATATATATTTTATATATATTATAT ATTTTATATATAATATATATTTTATATATAATATATATTTTATATATATT ATATATTTTATATATAATATATATTATATATATATTATATATTTTATATA TAATATATATATATTATATATAATATATATTATATATAATATATATATTA TATAAAATATATAATATATATCTTATATATATCATATATTTTATATATAT CATATATTTTATATATATCATATATTTTATATATAATATATATTATATAT ACATTATATAATATATATTATATTATATATAATATATTATATAATATATA TTATATATTATACGTAATATATAATGTATATTATATATAATATACATTAT ATAATGTATATTATATATAATATACATTATATACAATGTATATTATATAT AATATACATTGTATATAATGTATATTACATATAATATACATTATATAATG TATATTACATATAATATACATTGTATATAATGTATATTACATATAATATA CATTGTATATAATGTATATTACATATAATATACATTATATATAATGTGTA TATTACATGTAATATACATTATATATAATGTATATTATATGTAATATATA CATTATATAATGTGTATATTATATGTAATATATACATTATATATAATGTA TATATTACATGTAATATATACATTATATATAATGTATATATTACATGTAA TATATACATTATATATAATGTATATTATATGTAATATATACATTATATAT AATGTATATTATATGTAATATATACATTATATATAATGTATATTATATGT A	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	309	0.0032	850	c.94- others(863): Show c.94-790_94-789insTTATATATTTTATATATAATATATATTTTATA TATATTATATATTTTATATATAATATATATTTTATATATAATATATATTT TATATATATTATATATTTTATATATAATATATATTATATATATATTATAT ATTTTATATATAATATATATATATTATATATAATATATATTATATATAAT ATATATATTATATAAAATATATAATATATATCTTATATATATCATATATT TTATATATATCATATATTTTATATATATCATATATTTTATATATAATATA TATTATATATACATTATATAATATATATTATATTATATATAATATATTAT ATAATATATATTATATATTATACGTAATATATAATGTATATTATATATAA TATACATTATATAATGTATATTATATATAATATACATTATATACAATGTA TATTATATATAATATACATTGTATATAATGTATATTACATATAATATACA TTATATAATGTATATTACATATAATATACATTGTATATAATGTATATTAC ATATAATATACATTGTATATAATGTATATTACATATAATATACATTATAT ATAATGTGTATATTACATGTAATATACATTATATATAATGTATATTATAT GTAATATATACATTATATAATGTGTATATTATATGTAATATATACATTAT ATATAATGTATATATTACATGTAATATATACATTATATATAATGTATATA TTACATGTAATATATACATTATATATAATGTATATTATATGTAATATATA CATTATATATAATGTATATTATATGTAATATATACATTATATATAATGTA TATTATATGTAATATATA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
HAUS2_chr15_42543838_42574994	42557401	T T	TATATATA others(843): Show TATATATATTATATATTTTATATATAATATATATTTTATATATATTATAT ATTTTATATATAATATATATTTTATATATAATATATATTTTATATATATT ATATATTTTATATATAATATATATTTTATATATATTATATATTTTATATA TAATATATATATATTATATATAATATATATTATATATAATATATATATTA TATAAAATATATAATATATATCTTATATATATCATATATTTTATATATAT CATATATTTTATATATATCATATATTTTATATATAATATATATTATATAT ACATTATATAATATATATTATATTATATATAATATATTATATAATATATA TTATATATTATACGTAATATATAATGTATATTATATATAATATACATTAT ATAATGTATATTATATATAATATACATTATATACAATGTATATTATATAT AATATACATTGTATATAATGTATATTACATATAATATACATTATATAATG TATATTACATATAATATACATTGTATATAATGTATATTACATATAATATA CATTGTATATAATGTATATTACATATAATATACATTATATATAATGTGTA TATTACATGTAATATACATTATATATAATGTATATTATATGTAATATATA CATTATATAATGTGTATATTATATGTAATATATACATTATATATAATGTA TATATTATATGTAATATATACATTATATATAATGTATATATTACATGTAA TATATACATTATATATAATGTATATTATATGTAATATATACATTATATAT AATGTATATTATATGTAATATATACATTATATATAATGTATATTATATGT A	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	309	0.0032	850	c.94- others(863): Show c.94-790_94-789insTTATATATTTTATATATAATATATATTTTATA TATATTATATATTTTATATATAATATATATTTTATATATAATATATATTT TATATATATTATATATTTTATATATAATATATATTTTATATATATTATAT ATTTTATATATAATATATATATATTATATATAATATATATTATATATAAT ATATATATTATATAAAATATATAATATATATCTTATATATATCATATATT TTATATATATCATATATTTTATATATATCATATATTTTATATATAATATA TATTATATATACATTATATAATATATATTATATTATATATAATATATTAT ATAATATATATTATATATTATACGTAATATATAATGTATATTATATATAA TATACATTATATAATGTATATTATATATAATATACATTATATACAATGTA TATTATATATAATATACATTGTATATAATGTATATTACATATAATATACA TTATATAATGTATATTACATATAATATACATTGTATATAATGTATATTAC ATATAATATACATTGTATATAATGTATATTACATATAATATACATTATAT ATAATGTGTATATTACATGTAATATACATTATATATAATGTATATTATAT GTAATATATACATTATATAATGTGTATATTATATGTAATATATACATTAT ATATAATGTATATATTATATGTAATATATACATTATATATAATGTATATA TTACATGTAATATATACATTATATATAATGTATATTATATGTAATATATA CATTATATATAATGTATATTATATGTAATATATACATTATATATAATGTA TATTATATGTAATATATA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
IFNAR1_chr21_33319970_33364864	33322625	T T	TGGAATAT others(843): Show TGGAATATATACATGGAATATATGTATATGGAATATATACATGGAATATA TGTATATGGAATATATACATGGAATATGTGTATATGGAATATATACATGG AATATATGTATATGGAATATATACATGGAATATATATATGGAATATATAC ATGGAATATATATATGGAATATATACATGGAATATATATATATGGAATAT ATACATGGAATATATATATATGGAATATATACATGGAATATATATATATA GAATATATACATGGAATATATATATGGAATATATACATGGAATATATATA TATGGAATATATACATGGAATATATACATGGAATATATACATGGAACATA TACATGGAATATATACATGGAACATATACATGGAATATATATATATGGAA CATATACGGAATATATATATGGAATATATATACGGAATATATATATATGG AATATATATACGGAATATATATATGGAATATATATACGGAATATATATAT ATGGAATATATATACGGAATATATATATATGGAATATATATACGGAATAT ATATATGGAATATATATATGGAATATGTATATGGAATATATATATATGGA ATATGTATATGGAATATATATATGGAATATATATATGGAATATATATATA TGGAATATATATATGGAATATATATATATGGAATATATATATGGAATATA TATATGGAATATATATATGGAATATATATATATGGAATATATATATGGAA TATATATATATGGAATATATATATATGGTATATATATATGGAATATATAT ATATGGAATACAAATATACGGAATATATATATGGAATACATATATACGGA A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0226 a0002c0002t0002g0226	1	233	0.0043	850	c.-24 others(861): Show c.-2431_-2430insGGAATATATACATGGAATATATGTATATGGAATA TATACATGGAATATATGTATATGGAATATATACATGGAATATGTGTATAT GGAATATATACATGGAATATATGTATATGGAATATATACATGGAATATAT ATATGGAATATATACATGGAATATATATATGGAATATATACATGGAATAT ATATATATGGAATATATACATGGAATATATATATATGGAATATATACATG GAATATATATATATAGAATATATACATGGAATATATATATGGAATATATA CATGGAATATATATATATGGAATATATACATGGAATATATACATGGAATA TATACATGGAACATATACATGGAATATATACATGGAACATATACATGGAA TATATATATATGGAACATATACGGAATATATATATGGAATATATATACGG AATATATATATATGGAATATATATACGGAATATATATATGGAATATATAT ACGGAATATATATATATGGAATATATATACGGAATATATATATATGGAAT ATATATACGGAATATATATATGGAATATATATATGGAATATGTATATGGA ATATATATATATGGAATATGTATATGGAATATATATATGGAATATATATA TGGAATATATATATATGGAATATATATATGGAATATATATATATGGAATA TATATATGGAATATATATATGGAATATATATATGGAATATATATATATGG AATATATATATGGAATATATATATATGGAATATATATATATGGTATATAT ATATGGAATATATATATATGGAATACAAATATACGGAATATATATATGGA ATACATATATACGGAA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2344		chr21	TogoVar
ITGB1BP1_chr2_9398475_9428528	9400249	T T	TTCCCCTC others(843): Show TTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTT CCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCC CCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCC CTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCT GCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGC CCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCT CCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTG CCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCTCCTGCC CCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTC CTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCTCC CCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCC CTTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCACCTTCCCTCC TGCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTTCTGCCCTCCTGC CCCCCTCCCCTCCTGTACCCCTCCCCCCTCCCCTCCTGTACCCCTCCCCC CTCCTGCCCCCTCCCCTCCTGCCCCCTGCCCCCCTCCCCTCCTGCCCCCT CCCTTCCTACCCCCTCCCCTCCTGCCCCCTCCCCTCCTCCCCTCATGCCC TCCTGCCCCCTCCCCTCCTGCCCCCCCTCCCCTCCTCCCCTCCTGCCCCC C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01261.hp1 HG01071.hp2 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0018 a0001c0001t0024g0018	2	125	0.0160	850	c.65 others(861): Show c.6584_*6585insGGGGGGCAGGAGGGGAGGAGGGGAGGGGGGGCAG GAGGGGAGGGGGCAGGAGGGCATGAGGGGAGGAGGGGAGGGGGCAGGAGG GGAGGGGGTAGGAAGGGAGGGGGCAGGAGGGGAGGGGGGCAGGGGGCAGG AGGGGAGGGGGCAGGAGGGGGGAGGGGTACAGGAGGGGAGGGGGGAGGGG TACAGGAGGGGAGGGGGGCAGGAGGGCAGAAGGGGAGGGGGGCAGGAGGG CAGGAGGGGAGGGGGCAGGAGGGAAGGTGGGCAGGAGGGGAGGGGGGCAG GAGGGCAGGAGGGGAAGGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAG GGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGAGGGC AGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGG GGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGGGGGGCAGGAGG GCAGGAGGGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGA GGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGCAGGAG GGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGG CAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGCAG GAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGG GGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGG GAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGA AGGGGGCAGGAGGGGA	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding		3225		chr2	TogoVar
JUND_chr19_18274694_18286622	18284532	T T	TAATAATA others(843): Show TAATAATAATAATAATAATAATAATAATAAAGACCTGGCCGTGCGCGATG GCTCACTCCTATAATCCCAGCACTTTGGGAGTCCAAAGCGGGTGGATCAT GAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTC TACTAAAAATTCAAAAATTAGCTGGGCGTGGTGGCGAATGCCTGTAGTCC CTGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCGGGAGGCGG AGGCTACAGTGAGCCAAGATTACGCCACTGCACTGCAGCCTGGGCAAAAG AGTAAGAATCCGTCTCAATAATAATAATAATAATAATAATAATAATGATA GGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCCCTTTGGGAGGCTGA GGCGGGCGGATCACCTGAGGTCGAGCGTTCGAGACCAGCTTGGCCAGCAT GGTGAAACCCCGTCTCCACTACAAATACAAAAATTAGCCAGGTGTGGTGG TGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGAAGAATCGCT TGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCAGAGGTTG CGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAACCCGTCTCTACTAAAAATACAA AATGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATCGGTTGAACCCAGGAATTGGAGGTTGCGGTGAGCC GAGATTGCACCATTGCACTCCAGCCTGGGCAACGAGCGAAACTCTGCCTA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	311	0.0032	850	c.-30 others(861): Show c.-3049_-3048insGTAGGCAGAGTTTCGCTCGTTGCCCAGGCTGGAG TGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTCAAC CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCC ACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGC GCGATCTTGGCTCACCGCAACCTCTGGCACGATCTTGGCTCACTGCAACC TCTGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAGCT GGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTAGT GGAGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGACCT CAGGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTATTAT TGAGACGGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATC TTGGCTCACTGTAGCCTCCGCCTCCCGGGCTCAAGCAATTCTCCTGCCTC AGCCTCCCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAA TTTTTGAATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGT CTTGATCTCCTGACCTCATGATCCACCCGCTTTGGACTCCCAAAGTGCTG GGATTATAGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTAT TATTATTATTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2911		chr19	TogoVar
KIF25_chr6_167992671_168050091	167997208	G G	GGGGGCGG others(843): Show GGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGGTGG GGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GTCGGGGGAATGTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGT CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCG GGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGG GGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGGTGGGGGGCGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGA ATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATGTG CAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTGGGGAATCTGCAGA GATGGGGGGTGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAG ATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0262 a0001c0006t0002g0262	1	304	0.0033	850	c.-22 others(861): Show c.-2261_-2260insGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGG AATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGTCGGGGGAATGTGCAGAGATGGGGGTCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGGTGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGC AGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCA GAGGTGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAG AGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAG ATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGGTG GGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GGTCGGGGGAATGTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGG GGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGG TGGGGAATCTGCAGAGATGGGGGGTGGGGAATCTGCAGAGATGGGGGTCG GGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		462		chr6	TogoVar

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