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
CLEC17A_chr19_14578084_14617035	14585489	TGACTCAG others(4256): Show TGACTCAGAGCTGGTCCATGTGATAAATAGAATACTGTATAGTGGAGACC ATCCTTTGTGACTTGTGAGGCTAGATCATAGGAGCATGGTGGCTTCTATC TTTGCCTCTGCCATGTTGTGAAGATGCCCAGTCATCCCTTTGGAGAGGCT CACATGGCAAGGAACTGAGGCCTCCCACCAACAGCCATGTGAGTGCATCA TCTTGGAAGCAGATCCTCTAGCCCCAGTCAAGCCTGCAGATGACTTGCAG TCCCAGGCAACATCTTGACTACAATCACGCAAGAGATCTCAAGCTAGAAC TACCCAGCTAAGCTGCTCTCAGATTCCTGAACCACAGAAACTGTGAGATA ATAAATGCTTATGGTTGTTTTAAGTCACTGCGTTTTGGGGTAATTGGTTG TGCAGCCATAGATAACTGACCCAGTGCCCTGGTACTTCACCATGGAATGT GGGGGAATACTTAACACCTATCCCCTTAACATCTTGTTACAAATGTTACC ACTTCCAGGAGGTACTTCCTGATGACCTCTCTACATTAGCTTTTATCCTA TCCCATTGCTCTGTTTTATTAGGTTTAGAGCAGTAATACTTAGTCTATAT AAAAACATATTTTAATGTTTCTTAATTTCTTTACTTTTTTTTTTTTTTTT TCTTGAGACGGAGTTTCACTCTTGCTGCCCAGGCCGGAGTGCAATGGTGC AATCTTGGCTGACAGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTG ACTCAGCCTCCCTGGCAGCGGGATTACAGGCATGTGCCACTGTGCCCGGC TAATTTTGTATTTTTAGAAAAGATGGGGTTTCTCCATGTTGGTCAGGCTG GTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGT GCTGAGATTACAGGCACGAGCCACCACGCCCAGCCTCTTTTCTACTTTTT TAAGAGTGGGGTCTCCCTCTGTTGCCCAGGCTGGAGTGTAGTAGTGCAAT CATGGCTCACTGCTGTGTCAACCTCCTGAGCTCAAGCAATCCTCCCACCT CAGCCTCCTGATAGCTGGGACTACTGGTGTGCACCACCATGCCTGGATGG TTTTTTCTAAATTTTTTTTACAGAGATAGGGTCTTGCTATGTTGCCCAGG CTGGTCTTGAACTCCTGGCCTCAAGCGATCCTCCTGCCTTGGCCTCCCAA AGTGCTGGGATTATAGGCATGAGCCATTGCGCCCAGCCTATTTCTATGTC TCTTTACTGGTTTATTGTGTCTCTGGTCTAGATTGAAGGAAGAAGTTTAT CCATCTCTTCCACCCAGAACTTGGTGCTCTGTAGGGGAGCTCAACTGGGA GCGGGGAGGTGGGTGGCTGTTGTCATTGTTTCTTCTTTTTCTTTCTTTCT TTCTTTTTTTTTTTTTTTGAGACAGAATCTCACTCTGTCACTCAGGCTGG AGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCTGAGTTCA AGTGATTCACCTGCCTCAGCCTCACAAGTAGCTGGGATTACAGGCAGGCA CCACCACGCCCGGCTAGTTTTTGTATTTTTGGTAGAGACGGGGTTTCACC ACGTTGGTTGCCCAGGCTGATCTCGAACTCCCAAACTCAGGCGACCTGCC AGCCTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACCCCC GGCCCATTGTTTCTTCTATGTGTGAGTCCAAACTCCAGAGAAAGATGTGT GTGTGTGTGTGTGTGTGTGTGTGTTTGTGTTTGTGTGAGGTCTGGGGGCT TCCCCCCAAGATGGATTTGCCTGTACTTGACTTTGAAAGGAAAGGGAAAC AGACAGATGCCTTAGACATCTGAGTAGGAGAGACAAGACCTGGCTACCCC TTGTCATGTTCCTGGTGTTAGCGGTAGCCATGCACAACCTGTATTCTATC TCTGGGTGTCCAGACCCACCAGGTAAGGCCCTGGCCAGGCTGGGGCTGGG GCCCAGGTGTGGTCAAGATCCAGGGTACAGAATCCCCATCATGGGGCAGC TGAGGCAGAGACCAGGGCTTGAGGGATGGAGGGAGGAGGGAATGGCTGGG CTCTGACTTGCCTTTCCCCTGGAAGGGACCATGGAGGAGGAGGAGGAGGA TGATGACTATGAGAACTCAACACCTCCCTACAAGGACCTTCCTCCCAAGC CAGGTAAGAGGACTTTTTGGAGTGTGACCTGGGGGAATACAGGGAACGGG GTCTCCAGTGGGCATTGGTTGGGCATTGTAGACACACAGTCAGTCTCCTC TCTACACAGCCCATGCCGGGCACTGTGGAACCCACACCCTGCCCAGGAGG ACCTGTCAGTCTGATGGCAGAGGCAGGATTGGGCACAGTCTTGGTGAGCA GGGTGAGAGAGGAGGGGTCAGGAGATTGGCAAAATCCTTGGGGGACTGAG GGCTCAAATAGAGGAAGGGACTTTGGGGTGAGACTTGAGGGATGAGTAGA CATTTCTTAAGAAGAGAAGTCCAGGAGAGAACTGTTAGGTGCAAAGTCCC TGAGTTACAAAAGCTGGTGCTTGAGAAACTGGGAGTGGACTGTGGGCTCC CAATCTCCTCACCTTTCTACCCAAAGCCCAGGTTTTATTTAGACTTGGAT CACAAACCCAAGGCATGGTACAGGGTCCAACAGGAGACTGATAAGTGGTT GTTAAAGTGGAGGTTTGGGCCAGCTGCAGTGGTGTGCATCTGTAGTCTTG ATACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGGACAGGAGTTTGAG ACCAGCCGGGGCAACATAGCAAGACCCCATCTCTGCCAAAAAAAAAAAAA AAACAAGTAGAGGTTTGGACCGTTTGTGGTGGCACATGTCTGTAGTCCCA GCTACTTGGGAGGCTGAGTCAGGAGGATCGCTTGAGCCCAGGAGTTCTGG GCTATTGTGAAGTATGTGATTGGGCATCTGCACTAAGTTTGGCATCAATA TGGTGATGTTTTGGGAGCAGGGACCACCAGGTTGCCTAAGGTGTCTGAGG AGGGGTTTCCAGGTTGGAAACAGAGCCACTCGACACCCCCGAGCTGATCA GTAGTGCGACTGCTCCTGTGAGTAGCCGCTGCACTCCAGCTTGGGCAGCA TAGCGCGACCCCACTTCTAAAAAAATAGAGAAAATGAAACCGGAGGTTTT TGAGGTATTCCTGAGTTTACTGCCACCAGGGACCCTGAGGCCATGAGAGA TCCTGGGGGCCCAAAACAGAAAATCCCTGAGATATGCTGATGGCCTGGTC CTGGTGACCTTAGACAGGGGCCATTCTATGAGGGCTGAGGCTGTATATCC CCCATCTCTGAGTCCAGAGTGGGGCCACCTGGGAGGTCCAGAAATATGGT GGGACTTGCCTGAGGTAGGAGGTGACCTGTGCTGTGTTGTTTCACTGCCC CATTTCCAATTTATGGTCCTAATGTGACCCTCAAGCCCTGGGTCTACATA TATGACCAACCAATCCCATTCCCTTCTTCAGGGCCACGTCTGCTCCAAAA GCACAGTCCTGTCCCCACATCCACATGCAGCCCAGCATCCACTCTCCAAT CCAACTTCATCACCCTCTCTACTATAGCCCAGCCTCGACTCCTTCCCCCT TCCCAAACCTGGCAAGGACTCTGTTCTTCATCCTAACCACATCATGACCT TACCCACATCCATCCCTGTCCCCAACCCATTTTCCATCCCATCCCACCCC ATCCCAACACCAATTCTAATCCAAACCTCACCTCATCTTCATCCCCATCC TGAAACGCAACTGTTTTTGTTTTTTAAAATCCCCTCCATCCCCTTCCATC CCTTCCCCTTTCAATCAAACCCTCAAAGAGACACACAGAGAAGAGAACTG TGAATTGTCTGCTCATTAGTTTTTATGAGAGGAAACCAGAGAATTTAAAA AAAATATTTTTGAGACAGGGTCTTGCTTGTCACCCAGGCTGCCCTGAAGT GGTGCAATCATAGCTCACTGCAGCCTTGAGCTCTTGGGTCCAAGCAATCC TCCTACTACACCCTCCCGAGTAGCTGGGGTTACAGGCATGAGTCACTGTC TGTAAAGCCTCACATGTGAAGCTCAGGGTCTACATATATGACTCATATGA CTCTCAGGGCCTGTAAGTTCTGCAGAGATGACTGTGGTAGTCAGCCTTCA AGATGGGTTCCCTGTGACCTTTACGTTCTCATATTCGTGCCCTTGTGTAG TCTCTTCCCACAAC	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19063.hp1 NA19063.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0003 a0005c0008t0003	a0005c0008t0003g0123 a0005c0008t0003g0123	1	364	0.0028	-4263	c.122 others(17): Show c.122-1613_200-2018del	CLEC17A	ENSG00000187912.12	transcript	ENST00000417570.6	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CLEC17A_chr19_14578084_14617035	14585083	TCCTTTCA others(4254): Show TCCTTTCAATCAAACCCTCAAAGAGACACACAGAGAAGAGAACTGTGAAT TGTCTGCTCATTAGTTTTTATGAGAGGAAACCAGAGAATTTAAAAAAAAT ATTTTTGAGACAGGGTCTTGCTTGTCACCCAGGCTGCCCTGAAGTGGTGC AATCATAGCTCACTGCAGCCTTGAGCTCCTGGGTCCAAGCAATCCTCCTA CTACACCCTCCCGAGTAGCTGGGGTTACAGGCATGAGTCACTGTCTGTAA AGCCTCATGTGAAGCTCAGGGTCTACATATATGACTCATATGACTCTCAG GGCCTGTAAGTTCTGCAGAGATGACTGTGGTAGTCAGCCTTCAAGATGGG TTCCCTGTGACCCTTACGTTCTCATATTCGTGCCCTTGTGTAGTCTCTTC CCACAATGACTCAGAGCTGGTCCATGTGATAAATAGAATACTGTATAGTG GAGACCATCCTTTGTGACTTGTGAGGCTAGATCATAGGAGCATGGTGGCT TCTATCTTTGCCTCTGCCATGTTGTGAAGATGCCCAGTCATCCCTTTGGA GAGGCTCACATGGCAAGGAACTGAGGCCTCCCACCAACAGCCATGTGAGT GCATCATCTTGGAAGCAGATCCTCTAGCCCCAGTCAAGCCTGCAGATGAC TTGCAGTCCCAGGCAACATCTTGACTACAATCACGCAAGAGATCTCAAGC TAGAACTACCCAGCTAAGCTGCTCTCAGATTCCTGAACCACAGAAACTGT GAGATAATAAATGCTTATGGTTGTTTTAAGTCACTGCGTTTTGGGGTAAT TGGTTGTGCAGCCATAGATAACTGACCCAGTGCCCTGGTACTTCACCATG GAATGTGGGGGAATACTTAACACCTATCCCCTTAACATCTTGTTACAAAT GTTACCACTTCCAGGAGGTACTTCCTGATGACCTCTCTACATTAGCTTTT ATCCTATCCCATTGCTCTGTTTTATTAGGTTTAGAGCAGTAATACTTAGT CTATATAAAAACATATTTTAATGTTTCTTAATTTCTTTACTTTTTTTTTT TTTTTTTCTTGAGACGGAGTTTCACTCTTGCTGCCCAGGCCGGAGTGCAA TGGTGCAATCTTGGCTGACAGCAACCTCTGCCTCCCGGGTTCAAGTGATT CTCCTGACTCAGCCTCCCTGGCAGCGGGATTACAGGCATGTGCCACTGTG CCCGGCTAATTTTGTATTTTTAGAAAAGATGGGGTTTCTCCATGTTGGTC AGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTTGGCCTCC CAAAGTGCTGAGATTACAGGCACGAGCCACCACGCCCAGCCTCTTTTCTA CTTTTTTAAGAGTGGGGTCTCCCTCTGTTGCCCAGGCTGGAGTGTAGTAG TGCAATCATGGCTCACTGCTGTGTCAACCTCCTGAGCTCAAGCAATCCTC CCACCTCAGCCTCCTGATAGCTGGGACTACTGGTGTGCACCACCATGCCT GGATGGTTTTTTCTAAATTTTTTTTACAGAGATAGGGTCTTGCTATGTTG CCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCGATCCTCCTGCCTTGGCC TCCCAAAGTGCTGGGATTATAGGCATGAGCCATTGCGCCCAGCCTATTTC TATGTCTCTTTACTGGTTTATTGTGTCTCTGGTCTAGATTGAAGGAAGAA GTTTATCCATCTCTTCCACCCAGAACTTGGTGCTCTGTAGGGGAGCTCAA CTGGGAGCGGGGAGGTGGGTGGCTGTTGTCATTGTTTCTTCTTTTTCTTT CTTTCTTTCTTTTTTTTTTTTTTTGAGACAGAATCTCACTCTGTCACTCA GGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCTG AGTTCAAGTGATTCACCTGCCTCAGCCTCACAAGTAGCTGGGATTACAGG CAGGCACCACCACGCCCGGCTAGTTTTTGTATTTTTGGTAGAGACGGGGT TTCACCACGTTGGTTGCCCAGGCTGATCTCGAACTCCCAAACTCAGGCGA CCTGCCAGCCTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACC ACCCCCGGCCCATTGTTTCTTCTATGTGTGAGTCCAAACTCCAGAGAAAG ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTTTGTGTGAGGTCTG GGGGCTTCCCCCCAAGATGGATTTGCCTGTACTTGACTTTGAAAGGAAAG GGAAACAGACAGATGCCTTAGACATCTGAGTAGGAGAGACAAGACCTGGC TACCCCTTGTCATGTTCCTGGTGTTAGCGGTAGCCATGCACAACCTGTAT TCTATCTCTGGGTGTCCAGACCCACCAGGTAAGGCCCTGGCCAGGCTGGG GCTGGGGCCCAGGTGTGGTCAAGATCCAGGGTACAGAATCCCCATCATGG GGCAGCTGAGGCAGAGACCAGGGCTTGAGGGATGGAGGGAGGAGGGAATG GCTGGGCTCTGACTTGCCTTTCCCCTGGAAGGGACCATGGAGGAGGAGGA GGAGGATGATGACTATGAGAACTCAACACCTCCCTACAAGGACCTTCCTC CCAAGCCAGGTAAGAGGACTTTTTGGAGTGTGACCTGGGGGAATACAGGG AACGGGGTCTCCAGTGGGCATTGGTTGGGCATTGTAGACACACAGTCAGT CTCCTCTCTACACAGCCCATGCCGGGCACTGTGGAACCCACACCCTGCCC AGGAGGACCTGTCAGTCTGATGGCAGAGGCAGGATTGGGCACAGTCTTGG TGAGCAGGGTGAGAGAGGAGGGGTCAGGAGATTGGCAAAATCCTTGGGGG ACTGAGGGCTCAAATAGAGGAAGGGACTTTGGGGTGAGACTTGAGGGATG AGTAGACATTTCTTAAGAAGAGAAGTCCAGGAGAGAACTGTTAGGTGCAA AGTCCCTGAGTTACAAAAGCTGGTGCTTGAGAAACTGGGAGTGGACTGTG GGCTCCCAATCTCCTCACCTTTCTACCCAAAGCCCAGGTTTTATTTAGAC TTGGATCACAAACCCAAGGCATGGTACAGGGTCCAACAGGAGACTGATAA GTGGTTGTTAAAGTGGAGGTTTGGGCCAGCTGCAGTGGTGTGCATCTGTA GTCTTGATACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGGACAGGAG TTTGAGACCAGCCGGGGCAACATAGCAAGACCCCATCTCTGCCAAAAAAA AAAAAAAAACAAGTAGAGGTTTGGACCGTTTGTGGTGGCACATGTCTGTA GTCCCAGCTACTTGGGAGGCTGAGTCAGGAGGATCGCTTGAGCCCAGGAG TTCTGGGCTATTGTGAAGTATGTGATTGGGCATCTGCACTAAGTTTGGCA TCAATATGGTGATGTTTTGGGAGCAGGGACCACCAGGTTGCCTAAGGTGT CTGAGGAGGGGTTTCCAGGTTGGAAACAGAGCCACTCGACACCCCCGAGC TGATCAGTAGTGCGACTGCTCCTGTGAGTAGCCGCTGCACTCCAGCTTGG GCAGCATAGCGCGACCCCACTTCTAAAAAAATAGAGAAAATGAAACCGGA GGTTTTTGAGGTATTCCTGAGTTTACTGCCACCAGGGACCCTGAGGCCAT GAGAGATCCTGGGGGCCCAAAACAGAAAATCCCTGAGATATGCTGATGGC CTGGTCCTGGTGACCTTAGACAGGGGCCATTCTATGAGGGCTGAGGCTGT ATATCCCCCATCTCTGAGTCCAGAGTGGGGCCACCTGGGAGGTCCAGAAA TATGGTGGGACTTGCCTGAGGTAGGAGGTGACCTGTGCTGTGTTGTTTCA CTGCCCCATTTCCAATTTATGGTCCTAATGTGACCCTCAAGCCCTGGGTC TACATATATGACCAACCAATCCCATTCCCTTCTTCAGGGCCACGTCTGCT CCAAAAGCACAGTCCTGTCCCCACATCCACATGCAGCCCAGCATCCACTC TCCAATCCAACTTCATCACCCTCTCTACTATAGCCCAGCCTCGACTCCTT CCCCCTTCCCAAACCTGGCAAGGACTCTGTTCTTCATCCTAACCACATCA TGACCTTACCCACATCCATCCCTGTCCCCAACCCATTTTCCATCCCATCC CACCCCATCCCAACACCAATTCTAATCCAAACCTCACCTCATCTTCATCC CCATCCTGAAACGCAACTGTTTTTGTTTTTTAAAATCCCCTCCATCCCCT TCCATCCCTTCC	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG02109.hp2 HG02109.hp2	a0009 a0009	a0009c0004 a0009c0004	a0009c0004t0002 a0009c0004t0002	a0009c0004t0002g0084 a0009c0004t0002g0084	1	364	0.0028	-4261	c.121 others(17): Show c.121+1827_199+1830del	CLEC17A	ENSG00000187912.12	transcript	ENST00000417570.6	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
GOLGA6L22_chr15_22453903_22474226	22463592	GGTGAGCT others(4254): Show GGTGAGCTGAGATTGTGCCATTGCACTCCAGTGAGGGCAACAAGAATGAA ACTCTGCCAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAAACAAATGAGA CCATGGGCTTGGAAATGCCTTGAGAACACGTCAGGTGTGATTGAGAGTGA GGAAGTGTTACTGTGGAGTAGTCACTGTAGCAGTTGTTCCTGGTCGTCCA GCTACTGCTGTGCCTGCTCTATCCTGACTTAACCTTTCTCTATTTGCAGT ACATTGAGGAGTTAACAAAGGAGAGGGACGCCCTGAGTCTGGAACTGTAC AGGAACACGTAGGATGGGGGAAGGTGGAATGGGAGGTCTGGGGGCCCTTA GCATGGGTGGTGTGCTGGGAGGTGGGGGGTCCAGGTGAGTGTGCGGAGAG GCTCATACATGTTTTCATGTGTGCACACGGAAGCTCTAGTGCTGGCTGTG CCACTGACTCATGGGGTAGCCTCAGGCAACTCATGTCTTCTCTCTGGCCT GCCACCTGGGACTTTTAATTCCTGGGGTCCCTTCCAGCGCCACGGTTCTG TGGTTGTGGGGCGAGGGTAGGGGGTCAATCACCAAAGTGGTCTTTTATGT TCTTCATTCATTCCTTTCTCTACTGCCTCTGGCCATAGCATAACTGATGA GGAGCTGAAGGAGAAAAATGCCAAACTACAAGAAAAACTTCAACTTGTAG AATCTGAAAAGTCTGAGATCCAGCTCAACGTAAAGGAGCTAAAAAGGAAA CTGGAGAGGGCCAAGCTCCTGCTGCCACAGGTGAGCAGCTGCAGCCCCGG GGGTTGTGGGAGACCCATCCAGCTGGGACCATGGTCTAGGGATCATGCAG GGTATGGGGAGGCTCCAGCCAAGAGCTGGAAAATTTGGGTCCTTGTTCTG GTCCCGCCATAGAATCCTCTAGAGTGTGCTAAAAATGTACAAATTGGGGC CCTGCCTGGGGAATCAGAATCTCAAGAGTTAGGGCTTAAAAATATTTTTT TAAAGGATCATGGATGAAAACCATTATTTTATAGATTACATTTATTTATT TATTTATTTATTTATTTATTTATTTGAGAAGTAGTCTCACTCTGTCACCC AGGCCAGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCAACCCCG GCTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG TGCCCACCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACTGTGTTAACCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CAGCCTATAGATTACATTTATGTGGCTAGCTCATGATTCTGCTTCCTTCT GAGGTTCAAAAAAACACTTTCACTATTCCAGCAGCAGCTGCAGGCGGAGG CTGACCACCTGGGTAAGGAGCTGCAGAGTGTGTCAGCAAAGCTCCAAGCC CAGGTGGAAGAGAACGAGTTGTGGAACCGCCTGAACCAGCAACAGGAGGA GAAGATGTGGAGGCAGGAGGAGAAGATACAGGAGTGGGAGGAGAAGATAC AGGAGCAGGAGGAGAAGATACGGGAGCAGGAGGAGAAGATACGGGAGCAG GAGGAGAAGATGCGGAGGCAGGAGGAGATGATGTGGGAGAAGGAGGAGAA GATGCGGAGGCAGGAGGAGATGATGTGGGAGAAGGAGGAGAAGATACGGG AGCTGGAAGAGAAGATGCACGAGCAGGAGAAGATACGGGAGCAGGAAGAG AAGAGGCAGGAGGAGGAGAAGATACGCGAGCAGGAGAAGAGGCAGGAGCA GGAGGCGAAGATGTGGAGGCAGGAGGAGAAGATACGGGAGCAGGAAGAGA AGATACGGGAGCAGGAGAAAAAGATGTGGAGGCAGGAGGAGAAGATTCAC GAGCAGGAGAAGATACGGGAGGAGGAGAAGAGGCAGGAGCAGGAGGAGAT GTGGAGGCAGGAGGAGAAGATAAGGGAGCAGGAGGAGATATGGAGGCAAA AGGAGAAGATGCACGAGCAGGAGGAGAAGATACGGAAGCAGGAGGAGAAG GTGTGGAGGCAGGAGGAGAAGATGCACGACCAGGAGGAGAAGATACGGGA GCAGGAGGAGAAGGTGTGGAGGCAGGAGGAGAAGATACGGGAGCAGGAGA AGAAACGGGAGCAGGAGGAGAAGATGTGGAGGCAGGAGGAGAAGATACGG GAGCAGGAGGAGAAGATACGGGAGCAGGAGGAGATGTGGAGGGAGGAAGA GAAGATGCATGAGCAGGAGAAGATATGGGAGGAGGAGAAGAGGCAGGAGC AGGAGGATAAGATGTGGAGGCAGGAGGAGAAGATACGGGAGCAGGAGGAG AAGGTGTGGAGGCAGGAGGAGAAGATACGGGAGCAGGAGGAAAAGAGGCA GGAGCAGGAGGAGAAGATGTGGAAGCAGGAGGAGAAGATAAGGGAGCAGG AGGAGAAGATACGGGAGCAGGAGGAGAAGATACGGGAGCAGGAGGAGAAG ATACGAGAGCAGGAGGAGATGATGCAGGAACAGGAAGAGAAGATGGGGGA GCAGGAAGAGAAGATGCAAGAACAGGAGAAGATGCGGAGGCAGGAGGAGA AGATAAGGGAGCAGGAGGAGAAGATACGGGAGCAGAAGGAGAAGATACGA GAGCAGGAGGAGAAGATATGGGAGCAGGAGGAGAAGATACGAGAGCAGGA GGAGATGATGCAGGAACAGGAAGAGAAGATGGGGGAGCAGGAGGAGAAGA TTTGGGAGCAGGAAGAGAAGATGCAAGAACAGGAGGAGAAGATGCGGAGG CAGGAGGAGAAGATAAGGGAGCAGGAGAAGAAGATACGGGAGCAGGAGGA GAAGATACGAGAGCAGGAGGAGATGATGCAGGAACAGGAAGAGAAGATGG GGGAGCAGGAAGAGAAGATGCAAGAACAGGAGGAGAAGATGCGGAGGCAG GAGGAGAAGATAAGGGAGCAGGAGAAGAAGATACGGGAGCAGGAGGAGAA GATACGAGAGCAGGAGGAGATGATGCAGGAACAGGAAGAGAAGATGTGGG AGCAGGAGGAGAAGATGTGTGAGCAGGAAGAGAAGATGCAAGAACAGGAG GAGAAGATGCGGAGGCAGGAGGAGAAGATGTGGGAGCAGGAAGTGAGGCT GCGGCAGCAGGAGGAGAAGATGCAGGAACACTAGGTGAGGCTGCAGGAGC TGGAGGAGAGGCTGGGGAAGCTGGGGCAGAAGGCCGAGCTCTTGGGGGGA GCAGGCGGAGGTGTGTGCAAACCCTGGAGATCATACAGAACGACCTCACC ACAACTTAGCAGATGGTGGTTGGCTCCCTCTGCTTTTCCACCAGTCTGTG GCCTACAGTTTAAATGGTGGGAAGAAGGGTGTGAGATTTGAGGCTGGGGA GGGAGGCATGGGCCTCTAGGCAAGGGAGGCAGTCATTTAGGCCTGGAGGA AGGGGCCAGGGCCAGGGGCCTGGGTAGGCGACAGAGCCCCGCAGTGCCCT CACTACCCTGTTTATGGGCCCAGAATCTGGAAGCCAGCCACTACCTACCC TGACGCCTATCCTGCAGGTGGAGCTGAAGAGCCAAGAGGCTGAGTCTGCA GCAGCAGCGAGACCATTACCTGGGTCACCTGCAGCAGTACGTGGCCGCCT ATCAGCAGCTGGCCTCTGAGAAGGAGGCACTGCCCAGCTGCAGCAGCAGG AAGCTCAGGGCGAAGCGGTGGCCGAGATGGCCCACCAATAGTTGCAGGAG ACCCGGTTGAGGGAGTTGATGAGGGCGGGGCCCCAAGGGGGATGATCTGG CAACCTCCGTGCCTTCTCACTCTCTTTCCTGGCCCCTTAGGAGCACCTGG AAGCTGCCATCTAATGAGCACATGACAAGAAGGCAAAGACAATAAACATG TAAAAGCCGGCAGCAAGGCCTGGAGAAGAGTAAGCCGCCATGTGACTGTT TAGAATATAGTCTGAGCACAAACCTGAAAAAAAAATTTTATTTATTTTAA ATTGTGGCAAAATACTGGCCAGGCATGGTAGCTCACGCCTGTAATCCTAG CAATTTGGGAGGCCGAGGTAAATGGATGACCTGAGGTCAAGAGTTCAAGA CCAGCCTGGCCAATACAAAAATTAGCCGGGCATGGTGGCGCATGCCTGTA ATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAG GCAGAGGTTGCA	G G	exon_loss_variant exon_loss_variant	HIGH	HG03669.hp2 HG03669.hp2	a0000 a0000	a0000c0029 a0000c0029	a0000c0029t0013 a0000c0029t0013	a0000c0029t0013g0021 a0000c0029t0013g0021	1	226	0.0044	-4261	c.562 others(12): Show c.562-236_*384del	GOLGA6L22	ENSG00000277865.6	transcript	ENST00000622895.2	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
TTN_chr2_178520989_178812423	178656457	TACTACCA others(4254): Show TACTACCATCAGAATGAACAGGCAACCCACAGAATGGGAGAAAATTTTTG CAATCTACTCATCTGACGAAGGGCTAATATCCAGAATCTACAATGAACTC AAACAAACGTGTAAGAAAAAAACAACCCCATCAACAAGTGGGCGAAGGAT ACAAACAGACACTTCTCAAAAAAAGACATTTATGCAGCCAAAATACACAA GAAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCA CAATGAGATACCATCTCACACCAGTTAGAATGGTGATCATTAAAAAGTCA GGAAACGACAGGCGCTGGAGAGGATGTGGAGCAATAGGAACACTTTTACA ATGTTGCTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGC GATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCA TTACTGGGTATATACCCAAAGGATTATAAATCATGCTGCTATAAAGACAC GTGCACACGTATGTTTATTGCGGCACTATTCATATTAGCAAAGACTTGGA ACCAACCCAAATGTCCATCAATGATAGACTGGATTAAGAAAATGTTCCAC ATATACTCCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTC CTTTGTAGGGACATGGATGAAACTGGAAACCATCATTCTTGGCAAACTAT CACAAGGATAAAAAACCAAACATTGCATGTTCTCATTCATAGGTGGGAAT TGAACAATGAGAACACATGGATACAGGAAGGGGGACACCACACACCGGAG TGTGTTGTGAGGTGGGGGGATGGGGGAGGGATAGCATTAGGAGACATACC TAATGTAAATGACGAGTTAGTGGGTGCAGCACACCAACATGGCACATGTA TACATACGTAACAACCTGCACGTTGTGCACATGTACCCTAGAACTTAAAG TATAATAAAAATATATATATATATAAAAAGAAAAATATTTTCCAGAGCAC AAGAGATAGATCATCTGAAGCCTAAAATCAGTGACAAATACCTTTAACAG GTGGGACTTCAGGCTTTTTAGGAGGAGTCGAGGGCACTTTCTTTTCAAGG ACAACTTCTTTGGGAGCCTCTGGCACTTAAAAGATATTAGTAAAGTTACA TGTGGAGCTATGGAGACTACTAGCAAAATATACAGCAGAGGAATTGGATC TTCTGAAGCTTAAGGTCAAATGACAAGTACCTGTAACAGGTGGAACTTCT GGCTTTTTAGGAAGCACCAGTGTTTTCTTTTCTGGCACAATTTCTTGTGG GACTTCAGGCACTTGAAAGATATTAGTAGTTTTTCACTTAGGTTAATGAG ACAAATGGAGTAAAATATTTCTAAGATCAGAAGAGATATTTCTTCTGCAG AAAAAGGACAGGGGTAAAAAATACCTGTGGCAGGTGGGGCTTCTGGTTTT GTGGGAGGAGCCTTAGGAACTTTCTTTTCTGGGACAACTTCTTGAGCTTC AGGCACTTGAAAGATATTAGTAGTTTTAGACTTAAGTTAATGAAGAGAAA TGGGCTAAAATTGTTTACAGTAGGAGAGGAGATATCTCTTCTGCAGAATG AAGTCAGGGCTAAAGTGTACCTGGGACAATCGGAGCTTCTGGTTTTTTGG GTGGAGCCACGGGAATTTCTTTTTCTGCGGCTTCTTGAGGAACTTCTGGC ACTTGAAAGATATTAGTAGTTTTATACTTAGGTTAATGAAGAGGAATGGA CTAAAATTGTTTTCAGGAATGGAAGAGAGATTTCTTCTGCAGGATAAGGT TGAGCTGACATGTACCTGTAACTGCGGGGGCTTCTGGTTTTTTGATTGGT GCCTTGGGAATTTTCTTTTCTGGGACAACTTCTTGAGCAGCTTCAGGCAC TTGAAAGATATTAGTATTTTTATAATTTATGAATGGTGAAGGTATATATT ACAGTGATTGTGAGGGGTACAGACGATAAGTTTTTCTTAGCAGAGGAGAG GGAATAAATACCTTTTGCACGTGGGGCTTCCGGTTTTTTGGGCACAGCCA CAGATGCTTTCTTTTCAAGTACAACTTCTTTAGGAGCTTCAGGAACTTTG AAGATATTAGTATCTTTTAGTTAGAAGCTATAAAGGGGGAATATCGACTC CACATTTACCCAAGCAAATACAACTTGTGAGATCGGCGGACACTTCTATA CAGTCTTTCCCCAGGGCCCCCCGACTGACAATGTGTAATGATACCTACCT TTAGGAGGTGGAGCTTCTGGCTTTTTGGCAGGAGGCACCGGTACTTTCTT TTCTGGGACCACTTCCTTCGGTGGCAGCACTTCAGGCACTTCAAAGATAT TTGTAATTTGTGTTTAGAAAAGGTGAAAACGATGGATGCCTTTTGCATAT AAACACCCACCAAGATATTTTGGATAGTGATTGACATTTGTTTTCTTTAG AATTATATCATCTTTATGTAGTAGGATTTTTAACATGTAATTTCCTAGTT AAAATAACAGTTATTTTTCTCCTATAGTTTGTATAGCTTTGGCATTACCT TCAGGGGGAGGACTTTCCGGTTTGGGAGGAATAGCTTCAGGCACCTTCTT TTCTGGGACAGCTGCCTTTGGCACCTCTGGGACTTTAAAGATATTAGTAT TTTCATTATTAGACAAAGTAAAGACAAACAAACAATATCAAACACAGCAA CAAGAGGGTGTCTACCTTTTGTGGGTGGCACTTCAGGCTTTTTAGGAGGA GGCACTGGCACTTTCTTTTCAGGAACAACTTCTTTGGGAGCCTCAGGCAC TTGAAAGATATTAGTGAAATTACATTTAGGCATTATGAAGACCACTAGAA AAATATTTTCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGG GCTTCATCCCTGGGATGGAAGGCTGATTCAACATACAAAAATCAATAAAC GTAATCCATCATATAAACAGAACCAACGACAAAAACCACATGATTATCTC AATAGATGCAGAAAGGGCCTTTGACAAAATTCAACAGCCCTTCATGCTAA AGACTCTCAATAAATTAGGTATTGATGGGACGTATCTCAAAATAATAAGA GCTATTTATGACAAACCCACAGCCAGTATCATACTGAATGGGCAAAAACT GGAAGCATTCCCTTTGAAAACTGGCACAAGACAGGGATGCCCTCTCTCAC CACTCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAG GAGAAAGAAATAAAGGGTATTCAATAAGGAAAAGAGGAAGTCAAATTGTC CCTGTTTGCAGATGGCATGATTGTATATCTAGAAAACCCCATCGTCTCAG CCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATAC AAAATCAATGTGCAAAGATCACAAGCATTCTTATGCACCAATAACAGACA AACAGAGAGCCAAATCGTGAGTGACCTCCCATTCACAGTTGCTTCAAAGA GAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTC AAGGAGAACTACAAACCACTGCTCAACGAAATAAAAGAGGACACAAATGG AAGAACATTCCATGCTCATGGATAGGAAGAACTAATACCGTGAAAATGGC CATACTGCCCAAGGTAATTTATAGATTCAATGCCATCTCCGTCAAGCTAT CAATGACTCTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGG AACCAAAAAAGAGCCCACATTGCCAAGTCAATCCTAAGCCAAAAGAACAA AGCTGGAGGCGTCACGCTACTGTATTACAAGGCTACAGTAACCAAAACAG CATGGTACTGGTACCAAAACAGAGATATAGACCAATGGAACAGAACAGAG CCCTCAGAATAATACCACACATCTGCAACCATCTGATCTTTGACAAACCT GACAAAAACAAGAAATGGGGAAAGGGTTCCCTATTTAGCAAATGGTGCTG GGAAAACTGGCTAGCCATATGTAGAAAGCTGAAATTGGATCCCTTCCTTA CACCTTACACAAAAATTAATTCAAGATGGAGTAAAGACTTAAATGTTAGA CCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCAATACCATTCAGGA CATAGGCATGGGCAAGGACTTCATGTCTAAAATACCAAAAGCAATGGTAA CAAAAGCCAAAATTGACAGATAGGATCGAATTAAACTAAAGAGCTTCTGC ACAGCAAAGGAA	T T	exon_loss_variant exon_loss_variant	HIGH	HG02922.hp2 HG02922.hp2	a0157 a0157	a0157c0107 a0157c0107	a0157c0107t0001 a0157c0107t0001	a0157c0107t0001g0145 a0157c0107t0001g0145	1	242	0.0041	-4261	c.372 others(21): Show c.37285+1041_38038+1040del	TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	189/363			chr2	TogoVar
VRK2_chr2_58041806_58164871	58091566	AAAATGTA others(4254): Show AAAATGTAATTGAATATTTGATCTCTGCATTGGTTAAATTTCTTAATAAA AATTTTTTCAAAATGAAAGGTGAATGAGAAACTGGGAAATAGATAGATAA CAAATATTTGAGAATATCTAGCCGGTACTAAAAAAAAAATTAAGAAAAAC ACTAAATACCTTGTTAAAGCGATGATCGAAAAGAATGAATAAACAGAACA GAGAAGGAATATGACTGTCCTAGAAACAGGAAAAAAGGCTACCTTTGTGA AAAATGAGAAGATAAGGAGACCAAAACAGCGAGGCACCCTTTTTAAAGGA CTTATCAAATTGGAGAGGTCTAAAATAATAGTCTGATAATATTGAGGCTG ATAAAGGTACCAGCACTTTTAGAATGCCCTTTGGGAATGTAAATTAAATG GTATAAGAAAGTTAGTGGAAGGGAATTTGGCAATATCTGCATACTTTTCA AAGATTAGGTTTTTTGAGATATAATTTACAAACAGTAAATGTCACGCTTT TAAATGTACAGTTTGATATCTTTTGACAGATGTATGTATCATGTAACCAC TACTGCCACCAAGATGTAGAACATTTCTTTCATTCCCAAAAGTTCTCTCA TTCCTGTTTAGAGTCAGTCCCCTTCTCCTGGCATTGCTCCCAGCCCCAGG AGATGATTTCTGTCCCTATATTTTTACATTTTCAGGAATGGTATATAAGT GGAATTGTAAGGTATGTACTGTTTTGGGTCTGTTTTCCTTCACTTAACAT AATGCTTTTGAGATTTATCTTTGTAGGTCATTAGTAGTTCATTCCTTTTT ATTGCTGAGTAGTATTCTATTGAAAACTGCTACAATTTCTGTTCACCTGT TGATGGCTATCTGGGTTGTTTTCAGTTTTTGACAGTTATAAATAAAGTTG CTATAAGCTAAGCATTCACATACAGCCTTTTGTGGAGACATATGTTTCAC TTTCTTTTGAGTAAATAACTAGGAGTGGAATTTCTGGGTCATATGAAAGT GTATGTTTCACATGGAAACTGCCAAGTTGTTTTCTGGAGTGACTGTACCA TTAAACATTCCCATCAGCAATGTGTGATATTTCATTTGCTCCACCTGGTT TCATTTTTTTTTCCATACTTTAAGTTCTAGGGTACATGTGCACAAAGTGC AGGTTTGTTATATATGTATACATGTGCCATGTTGGTGTGCTGCGCCCATG AACTTGTCATTTATATTAGGTATATCTCCTAATGCTATCCCTCCCTCTTC CCCCGACCCCATGACAGGCCCCGGTGTGTGTTGTTCCCCTTCCTATGTCC AAGTGTTCTCATTGTTCAATTCCCACCTATGAGTAAGAACATGCGGTGTT TGGTTTTTTGTTCTTGCGATAGTTTCCTGAGAATGATGGTTTCCAGCTTC ATCCATGTCCCTACAAAGGACATGAACTCATCCTTTTTTATGGCTGCATA GTATTCCATGGTATATATGTGCCACATTTTCTTAATCCAGTCTATCATTG ATGCACATTTGGGTTGGTTACAAGTCTTTGCTATTGTGAATAGTGCTGCA ATAAACATACATGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTT TGAGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTGTTTCTAGTT CTAGATCCCTGAGGAATCGCCACACCGACTTCCACAATGGTTGAACTAGT TTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCT CCAGCGCCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTG TGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGT GATGATGAGCATTTTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTT TGAGAAGTGTCTGTTCATATCCTTTGCCCACTTTTTGATGGGGTTGTTTG TTTTTTTCTTGTAAATTTGTTTGAGTTCTTTGTAGATTCTGGATATTAGT CCTTTGTCAGATGAGTAGGTTGCGGAAATGTTCTCCCATTTTGTAGGTTG CCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTT TAATTAGATCCCATTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGT GTTTTAGTCATGAAGTCCTTGCCCATGCCTGTGTCCTGAATGGTATTGCC TAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTCTAACATTTAAGTCTT TAATCCATCTTGAATTAATTTTTGTATAAAGTGTAAGGAAGGGATCCAGT TTCAGCTTCCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAA TAGGGAATCCTTTCCCCATTTCTTGTTTTTGTCAGGTTTCTCAAAGATCA GATGGTTGTAGATGTGTGATATTATTTCTGAGGGCTCTGTTCTGTTCCAT TGGTCTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGT AGCCTTGTAGTATAGTTTGAAGTCAGGTAGCCTGATGCCTCCAGCTTTGT TCTTTTGTCTTAGGATTGTCTTGGCAATGCAGGCCCTTTTTTGGTTCCAT ATGAACTTTAGAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAG CTTGATGGGGATGGCATTGAATCTATAAATTACCTTGGGCAGTATGGCCA TTCTGATGATATTGATTCTTCCTATCCATGAGCATGGAATGTTCTTCCAT TTGTTTGTGTCCTCTTTTATTCCATTGAGCAGTGGTTTGTAGTTCTCCTT GAAGAGGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTC TCTTTGAAGCAGTTGTGAATGGGAGTTCACTCATGATTTGGTTCTCTGTT TGCTGTTGGTGTATAAGAATGCTTGTGATTTTTGCACATTGATTTTGTAT CCTGAGACTTTGCTGAAGTTGTTTATCAGCTTAAGGAGATTTTGGGCTGA GACGATGGGGTTTTCTAAATAATCATGTCATCTGCAAACAGGGACAATTT GACTTCCTCTTTTCCTAATTGAGTACCCTTTATTTTTTAAACTTAAAGCT CTCTTATTCATTACAGTTTATTATAAGTGGTTTTCCAGTTGTTCCAACAC TATTTATTTTAAAATATCTTTGCTTCAGTAATATTAGTTGTTACTTTTGT CATATACTCAGTTTCCTCATGTACTTGGTTTTATTTCTGTACTTTCTGTT GAATCACACTGATTTGTCTATTTATATAACAATACTAGCCATAAATACTT TTGCATTAATTTCTGAAGCTTTATAATGTAATTTAACATTGGATTGGACT AGTAGTTCCCTGTAGTTCTCCGTTTTCAGTGTTATCTTAGCTATTTATAC TGGATTTTCTGTATTATTTTGTTTAGTTTCATTTAAAAGGAATACTTGTG CTGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGG CAGGTGGATCACGAGGTCAGGAGATAGAGACCATCCTGGCTAACATGGTG AAACCCCACCTCTACTAAAAATACAAAAATTATCCGGGCGTGGTGGCAGG TGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAG CCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAATAC TTGTTGGCATTTTCATTGAAATTATGTTAAGTTTTAAAATTGATTTGGGG GAGACCTCACATCTGTATGATGTATAGATGTTCATATATGAACAAGGAAT GTTTCTGTTTTTCATCAATTTTGCATTAGGTCATTAGGATTATTTTAAAG CTTTCCTCTTACTAGTTTTGCATATTTCTTATTATGTTTGTTTCAAAATA TTATACCTTTTTGTTGATATTGTCAGTGGATTTATTCTATTATTTCTTAT TATTTTTGTTTATATATATGAAGAATTTTTATTTCCATGCATTAATTTTA TATCCTGTTAATTTACGGAATTATTTGTGGTTCAGAGTGGTTTTAGTAAT GGTTCTTTAGAGTTTTCTTAGAAAACTGTCATATGCAAGTAGATACAGTA GTTTTTCTTCTTTTACAGTTCTTGTATTTAATTTGTCTTGTCTAATTGCA TTGTCTAATACATTCAATACAGTATTAAATAGTAAGAAATGTAATCATCT TTTACTCTTCTT	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0276 a0002c0002t0002g0276	1	340	0.0029	-4261	c.543 others(17): Show c.543+1846_543+6106del	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
TTN_chr2_178520989_178812423	178655278	ATATCTCA others(4253): Show ATATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCAGTATCA TACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAAACTGGCACAAGA CAGGGATGCCCTCTCTCACCACTCCTATTCAACATAGTGTTGGAAGTTCT GGCCAGGGCAATCAGGCAGGAGAAAGAAATAAAGGGTATTCAATAAGGAA AAGAGGAAGTCAAATTGTCCCTGTTTGCAGATGGCATGATTGTATATCTA GAAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTT CAGCAAAGTCTCAGGATACAAAATCAATGTGCAAAGATCACAAGCATTCT TATGCACCAATAACAGACAAACAGAGAGCCAAATCGTGAGTGACCTCCCA TTCACAGTTGCTTCAAAGAGAATAAAATACCTAGGAATCCAACTTACAAG GGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCAACGAAA TAAAAGAGGACACAAATGGAAGAACATTCCATGCTCATGGATAGGAAGAA CTAATACCGTGAAAATGGCCATACTGCCCAAGGTAATTTATAGATTCAAT GCCATCTCCGTCAAGCTATCAATGACTCTCTTCACAGAATTGGAAAAAAC TACTTTAAAGTTCATATGGAACCAAAAAAGAGCCCACATTGCCAAGTCAA TCCTAAGCCAAAAGAACAAAGCTGGAGGCGTCACGCTACTGTATTACAAG GCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGA CCAATGGAACAGAACAGAGCCCTCAGAATAATACCACACATCTGCAACCA TCTGATCTTTGACAAACCTGACAAAAACAAGAAATGGGGAAAGGGTTCCC TATTTAGCAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTG AAATTGGATCCCTTCCTTACACCTTACACAAAAATTAATTCAAGATGGAG TAAAGACTTAAATGTTAGACCTAAAACCATAAAAACCCTAGAAGAAAACC TAGGCAATACCATTCAGGACATAGGCATGGGCAAGGACTTCATGTCTAAA ATACCAAAAGCAATGGTAACAAAAGCCAAAATTGACAGATAGGATCGAAT TAAACTAAAGAGCTTCTGCACAGCAAAGGTACTACCATCAGAATGAACAG GCAACCCACAGAATGGGAGAAAATTTTTGCAATCTACTCATCTGACGAAG GGCTAATATCCAGAATCTACAATGAACTCAAACAAACGTGTAAGAAAAAA ACAACCCCATCAACAAGTGGGCGAAGGATACAAACAGACACTTCTCAAAA AAAGACATTTATGCAGCCAAAATACACAAGAAAAAATGCTCATCATCACT GGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACAC CAGTTAGAATGGTGATCATTAAAAAGTCAGGAAACGACAGGCGCTGGAGA GGATGTGGAGCAATAGGAACACTTTTACAATGTTGCTGGGACTGTAAACT AGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAAC TAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAG GATTATAAATCATGCTGCTATAAAGACACGTGCACACGTATGTTTATTGC GGCACTATTCATATTAGCAAAGACTTGGAACCAACCCAAATGTCCATCAA TGATAGACTGGATTAAGAAAATGTTCCACATATACTCCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAA ACTGGAAACCATCATTCTTGGCAAACTATCACAAGGATAAAAAACCAAAC ATTGCATGTTCTCATTCATAGGTGGGAATTGAACAATGAGAACACATGGA TACAGGAAGGGGGACACCACACACCGGAGTGTGTTGTGAGGTGGGGGGAT GGGGGAGGGATAGCATTAGGAGACATACCTAATGTAAATGACGAGTTAGT GGGTGCAGCACACCAACATGGCACATGTATACATACGTAACAACCTGCAC GTTGTGCACATGTACCCTAGAACTTAAAGTATAATAAAAATATATATATA TATAAAAAGAAAAATATTTTCCAGAGCACAAGAGATAGATCATCTGAAGC CTAAAATCAGTGACAAATACCTTTAACAGGTGGGACTTCAGGCTTTTTAG GAGGAGTCGAGGGCACTTTCTTTTCAAGGACAACTTCTTTGGGAGCCTCT GGCACTTAAAAGATATTAGTAAAGTTACATGTGGAGCTATGGAGACTACT AGCAAAATATACAGCAGAGGAATTGGATCTTCTGAAGCTTAAGGTCAAAT GACAAGTACCTGTAACAGGTGGAACTTCTGGCTTTTTAGGAAGCACCAGT GTTTTCTTTTCTGGCACAATTTCTTGTGGGACTTCAGGCACTTGAAAGAT ATTAGTAGTTTTTCACTTAGGTTAATGAGACAAATGGAGTAAAATATTTC TAAGATCAGAAGAGATATTTCTTCTGCAGAAAAAGGACAGGGGTAAAAAA TACCTGTGGCAGGTGGGGCTTCTGGTTTTGTGGGAGGAGCCTTAGGAACT TTCTTTTCTGGGACAACTTCTTGAGCTTCAGGCACTTGAAAGATATTAGT AGTTTTAGACTTAAGTTAATGAAGAGAAATGGGCTAAAATTGTTTACAGT AGGAGAGGAGATATCTCTTCTGCAGAATGAAGTCAGGGCTAAAGTGTACC TGGGACAATCGGAGCTTCTGGTTTTTTGGGTGGAGCCACGGGAATTTCTT TTTCTGCGGCTTCTTGAGGAACTTCTGGCACTTGAAAGATATTAGTAGTT TTATACTTAGGTTAATGAAGAGGAATGGACTAAAATTGTTTTCAGGAATG GAAGAGAGATTTCTTCTGCAGGATAAGGTTGAGCTGACATGTACCTGTAA CTGCGGGGGCTTCTGGTTTTTTGATTGGTGCCTTGGGAATTTTCTTTTCT GGGACAACTTCTTGAGCAGCTTCAGGCACTTGAAAGATATTAGTATTTTT ATAATTTATGAATGGTGAAGGTATATATTACAGTGATTGTGAGGGGTACA GACGATAAGTTTTTCTTAGCAGAGGAGAGGGAATAAATACCTTTTGCACG TGGGGCTTCCGGTTTTTTGGGCACAGCCACAGATGCTTTCTTTTCAAGTA CAACTTCTTTAGGAGCTTCAGGAACTTTGAAGATATTAGTATCTTTTAGT TAGAAGCTATAAAGGGGGAATATCGACTCCACATTTACCCAAGCAAATAC AACTTGTGAGATCGGCGGACACTTCTATACAGTCTTTCCCCAGGGCCCCC CGACTGACAATGTGTAATGATACCTACCTTTAGGAGGTGGAGCTTCTGGC TTTTTGGCAGGAGGCACCGGTACTTTCTTTTCTGGGACCACTTCCTTCGG TGGCAGCACTTCAGGCACTTCAAAGATATTTGTAATTTGTGTTTAGAAAA GGTGAAAACGATGGATGCCTTTTGCATATAAACACCCACCAAGATATTTT GGATAGTGATTGACATTTGTTTTCTTTAGAATTATATCATCTTTATGTAG TAGGATTTTTAACATGTAATTTCCTAGTTAAAATAACAGTTATTTTTCTC CTATAGTTTGTATAGCTTTGGCATTACCTTCAGGGGGAGGACTTTCCGGT TTGGGAGGAATAGCTTCAGGCACCTTCTTTTCTGGGACAGCTGCCTTTGG CACCTCTGGGACTTTAAAGATATTAGTATTTTCATTATTAGACAAAGTAA AGACAAACAAACAATATCAAACACAGCAACAAGAGGGTGTCTACCTTTTG TGGGTGGCACTTCAGGCTTTTTAGGAGGAGGCACTGGCACTTTCTTTTCA GGAACAACTTCTTTGGGAGCCTCAGGCACTTGAAAGATATTAGTGAAATT ACATTTAGGCATTATGAAGACCACTAGAAAAATATTTTCCAGCAGCACAT CAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGGAAG GCTGATTCAACATACAAAAATCAATAAACGTAATCCATCATATAAACAGA ACCAACGACAAAAACCACATGATTATCTCAATAGATGCAGAAAGGGCCTT TGACAAAATTCAACAGCCCTTCATGCTAAAGACTCTCAATAAATTAGGTA TTGATGGGACG	A A	exon_loss_variant exon_loss_variant	HIGH	HG01099.hp1 HG01978.hp2 HG02300.hp2 others(4): Show HG01099.hp1 HG01978.hp2 HG02300.hp2 HG04204.hp2 NA18970.hp1 NA18987.hp1 NA19054.hp1	a0085 a0100 a0102 others(4): Show a0085 a0100 a0102 a0107 a0121 a0133 a0162	a0085c0049 a0100c0133 a0102c0130 others(4): Show a0085c0049 a0100c0133 a0102c0130 a0107c0043 a0121c0135 a0133c0062 a0162c0090	a0085c0049t0001 a0100c0133t0002 a0102c0130t0002 others(4): Show a0085c0049t0001 a0100c0133t0002 a0102c0130t0002 a0107c0043t0001 a0121c0135t0001 a0133c0062t0002 a0162c0090t0002	a0085c0049t0001g0131 a0100c0133t0002g0233 a0102c0130t0002g0103 others(4): Show a0085c0049t0001g0131 a0100c0133t0002g0233 a0102c0130t0002g0103 a0107c0043t0001g0161 a0121c0135t0001g0232 a0133c0062t0002g0155 a0162c0090t0002g0198	7	242	0.0289	-4260	c.372 others(19): Show c.37286-283_38039-284del	TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	189/363			chr2	TogoVar
GRIN2B_chr12_13532337_13986602	13923741	AGCTCCTT others(4244): Show AGCTCCTTGTTTAAGGGCCATATTTGCTGATTACAGAAAATTTAGCCACT GTGGACCAAAAGAGGAAATAAAGTCTAAGGGTGAAGCCAGTCTACCCTCA GCCCAAATGGATGTTTCTACCATTGAACAAACACCCTACACTGTCTCCAT GACAACTCACCTACATTGCTTTTGGGCCAGAATAAGAAAGCTACTCCAAC AATAACTAACAAGGCCACTCTCTTGTAAGGAGAATTTGAAAAGGAAGGAT GAATATTTTCTTCTCAGTTTTGGAGAGAATGAAGATTCATTTCTTACCCT ATAAAAAACAGAGAATCTTACTCTTATTGTTCTTTCTTCCCAGAATCTAT AACCTGTGCCTCTGGGGGGACTAGTCAGTGCCACATTCTGGTTGGTGCTT TAAAAAGACCCGAGGCATACACTGCACACAGCATGTAAAAGCGGTACACA GTAATAGGTATATTGTATATGGATAAGATATCTAGGATAGTATCAGTCAG GGTCCCAACATAAAACAGATGGCAACTCCAAATGGGAAGATAGAGGAGAG TTTAATGAAGGGACTATTTTAAAAGGTGTGGGCAGAGTCTAAGGGAACCA ACAAGGACTGGTGAAATGCCCAGGCTCTGACAACTGTGAGAGCTATTATC ATCCCTGCTCCCCCAAAGAAGAAAGGTGAGGGAGCTGCTAATAGAACCCA GCAGGAGCTGGACGTGTATGAGTGGCCACCCTACAGGAGCTCTGGCTTTT GGGAGAAGAAGGCAGGGATTCTCAACCCACAGCACAGCAGGGATAGAGGG AGCTGGGGAAAGGGCCATCTAACCTCACCCTCCTGACTGCTCTCTCCTGG CCAATGCTAACCAGATCCTTAGGAAATCCACTGATCCTGTCTACAGGGTT CAGTCTCATCACGGTCAAAGCAGAGTGAGAAGAATGGGAAGAGGATCTAG AAGAGCAAAAAGAGGAATATCTGTATCTTCACTGATATCTATATCTATAT TTCTCACACCATGGCAACTTTTCACGTATTCCTCCAAAGTGTGTAATTTT TTAACCCTTCTATTTCTGTGTGAGATCTCCTTATCCTCTCTAAATGGTAA TCTGCATTTTATTTAAATTTCACAGTTTTACACCCTAGAGCATAGGGTGC AAAAGTGGTATTTTCCTATTTCCCACTATCCATGCCCAGTCACAGACATG GACAAAACCTTCCTTAAGGCTATAATCATGAAATAAAAATGAAGGCAATG GTAGAAATGCTAACTGTCCTCCAAAACCTCAAAGGACAAAGAAAATCTGT GCTTTAACAATACATAAAAACCAGAATCCAGGTATCATTTAATGCACACC TGAAACGAAAACCTACACTAAGAGGACAATGAAAAACAATGGCTGAAGCG CCAGTGTTGCCTTTGACTATGGCACTGACCTCCACTTAGCCTGACTTCAC CTTAGAAACAGCCCTCAGCAGCTCCCAGTCTTTGACTATAGGCAAAGTCC AAGGCTTCCTATAAAAACTTGACCCACGACCCTGGTTTCTGCAAAATCCT ATTTTACGAAGCATAACAGAGCAGGAATAACAGGAAGAAATTAAGGAGTA ATTTAGGAATGTGATGTTAGAAGAGACTCCAACAAAAGGAGAGCTGTTAT GTCACAAAAGGACTGCAAAAGAAAGTAGGACAGCTGTCATTTTTGAGATG TTTACTGACAGAATCTTCAAAGCACAGCTTCTTTTTCTGATTTCCACCAT TTTGAAAAGAAACATGTTTATGGCTCAGCAGGTCAGACCAGCACTTCTTA CACTTTATCTCTCCCTGGACAGTGGCACCAGATGCTTTATGATCAAGCTG AATTCACCATCACCTATGGCATTAGCCTCACACTTAAGGAAGGACCCCCG AAACACCCCGCACTTCCCTAACAGCCTTAAAACTAACCAAGCCCAATAGT CACCTTACTCCACCTTTCATTCCTGGCTATTAAAATTCAAGCATTTCAAA GCTATTGAAGCTATTAATAGTGCAATTTTGATGAGCTAGTTCAAAGTCAG CACTAATGACCTGTTGATGATTTTAATGGTTTTTACAATAAGTACTGCGA ATGACCTATTGTTAAAATACAGAGTGACGGGCTTTTACATTAATCCATTA ACTCTTCTTTTCTCGTCATTCTTTCCAGACTAAACTATTTTCCTCCGTTC AATTTGAAGAGTTCATAGATAAAGAAAACTAAAGTACACAGAAAGAATAC GTTTTAGCAACTGACAATCAGAGGAGGCAATGGAACGGGGCAAGAATATG CCAGATCTGAAGTAAAGGCCAAGTCCTGTGTGTATGAAACTGTGGGTTAG AGAGGGAATAAATCCATCTGGGGCACACTTAGACCAAGGAGAAGAAAGGG AAATGGTGCAAATTGAGAAGGCAGAAAATGAGAAGGTGTCGGAGATGGAC AGAATGACCAGGCCAGGGAACTACTAGAATCCAGAATCTTTAAAAAGCCA CTCCAGCTTCAGCAACACACACCCAATGACAAAAAGCAACATCTATCCCC CGTTCGTCACTTCCAGGTTCACTGCTCTTGTTCTGTACCTTATTGAATCT CGGGGCTATCGACCCTTGCCTGGTGTGTATCCTTAAGCCCATCCACACCT AAACAATGTGCATTGCTTTCCTCCCGGGAGCAGAAGCAGCTACTCTCCTG ATTGGTTTTATCCTTCTCCAGTTGACAGCATGTGCTCAGAGACCACCTTG TACGATAACCCTCCTTCCCCAGTTTCTCCAGCATCATCCTGCCCCATGGA TGGAACCTGGATGAGAGCTGAGAAGGATGTCCAACAATTATAGAAGGAGC AGAGTGAGTCTACAAATGAGCAAAGTCAAGGACTTTACCACCTGCCTGGC TCTGCCTGCATTTTTAAAAAGACAAATTTGTGGCCGGGTGTGGTGGCTCA TGCCTGTAACCCCAGCACTTCGGGAGGCCGAGACGGGCGGATCACGAGGA GAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCAAGCTCTACTA AAAATACAAAAAATTAGCCGGGTATGGTGGCAGGCGCCTGTAGTCCCAGC TACTTAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGTGGAGCT TGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGGACAGAGCGC GACTCCGTCTCAAAAAAAAGAAAAAAAAAAAAAGACAAATTTGTATGGAA GGCATTTAAGGGGATGTAAATGTGTATGGAAATTCAGGAACCAGGATACA TGGCTGAGAGCATTTGAGTGAAAGATAAAATAAGACAGATAATAATATCA CTGTAAGAGCAGAGACCACCCAACATCTCAGCCTGAAAGAGGATATTGAA AATATTTACTGAAAGAAATCACAAAACTGGCAGAAAGGCAAGATATGATA GCGATACAAGATTTCAAGTATTTAGACATGCTAGAAGTTTAATTCTTTTA AAACAGGGCATCTGATTTTTCCTTCTAACAGCAGTATTTCCCTGGAGGTT AAGAAATCTTTGAGAAGAGCTGCTATCGGGGGTTTAATTTTCCACCTCAA GGAAGCCTTAGTAACAGGCTAGAAATGTTTTTTTCTGTAAAGTGACAGAT AGTAAATATTTTACACTTTGTGGGCCATATGGTCTCTGCCTCTGTCATAG CTATTCGACTTTGCCCTTGTAGTGCAAAAGCAGCCATAGACACTACTAAA CAAGCAGATGTGGCTGTGTTCCAATAAAACTTTATTTATAAAAACAAATA GCAGACCAGATTTGGCCTACAGACTGTAGTTTGCCAACCCCTGCCCTAGA TGGTTATATGGAACTAACGATGTCCCAGTGAGAAAATGACCACACCCTAC CAGTGTTTATATTAGCTAACAGAGAGGGTGCAGCCATATGCAGTGGCTCA CACCTGTAATCCCAGCAATTTGGGAGGCTGAGGTGGGAGGATCGCTTGAG CCCAGGAGTACAAGACCAGCCTGGGCTACATAATGAGACCCCCATCTCTA CAAAAAAAATAAAAATTAAAAAAAAAATTAGCTGGGTGTTGTGGTACATG CCTGTAGCCCCAGCTATTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCC CGGGAAGCCAAGGCTGCAGTGAGCTGTGATCCCACCACTGCACTCCAGCC TGGGAAACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAGGGGGGGT AT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0066 a0001c0005t0001g0066	1	194	0.0052	-4251	c.-19 others(19): Show c.-19+51936_-19+56186del	GRIN2B	ENSG00000273079.7	transcript	ENST00000609686.4	protein_coding	2/13			chr12	TogoVar
ADARB2_chr10_1172313_1742525	1235685	CCCCTCTG others(4240): Show CCCCTCTGCCTCCCGGTGTTTACTCCCTGTGTCCTGGTGTTACTCCCCTG CTTTCAGGTGATCCACCCGCCTGGGCCCCCCAAAGAGCTGGGATTACAGG CGAGAGCCACCACACTGGGCCCCACCATGATCTTTTAACAAGCCAATTTT TCCCACTGCTGTTCGCCCACATCTATCTGTCTACACACCTGTGATTCTGT GGATTTGCCAGTGCTGCTCATGGCCATACCTCACAGTGGACTGTGGGTTT GACGTAGCCTGAGTGGGCAGCTTGTGTGTGATTAAAAGGAGGAAAAGAGC TGTAGGAAGGCCTGGGCTCCGTCACCAGCACAGGTGGGAGTGGAGAACCG TGGCGAAACGGCTTTCCTTCTGCATCCAGCCATGACCCAGGTGGGGCGGG AGAGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCC CACCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAG TGGGCGCTGAACGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCT GTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGC CTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCT CCCGGTGTTCACTCCCCCCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCC CGGTGTTTACTCCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCA GCCATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAAT GATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAG CCCCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCATTT CCTTCTTCGGTGTTTACCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCT CCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCC CGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCG GTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGT GTTTACTCCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTG TTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTT TACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTA CTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACT CCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCC CCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCGGTGGTTAATTCCCT CTTGCCTCCGGTGGTTAACTCCCCCCTGCCTCCGGTTGTTAACTCCCCCC TGCCTCCGGGTGTTAACTCCCCTCTCCCTCCGGGTGTTAACTCCCCCCTG CCTCCGGGTGTTAACTCCCCTCTCCCTCCGGTGTTTACTCCCCTCTGCCT CCCGGTGTTTACTCCCCTCTGCCCTCCCGGTGTTTACTCCCCCCTGCCTC CCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCC GGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGG TGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTG TTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTT TACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCA CTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACT CCCCCCTGCCTCCCGGTGTTTACTCCCATCTCCCTCCCGGTGTTTACTCC CCTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCC CCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTC TGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTC CCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCC TCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTC CCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCC GGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGG TGTTTACTCCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGT GTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTA CTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTACT CCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCC CTGCATCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCT GCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCC CTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCT CCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGG TGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTG TTTACTCCCCTCTTCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTT CACTCCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTC ACTCCCCCCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTCAC TCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTC CCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCC CCCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTG CCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCC TCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTC CCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCC GGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCTCTGG CGATACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTTCCTCCCGGTGT TTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTT ACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTAC TCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTC CCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCC CCCTGCCTCCCGGAGTTTACTCCCCTCTCCCTCTCCCTCCCGGTGTTTAC TCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTC CCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTTACTCCCCCTCTCCCTCCCGGTGTTTACTCCCC CCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTC TGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTG CCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCC TCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTC CCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCC GGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGG TGCTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTG TTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTT TACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTA CTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACT CCCCTCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTCACT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0034 a0007c0011t0034	a0007c0011t0034g0076 a0007c0011t0034g0076	1	106	0.0094	-4247	c.136 others(19): Show c.1361+2199_1362-1841del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ZNF677_chr19_53230381_53259873	53231017	CAGAAAAC others(4240): Show CAGAAAACCTGACCTGGGTAATTTATATGTATGTATATAATTTATGTATG TGTATATATATAATTTATTTCTTCCAGCTCTGGAGGCTGGGAAGTCCAAG GCTGAGCGGCTACATGTGGTGAGGGCCTTCTTGCTGCATCATAACAGAAG TCATCACATGGTGAGAAGGAGGAAGCATGCCAGCTCAGCTCTCTTTTCCT CTTCTTATAAGGCTACTAATCCCAACATAGGGAGCCACCCCCATAACTTC ATCTATCCCTAATTACCTCCCAAAGGCTCCCACCTCTAAATACCATCAAC ATATGGATTTGAGGATTCAATTTCCAACATGAACTTTTGGGGAATACATT TGAACATGGCACCCAGTCACCATTTCCTAAAAGAATAATACTGCAGGTAC CCAAAACAACTGAACAAAGACATTAGGCACCATTTGCATTCCCTCTCAAA GTTTCTAAAACCATCTCCAGTTTTGAGGTCAATATGTCTCAGCTACTTTT CTATACTGCAATGTCCTTTGTCCACTTAACAGTACCACCACTGCAATCTG GTGCTCAGAACTGTTTTCCAGAAGGCGTTTCCTGTATGGTTCTTGCTAAA CTTTGCCAATGAGAAAAACCTGAATGGGCCAGGCGCAGTGGCTCACAACT GTAATCCCAGCACTATGGGAGGCTGAAGTGGGTGGACTGCTTGAGGTCAG GAGTTCAAAACCAGACTGGGCAACATGGCGAAAACCTGTCTCTACCAAAA ATACAAAAATTAGCCCGTCTCTTAACCCGGTCTCAAAATAAATAGATAAT AAATTAAAAATAAAAAAAAATTTAAAATGCTGTTAAAAAAAAAAAAAAAG GAAAACCTGAATGGAATAGGAAAGGCAGAAGTGAAGCACTAAGCCATTAA TCTCAGATGAATACTGCACAGACCTCACCATCTCTAATCCCAATCAAGCA GCCAGAAGCAGTAACTTCTAAGACATCTCCATGAGCTCTGGTTTCTCACT GAAGCTGCCAGTGACTATTTTTCTTTGATATTCCTGCTGGAGTCTTCCAC ACCTTTCACTGCTCAAGCACCTCCAAAATTCTTTTTATTTTATTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTGCAGTGGCAC GATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTG CCTCGGCCTCCTGAGTAGCTGGGACTGCAGGCCCCCCACTACCACGCCCC GATAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAG GATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAA GTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCAAAAATTCTTAACA TATAACTATTCTTATTCTTGAAGTAATTGTATACGTTTTCCTAAACACAG ACTAATACAATCATTCAGAATAAAGCTAATTCCATGTTTTCAAAGTTTAT TCATCACAATCTGTATTACTGTATTGGTCCTGAGTCTCACTCTGTCACTC AGGCTGAGTGCAGTGTCAGTCATGGCTCACTGCAGCCTCAACCTCCCTGT CTCAAGCAATCCTTTCACCTCAACCTCCCGAGTAGCTGGGACTACAGGTG CATGCCATGACACCCAGCTAATTTTTTATTTTTTGTAGAGATGTGGTCTC ACTATGTTGCCCAGGCTAGCCTCGAACTCCTGGACACAGGTGGTCCTCTC TCCTGAGCCTCTCAAAGTGCTGAGACTACAGGTATGAGCCATAGAACATT GCCAACTTTGCCGAAATCCAGAATGCTATCAAGAAAGTGGAAAAACAGTA CACAGAAGTGGAAAAAGTACTGGCAAATCTCATAAGGGTGTAGTATTCAG AATATAAAATAACTCATAACTGAACCAAAAATACACAATCTAATTTTTAA AACATTAAAAGAAATGTCTGAGTAGACATTTCTCCAATGAAGATGCACAT GGCTAATAAGCATAGGAACAGATGCTCAACATTCATCATTAAGGAAATCC AACCACAATGAAATATCACTTGTAAGTGACTAGAAGGCTATATACTACTA CTACTGTGAACCCAACAACTACAAACATCAATAATCGATAGGAAGTGCAG AAAATGGAACACTGGAACATCGCTGGTAGAAAAGTAAAATGGTGCAGCTG CCTTCGAAAACAGTTTGGTGAATCCACAAAAAGATAATCACTGATAATTA CTATATGACCCAGAAATTCCACGTTTACAGACATACCCAAGAGAAGTGAA AACATGTATGTGCAAAAACATCTTGTAAAAAGTTGTTCATAGCAGCATTT TCCATAATAGCCTAATTTCTTTTTTTTTTGAGACAGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGTGATCTGGGCTCACTGCACGCTCCGCC TCCCGGATTCATGCCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGAGACT ACAGATGCCCGCCACCAGGCCAGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTTGCCATGTTAGCCAGGATGGCCTTGATCTCCTGACCTCGTGAT CCGCCCATCTCGGTCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACTG CACCTGGCCCATAATAGCCTAATTTCAAACAGTAGAAAGAGTTCAAATCT CCATCAAATAATGAATGGACAGACAAACTGTAGAATATTATTCAGCAACA AAAAGTGATGAGGTATTAGGCTGGGTATGGTGGCTCACACCTGTAATCCC AGCACTTTGGGAGGCCTAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGA GATCAGCCTGGCCAATATGGTGAAACCTTGTGTCTATTAAAAATACAAAA ATTAGCTGGGCATGGTGGTGCATGCCTGTAGTCCCAGCTACTCGAGAGGC TGAGGCAGGAGAACCGCTTGAGCCTGGGAGGTGGAGGTTGCAGTGAGCTG AGATTGTGCCACTGCACTCCAGACTAGGCACCAGAGTTAGACTCTGTCTC AAAAAAAAAAAAAAAAAAAGTTATGAGGTACTAACAAATGTTAATTTTGG GTGGGTGGTATTTTTTATAGTGACAGTTTGCCCAGGCTAGTCTCGAATTC CTGGGCTTAAGCGATCCGCCCATCTTGGCCTTCCAAAGTGTTAGAATTAC AGACATGAGCCACTGTGCCTGGCCTAGAAATTGATTTTTTTTTTGGACAG GGCCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCATAATCCTAGTTCA CTGTAACCTCCAACTCCTGAGCTCAAGGAATTCTCCTGCTTCAGCCTCCT GAGTAGCTGGCACTATAGAAATGTGCCACCATGCCCAACTAACTTCTAAA TTTGCAGACAGGGTCTTGACATATTGCCTATGCTAGTCTCAAACTCCTGG GCTCAGGCAATCTCCTCGCCTGGGCCTCTCAAAGTGCTGACATTACAGAT GTCAGCCTCCCTGCCCAGCCGGCTAGCTGAAAATTTAAACCACAGATGAG TATTCACTCCAGCCCCACCAGATAAACATCATAACACCCCAAGTCAATCA TCTTTCACTGCCTTCTCTAGCCATTTTTTAACCAGCTTGGGAAGTCTACC CTGTTCTCTCCAGAAAGCCTTTTGTAATAAACATTCTTATAATACTTTGA TGTAGAGTACCACCAATCCTGAAATCTAAACCAAACTTTGCACGGGGTTC CCTCCTGTTCCAGTGGAGTGGCGACAAGTGCAAATCAGTAAAAAAAAATG TTTTGGGGGTAAATACATGAGGTTTCTAGTTTCTTTAAAAAAAAAATCCA TTGCTTATGTTCATTATTAAGGGGAAACTCATGAACACTGATTTTTTTCA AATTATTTCACGGAGTGCTCCAAGTACAAAAAAAGAAGTTGTGTTATTAT TTCAGAAATTTCATTTACTAATAATTTTCATATGCTTACATTTGTTATTT TCCTCTCATGTAAAAGGCATGCAGAAATAAAGTTATGTAGAAAAAAAGGC ATGTAGAAATATAACTGCACAGTGCATATTCATGAACAGGAAGACAGGTT TCAGGGGGTCTGATATTGTCCCACTATGGCATGGCATTTTCATTATAGCC ATAGAAGTCATCTAGGGCAGAGTGTGGAGAAAATATTTCAAGTGCAAATT ATGAATATATACTTCTTAAATTGTATACTGTTTGAACATAACATGGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0069 a0001c0001t0007g0069	1	406	0.0025	-4247	c.17 others(11): Show c.1708_*5954del	ZNF677	ENSG00000197928.11	transcript	ENST00000598513.6	protein_coding		4363		chr19	TogoVar
ALMS1_chr2_73380836_73614916	73481578	ATGAACTT others(4239): Show ATGAACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGGCATTGGTAG CTTGATGGGGATGGCATTGAATCTGTAAGTTACCTTGGGCCGTATGGCCA TTTTCACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCAT TTGTTTGTATCCTCTTTTATTTCCTTGAGTAGTGGTTTGTAGTTCTCCTT GAAGAGGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTC TCTTTGAAGCAATTGTGAATGGGAGTTCACTCATGATTTGGCTCTCTGTT TGTCTGTTGTTGGTGTATAAGGATGCTTGTGATTTTTGTACATTGATTTT GTATCCTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGG CTGAGACAGTGGGGTTTTCTAGATATACAATCATGTCATCTGCAAACAGG GACAATTTGACTTCCTCTTTTCCTAATTGAATAGCTTTTATTTCCTTCTC CTGCCTAATTGCCCTGGCCAGAACTTCCAACACCATGTTGAATAGGAGTG GTGAGAGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCC AGTTTTTGGGCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAAC TCTTATTATTTTGAAATACGTCCCATCAATACCTAATCTATTGAGAGTTT TTAGCATGAAGTGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATT GAGAAAATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTAC ATTTATTGATTTGCATATATTGAACCAGCCTTGCATCCCAGGGATGAAGC CCACTTGATCATGGTGGATAAGCTTTTCGGTGTGCTGCTGGATTCAGTTT GCCAGTATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGG TCTAAAATTCTCTTTTTTTGTTGTGTCTCTGCCTGGCTTTGGTATCAGAA TGATGCTGGCCTCATAAAAAGAGTTAGGGAGGATTCCCTCTTTTTCCATT GATTGGAATAGTTTCAGAAGGAATGGTACCAGTTCCTTCTTGTACCTCTG GTAGAATTCGGCTGTTAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTA AGCTATTGATTATTGCCACAATTTCAGATCCTGTTATTGGTCTATTCAGA GATTCAACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAA TTTATCCATTTCTTCTAGATTTTCTAGTTTATTTGCATAGAGGTGTTTGT AGTATTCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCC CCTTTATCATTTTTAATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTT TATTAGTCTTGCTAGCAGTCTTTTGTTGATCCTTTCAAAAAACCAGCTCC TGGATTCATTAATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGT TCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTGT TTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATTT TGGATCTTTCCTGCTTTCTCTTGTGGGCATTTAGTGCTATAAATTTCCCT CTACACACTGCTTTGAATGTGTCCCAGAGATTCTGGTATGTTGTGTCTTT GTTCTCGTTGGTTTCAAAGAACATCTTTATTTGTGCCTTCATTTCGTTAT GTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAG CGGTTTTGAGTGAGATTCTTAATCTTGAGTTCTAGTTTGATTGCACTGTG GTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGTTGAGGA GAGCTTTAGTTCCAAGTATGTGGTCAATTTTGGAATAGGTGTGGTGTGGT GCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGAT GTCTATTAGGTCCACTTGGTGCAGAGCTGAGTTCAGTTCCTGGGTATCCT TGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTTA AAGTCTCCCATGATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACT CAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATATATAT TTAGGATAGTTAGCTCTTCTTGTTGAATTGATCCCTTTACCATTATGTAA TGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTATC AGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTTGCTTGGT AGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCATGTG AGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCCA ATTTGCCAGTCTTTGCCTTTTAATTGGAGCATTTAGTCCATTTATATTTA AAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGCT GGTTATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTTGATGGTCT TTACATTTTGGCATGATTTTGCAGCGGCTGGTACTGGTTGTTCCTTTCCA TGTTTAGTGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTAGTGGTGACA AAATCTCTCAGCATTTGCTTGTCTGTAAAGGATTTTATTTCTCCTTCACT TATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTTT CTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTATAGGGTT TCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTCCCTTTGTGGGTAAT CCGACCTTTCTCTCTGGCTGTCCTTAACATTTTTTCCTTCATTTCAACTT TGGTGAATCTGACAATTAATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTA TCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAATGTTGGCCTGCCTTG CTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAAC TTGGTTCCATTCTCCCCATCACTTTCAGGTACACCAATCAGACGTAGATT TGTTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTT TTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCT TCTTCCATCGCTGATACCCTTTCTTCCAGTTGATGGCATCGGCTCTTGAG GCTTCTGCATTCTTCACATAGTTCTCGAGCCTTGTTTTTCAGCTCCATCA GCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTACACATTCTTCT AAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTC CCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGT CAAAGTCATTCTCCATCCAGCTTTGTTCCATTGCTGGTGAGGAACTGTGT TCCTTTGGAGGAGGAGAGGTGCTCTGCTTTTTAGAGTTTCCAGTTTTTCT GCTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGAT GATGGTGATGTACAGATGGGTTTTTGGTGTGGATGTCCTTTCTATTTGTT AATTTTCCTTCTAACAGACAGGACCCTCCGCTGCAGGTCTGTTGGAATAC CCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGAGGTGCCTCCCTGTT AGGCTGCTCAGGGGTCAGGGGTCAGGGACCCACTTGAGGAGGCAGTCTGC CCGTTCTCAGATCTCCAGCTGTGTGCTGGGAGAACCACTGCTCTCTTCAA AGCTGTCAGACAGGGACATTTAAGTCTGCAGAGGTTACTGCTGCTTTTTG TTTGTCTGTGCCCTTCCTCCAGAGATGTAGCCTACAGAGGCAGGCAGGCC TCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCAGGCTGCTTTG TTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCGC TGCCACCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGAC TCCGTGGGCCTAGGACGCTCGGAGCCAGGTGCGGGGTATAATCTCGTGGT GCGCCGTTTTTTAAGCCGGTTGGAAAAGCGCAGTATTCGGGTGGGAG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0031 a0002c0004t0001g0031	1	248	0.0040	-4246	c.767 others(19): Show c.7675-8052_7675-3807del	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ECPAS_chr9_111355685_111489383	111466265	GTGAAACC others(4238): Show GTGAAACCCATGTCTAGTAAAAATACAAAAATTAGCTGGGCATGATGGTG TGCATCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTG AACCCGGGAGGTAGAGGTTGCAGTGAGCCATGATGGCGCCATTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAATAAAAAAAAAGAAA GAACAAAAAGAACATTTGATCTCAAAGGAAAAGTATCAAAACCCTGAGAA TCTTAAAATTCCAAAACAAAACAAAAATCCAGTTTAGCTCATGTTAACTA TGACATTCTTGTAGGAGGAAAAAAAATCTACTAAAAATATAAATAACTAA ATACACACACACACACACACACACACACACACACACACACACGTTTTTAT TTTGGAGACAGGGTTCTGCTGTTGCCCAAGCTGAGGTGCAGTGATGCAGT TACAGCTCATTGCAGTCTCAAGCCATTCTTCCACCTCAGCCTTGGAAGTA GCTAGAATCACAGACATATGCCACTGCACCCAGCTAGTTGTTTTATTTTT TGTAGAGATGAGGTCATCCTATTTTGCCCAAGCAATCCTCCCACTTCAGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCTCATTT ATTTTCCTTTAAATAATTCAAATTTATCTTATTCGCCTGTCTTTAGTTTC TCTATCTAAAGACGAAGAAGGAACACTCCCTCCTCCTACCCGCATAAAAA GAAAACGACCAGTAAAGGTTTAAAGACTTCAGCACATTCTTCAGATCTCT CTCAAAAACACAACTTTAACTTCTAAATTAGGGAGGAAAAGCTATTTTCT TACAGGACTAGAAAAAACAATAAACCTACAATTACTTATTTTTCCCTCAC ATCATTATTAATGGAAAAAGCATGTTAAAAAAGAGAAGAGAAAAAAGAAG AGAAGAGATGAGAAAAAAGAAGAGATGAGAAAAGAGAAGAGAAGAGAGAA GAGAAGAGAAATCAGTTTCCTTTCAGGACAACCTGAACATCAAAATAGTC CTTTAAAATTATACAAGAAAAGTATACTATCAAAAGGAATAGAGAAAGGA TTCTATTTAAGGCAATGTTATCCCTGTTTGGTTGAATTTCAGAGGATTCT TTCTGGTTTGTTTAATTATGTGTCATTACTAACTTACTTCATGAGCACGA ATTACTTGCGTGAATTTCTGAGTGACAGGTTTCAGGTTTTTTAAGGTTGC TTAAATTTTCTACAAAAAATATTTTTTTCCTGAATATGAAAGTAAATTTT AAAATACAAATCAGGTTAGAGGTCTTAAGTAGAAGCTGAAATTGAAGAGA AAGCTGAAAATACCTAAGACCACCGCTAACACCACACGATATTTTTTAAA AGATCTATCAAGTTACTACAGAAATATATTACACTATAATAGACGATTTC AGAAAGAAATATTCTCTCTAATGGTATTTACTTTCTTCTGATTCACAGAT ATAAGTATATAAAATACATCACAGTCACAAAGCAGTTTCACATGGCCTTC TGAGCCTCAGAAAAATGTTGTGAGGTGCACTTATAGATGCATTTATAGAC TCACCACCTAACTGACCTGCCAGAGGTCACCATGTGAATGATACACAGAT TCAGAAGCTGAACCCAGGACCTGAGGTCAGGAGTTCAAGACCAGCCTGAC CAATATGATGAAACCCCATCTCTATTAAAAATATAAAAATTACTCAGGCG TGGTGGCATGTGACTGTAGTCCCAGCTACTAGGAAGGATGAGACAGAACT GCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGC ACTTCAGCCTGGGCATCAGAACAAGACTCAGCCTCAAAAAACAAAACAAA ACAAAAACAAACAAGCTGAACCCAGAGAGGGCTTTACCCTCCAAGCGCAC ACTGGAACACAGTACCTGCCTGTAAAGAACTTCTAGTAAAGCAAGTAGTA TTAGCTCCAATTTACAGTTGAGGAAACAGAGCCTTGAAAACATTCTGTTG ACCAAGATTCCAAAACTACTAAGTGGCAGGGCTGATTCAAACCCTAGACA GTCCAATGCTCCTTCTAGCACACTAAATTATAACATGGTTTAAGCGAGAA AGTAGGTGGAGAAGATACTAAATCTTACTAGACAACTGTATACGACGTGA CTCCAAACCAGCAGAGATGCAGCAGTTACTGCCGAGAGAAGGAAAGGAAG AGAACAGAAAAAGATGAAGAGGAAGGGGTGAACCAGTAAAAGGGCAGAAA ATCAAGCACTCTTAAAACAAGGCCTTTTCCTAGGACATACCAATTCTGGG CAAAGAGAGTGAGTGAGAGAGAGAGAGAGAGAGAGAGAGCGAGCGTGTGT GTGTGTTTCATGTCCAAGCTCAAACGTGTGTGTGTGTGTGTTTCACGTCC AAGCTGAAACATTTTCAGAAGTGGGAGCCCAGAAACTAAGAAAAGAATAA GAAACTAAAGTATAGGGAATTCACAAAAATTGGAAATATCAGGCTGGAAG GTAGGGAAGAGAATGGACTCTGACAGTCAGTACAATTAGGAGTTTGAGGC TAAAACTATGGAAAAATAAGGAAGCCCTAGTTGGCATCTAGATTTTGTGT GTAATACTAGTATTTTCTGGTAGATCAATCCTGTGAATTATAAATCTAAC CAGATACTAACCGGAAGTTAAAGTCCACTTCATCTATCTGAAATATCATC TCAATTCCCCAAAAGCCACGCTAATACTTGGCAAAACCCAAATGAGGCCA GCAGGATGCTTCTTTAAGAATTAATTAGCTGAGCGTGATGGCAGGCCCCG TAATCCCAGCTATTTGGGAGGCTGAGGCAGGAGAAATCACTTGAACCCAG GAGGCAGAGGTTACAGTAAGCCAAAATTGTGCCACTGCATTCCAGCCTGG GCAACATAGCGAGACTCTGTCTCCAAAAAAACAAAGCAGCCGGGTGCAGT GGCTCACACCTGTAATCCCAGCACTTTGGAGGCCAAGGCAGGTGAATCAC GAGGTCAGGTGAATTTGAGACCAGCCCGGCCAACATGGTGAAACCCTGTC TATACTAAACATACAAAAAATTAGCTGGGCGTGGTGACGGGCGCCTGCAA TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGATTTGAACCCGGGAGG TGGAGCAGTGAGCCGAGATCCAGCCACTGTACTCTAGCCCAGGCGACAGT ACGAGACTCCGTCCCGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTCGGGAGGCCGAGGTGGATGGATCACAAGGTCAGGAGATCGAGACCAC CCTGGTTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGC TAGGCATGGTGGCGGGCGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGC AGCAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGAGTGACAGAGCGAGACTCTGTCTCAAAAAA AAAAAAGACGCCATCTCAAAAAAAAGAATGTCTAGAAATGTGATCTCTAC TCCTGTTTGTAAAGAGTTACCCCCATCCCCAGCCTTTTTTACAGAACTCA ACAGATGCAAATGTACTTAAAAGGAGAATGTCAGGCAGTCTAGCAGAAAA CATAAATATAAGTTGGGAGTGGGGAGAAGATCCATTACCAGAAAGAGACA ATCCATCAAGGTTCCTGCAGGAGCTGCCTCTCTCCAGCCAGGGCCCAAGA GGTGGCAATGAGTACCTTCACAGGCAACAAAGTCCTGAGCAGGAGGTCCC TGCTGATGGAGTCCTTTGCTAGTAACTCTGCCCACCCCAGAATTAAGGCA ATCAGACAGATTATCTTTCTGTTCCCTAGTCCACCAGTCTGTCCCCCAAG GGCCCAGGCAGATACCCTAATCTGGAAACCCTTGCATCTGGATCTACTAC AGGCTAGGCTCTTTAAACAGGGAAGAGGAAAAGAGTCTTTCTTTCCCTGG CCTTTTTTTTTTTTTTAGTGAAGTCTTGCTCTGTCACCCAGGCTGCAGTG CAGTGGCGCAATCTCTGCTCACCACAACCTCCCCGTCCCGGGTTCAAGTG ACTCTCCTGCCTCAGCCTCCCGAGTAGCGGGGACTATAGGCATGTGCCAC GACACCCAGCTAACTTTTTGTATTTTTAGTAGAGATGGGGTTTCAC	G G	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0331 a0002c0004t0001g0331	1	354	0.0028	-4245	c.22+ others(15): Show c.22+2387_22+6631del	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	2/49			chr9	TogoVar
COL26A1_chr7_101357875_101564024	101357970	CAATTTTT others(4230): Show CAATTTTTGTATTTTTTTTTTTTTTTTTTTTAATTTTTATTTTTTTTATT GATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGA CAATAGTGGAGGGAAGGTTGGCAGATAAACAAGTGAACAAAGGTCTCTGG TTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGG GTACTTGAGATTAGGGAGTGGTGATGATTCTTAACGAGCATGCTGCCTTC AAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAAC CCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGG TCACAGATCAACAGGATCCCAAGGCAGAAGAATTTATCTTAGTACAGAAC AAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACACGGCAACC ATCCGATTTCTCAATCTTTTCCCCACCTTTCCCCCCTTTCTATTCCACAA AACCGCCATTGTCATCCCGGCCCGTTCTCAATGAGCTGTTGGGTACACCT CCCAGACGAGGTGGTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GTGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCTGGGCAGAGGCGCCCCTC ACCTCCCGGACAGGGCGGCTGGCCGGGCTGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGTGCCCCTCACCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGTCGGCTGGCCGG GCGGGGGGCTGAGCCCCCCACCTCCCTCCCAGACGGGGTGGCTGGCCTGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCACCTCCCT CCAGACGGGGCGGCTGGACCGGGCGGCTGACCCCCCACCTCCTCCCGACG TGGCTGACACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTAGCCGGGCGGTGAC CGCCCCCACCTCCCTCCCGGATGGGCTGACCCCCCCACCTCCCTCCGGAC GGGGCGGCTGGCCGGGCCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGCCGGGCGGAGACGCTCCTCACTTCCCAGACGGGGTGGCTG CCGGGCAGAGGGACTCCTCACTTCTCAGACGGGGCGGCTGCCGGGCGGAG GGGCTCCTCACTTCTCAGATGGGGCGGATGCTGGGCGGAGGGTCTCCTCA CTTCTCAGACGGGGCGGCTGGGCAGAGACGCTCCTCACCTCCCAGACGGG GTCGCCGCCGGGTAGAGGCGCTCCTCACATCCCAGACGGGGCGGCGGGGC AGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCC TCACTTCCCAGATGGGATGGCTGCCGGGAAGAGGCGCTCCTCACTTCCTA GATGGGATGGCGGCCGGGCAGAGACGCTCCTCACTTTCCAGACTGGGCAG CCAGGCAGAGGGGCTCCTCACGTCCCAGACGATGGGCAGCCAGGCAGAGA CGCTCCTTACTTCCCAGACGGGGTGGTGGCCGGGCAGAGGCTGCAATCTT GGCACTTTGGGAGGCCAAGGCAGGCGGCTGGGAGATGGAGGTTGTAGCGA GCTGAGATCACGCCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGT GAACCAGACTCCGTCTGCAATCCCGGCACCTCGGGAGGCCAAGGCTGGCG GATCACTCGCGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAAC CCCGTCTCCACCAAAAAAGTATGAAAACCAGTCAGGCGTGGTGGCGCGCG CCTGCAATTGCAGGCACTCGGCAGGCTGAGGCAGGAGAATCAGGCAGGGA GGTTGCAGTGAGCCGAGATGGCAGCAGTACAGTCCAGCTTCGGCTCAGCA TCAGAGGGAGACCGTGGAAAGAGAGGGAGAGGGAGACCGAGAGGAGAGGG GAGAGGGGAGAGGGGAGAGGGAGAGGCAGAGGCAGAGGCAGTACAGTCCA GCTTCGGCTCGGCATCAGAGGGAGACCGTGGAAAGAGAGGGAGAGGGAGA CCGAGAGGGAGAGGGGAGAGGGGAGAGGGAGAGGCAGAGGCAGAGGCAGG GGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGCTAGTTATCCAAT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTC TCGAGCTCCTGACCTTGTGATTTACCTGCCTTGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCATGCTTGGCCATCTTCCTGTCGTCTTCTAA CAACAATCCTACAATCCTTCTTTGAGGGGAGAAGGACAGGCTCAGTATGT AACCCAGGCTGAAGTGTCATGGCACCATCATGGCTCACTGCAGCCTTGAA CCCTTAGGCTCAAGCAATCCTCCTGCCTCAGACTCCTGAGTAGCTGGGAC TACAGGCACACACCTCCACGCTTTGCTTTTTTTTTTTTTTTGTAGAGATG GGGGGGTCTCACTATGTTGTCCAAGCTGGCCTCGAACTCCTGGCCTTAAG CAATCCTCCCGCCTCAGCCTCCCAAAGCATTAGGTCTTTGTTGTTTTGTT TTTTGAGACGGAGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGCATG ATCTCAGCTCACTGCAACCCCGGGTTCAAGCGATTCCCCTGCCTCAGCCT CCTGAGTAGCTGGGATTACAAGTGCATGCCACTACGCCCAGCTAATTTTT TCTATTTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGCTGGTCT TGAACTCCTGACCTCAAGTAATCTGCCCACCTCAACTTCCCAAAGTGCTG GGATTACAGGCGTGAGCTACTGTGCCCGGCTTCCAAAGGATTAGGATTAC TGAAGTGAGCCATTGCCACTGGCCTCTACAATCCTTTTGCAAAATGTGCT CCAGTCCAGCAAACACTTCCATATTTGATGGTTTTTCTCCATCCTGTAGG CATTTTACAGACAGGAGTTTTCAACTGGTCACAGGGGCAGAGCAAGCCTC AGGGCATCTGCACCCTTAGGTTGCTTTTGGAAGAATTAGGAAAAAAGCTC CCAGGCCGGGCTAGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGC GGAGGTGGGTGAATCACCTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAA CATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAACCCGAAATGG TATTGCTTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATC ACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGC ACTCCAGCCTGGGTGACAGAGCGAGACTCCAACTCAAAAAAAAAAAAAAA AGAAAAAGAAAAAAAAAAAAAGGAACAAAATGCTCCTAACCCGGGCGAGT AGAGTACGGGCTGGATTTCTGGTCCCACCTGGGCCTGGAGCAGGGTCCAA GCCCTATGGGAATCCTGCAACATAGAAAAGACCAAAACTTGGGTCCAGGC TGGCCTTGGGCCCAGCATGGGATCTAGGACTCTGCTTTTCTGTTTATAAA AGGTGGGATTGTCCTACATCTTCCTGAAGCCCTTTTCTGGATAGGATGTC TCATGAATCTGTGATTCTAGCTACAACTTTTTTCTTTTTTTGAGATGGAG CCTCACCTTGTCATCCAGGCTGGAGGCCAGTGGCCTGATATTGGCTCACT GCACCCTCCGCCTCCTGAGTTCAAGTGATTGGCTTGCCTCAGCCCAGCCT GTAGTTGAGATTACAGGCACCTGCCACCACACTAGGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01167.hp2 HG01261.hp2 HG01109.hp1 HG01167.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0008 a0001c0001 a0001c0005 a0001c0008	a0001c0001t0014 a0001c0005t0002 a0001c0008t0007 a0001c0001t0014 a0001c0005t0002 a0001c0008t0007	a0001c0001t0014g0109 a0001c0005t0002g0118 a0001c0008t0007g0121 a0001c0001t0014g0109 a0001c0005t0002g0118 a0001c0008t0007g0121	3	174	0.0172	-4237	c.-50 others(10): Show c.-5062_-826del	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding		4904		chr7	TogoVar
GFUS_chr8_143607618_143622549	143618314	TAAAAGCA others(4228): Show TAAAAGCAGTCACGGCCATGCGCGGTGGCTCAGGCCTGTGATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCATTTGAGGTCAGGAGTTCGAGACCA GCCTGGCAAAACATGGTGAAATCCGGTATCTAATAAAAATGAAAAATTAG TCGGGGGTAGTTGCGCGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATCGCTTGACCCCAGGAGGCAGAGGTTGCAGTGAGCCCAGGTG GCGCCACCGCACCCCAGCCTGGACGACAGAGCGAGACTCCATCTCAAATA AATAAAATAAAAACAGTCACTCAGGCTGACAAGGGTAAGGGAAATGTGGT CCGCCCCCACCACCTTAACATCTTGCTATGAAAGGACGTTTCATGATGAT AACGTTTAAAGACATCCGTAAGGCGATGGCTTTTATCTGACTGGAAGTTA GCAAAACATTAGAGATGACTGAAGTGAGTCGCTGCTGGGTATGTCCACCT GCTCTGGTGATGGGCAGGCAGCGTTGCTTAATAAAGATTTCACAATTTTA GGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGG TGAAACCCTGTCTCTACTAAAAAAAAACAAAAAAATTAGCCCGGCATGGT GGGGGGCGCCCGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATGG CCTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAGACT TCACAGTTTCTAAATTGTTATATATTTCTTCCATAAAAATTTAGTTTTCT TCATTTCAGCAGTTACTAATTATGATATTAAAGTCACATAATTTGTATTC TGTTGACCATAGTGTCGAACTACACAATCTTTCTTAAGTCATTGTACTTC TTTTTTGTTTTCAGAGATGGAGTCTTGCTGTGTTGCCCAGGCTGGTCTCA AATTCCTGTCCTGATCACTCAAATTCAAGCATTCCTCCTGCCTTGGCCTC CCAAACCTCTGAGATTACAGGCATGAGCCATTGCACTCGGCTTGTACTCT TCTTTTTAAAAATTGGTTCGGCTGGGTGTGGTGGCTCACACCTGTAATCC CAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCGGGAGTTCG AGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAA ATTAGCTGGGTGTGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGC TGAGGCAGGAGAATCGCTTGAACTAGGGAGGCAGAGGTGACTGCGCTGAG ATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAA AAAAAAAAAAAAAAAGATTCAATTTGGAGACTTTTTTCTGTTGAGGCAGT AGAAACTGAAATTATCAAAGAAATCCAAAATTTCTTTTTTTGTTTTTTTT GAGATGGAGTCTCGCTCTCTCGCCCAGGCTGGAGTACAGTGGTGTGATCT CGGCTCACTGCAACCTCTGCCTCCCAGATTCAAGCAATTCTCATGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGTGCGTGCCACCACGCCCAGCTAAT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCCTCTTAGCCAGGATGGTC TCGATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCATGAGCCACCACGCCTGGCCTCCATTTCTTAGATTCAGAA ATTAGTCGTGGATTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTG CCCAGGCTGCAGTGCAGTGGCGTGATCTTGGCTCACTGTAACCTCCGCCT CCCAGGTTCAAGCGATTCTCGTGCCTCAGCTTCCCTGAGTAGATGGGATT ACAGGCGCCCGCCACTACACTTGGCTAATTTTTGTATTTTTATTAGAGAC AGGGTTTCGCCATGTTGGCCAGGCTGGTTTTGAACTCCTGATCTCGGGTG ATCCGCTTGCTTCAGCCTCCGAAAGTGTTGGGATTACAGGTGTGAACCAC TGCACCCAGCCAGTCATGGATTTTTATATATAATGTTTAATTTCACTTTA TAATCACCACCTTTATAGAGCGCTGCTCACCATCTGTCTTAGTCTGTTCA GGTCTCTGAAGCACAGAGTGGATGGCTGTAAACAACAGAAATTTATTTCT CACAGATCTGGAGGTTGGGAAGTGCAGGAACCAGGTGCTGGCAGATTCCG TGTCTGGTGTGGCCACTTCCTGGTTCAAGATGGCATCTGTGTCCTCGCCT GCTGGAAAGGGCCAGGAGCCTTTCTCTAGCCTCCTTTATGAGAGCAGTCA TCCCATCCCAAAGTCCTCACCTCCTCATACCATCACCTTCGGGGTTAGGA TTTCAACAGATAACAAATATTCAGGCCATAGATAGCGCCGTGTCTTACAG CAACAGTCTTTCTCATGCTCCTTCAGGCTTCCCAGTGCTGGAGTATTGTA AACAAAAAGAAAAAGAGCAGGAAGATAGTCTGTCTGTTCACATCTCTCTT TGATTGGCCCTATACCTTAATCTCTAACAGTCAGAAAATCCTTTATGCTA AAATTACCTTAGGATTATTTATGTGAGAATTTTCTCCTTCATAGTCATAC AAACATTTTTGTGCCAATTTCCCCTATTTTATTGGTATGCCACTCTTGTG TATTTCATGTGCAGCTTTTTCAATTTAGAAAAATATTTTCTCTAAAATTA AAGAAATGTGTTTTAAAATCCTTTCGAAAGTGAATTTGTCAGTCTTTCTG CTTGGGTTTTGGTGAGCTTTCTCTAACATTATTAATGACCTACAGTTCAT ATCAAATAGCTGTGGCAGTGAACATTCAAAATTAATTTTGTTTCCCATGA AAGACAATTAGGTATTCATCTGGGTATCCTACACCATTTCCCTTCTCTCT CAGAGCTTCTCAAATCCTGTCTACATCGTATCTGATGCTTTTGACATGTC ACTATTCCTATTCTGTGTCCAAGCAGGGAAGGGTTCAAGGTCAAAACGGA TCCAGATTTCTTCAAGATGTTCCATCTTTGGGCGAACTTAAGAAATATTG GGCCGGGCGCGGTGGCTCATGCCTACAATCCCAGCATCTTTGGGAGGCTA AAGCAGGAGGATCCCTTGAGCCCAGGAGTTTGAAGCTGTAGTGAGCTGTG ATTGTGCCACGGCACTCTAGCCTGGGGACGGAGTGAGAACTTTTCTCTTA AGAAAAAGAAGAGATAATAATAGCATTTGTAATTTTGAATTGTTTTAAGG CAGCGGTCCACAGCCTTTTTGGCACCGGGGATTGGTTTTGTGGAAGACAA TTTTTCCATGGACCAGGGCGGGGGTGGTTTCAGGACGAAACTGTTCCACC TCAGATCCTCAGGCATTGGATTCTCATAAGGAGCGCACAACCTAGATCCC TTGTCTGCACAGTTCACAATAGGGTTGGTGCTCCGATGAGAATCTGATGC CACACTGATACCAGAGGAGGGAGAGTTCAAGCTGAAATGCTCACTCGCCT GGCCTCACCTCCTGCTATGTGGCCCAGTTCCTAACAGGCCACAGACCGGA ACTGGTCCATAGCCTGGGGGTTGGGGATCCCTCTTATAAGGAATATCACT GGTCTCAGATGTGCAGTTGAATCCACATCTCTTAGTAACAAATTAAAACA ATGTACCAGGCCAGTAATTCACGCCTGTAATCACAGTGCTTTGCGAGGTG GAGGTATCACCCTTGAGGCCAGAAGTTTGAGACAAGCCTGGCCAACATAG TGAGACCCCGTCTCTACAAAAAATAAAAAATTAGCCAGAGGCCAGGCACG GTGGCTAACCCTTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGCAGAT CACCTGAGGTCAGGGGTTCGAGACCATCCTGGCCAACATGGTAAAACCCT GTCTCTACTAAAAATACAAAAAAAAAATTAGCCAGGCATGGTGAGGGGCG CCTGTAATCCCAGCTACTCAGGAGGCTGAGGCATGAGAATTGCTTGAACC CGGGAGGTAGAGGTTGCAGTGAGCTGAGGTTGTGCCACTGCACTCCAGCA GGGGCAACAGAGTGGGACTCCGTTTCAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG00558.hp1 others(145): Show HG00280.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG01069.hp1 HG01071.hp1 HG01106.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02165.hp2 HG02258.hp2 HG02293.hp2 HG02300.hp2 HG02602.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02970.hp1 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp2 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19060.hp2 NA19063.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp2 NA20300.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0004g0010 a0001c0001t0006g0026 a0001c0001t0008g0034 a0001c0001t0010g0047	148	415	0.3566	-4235	c.-50 others(10): Show c.-5087_-853del	GFUS	ENSG00000104522.16	transcript	ENST00000425753.7	protein_coding		766		chr8	TogoVar
HECW1_chr7_43107647_43571001	43340222	ACCCCTTT others(4228): Show ACCCCTTTTTTTTTTCTAAGACGGAGTATCGCTCTGTCGCCCAGGCTAGA GTACAGCAGAGCAGTCTCAGCTCACTGCAACCGCTGCCTCCCGGGTTCAA GCAATTCTCCTGCTTCAGCCTCCAGAGTAGCTGGGATTACAGTCGCCAGC CATCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGGTTCACCA TATTGGCTAGGCTGGTCTCACACTCCTGACCTCAGGTGATCCACCCACCT CAGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCT CTAATTACCTTTGAACTGTGCAAGCAATAGCCCCAGGGATCAAAAACTCT GTCTGGGGGTGGTGACAGTAATCAACACTGAAATGAAAACAAAATGCATT TTTTGATTGTTTTTGAATTTAGAATTGGCCCCCTGACACGTGAAGTAAGT ATTTCCCCTAAATTAAAGCTACAGTGTCGTCTGTTGGTGGGAGTGTAAAC TAGTTCAACCATTGTGGAAGACAGTGTGGCGATTCCTCAAGGATCTAGAA CTAGAAATACCATTTGATCCCCTGATCCCATTACTGGGTATATACCCAAA GGATTATAAATCATGCTACTATAAAGACACATGCACACGTATGTTTATTG TGGCAATACTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCATCA ATGATAGAGTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTA TGCAGCCATAAAAAAGGATGAGTTCATGTCCTTTGCAGGGACTTGGATGA AGCTGGAAAACATCATTCTCAGCAAACTATCACAAGGACAGAAAACCAAA CACTGCATGTTCTCACTCATAGGTGGGAATTGAACAATGAGAACACTTGG ACACAGGGCAGGGAATATCACACCCCAGGGTCTGTCATAGGGTTGGGGGG CAGGGGGAGGGATAGCATTAGGTGAAATATCTAATGTAAATGATGAGTTG ATGGGTGCAGCAAACTAACATTGCACATGTATAACTATGTAACAAACCTG CACATTGTGCACATGTACCCTAGAACTTACAGTATTATAAATAAATAAAT AAATAAATAAATAAATAAATAAATAAATAGTTACAGTGTCATTTTACATA TTGGTTCGTTTTGGTCACTTTTGCTATGCTATCGTATTTAAAGACATTAA CATGGGATTTATTCTTCTAAATAACAAATTAGTCAAGTAATATACAGTTA CTCATGTAAAAAATATATATCAGCTATCACAATTACTTCAAAAAGAAGTT GCAATTAACCATTTTTCATTCACATAACCAGACAGCTCAGAATTTAGCTA TTAGAGAAGCATGAGTTTATCACGTGGCAATTTGTATAAGTTAGGCAAAT GTGAAATTCTTAAAAATACAAACATCTACTGTTTATTAAACATTTATGAC TTTTCCAGTTATTTTAAAATTAATTTAATTTTAGTTTAGTTTTAGTTAAT ATAACCAGTCCGTAATACAGCATTCTAAATCATGATGACTTTTGGAAGTA CAAATCCAAGTTAGATGATACCTGTATCAAATTATAAAATTTTGACTGTC AATATGACATTCTGTAATACAATAAGATTTTTTCTGTTAGAGCCATATAT TACTTTAATGATAATTTTACTACAAAAATATCATTTGAGTAGCAAAAATA TCATGACTTTCAGGGCTGTTTATAGTAGAGCAAGGGTTTGTTGTTGTTTT GGTGCAATTTAATATGGCTTTAAAAATTATGTAATTTTATCCCTTTGAAT GAGTTCTTAGATACAAGTTGCTAAAATTAAATGCAGCAGGACAAGTATGT ATAAAAGATGACTGTTTCATTCTGGTGTTGGTTAAAAACCAGACTCACGC CTGAAAAGCTTTAACATTTTACCTTAAGGAGATTCAACAGGTAATATCAG TTTTTAAATTAACATAAATTTTCCAGTGTTTACTATGAATATTTACACTT AGAGTGGAATCATCAATGTTAGATGCCTCGTCAATGAACATTATTTCCAT TTATCCTCATTTATTTGGAAACCCTTCACCCTTCCTTTGTTTTGATCAAA AGTCACAGCCTTTCTCTAAGCTGCTTATTTCTTAAAATCCATTTAATTCA TAAAAAGAAATACAAATGGATATACTGCCATATAGGATAGACTGGCAGGA CTCAAGGTTTTATACAATTAATGTTGATTATTTCTCTAAAAGTACTGCTC TTATTGTTTCCTCTTGCTGAAACTAAACACTCTTCAGACTCAATTTATAT CACATTATTCTACTGTTACTTAATCTTTTTGAGCATCTGAAGACATTGTA CTTTCCATTCCTCCTTCTAGATAACTCTTGAGGCTAACTCTTACAGAGTA ATTATAGCTTTTTTGGTTAAAATTGCTTTTCTTGGGGTTTGAGGATATAG TCTCACATCTATTTTGTAAATGACATATTAGCAGATTTAAGTTCATTATT CTTAAGAATGTTTATACATAGAGGCCGGGCATGGTGGCTCACGCCTGTAA TCCTGGCACTTTGGGAGGCGCAGGCAGGCAGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACACAGGGAAACCCTGTCTCTACTAAAGATACAA AAAAATCAGCTGGTCGTAGTGGCAGGCATCTGTAGTCCCAGCTACTCAGG AGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTGGCAGTGA GCCAAGATGCACCACTGCACTCCAGCGTGGGAGACAGAGCAAGACTCCAT CTCAAAAGAAAAAAAAAAATGTTTCTACGTAGATAATTTGATCCTTTCTG CAAAATAAGTGACTTCACAATGGAAGGCTGTGCTGATCTATCTCTGTCTA ATTCATCAACTCTGATTATACTCTGGTTCATAAGATCTCAGTGTTTTTGC ATTGCAGATATTGTAACACCTGAGTAGCTAAAAACTTGCCATGATGTTCA GATATTCACGGTGCTGGCAAACTGCAATGTCTGGGCAACAGTATTCTTTT TTTTTTTTTTAATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGC AGGTTTGTTACATAGGTGTACATGTGCCATGATGGTTTGCTGCACCCATC AACTCGTCATTTACATTAGGTATTTCTCCTAATGCTATCCCTCACCCTGC CCCCCAACCCTATGACAGACGTGTGTGATATTCCCTGCCCTGTGTCCAAG TGTTCTCATTGTTCAATTCCCACCTACGAGTGAGAACATGCAGTGTTTGG TTTTCTGTCCTTGCAATAGTTTGCTGAGAATGATGTTTTCCAGCTTCATC CATGTCCCTGCAAAGGACATGAACTCATCCTTTTTTATGGCTGCATAGTA TTCCATGGTGTATATGTGCCACATTTTCTTAATCCACTCTATCATTGATG GACATTTGGGTTGGTTTCAAGTCTTTGCTATTGTGAATAGTGCCGCAATA AAAATACGTGTGCATGTGTCTTTATAGTAGCATGATTTATAATCCTTTGG GTATATACCCAGTAATGGGGTCAAATGGTATTTCTAGTTCTAGATCCTTG AGGAATCCCACACTGTCTCCACAATGGTTGAATTAGTTTACACTCCCACC AACAGTGTAAAAGCGTTCCTATTTCTCCACATCCTCTCCAGCATCTGTTG TTTCCTGACCTTTTAATGATCGCCATTCTAACTGGTGTGAGATGGTGTCT CATTGTGGTTTTGATTTGCATTTCTCTGATGACCAGTGATGAAGAGCATT TCTTCGTGTGTCTGTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTG TTCATATCCTTTGCCCACTTTTTGATGGGGTTGTTTGGTTTTTTTCTTGT AAATTTGTTTAAGTTCTTGGTAGATTCTGGATATTAGCCCTTTGTCAGAT GGGTAGATTGCAGAACTTTTCTCCCATTCTGTAGGTTGCCTGTTCACTCT GATGGTAGTTTCTTTTGCTGTGCAGAATCTCTTTAGTTTAATTAGATCCC ATTTGCCTATTTTGGCTTTTCTTGCCATTGCTTTTGGTGTTTTAGTCATG AAGTCCTCTGGACAACAGTATTCTTAAAGCATATTTTTATGTTGACAGAT ATCTCCTTTCAGCACTTTGAAGTTCTCATTCCCTTGTCTTCCATTGTTTC TGTTTGTGTTAAGAAGTCGTCTGTCAATATGACTCT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0010 a0003c0008t0010	a0003c0008t0010g0003 a0003c0008t0010g0003	1	182	0.0055	-4235	c.460 others(19): Show c.460+19481_461-16429del	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	5/29			chr7	TogoVar
PDE9A_chr21_42648621_42780509	42715445	GGTGAAAC others(4228): Show GGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCCAGGCGTCATGG CGCACACCTGTAATGCCAACTACTTGGCAGGGGAATCGCTTGAATCCGGA AGGCGGAGGTTGCAGTGAGCTGAGATTGCATCACTGCACTCCAGCCTGGG CGACAGAGAGAGACTCTGTCTCCAGACAAAAGAAAAAAAAAAGACTGTAC ATTGGTTACAATCAGTGAACCAACATTGACATATCCTTATCAGCCAAAGT CTATATTCCACCTCAGAATTCACTCTCAGGGCTGTACATTCCCTGGGTTT GGACAAATATATGATGACCTGTGTGTCCCATCCCAGTCTCAGACAGAATC GGTTCTCTCAGGGCTGTACATTCCCTGGGTTTGGACAAATATATGATGAC CTGTGTGTCCCATCCCAGTCTCAGACAGAATCGGTTCACTGCCTTCAAAA CCCCCTGTGCGCCACCTATTCATCCCTCCCGCCCCAAGCCCCAGATCTTT TTACTGTCTCCATAGTTTGGCCTTTTCCAGAATGTCACATAGTTGGAGTC ATACAGAATAAAGCCTCTTCAGGTTTTCTTTCACTTACTAATATGTCTTT AAGATTCTTTTATGCCTTTTCCCGGCATCTTAGCATTGAAGCATATTCCA TGGTCTGTATGTATCACAGTTTATTTGCCCACTCACCTATTGAAGAGCAT CTTGGTTGCTTCCAGGTTTGGGCAGTTATGAATAAAGCTGCCATAAATAT TTGTGCACAAGTTTTTGTGTGCACATAAGATTTTAACACATTTGGATAAA TACCAAGAAGCACAATTGCTGGATCTTTTGGTAACAGCATGTTTAGTTTT GTAAGAAGCTGCCAAACGGTCTTCCAAAGTGACTGGGCCATTTTGCATTC CCAGCAGCAATGAACGAGCATTCCTGCCGCTCCACATCCTCCCCAGCTTT TGTGTTTCAGTGTCTTGGATTTTCACCACTCTGATAGGTGTATTGCAGTA TCTTCTTCTTGTTTTATTTTGCAATTCCCTAGTGACATATCATGATAAGC ATCTTCTCATATGCCTGCTTGCCATCTGCATGTCTTCTTTGAGGTGTCTG TTCATATCTTTTGGCCACTTTTAATCATCCTGAACTTTTCACAATCTATT TAGAATTAATACTGTACCGCCTCACATAAAAAATAAGGACACTGCAGCTA TATAAGTCTACTTACTCCCCTCTCCCACCACCTTTGAGTTATTGTGTCAT ATGTTTTATATCTGCATACATTTTAAGCCCCATAATACAATATTATAATT TCCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTCTTGCCCA GGCTGGAGTGCAGTAGTGAGATCTCAGCTCACTGCAACCTCCACCTCCTA GGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGA TGTGTGCCGCCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCATCATCTTGGTCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCC ACCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGATTATAGGCC ACTGTGCCTGGCCTATAATTTCTTATTTAAACAGCTAGTTGTTTTCTGAA GAAATTATGAAAATAAACTTCCAGATAGTTTTTTAATAGTTGCCTATATA TTTGCCATTTCTGATGTTTTTATTTCTTCTCAACTTCCAACTTATATTAT ATCCCTTCACTCTAAAGCATTTCTTTTTTCTTTTAATGTTTCTTGCAGTG CATATCTGCTAGTAACTAATTCTCTCAGCTTTTGCTGATTGGAACATGCC TTTTTTTTTTTTTTTTTTTTTTGAAATGATGTCTTGCTCTGTCGCCCAGG TTGGAGTGTACAATCAGTTCACTGCAACCTCCGCCTCCTAGGTTCAAGCA ATTCTCCTGCCTCAGCCTCCCAAGTACCTGGGATTACAGGCGCCCACCAC CATGCCCACCCAGGCACTCCACCCAGGAGGTGGAGGTTGCAGTGAACTGA GATCTCACTACTGCACTCCAGCCTGGGCAAGAGAGTGAGACTCCATCTCA AAAAAAAAAAAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATG TTGGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCG GCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCGTGCCCAGGCAAG GAACATGCCTTTATTTTGCCTTCATTGTGAAGGATGAGTTTTCATGGTGT GGAATTCTGCATTCACAGTTTGTTTTCTTCAAGAAGCTTAAAGATGTTGA CTCACTTTCTTTCTGGCCTCCATTGTTTCTGATGAGAAGTCAGCTTAATT TGATCATTATTCCTCTGTATGAAGTGTGTCTTTCTTCTCTGGCTGCTTTC TTTGGGGTTTGTTTGTTTGTTTGTTTGTTTTGTTTTGTTTTTGAGATGAA GTTTTTGCTCTGTTGCCCAGGCTAGAGTGCAGTGGTGCGATCTCGGCTCA CTGCAACCTCCGCCTCCTGATTCTCCTGCCTCAGCCTCCAAGTAGCTGGG ATTGCAGGTGCCCGCCACCACGCCCAACTAATTTTTAGTAGAGACAGGAT TTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCA CCCACCTCGGGCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACTGTGC CCAGGCCTCTGGCTGTTTTCAAGCTGTTGATTTCTTTCCTTTATCTTTAG GTTTCAGCAGTTGGACTATGATGTGCTTCAGTCTCATTTTCTTCTTATTT ATCCTTCTTCATGTTCATTGAGCTTCCATGGACTATGAATTTACCTTTTC AGCAAATTTGCAAAATTGTCAGCCATTACGTGTTATATGTGCCATTCTTT CTCACTAATGACCTGTATGTTAGAAAGTTTGCTGTTGTCTTTCAAGTGAC TGCAGCTTTGCGGTTTTTTATAATCTTTTTTTTCTTTGCCCTTCAAATTG GGTAATTTCTGTTGACCTGTCCTTGATTTCCCTGACTCTTCCACTGACTC CAGACTTCTGTAAGTTGATCCATGAAGTTTTTTTTTGTTTAGGATATTAT ATTTTAAAATTCTAAAATTTGCACTTGACTCTTGTTCATAGATTTGTCTC TCGAGACTCCCCTCTGTTTACGATTTACTGACGCCGCTTTTGTTTCGGTG TTTGCACGTACCTGCAATTGCTGCATTAAAGTCTCGTTTGCTCATTTTGG CATCTGAGCCGGCAAGCGTCCAGGGTGTCTGAGGGATGATTTTCTCTTGG CCATGGGTCACATTTTCCTATTTCTTTGCATGTCTATTTTTTATTGTAGA CTAAGATTATGAATAACACCTAGGAGAGACATTGGATTTTGTTATCATCC TCTGAAGAGTGTTAATTTTGCTCCAGCAGTCAGTTCCGTTACTCACTGAT CATCTGAACTTCGTGCAGCCTGGTTTTATGCTTTGTTGGGGTAGATCTCT AGACTGACCCTTCTGTGGTTTTAGTAGGAAGCCTGAGGTATTTATCAAGC CTCTCTAACTCGACTACATTTAAACTCCAAACTTTGTCTCCTCCACAGCA GGAGCTGAAACCTCTGCCACACTAGGCCCACAAACATGCGTCATTCAGGG ATCCACCAAGGAACAGGGTAGTTTATACAGAATTTGGGTCCCACTGCCAT GGCTTCCTCCTTTGGGAACTCTCCTTTCCATTTCCATCCTCTCTGACAAC CTAAAACTGTGTCATCTGACGCTTCAACCTGGAACTTTCTGCTTAAGTTT TAGCCATCTACATTATAAGGGCACTTTATAGCAAGAAATAGAATATTATT CCATTCTAGGCCAAGTACAGTGGCTCACACCTGACATCTCAGCACTTTGG GAGGCCGAGGTGGGTGGATCAACTGAGGTCAGGAGTTTGAAACCAGCCTG GCCAACATGGTGAAATCCTGTCTCTTCTAAAAAAAATTTTGAAAAAATTA GCCGGGTGTGGTGGTGCATACCTGTAATCCCAGCTACTCAGGAGCTGAGG CAGGAGAATCCCTTGAACCTGGGAGCCAGAGGTTGCAGTGAGCCGAGATG GCGCCACTGCCCTCCAGCCTGGGTGACAGAGTGAGAGTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAGAAATATTCCTTCGTTCTT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	324	0.0031	-4235	c.263 others(19): Show c.263-16324_263-12090del	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19			chr21	TogoVar
TFEC_chr7_115930152_116035763	115943510	ACACAATG others(4228): Show ACACAATGAGCCTCCCTTCAATTTGTACCTGATGTCACTTACAATAATTT TTTTAAGTTCCTCTATTTTAAAGAAATTTTAATGTACTAGATTCTTTCCT ATTTATTTTTTATATTTACTAAAGAGACTTTTGCCTCTCTCCCAAAACAA TTTCAACAAAGTAGGCATTACAAATATTATATAGGGTGGTACCATATAAA CACAGACACACCAATAAAGGCATGGCTAAAGAATGAATGTTGATAGTTGA TGCTGGCCCTTCATTTTCTGCACAACAATTTTTTAAGATCTTAAAATGTT GGTGGATTAAAAGCCTGAATGCATTTACAGTCAGAGCAGATAATACAAAT GTATAAATTGGAGTAAGGAGTGCTGCCAGGCAAAACTATGGAAAATGTAC AATCTGTTGTTATCTTAGGGGTGTACATCCACTTAAAAGCATTAAAAAAT AATTTTAAAAAAAGATTTTAAAAAGAAAGAAAATAATACTATGACAGGTC TGAATTTTTTTTTTTTTTTTTTTTTTTTTTTGCTTCAACATTTTGTGACT CCTGACTTAGAAAGTTTTGTCAGGTCTCGTATTCTACACCAACTATCATT CTTACACAAAAGCAGGAGGAATTTGGTTGTAGAGGAGAGTAAAGATTAAG TAAAAAAACTTCAAACTATTTAGAAAACTTTTTACAGTGCAAAAACAAGA GTAATAGAGTAATTAAAGATCTAATAATACTTTTAACTTTCTACTCATGT AATTTTTGTAAACATGGCTCACAAAAACACATATGGACAAAAGTGTTTCC AAGAAAGCTAAAGAGGACAACTACTACATGTTGTAGAAGCTCTTCACTCT TTCTCTTTGATTGTTATTTTTGTTTGGGTTTTGTTTTGTTAACACCGGTC AAGAGATTGTCATTGCCTGGTCATGTTTTTTTCATGTAATTTTCTCAACC TGTACGTCTCAATTACAGCTGTTCTCTATATTACTTTTCCTTCTGACCTC ACCATTTTGACCTGCAAAGAAATAGAACTTTCTGAATATTTTGATACATA GAAATAAAAACTTCATAGAATTCAAAGTGTCTTCAGGTATTAGCTTTTAT TTCCTAAGCCAACTCCAAAATATATTCCAATCATGAGCTGGAAAGGTACT CAAAGGCCAACCATGCCACAATTGCTGCTATATGCCCAAGAGTATATGGT GTTTAGGAGATAAGCCCCAGGTTTCCTCTCTCAATTCAGTACTCTTTCTG CCAACCTGTGGCTTTCCCACCTTTCAAATGCATCTGTCATAAGAAATACG CTTTATATAGTGACTTGGCACACTCTTAGTAAATAAAACTGCAACAAAGA TTTCACAGGGCTTTCCTATTCTCTTTACATGTAATACTCTCATATTTTCA ATGCTATTCTTCCTTTTTTGTTTAAAATGCTGCATTTGTCTCATTTGAGT GATTCCATGACTCGTTAATAGATATGGCACATAATTTAAAATATCTCATA CTAGATAATTGTATAGTCTGATATACTTTTTATTTTTTAAAAACTGTTCT TAGTCATTTTAATGGTTGTAGTCACCTGTTCAACAAGTTATTCAAAAATT TGCTAAACTCAAACTAAAATCTTGTATGGTCTTTTTTTTTTTTCAGATCC ACTGTTTGTTAATTTCCTCATTGTCATAACATAATAATGTCATTTCTTCT TTTATTTTCTCACCCTCAAAGTAAATTTGCCTCCTCTATGCTACCCTTCC CTTTTTCCAGCATTCTTGTTTCCTGTGACTTTTAGATTATCCCTAATAAC ATTTGAAAATTTGACAAATGGATCCAGAATAATTTTGTCACGTAGATGGG TACTCCTTAGTCCATGGAGCCAGACCATGGTTCTCAGGTAGAGTCATTTT AAGAGGATACACTCTGGATTCAATCATGGGACCCTCATTGCTAAACCCTA AAGAGGGACACTGGAGTAACAGGTGAGGCCACAGCAAGCCAAGGAATAAA ATGTATTTAAACAGAATTAGTACTGAGATTTTTGGAATGTCACACATTTC AGTGAAGTGTCTTCTCTACCTGTGATATACGGAAAAATCCACGTATAGAC ATATTCAACATCTAATTAATGTGTTTTCCATTAGACCCCAAATAAATGTT ATTTGCCTACATACAACACAATAGAAATAAAACAAATAATAACCCTCCTT TCTGAGATTCATAAGGAAGAGAAAAACAATGCTTGCAATGCAGTTTTCCC AATTCTGGTCTATCATAAATTGAATTTTCATATTCTAGACCAAGGGTAGA CAAACTACGGCCCATAGCTTATTTTTGTCAATAAATTTCACTGGATGAGG TCAAGCTCATTCATTCCATGTTGTCTGTGTCTGCTTTCATGCTACAATGC CAGAGTTAAATAATTGTGACAAAGACTTTTGTATGGCCTGCAAAGCTTGA AATATTTACTATCTGGCCCTATACAAAAAGTACTTACCATTCTATGTTCT AGAAAATGAATTAGAACTAGAAAGGAGTCTTTAGATAAAGTTTTTATTAA AATTTGGAGTAATAATCTCTCATAAAACTTTATAACTTGCAAACTATTCC CATACACCTTATTTGATTTTATTTTTATAAAAACACAGGCATATAGGGAA GACAAGTGTTTTCTTTAGCTAACAGAGTCACATGTTTAGAGACTTTAAAA GATTTGAAGAGTTTGGAGTAGAGTCTAAATTAGGCCTGAGCTCTTCAGAC CCTAAATGTCTTCACAATCTAGTATGTACATAAGGACAAATATTGCATTC CCTTTTCTAACAAATTGTTGAATTGTCCAAATAAATGAGCAAATTCGGAT TTAGAGAAAAAGTGCTTTAAAATCTCAGAAACATAACGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGGGTCTTATTCTACCACCCA GGCTGGAATGCAGTGGTGCGATCATGGCTCACTTAAGCCTTGAAATCCTG GGTTCAAGTGATCCTTGTGTCTCAGCCTCCTGAGTAGCTTGGAGTACAGG TGCATGCTACCATATCAAGCTTGCTCTTTCCTTCTTTCTTTCTTTCTTTT TTCTTTCTTTCTTTCTCTCTCTCTCTCTTTATTTTCTTTTTCTTTCTTTC CTTCCTTCCTTCTTTTCTTTTCTTTTTTCTTTTCTCTTCTTTTCTTTTCT TTTCCTTTCTTTTTTTTAGAGGTCGGATCACACCCAGGTTGATCTTGAAC TCCCGGCCTCAAACAATCTTCCTGTTTGGTCCTCCCAAAGTACTGGGATT ACAGGCATGAGACAATGTGCCTGGCCCACAAGTATCACTTTATCAAACAT GATCATTTCCGGATAATGAATAATATCCAGTATTTGGAGAAAAAAGTTCT CAGTTTTTTTTTAAATTTATTATTATTATACTTTAAGTTTTAGGGTACAT GTGCCAATGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGC GCTGCACCCACTAACTCGTCATCTAGCATTAGGTATATCTCCCAATGCTA TCCCTCCCCCCTCCCCCCACCCCACAACAGTCCCCAGAGTGTGATGTTCC CCTTCCTGTGTCCATGTGCTCCCATTGTTCAATTCCCACCTATGAGTGAG AATAGGTGGTGTCTGATTTTTTGTTCTTGTGATAGTTTACTGAGAATGAT GATTTCCAATTTCATCCATGTCCTACAAAGGATGTGAACTCATCATTTTT TATGGCTGCATAGTATTCCATGGTGGATATGTGCCACATTTTCTTAATCC AGTCTATCATTGCTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTG AATAATGCTGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGA TTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATG GTATTTCTAGTTCTAGATCCCTAAGGAATCGCCACACTGACTTCCACAAT GGCTGAACTAGTTTACAGTCCCACCAACAGGGTAAAAGTGTTCCTATTTC TCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCA TTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCT CTGATGGCCAGTGATGGTGAGCATTTTTTCATGTGTTTTTTGGCTGCATA AATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCGTT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02165.hp2 HG03704.hp2 others(2): Show HG01099.hp2 HG02165.hp2 HG03704.hp2 NA18951.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0304 a0001c0001t0003g0318 a0001c0001t0003g0323 others(2): Show a0001c0001t0003g0304 a0001c0001t0003g0318 a0001c0001t0003g0323 a0001c0001t0003g0328 a0001c0001t0003g0330	5	394	0.0127	-4235	c.515 others(17): Show c.515+3129_516-1471del	TFEC	ENSG00000105967.16	transcript	ENST00000265440.12	protein_coding	6/7			chr7	TogoVar
N4BP1_chr16_48533726_48615180	48588246	AAGGTAAA others(4226): Show AAGGTAAAAAAAATGGCAGCATGTTCTTTCAATGTCATACTATGTTTTCT TTTTTTTTTTTTTTTGGAGATGAAGTTTCATTCTTGTCGCCCAGGCTGGG GTGCAATGGCAGGATCTTGGCTCATGGCAACCTTCGCCTCTCAGGTTCAA GTGATTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGCACCCGC CACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCA TATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCT CGACCTCCCAATGTGTTGGGATTGCAGGTGTGAGTCACTGTGCCCAGCCT CAATATCACACTATTCTCTAGCAGGCCCAATCAAGGATTACTTAATACTT TAGGGCAGCACTGTCCAAAAGAACTTCTGCAATGATGGAAATGTCCTACA GCTGTACTATCCAAATTGGTGGCCACTAGTTACATGTGACCACTAGCACT TAATTTCACTGAAGCAATTTAGACAGCCACATGGGGTAGTGGCTACCATA CTGGTTTGTGCAAATCCAGCCCTTGGACCATTTTGTATATACAACCCCTG AGGTAAAAATAGTTTTTACATTTTTAAAGGGCTGTAAAAACCAAAACAAA AAGGAATATAAAACAAAGACTTTGTGGTCCACAAAGTCTACAATATTTAT CATTTGGCTCTTTAGAGAAAAAGTTTGCCAATGTACATCCTAGGAGAATG TATTTTTTTGCTTGACATATTTACATTAAATAACATCCAGAATCTGTGAA ATTACATTATAACTTGTAGATTTTTGTCCAGTATAGATACAGATGATTTC TGTCTGGCATAAAAGACAATCCCAAAGATCATGGTTTCATTATCTTGTAA GACTGTAATACTGTGAAATATGTATTTCCTGGCATACAACTTTTAAAATT TTTAGAATTTGAAAGTGATAGTCTTTTCATATCCTAATGAGTTCAACTAT GACTGGCATCCATAGGTAGTAGCTTCAGGATGGGGTTGGTCAGCAGAGAC CAAAGTAGGATGACAGGGTCTCAACCCTACTTCCAACCTCTCGGGAAGGG AGAGGGGCTGAAGGTTAGTTTGATCATCAGTGCCAATGATTTAATCAATC ACGCCTATGTAATGAGGCTTCCATAAAAACCCAAATGGACTGGCTTTGGA GAGTTTCAGGATAGCTAATACCTATCCTGAAGGGTGTTGTTCCTGGAGAG GGTATGGAAGCTCTAAGCCCTTTCCCTCATACCTTGCCCTATGCATCGCT TCATCTATAACCTTTGTAACAGCCTTTACAATTAACCAGTAAGTGTCTTG CCCAGAGTTCTCTGAGCTGCTTAGCTAATTAACAAAACCCATGGAGTGAG TTGTGAGAAAATCGATTTATAGCCCATCAGTCATAATCACAAAACAACCT GGGAAACTTTTCCCTAGATCCCTACAAGGGTATAGAACCTGCCAAAGGAA TTCACTTTGTAGACTGGTGAAACCACCTTTGCAAAAATTATAACTGAGGA AATTATGACAGTGAAAGAGATCAGACCTAATTGACTCCATCTTGTATCTA ACCTTTGGGCTGTTCTTGTTCATTGCTGGGTGTAGGTCGAAATAACCTTG GGAAGGAATTCAGTTTACGGTTTGACTCTGAAACAAAACTGGTAACAGCC CTTTCTCGGAAAGACCCCCTTCTTGCTTGGGGACCAGTCTGCCTTTGAAG GACTAACAAATTAGCTACAAGATTAGAAATGATGGTTTAGGAGTCATATA GCTTCTGGCTCCAAGAGTCTGAACCTCCCCAAATTGCTCCTGGGGATAAC ATCACTATTGTAAAACCTAAAATTAGTGGTTGAAATATTTTGCAGACTCT GCACTCAATGAATCAGCTGACACCACCCAGATCCATATTCTGGCTCAACC AATTCTGCCATCCCACCCAGGAACAGAAGACAGCAAGAAAACCTCACTTT GACCCCCATGATTCCATCTCCAACCTGACCAATCAGCACTCCCCACTTCC CAAGCCCCTACCTGCCAAATTATCTTTAAAAACTGATCCCTGAACGCTGG GGGAGAGGGTTTTGAGTAATAATAAAACTCTAGTCTCCCACACAGCCAGC TGTGTGTGAATTACTCTTTCTCCACTGCAGTTCCCCTGTCTTGATAAATT GGCTCTGTCTAGGCAGAGGGCAAGGTGAACCTGTTGGTTGGTTACAAATT TGGAGGCTTGTCCAGGATTGCTCTTGTGGCTACCTGCCTGTGGTTTGGTA GCACCCCTCTGGCAATGGATCCAGAGGCCAGCCCAAGCGGCTGCCTAGTT CTCTTGGATTGGTGGCTGACTCTGACACTGTCTCTACCGACAGGGCACTG CCAACCCAATGTGCATGAATTTAATTGCAATGGAGAAACAATCCTGGGCA GATGTCCAATAACTGTTCCCCTATCACAGGGTGTCTGGCTCAGTGAGTAT CCTAGGCGCTGCCACAGCTCCTTCCTTCTCCCAAATGGTTCCATAGCCCC ATGGTGTGGTATGTGTCTGCAGCTCCATCACCGAGTGTCTGTCTTGGTTC GGCTCCTTTGGGGTCTCAGTTGGCTCTCCTTAATTAGTAGGAAGAGTCTT AGTTAGGAAGACTTCTCCTCAATCCAGAAGATTTAGGGGAGATTTCTCAG GCAGAGAATAGGAGGATAGTTTGGAAGGGGTACTCTGAAATTATTGGTTA GGGATCTTGATTTGGAAGCTCTTCTGTCTGTCTTGTCTTTGTGTGTTTCT GTATATGGTGGGGATCTCTGAAGGAACTGCTGACAAAAGTCAAAAATTAT CTTGAGCAATTAAAAGCCTTTGCAAGCTTGAAATTGGCTCCTCTAAGCAC CTTCTGGGAAGAGCAATAGAACCTGCTGAATGTTGTAACTCAGTAGACAA GGCTTTTTGTCTTTTGACAGTGGCAGCCCAGGTTGAATTCTTGGCTTCGG AAATGATTCCTTTCTGGTTTGTTACTTAACTTTCCCACTTTTTGAGGGTC CCACCCCCACCCCAATGGCTAGCTTCCGATTTCCTGTCTTGAATTTTTCT TTCTCCAAACTGCCCTTGGGAAGATTCTAAATCTTGTAAAAAGAAGCTGC TTACCATCTCTTTGAAACACCTTATGGGTCCATGGTTAAGCTGTAACCTT AGCTAAAACTTATTAATTTCACATGGGAAGTTACCTGTGGCAAAGTTCAA AAGCCAGAAATATTGACTGTCCTGGCTAGAGTCTGATAATAAGAGATTTT TAAAAAAAAATTTAAAAAGAGCTCTATGGTTAAAATCAACTTAATTAAAA ATGGATATCCAAGCTCTATTATTTTAAAAGGCCTTGGTTTTTTTTTTTTT TTTCTTCTTGGATATTGGTTGTTTTTGTGAAAAAGTTTTTGTTTTTCTTC TCAGTCAACTGAATTATTTCTCTACTTTGCCCTCCTGATGCCCACATGAG AGAACTTAAGATAATTTCTAACAGCTTCCACTTTGGAAAAAAAAAAAACC TGTTTTCCTCATGGAACCCCAGGAGTTGAAAGTGGATAGATCGCTCTCAA AATCTAAGGCTCTGTTCAGCTTTACATTATGTTACCTGACGTTTTTTTTT TTTTCCAAGTTTTGGGGGTATCAGAAATTACTCTGCATTATGGGAGAGCT GTTAGCCTTGGTGTGCAAAAATTAGGTACAAAATGTACTTTAAGGGATGG CTAATAACAGTTACAGAGGGATACTTGGCTCACTGCACGCTTTAATCAAA GAAGCATGCTCTTGGCCACCTGGAAGGTAAGGAGGAAAAATCCCCACACT CTACTGAGAGATGAGATTCCCATGGGGGATGGGCTAATTACAAAATGGGC TGATTGCCAGGAGGTGGAGGTTGCAATGAGCCAAGGTCACACCACTGCAA TCTAGCCTGGGTGACAGGGCAAGATTCCATCCCCCCAGAACAGAAACAAA AACAAAATCGGCTGACTGGGTTTGGGTTGCCAGGCAATTAAATGCATGGT AAAAGCATTGCACCGTTTTCTCCAACAGCATTTCCCTTTTGAAAATCCAG GATGCAATATAAAAATGGGACCCTTAATTTTGAGAATGTCTTTGCTTTCC AGCTGTGCCTGCTTTTTAGGCCCTAGTAACTGCATGCTTTCCTAGCCTTG TTTCGTGAAGGGCTCTGCCCTGAAGCCAGTAATC	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0048 a0001c0001t0021g0048	1	324	0.0031	-4233	c.198 others(19): Show c.198+17296_198+21528del	N4BP1	ENSG00000102921.8	transcript	ENST00000262384.4	protein_coding	1/6			chr16	TogoVar
SLC39A8_chr4_102256666_102350482	102292447	TATTCTGG others(4224): Show TATTCTGGAAGCCCTCATATATATCACTCTTGGCTATAAATTGCTCTTAC ATGAACTAATCCATCTACTTTTGAATCTTCAAAATGATCCCCATTATGTC TTCAAGAAACCCCACTGCATAAAATGCTTTCCTCCTTCCAGTTGATAAGT GCTTATAAATCTGGCATATGATTCGATGACTTTGAACCAAGTCTCCTACT CTTTCAACAGTTGCTCAATATTCCGTCATTGAAATAGAGGACTTTGTGGC TTTGCATCTATACATAATGTTAGATGCTGTTTCTCTTACTTAATCCCCAT CACCCTCACTTCTCAGGAGCATGATGGTGATGTATGGTTGTATGGTAGAC ACAGAAATAATAAGATTTAGTATTTAATGCATACCTACTCTTAGTCATAA CTTTAAAAATATTTCATTTAATCCTCATAATAATCCTGCCTTGTAGATAT TATTGCCAGTTTACAGATGAAGAAAGTGAGTTTTAGAAGTTGAAGAAACC CGATTAGTTATCAGAGTCAGATTTAAACTCAAATCTACCTGACTCAAGTA CTTTTGACAAAGATAAGTTGCACTAATGTTCATGTTACTAATTAACACCT AATGAACAATGTATAATTCAAAAATGACACAAATTTTGTGAGAAAATATA ATTATTCACTCATTTAATTTTTCACTCTGCTTTAAGCCTCCCTAATTCTA AAAGTAGAAAAATCAGCCAAGTACAGATTACCTATATTTAGCTGTAATAT AGAAAAAGAAAAAAGTTGCAATGAAATTCAACACTGAGAAAAATGTTTCT TAATCTAATTAAGGCTATTTAAAAGAAAAAGAAAACTAAAGAAAGCAACC TACTGAGCTTAGAAGCATTCCTATTAAAGTTGGAAACAAGACAAATTACC AACTATCACCACTTCTACTCAACATTGTCCTACGAGCCCTTGCCAATAAA ACAAGAGAAATAAGAGTTAAAACAATTAGAAAACAAATTAAAAAGGGCTT CTTTGCTCTTCAATATGGATGCAGAAAGTCCAAAAGAATAAACAAACAAA ACAATACTGGGAGAATTCAGCACTACTGCAGGACGCAAAACCAGTGTACT AAAATCAGTGTACTCTTACATAGCAGTAATAATCAACTAGAAAACAGTAG GAAAAAAGTTATCATTTGTGATACCTGTGGAGCTACAAAGTAATTAGGAA GAAATCTAACAGAATATTTTAAAAATATTTCTAATATAGTAAATTACCAA ACCAAAAAATCTTAAATATCATAAAAATGTAAGCTGCAGCCTAGTTAATC TCTAAATTCAATGCAATGTCAATGAAAATCTCCACAATGATATTGATATG GAAAAACAAAGACAACTTTTAGTGAAAAAACAAGGTGAGGAGCAGACCTT GTCTTTATAGCTGACTAAAAACTATAATAATTATGGCAGTGTGGTGGTAG GTCAGAGTTTTGTTTTTTTTTTCCAAATAGACAAGTGAAAGAGACTAGAA AGCCAAAATACAGATACATTAATACATACAAACTTGATACACGGCAGGAA TAAAATGATCTGTTCAGCAAAAGAAGCGAGGATAACTGCTTATTTATACA GGAAAAAACTGGATCCTCATATACAAAAATAAATTAAACTTAAAATTTTT GAAAGAAAATATGGAAGGAAATCTTAGTGAAAAGAGAAACCACAGATTTG GAGAATACATTTATAAATCATTTAATCAAGGAAAATTAACATCCAGAATA TATGTAAAACTCCTACAAATGACAGACTCTTTCTTAGACCAAATTTCAGT TAGGCTCCTCTGAGGTCTCTTCTCAACCAGACCTTCGACTTCTGTGTCCA TTTTTGCAGAATTCAGTCATAGCAAGAATCCTGCCAAGTCAGTTTAGCAA GAATCCCCTCATCCTTTATATATGATCACTCTTAATATCTGATCAAATTC CTCATTCCCTCTGACTCAGGGAAAAATCAAATAATTATTTTTAAAAAATT CTTCATTCTCCACCATCCCCAAAGTGATATATAATCACCCTGGCCTGCCT TCAGCAAGAATTCCATTAAATTGGTTTAGTAGGAATCCCCCTACCCTTGA TGTTTTCTCTTAAGAATATTCCATGCATTCTTCCCCTCTCTCTGCTAATT GGCTATAAATGCCAACCTGTCTTTACTTTATTTAGAGTTGAACCCAATCT CTCTCCGCTGTTGCCATAGAAGCAACCCTTATTGCAACAGTCTTGAATAC ACTCTTCCTTACTGTTTTAACAAGTGTCAGAATAGTTTTTTCTTTAACAC AAATCATTAAGAAAAAAAAACTCAACTAAAAATGTGCAAAACAGATGAAT AGGAAACATAAAAGTAAACTTATGACCAAAACGCATATGAAAAGATGCTC AACTGCACTATAATCAGAAAGACAAATCAGAAAAAGATACCACTTCAGAC TTATTAAATTGGCAATAATCTTTTTAAGTCTGAAATTTCCAAGTATTGCT AAAGACAAAGAGAAAACAGGAATTATTTTTTGCTGTTCATGAGAAGGTAA ACAAACATAAGAGGCTGGAAAGCATTTTGTTGTTATTCAGCAAAATTAAA TGTGTGCATACTCCATGACCCATTTTTACACATCTATTTATTAGATAATA ATATATATGTATATGATACATATTAATATATAATATAAAACTTTATATAT GTGTTTATATGTGTATATATGTAAATATATATATTATATATATGTATATA AAAAACTATTCACAGAGGGAAAAGAAAAACCTAAAAGTCTACAGATTATC TCCAGAACTCAAAACTTCATAACATTGGAATTGTGTTTGCATGGACCTGA AAGCACATTCCAAAGGATTAAAATTATAAACTCCACAAAAATGCTGACTA TTTAAATGTTTATCACACAATTAATGAGAATGTTATCTTTTCATATGGAT ATCAAAGTAGTCCATGACTGACACCCATAAGAAACTGACTGTTCTCCAAA CAGAGTAAATAGTACAGATTTTTGTACCTTTAAAAGCACATTCATACCTA ATCTTATTTGATTATACTAGCTGACCTAAGAGTTGGCAATATCAACATTT TGTTTGTTTGTTTAAGATAGGGTCTCACTGTTGCCCAGGCTGGTCTTCAA CTCCTGGACTCTGGTCTTCAGCTCCTGGACTCAAGTGATCCACCTGCCTT GGCCTCTCAAAGTGCTGGAATTACAGGCATGAGCCAACAGTGCCTGGCCC AATGTTTGTTTTATTTTTTAATGAACTTTCTGTGTAAATGTTGATGCCAC CAGCCTCCACAAGAATGGAATATACTAGCTGGCCAAATGATTAGCTAACA TAAGGAACCAGAACAGATAACCCTAGATCCCTCCTGACATTAGCTATCAA ATAAAATGCTTTTGTCAAATTTACATAACTTGGACAAGCTTTTATCTGGG GAAAAGCAAGTAGTTCTTAATGTAGTGTTTTCCTTCCTTGGCAAGTGGCT CTAGCTGGTATTTCAAGGCTCTAACAGAGAATCGGTGGTGCAAAGCCTGA TAAATCGTCATTTGAATAGCAAATTATATTGGACTTTAAGATTCTCTTCC ATTAAGAGAGAGTAAATGTTCCAAATTCTCTTAATTTATCTGACAGGTCA AAGGCAGGCTTGTGGGCATTTATATTCAGAAGGTTGTCTTTATTACTAAA TTACCTATGAGCTTTTAAAGTCCAGCTTTACTTTCTAGAAAATCTACTCA AATTTTAAGGTAGATAAGAAAAATGAGAAAGAATGGAATTCTGTATATTT TACCTTCTCATTTTGTTACCCTAACCTAGAAGGAACATATACAAATAGAT TCAAACAGCTATGTGGTTTATTACAAGAAGTCATCTTTTTAAGTGATGAT CTTTACATAATTAAGCATATGGATTTAGAAGCTATTCCCAAAGGTGCAAA AGATGAAGTGATGCGACTTGATGACTATGATAAAAACTAAGAAAAGACAA AAATGGTAAATGGAAGAGGGAGGGAGATGTATATTTATCACAAGTGTACA ATGTATTAGACACAATGTTGCATAGTTGACCCATAAGAAATTATTTCACT TTCACAAAAATCAGTAAATTAAGAATCTTTGCTCCTCATTTAACAGATGA GCAAAGGCTCAAAGGTGTTAATTATTTTTTCCCAAATCAAACAACATATT TTAATCCTAAGATGCAAACAATGGCCTGTGTA	T T	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19009.hp1 NA18943.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	2	266	0.0075	-4231	c.840 others(18): Show c.840+7639_840+11869del	SLC39A8	ENSG00000138821.14	transcript	ENST00000356736.5	protein_coding	6/8			chr4	TogoVar
MBD3L5_chr19_7025578_7038011	7033787	GAAATGAA others(4217): Show GAAATGAAATTCTGTAATTTTAAATGAAACGAATACATTACATTATAATT TGTTAAAAATGTATTACATTTTCATTTTTAAATTGAGTTTTCATTGTTTG AAATTTTCGAATTAGGGGAACATGTACATGTTTGTTACATGGATATATCG CTTAACGGTGGGGGTTGCTTTTGTAGTTTATGGGTTACCCAAATACTGAA TATCGTACCCAGTAGCTAAGTTTTCAACCCATGGGTAAACTCAATTAACC TAGCCTGAAGGATTATTCAGTGTTTAGACATTACATTTTCTCCCTATAGT ATACGTTCTCAAGGCGAAGTTGGTACGTATCCCAAGATTTTTTTTTTAAT GAAACATTTTTACCCCATTTACTCTGATGTGGTTATCAGACATTTTGTGC CTGTATCAAAATATCTCACGTACCACATAAATATATACACATACTACGTC CCTGCCCGCTGTTTGACTTTGAGTTTCCTTACCTCTTTATCATTGATCGA AACATGGAATGGAATACCTCATGGTAATTATTTTATGCATCTCGGGTTAG GTGGAAACTACTGGTTGTTTTCACTCTAGCAGAGTTAGGGTGGCAGGAAG TGCCCATCAGCAGATGCTACTGCACACCAGCCCGGGCGACAGAGCAAGAC TCTGTGTCTAAAAATAGATATATAATTTATATATAATTATAAATACATTA TATATAATTTATACATAATTATAAATACATTATGTATAATAAAATTATAT ACTATATAATTATATTATATACTATAATATATTTCTTATATAATTATATT ATAATATAATTTATATGTTATATAATTATATTTTATATTATAATATAATG TATGTTATATAATTATATTTTATATTATAATATAATTTATATGTTATATA ATTATATTATATATTATAATACAATTTATATGTTATATAATTATATATTA TAATATAATTTATATGTTATATAATTATATTATATATTATAATATAATTT ATATGTTATTTAATTATATTATAAATTATAATATAATTTATATAGTATAT AATTATACATATTATATATTAAAATATAATTTGTATATTATATAATTATA TATATTAAAATATAATTTATATATTATATAATTATATATATTATGTATTA TAATTATATTTATATATTATATTTATATAATTATATGTAATATATTTAAT TATATAATATAATTATATAATATATACGTATATTACATAATTATGATATA TAATTATATATAATTATATTATATATATTATATTATTATAATATAATATA TATAATATTATATTATATAATTATATATATTATATATATATATTATATAT TATAATATTATATATAATATATATTATATATATATTATATTATATATATA TAATATATTATATTATATATAATAATTATAAAATATAATATATATTATAT TATATAATATATAATTATACATAACTATATTATATATAATATATAATATA ATATAATATGAAATAATTTTATATAATTATATTATATTATATATATTATA TATTATATATTACATATTATATATATTATATATAATATATACTATATAAT ATAATAAAATATATATTATACATAATATATAATATAATAATATATAATTA TATATAATATATATAATATACTATAATATAATTATATATAATTATATATA ATACAGTTATGTATAATTATATATTATATAATATAATATATATTATATTA TATAATTATAATATATATAATTATATATAATTATATAATATACCGATATA GTATATATTATACAATTATATTATATAATTATATAAATATGATATATAAA TATAATTATAATATATAATATATAATTACATAATATATAAATTATATATT AATATATAATATATGTAAGTATATAATATATAAATTATATTATATATATA ATATAATTATATAACATATAAATTATATTATATATATAATATAATTATAT AACATATAAATTATATTATATATATAATATAATTATATAACATATAAATT ATATTATATATATAATATAATTATATAACATATAAATTATATTATATATA ATATAATTCTATAACATATAAATTATATTATATATAATATAATTATATAA CATATAAATTATATTATATATAATATAATTATATAACATATAAATTATAT TATATATAATATAATTATATAACATATAAATTATATTATATATAAAATAT AATTATATAACATATAAATTATATTATAATATAAAATATAATTATATCAC GTATAAATTATATTATAATATAATTATATAAGAAATATATTATAGTATAT AATATAATTATATAGTATATAATTGTATTATACATAATGTATTTATAATT ATGTATAAATTATATATAATGTATTTATAATTATATATAAATTATATATA ATGTATTTATAATTATATATAAATTATATATAATGTATTTATAATTATAT ATAAATTATATATTTATTTTTAGACACAGAGTCTTGCTCTGTCGCCCGGG CTGGTGTGCAGTAGCATCTGCTGATGGGCACTTCCTGCCACCCTAACTCT GCTAGAGTGAAAACAACCAGTAGTTTCCACCTAACCCGAGATGCATAAAA TAATTACCATGAAGTATTCCATTCCATGTTTCGATCAATGATAAAGAGGT AAGGAAACTCAAAGTCAAACAGCGGGCAGGGACGTAGTATGTGTATATAT TTATGTGGTATGTGAGATATTTTGATACAGGCACAAAATGTCTGATAACC ACATCAGAGTAAATGGGGTAAAAATGTTTCATTAAAAAAAAAATCTTGGG ATACGTACCAACTTCGCCTTGAGAACGTATACTATAGGGAGAAAATGTAA TCTCTAAACACTGAATAATCCTTCAGGCTAGGTTAATTGAGTTTACCCAT GGGTTGAAAACTTAGCTACTGGGTACGATGATTAGTATTTGGGTAACCCA TAAACTACAAAACCAACCCCCACCGTTAAGCGATATATCCATGTAACAAA CATGTACACATGTACCCCTAAATCGAAAATTTCAAACAATGAAAACTCAA TTTAAAAATGAAAATGTAATACATTTTTAACAAATTATAATGTAATGTAT TCGTTTCATTTAAAATTACAGAATTTCATTTCATTTTTAAAGGATTTCAT TTGAAAATTAAATTGGAATTTTTGTTTTGAGACAAAGTTTCACCAAGGCT GGAGTACAGTGGCACCATTTTGGCTCACTGCAACCTCTGCCTCCTTGGTT CAACCGATTCTCTTGCCTCAGCCTCTCCAGTAGCTGGGATTACAGACATC CGCCCCCACACCTGATTAGTTATTTTTAGTAGAGATGGGGTTTCGCCATA TTGGCCAGGCTGGTCCTGAACTCCTGACCTCAGACGATCTGCCCTGCTCC GCCTCCCAAAGTGCTGGGACTACAGGCATAAGCCACAGCGCCAGGCCAAA GATTAAATTAGAATTTAATACAAAAACTAATTAACAGCCGGGCAAGGTGG CTTATGCCTGTAATCCCAGTACTTTGGAAGGCCGAGGTGGGCAGATTGCT GAGGTCAGCAGTTCAAGACCAGCCTGGCCAGCCTGGTGAAACCCCATCTC TACTAAAAATGCAAAAAATATCCGGGCATGGTGGTGGGCACCTGTAATCC CAGCTACTCGGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGG AGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAG AGCAAGACTCCGTCTCAAAACAAACAAACAAACAAAAAAAAACAATTAAT TAAAATCATGGTAAACAGAAACTGAGATGTACAGTGACATGTAAAGGTCT CCTTCCTCATCCCATAAAACCCAATTTCTCACCACAAAACCATCCACTCC TTACACCTGTTGCCTTTCAAATACTTTTATTAAAGAACTGGTGGGGAAGG GAAAAGTGTGACAATTCAGAGTAGGAATGAGGATGGGCATTAAAAGAAAG GGACCGAAAGCCCAGGACTGCGCTTCATCTACATGTCAGCATTTCTGCCT GCCTGGCCAGCCTGTCTGCCTGCAAGGCCTTGGCCAGTCTCTCCCTGGCT TTCTTCACCCTCCTGGCCTGTCTCCGGATATCTGCAGGAGTCACCAATTG GCCAGAGAGGGGCGGTGGGAGCTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	249	0.0040	-4224	c.89 others(10): Show c.894_*5117del	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		777		chr19	TogoVar
PKNOX2_chr11_125159751_125438389	125416220	GTGAACCC others(4216): Show GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACGCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAGAAAGTGGAATTACAACTTTGACGTTTGGGAACTAATCTGTC CACGAGATCTTTCCAGATTTTTATTATGTATTCCAATCCTTTATGTTTGT CTCATCTGATCCTAACTATTCAGCATTTGTAAGCAAATTTGGGCCTCAAG ACTTTTGAAAGCTTTCTACTTATCAACAGCGACTCTTTTTGCACTCATAT TTCATTGGTTTACAGAAGAGTTTGTTAAATTACAGAAACGTACATACTTT ATTAATAATACATAGAATTGGCATAAACCAGTCTGCATACGAGCACTGCT GACTTTCAGATAAGCAGGTAGTGTGGCTAACAGACATTCTACAAAACAGC CTACTCATCTCAAGCATTCAGAGTGCTGCAGACAGCAGTTCTAATGATTT ACAGAAGAAGTGGAAACAGCATTGATTAATCCACAAACTTTGCTAAATAG GGATTGGTTGTGAGAATGTCTGTAGTAAATACTGGTTCCTGTTGTCTTCT TTCCCTGGGGCATAAGTTTGTATTCTTTGGTTCCCTTTGTCCTATGTCTG GGGCTTCTTGTCATTTCTACTGTTCTGCAGCCCTGGCAGCTACAGGAAAG TATTCAGATGATAGAAGGCTCCTGAGATGGAGGTGAAATCCCAGAGCCTT TTTGCTGTTAGGCTGCAGTGAGATTGGGATCGTTTCATACGTTAGCTGCT CGCCTCTGAGTCCCTGAAGAATCCAGTGACATTTTCTTGCTCTTGCATTT GGCTGAAAGAGGCCACACTCCTGCTGGAAGCAATCATTCCATAGCAGACT CAGGTCGGCCGAGAGCCCATGGCAGAGAGTCCTCCTCTTGGAGGGTGGAG AGGTAGGCACTGTTCCCCATCCCCAGCTTCTACTCCACCCCTTCTGCTCC AGATCTTGGAGTCTTCCTGACCTGCCACGTGATTCTGCTCCTTTCCATCC CAAATATGACATCTGTCTGTGCTGCTGCCAGCCAAGCACATGAGCAGCTT TTCAGAATATGCTCTGTGTGCGGGGAGATCCTGGAGACCAGGCCCCAGCA GGCCCTGCCATCCACCAGAGGAGCCGCTTCTGCATTAGCCACTGCAGCGT GCCGGGTTCTGCACTAAACACTGTAACGCATCATCTCATTTAACCCACAC AACCACCCTAGGAGGAGGTAATACAATTCGCCTCATTTTACCAGTGACAA AACTGACACTCGAAGAAGGCAACACATTTCTCAAGGTCACATGGATGACA GGTGGCACAGGATTTGAACCCGGACCTATGCAACGGGAGGCTCTAATCTC TTACCCACCACTTTGACCCAAGAAACCACAGACATCTCTTGGCTCCCATG CAAAGTCTGGGTAAAGCAAAGGGGAACCCCAACGCCCAGCAGAGGCGTGG AGCCCCGTCCTGGGAGAGGTGTAGAGATTTTACATGTCCAGTCCCGGTCT TCAGACCTCACAGCGATGCTGCCTTTGATGTCTCCCCCACCCCACTCATC ACATTCAGAAGCCTGGCCTGGCATCCAGCTGCACTCTGCCATCCACCACC CCATCTTCCATTCAGCCACAAGGAGCTGAGGGCTCACTCCAGGGCCCTTC TATGAACTCTGCTGTGGTCACAAAAGCTGAGTGCACAAAAAACACCCAGG GCCTTCTCTGTGTGACTTTTTAGATAGAAACATAATTCACGTACCATAAA ATTTACCGTTTTAAACTGTGGAATTCAGTGGCTTTTAGTATCTTTACAGA GTTGTGCAATCATCACCACCATCTAATTCCAGAATATTTTCATCACCCCA AAAAGAAAGGTTGTACCCATTAGCCATCACTCCCCAGCCCCTGGCAACCA TGAATTCACTTTCTGCCTCTATGGGTTTGCCTATTCTGGACATTTCACCT AAATGGAATTGTGGGATTCTCATGTCTAGCTTCTTTTACTTAGGACAATG TATCAGTACTTCATTCCACGTTGTGGTTGAAGCATATTCCATGGTACAGA TGTAGCACATTTTGTTTATTCATTTATCAGTTGATGGACTTTGGGGTTGC TTTCACTTCTTGGCTCATAAGTCCTGCTGCCATGACGGGTATACTCTGCA TGATTCTGTGCCTGTTGTTCTCTTAGACTCTGTCAGATGCCCAGCTATCC TTCCCCCAGCCTGAGAACCTCACATGCCGGGCTCCTTCTGGCTGGGGGGA GGCAGAGCGGCTGTACCCCAGGAACAGCGGGTGCACTGCACAGAGCTCCT GGCCAAGGAGGGCACGTGGAGGTGAAGCCCAGCCAGTTGCCTCTGTGCCT CGGTGTTGCCTTTGGTCACTCCACATTCTTTGCATGCCTCGCTACCTCCC CTGCGCAGAGCATTGTGTTAAGTCTTGAAGGGATGACAGTCAGCCCTCTG TGTCTATGGGTTCTGAATCCCTGGATCCGACCAACCTTGGATTGAAAATA TATCTTTAAGTGGATGGTTGCATCTGTCCTGAACATGTATCGCCTTTTTT CTTGTCATTATTCCCTAAACAACACAGTATAATAACTATTTATATAGCAT TTACATTGTATTCATTACTGTAAGTAATCTGGAAATGTTTTAAAATGTAC GGGAGGATGTTTGTAGGTTATATGCAAATACTACATCATGTTATATCAGG GACTTGAGCATCCATGAATTTTGGTCCCCCACGGACACTGGAGGTTGACT CTCTCTAGCTGTATCTCTGTCAAAGGCCCACCTACAGGACCCATCCACAT GGCTGACATAGGAATGGCAATGTTTCTTAGAAACCACATAGCCTATGGAA AGGACATGGTTCCTGGGGCAGGACCTGGGTTGAGTTTTCACCACCCCCTC TACCTAGCTTGGCGAGCTTGGGTGATTGTTTGCCCTTGTGAAGCCTCTCT TTCCCCTGCTGTAAAACAGGAGCTGCAATATCCAGCTCATAGGTTGTTGT GAGAATAGAATAAGCGGATGGGCGTGAAGGTTCTTTGTCCCGATACAGGC ACCGCTACTGCTACAAATGCCTCCAGTCTCATTGAGAGTTCCCATAATTG GCCTTGCCTTGGAAAATGCTGAGAGAAACCACAAAACTTTTGGGGAACCT ATGGAGGAAAGCAAGAACCCCTGAAAAAAAAAGAAAAAAAAAAAAAACAA GAAAATGGCTTAGGGAGACTGGCCCATTTTTGTTCCAGAATATTTTGTCT GCTACCTTTTCCTTTAACTTCCTCATACTGTCTGAAATTCCACTTGCATA CGTATTAAGGATTAACTTTTTAATGAAATTCCACTATTAGAGACCCATTT TAAACTATCCAATCCCTGTACAAAGCAATGACTATGAAAGGCTGTGAGGC CATCATTTACTCACAGATTAGTACGAATTAGTTCAAAAGCTTGCTTTACT ATTCCCACTCAGCTAAGATCAGCTTCATGGGAAGAATGGGGCCAGGCACA GTGATAATCCCAGCACTTTAGGAGGCCAAGGCGGGAGGATTGCTTGAGCC TGAGAGTTCGAGACCAGCCTGAGCAACATAGCGAGACCTCATCTGTTTAA AAAAAGAAAAAATTAAAAAAAAAAAAAAAAAGGCCGAGTGCAGTGGCTCA CACCTGTAATCATGCCAGCACTTTGGGAGGCTGAGGTGAGTGGATAGCCT GAGTCTAAGAATTCGAGACCAGCCTGGGCAACATGGCAAAACCCCGTCTC TACTAAAAATACAAAAAAATAGCCAGGCATGGTGGTGGGCACCTGTAGTC CCAGCTATTTGTGGGCCTGAGGTAGGAGGATCATTTGAGCCCAGGAGGTC AAGGCTGCAGTGAGCCCTGATTGTGCCACTGCACTCCAGCCTGGACAACA GAGTAAGACCCTGTTCCCTCCCCACCACATTTCCCCCAAAAAAGCTGAGT TTTTTATTTAAAAAAAAAAAAATGGGGGCCGGGCACGGTGGCTCACGCCT TTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCACTCTACTAAAAATA CAAAAAATTAGCCAGGGGTGGTGGCAGGCACCTATAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp2 HG02572.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0143 a0001c0001t0010g0164 a0001c0001t0010g0143 a0001c0001t0010g0164	2	222	0.0090	-4223	c.936 others(17): Show c.936+4362_937-8563del	PKNOX2	ENSG00000165495.16	transcript	ENST00000298282.14	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPIN1_chr9_88383444_88483694	88394913	CATTCTCC others(4215): Show CATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCA CCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATG TTAGCCAAGATGGTCTCGATCTCCTGACCTCGTGATCTGTCCGCCTCGGC CTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTATTT AATGTATTTTTTAACATGTAGAACATTTATGTGAACATTTATGTAGTTAA AAAATCTGATCTGTGTTAAAAAGTTATGTTCACAGCTTCACTTTAATTCT GTTCCTCCACGAATTTCTCTCTTGCCCCAGTTGTTTTTGCTTTGTTTTTC TGATATTTCATTTTTGCAAATGTAAGCATATGTGTATATTTTTGTTTCCC TTTCCTACACAATAGGCAGCGTTCTATGCACACTGCTCTGCCGTTCTATG CACACTGCTCCCTTTTACTTAATTTATTCTGGAGAGCGCTTCATTGAAGT GCGTGCTTGCAACTCATCTCCTAATGATGAACATTTGGGTTGTTTATATT CTCTTGGCTGTTATAAATATTGCGGCAATGAATAACCTTGTGGGTATATT GTTTTTTATTTGTGCAGATACAGCTTTAAGATAGATGTGGGGTGAAAGGT AAACACATTTGTAGTTTTGTTAGTGTCAAAATGTTACATTTTCTTTTTAA AACTTTTTAATTTTTTGTAGAGATGAGGTCTCACAGTGTTGCCCAGGATG ATCTTGAACTCCTGACCCCAAGCAGTTCTTTTACCTGGGCTTCCCAAAAA ACTTGGGATTACAGGCGTCAGGCATCAATACAGCCTAAAAAAATTACATT TTCAGGCTCAGTGTGATGGCTCACACCTGTAATCCCAGCACTTTGGGAGG CTGAGGTGGGCCGATCATGAGGTCAGGAGTTCAAGAACAGCCTGACCAAC GTGGTGAAACCCCATCTCTGCTAAAAATACAAAAATTAGCCTGGCGTGGT GGCGCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCA CTTGAACCTGGGAGGCAGAGACTGCAGTGAGCTGAGATTGCGCCACTGCA CTCCAGCCTGGGTGACAGAGGGAGACTCCGTCTCAAAAACAACAGCAACA ACAACAAAAAAACCCGTCTCTACTAAGAATACAAAAATTGGCCAGGCATG GTGGCCTGCGCCTGTAATCCCAGCTACTCCTCATGAGAGTCACTTGAACT TGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTTCAGCC TGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAATTACATTTTTA AAAGGCAGATCTGACCATGTCAGCTTTTTACTTAAAACTCTAAATGGTGG CCAGGTGGGTGCGGTGGCTCACACCTGTACTGTACTCCCAGCACTTTGGG AGGCTGAGGTGGGCGGATTACCTGAAGCTGGGAGTTTGAGGCCAGCCTGG CCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGT GTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAG AATTGCTTGAACCTGGGAGGCGGAGGCTGCAGTGAGCTGAGATCACACCC CTGCACTCCAGACTGGGCAACAGAGTGAGACTCCGTCTCAGAAAACAAAA CAGAAAAACTCTAAATGGCTTTCCAGTGCCTTAAGGACAAAAGTTTATAA TGTAGCCTCAAGGGTACACATATAGTTGGTGTACATATAGCTTTACATCC CTTAACAATGGGATACATTCAGAGAACCTCGTTGTGTACCTCATAGAGTA TACTTACACAAACCTATATGGGACAACCTACTAGGCACCTAGGCTATGTA ATATGGCTTAATGCTCCTAGGCTACAAACCTGTACAGCATATGACTGAAC TGAATACTGTAGACTATTGGAACACAGTGCTGTGTAGGTATTTATTTATC TAAACATATCTAAGGACAGAGAAAGTACAGTAGAAATGTGGTATAAAAGA GAAATGGCATGCCTGTGTAGGGCACTGAACCATGAATGGAGCTGTCAGGA CTGGAAGTTGCTCTGGGTTGAGTCTGTGAGTGAGTGGTGAGTGAATGTGA AGGCCTAGAACATTACTGTACACTACCGTAGACTGTATGTAAACACTACA GTTAGGCTACACTAAATTTATAAAAAGTTTCTTCAGTAATTTACCTTAGC TTACTGTAATTTTTTTAACTTAATAAGCTTTTTAACTTTTTTTTAAACTT TCTGTCTTTTTAAATAACACGTAGCTTAAAACAGCCTCATAATATGGATC CACTGTAGTATATGTGGTCTGTTGTGTTGACAGAAATGTCATTAGGTGGT GCATGACTAATTACTTTTGGGCCTCAGCCTCATCTTGTACTGTTTTTCCC CTTGCTTTCCTTTGCTCCAGTTGTGTGGGGCCTCCTTCATTCTCCTGTGC TCACCATATTCTCCACCAGGAATCTTGGCACTTGTTCTTTTCCTCTGCCT GGAATGCCTTTCTTTGTTAACAGTTATTCCTGGTCTTTAGAGTTTGGCTC AAGCATCACTTTTAATGAAATTTTCTGTGTGCGTGCTTGCACATTTTCAT AAGATAAAGAGATTGGACTGTACTGATATTCATCACCGACTCCAACAAGC ATCAGTTGTCTGAAGTGTTTTTTTTTTTTTCCCCAGTCTTGCTCTGTCTC CCAGGCTGGAGTGCAGTGGTGCGGTCTCAGCTCACTGCAGTCTCCACTTC CCAGGTTCTAGCAATTCTCACTCCTCAGTCTCCCAAGTAGCTGGGAGTAC AGGTGCGTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGAC AGGGTTTCACCTTGTTGGCCAGACTGGTCGCCATCTCCTGACCTCAAGTG ATCTGCCCTCCTCTGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCAC CGTGCCCAGCCTGAAGTTGTTTTTTTGAGACGAGGTCTCACTCCAGTTGC CTAGGCTGTAGTGCAGTGGCACAGTTTTGGCTCATTGCAGCCTCGACCTT CCCGGACTCAGGTGATCTTCCCATCTCAGCCTCCCGCGTAGCTGAGACTA CAGGCATGTGCCACCATGCCTGGCTAGTTTATTTTTGTATTTTTAGTAGA GACGGGATTTTGCCTTGTTGCCCAGGCTGGTCTCGAGCTCCTGAACTCAA GCAGTGTACCTGCCTCAGCCTCCCAAAGTGCTGCCTCAGCCTCCCACCTG TGCCACTGCACTACAGGCATGAGTCACCGTGCCTGGCTGTCTGAAGTTCT TGAATTTTTTTGACTTTTCTGCAGTCAAGTCCTCTTGGTGCTTATCAGAA TTACAATGTTATATTAGTTTATGTGATTTAATTAATTTTAGTTTTCCCAC AAAGGCTGAGTTTCATGAAAGCAGAACCATTCCTGTTTTTGCCTGTAATT ACTTTTCTGGTATCTAGCTCAGTGTCTGAATTGTGAGGGCTCAAGCTACC CTGTGCAGTAGCGAGAATTAAATAATAAGAAAATTGAGGGTGTCTGGTTG GTTAAATGTCTTGTCTGCACAGGTGTTTGTCATACAGTGATTATTAAGTA ACAATTTGTTGACTTTTATTTATTTATTTTGAGACAGAGTTTCGCTCTTG TTGCCCAGGCTGGAGTGCAATGGCGCGATGTTGGCTCATCGCAACCTCCG CCTCGTGGGATCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGA TTACAGGCATGCACCACCACACCCAGCTAATTTTGTATTTTCAGTAGAAA CGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCCACCTCAGGTC ATCCGCCTGCCTTGGCCTCCCTGGGATTACAGGCGTGAGCCACCGTGCCC GGCCTTGTTGACTTTTAATTGTAATATTTTTTTCAGGATCACATAAGGTT TAGAAAAATGAAACCCCTAGGATGGATAAAGGAAAACGTATATGGGATAT GTGTGTGTATGTATTAAGGCATTTGTTACAGTGATTTGAGTTCACACAGT GTAGGAGGAGCTGGCTTAAGCAGTTTTTTTTTTTTTTGAGATGGAGTCTT GCTCTATTGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAA CCTCCGCCTCCTGGGTTCAAGCG	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	176	0.0057	-4222	c.-15 others(20): Show c.-159+6396_-159+10617del	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
PGPEP1L_chr15_98963229_99012792	99008576	CGCAAGCG others(4209): Show CGCAAGCGCGGCGTGCAGCCCCGGTTCCCGCCCGCGTCTCTCCCTCCACA CCTCCCCGCAAGCTGAGGGAGCCGGCTCTGGCTTTGGCCAGCCCAGGAAG GGGCTCCCACAGTGCAGCGGCGGGCTGAAGGGCTCCTCAAGTGCCGTTAA AGTGGGAGCCCAGGCAGAGGAGCCGAGAGTGAGTGACGGCTGCGAGGCCT ACCAGCATGTTGTCACCTCTCAGTGGGGGCTTGGCTTCCTCTGCACAGTT AAAGGAAGAGATTGGACCATTAAGAAATGCCCACTTCTTCTTTTTTTTTT TTTTTCAGATGTAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGC GATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGCAGTTCTCTCC CTCAGCCTCCGGAGTAGCTGGGATTACAGGCACCTGCCACCAGCCCTGGC TATTTTTTGTATTTTTAGTAGAGACAGAGTTTGACCATCTTGGCCAGGCT GGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTG CTGTGATTACAGGCGTGAGCCACCGCGCCCGTCCAGAAATGCCCACATTT GTAAAGTTGGTTGCTGCTAGGGTCCAACTCTGCTATCAACATTCACCTAT GAGGTCTGGGAATGGGAACTTGTGTTTAAGGAGACTCCTTAAGTGCAAAG ACTGCCCATCTTTAACCATACTACTTTTCTGATAACAAAGCTGAAATTTT CATCATTTTTTTTTTGATTTGACAGGAGCTATTATTTTAACTAAACTGGA ATGTGTCCTGCAGTTTTCACTTTCCCATAATTCACTTATTTTTTTCTGTT CTAAAGTTTTCTCTAATTTTGAAATTAATAGAAAAAACAACACAAAATAT TTTACTTAGTCACAGTGATATGTCTATTTTTGTATTCATTCACCTCCCCT CTCCCCACACAAGAACCCCCCAGCACATTCCTACTTTCTGGAATGAAAAT AGCTCTGAGAAGTATGGATTTTGAGGTTCAACATCTGCACTTTTATTTCT TTTTCCATTGTAAAAACAAATGGTCTCTAATAATTGATGTCAAACACAGT CTTTAGGCTGATGAAATACAGTAAGCCTGAGAACGAATAAGGCAACTAAA TGGAGCTGTTTTATTTAACAGAGAGCACAGTGATCTTCCTTACAAGCGGG ATTCCCGAGAGGAAAATGTTTGTAATCAGATTTGACTCTAGGATTAAGAG GGCAAGGTGCGACCCTCTTAGTGAACCGGAAAGTAAGCAACGGTACACAA GTGTTCTCACCAGGGACAGCAAATGGGAGTTGCCAAGATTACAAGATCCC AAGACCTCAACTATTTCACGTGCTGAACTAAACTCAAAACTTTGTGGGAT TTGTTTTAAATTTCTCATTGGCAAGTGGTGACTTCCTGCTCTCGCAAGAA AAAAGATTAAAGGGGTTTGTTTACTGTCTCTGACACAAACAGCTCTTACA ACACATTTTGTACACTTGACATAAATGAAATTTAATCAAACTGGTCAAAT TCCTTTGGGAGGTGGGGAGAAAATAAATCAATCAGCAAGAAGCACTTGTG ATTTCCAAAATAATGATAACATAAGTCTTTCTCCATGTCAAACATCACTG TTTCCAGATAAGCGACTTAGCTCTACTATAAAACACAACCCATAGCCAAA TTGCTTCTTGTCAAAGCACTAAGGGATCCTCCAATAATGTCACTCTACCA AGGCAGATTCAGAACTCACCCTCCTCTATACCTCTGCCTCTGCAGCTTTG TACCCCAGCAGGGGCCAGCCAGCACACGATTTCTGAAAAGGGCCATAAAA TAAATGAATAAATGTAGTAGACTTTTTTTTTTTTTTTTTTGAGACAGGGT CTCACTCTGTGGCCCAAGCTGGAGTGCAGTGGTGCAATCTCGGTTCACTG CAACCTCCGCCTCCCGGTTCAAGCAATTCTCGTGCCTCAGCCTCCTGAGT AGCTGGGATTACAGGTGTGCACCACCACACCCGGCTAATTTTAGTAGTGC CTGTAGTCGCAGCTAATCGGGAGGCTGAGGGAGGAGAATGGCGTGAACCT GGGAGGCAGAGCTTGCAGTGAGCCGAAATCGCATGCTGCACTCCAGCCTG GGCGACAGAGTGAGACTCTGTCGCAAGGTGATATTTCTGTTACATTTTGT AGGAGAAGGATTTGTCTTTATTTTTCTTCTGTCTTATATTTTTCCCTCAG ACTTTTGCTAAGCCTTGATCACTTTTTTTTTTAGGGACTACAGCTCCTTG ACTGCAAAGTAACAACTGTTGCAAAAGGAAGTTTTCTACTTGTTAAAATC CAGTAGCTTGTTACCCCTATTGTTTAAATACTGGATTTTTCTTTCAAATT TCACAAATATCTTAGGAATGACTGGAACATTTGTGTTCTTAACACTGAGG AAATTCCTGTGTAGACAAATGAGGCCAGATGGAGGGTGCAGCAGAGAGCT TAATATCCTCTTGGAATGGAAGAGGGGCCACACTAAAACATGCACCAGGC CTTCGAGGGGCCGCTATTTTCCAGTATACACATGTAAGAGGCATTTTTCT TTTTTTCTTGACTGGGGCCAAAGGTAACTTTCGTGTCAGAAGTGAGTGCT AAGTGGCTGAGTAGGTTTGAGGAAGGCTTAGCGATCCAGCTTATTTATAG ACAATCCGATTATAATATTTATGATCATTGATTTTTAAAAATTACTGGAC CTCTTAAAAATGGTTAGATATGAGACTGGTATATACTGAAGCTAATAGCT TTCTCTTTTTAAAGAGATAGTGTTTCTCTCTGACGACACACAGGCTGGAG TGCAGTGGCACTGTCAGAGCTCACTGCATCCTCAAACTCCTGAGCTCAAG CGATCTTCCTGCCTCAGCCTTCTGTGTAGCTGGGACCACAGGTGTGTGCC ACCATGCTTGGCTAATTTTTCAATTTTTTTTTTTTTGTAGAGATGGAGTC TTGCTATGTTGCTCAGGCTGGTCTTGAACTCTTGGCCTTAACCAATCCTC CTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTGGGAGCCACCTCTCA GGGCCTAAGAGTTTTCTTATATATCAGCAATAACTAATTCTAATGTAATT GGAGAAAAGAGCCCATCCACAATGCCCTTCAAATATCAGAAATCTCTAGG AATAAACCTGGCAAGAAATGTATGAGATCCTTTTGTGGAAAACTGTGGAA CTGGCGGGGTGCGGTGGCTCACGCTAGTAATCCCAGCACTTTGGGAGGCC GAGGCAGGTGGATCACCTGAGGTCAGGAGTTCCAGACAAGCCTGGCCAAC ATGGTGAAACCCTGTTCTCTACTAAAAATACAAAAATTAGCTGGGCGCGG TGGCTCACGCTAGTAACCCCAGCACTTTGGGAGGCCAACGCAGGTGGATC ACCTGAGGTCAGGAGTTCCAGACAAGCCTGGCCAACATGGTGAAACCCCA TCTCTACTAAAAATACAAAAATTAGCCAGGTGTAGTGGTTCATGCCTGTA ATCCTAGCTACTTAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAG GAGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGCA ACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAGAAAAAGAAAAGAAA AAAGAAAAGAAAACTGTGGGACTTTAAGAAAAAAACATAGAAGACCCGAA TAAAACAAAGGATGCCATGTTCTGTAATGGGAAGATTCGAAACTTTAAAA ATGTTAATGCAAACCGATGTTAAAGACTAGATGCAACTGGCTTGCCTTCC CAGATATCCAAATATATGCTAAAAGCTAGGGTAATTAAAATAGTGCAGTG TTGTTGTAGAAATAGGAAAACTGTCAATAAAACAGCTAGAATGTGTATGA GAATTTAATATATAGTTAAAGAGATAATTCAAATTAGTAGCGGAAAGAAT ATACCATTTAATGGTGTGGGAACCATGAGATATAGCTAGATCCATTCCTT ATGCCATATAGGTCAGTAAATTATGATTGGATTAAAATTCAAATCTGAAA ATCAAGACAGTAAAAATACTGGAAGTAAATTTAGAAGAATTATTTTCTAG TTTTGGAGTAGTTTCAAAATACTCATGCGAGACGCAAAACTCAGAAACTA AAAGGAAAAGAGGAGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG02451.hp1 HG03098.hp1 others(1): Show HG01261.hp1 HG02451.hp1 HG03098.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0012 a0001c0001t0005 a0001c0001t0012	a0001c0001t0005g0372 a0001c0001t0005g0374 a0001c0001t0005g0375 others(1): Show a0001c0001t0005g0372 a0001c0001t0005g0374 a0001c0001t0005g0375 a0001c0001t0012g0373	4	398	0.0101	-4216	c.-58 others(11): Show c.-5803_-1588del	PGPEP1L	ENSG00000183571.11	transcript	ENST00000535714.2	protein_coding		785		chr15	TogoVar
DLGAP2_chr8_732628_1713476	1395189	GGAGTCGT others(4203): Show GGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAG TCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGT GTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCGGGGTCGTGTAT TGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAG TGCTTACTGAGCACCACCTCCTTGTCCTCTGGAGTCATGTATTGAGAACT TACTGAGCGCTCCCTCCTATGTCCTCCGGAGTCCTGTATTGAGTGCTTAC TGAGCGCCACCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAG CGCCACCTCCTCATCCTCCAGGGTAGTGTATTGAGTGCTTACTGAGTGCC ACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCT CCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTC GTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCATCC TCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCT GAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCGTCATCCTCCTGAGT CGTGTATTGAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTG TATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATT GAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGT GCTTACTGAGCGCTCCCTCCTCGTTCTCCTGAGTCGTGTATTGAGTGCTT ACTGAGCCTCATCCTCCAGGGTAGTGTATTGAGTGCTTACTGAGTGCCAC CTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCC TCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGT CCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTC CTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGA GTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCGGAGTCG TGTATTGAGTGCTTACTGAGCGCCACTCCTTGTCCTCCGGAGTCGTGTAT TGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCAGAGTCGTGTATTGAG AGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCT TACTGAGCGCCACCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACT GAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGAACTTACTGAGC GCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTC CCTCCTTGTCCTCCAGAGTCGTGTATTGAGAACTTACTGAGCGCTCCCTC CTTGTCCTCCAGAGTCGTGTATTGACGGACCTTTGCCAGGTGATGGCACA GTAGTGATGCTCATGGGCTGTGTTCTTTCTTCGGGATAATTGCAGCTTGA AACTCCTGGGCATCTGTGATTGGACTTTGGCAAAGTGAATGTATGTGTGT TGGAATGGGGCGTGTGTCTTTGTTAAATGTGACGTTTCTGTTTTTTTTTT GAGACGGAGTCTCTGTGACTCTTTTTTTACAACTATTCCCCCCAAATGGA GACAGATCAGTTTTGCTCTAAATGTGAATCCGAGGCCTCAGGAAGGCATT CGAGGTTTTCAGAACCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCTTA CTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGCATTGAGTGCTTACTGA GCGCCACCTCCTCGTCCTCCAGGGTAGTGTATTGAGTGCTTACTGAGTGC CACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTGCC TCCTCATCCTCCTGAGTCGAGTATTGAGTGCTTACTGAGCGCTCCCTCCT CATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTC CTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCC AGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCTGGAG TCGTGTATTGAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGT GTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCTGAGTCGTGTAT TGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCTGAGTCGTGTATTGAG TGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCT TACTGAGCGCCACCTCCTCGTCCTCCAAAGTCGTGTATTGAGTGCTTACT GAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGATGTTTTTACTGAG CGTATCTCTTCATCCTCTCTTGAGTTGTTATTGATGCGCTTACTGAGCTC TCCCCCTCTTGTCTCCGGATTCTGTTTTTTCACTGCTTATTTTGTCTTTC CTTCTTCCCTTTTTTAGGTGACTGGACTTTGGCAAAGTGAATGTATGTGT GTTGGAATGGGGCGTGTGTCTTTGTTAAATGTGACGTTTCTGTTTTTTTT TTGAGACGGAGTCTCTGTGACTCTTTTTTTACAACTATTCCCCCCAAATG GAGACAGATCAGTTTTGCTCTAAATGTGAATCCGAGGCCTCAGGAAGGCA TTCGAGGTTTTCAGAACCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCT TACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGCATTGAGTGCTTACT GAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGT GCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTC CCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTC CTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCG TCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCATCCT CCGGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTG AGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTC GTGTATTGAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGT ATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTG AGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTG CTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTA CTGAGTGCCACCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGA GCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGC TCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGTGCCACC TCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCT CGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCCCCTCCTCGTC CTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCC TGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAG TCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCATCCTCCTGAGTCGT GTATTGAGTGCTTACTGAGTGCCACCTCCTCATCCTCCAGAGTCGTGTAT TGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCTGAGTCGTGTATTGAG TGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCT TACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACT GAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGC GCTCCCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTA CCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTC CTCGTCCTCCT	G G	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0025 a0001c0003t0001g0025	1	40	0.0250	-4210	c.107 others(21): Show c.107-106139_107-101930del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1398740	CCCTCCTC others(4195): Show CCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCT CCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTC GTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCCCCTCCTCGTCC TCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCT GAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGT CGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCATCCTCCTGAGTCGTG TATTGAGTGCTTACTGAGTGCCACCTCCTCATCCTCCAGAGTCGTGTATT GAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCTGAGTCGTGTATTGAGT GCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTT ACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTG AGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCG CTCCCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTAC CTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCC TCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGT CCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTC CAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAAA GTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCG TGTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTA TTGAGAACTTACTGAGCGCTCCCTCCTTGTCCTCCGGAGTCGTGTATTGA GTGCTTACTGAGTGCCACCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGC TTACTGAGCACTCCCTCCTTGTCCTCCGGAGTCGTATATTGAGTGCTTAC TGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAG CGCTCCCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCC ACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCT CCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTT GTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCC TCCAGAGTCGTGTATTGAGAGCTTACTGAGCGCTCCCTCCTTGTCCTCCA GAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCGGAGT CGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTG TATTGAGAACTTACTGAGCGCCACCTCCTTGTCCTCCAGAGTCGTGTATT GAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGA ACTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTT ACTGAGCGCCACCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTG AGCGCCACCTCCTCATCCTCCAGGGTAGTGTATTGAGTGCTTACTGAGTG CCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCC CTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCC TCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCAT CCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTC CAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAAA GTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCG TGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTA TTGAGTGCTTACTGAGCGCTCCCTCATCGTCCTCCGGAGTCGTGTATTGA GTGCTTACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGC TTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTAC TGAGCGCTCCCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAG CGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGTGCC ACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCT CCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCCCCTCCTC GTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCC TCCGGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCGTCCTCCA GAGTCGTGTATTGAGTGCTTACTGAGCACTCCCTCCTTGTCCTCCGGAGT CGTATATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTG TATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATT GAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGT GCTTACTGAGCGCTCCCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCTT ACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGAGCTTACTG AGCACTCCCTCCTTGTCCTCCAAAGTCGTGTATTGAGTGCTTACTGAGCG CTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCAC CTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCC TCGTCCTCCAGAGTCGTGCATTGAGTGCTTACTGAGCGCCACCTCCTCGT CCTCCAGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCGTCCTC CAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGA GTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCG TGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTA TTGAGTGCTTACTGAGTGCCACCTCCTCATCCTCCGGAGTCGTGTATTGA GTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGC TTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTAC TGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAG CGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCT CCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCT CCTCGTTCTCCTGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTC ATCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCC TCCAGAGTCGTGTATTGCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCT CCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCT CCTTGTCCTCCAGAGTCGTGTATTGAGAGCTTACTGAGCGCTCCCTCCTT GTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCC TCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCA GAGTCGTGTATTGAGAACTTACTGAGCGCCACCTCCTCGTCCTCCAGAGT CGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTG TATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCAGAGTCGTGTATT GAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGT GCTTACTGAGTGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTT ACTGAGCGCTCCCTCCTTGTCCTCTGGAGTCGTGTATTGAGTGCTTACTG AGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCG CCA	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0026 a0001c0003t0001g0026	1	40	0.0250	-4202	c.107 others(20): Show c.107-102584_107-98383del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
METAP1D_chr2_171994953_172087430	172041305	AAAAATTA others(4195): Show AAAAATTAGCTGGGCGTGGTGGTGTGCACCTATAGTCCCAGCTACGTGGG AGGCTGAGGCATAAGAATCGCTTGAATCCAGGAGGCGGAGGTTTCAGTGA GCCGATATCGTGCCACTGCACTCCAGCCTGGGTGACAGCGCAAGACTCTG TATCAAAAAAAAAAAAAAAGAATCCACTTAAATGCTCATCATTGGTTAAA TAAGGTGTTGTGTGACCTGTCCGTAAAGGAATTCATGAAACAACTAAAAA AGATCATGTAGATCTATATTGTTTTGTTAGAGACAGGACCCCTAACACTG AAGACTGGTTGCCCCCAACTCAAGCCAGATACATAATTCAAAACCAAACA AAACTAAGCTTTAAATAAGTAAATACAGAATAAGAATATAAAAACGTTTT AATTTCCTTACTCTAATTATTTTATATATATATATATATATATATATATA TATATATATATATTTCATCCCCCAAAAGAAATGACCTAATATATATATAG TTTTTTTTTTTTTTAAGATGGAGTCTTACTCTGTTTCCCAGGCTGGAGTG CAGTGATGCCATGTCAACTCACTGCAACCTCCGCCTCCCACATTCAAGCA ATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACCAC TATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGT TAGCCAGGCTTGTCTTGAACTCCTGCCCACAAGTGATCTACCTGCCTCGG CCTTCCAAAGTGCTGGGATTACAGGCATAAGCCACTGTGCCTGGCCAGAA ATATATATTTTTTCATTTTAAAAAATATATGTATATATACATATGTATGT GTACATGTGTACACATATACATATGTATGTGTACATGTGTACACATATAC ATATGTATGTGTACATGTGTACACATATACATATGTATGTGTACATGTGT ACACATATACATATATACATATATACATATGTATGTGTACATGTGTACAT ATATACATATATACATATGTATGTGTACATGTGTACATATATACATATAT ACATATGTATGTGTACATGTGTACATATATACATATATACATATATACAT ATGTATGTGTACATGTGTACATATATACATATGTATGTGTACATGCGTAC ATATATACATATATACATATGTGTGTGTACATGTGTACATATATACATAT ATACATATGTATGTGTACATGTGTACATATATACATATATGTGTGTATGT GTACATGTGCACATATATACATATATGTGTGTATGTGTACATGTGCACAT ATATACATATATGTGTGTATGTGTACACATATACATATGTGTGTATGTGT ATATGTGTACACATATACGTGTGTATGTGTATATGTGTACACATATACGT GTGTGTGTGTATATGTGTACACATATACGTGTGTGTGTGTATATGTACAC ATATACGTGTGTGTGTATATGTACACATATACGTGTGTGTGTGTATATGT ACACATATACGTGTGTGTGTATATGTACACATATACGTGTGTGTGTATAT ATGTACATATATGTGTATGTGTGTAAATATGTACATATATGTGTATGTGT ACATATGTATACATATATGCGTACATGTGTATACACGTATGCGTACCTGT GTATATATATGCGTACATGTGCATACATATGTGTGCGTGTGTACACATAT ATGTGTATGTGTACACATATATGTGTATATGTGTACACGTGTACACATAT ATGTGTATATATATACGTGTGTGTGTACATATATTTACATACATATATAT ATATATATATATATTTTTTGGGATACAGGATCTCACTTTGTTCCCCAGGC TGGTCTCAAACTCCTGAGCTCAAGCAATCTTCCCATCTCAGCCTCCCAAG TAGCTGGGATTATAGGCACCCAGCTATGAGAAATATTTTAAATATCAGAT CCTTACAAAAAAAATAGTATTCTTTTATTGGAACTTCACTTGGTTTGCAC TTCCAACACCTGTTAGTTTATCCAGTCAGGCACTCCATATTTGGAAGGAA GGAGGATAATATTTGGGGAGAGGAAAGGTAAGAGAGGGGTGAGTTGGCAG TGATGGAAAGCAAAGTCAACCCCACTTGGTCACGACTCACTAACCTCCAA TGGAGAAAGTGTGTGAGTCTGCATGTATGTTTGATTTTTGATACATGAAA GAACATAAAAATATGACATTAGACTATTATACTTCAATTTTTAAAACTTA AGTTTTTTAAAGAAAAGTACGTTTAATGTTTTACAAAAATTATTTTATTT ATATTTAATAGCATTATATTCCATTATAAAAATTTCATTTATTGTAGCAA CCAAGGAGTTAAAAAAAACCAAGGATAGACAAATAACAAGAAATGTACAA GGCCTGTATGGAGAAAACATTAGATCTCCAGTGATGGACATTTAAGAACA CTGTAGGAAATGTGAAGGCATTTCTTATCTTAAAGAAGACGTTAAATATT TTAGAGTCAACTGGACATGGTGGCTCACGCCTGTAATTCCAGCACTGTGG GAGACCAAGGCAGGAGGATCACTTGAATCCAGGAGTTTGAGACTAGCCTG GGCAACATAGTGAGACCCTGTCTCTGCAAAATAAAAAAAAATATTGGGCA TGGTGGCATGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGG ATTGCTTGAGCCCAGGAAGTTAAAACTGCAGTGGGCTATGATTGCACCAC TGCACTTCGTCTGGGTGACAGAGCAAGACCCTGTCCCCCCAAAAAATTAT AGTCATATTGTCCTTAGATTAATCCATAAATTCAATGTAAACCCAATTTT GTGGCCAAAAACACTTTAAATATGGTGGAAATACAAAAAGCAAGCTGAAA AGATAGTTGAAACAGTGTAGTACACACATTTAATATTTGTAATTCACAGA ATACTCTTAAAAATAAGTCAGGTGGGCTGGGCACGGTGGCTCACACCTGT AATCTCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCATGAGA TCAAGACCATCCTGGCAAACATGGTGAAACCCTGTCTCTCTTAAAAATAC AAAAAAAAAAAAAAAAAAAAAACCCAAAACAAACAAAAAACCTAGCTGGG CGTGGTGGCATGCACCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGGA GAATCGCTTGAACCTGGGAGGCAGAGGTGGCAGTGAGCCGAGATCGTGCC ACTGCACTCCAGCTTGGTGATAGAGCGAGACTCTGTCTAAAAAATAAAAA TAAAATAAGTCAGGTGAAGAGGCTGGGCGTGGTGGCTCACGCCTATAATC CCAGCAATTTGGGAAGCCGAGGAGGGTGGATCACTTGAAGTCAGGAGTTC GAGACCAGCCTGGTCAACATGGCGAAACCCCATTTCTACTTAAAATACAA AATTAGCTGGTCGTGGTGGCACATGCCTGTAATCCCAGTTACTTGGGAAG CTGAGGCAGGAGAATTCTTGAACCTGGATGATGGAGGTCATGCCACTGCA CTCCAGCCTGGGTGACAGAACGAGACTTTATCTCAAAAAAAATAAATAAA TAAATAAATCAGGTGAAAAACAACCCAAGAGACCTAATAGGAGACTTCAC AAAAGAGGATACAGAAATAAACAAAGGAAAATATCTTTAACCTCAGGAGT ATCTGAAGAAAAATAAGTAAAAGTGAGATACAGTTTTTCATTTATCAGAC TAACAGATTTTAACATTAAACTGTTGGTAAAGGTATAGGAAATAGGCATC ATTAGGAAGACAAGTTGCAGTGTTTGTGAACAGTTTTGCAAATATGTTAA AGTTTGCATATTTCTTAACCCACAAATACTACTTTTACACATTTAAACTA AAAAGAAGTCATCACTTGTGCAACTGTACTTGTAAAAAACACATTATATA AAGCAAAAAAATCAAACCAAAACAAAAAGGACCTACCAAAATGCTCATCA TTGTTTAAATAAGGTACTATGTGATCCCTTCGTATAAGGGAATGCTCCAA AACCACTAAAAAGGATCCTATATAAGCCGGGCGCGGTGGCTCACCCCTGT AATCCCAGCACTTTGAGAGGCCGAGGCGGGCAGATCACTTGAGGTTGGGA GTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAAA TAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(64): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00609.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp2 HG01517.hp2 HG01975.hp1 HG01978.hp1 HG02027.hp2 HG02055.hp2 HG02083.hp1 HG02258.hp1 HG02683.hp1 HG02735.hp1 HG02738.hp1 HG02818.hp2 HG03017.hp1 HG03130.hp1 HG03209.hp2 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp1 NA18906.hp2 NA18946.hp1 NA18949.hp2 NA18952.hp1 NA18953.hp1 NA18967.hp1 NA18981.hp2 NA18986.hp2 NA18998.hp1 NA19003.hp2 NA19011.hp2 NA19068.hp1 NA19070.hp1 NA19077.hp2 NA19081.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017	a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 others(64): Show a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0090 a0001c0001t0001g0108 a0001c0001t0001g0263 a0001c0001t0001g0293 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0097 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0107 a0001c0001t0002g0249 a0001c0001t0002g0306 a0001c0001t0003g0063 a0001c0001t0003g0078 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0106 a0001c0001t0003g0351 a0001c0001t0004g0045 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0094 a0001c0001t0004g0096 a0001c0001t0004g0248 a0001c0001t0004g0250 a0001c0001t0005g0003 a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0009g0057 a0001c0001t0009g0058 a0001c0001t0013g0105 a0001c0001t0016g0069 a0001c0001t0017g0067	67	356	0.1882	-4202	c.41- others(17): Show c.41-20183_41-15982del	METAP1D	ENSG00000172878.14	transcript	ENST00000315796.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
C16orf89_chr16_5039122_5070956	5057216	AACAGAGT others(4189): Show AACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAGAAGGAAAAGAAATAT ACATATATATATGTATATATATATGTGTATATATATATATAGTGGTATAT ATATACATAGTGGTGTATATATATAGTGGTATATATAGTGATTATATATA TCGTGATATATATATAGTGGTATATATATAGTGGTATATATATAGTGGCA TATATATATAGTGTGTATGGTAGTATATATATAAAGAAAAGAAATATATA TACTGGTGTGTGTGTATATATATATATATGCCACCATATATATATTTTTC TTTTTCTATTTTTTTATATGTATATATATAGAGAGCGGCATATATATATA TAGTGGCATATATAATGTAGTAGCATGATCTCAGCTCACTACAGCCTCTG CCTCTCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAA TTACAGGTGCATGCCACTATGCCCGACTAATTTTTGTATTTTTAGTAGAG ACGGGATTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAAG TGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCC ACCGTGCCCGGCCTCATTCATTTGTTTTTGTTTACAGAGTTCTTTCTGAT GATTCTCTTTTATTCTCTCTTTCTCTCTCTCGTTGTGTTTTTCTGATGCC CTACAGTCCAGTTCAGCAGGCAAAGCTATCTGTTTCACTGGCCTAACAGA ATCCCAAATGCCAGATCCCAAATCGGCTCAATTACACAGCAGGAGTATGA TAGGGGCCCTACTTCTCCCTCCTGAGGTCCCAAGTAGAAATCCAAAGCTC TGCTTATTTTCCTGGTGTGTAGCAGACAGAACTACACTGCCATGAGCCCT TTTTCATTTATTTCTTTTTTCTTTTTTTTTGAGGCAGAGTCTTAGTCCAT TGCCTGGGCTGGAGTGCAGTGGCGCAATCTTACTCACTGCAACCTCCGCC TCCCGGGTTCCAGTGATTCTCCTGCCTCAGCCTCCTCTTGTAGCTGGGAT TACAGGTGCACGCCACCACGTCCAGCTAATTTTTTTTTTGTATTTTTAGT AGAGAATGGGTTTCACCATGTTGGCCCAGCTGGTTTTGAACTCCTGGCCT CAAGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTTGGATTACAGGCATG AGCCACCACGTCCGGCTGCCCCTTTTCCTTTTTCCTTCCCCTTCCCCTGG CACGGCGGGGGCTCCCTGGGCACTCACCATTCTGGCCCAGAGGAAGAAGA GCAGTTGGTGGGACAGGCAGTAGCCTGAGCAGCCGGGCTTGGTCATGAGG CTCCTGCAGAGGTCTGAGAGGCCGCAGGGCTCGCTGCTGTCCGTCCTGGG GGAAAGTGGTTCCAAGCTGTTAAGGATGGAGCGCTGACTCTGCCCTGCGT CTTCCCAGCCCCCTAGTTGTAGTTGTTGGAACTCCCAGTAGATTCCAGAC ACCCAGCTGGGCATGGGGGTTGACAGAGACAATACAGCAGTCCTGCATTT TGATTTGCTAAATCTGGCTGCCCTAGCCCAGGAAAGATGACGCTAGAGCT ATTCTGGGGTTGAGGAAGCCACCAAGGCTGAAACTTCCTATTGCTCCATG GGCCAAATCACATCTTTTCCAGCCCCGAACAGTGGGTACTTGAACCCAGA CCACTTGGAATCTGGGCCCAACATGCTTATTCCTCCTGCACCAGCCAGGC GCGGTGGCTTACACCTATAATTCTAGCACTTTGGGAGGCTGAGGCAGGCA AGTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAAC CCTGTCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACGTGCC TGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAGAATC ACTTGAATCCGGGAGGCAGAGGTTGCAGTGAGTTGAGATCGCATCACTGC ACTCCAGCCTGGGAGACAGAGCGAGACTCCATCTCAAAATAAATAAATAA AAATAAAATAAAATAAAGTAAAAATAAAAAATACACACACAAATACAAAA ATTAGCCGGGCATGGTGGCGCACATCTGTAATCCCAGCTACTCAGGAGGC TGAGGCATGAGAATCACTTGAACCTGGTAGGAGGAGCTTGCAGTGAGCCG AGAAAGAACACACCACTGCACTCCAGCCTGGGGGACAGTGAGCCTCTGTC TCAAAAAAATAAAAATAAATAAAAATTTTTAAAAAGCAGAGGTCCTTGGC TGGGGCCCAGCCCCTCCGTGAATCCAGCTGTGTCCTGGCCTAAGCACTGC TCTGAAGGATGCTGACAGGATGCGGCCTGGGCACCGGCTGCCCACTTTGC CCATGGGCCCTGCACCTAGGGCTGCCCTGGGGCCTTGTTCCAAGCCCACC AAACACCAGGATAAAATGAGGAGCCCAGCTAGGCTCAGTCCTGTCTTCCT GGAGCTGCATCCTCACTGGGGATGGGGACAGGCTCATAATACAAATGTAA ATTGCATCTGTGGCTATAAGAGGTGCCAGGAGAGGCCCTCACAGGAGGTC TGCTATGTGCTGGGGTCAGAGATAGGATGGGGTTGGAGGTAGGATGCTGG CGCCAGCCCTGGAGGATGGGCAGACTTCCTGAGGCCCAGGGGGTGGAGTG GGTGGGGTGGGGGGAGCAAAGTCTTTGAAGTGGGAGGAAGCCTTGGAGAG TCTGAAAAGAGGCCTCTAGGGGCCTGGAGACTTGGAACTGCGGAGAGGAA TTGGGGATTTGTCCTGGGGCCTGGAGGTGGTGTGTTCAGCCATGGCTGCT GGAAGGCCTGCTGTGGCATGGGAGGCCAGCGGGCGGCTGGAGCAAGGGGG ACCCTGCTGGAGTAGGAGAGGGCAGTACCCGGCAGCTACAGGGAGCTGCA CCTGTGTCTGCACAAACCCCTGGCTTCAGCCCTAGGGCTTGGAGAAGGAG GAGCGGGACAGGACCAGCTGAGAACTAGTGCGTTTGGGTTTCCAGCAAAT AGGGCAAGTGCAGGGCCCACCCGGTTCCCAGCAGCTGCACCAGGCACACG TCACTTCTCTCCTCTGAGAATGAGTCCTGGGGCCCGAACGTGGGGTACAC CAAGGAGGCATCAGTGTGGATCCAGGCATGTGGGAGCTTCCAAAACCCGG GCTGGAGGGTCAGCTGGAACTCTGGCAGAGAGGACAGATAGATGGGGTGG GGTGTGGGGGTGACCCAGGAGCAGTGGGCCACCCTGGTGTCCCCACCTCC TCCTGCAGCCCTGCCCACTGGCAGGTGCAGCTCAGGGCTCTAAGCCCTGT CCCCTGGTCCCAGATTGGGTTTGAAACACTCAAGAAAGCTCCTTTTGCTT ATAAAACCATTTTTTCCCCTAATCAATAGGAACAGTGATGGGACGGGATT TGACTAAACCCACTGCATCCCATGGAAACCCCAGATAAATAAAAGGTTTA GTTTCCCAGGTGCAGGGCTCACGCCTGTCATCCCAGCACTTGGGGAGGCT AAGGAAGGAAGATCGCTTGAGGCCCAACGTTCAAGACCAGCCTAGGCAAC ATAGCAAGACTCTGTCTCCACAAAAATAAAAAAAGTAGCCAGGTGTGGTG GTGTGCACCTGTAGTCCCAGCTGAGGCAGGAAGGTTGCTTGAGTCTAGAA GTTGGAGAATGCAGTGAGCTATGATCAGCCTTTTTTTTTTTTTTTTTTTT TTTTAAGAGGCAGGGCCAAGAGCGGTGGCTCACGCCTATAATCCCAGCAC TTTCGGAAGCCAAGGCGGGCGAATCACTTGAGGTCAGGAGTTCAAGACCA GTCTGGCTAACACAGTGAAATCCCATCTCTACTAAAAATACAAAAAATTA GCTGGGTGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAG GCAGGAGAATAGCATGAACCCGGGAGACAGAGCTTGCAGTGAGCCGAGAT TGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAGA AAAAAAAAAAAAAAAAAAAGCCGGGCGTGGTGGCGCATGCCTGTAGTCCC AGCTACTTGAGAGAGGCTAAAGCAGGAAAATCACTTGAACCCAGGTTGCA GAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCG	A A	exon_loss_variant exon_loss_variant	HIGH	HG01255.hp1 NA18612.hp2 NA18945.hp2 others(7): Show HG01255.hp1 NA18612.hp2 NA18945.hp2 NA18953.hp1 NA18965.hp2 NA18972.hp1 NA19000.hp1 NA19002.hp1 NA19011.hp2 NA19080.hp1	a0003 a0003	a0003c0004 a0003c0007 a0003c0004 a0003c0007	a0003c0004t0001 a0003c0007t0001 a0003c0004t0001 a0003c0007t0001	a0003c0004t0001g0027 a0003c0004t0001g0131 a0003c0004t0001g0141 others(6): Show a0003c0004t0001g0027 a0003c0004t0001g0131 a0003c0004t0001g0141 a0003c0004t0001g0142 a0003c0004t0001g0143 a0003c0004t0001g0150 a0003c0004t0001g0361 a0003c0007t0001g0126 a0003c0007t0001g0127	10	432	0.0232	-4196	c.359 others(16): Show c.359-976_628-1029del	C16orf89	ENSG00000153446.16	transcript	ENST00000472572.8	protein_coding	4/8			chr16	TogoVar
IL3RA_chrX_1331785_1387689	1372326	GTTTCTAA others(4188): Show GTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGG ACTAAGCCATCTCATAAGAAGAGACGAGGACACAGACACACACAGAGGGA CGACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAG GGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAG CCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGC CTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGCCATCTCATAAG AAGAGACGAGGACACAGACACACACAGAGGGACGACCCTGTGAGGGCACA GGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCA GCCCTGCCCACACCTGGATCTCAGAACTCCAGCCTCCAGGGCTGTGGGAG AATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACA GCAGCCTGAGATGGACTAAGACATCTCATAAGAAGAGGACATGAGGACAC AGACACACACAGAGGGACGACCCTGTGGGACACAGGGAGAAGACGGGGTC TCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTG GATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGT TTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGAC TAAGACATCTCATAAGAAGAGGAGATGAGGACACAGACACACACAGAGGG ACGACCCTGTGGGACACAGGGAGAAGACGGGGTCTCCAAGCCCAGGAGAG GGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGAACTCCAG CCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGC CTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATCTCATAAG AAGAGGACATGAGGACACAGACACACACAGAGGGACGACCCTGTGGGACA CAGAAGACGGGGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGC CCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAA TCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGC AGCCTGAGATGGACTAAGACATCTCATAAGAAGAGGACATGAGGACACAG ACACACACAGAGGGACGACCCTGTGAGGGCACAGGGAGAAGACGGCGTCT CCAAGCCCAGGAGAGAGGCCTCAGGAGGAACCAGCCTTGCCCACACCTGG ATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTT TCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACT AAGACACCTCATAAGAAGAGGAGATGAGGACACAGACACACACGGAGGAA CAACCCTGTGAGGACACAGGGAGAAGACGGCATCTCCAAGCCCAGGAGAG AGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAG CCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGC CTCTGGTATTCTGTGACAGCAGCCTGAAACGGACTAAGACATCCCATAAA AAGGAGATGAGGACACAGACACACACGGAGGGACGACCCTGTGGGACACA GGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCA GCACTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAG AATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACA GCAGCCTGAGATGGACTAAGCCATCTCATAAGAAGAGACGAGGACACAGA CACACACAGAGGGATGACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTC CAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCACTGCCCACACCTGGA TCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTT CTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTA AGACATCTCATAAGAAGAGGAGATGAGGACACAGACACACACAGAGGGAC GACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGG GGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGC CTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCC TCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGCCATCTCATAAGA AGAGACGAGGACACAGACACACACAGAGGGACGACCCTGTGAGGACACAG GGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAG CACTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGA ATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAG CAGCCTGAGATGGACTAAGCCATCTCATAAGAAGAGACGAGGACACAGAC ACACACAGAGGGACGACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCC AAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGAT CTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTC TAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGAGTAA GACATCTCATAAGAAGAGGAGATGAGGACACAGACACACACAGAGGGACG ACCCTGTGGGACACAGGGAGAAGACGGGGTCTCCAAGCCCAGGAGAGGGG CCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCT CCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTC TGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGCCATCTCATAAGAAG AGACGAGGACACAGACACACACAGAGGGACGACCCTGTGAGGGCACAGGG AGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCC CTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAAT CAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCA GCCTGAGATGGACTAAGACATCTCATAAGAAGAGGACATGAGGACACAGA CACACACAGAGGGACGACCCTGTGGGACACAGGGAGAAGACGGGGTCTCC AAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGAT CTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTC TAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAA GACATCTCATAAGAAGAGGAGATGAGGACACAGACACACACAGAGGGACG ACCCTGTGGGACACAGGGAGAAGACGGGGTCTCCAAGCCCAGGAGAGGGG CCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCT CCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTC TGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATCTCATAAGAAG AGGACATGAGGACACAGACACACACAGAGGGACGACCCTGTGGGACACAG AAGACGGGGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCT GCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCA ATGTGTTTTGTTTCCAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGC CTGAGATGGACTAAGACATCTCATAAGAAGAGGACATGAGGACACAGACA CACACAGAGGGACGACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCA AGCCCAGGAGAGAGGCCTCAGGAGGAACCAGCCTTGCCCACACCTGGATC TCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGT	G G	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0004 a0011c0014t0004	a0011c0014t0004g0044 a0011c0014t0004g0044	1	115	0.0087	-4195	c.875 others(17): Show c.875-6330_875-2136del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
TSPAN16_chr19_11291160_11320967	11316774	GAGACCAG others(4186): Show GAGACCAGCCTGGGCAACATAGCAAGACCCCCCCCGCCTTTTTTTTTTTT TTTTAAGATGGAGTCTTGTTCTGTCACCCAGGCTGGAGTGCAGTGGTGTG ATCTCGGCTTATTGCAACCTTCCCACATTCTGGGTTCAAGCAATTCTCCT GCTCAGGCTCCCATGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGG CTAATTTTTTGTATTGTTAGTAGACATGGAGTTTCACCAGGCTGGTCTCA AACTCCTGCCCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGCGCTGGG ATTACAGGTGTGAGCCACTGTGCCTGGCCTGACTCCATCTCTACAAGACA ACAACATCAACAAAACCCTCCAAAAAACAAACCTCAGACAATGTCATTTC TTCCCTTTATATTTCAGTACACATCTCTAACGATATGTTCATTTGCGTTC ACAACCATAACACCGTTATCACATCTAGGATAATTAACATTGCTTGTTTG GCATCCCTTAATACCTAGGCCATTGTTGAGTCTTCCTAATTGGCTCAAAA CTTTTTTAAAGGGACAGGGCCTCACTCTATCACCCATGCTGGAGTGCAGA GATGTGATTGTTGCTCAGGGTAACCTCTAACTCCTGGGCTCAAGGGAGTC TCCCATGTCAACTTTCTAAGTACATGGGACTACAGGCATGCGCCACCACA CCCAGCTAATTTTTTTTCTTTTTTCTTTTTTCTTTTTTGAGACGGAGTTT CGCTCTTGTTGTCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGC AACCTCAGCCTTCCGGGTTCAAGTGACTCTCCTGCCTCAGCCTCCTGCCT AGCTGGGATTACAGGCATGTGCCACCATGCCTGGCTAATATTTGTATTTT TAGTAGAGACGGGGTTTCATCATGTTGGCCAGGATTGTCTCGAACTCCTG ACCTCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGA GATCATGTCATTGCACTCCAGCCTGGGCGACAGAGCAATACACTGTCTCA AAAAAAAAAAAAAGTGTGAAATGCTTGGGGAGTGCCAGATGTTCTGGGCT TACTGCTTTCTTTGTGGTTTTGGTTATTTACCCTGTTCCTCTTGTCCACA TATTTCCTGAAAAGCATGAGTTACCAGCCCTGGCTGTAGATTAGAATCAC CTGGAAGCTTTAACAAACTACCTAAACCTGAACCACAGATCCTGATCTTT TATTATTATTATTATTTTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGC TGGAGTGCAGTGGCGCGATCTCGGCTCACTGCGAGCTCCGCCTCCTGGGT TCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCAC CCGCTACCATGCCCGGCTAATTTTTTGTATTTTTATAGAGATGGGGTTTC ACCGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTCGTGATCCGCCCCC CTAGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCAGC CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTTTGTTAGCCAGG ATGGTCTGGATCTCCTGACCTCGTGATCTGCCCGCCTCAGCCTCCCAAAG TGCTGCAATTACAGGCGTGAGCCACTGCGCCCGGCCAGATCCTGATCTTC TAATTTAATTGAACTGGGCTGTGACGTGGGTCTGGGGATGATCCTAGTGG TTTTTAAGATATAGTCATGGTCACAGCTGAGCATCAATGAACTCAGGGGT TCATTCAATGACCATAGCATCCTGAACCAATTCTTTCAGAAGAGGTTGCA AAATGGTGGTTTATCTAATTCCTTTTCTTTTTCTTTTTTTTTTGAGACAG TCTTGCTCTGTCGCCCAAGCTGGAGTGCAGTGGCACGATCTCAGCTCACT GCAACCTCTGCCTCCTGGTTTCAAGCGATTCTTCTGCCTCAGCCTCCTGA ATAGTTGGAGTTACAGGTGCCCGCCACCACACACGGCTAATTTTTGTATT TTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTGGAACTCC TGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACA GGCGTAAGCCACTGCCCCCAGCCAGAAATAAACTTTTTTACCCACACTTC TGACACCAAACATGTGGGGTTTTCCACACCAAGTAATTCTCCAATTCTCT GTGGACACCCGCTGGGTGTTCTACAATTCAGTTCTGACACCAATTACCCA GAGTTGGTGTGTGACCCCACAGATTTAAGGGCTGAGTCCCACAAAACTGA GCTTCCCTCACTTCAGAGGTATCAAGTATTGAGTTCCCAGGTTACCCATA TTTCTGTCCAATGTGGCTACAAAGTCAGGGGGGGTTCTCACAAGCCCCCT CCCTTTCAGGTTTGATAATTTGCTAGAATGACTCACGGATCTCAGGCAAG TGTTTTACTTACTACTCCTGATTTATTATAAAGGAGACAACTCAGGCCAG GCGCAGTGGCTTATGCCTGTAATCCCAGCACTCTGGGAGGCCAAGGCGGG CGGATCACGAGGTAAGGAGTCTGAGACCAGCCTGGCCTATATGATGAAAC CCCGTCTCTACTAAAAATGCAAAAGTTAGCCGGGCGTGGTGGCACACGCC CTGTAATCCCAGCTACTCCGGAGGCTGAGGCAGAAGAATCGCTTGAACCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCTGTCTCAAAACAAACAAAACAAAACAAAACAA AACAAAAAAACAAAAAAAGGAGACAACTCAGGAACAGCCAAATGGAAGTG ATAAAGAGGGCAATGTGTGGGGGATGGTGTGCAGCACTTCCACACCCTTT CTTGGGGAGGGGGGCACCACCCTTCCAGCACCTCCATGTGTTCATCAACT CAGAAGCTCTCCAAACCTGTCATTTAGGTTGTATTTTGTTTTGTTTTGTT TTGTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAATGCAGTG ACGCGATCTTGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGCGTAGCTGGGACTACAGGCGCCCGCCACCACGC CCGGCTAATTTTTTTGTTGTATTTTCAGTGGAGACGGGGTCTTACCGTGT TAGCCAGGATGATCTCGATCTCTTGACCTCGTGACCTGCCCGCCTCCGCC TCCCAAGGTGCTGGGATTACAGGCCTGAGCCACTACGCCCGGCCAGGACT TTTTTTTTTTTTTTTGAGACGGAGTTTCTCTCTTGTCATCCAGGCTGGAG TGCAATGGCACGATCTCGGCACACCCCAACTTCTGCCCCACTTGTTCAAG CGATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCC ACCAGGCCCAGCTATTTGTTATATTTTTAGTAGAGATGGGGTTTTGTCAT GTTGGCCAGGCTGATCTCAAACTCCTGACCTCAAGTGATCCTCCTGCCTC AGCCTCCCAAAGTGCTGGAATGACAGGCATGAGCCACCACACCTGGCCAA TCCTAGCACTTTGGGAGGCCAAGGCGGGAGCATGGCTGGAAGCTGGGAGT TCAAGACCAGCCTGGGCAACATAGCAAGATCCCATCTCTCAATCACTCAA TCAGCTGGATGTGGTGGTGCTTGCTTGTAGTTCCAGAAACTCAGGAGGCT GAAGTGGGAGGATCCTTTGAGTCCAGGAGTTCGAGGCTGCAGTGAGCCAT GATTGTGCCACTGCACTCCAGCCAGGGCCATACGGCAAGACCTTGTCTCC AAAAAAAAAAAAAAGAAAAGAAAAGAAAAAGAAAAAAGAAATGCTGGGGA GGGAGATTGCAGTACTAAATCAGGGGAGGGGGCAGTGAGAAAGTGAGATT TGCACAGTAGCCCAAAAGAGGAAGTTCAGTTAGGGGAGCTTTGTTGTATT AGTCTGTTTTCCTACTGCTGGAAAGAACTGCCCAAGACTGGGTAATTTAT AAAGGAAAGAGGTTTGCCCGTGTACGGTGGTTCACGCCTGTAATCCCAGC ATTTTGGGAGGCCAAGGTGGGCAGATCATGAGGTCAGGCGTTCG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	382	0.0026	-4193	c.93 others(10): Show c.937_*5129del	TSPAN16	ENSG00000130167.14	transcript	ENST00000590327.6	protein_coding		808		chr19	TogoVar
IL3RA_chrX_1331785_1387689	1372258	ACCAGCCC others(4184): Show ACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTG GGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGT GACAGCAGCCTGAGATGGACTAAGCCATCTCATAAGAAGAGACGAGGACA CAGACACACACAGAGGGACGACCCTGTGAGGGCACAGGGAGAAGACGGCG TCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACC TGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTT GTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGG ACTAAGCCATCTCATAAGAAGAGACGAGGACACAGACACACACAGAGGGA CGACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAG GGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGAACTCCAG CCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGC CTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATCTCATAAG AAGAGGACATGAGGACACAGACACACACAGAGGGACGACCCTGTGGGACA CAGGGAGAAGACGGGGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAAC CAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGG AGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGA CAGCAGCCTGAGATGGACTAAGACATCTCATAAGAAGAGGAGATGAGGAC ACAGACACACACAGAGGGACGACCCTGTGGGACACAGGGAGAAGACGGGG TCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACC TGGATCTCAGAACTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTT GTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGG ACTAAGACATCTCATAAGAAGAGGACATGAGGACACAGACACACACAGAG GGACGACCCTGTGGGACACAGAAGACGGGGTCTCCAAGCCCAGGAGAGGG GCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCC TCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCT CTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATCTCATAAGAA GAGGACATGAGGACACAGACACACACAGAGGGACGACCCTGTGAGGGCAC AGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGAGGCCTCAGGAGGAACC AGCCTTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGA GAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGAC AGCAGCCTGAGATGGACTAAGACACCTCATAAGAAGAGGAGATGAGGACA CAGACACACACGGAGGAACAACCCTGTGAGGACACAGGGAGAAGACGGCA TCTCCAAGCCCAGGAGAGAGGCCTCAGGAGGAACCAGCCCTGCCCACACC TGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTT GTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAAACGG ACTAAGACATCCCATAAAAAGGAGATGAGGACACAGACACACACGGAGGG ACGACCCTGTGGGACACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAG GGGCCTCAGGAGGAACCAGCACTGCCCACACCTGGATCTCAGACCTCCAG CCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGC CTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGCCATCTCATAAG AAGAGACGAGGACACAGACACACACAGAGGGATGACCCTGTGAGGGCACA GGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCA GCACTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAG AATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACA GCAGCCTGAGATGGACTAAGACATCTCATAAGAAGAGGAGATGAGGACAC AGACACACACAGAGGGACGACCCTGTGAGGGCACAGGGAGAAGACGGCGT CTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCT GGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTG TTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGA CTAAGCCATCTCATAAGAAGAGACGAGGACACAGACACACACAGAGGGAC GACCCTGTGAGGACACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGG GGCCTCAGGAGGAACCAGCACTGCCCACACCTGGATCTCAGACCTCCAGC CTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCC TCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGCCATCTCATAAGA AGAGACGAGGACACAGACACACACAGAGGGACGACCCTGTGAGGGCACAG GGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAG CCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGA ATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAG CAGCCTGAGATGGAGTAAGACATCTCATAAGAAGAGGAGATGAGGACACA GACACACACAGAGGGACGACCCTGTGGGACACAGGGAGAAGACGGGGTCT CCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGG ATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTT TCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACT AAGCCATCTCATAAGAAGAGACGAGGACACAGACACACACAGAGGGACGA CCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGG CCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCT CCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTC TGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATCTCATAAGAAG AGGACATGAGGACACAGACACACACAGAGGGACGACCCTGTGGGACACAG GGAGAAGACGGGGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAG CCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGA ATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAG CAGCCTGAGATGGACTAAGACATCTCATAAGAAGAGGAGATGAGGACACA GACACACACAGAGGGACGACCCTGTGGGACACAGGGAGAAGACGGGGTCT CCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGG ATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTT TCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACT AAGACATCTCATAAGAAGAGGACATGAGGACACAGACACACACAGAGGGA CGACCCTGTGGGACACAGAAGACGGGGTCTCCAAGCCCAGGAGAGGGGCC TCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCC AGGGCTGTGGGAGAATCAATGTGTTTTGTTTCCAAGCCGCCCAGCCTCTG GTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATCTCATAAGAAGAG GACATGAGGACACAGACACACACAGAGGGACGACCCTGTGAGGGCACAGG GAGAAGACGGCGTCTCCAAGCCCAGGAGAGAGGCCTCAGGAG	A A	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0012 a0008c0009t0012	a0008c0009t0012g0041 a0008c0009t0012g0041	1	115	0.0087	-4191	c.875 others(17): Show c.875-6400_875-2210del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11			chrX	TogoVar
SPPL3_chr12_120757510_120909358	120878952	TAAAATAC others(4182): Show TAAAATACAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCCCAGCT ACTTGGGAGGTTGAGGCAGGAAAATCACTTGAACCTGGGAGGCGGAGGTT GTGGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCA AAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATAAGATAATAAAA CTAAAATAAAATAAAGCTACAGTTTAATACCTGTCATGTAGACAGGGGAA GCTGCAGTCACATGCAATTCACCTCTGGAAAAGCACATTACTTTTGAGTT ACATCATCACAGCAGACTTTGAAGTATAAACTGACATTCCTCATCTCCCC CGCTCCAAAAGCTGCACACCTGGTCTGTGTTAGAGAATTCTACGGACTGA TTCTCTTCTTCACCTAGTTAGGATTTAACTTACTGTCCTTTGATTTGAAA CAAGAAAATAGAATGCAACTGTGAGTGGTACTTCCCAAAATAATGTTAAA GGAGAACTGTTCCAGGTATTGTTAACACGCTGAGCAAACTCTTCCCTTAA GCAAGTAAGCGTCTTAATATTTAAAGCAAAATTAAACAGAGATTTTTACC GCCCAACTTCTCATAGCTCATAATATGCTAATTCAGACCAAATTTCCAAG AGAGGGATTTAATATGCAGCCTTTTTCAAGCTTACTTGATTAAAGGTTCT CATTATCACAGAGAACCATTAATTGCAGAGTCAAAAATACCTGTGTTCAA ATGCTACATGTGCCACTCATTAACTATAAAATCTTGGGTAAGTAATCAGT TTTTCATCTGTAAAATGGGAAAAACACCACCTACATTTCAGGGGACTGAT TTAAAGGTAAAAGTTATATATATACACATGCAGTCAAATGTGGATTTAAA AAACTTACATATATATACAGAGTTTAACAATGTGCCTCACAAATTTTCAA TAAAGTTGCAATCTGCCCTAAAAGCAGAAGTTGGTGATACTTGGAATTCC CATACTCCACCTCTGTTCCCTGCTTTTATCTTTTTTTTTTTTTCACTTTT CATTCCTCGGTTTAACAATCCTACTTGATTTTCTTTTAATTTTAACTGTT AGTGAAGGGAGCCATGTTCAAAAGCTTTCCTACATATTGACTCACACCAC TCAACAGGCTACTGGAGGACAGGATGAAAAAAAAACACTGGGGCTGAGAC ACATTATTGAGTGAAAAAAGCCAGATAACGAATCTCAGCGTATATGGTAC ACTACTATCCTATTAAAAATGAATTACACAAAAGAATGAAGTTGGACCTT TACTATTATACAAAAATAGTCTCAAAAATGGATCAAAAACATACAAATAA GAGCTAAAACTAAAAACCCTTAGAAGAAAAAAGAGAAGGGCTTCATGACA TTGGATTTGGCAGATTTCATGGATGTGACACCAGAGAACACACAACAAAA GACAGAAAAATTGAACCTTATCAAAAGTAAAAACTTGTGCACCAAAGGCC ACTATTAACAAAATCAAAAGACAACCTACATAATGGGAGAAATTATTTGC AAATCGGCCGGGTGTGGTAGCTCATACCTGTAATCCCAGCACTTTGGGAG GCTGAAGTGTGCAGATCATGAGGTCAGGAGATGGAGACCATCCTGGCTAA CACGGTGAAACCCATCTCTACTAAAAATACAAAAAATTAGCTGAGCATGG TGGCACGTGCCTCCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATC GCTTGAACCCGGAAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGC ACTCTAGCCTGGGCGACAGAGAGAGACTCCGTCTCGGGGGAAAAAAAAAT TATTTGCAAATCATATAACTGATAAGGGATTGATATCCAGAATATACTAA TAACTACAGCTCAACAACAATCAACCCAGCCAAAAAAAAAAATGGACAAA GGACGTGAATAAACACTACTCCAAAGATACACAAATGGTCAATAAACGTG AACAGATGCTCAGCATCACTAATCACTAGAGAAATATAAATCAAAATCAC AATGAGATACCACTTCATACCCATTAGGATGGCTATTGAAAGAAAACACA CACACACACAAAATTCAACTAGTGTTGGCAAGGATGTGGAAAAACTGAAA CCCTTATACATTGCTGGTGGGAATGTAAAATTTGGCAGTCACTATGGAAA ATGGTAATGGTGGATCCTCAAAAAATTAAAATGTTGCCCAGGTGCGGTGG CTCCCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATCATC TGAGGTCAGGAATTCAAGACTAGCCTAACCAACATGGTGAAACCCTGTTG CTACTAAAAATACAAAAATTAGCTGGGCGTGTTGGTGTGTGCCTGTAATC CCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCAGGAGGCAG AGGTTGCAGTGAGCCAAGACAGCGCCACAGAACTCCAGCCTGGGCAAAAG AGTGAGACTGCCTCAAAAAAAAAAAAAAAAAAAGAGAAGAGAAGAGAAGG AAAAAAATTAAATGTTGAATTGCCATACGAGATTGAGCAATCCCACTTCT AGGTTTATATCCAAAAGAACTGAAAGCAGGGTCTCGAACAGATATTTGTA CACCAATATTCATTGTATTACTCATAGTAACTAAAAGGTGGAAGCAACTA CTGCCCATCAACAAATGAACAGATACACAAAATGTGGTCTTACCCATACA GTCAAGTATTATCCAGCCTTTAAAAGGAAGAAAATTCTGACACACGCTAA ATATAGATGAAGCTCGGGGGGCATTACTCTAAGTGAAAAAGCCAATAACA AAAAAAAAAAGAAACAAAATATTGTTAGATTCCATTTATATGAGGTACCT AGCATAGTCAAATTCACAGAGACAGAAAGGAGAACAAAGGTTGCCAGGGT GTGGGGAGAGAGGGGAATGAGGAGTTAAAAGTTTAATGGGTACAGTAGTT CCGATTAAACTTATCTATGGTTTCACCTTCCATGCAGTCAACCGTGGTCT GAAAATATTAAATGGAAATTTCCAGAAAAAAGTCGTAAGTTTTAAAGTGT GGACCATTCTGAGTAGTATGATGAAGTCTCATGCCATCCTGCTCCCTCCT GCCTGGGATGTCACTCATCCCTCTGTCTACCATCTTCATGCTATATACAT ACACTACCCCTACCCACCAGTTTGACATTTGATAACCATCTTGGTTATCA GATTGAATAAACAGTATATACAGGGTTCAGTACTATCGGCAGTTTCAAGG TATCCACTGGGAGTCTTGGGATGTGGATAAGAGGGGACTACTGTATACAG TGTCAATCTGGGAAGATTAAAAAGTTCTGGAAATGGATGGTGGTGAAGGT TGCACAATAATGTGCATGTACTTAATGCCACTGAGTTCAGTGACACTTAA AATGGTCAATTTTATGCTATGTGTATTTTACTGCAATATAACAGGGGTAC TGCATAGGACTTTGTATACACATGTGTTTTCATGCACACATTTCTAGAAA GATAGAAAGAAAACTGGTTATAAGCTTTCTTGAGACAGGGCAACTGGAAG ATCAGGAATAAAAGTGATATAATAAAAACTAGAGAGATTGAATACAGTGG TCTCCTATGTATCCACAAAAACTGATTATATATTAAATGGTATCAAAAGA CATTCAAGATATATTTAATTTTAAAAAGCATATAACAAAACACTATTTAC CATTTTAACATTACTTTCATAAACACACATACAAAAACAATCTCCACCTG GGCACAGTGGCTTATATCTGTAAACCCAGTGCTGTGGGAAGCCAAGGCGA AAGATTGCTTGAGGCTAGGAGTTCAAGGTTACAGTTAACTATGATGGCAC CACTGCACTCCAGCCTGGGCAACAGAGCTAGACCCTGGCTTTTTAAAACC AATCACAGAGGTAATGCTAGAGATCGTTGAGGAAAGCAGGGACTATTTTA TCAACATATAGTTCTGGGACAATTGGATTCCTAACTAATCCATACACAGA TATATAAAACTTAATTCTAGAGGCCGGGCGTGGTGGCTCACAACTGTAAT CCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATCA AGACCATCCTGGCTAACACGGCGAAACCCCGTCTCTACTA	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0068 a0001c0001t0018g0068	1	320	0.0031	-4189	c.23+ others(17): Show c.23+20704_23+24892del	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SYNE2_chr14_63848004_64231433	63894441	TGAACTCC others(4176): Show TGAACTCCTGGCCTCAGGGGATCCTCCTGCCGTGGCCTCCAAAGTGCTGG GATTGCAGGTGTGAGCCACTGCATCCGGCCATTATAAAATAACATGTGTT TGCATTGCTGGAACGGGAGTGTGCTGGGGCAGAGGTAGATAAAAATACAC TGCAGAGCCTGGACTGCTGTTCTCCCAGAGAGGAGATTGAGGGGCAGAAT GAGGGAATGGAGGGAAGGCAGAATAAGTATATTCACCAGGAGTATAATCA TTACAAATATATTCTTTGATGTAAAGTGTCCTTAGGAATATATTTTTATT ATGAATAATAATTCATTATGGCCCTCACTACGTTCTCTCTCTCCATTACT CTGTTCCATACTACCCTAGAAACATTGTTAATCTGTTGCTTGTAGGCAAG ACTCTGTTGATTCAGGCTTTCTATGGGACTCCGGCTATTGGTGATACACG TTTAGTTCAAGAGTGATGGGACATAAATCTGGCAGAAATGATAGTAGGTC ACAAAGTCATTCCTGTGTTTTCCGTAGGGATGCTTTAGCATGTTGTCTAC AAATTAGGCCTCTTCCTAGAGCTTACAGCTGGGATCTAGCTGTCTTCAAG TGATATGGCATTGAGAAATATTAAGATAATCTCATTTATTGAAAGCACAT AAATTTCCATTTTCTTTTCTTTTTTTTTTTTTTGAGATGAAGTCTCTCTC TGTTGCCTAGGTGGTGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCC GCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGG ACTACAGGCGCCCGCCACCACCCCTGGCTAATTTTTTTTTTTTTATTTTT AGTAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGA CCTTGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACTGCACCTGGCCAAATTTCCATTTTCTACTACCAATTTTTTCTT TCTCACCAATGAATAACAATTTACATTTGTGGCCCAGGAAGGGTGGTTCA CACCTGTAATCCTAGCACTTTGGAGGCCAAAGTGCATGGGTCACTTAAGC CTGGGAGTTTGAGACCAGCCTGGGCAACATGGCAAGATCCTGTCTCTATC AAAAAAAAAAAAAAAAAAAAATTCAGAAATTAGCTGGGCAGGTGGTGTGT GCCTATTGTCCCAGGTACTCAAGAGGCTGAGGTGGGAGGATGGCTTGAGT CCAGGAGGCAAAGGTGGCAGTGAGTTGAAATTGTGCACTGTACTCCAGCC TGGGTGACAGAGTGAGACCCTGTCTCCAAATCTCCAAAAAAAAAAAAAAA AAAAACCTAGAAAAAATTTACATTTTTGTAATTTCATTACAAAATTTCAT TACAATTTTGTAATTTCAACATGCTACATACTAAATGAGATAATCATCTT GTCCTTACAGAAAGTCTGTGACTTAATTTATTTATATCCTCTCTTATTCC AGGGAAAAGTTTGAAGCACTTTATAGAGAAACATAAAATTCTATAGAAGA AAAAATAGATGAGGACATTGGAATGAAGGAAAAATAGGGATAGGTGGATG TAGACAGTGGTAAAGCAACTTATTTTCTATAAAGTCATTTGTAGTTGCTA GAGATCGGCTGTAGCAGCCAAAAAAGGGAGGGAAACCTTGTTTATAAAAA TAACATGTTCATTAAATTAAAAGAATAGATGCCTAGGATCACAGTTTTTC TTGGTACTGAGACCTGAGAGAATTTTCCATAGCATGTTCTCATAAAAGGA ACACTGGTTTATGGGCTGTGTACTCCCGAACTCCTGTAGAAAGAGTACAA TGGTAGGTTTCTCTTGACTTTTTCCTATCATATCCTGCATAGTAAGGCTT GTGGGATCACACTGAAATACATTTTAATAAAAGCAGTTCTCTGAAGGGGT AGAACAATGCAGTTCAGGTTCATGGCTCCCTGGCAGCTGGACAGGATCCA AAGACAACATCCAGGAATGGGTGGACTCTGTTTCAGGCATTCCTCTATGA ATATTGTTTCTTGTAATCCAGTGTTTGTAAATGCGTGGCGGAGAACTTTG GGTTAGATTCCTTGGCAGGAATCTGAAAGTCTGAATGTTGGCCTGGACAA AATCATTACCCTCATTTAACAGATGAAGAAACAGGACCTTGGAGAAGCTG ATGATTGCCCAAGGCCGAGTGGTCAGTGGAGAAGCTGGGACTACAGCCGA GTTCTCCTGACTCTAAGTCTAGTGCTCTTTCAGCCATTTCCTCTCATTTC TCTAACTTACATAGAATTCTGTTAAAATTTTAAAGAGTTAATAATGACTA TTTTAAACATTGATAATGGACTCCCTACTTAGATGTTTAACTAAGTAAAC TATATAGCTGAAGTCTGTCCTCCCAGTCCTTTGCCCTCCACTCTGTGAAG TGGTGGGTATCCTGCCTTAGCATGTTTTTGTTCTTTTACTGTATATGTGT TCATGCGTGTGTTTAAAATGTATATAAATGGCCTGGCGCAGTGGCTCACA CCTGTAATTCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGTCAT CAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACCA AAAAATACAAAATTTAGCCAGGCATGGTGGTGCATACCTGTAATTTCAGC TACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTGGAGAT TGCAGTGAGCTGAGCTTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTG AGACCCTATCTCTAAATAAATAAATAAATAAATAAATAAATTTACATAAA GGACATATGACTTCATAGCATGTCTATCCTTTGTGCTGGCTCGTTTCCCC ACCTTTGTAGTTCTGATATCTATCCATGCTGATATTGGCTGTTCATTCAT TTTAGCTGTGAATAGTCTTCACTTCTGCATGAATCAGCGACAGTTTATCT GTTTCTCTGCTGACAGTATTAGATTATTTCCACTTTTTTCCTTACAAACA GTTCTACCCTGATTATTCTTGAATGTGTCTCCTTGTGTATACATGCACTT TTACAGGATTTTTTAGTTGGCAGAAATGAGCATCAGGCAGATGTGAGAAC ATCTTTGCTGAGCCCTCCTGGGCCAACCTTGGACCCAGCATGCCATTTGG GTTCATTCGCAGCCGGTGCTGTTCTGGCCTCAGTGGGCCTTCAGCTGCCC TCACAATCCTTGTATGCTTCTTTGGTTGGTTGGTTTGTGTTCTTAACTGG CCTGTTCCAAGCATTGTTTATTCCTCAAGGACCCCACACCACCCATGCTC CCCCTGCTCCTGCTCCCAGGAGATGACCTCAGCTCTTATTTTCCTGAGAA AAATGAAGTCAGATGATGAGAGCTCCGTTCATTCTTCTCTACTTCAAAAT TTCTCAGCATTCCTACCCAGAGGAACAGCGAGCATGTTTTGCAAACCACA AATTCTTCATGGAATGCATGGAGGAATACATTTTTTAAAAAAGTTTCTGA GATCCCAAATTGGAACTTTGTCTTATCATGAGCTGCTTTATGTTCAAAGC CACTCATTGAAATCTCTCTGAACACAGCCGCCAGCTCTTCTAGTGTATTT CCTAATGTATGCAAACCGTAATCATTCTTCAGCCTCACTGAGACAGCAGT CTGTACACTCTCTCATTTCATGGGTTCACTCCTGCCTGTAGTCACATCCC TCCTTCCCATGTAATCTTCCCCACAGCTTGCACCCCAAACCTCCCTCTCA GAGCCCTCCCTTTTCCTGCCTCAATCTGCTGCATCACTATCGTCCTGGGA ACGTCCCTTTATTTCTTCTGTATTCAATGCCCAGTCCCTGTTTTTCTCAC TTTTAGTTTAGTGTTCTATTTTGTTGGCATACTTTCGTTCATCTTGTTTT ACCTTATTTTGTTGGTATAGTTTTATTTTTTTTTGAGACAGAGTTTCGCC ATTGCCCAGGCTGGAGTGCTGTGTTGCCATCTTGGCCCACTGCAGTCTCT GCCTCCCTGGCTCAAGCGATCCACCCGCCACAGCCACCCGAGTAGCTGGG ACTACAGGCGCATGCCACCGCACCTGGTTAATTTTTGTTTTTTTTTGTAG AGACGGGGTTTTGCTAGTTGCCCAGGCTGGTCTC	T T	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0042 a0042	a0042c0089 a0042c0089	a0042c0089t0001 a0042c0089t0001	a0042c0089t0001g0061 a0042c0089t0001g0061	1	150	0.0067	-4183	c.-51 others(19): Show c.-51-14641_-51-10459del	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	1/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
CHRNB3_chr8_42692366_42742407	42714234	GCCTGTAA others(4171): Show GCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACAAGGTC AGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAA AAATAAAAAATAAAAAAAATTAGCCAGGCGTGGTGGTGGGCACCTGCAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGGTTGTACCTGGGAGCC GAGATCGTGTTACTGCACTCCAGCCTGGACGACAGAGCAAGACTCTGTCT CAAAACAAAACAAAACAAAACAAAACAAAACTTTTTAAAGCTATATGGAT TAAAGAAAGCTGAATGATTAAAAAAAAAACCATGAAAAGAAAACCAAGAT AAAACAGATATTTATAAAAAGCTATCATTGGTTTTACACAGATCTTAGTT CCAGAGCAGCTAATAATAATATTTAAGATTTACTGAGTACTTATTAAGTG CCCAGGCACTATGCTAACTGTGTAACGGGAATAATCCCATTGAATTTTCA CAACCATCCTATAAGGGAGGTTCTATTATAATCCTAACTTTGCAGATGAG GAAACAGAACTGGAGAGTGGAAGTGACTTGCCCAGGGTTAAGCACTGTTA GGGAAGTCGACTTATGTAGAGAAATCTTTCACTTGCCTTAGACTGGAGGG AGAGTTTGGAGAGTGTCCTGTTCTCCTGTTAGTCCTGTTGCTGTATAATT TCCTAACCCTGGTCTTCTAAGGCTTTGATTCCTCAGTCTCCGGAACATCT GATGGAGTTGGTCTAGAAAGAATTCAGGAGAGAATGAAGTTAGGATCCAC TCCATCTTCCATCCCTTCACCAGGATTTATTGACATCCTATGTGCCAGGC GCCCTGCTAGATCCTGGATGTATAAAGAGCAACACACACCACCGCCTGAA AGAAGAGGACATAGCGTTAGTTACTAAAAAATAATTACCATGATAAATAG CACAAAGAAAGTACATATAAACCACTGTGGAGCTTAAAAAATGACAATGA GACAGGAAGAAAGTCAGGGAAAGCTCCCAGGAGGAGGGGATATTTAATTT GAGTCTTACAGGACTAACAGAAGTTCTACAAGCCAAAAAGGTGGGGAAGT TGTGAACCACCTGAATAGTGAATAGTAGTCCAATAACACCACTATCCAAA AGCTCTCACATTTGAGCAAACCCATTGGTAACTCTTTGCAATCATCTCTG TGTCCCTCAGTCAAAATGAAAACAAAAATGCCCAATTCCCCCTCTTTCCT CATTTGCCTCCCAGACACTGAAAAATGTTCTCTAATTCATATCCACATGG AGAAGAAAATTCTACATACTTGGAACAAAAGCATGTTCCATGGTAGCGCA TGCAAATGAGATACTTGTGGGGTTTTTTAAGTCAATTCTCCTGTCTTATC CTGTTTCCATAGCTCTCCTCTGGTATATTTAGACACTCTTCTTCTATCCT CTCAACCAAAGAAAGAACTTTATAAAGCACAAATCTAGTGACATCCAGAG GAAGTCTTCTACATGGTGCTATTTTTATTTTATTGATTTTATTTTGCAAA CTAGTTTGTCTTCCTCCTTTGTACTTCCAGACAGTAATCAAAACCCTATA AACTATAAATATATTGTTAACATTGACTCACTGGAACTATGTGAGAAAGT ACTTACTGCTCCAGTCCCTCAGATCCTGCTCCATCATATCAAGGTTAGGA AAACGTGGAAAGCACCTTAGAGACAATGAAAATTAAACTGACCTTTTTTT TTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGCGC AGTGGCATGATCTCGGCTCAGTGCAACCTCCGCTTCCTGGGTTCAAGTAA TTCTGCTTCAGCCTCCCGAGTAGCTGGGATTAAAGGCGCCGGCCACCATG CCCAGCTAATTTTTGTATTTTTCGTAGAGACGAGGGTTTCATCATGTTGG CCAGGCTGGCCTCGAACTCCTGACTTCAGATTATCCACCCGCCTTGGCCT CCCAGAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTGGGCGAAACTGA CCTTTTTTGAAATGACACAAGGGTTGGCCGTTTTGCCTAGATGTTACAAT AGAAATAATCACTATGACAACAAATGCCAAATTTACTCAATCCGTATTTC CTGAGAGCCTGCTCTGCACTGTGTAAGTGATGCAGGGCAGATGAACCCCA AAACTGGGGCTTAGTCTGGCTTCACCGAGGAAAGAACTCAAGGACAGCGG CAGCAGAGATACTGCTCCCTACAGACCATGGCTACCCACCAGCAGTGCGC CCAGGCTAGGGCTGCAGGCATATTTATACCCACCTTTAATTATATGCAAA TTAAGAGGCAGTTTATGCAGAAATGTCTAGGTGGGTGGTAACTTCCAGGT CATTGCCATGGAAAGGGGTGGTAACTTCCGGGTATTGCCATGGCGATGGT AAACTGACATGGTGCCGTGGTGGCCCTGTCTTATGGAAAGCCGCCTCTGC CCGACCCTGTTTAGCTAGTTCTCAATCTGGTCCGGTACCCGAGTCCCCGC CTCCAGAGTCAGTTTCACCTTCTGCCTCATAAGGCCCTGAGCTGGGCGCT GTTGCATATAAAAATAAGGCAATGAGAGGACTAAATGACCCGGCTTCACT GTAGCTGAGACAGTTTGTTCTCCTCTCCCCATGACAATCCTGAGGAAAAT AAAACTGCTGGAATATCTGCCCAGGCCAACATCTTAAAGTAGCAGTGTCT TTCCAACAGCTGATGTCTGTTTTAGATCAACAAAAAGTTCAGCAAACATG AAGGTCTTATTGGATAGACCCCTGGAGCTGATTTCCCAGGAAAAATAAGA AGCAGACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGG CGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCC ACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAGCCGACCTGTTGTGGAAAGGTCAGGCTA GTACTAGAGGTCTGGGTGATCTCCCCAAAAGTCTACCATCCGCAACCTGG AATGGCACTTACAAGTTCATGAATTCATCTCAGATCTTTACTCATGATCT GATTTTCCTTCCTTTTCTACAACCTTACTCTGACCTTAGCAAAGGAGGCC AAGTTTGGACTTCTTACTCAAGTGGACCCTGGTAAGAATTGCGTAGGGGT CAAAAGGCCTACTGTATAAACTTGGGCAAGTCACTTCACCTCTCTGACCC TCAGTCTCTTCATCTATTAAATAGAGCTGATGCCTAGCTCACAGTGTTGT CTGGGGGGTTACATGAGATAATGTATGTGAATGTGACTAGCTCAATAAAT GTCACTTTCTGTTGCCACCTTTGAGCTTTCTCATCCTTTTTTTTTTTTTT TTTTTTTTTTGAGGCAGAGTCTCACTCTGTCGCCCAGGCTGGAGTATGGA GTACAGTGGCACAATCTCGGCTCACCACAACCTCCGCCTCCCGGATTCAA GTGATTCTCCCACCTCATCCTCCTGAGTAGCTGTGATTACAGGCATGTGC CACCATGCCTGGCTAATTTTTGTATTTTTAGTAAAGACAGTTTCGCCATG TTGGCTAGGCTGGTCTGGAACTCCTGACCTCATGTGATCGCCTACCTGGG CCTCCAAAAGTGCTAGGATTATAGGGGTGAGCCACCACGCCTGGCCTTCA TCCTTAATAACAAATGACATTTCTTGGCCTTAACAACTCATGAATTTAAC AGGAATATGAAACATATAATATGTCATGTTGGTGCCTTTAAGATTAATAT GAATCAACAAGAATTTGGCTTTAAGAATTTCACATCTAAGATGACTAGAG ATCCCAGGGATGTCCCAGAGACTGCAAATCAAGACAACAGCAAAGGATAT TTGTTCCTTATTATCTTTTGGTCCTATTAGCATTGAAGTAAGAATAATTT GGGGACTTGGCCGAGCATGGTGGCTCACA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	282	0.0036	-4178	c.249 others(17): Show c.249+3836_249+8013del	CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
HGFAC_chr4_3436968_3454486	3444165	AGCTGGGC others(4171): Show AGCTGGGCCTCGGAGGTCCGCAGGGGTCCAGGGGCCGGAGCAAGTCCCCG GAGGATGGGAGAACAGGTGGCTCCCGAGTGCAGGGCAGGGGCCCTGCACG GGGACAGCAGGTGGCAGGGTGTGAGGGCTTACTGTGCACCCCTCAGAGAA ATGCTTTGATGAGACCCGCTACGAGTACCTGGAGGGGGGCGACCGCTGGG CCCGCGTGCGCCAGGGCCACGTGGAACAGTGCGAGTGCTTCGGGGGCCGG ACCTGGTGCGAAGGCACCCGACATACAGGTGCGCCACGGGGTGTGAGCCG TGCCACTGACCCCTGACGGGTGTCCCTGTCCACACCCGAGTGGGAGGAAT GGCCTGAGGTCACCCAGAAACAAGGGACAAGGGGTGGACCCCGGCCCCGA CTCCGCTGTCGTGGGGCACTGCGCGGCCCCTGGCCCAGCTCCTCGGCCCT GCCCCCAGCTTGTCTGAGCAGCCCTTGCCTGAACGGGGGCACCTGCCACC TGATCGTGGCCACCGGGACCACCGTGTGTGCCTGCCCACCAGGCTTCGCT GGACGGCTCTGCAACATCGGTGAGTGGGTCAGCCCCCCGGGGTGCCCTGG GGCAGTGCCGGGTGGACCCACCGTGGGCCGGCCTCACTGCCCCTCTGCCC GCAGAGCCTGATGAGCGCTGCTTCTTGGGGAACGGCACTGGGTACCGTGG CGTGGCCAGCACCTCAGCCTCGGGCCTCAGCTGCCTGGCCTGGAACTCCG ATCTGCTCTACCAGGAGCTGCACGTGGACTCCGTGGGCGCCGCGGCCCTG CTGGGCCTGGGCCCCCATGCCTACTGCCGGTCAGCACCACGCCGCTCCAG GCCGCCGCATGCGGGGCAGGCAGGATTTGTCCTGGGGAGAGGCCCCCCGG CTCCCTAGGACCCAGGCGGGGCCAGCTCCGTCCAGACAGGCCCCGGAACC TCTGCCTGGGAGGCTGCCCGAGGGAGGGCCACTCTCTTCCCACTGCTCCA GGTGCGGGGAACCGCCCTGCTGGGGGTTCCGATGCCCCCTCCCCATGCCC TCTTCGAGGGGCAGTGTGACTCCCTGCCAGCCCCCACTTATGCACCGCAG GAATCCGGACAATGACGAGAGGCCCTGGTGCTACGTGGTGAAGGACAGCG CGCTCTCCTGGGAGTACTGCCGCCTGGAGGCCTGCGGTGCGCGGCTGGCG GGGGGTGCTGCCTTGGGCCCCACCGAGGTCACAGCAGTTTTCCCCGTGAT CCTCCTAGCCCCTCCGCACACCTGGCTACTGCATCTCTGACAAATGGGGA AACTGGAGCTCACGGGATCAGGCTGGTCCAAGGTCACGCAGTGGGTCGGT ACTGGGGTCACAGTGGGGAAGCAGCCCGCTGCAGGGGGCTGGTCACCAGG CGACGGCCTCGGGGTGGCACCTGCCCAGCCTGGACCATGCCCAGGATGGC CGCAGAAGCCTTTCAGGGAGGTGCAGGGAGGGCAGCGTGCAGGCCCCCCA GAGGCCACCTGCTTCCTGCCCTGGGGAGAGGCCCCCCGGCTCCCTAGGAC CCCGGCGGGGCCAGCCCGGGGCTCTCATGTGGGGGTCTCTGACTGTGCTG GGGCTGGCTGTGGGGTTCCGGGCTGCTGAGGGGGCCACAAAGGCCTCCGT GTGTCCAGCCCCTCTGGCCCTCACAGAGCCTCGGGATCGGGCATCAAACC CCATTCTACAGATTTGGAAACTGAGGGCAGAGGTGAGTGGGCGCCAGGGC CTGAGCAGCGTGGACAGGGGGTCCGGCCATGGCCCTCTGCAGCGCCTCCT GCCGGGTAGGGCCTGTGTGTGGAAGGGGGCTGGCCCTGTGAACCCCAGGG GTGTGACCCGGTGACCTTTGCTCCCAGAATCCCTCACCAGAGTCCAACTG TCACCGGATCTCCTGGCGACCCTGCCTGAGCCAGCCTCCCCGGGGCGCCA GGCCTGCGGCAGGAGGCACAAGAAGAGGACGTTCCTGCGGCCACGTATCA TCGGCGGCTCCTCCTCGCTGCCCGGCTCGCACCCCTGGCTGGCCGCCATC TACATCGGGGACAGCTTCTGCGCCGGGAGCCTGGTCCACACCTGCTGGGT GGTGTCGGCCGCCCACTGCTTCTCCCACAGGTGCACCTCCTCTGGGCCCC AGTCACCTGCCCTGAGGCCCCACACACCATCCAGCGTCACTATGCGCCTG TCCCCACCCGCTTGCGGACCCCATCCCGGTGCCTCTGCTGACCCCTTCCC GGGGTCCCCGGTAACCCTCTCTGACCCCTCTGGGTCTTGGGGCTCAGTCC TGAGCTGGGCATGCATGGACACTCCAGAAACCCTGTCCCTATTGAGGGAG GCCAGGGGTCAGTGGCATTTCCACAGAGGACCCAGCGCCTGCGGAGAGTG CAGTGGGCCAGGTCCTGTCCTCCCCGCAGGCCCCGCCCCTCCCAGAGTCC TGGCTCTCAGTAGGGAGCCAGGGAGCGCAGTGACAATGCGTCAGAGCCCT AGGAGCCCAAGCACAGCCAGGGAAACTGAGGCCCAGCCCACTCAGCCGGC TCCCCTCAGTGGGGGCGCACAGCCACCCAGGCCCACACTCTGGGAGGCGG GCCTCGAGTGGGGAGACCCTGAGACGGAGCAGCCTGGGCCAGACGCCCTT CCACCTTCGATGGGCACCCCAGTGATTAGGGGCAGGGGTCCGGCCAGCCG AGGGTCTGGCGGCCTTTCGAGGACCACAGCTCCCAGGGTGGGGTCCTGCG TGGCCCTGCAGAACCTGCAGCCGGCGGCTCCTGGGCCTGCAAATGGGGCC AGAGCCTTCCTCAGTGTGGAGAAATGGGGTTCCCCACATGGAGCCCAGGG CAGGAGGCCGAGGCAGGGTGGAGCGACCTCCACACAGCAGATGGGAGCCA GGCTCAGGGGCCCAGGCTCTGTGCCCAGCAGGAGTGAGGGCTGCATCTGG GGACCCCACAATGTGGATGGAAGCTGGGGCAGGGCCTGAGCAGGCCAGGT CTCCACCCACTCGGGTCGGCCTTGCAGCCGATCCTGCCTGGGCTTGGCCT GAGACTCCCCCCAGGGCTTGTGACCAGTGTTGTCAGGAGGGATGGCACCG CACTTCAGCTCCCATGCCTGGATCTGGGGGTGACTGGCAATAGCCCCTGC TTGGTGGTCCCTGTCTCCCCAGTATCAACAGCCCACACCCAGGCACCTGC TCAGACCCCTCCCCGGGACCAGGGTCCCACACCATTGGCCTCCGTGGGCC TGACAGGGGGTGGGGAGAGGTGAGCCCGGTGGCTGGGGGAGGGCTGGTCC ATGCAGCCTCCAGCCCCCCTTGCACAGCCCCCCCAGGGACAGCGTCTCCG TGGTGCTGGGCCAGCACTTCTTCAACCGCACGACGGACGTGACGCAGACC TTCGGCATCGAGAAGTACATCCCGTACACCCTGTACTCGGTGTTCAACCC CAGCGACCACGACCTCGGTGAGCTCCGGCGTGTCGTGGCTGCACTCTGGG CAGGTGGGCCCTGTGCTCCCCAGGCCAGGCCCAGACAGGGGCAGGAGCTG GGCAGACATGTGGTGCGGGGGAAGCTGGGGGCAGGGCAGGGAGGACAGGG CACCGCTCCCTTCTGGATCTCCCAGGCTGCCCTGTGGACCCCACTGGCTA CCCTCCCTCCACCACGGGCCCCGACAGCCTCCCGTTCAGCCCGCACACCA CAGGCTGACCCTGGCCACTCTTCTGATCAGTCCTGATCCGGCTGAAGAAG AAAGGGGACCGCTGTGCCACACGCTCGCAGTTCGTGCAGCCCATCTGCCT GCCCGAGCCCGGCAGCACCTTCCCCGCAGGACACAAGTGCCAGATTGCGG GCTGGGGCCACTTGGATGAGAGTGAGTTGGGAGGGGGGCGCCCAGCGCCC CGCCAGGGTGGACAGTGGCCAGCCACAGTGTGGGTGTCACGCTGAGGGCA TTGTGTCCCACAGACGTGAGCGGCTACTCCAGCTCCCTGCGGGAGGCCCT GGTCCCCCTGGTCGCCGACCACAAGTGCAGCAGCCCTGAGGTCTACGGCG CCGACATCAGCCCCAACATGCTCTGTGCCGGCTACTTCGACTGCAAGTCC GACGCCTGCCAGGTGAGCTGGTGCCCGCCCCACCAGGACCCGACTGGTGG GGGCTCAGCTGGTCCTGAGTCTCCGAGAT	A A	exon_loss_variant exon_loss_variant	HIGH	HG00738.hp2 HG00738.hp2	a0027 a0027	a0027c0042 a0027c0042	a0027c0042t0001 a0027c0042t0001	a0027c0042t0001g0111 a0027c0042t0001g0111	1	454	0.0022	-4178	c.598 others(13): Show c.598+8_1785+70del	HGFAC	ENSG00000109758.9	transcript	ENST00000382774.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC66A1_chr1_19307326_19334300	19330124	GCCTGGCT others(4169): Show GCCTGGCTCCAGACCCTGTTCTGATTCCACTTTCCTGGGGGTCATGACCC TCAGGTGCCTGGAGCACAGAGACGCCAGCTCCCCACCTTGTTGGCCTGAT CTCACCCCACACACCCAACCCTAGCTGTGGAAAACCAGAACCAGGGACTT GGGGTATCTGGTGGGGTAGTCTTGGGGAGAGACGCTGCGTCCCAGAGTGG GCCTTGCCTTTAGGATCTCCCTTCCCAGCCCCGGAGAAGGGAAACGGTGC CATGGCCATTCTGGTGCCGCAGATCCTTTGTGAGCACAGCCCTCCACTCA GCCTTTGCTGTGTCAGACACCGGGGCTGTGGTGAACCAGCTCCAAGGCCC TGCCTTCCAGGAGAGGAGATGGTTACCATGACCAGAAGGTAGAAATGTCA GGAAATGAGCAGATGAGACCAGCCCCAGGAGGGTCAATCAGGGAGGACTT CTCAGAGGAGTGGCCTTTGAGCTGGATCTTGAAGGCAGAGGGGAGGGCAG TTCAGGAAAAGGGAGGGGCAGGTACAGAGGCCTGGAGGTGGGTGTCTCGG GTGCTTCCAAGGTGGGGCTGCTTACAAGGAGCCTTGAAAGCCACACCAAT GCCAAGGACAAGGTCCTGGGGCACACCCAGCAGCAGCCCAGCAGCAGGTG ATGGGGTTTGGTCGGGTGAAGAGCCTTTTGCTAGAGAGAGGAGGCAAGGC ACACCTCTGAGACCCAGGTGGGCAGAGAGGGCCAGTCTCCCCTGCCCTGT CCCCCTAGGGGACACCCACGGAGCCCAGGATGCCATCTGGCATGCAGCTG TTAGTTGCACACTTGCCATGTGCGGGCTGCGCCGCCTGCCATCAGTGCAC GAGATCTCCCCGTCTTCACAGCCAGCTCTGAGATGGGGGAGTTTTTATTT TTTTTTGACACAGAGTCTTGCTCTGCCGCCCAAGCTGGAGTGCAATGGTG CGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCGAGCGATTCTCCT GCCTCAACCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCGCCACGCTCA GCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGG CTGGTCTCGAACTCCTTACCTCAGGTGATCTGCTTGCCTCAGCCTCTCAA AGTGCTGGGATTACAGGTGTGCCACCGCGCCCGGCCAAGATGGGAGTATT TTTATGGCCATTTTACAGATGGGAGAACAGTCTCAGCACAATTGAGCAGC TTGCCCAGCTAGGAGCAGCAGCAACACGAGACCCTCCAGCTTTGGGAGCC ACCCCACACCTGGCCAACGCTGGCGGCCCGTGTCCCCTTCCTCCATCCTT GCTGGGGGCCCATGGCTTGTGGCAGTTCAGCTTCACCCTCAGGAGTGGCC CGAACCCTGCTGGACCCAGGCTCCCTTCTCACCATCCTGAATAGCGACTT TGCTGAGCCTCTGGCCCTGCCGAGATTTCAGGATAAGTTACCCCCAGGCC CGAAGCCCCAGCTTGCCCTGGCCTGTGCCTGCCTCAGGTGCCAGCTAGAT GTCTCGCTCCACCTGGGTCTGGGACCTGGCTCCACACCAGTTACCTGGGA CCAGTAGGTGCCCTTCCAGCCTGAAGATCTGGGGGCACAGTATAGCCACA TGAGCCCCAAGTGTGGTCCTGAACTGGGGCCGGGTGGGGAAGAGTGAGAT GGGATAACATAGCCCCTGCTTGGAGGCCCTTCTCTGATGGGGTGACATAA TCCCTTCCTCCTGGGAAACACCAGCTTTTGGGGTGATAGCACTTTCAGGC AGGAGCTATGGTTCCTTCCTCAGGAGGCCTCCAATCTGATGGGGAAGACA TGGCCCCTCCCCCTGGGGAGTGCCCTGTGTGATGGAGGCGATACAGCCCC TACCTTCAGAGAGCACCTGGCCTGCAGCTCATCCAAACCTGAGTCTCCTC TCCCTTGGAGGCCTCATTCCAGCGCCCCAAGGAGGATTCAAACTGTTGGG GCTGGAAGAACTTGGTGGCCTGGGTCCCTGGAGCCCTGTTGAAGGAGCTG GTGACATTCTGATGCTGGAGGCAGGTGACGGGGAGCACAGACTTTGTGTC CTGCACACTGAGCTCCAAGTGTGCCCCAGCCACTGAGCCTTGTGACTTGA GCAGATGTCCGAAGCCGTTTCTTCATCCCATGAGACCAACAACACTGTCT GCCTCAGAACATAGCCGTGATCAAGATGAGCACGGAGGCTCGTGTCCCAG CACCTGGCACACAGTAAGTGCCTGGTAAATAAACAATGGCTATATTTGCT TGTCATCAGGGGGCTTACCAATGCCTGGAACCTCCCCCAGGTTCCTCACA AAGAGAAGGGCCAAGGCCGGGTGCAGTGGTTCACGCCTGTATTCCCAGCA TTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGCCAAGGAGTTCAAGACC AACTTGGGCAACATAGCAAGACCCCATCTCTACAAAAATTTAAAAAATTA CAATAAAGGCGAATCTCATCGATGGGATTCTGCCATACTGATGGGGCCGT GTTTGCTGATGGTGGGCAAACATGTTACCAAGTTAAACGCCTCCACAGGT GGCTTCCCTTTCTCCCTGGCTTACACCTCCTGCTCCTTCCTGCAGGTCAT GGGATGGCAGGATGCTTGTCTCCAGGTGTGGCCTGAAGGGAAAAGTGTGG ACAGTTTGGTGTGATCAAGGAAATGGAACCACGCTTACCAGTTGCCCTTG TCCAGGAAGGGCTGGCTCCCTTAGGACGCCCACATGGAGCATGAGGTTGG GCCAGGCACCCCCAGAGGTCCCCGCCTTGGCAGGTTCTGTTTTACCTGTT GAACGAGACACTGTATGGGGAAGTGACATGCGCAGTGCCTGGCCCAGTGC TGTGCACACACGCTGCTTCGCTTCCTCAGGTTCCGGGGATGGGATGGGAC AGAAAAGCTGGTTGCTTAGCTGGTGGCGTTCTCCAGCAAAGCAGAAGGGA TGGTCCTGGCAGCCCTGTGCCGAGCACTGGACCCCGCGCCCTCCCTGGCT CTCTCAGCCCCAAGGTCCCATTAGTTATCAAACCTGGTTTTTTGTTTTTG TTTTGAGACAGAGTCACTCCGTCACCCAGGCTGGAGTGCAGTGGTACGAT CTTGGCTTACTGCAGCCTCCACCTCCTGGGCTCAAGTGATCCTCCCACTT GAGTGCCACCACGCCCAGCTAGTTTTTGTATTTTTGGTAGAGATGGGGTT TCGCCATGTTGCCCAGCAGGCTGTTCTCAAACTCCTAAGCTCAAGTGATC CTCCCACCTCAGCCTCCCAAATTTGCTGGGATTCCAGGGTTTTGAAGCCA CAGCCAAGACGACATGGCCTTCCATTCCTGAAGCCGAGGAAGGGGAGAAA GCCACAACCTTCACCACTCTCCACCCTTTCTGTCTGTGTGACTTGGCTTT CATCGGAGCTGAATGACGGGACCCCAGAGGTGCCGGGTGACAGCCAGGTG CAGAGCCTCAACTACCCCAGATGGTAAAGCTTTAAACTGATCCACTGGCC AGGTGAGGCGACTCATGCCTGGAATCCCAACACTTTGGGAGGCTGAGGCA GGTGGATTGCGTAAGCTGAGTTCAAGACCAGCCTGGGCAACGTGGTGGTG TGCACCTGTAGACCTAGCTACCTGGGAGGTTAAGGTGGGAGGATTGCTTG GGCCCTGGAGGTCAAGGCTGCAGTGAGTCAAGACAGCACCACTGCACTCC AGCCTGGGTGACAGAGACCTTGTCTCAAACAAAACAAAACAAAACAAAAC AAAACAAAACAAAACACAGGAAAACCTGGATCTGCTTAGCATTGGCCCTA GGGCAGGGAGTGGGTTACCTTCCACCGTGGATTAACTCAGTTCAACTGAT AACTACTCCTCCAGGCCCCCAGCCTGGGACAGCCCTGGGGACACAGTCAC CCAGTAGCAGCACTGTGCCCAGCACAGGTAAGCACTCAATAATGACGACG GTTACTAAGTACTCCACCCCCACCAAACAGTAGGCAGAGACTGTCTCTCC TGTTGGCCATCATAACCCCAGTACTCAGTAGGCGCTGAATGTTTGGTGAA TGAGTAAGTGAAGGGAAAGCTGAGGCACCAACCCTCAGGGAGCCCTCAGT CTGGTGGATGTAACCAACAACCACAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	456	0.0022	-4176	c.14 others(11): Show c.1482_*5657del	SLC66A1	ENSG00000040487.13	transcript	ENST00000375153.8	protein_coding		825		chr1	TogoVar
RYR3_chr15_33305967_33871102	33614342	TTCCAAAG others(4166): Show TTCCAAAGTCTGAAGCACATCTCTAATGATTTCAGATAAAGGATTTGGGC TTGCAGTATCATTTAAAGCAACATATGGGAATGTCCAACTGATTGGATCC TTATTAATTTTTACTGTTATTTGTTATTTTAAATCTTTGCTGATTTGGAA AAATTGTACCTTAGAGTATTAATTTTTTCTTTTTTATTACGAATGTGGTG AAACATTTTTTATGCTTACTTTTAATGTGCTTTTTCCAACACAGTATTTT TGCTAACTTTGTGTTCTCAGCCTTTCTGATATTTATTTTTTGGTAGATAT CTTACATATTTTGGATATACTGACTTTATATAGTATATGTAATATATTTA CATGTTTATGTATAATAATTTTATATTAAGGATGTTAAACTGTTTTTTAT TGGTTTCAAATATTTCTCCCAGTTTCTGATTTATACTTTAACACTTGGGT TTTTTCCTATTGTTTTTTGTTTTTCTTTTTCACAAAAGGAATGTACATCA AAGAAAATAGGAGGAACTCATAATAGTACCACCTAGAGATAATCATATTG GCTTTTTATATACACAGTTAAATATTGTTCATTTAATTGGGCTTGTGCTA TGCATGCTGCTTTCCTATATACTATTGCTATTTCTCTGCCTCTTTCCTCG TACCTACCAGTTGGATGCTATTTTTAATTATTTTAACCACGTTATTCATT TTAATGTCTGTAAGGCAAAACCCCACAATAACCCTTCTTTCCCAAACTTT CCTCAGCCATTCTTCATCCCTGTATTTTAAAGAGATCACAATCAATTGAG CAGGAGACTGGAGTCAACATAGAATCATACTAGTGTCCATGGAAGCCCCT GGAAAGGGTCATGGCAGGAGGAGAGTTGTGGGAAGCAGGAGCTGAGATCT GGGATCACAAAGAAACCATTTCAGGGATCCAGGTCCAAGTGAGGGGATTT TCAGGGTGAAACCACTCCAGTAGGCCTCAGCACCTCAGGTGGATTGGTAA ACCAAGATATGTTTATATGTTTTCCAAAGTAGGATTTTGGTTCTGTTTCA ATTATATAAACTATTTAGAAATAAAGAATTGTCCTATGCGAATGGTACTC AACCTTTGGAATTTGAGACAGATGTGTGTGTATGTTTGTATATATACACA AGCATATTTACAAACATATTCATATAAATGGATATAATATATTGAAGTTA TATATTGGCATTGTTTGAGGTTCTTGTAACAAATGGAGAACCAGTAGAGT AAAGCTTTACTGAGGTTGAAAATCTTCTCATCACATATTCAAGCCAGGGA ATCTTACGCTATCTGCAGGCACTGTGTTCTAAGAGTTGAAAGTTCTTCTG TGCTGAGGATATTTCATCCCAATTCTTCCTTTTTAAATATGTGAGGATAC CACATAGAGCTATTCTCATTGACAGCCATCAGAAGCATGTGGAAAACGGG GAGTGTTGTTGACAAGAGAGGCGCTGTAAGCACAGAAAAATCTGATTGGA GCAAAAGCCTTCTGGAAGAGGGAAAGGACCTTCTAGCCCTATTTTCCATC TTCCCCACTCCACTCCTTAGGAATAAAGAGAATGAGTACAAATATAAATA CAACACAACAGTGTTGGGATCATACACCCTTTGACTCAGGAACTTTCCTG AAGAAACAAGGTTACTCTGAGTAGTCAGTTCCCGGGACTGCATTTGCATG TGTAGCTGGTGGCCTTGGTCACCCACCATTAATACTGCTCCCACTTTTAC TTATTTTGCCCATGTCCACTCATGGTTTTTTACTCATTTTCAAAGGGAGT ACACCTATTTCACAAGCAAGTCATCTGAAAAAACTACTTAGGCAAATTTA GATCTATGGAGAAGGGATCTTCTCCAGTCTACTAGCTAATGAACTTTTCC ACATTTTGTGTTTAGAGAATGGTACATCTGCTCTCAAATGTTGCATAATG ATTCTGAATCATTAGTTCATCCCTTCCGTCTCCCTCAGAACAGTGAGATA GGATCTTTGTGTCTGTGATTTTTTAGAGGGTAGTGGAGGGATTTTTTTGG AATCCTCTTGACAAGAACCGCAGTTAGCAGGTGAAAAAATAGTTGACTGA AAGGTATCCACATGTAGAAGACATTTCTGGGATCTGGTGTCTAGGTCAGC AGATCATGCAGCCTTCTGAGTGCACAGATAAAGGAGAAGCAAAGTTGCAA GAGAAGAAGAATGAGATGACTAATCATTTAGGAGGCACAACTGCTGAGGA AATTTAAGAAACCGAAGGGTCCAGATGTGTTGACTTGAAGAACCAACAGC TTAGCTCTGAGAGCTTTTTGCTTATAGCAGCTGAACAGGTGGAAGGCTAA AAAGCAGTGCCAGTGGGGTGTGCAGCGGGGCTTGAAGTCACTCAAGCTTC CTGTCTCTCAGGAAACTATGAGCTCTGATATATTCCTGGCTTCGGGTCTC ACAGCATGTTGTGATTTGAAGAGAGGTGGAACCACAGGGTCTGTGTAGTT GGGAAATACATTTTACTGAAATGCCTCTAGTGCATCACATGATGACCTTG GTCAGGGTCAGTGCAGGACCTGTACTGGGGGCTAGCCAGTTGCTTATAAA TCAAAATAAACCGATTGGGTATTCTACAACCCAAGTGTTATTCTTACATC AACTGGTAAAGTATGATTTGGTGCTGAAACCCAGCAGTTCTTCTCTGTAC TACTTTAGTTCAGTTGAACAAAGAGCTAGAAAGAGAAACCACAATATGAA TTCCAAGTTAATTAAAGTATCTTATTGAAAAGAAATGTATTGGTCGGGCG TGGTGGCTCACGCCCGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGCGG ATCATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAATGAAACCCC GTCTCACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAG GCGGAGCTTGCGGTGAGCAGAGATCACACCACTGCACTCCAGCCTGGGCG ACAGAGTGAGACTCTGACTCAAAAAAAAAACGTATTTTATAATGAAATTG AAAAGGAATTATTGTTTCACCCAATACTGTAGATCACTTGCCTGGTTTTA TAGCATCTCTCCCAGCAAGATGCAAAGTGTTATACCTGTCTAGAAAGAGA TTCTTTTTCTCCCATCATAGAAGTCTTCAGAGTTGTTTCTCATATTTATT TTTAACTTCCGTATGGCTTCTAAGTTAGACTTGAGTTCTCTTTCACAGTC CTGTTTCCTCCTGTTTAATGGTCTTTACTGAGATCCTTGTCTTGAATTTT TAAAATAATTTTTATACTTACAAACTATGTTGTTAATAATACCTGATTAG GATGTCCCTGCCAGCCGTCATCGAAGAGCAAAGCTACATGAAGAGCAAAA ATCTTTTTCAATTAGATTTACCCACAGTGAAGTCAAAGTTAGCATGAGTA ATTACTGACAAAACCCACAAATCAATGTCATAGCCTCTTTTCTCTTAATG AATATGCCTCCATAGTTTTCTTCTCAATGTGGTTTGTTTATAGACAGTAT TGTTAGTGCAGTAGGCCCCCAGTGTAACAACCGTATTCATTATAGAATAG AATTTGGGATGAGGTATATGTACCTTGTAGCCCACCGAAAAGGCTGAATT ACTTAGATGCCAGGAAGCTCTTACTAAAAGTTGATCTTATATACACCCCA CAAGTGGCATGAATCAGATAGACAGCATTATACAGAAAGCCATAGTATAT AGTGAAATTTGGGTGCTAATTTTTTTTTGCAGAAAATTCATGAGTTAGGC ATCATAGAATATATTTTATGGCTATAGTTAAACTCCCCATAAATCTATTT AATCATCTTATGTAACTCTTTTGCCAGCTCTAATTTATAAAAATAACCAT ATCCAAAGATGTTGTATTTGTGGTTGCTGTTTGTTTTCTGTTGGTATTCT CCAGACTTGGCTAAAATTCAGGTAACCAACAGCTTAGCTATTTCCAGCTT GCTGTGGTCAATGCTGTGGAAATTATTGCTGAGATAAATATGCTTCTTCA GAGAACATGATGGGCACTGGCTGGATTGCCCTGAGCTTTCATCAAACACT AGCCAGAAAGAAATATGAATGTGG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0099 a0001c0009t0002g0099	1	154	0.0065	-4173	c.235 others(18): Show c.2357+968_2357+5140del	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	19/103			chr15	TogoVar
SPDYE3_chr7_100302702_100327196	100308896	ATGGTTTG others(4159): Show ATGGTTTGGGGTTTGGGGTCGGGGTCTAACGTGATCAGTTGCAGAAGCAT TACACGGTGGCCTGGTTTCTTTACTCAGCCCCTGGGGTAGATCCCAGCCC CCCACGTAGGTCCCTTGGCTGCAAAAGGAAGAGGGAGTGTTTGGATGAAT CTGATGATGAGCCAGAGAAGGAGCTCGCCCCTGAGCCTGAGGAGACCTGG GTGGCGGAGACGCTGTGTGGCCTCAAGATGAAGGCGAAGCGACGGCGAGT GTCGCTCGTGCTCCCTGAGTACTACGAGGCCTTCAACAGGCTGCTTGGTA GGAGGACACCCCAGAGAGCACCTCCAATCCTGTTCTTTCTAAAAAGAGGA AACTTCCAATAACCACACTTTTCCAATGGGAAAAATATGCCCCAGTGGGT GAGCTCTCCATGCGGGAGGACTCTGAAGTGATCACTCATGAGGGACACTT AGGAGACAACAGAGGATTAGGTAGACTTGATAAAGGTCGGTGCTTGGGAT AAGAAAGCTTGGTTTTGGGCCAGGCGCTGTGGCTCCCGCCTGAGATCCCA GCACGTTGGGAGGCTGAGGCAAGAGGATTGCTTGAACTCAGGACTTCGAG GCTGCAGTGAGCTATGACTGCACCACTGCACTCCAGCCTGAGTGACAGAG CAAAACTCTGCGTCAAAAGAAAAACCAAGGCTGGGCACAGTAGCTCATGC CTGTAGTTCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGCTTGAGCCT GGGAGGAAGAGGGTGCAGTGAGCCGAGATCGTGCTACTGCACTCCAGTCT GGGTGAGAGAGTGAGACGCTGTCTCAAAAAAAAAAAAAAAAAAGAAGAAA AAAAAGAAGGGTCAGAGGTCAGGAAGGAGAACCTGGGGAGGGTGTGTGGG AAGAATGGAGAAATTCAGGCTGGGTGCAGTGGCTCACACCTGTAATCCCA GCACTTTGGGAAGCCAAGGCAGGTGGATCACGTGAGGCCAGGAGTTTGAG ACCAGCCTGGCCAACATGGTGAAACCCCCGTCTCTACTAAAAGTACAAAA TTGAGCTGGGCATTATGGCAGGCACCTGTAATCCCAGCTACCTGAGAGGC TGAGGCAGGAGAATAACTGGAATCCGGGAGATAGATGTTGCAGTCAGCTG AGATTGCACCACTACACTCCAGCCTGGGTGACAAAGCAAGATTCTGTCTC GAAACAGAAAAAAAAAAGAGGGCCTCAGAGAGCCAGGGACCAGGGAACGA TATGACGCAGTGTTCTGAGGACAGAGAGAGGGAAGAATGGGGAGGGGAAG GAGTGGCACATGGGGTTGAGCAGAGGAGAAAGTCAGAAAGGTGGCTTGGA GAAGCCAGCAGTCTGAGAGGCTGGGGAGGATGGAGAGTGGTTTGGGGTTT GGGGTCGGGGTCTAACGTGATCAGTTGCAGAAGCATTACACGGTGGCCTG GTTTCTTTACTCAGCCCCTGGGGTAGATCCCAGCCCCCCACGTAGGTCCC TTGGCTGCAAAAGGAAGAGGGAGTGTTTGGATGAATCTGATGATGAGCCA GAGAAGGAGCTCGCCCCTGAGCCTGAGGAGACCTGGGTGGCGGAGACGCT GTGTGGCCTCAAGATGAAGGCGAAGCGACGGCGAGTGTCGCTCGTGCTCC CTGAGTACTACGAGGCCTTCAACAGGCTGCTTGGTAGGAGGACACCCCAG AGAGCACCTCCAATCCTGTTCTTTCTAAAAAGAGGAAACTTCCAATAACC ACACTTTTCCAATGGGAAAAATATGCCCCAGTGGGTGAGCTCTCCATGCG GGAGGACTCTGAAGTGATCACTCATGAGGGACACTTAGGAGACAACAGAG GATTAGGTAGACTTGATAAAGGTCGGTGCTTGGGATAAGAAAGCTTGGTT TTGGGCCAGGCGCTGTGGCTCCCGCCTGAGATCCCAGCACGTTGGGAGGC TGAGGCAAGAGGATTGCTTGAACTCAGGACTTTGAGGCTGCAGTGAGCTA TGACTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAAACTCTGCGTC AAAAGAAAAACCAAGGCTGGGCACAGTAGCTCATGCCTGTAGTTCCAGCT ACTCGGGAGGCTGAGACAGGAGAATCGCTTGAGCCTGGGAGGAAGAGGGT GCAGTGAGCCGAGATCGTGCTACTGCACTCCAGTCTGGGTGAGAGAGTGA GACGCTGTCTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAAAAAAAGAAGG GTCAGAGGTCAGGAAGGAGAACCTGGGGAGGGTGTGTGGGAAGAATGGAG AAATTCAGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGG AAGCCAAGGCAGGCGGATCACGTGAGGCCAGGAGTTTGAGACCAGCCTGG CCAACATGGTGAAACCCCCGTCTCTACTAAAAGTACAAAATTGAGCTGGG CATTATGGCAGGCACCTGTAATCCCAGCTACCTGAGAGGCTGAGGCAGGA GAATAACTGGAATCCGGGAGATAGATGTTGCAGTCAGCTGAGATTGCACC ACTACACTCCAGCCTGGGTGACAAAGCAAGATTCTGTCTCGAAACAAAAA AAAAAAAGAGGGCCTCAGAGAGCCAGGGACCAGGGAAGGATATGACGCAG TGTTCTGAGGACAGAGAGAGGGAAGAATGGGGAGGGGAAGGAGTGGCACA TGGGGTTGAGCAGAGGAGAAAGTCAGAAAGGTGGCTTGGAGAAGCCAGCA GTCTGAGAGGCTGGGGAGGATGGAGAATGGTTTGGGGTTTGGGGTCGGGG TCTAACGTGATCAGTTGCAGAAGCATTACACGGTGGCCTGGTTTCTTTAC TCAGCCCCTGGGGTAGATCCCAGCCCCCCACGTAGGTCCCTTGGCTGCAA AAGGAAGAGGGAGTGTTTGGATGAATCTGATGATGAGCCAGAGAAGGAGC TCGCCCCTGAGCCTGAGGAGACCTGGGTGGCAGAGACGCTGTGTGGCCTC AAGATGAAGGCGAAGCGACGGCGAGTGTCGCTCGTGCTCCCTGAGTACTA CGAGGCCTTCAACAGGCTGCTTGGTAGGAGGACACCCCAGAGAGCACCTC CAATCCTGTTCTTTCTAAAAAGAGGAAACTTCCAATAACCACACTTTTCC AATGGGAAAAATATGCCCCAGTGGGTGAGCTCTCCATGCGGGAGGACTCT GAAGTGATCACTCATGAGGGACACTTAGGAGTCAACAGAGGATTAGGTAG ACTTGATAAAGGTCGGTGCTTGGGATAAGAAAGCTTGGTTTTGGGCCAGG CGCTGTGGCTCCCGCCTGAGATCCCAGCACGTTGGGAGGCTGAGGCAAGA GGATTGCTTGAACTCAGGACTTTGAGGCTGCAGTGAGCTATGACTGCACC ACTGCACTCCAGCCTGGGTGACAGAGCAAAACTCTGCGTCAAAAGAAAAG CCAAGGCTGGGCACAGTAGCTCATGCCTGTAGTTCCAGCTACTCGGGAGG CTGAGACAGGAGAATCGCTTGAGCCTGGGAGGAAGAGGGTGCAGTGAGCC AAGATCGTGCTACTGCACTCCAGTCTGGGTGAGAGAGTGAGACGCTGTCT CAAAAAAAAAAAAAAAAAAAGAAGAAGAGAAAAAAGAAGGGTCAGAGGTC AGGAAGGAGAACCTGGGGAGGGTGTGTGGGAAGAATGGAGAAATTCAGGC TGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCAAGGC AGGCGGATCACGTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGT GAAACCCCCGTCTCTACTAAAAGTACAAAATTGAGCTGGGCATTATGGCA GGCACCTGTAATCCCAGCTACCTGAGAGGCTGAGGCAGGAGAATAACTGG AATCCGGGAGATAGATGTTGCAGTCAGCTGAGATTGCACCACTACACTCC AGCCTGGGTGACAAAGCAAGATTCTGTCTCGAAACAAAAAAAAAAAAGAG GGCCTCAGAGAGCCAGGGACCAGGGAACGATATGTCGCAGTGTTCTGAGG ACAGAGAGAGGGAAGAATGGGGAGGGGAAGGAGTGGCACATGGGGTTGAG CAGAGGAGAAAGTCAGAAAGGTGGCTTGGAGAAGCCAGCAGTCTGCGAGG CTGGGGAGGATGGAGAG	A A	exon_loss_variant exon_loss_variant	HIGH	HG01123.hp2 HG01123.hp2	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0001 a0010c0016t0001	a0010c0016t0001g0154 a0010c0016t0001g0154	1	344	0.0029	-4166	c.325 others(13): Show c.325+86_982+85del	SPDYE3	ENSG00000214300.7	transcript	ENST00000332397.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
KCNIP4_chr4_20723606_21953772	21079452	CTCAGTGT others(4158): Show CTCAGTGTGACCTGCCATCCTACACTTTTTACAAACTGCCCCACTTCTCA TTTTGCCAAACCAGATTGCCTTTCTCTTAATAGCTCCTTCTTTCTTGCCA CTGAACCTAAACTCATGTTCTGAGCAGTAGGCAAAATAATTAACAGACCC ACAAAGATGTTCTTAAGTCCCAGACCCTGTGAATATGTTATGTTACATAT CAAGGGGGAATTAAGGCTGTAAATGGAATTAAGGTTGCTAATCAGTTGAC TGGAATATAAAGAGATTATTCTGGATTATCCAAATCAGTTCAGTGTAACC ATAATGGTTCTTATAAGTGAAAAAGGGAGGCAGGAGAGTCAGAGTCCCAG AAGGATATGTGATACCAGGAAGCAGAGGTCAAAATGATGCAACTGCTAGA TTTGAACACGGAAGCACCCACAAGCCAAGTGATGGGGATGGCCTCTAGAA GCTGTGAAAGGCAAGGAAACAGACTCTCCTTCTAGAAAAGAATGCACATT GATGACATCTGATTTTAGCTTAGTGAAACCCATTTCATATTTCTGAACTG CAAAACTGAAAGATAGTAAATTTGTGCTGTTTTAAGCCACGAGGTTTGTG GCAATTTGTTGCAGCAGTAACAGGAAACAAATACATTCTGCAACTCATCT CCTGCATTTTCCCTGAGTGGCCATTTATAAATACATAGACTCTGACCCAG CCTGGCCAGAGATAAATCAGGCTCCTCCACCTCTCCAACTGCTAGCTCTG TGATCCCAGGCAAGTTATTAAATTTTTACATGACTATTTCCTCACCTATA ATATGGGGATTATCATGACACCATCCTTATAGGGATGAGTTAATAGATGC AAAGTCCTTTGGAAAAGTGGGCACATAACAAACACTATAGAAGTGTACGC TAATATTTTCATTATTATGCTTACCTCTACAAATTATTTTATAAATCAGT TCAAACGCCAATTCTTCTATTTCCTTTTGGAACAATAAGATCTTTCTTCC TTAAATTTATAGAGTACTTTACCTTAACAATATTTTATAGCATGTGTTCG TTATTATGCTTACCTTTACAAATTATTTTATAAATCAGTTCAAATGCCAA TTCTTCTATTTCCTTTTTGAACAATAAATTTACAGAGTACTTTACCTTAA CAATGTTTTATAGCATGTGATATTTTAATTCTTATTTAATCACTTTCATA CATATTGAATCCTCTCTCCTAAGATATAAGATCTTGTAAAAATTAGTGAT ATGCATTTTATATATTTACTTTATTTATTCTAATTTTGTTATTCCTATAC TGTCTAGGCCAGTGTTTTGCATATCATAGGTGTTCAATAAACATATTTGA ACTACCAATGGTGTTTTCCACTTGTGCTAATTTCAAGAAACAAACAAAAT CATTCACTATTCAATGGGCAACACTCTACAGAAAGAATTAATAAAACAGA AGAATGAATAAAAACCCGAAGAGTAGCATGAAGTCTATAGAAAATATCCT CCACAAGTATGTAGTGGGATTCAGATTCTTTTTTTCACTTTCACTCTAGA TGTTCAACTTTAATTTAAATAACATGTTAGATCAAGTGTGCTTTTATAAA TTAGTTATTAGCCCATAAACTGTCTTATATAGTCTGCTCTGAAGGTTATC ACTTTAAGAGGCATGATATACTGTGGGGACTGAATTTTAGTACTGTGCAA AGACCTGATTGGAATGAACATTTCTGAACTTCTAGAGCCTCTCCAGTAAG AATGCAGTTGTTGCTGTGAAATTGACTTTAAAAGAAGCTTCTGATGACAA GGCCTAGCTGATTATTGTTTCAGAGATGAAGTGAAAAAAGAGCAAACATA GTTACCATAGAAATAAATGTATTAAGTTCTAAAATTAACATTCTTATTAG TGATTATGCCCATATTTTTTTGATACATCTACAGTTAATCTCAAAACTTT CATCATGGGTATGGGGTTATACTTCCTGGTATGACCCAAGATGTGAAACT CAATTAAGGTCAAATGTCATTAACTTCGGTAGTATGTTTTAAAATTAACC TCAAAACGGCCCCAAATTTTGTTAAAACTATAGAAGAAGAAATTATTTAT TAAGAAGGTAAGAAAAGTAATTCTTCTAAACTATGCAATCATTTATTTAT TGGCTCTGATAAGAATAACATTTCAAATGGTTGTGTTTTCTGTCAGTAAT TTGAAGTTCTAGTATAATATTTTTATTTAATTACATGATTACAAAACAAG TCTTTACTTACATCATATGCATTATATGCCAAATTAATTCTCCTTTGAAA AGGCCAATTGCTGATAAGAGCAATGAATTCTATTGAATAGCTCACTGAAT TCTGAGAGAGTAATTAAGAAATTTTTATATACACACAGAAACACATGTGG CTCACACATTAAGATGTAGACGACAATCTTTCAAGATACCATCTAACAAA TGGAGGAAATATGTTTTCAGCTTGCAAACTTCAAAGCTCTATGTCCAATA ATGAGATAAATCTTCATTTCTGATGGTACTAATCCAACACTGAAAAATTA ATTCTCCTTTGAAAAGGCTAATTGCTGATGATTTCGCAGAAAAGAGGTCT ATTCTTTTTAGTGGATATGAATTGATCCTGCTAATGCAGAACCTGACTTT TTCAGATTCCTTTAGCCTTTAGTATGAGTGAATTTTTAAAATTTCTCTTT TGTTGTGTTAGAAATAAATATAATGATTTTTTCTCATGCTGATTTTTAAG AGTTTAAAGGAAAACAACAGCTGATAGCTCATTAAGGCTCATGAGACACC ACTAAGCATATACAACTCCCATTTTGAGGCTGCATAAGCCAAACACTTTC AATTCCACTAGAAGGTGTCATTAGAAGTACTTAAGCAAAGAAAGCTACTA GGAGCAAGAACACCCCAGAGAATTTCTGTAAAGACTTTGATGCACCCATT GTCCCATAGTTTAAAATGTTGTATCACTCAAGCAGCAACCTCATTAACAG ATCATTTAGATTATCATGAGTTATGATGAACTCAAGCCTCTGTAGTATTT TCTTCCCAACAATTTGCTTTATTACAGCAATATAACAGACATCTGCCTTA AAGAGAAGTCTTACTTTCCACTCTATTGGATGCCACTGAAATTTACAGTG TCTGGGGCAGGAGGAAGAAGTAATAAAGTCTTACAGGGAAAAAAAAAACT TGTTACCTAAGGGCAATATCAGAAATGATGAGAAATGAGATAAGCCAGTA GGACTAATTCAACTAGAACTGAAGAAGCTGGCTCTGAATCTGATTTGCTC TCCTCCAAAAGAAAAATATGCTCATGATAACAATAACTAATGTGTACTTA ATACTTTTGAGGAAAATGACTATGTGGTGCTCCAAACTATGTGCAACATT CTGTGCCAGGTTATTCTATCTATCTATCTATCTATCTATCTATCTATCTA TCTATCTATCTAAAATTTATGTATACACAGAAATATAACATTTTACATAA GTAGTAAAGTAACTCTGTATTTTAGGTCTTATCATTGCCATGTTAAATAT ATTTCCAGAGTAATATAGTCAGTAAGTTGTTTAAGTGGGGTTTGGATGCA GGTCTCTTTGGTTTCAAAGGCTGCAGTCTTTACCCCTCATCATATTGCCT TGCTTTTGTTGCCTTCTTCACTTCTTTTGTCTCTGTTTCTTATTCAGACA AAGGTGGGAATTGACTGTAGGTGAAGACTCTTCTTTGGCTAATTGGTTTA TTTTATCCCTAAGGAAGATTCCTATTCTTGCTTCTGGTCTCTCTTCTCCC TCTCTCTCTTCCTCTCTCTTTTTTTTCTCTCCCTCTTTCCTTCCCCCTCC TCAGAAAATGACTAGACTTTACCTTTGCAATAGACTAAATCATAGCCCCT AAAAGAGATATGCCTAGGTACTAATCCCTGGGAGCTTATCCATAAAAAAT GTATTTGCACACCTGATGAAATTAAGGATCTTCAAAGGAGGTTCTTGCAT TGGATTATCCAAGTGGACCCTAGGTGAAGTCACATGTATCCCTTTAAAAG GGAGGGAGATCTCTGTCTCCCTCTGGGCTTCTCAGTCTAGAGGGAGGCAG ATACACACAAGAGAAGAGGCAATGAGATCACTGAGTCAGAGATTGGAGTT AGGCATCCATAAACCA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0026	1	80	0.0125	-4165	c.62- others(19): Show c.62-200908_62-196744del	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
GLIS1_chr1_53501239_53744164	53582611	GTGTTCTT others(4153): Show GTGTTCTTCAGAATCTGGAAGGCAACACATGTAAGTGCTCACCGCAGGTG GTACTAGCACACAGGTGGTACTCAGCAGACTGTGGTGTCTAGCAGGCAGG ACACTGGCTGGGAGTGAGGGATGCTGAGCTTGCCTCTTTCGCTCTGCAAT TTCCAGTGAGCCACATCCTCTCTATGGGCCTCAGTTTCCACATCTGCAAA CAGCAAATGTGAAGATCCAGGCAGTCGGCCTTGTGGCCTAGCTGAGGCAC CTTCTGTTGTCCTGGACTCCTGTGGGAAGGAGGGAGGGGAGCAGGTAGAA GGGGTACTGGGGATCTTACGGAAGTATCTGAAGCACTCATTTTTTCTGCC TGTGGCCAGACTCTCTTAAGCTCCAATCACTGTCATGTTCACTGGCAACT CAGCCTGATCAGAAATGACCCCGTAAGCCAAACTGCCTCCCAAAACTTGG GGTTCAGCAGATGCTGGGAAGAATACACTCACATTTAAATGTGGTAGGCA ACTAGGGACAGCGGGAAGATCATGGGGCAGAGCCAGGACCTGAGCTGGAG GCGCAGATGTAACACTGGCCAAGTAGCTTCCACTCTGTGCATTTCAGTGA CCCCACTGTGAAACAGCAATCCAGCCACCGCCCTGTGCCTTCCCTGAGCA CAGGATCTAGCCATCAAAACTCTGCAGCCCAGGGCCCTGCCCAGGGCCTG ACTGTTCCCCAGGAAGATACAAATGTTACTTTTGGCTTGAAAACACTATG GCTTGGGGATCTGATAAAACAAAGGGGCTGCTAGATGGTTCATCAGTTGA ACAGACACTCACTGGGTGCTCTGTGCCCAGCAGATGTCCCAGTCTTGCCC CCCAGAATGCAGAGTCCTGCAGAGACCTCCAGTCCCATTGCCCCATCCCC AGGAAACGTACCGCCCAGTACCACATTGTCCATCTGCTGTCTGAGCTTAT GTCCCAACATGGCAGGACCTATCAAGGGAAGTGGCTATACAGAGAGGGCA AGAGCAGGCTGCCTTCTAACAGGAGGCCACCTCCCAGCCATTTGGAAATT GCTACTTGCAAGGCAACAGAATCTCAGTGACAGATTCTCATTTTATCATT ACCCACGTCACAAGAATGTATTGCGAGGAGGAGGGGCCGGGAAAGTCGGT GCCTTAATCACTTACAGACCACGGAGGCCCCAGTCCTGGCAGTGGAAGAA GATTTATTGTGGGGACGGGTGGAAAACAAAGAACAGTTGTGCAAACTTTA CGGAACCACATTATGGGATATGCTTTTCCCATTTCCCACTGGCAAATGTG CTGGAGGCAGTTTCCGAAGGAGGACCCAGCTCCATTACCCAAACATGTGC AGACACTGTGCCCCAGCACGACACACTAGGCTGACCTGGCCTGGCCCACG GGTGCCCAGGCGTTGGCAAGACTGGGTGCATGGTCCGAGGCCGGTGGATC TGTGGAAGAAGGGCTCCAGATTTGAGTGGACTGCCCTTCCTGAGCCCCAG TGTCCTCATCTGCCAATTGCCATGTACCCACCACACTAGCAACACTAAAT GTTACCTCTGCCCATATCACAGTCCTGTGTACAACTCTTCTGAGACTCTC TCCACTCCCTCGGGGCACAGTCCAATTTCCTTACACTAGACCTTGAGGCC CTTTGAGGCTCAATTCCGATGTTTCTGCCCTCAGCCCCCATGCAGGTAAT TCACTTCAAGACCAAAAGGACACCTATGTTCCCCACAAGGTCAAGACTAT CACATGTCAAAACCTTCACGTGTGCTGTTTCCTTTCCCTGCAATGGGTCT TCTCATGGTCTACACCTGGAAAGTGCCCACCCACCTGTCAGAGCCCAGCT CTCATGACATCCTGAGGAAATCCTTCTCCCTCCTCTGTGTCAGAGGCATT TGGTTAATTCATTTGCCACCAGACCATTCTTCCTTTGACACTGTACTCCT TGCTTCTAGCACTGAACTTGGCACAAGGGGGTGTCAAGCTGTGTTGAAAG GTTGGTGGCCAGGTGGGGGTGGACAATACAGATTAGCCCAAGGCTGTCTC CCAAGGGAAGGGCACAGTTAAGGAAGGACTCTAAAGAAGGGCCTCTTCTC CTCAGCATCTCGGTCTTGGTGTGTCCAAGGTGACCGAGACCTTAGGGGTT ACCTGGCCCATCCCCCATTTAACAGACGAGAACAGGATGCTGAGGTCTGC AGCTGCAGCCATCCAAGTGAGCACACAAAGCCAGCTCTGGCAACCCCATC TGTTATCCAGCAGAGACAGAGTCTATAAATTCTCAGTTACGAAGTTTGCC ATTTCCAGGATGGCCCTCTCAGAAAACATGGTCTGGACACCTTCTTAAAG TCACTGTTGATTTTATCTGACATTCTCACTCCAGTAAGACAATCATTTCA ATTCCATTTACATTAAGTTCAAAAGCTTTTTCCTTTATTAGTTTAAATTC AATTCAAATAGTTGTGTTTTTTATCCTTAATTTTTTTTCATATTCCATAA AGCAATGTTGGGCTCACAAAACTTGGCCAGCCCTCCTGTTCCCTCAAATT TGGTGCTCCTGGGAATTCTCTTCCCTGTGAGAGCTTGGGACTAACGACTT CAAAAAATGGGGAGGTGGGGGAAGGAACAAGGGCTCCTGTTTTCAAGCAT CTAATATGCGCCAGGCACGAGGTAAGTGCTACACATATATGATCTCATCT AGTTCTCACAACACTCTCCCCTCCACGCAGACAGGAAACCAAGGCTCAGA GATGCCACGTGACTTGTCTTGAGGTCTCACAGCTGGTTAAGGGCAGAGTA AGGGATTTGAACCTTAGTGGTTGTCCTGTGTGTTTAGCCATTGGTCCACC CTGGCTCAGAATTTAAGTAAGAAGGGAAAGGGGTGGGGGGTCAGGGATGG AGATAAGTAGAAATGGGGGATGGGGAATGGGGGTGAAACAGGGCAGGGTG GGGATGGAGGTGGAAGTGAGGTGGGGGTGGGCTGTGGAGCAGGGAAGGAG GGCATCCAGCAAAGCTGCAGGCTGAGGCCTCAAGACCAGGAACTACATTT GGGGAGCACATAGCCAACCTGTTCCATTCCTGATGGGGAATCTAACCGGG AGGAACACACCTGTGAAAGTGCCCTGTCTGTACTCAGAGGCCTGGCTGCA GGCAGGAGTACTGGAATGGGAGTCAGAGACTCAGCTTCAGCCCAGCAGCC CTGACTAGGGCAACAGTGCCCCTCTGCAGAGCACTCTGCAGGTACAGAGC ACAGCCCCTCCACCCCCTACAGAAACTTCTGGGGTGAGCATCACAGCTCC CATTTTACAGATGCAAAAACAGACTTGGGAGTGAAGTGTCTTGTCCAAGG CTGCATGGCTAGTGAGCAGCAGAGCTGGGATGAGTCTCCAACTCCATCTA TCTCCAGTCCCTCTTGTCCTTCCCCAGGCAAGTTATTTCCATCTGGGGAC TCAGTCTCCCCTCTGCACAGTGGCTGGTGGGGGACGAGGCTCTGACCTAA TTGCAAGGCCAGAGAACTGGAAGGACACTGGCTTCCAGGAAGCCTCTCCT TGTTAAGCCCAAGCCCCCTGGGTTTGCTTTTCCAAAACAGGGGAGGAAGA AAAGCATCCCAATGTAAGCCAAGATCTGTGGAGCTAAACCTCGGGCTCAA GAGAAGAAAGGACATTGGCATCTGTTGAGCCCCTACTAAACACTGTCTAC TGCAGACTCTGACTGCTAGGCACTATCCCATTTCACAGTGCAGGAAACTG AGGCTCAGCACAGCCAAGCGACGCATCCAAGGTCACAGAGCCAGCCCATG GCAGAGCTGGGACTTCCAACAGCCTTTTCTGTTTCTTTGGGGACATTCGT GACTGAACAGCCACTATCCATTTTAGACTTTCCCTTTTCTCTTTCGCAAA TGCAAACTGTCCAGAACGGCCAGGACCATTCTGATATACTTACTGTGTGC CATTGTCTAGTTTCTCATCAAAGCCTCACAACAGTCCTATTACCCCAATT TCATAGGTAAGAAAACCGAGGCTTATAGAAGTCAAGCTATACTTGTACAC AATCACAGGCTGAGGGGTGGCAAAGCTAGGTTTCAAATTCAGGCTTTCTT GCAGAAAAACTTCAAGCACCAGATTAGGGGGTAGACGTGACAGTCTTTAA AGTCCCACCAA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0007 a0006c0007t0007	a0006c0007t0007g0032 a0006c0007t0007g0032	1	236	0.0042	-4160	c.132 others(20): Show c.1320+7337_1320+11496del	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	4/10			chr1	TogoVar
AGAP1_chr2_235489043_236136793	235914066	GGTCTATT others(4152): Show GGTCTATTATGTCATCTAATTGGTCAGAAATAAAACTCCTAATTTTTGTG TTTTCTATTATTCAGCCATCTTGCTGAACTCTTGTTAGTTGGAATAGCTA CTGGATGTTTCTGTTGATTCTCTAGCACACAGTCATAATGCATTCCATAT TTCAAATACTATAATGCCTAACTGTGTGCCACCAGTTTACTGATACAGAG ACTGGATTGTGTTGCCTCCTGTGCCATTCGTCTCCATTGTTACTGAGTCT GCTGTATGCCCACCCTTGATTAATGCTCTGGATATTGGGGTGGGGGGAGG ACAAGACGTCTCTCCAGGAGCCTTACACTCAAGTGGGGGTGGAGGAGTCC AAAGATAAACACACAAGTAAGATCATTGTAAGGAATGATAAGTGCTGAAG GGCCATATGGGGCAATTGAATAGAAAATACCTGGAGGGGCTCGGGGGTGG GGTATTCCTAGCATTTGGGAAGTGATTTGCCTGTATTGAAATAGTGACTA CATTTCACACTTTAAAATGCTGGAAATGTGGTCATCTTCATGTCAGTTTT TGCCATGGGCTTGGGAGAGAGGAAGAAACACGCACTGTCAGAGCAGCTGC CTTGTGCACTGCTGATGACTGGGCTCAGGCCACCCTCTGGGGCTCATGCA TTGAGGAGAGCAGAGGAGCTGCAATGGTGATGGGGTGGCTCTGGGTTCCT TGTGGCGGTCGTGGAGTTCAGGAGTGGGCTGGGGCACAGCAGCAGGCTGT GCGACGAAAGCAAGGAGAGCTGGCCAGTGTTGTCCCTGCCACCAACACCC CCAGGAGAGCATGCATCGGAACAGGCAGCATGCCTAGGGAGAGCAGAACC TTTTGATGTGGATGCTGGTGCTCAAAAAAGGGAAACAGAGATGATTGTGA AACTCAAACATCCTCAGTCTCAGAAGAAGAGAAAGAAATGGAGAGGCAAG GCAGCCCTGACCGTAGGTGGTATGAAGTGCACCGGCCAGCTCACAGCCCC CCACACGGTAGGTCTAAATGAAACCCGCCAGTCATTATGGGCCATACACC TGCTCAGAGCCCACAACCAGCCTTCTGGTTGGCCAAGGCTGCAGAGAAAA CCCCTTCATCTGCCTCATCAACCCACATGCTCTTATTCATAGATAATGGA CAACGAAGGTGTTTGTGGGAACCAACAGTAAAATGTGAAGGATAACTGAT CTTAGTAAGAGTGACATTTTAGTGAAAGGGAATTTAAAAGGAAATTATAA CTCCTATCAACAGAAGGATTTAATACGTTAGTTATTAATGATACTCATAA AATGAGGCAAACAGAGAGCACGTGTTTGGCCCAGCGCAGTGGCTCATGCC TGTAATCCCAGCACTTTGAGAGGCTGAGGCAGGCAGATCCCCTGAGCCCA AGAGTTCAAGACCGATTAATCTAGGCAACATGGTGAAACCCTGTCTTTAC AAAAAATGCAAAAATTTAGCTGGGCATAGTGGCGAGTGCCTGTGGTCCCA GGGGAGACTGAGGTGGGAGAATAGCTTGAGCCCAAGAGGTCAAGGCTGCA GTGAGCCATGATCATGCCACTGTACTCCAGCCTGGGCAACAGAGTGAGGC CTGTGTCAAAAAAATAAAGAGTATGTGAAAATACTATAGGAGAAAAAGTT TTATGAATAAAGATTGTGAAAATAAAAAATTCATTAGATAAATACTGTAA AGAACGTGGCTAAAGACATGTTGGTAGTCAAAGATGTAACAGAAGAATAT ATGCTAGAAGCAAGTAAGGATATCTGAAGAGTCAAGTATCAAGTTGGATG GGAGAGGAGGCTCTGCAAAAATACAAATAAAATCTTAAAACACACCAAAA ATAGGAGAACAACAAGGTTACCTACAAAAGAAGAGAAATCTGACTGTAGA CTTCTCAAGAGCAACATGCATTCTTAAATATAATGGAAATATTCCCTCCT AAGGACAAATAATTCTGAACCTAGAAGCCTATGCAAAGACGACTACTAAT CAAATGAAGATAGAAAAAAAAGACATCTTTAGACAACCTACAGGGTTATA CAACATCTCTGTCTTAAAGGGTTTTGAAAAAATTACTGAAGGGTCTACTC CAGAAAAAAAAAGAAGAATCCAAAAGATATTCAGGCCTGGTTAAACCTTC CCTTCCTCATTCAAGGTCACTGGCTTCTCAAGATGTGCATGGCCATTATC CACTTCCATTCTTTTGGCCTGGAACTTACATAGTCTTAAGTTGCCATTCT AATGAGGATCCACCAGAAGCCACATTTTGGAGAATCTTCCCAACTTGAAT TTCAGGTATAGGTCCAGAGAAGGAGGTAAAACGTCAAGGTATTTTCTGAC ATGAATGTTTGGCCAGCCTAGTTTGGTGAAGCTGTATCCACATGTAACAA TGCAGAGTTGTATTAGCTTCCACAGTTATTTTCACATTTAAGTAGAGAGC AGGAAAACATAATGTCCAAGAGCAAGGGTTTCGGAGTCCAAATCACTGAA TAGAATCCCATTTCTCCTGTCTCAGACCCTTCTGAAGTTGTCTCACTAAA CCCCAGCTTCCTTGTTTTTAAAATGGGGAAATGATGTCCACCTCTGTTCT ATGGAGAAGAACACACGGCATTCCTTTGAAAAGCTTGGCCGATGCTGACT TCACAGAATTACATCATTAATTCATCATCATGGTTATGCCAAAAGCAAGG AAGAGGGGAAAGAAATTATGTTCTTGAATTAATTTTTCAAATACAATAAA GCATTGACATAGCCTTTGAGTGGACATAATGGACATAGGGCTTAGACTTC ACAAACCCATGCTCCCCAACAGACAGCATCCCACTATCATGGCAGCAAGG GGGCAGACAGAAGAAATGCTCTTCTGGACTTTCATGGATGTCCATGGAGC TGTCTGCTCCAGTTCTGTGTCCTGTGGTCACTTTATTCTGTAACTCCTGG TTGTGACATTTTTGTTCTAGGATGACAGATACCTTCTTGTCTCTAAAGTG TGTCTTTGTTGGGTTTTTGCAACTATGGATATGTTTTTATCCTAACCAGA TTGATGCTTAGACCTTTGTCAAAGGAATCCTTTCCCCTTCTCCTCTACAT CCCCCCCTTCCCTACTTGAGGCCCCCAGCGGTTTCGAAATATTAAAGCCT TCAGGAGGGTTGAAGCTGATTTTCCAGGGGAGGTGGGGGAGGCGGGGACA GCAAATGTGTTTTGAGTATTGAACTGCCGTTGACATCTAAAGTCTCAACC ATGCTGTTTTCTCCACACTTCAGCAATCAGGACATCCAGCAAACCCATAA AAAACCAAACTAATAGCATGAATATTCAGTGACCTAGAATACTAATTATT GTCATGAATATTAATGTGATCGGACTTGCTCTTTCCTCTCCTCTTTCTCT CTCGTCCTCTTTCTCCCTCTCTCCCTCTCTTTTTTTCCACTTAGCCGGCT CTAAAGATGGGTCATAATGAGAGCATTTAAGAGGGAGCGCTCTCCGCCGT GACAGGGACCGGGGTAATAAGGAGAGCTTGATTAACGTGGTGCACTTGGG GGAGAGATGAGAGGCTTCACGTGGTCCTGTTCGGGGGAGGCAATGAGGCA CCGGCGGCTCTGTTGCTGCTCCCGGAGATTAATGAGGCCTAAGAGTGCAT TAGGAACAGTGACAAAGGTTTGATCTAATGGGCTCAGTCATTTTTCCTTT GAGTGACAGACGCACAGAAGTAATTGGCTGTGCAGAATGGCAGCTCATTG GCGGTACTTAAGGATACATTATCCCCGTTGTGTGGCCCGCAGAGGCTGTT TATCAAAACTGCTCACACTGCAGACGCGGAGTCGCGAAGCTGCTGTTTCA GTGGTAATAGCTATTAAAAAAAAATAACGTGACATCAAAACTAGACCCGT TGTTGTCTCATGGAAAGAAAGTTTTTCTTTGTTTAGTTTCAAACGGTCTA GAAAACATTATAATAACTCTGGAGTCCGGAGTCTGTTGTGGGCCCTGGAT GAGCAGTGTCAGTCCACACCTGTCCCCTGCCGGCATGCGGTGTGGCCAAG GCTTGGTGGAACACAGATCCTTGCTTCCCACTCATGTCGACCAAGGTCAC TCGGGAGTTTTCCACACATTGGATCTTGGTTACAACATATAAATTGGAAG CTTCTGCTAA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0076 a0001c0002t0014g0076	1	98	0.0102	-4159	c.132 others(19): Show c.1324+5163_1324+9321del	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
HMCN2_chr9_130260760_130439123	130268363	CGAGTGAC others(4151): Show CGAGTGACACCCCCAGGTTCAGACGTCGGGGAGACTTCAGCACCATGGAG CCCTTGATCTGTGTAGAGCCCAGGGAGGCTCACAGTGTAAAGGGGCATGG TTCATTCCACGGGGCTGGTAGCCCTCTGGGACAGGCCAGGTGGGGAGTAG AAAGTGACATGTGGTGGCTCAGGTGCCAACTCCTGGCCATGGGCCAGTAA GCAAGGAAGGGGGCTAAGGAAAGACCCCCCCCTGAGGAAGCAGCCTGTGA GTAGGGCCTGAAGAACATCAGTGAATGTTTACTGGGTTTTGGCCGTTTGC CTGGCAGATGCCAGGTGCTGGGAACACAGCAGGGAGAGAGGACTCCCTGG GGCATGTGGAGCTGGCTGGGTAAGGACCGGGGGATGGACAGGAGGGCTGA TGTGGAGGGACAGGTGTGTGTGGGAGCTGGGTGTGCACGGGAGGAGTGGA GCGGGAAAGTGGGGAAGGGCAAGATTGGACACAGCCGTGAGTGCAGGGCC GATTGATGCCTTGGCGGACTTGGATTTCCTTTTCCTTCTATGGGCTGTGA ACAGCCACCGAGGGCTTCTGAGCAGCAGTTTGGAACTGTGATTTAGGCCT GGCTGTGCCTTTTGAATCAGCAAATAGAATCCCCTTTGGTGGAAGAGGAA CTTGAGAAACGGGTTGTAGCTGTTTGTTCCAGCTCCCAGAGCTGCACAGC GGGAGGGTTTTCTTAAAGTAAGCCCCTCTCCTAAACCCCAAGAGGCGGGT GCGGGGCAAATCGTGGCGGTTCTAGACTGTTCCTGCTTGGAGACAAACTA AGATCCGTGCTTCGGAAATTTTACAGTTTCTAAATTAAAAATTGTATGTT CCCAGAGTAGAAAAGTTAGAAATTTGCTAATCATTGCAAAAGAGCCCTGG TTCCTTTTTTTTTTTTTTTTTTTTGAAATTAGTAGTAGAAACCAAGATCT AGTGCTAAAATTTAGGTTGTTTTCAGTGTTTCTATATTAAAATGTTACTA AGAAACTCTCTTGTAAAAATCTTTGTCTGCATCTTTGATTGGTTTTTACG TAGGCTTAAGTTCCTTGAAGTGGAATTCTAGGCCATTTTTAACACACCGA GTGGGGGGACGACTCTTCAGGTTGTTTTCCAGAATGTTTCAGGAGATTGA ACTTCCACCAGAACTGTTTCAGGGGCCCGTTTCAGCACAGCCACCCCCAA CACTGGAAATTAATATAAAAACCTTTCTTTTCTAATTCAAAAATGGAAAA TGATATCTTCTTGTTTCAATTGCTAGTGAGGTTCAATATGTCTTTCAAGC GTTCACTAGATATTTTTGGTATGAATTTCTTATTTTGTAAACTGTCAGTT TCTTTGCAAATTTTTTCATGGGAGTTTTAGTGCTTTTATTTTTAGTTGGA ATGAGGACCTTATGTTGATGATGTTATCTGTTTTTTTTTTTGTTGTTGTT TGTTTGTTTGTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCCAGGTTCAAG TGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGATGCGTGCC ACCACGTCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCAT GTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAAGTGATCCACTCACCTC AGCCTCCCAAAATGCTGGGATTACAGGCATGAGCTACCATGCCTGGCCTT AACTGTTTCTTTTTTTTTTTAAGTGTACTTAGTATTTTTCCTGGTTGCTT GTCTTTTAGTATTTGTAATTCTTAGAAGTTTTGAAGTTTTAAATGTTTAT GTAGAGAAATCTATTGTTTTTTTTCTTTGTGATTTCTTCACTTAGGTGCT TATAAAGGTTTTTTTTGTTTGTTTGTTTGTTTGTTTTTTTTTTTCCCTAT CACAAAACCAGTTAGGCAGATTTTCTAGGGTTTGTGTATGTGTGTGTTTT GTTTTATTTTCCTCTCTTCACATTTAATTCTTCAACTTGAAATTTTAAAA ATTGGTAGGCTGGGCTCAGTGGCTCACACTTGTAATGCCAGTACTTTGGG AGGCTGGGGTGTGAGGATTGCTTGAGCCCAGGAGGTCAAGGTTGCAGGGA GCTATGATTGTGCCACTGCCCTCCAGCCTGGGCGACAGAGCAAGACCCTG TCTCAAAAAGAAAACAACAACAACAAAAAGAAAAACAGAAAATCTCAATA AAGTGTGGACTTGGGTTAATAATTATGTATCAATATTTATTTATTAGTTG TGATAAATGTAGCATAGTAATGTAAGATGTTAATAACATCAGCCTTCTGA GTAGCTGGGACTACAGGTGCACACCACCACACCTGGCTAACTTTTTGTAG AGATGGGGTCTTGCTATGTTGCCTAGGCCGATGTCAAACTCCTGGCCTCA AGTGGTCTTCCTGCCTCTGCCTCCCAAAGCAGGGGAATTACATACATGAG CCACGGTGCCCAGCCTTCCTCAGTTTTTCTTTAATGCCCTTTTTCTGCTC CAGGATCCCATCCAGGATACATTAATTGTGTCTTCTTCAGCTCCTCAGGT TGTGAGTTTCTCAGGCTTACTTTCGTTTTGGTGAAATTGACAGTTTTGAG GAATACTGGTCAGCTCTTTTCCCTCAGTCATTATTTGTCTAATGTTTTTT TTCCAGTTAGACTGGGTAATGTTTTGGGAGGAAGACCCAGCATTAAAATA CCATTCTCATCGTCTCATATCAAGAGCACACGCTATCACGGTGATGGAAC GCTGTTGATGTTAAGCTTGATTGCCTGACTCGGATAGTATTTTTCAGATT TCTCCACTATAGAGTTACTCTTTTTCCCCTCTCTCTTTCCATACTGGGCT CTCTGGAAGAGAGTCACTTACTGTGTGCAGCCCACGTTTAAAAAGCGGGG AGCCATGATCCACGTCCTTGGTGGGGGAGTATCTATCTACATGGATTATT TGGAATTATTCTGCATGAGAGTTGTCTCTTCTGCTCCATTTATTAATTAA TTCAATCACTTGTCTACATCAGCATAGAATCATGGCTAGCTATTTTATAC TTTGTGTTATGATCCTAAACCACTTTATTTTGCTCCTCAAATGTTTCTGA CTGTGGTCATCGGGAGCTCGTTCAGTTGGTTTCTGTGTCCCTTGGACACC CCTCTTGTTGTGCACGTGTGTTTTTTGTTTTTGTTTTTGTTTTCGTTTTT CCCACATTCCTACTTTTTGGCACTGGTAGTGGCTCCAGGCTCATCTTAGG TATTTCCTGCCTCAGTCCTTGAATTCGCTATTTCTCCAAGGAGCCCTGCT TCCTGTGATTGGAAACCAGGATATCCGTGCTAAGTGTGTTTGTTGGTACT GAGGTGCTGTTACTTCTAAAACCTCCCTTAGCTGACAGGGCAAGGAGTTG TATGTTGTATATATAACCTGTGTTTGTACTTGTATCTATACATAGTTTTA TATGTAATCATCCGTGTCTATATTAAGCTAAACATGAGTTCATGCTGATA TCTTCAACTCTAATTTATATTCGATATTGGATTAGATGTATTAGGTATAT GGAGAGTCAAACCTCTTCCTGTTCCTTATCTAGAACCTCCACGTCTAACA GTCAGAAATCTGTCTCCTGCCACCCACCATCCCTTTACTTTACTGTTTAG TTCCAGTATACATTTAAAGTGGTTTCAGAATTGTTGAGTGGGACCCCCAC GGGAAACAGCTTTATTAACTAGAATACAGTTCTTTTGCTTTTAGTCTTAA CAGACTCCATTCATTTCCAAAATTACTTAGGCCAACACCTTCTTCAGCTT CTTCTTCTTTTTTAAAAAAAATAAATTTTTTTGTTTTTGTTTTTTTGAGA TGGAATCTCACCTTGTCTCCCAGGCTGGAATACAGTGGCGCAATCTTGGC CCACTGCAACCTCCACCTCCTGGGTTTAAGGAATTCTCCTGCCTCAGCCT TCTTAGTAGCTGGGATTACAGATGTGTGCCACCATGCCTAGCTAATTTTT GTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTTGA ACTCCTGACCTCAAAGGATCCTCCTGCCTTGGCCTCCCAAAGTCCTGGGA TTACAGGTG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01257.hp1 HG01516.hp1 others(7): Show HG00140.hp1 HG01257.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG02698.hp2 HG04228.hp2 NA18945.hp2 NA18954.hp1 NA18998.hp2	a0002 a0009 a0011 others(5): Show a0002 a0009 a0011 a0031 a0164 a0167 a0169 a0175	a0002c0005 a0002c0171 a0009c0198 others(6): Show a0002c0005 a0002c0171 a0009c0198 a0011c0197 a0031c0025 a0164c0189 a0167c0185 a0169c0191 a0175c0206	a0002c0005t0002 a0002c0171t0002 a0009c0198t0002 others(6): Show a0002c0005t0002 a0002c0171t0002 a0009c0198t0002 a0011c0197t0002 a0031c0025t0002 a0164c0189t0002 a0167c0185t0002 a0169c0191t0002 a0175c0206t0002	a0002c0005t0002g0193 a0002c0171t0002g0189 a0009c0198t0002g0194 others(7): Show a0002c0005t0002g0193 a0002c0171t0002g0189 a0009c0198t0002g0194 a0011c0197t0002g0195 a0031c0025t0002g0190 a0031c0025t0002g0191 a0164c0189t0002g0198 a0167c0185t0002g0192 a0169c0191t0002g0196 a0175c0206t0002g0197	10	258	0.0388	-4158	c.259 others(17): Show c.259+2227_259+6384del	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	1/97			chr9	TogoVar
BTBD9_chr6_38163451_38644929	38431897	GGGTCTTG others(4146): Show GGGTCTTGCTATGGGTTGAATGTGTCCCTCAGAATTCATGTGTTGGAAAT CTGGTACCTGGTCCTGGTATGGTGGTTTTGGGAGGTGAGGCCTTTAAGAG GTGATTAGATCTTTAAGAGGGACTAATGTTGCTCTTTCAGATGAATTCTG GTGGAAGTAAGTGAATTCTTCCTCTCACGGGACTGGATTAGCTACCTCAA GAGTAGGTTGTTTTGAGGGAAGGCTATCATGTTTTGTCTCTTTTGCACAA GCTTTCTTGCCCTTCTGCTTTTCACCATGTTATGATGTGGTAAAAAAGCC CTTGCCAGAAGCTGCCACCATGCCCTTGGATTTCCCAGCCTCCAGCGCTG TGAGCCAAATATAGTTCTGAAACTGCCTTTGCAAAGATCATGACAGTGAG AGAAATCTCGCATGGCTGACTTCATCTTGCCTCTAGCCTCACAGGCTGAC TGTCCTCACTCATTCCTGAGCGGGAGGAATTTGGAATTAAGTATGATAAC AGTCCCTCCCTAAAACATCCCCTCCTCATTTGGGGCTGAGACACCATTTG TAAGACTAATGAGAGGCCACAAGATTGGGATTATGGGAGGGTCCTGAATT CTGCTAAAATGTAGGCATAGTTTCCATAATCCCCTTACTGCTCAGAATCA CATGGACAGAGGTCATAAGATTTGTGAATTCTCCAACTGATCCTATAGAT AACACCACTATTGTAGAACCTAAGATTGGTCTTCTGAGATGTTTTTCAGA CTTTTGCATTCTGGCAACCCACTGACCTCATGACTAATGACTTATGATTC AACAGGTCCTGTGGCACACACCCTCCCCACCTAGAGGCAGATTCAGTGTA TGAGGACCATTTTCCACACTCCTAAGATTACATCGCCAATCAGCAGCATC CATTCCCTAGTCCTGTGCCCACCAAACTATCCTTGAAAAACCTTAACTTC TGCTTTGAGTGATACCTCCAGTTCTGTTGCATGGCCAGCTTCACATTAAT AAAACTCTTTCTCTACTGCAATAGCACAGTCTCAGTGAATTGGTTTTCTC TGTGCAGCAGGTAGGAACAACCCACTGGGTGATTATATTTCTTTTCTTTA TAAATTACCCAGTCTCAGATATTCTGTTATAGCAACAGAAAACTGAATAA GATAGCCCTATATGATCAGGCTCTCAGCCACATCTTCAGCCTCACATACT ACCACTTGCACTAGCTCTTGCACAAACAGGCCTTCCTCTGTGCCTTGAGT ATACCAAGTTCATTCCATCTTTGAGGATTCTGCAAAGTTCTCCCTTTACT TGGAATGCTTCCCCTTGAGATTTTTACTTGCCTAATTCCTTCATGTCAGT TAAGATTCAGCTCAAACTTTACCTTCTATGATGATCCAACTCAAAAGTTT CTCATCCCTCTACTGTCAGGCCTCTGAGCCCTAACTAAGCCATCATATCC CCTGTGACCTGCACATATACATCCAGATGGCCTGAAGCAACTGAAGATCC ACAAAAGAAGTGAAAATAGCCTTAACTGATGACATTCCACCATTGTGATT TGTTCCTGCCCCACCTTAACTGAGCGATTAACCTTGTGAAATTCCTTCTC CTGGCTCAGAACCTCCCCAACTGAGCACCTTGTGACCCCCGCCCCTGCCT GCAAGAGAAAAACCCCCTTTGACTGTAATTTTCCACTACCCACCCAAATC CTATAAAACAGCCCCACCCCTATCTCCCTTTGCTGACTCCTTTTTTGGAC TCAGCCCGCCTGCACCCAGGTGAAATAAACAGCCTTGTTGCTCACACAAA GCCTGTTGGTGGTCTCTTCACATGGACACATGTGACATCTACCATGTTTT ATTTTCTTCTAGCATTCATTATATCTGAAATTGCCATGTTTATTTCACTG TTTATTTATTGTCTTCCCTTCCTCCACCATAATATGTAAGTTCCATAACA ACAGAGACCATGTCTGTTAAGTTCACTGCTGTATACTCATGACTGGAACA GTGCCTGGCACTCAATCGCTATTTGCTGAAAGTGAGGACTAAGCTCTGAT TTTTCTTATCCTGGCCAAATTCTTCTCTAAGGGGTCTGGCGAGTCATGCT CTACAAACCATATATTCTCAGCAGATGAGTTTTACTTAACACTATATATT CTGACTTACTTTCCATTCTGACTCTGGTATAGCATTATGTGACAAAGAAG AAAATCAAAATATTTTACCCCAAGTTTCTTTGCCATATTCTGAAATGGCC CTGCAAAAAATTTTGTGGGGCAAAATTTGCATCTGTAAAGAATCTCTATT AACATAGCTAGATCTTTTTCTTCCAGTTTCTCCCAACCCTGAAGAGATTA ACAGAGTCTAGCACCTTTTAAAGGTCTGAATAGAAAACATTCGTCATCTG TTGTCTCTAAGGTCAGCCACTATGAGACTTCAAAGGAACCTTGGTCTCCA CAATCTTTTATCTTAACCTGAATATTTCCTTTCTATTGATCCCAGGTCTT TAGACAAACTCAACCAGAAAATGTTTAAATGCACCTATAGCCTGAAACAC CTCCCAGCCCCGCTTTGAGTTGTCCCACCTTTCTGGACCAAACCATTGTA TTTCTTAAATGTATTTGATTGATGTCTCCTGCCTCCCTAAAATGTATAAA AAACCAAACTGCACCTCAACCACCTTGGGCACATGTTGTCAGGGTCTCCT GAGGGCTGTGTCACGGGCCAAGGTCACTCATATTTGGCTCAGAATAAATC TCTTCAAATATTTTACATAGTTTGACTCTTTTTGTCAACAAAAGACTGAA TTCAAATTCAAATAGCTTTCTCTTACACACTCTCCCTAGTAGTAGTCTAT CATGCAGGAAATTTGTGATTATGCATTAAATTTTGTTTTAGTTGTTTTAT ATAGACAGATATATGTATACTACAGTCCCGCAGTATCCACTGGAGATTGG TTTCAGGACCCCTGCAGATAACAAAATCTGCAGATGTTCAAGTCCCTTAT ATGAAATGGTGTATTTGGCCGGGCACAGTGGCTCACGTCTGTAATCCCAA CACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCGGGAGTTCGAGA CCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATT AGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGA AGCAGGAGAATAGCTTGAACCTGGAAGGCAGAGGTTGCAGTGAGCTGAGA TTGTACCACTGCACTCTAGCCTGGGCAACAGAGCAAGACTCTGTCTCGGG GGGTGGGGGGGAAGTTAATTGCTAATATTCCCTATGTTCCATATCCTCAG TAGACTAATGCAGGCTACTGTATCAGAATGACCAGGCTTAGGTTTATGGC GCAAGACCAGACTGGCCAATATGGTGAAACTCCATCTCTACTAAAAATAC AAAAATTAGCCCGGTGTGGTGGCGGTGCCTGTAATCCCAGCTGCTCAGGA GGCTAAGGCAGAGAATCGCTTGAACCTGGGAGGCACAGGTTGCAGTGAAA AAAAGAAAAAGAAAAGCATGGTTAAAGTTTTGTTCTTAAAAAAAGTCTAG AACACACTAGAAAAGAAAAAACAGCCAACTTTTGCACCAAAAAAACTCAC AGACCTACTTTTCTTTCTTTCCTTCTTTCCTTCCTTCTTTCTTTTCTTTT CCCTCCCTTCCTTCCTTCCCTCCCCCTCCCTCCCTTCCTCCCTCCCTCCT TCCTTCCTTCCTTTCTCTCTCTCTCTCTTTCTTTCTCTCTGAGACTGAGT CTCACTCTATCGCCCAGGCCGGAGTGCAGTGGCGTGATCTTGGCTCACTG CAACCTCCACCTTCTGGGTTCAAGCAATTCTCCGGCCTCAGCCTCCCGAG TAGCTGGGATTACAGGTGCCCGCCACTGCGCCCGGCTAATTTTTGTATTT TTAGTAGAGATGGAGTTTCATCATGTTGGCCAGGCTGGTCTCAAACTCCT GACCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAG GTATGAGCCACCTCACCCAGCCCAGAGAGTATACTGGTATAACCATAGGC CCAAGGGGACATTCAATATTAACATTCTAAGTACAAAGTTAACAATTTGG AGCA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp1 HG02055.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0114 a0001c0001t0136 a0001c0001t0114 a0001c0001t0136	a0001c0001t0114g0013 a0001c0001t0136g0142 a0001c0001t0114g0013 a0001c0001t0136g0142	2	224	0.0089	-4153	c.115 others(21): Show c.1155-90957_1155-86805del	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
RNF139_chr8_124469880_124493618	124480786	CCCCATCC others(4146): Show CCCCATCCTGAAGCTATCTAGGGGCCCCCAGGCACCAGTCATCTGATTAT TGTACAAAACAGTCATCACTCCAGAGATTCCAAGGATTTTAGAAGCTATG TCAGAAAATGGGACAAAGACCAAATATTAATATTTTTTTTATGATATCAC AGATGGGAAAGACAAACTAGAAAAACTTGCTTTAACTCTTCATTTAACAC CTCTCTGTAGGGTTTGGCTTTTTAAAATCCATGTTCATATATTTTTGATA AAAGCATACTTATTATAAGTTTAGTTTAAAAGCAAAAGTTTAATTTTGTG TTAATACTTAGAATACCAGGTTTTTTTTCAACCTAAAATGAGAATCCAAT AGAAATGTTTTCTTTATAATTTATCAAGTATACCAACAGATTAACAACAT TTCAAGACACTTTGTTGTAAACTTCATTGCGGAAGGCTCCCTTGGGAGTA AGGTAGTAGTAACATTTATTTCTGTGCTTTTCCATATTTATTCTGTCAGG TATTGAAATGTTTTTCCACAGGTTGCTTTTTGTTTTAGAGGTATTTCGGG TACTTGGAGAATTGTAAATATTATGTTTTGTACCCTGATTTTTAGTCATA AGTTTCCAAAAGAGGGTAAGGGTATGAATAGACTTTACACATAAAAGAGT GAAACACTTTGTTATGTAACATGTATAGTAAGTTTTTATTTTTTCTTTTG TTTTTATTTGCCTGTTTTTGGTAATCCAAATTGAAAAGGCCTGAACTCTT TCATGAGTTGAGTTCATATATAGTTTCAAAGTTCCTGAATTGATTTGGAT ACCTGCCTCTTTTTGGCTACCTTGAAAACTCTAGTGAACTCTCTTAATCA CTGGAGAATTGGACTGAGATCTCTGAGTTGTGATTTCAGTAAATTCTGTT CTCAAAATTTTTTATAAAGCAGCATTTATATACAGTCTTGATTACTTGTG CAAGTCACTTCCAAATCCTAATGAGAAACTGTCTCTGGACTTTTATATTT TCTTAGACCTACAGTTTAAATACCAAGAAAGGCTTTCATGTCTAATGTAA AAATGCAGTGAAACTTTGATATTATTCTGCAAAGGCCATGAGAAAGATGA TTACTTTGGAGACTTGTTACTTAGGATATTGGTTTTTAAAATGAGAGCAG ATTCTTCCCAAATTCCATAGGTAGGAACGTGACTATAAAAGGAAAATCTA TGAACCCCATATACCTACAAACTTTGGGTAGGAATTAAAACAAACATATA CTATTCTTGAAATGTTAACTCACTATTACATCTTGGGGGGTGTGATTTTA ATCAGGATAGAGTATTGTCAGATTGTTACTTGCTGGGATACATCCAAATT TTGAGGTTGTAGTCTTACTACATTATTTGTCTATCTGATGCCTTCCCCTT TTTTTCTTTGATACATTTGCATAAAGCAAAATGGCACTTTTTCACTAGAA ATGTTTCTAAAACCCAAATAATTTCTTCATTTGTGTGTAGTAAAAACAAG CTTCAGGAAAAAAGTTATTAGAATTTTAAAAATTAGTTATAAAATTATGG CAAAGCTCATGAATAGTTACTGAAGATTAATTTACTACTTTGTGAATAGC AAGTTGACAAAAATAATTTACAGTTCCTGCTTGACTTTCTCCCCTCTAAG TGGCATAAAGTAGAACTAGAGTTATTTTGTTTTGGTTTTGACCCAACTTA GAAGATTTGTTTTAAAGTTTCTGAAGTTTTGTCTCAGGAAAATAAGGTGG TTTTCCATGTAGAGAATGTAAGATTACATATGGCATCTGGTAGGCTGAAT TAATTCCATTTTCTTGTTACCTTCCATGGAAGAAGTTTCTAATAAAAAAA TCTTTTCAGGGCCGAGCGCAGTGGCTCACGCCTATAATCGCAGTAGTTTG GGAGGCCGAAGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCT GACCAACGTGGAAAAACCCTGTCTCTACTGAAAATGCAAAATTAGCTGGG AGTGGTGGTACATACCTGTAATCCCAGCTTCTTGGGAGGCTGAAGCAGAA GAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCC ATTGCACTCCAGCCTGGGCAACAGGAGCGAAACTCCATTAAAAAAAATAT AAAAAAAAATATATATATATATAATATATATATATTATTTAAATATATAT ATATTTAAAAATATATATATTAAAAATATATATATATATTTAAATATATA TATATTTAAAAATATATCTATTAAAAATATATATATATTATTTAAATATA TATATATTTAAAAATATATATATTAAAAATATATATATTTAAAAGAGCCT GTTCTGAGCTCACAACTCTTTGGGGGATTATTAGTGGCCCATTTTCTTGG GGAATCAGGTGGTTTGTATTTAGAGGTTTATATGTCTTCTACTTTATTGT GTCCTTTTGTTTTCCTTTTCACAGATGACTTGACATTTTGGCACAGAATA CATTTTAAATCCCTGGACAGAGTCATCACTTAAATGAACTAGCCCTTGCT TATATGTGCAGTGGATTGTGAAATGCGTCTACTGTAATAATATGCAATGT CTTGATTACCTGCTGAAATAAGGTGGATAGATGGATTTTTATTTTATTTA ATATTTATTTATTTATGTATTTTGAGACAGGGTCTCACTGTCACCCAGGC TGGCATGCAGTGGTGCGATCTCAGCTAACTGCAATGCCTCCCGGGTTCAA GCGATTCTCCCACCTCAACCCCCTGAGTAGCTGGGAGTACAGGCACGTGC TACCACCCTGGCATATTTTTATATTTTTGGTAGAGACAGGGTTTCACCAT GTTGACATGGTCTTGAACTCCTGGCCTCAAGTGATCCACCCGCCTCAGCC TCCCAAAGTGCTGGGATTACCATTGTGAGCCACCACACCCAGCCAAGATG GATTTTTAATTTGGAGTTTGTCACTTTTTCTGTACTCCAGGGTATGGTTT CTCATTGTCTGAAACATAGATTTTATTTTTCAAGCAGGCTATATTTTGTG GTTGCCTTTAAAAACATCCAGATGTGACAGACATTTCCTAATGAATACTA ATTGTACTTATTTTGTACAAAATATTGTAGAATCCATAGATGGACAGGGT AGGATCTTTGCTTTCTGTTATAGATACATGTGTAATAGGGTAGATTATAC TTAGATAACTGCAGACTACAATATCAGGTGATATATGAGTGTTAAATGTT TCACTAAGTTCTGCAGGTATGCTGAAAGAACAGTTTCTATCAAAGAAAGT AGGTTTCTAGGATAGGTAGGATTTGAATAGTCAGGGATTGGGAGGTTGGG GACATCATTCCAAGCAAAAAGAATGTAAACACTGCTGTAGCTATAGTGGA GAAAGGAATGTGTTTGGGGAATCCAAGTCTGGAGCACTGATGTGTGTGTG TTAGGAGGAATATTACTGTAAAGCAAATTGGGTTCTTGAATGCCAGGAGC AAGAATGTAGATTTTAGTTGATAGTAATTTCAGAGCCGCTGAAGTATTTT GAGCAGGGAATGAAGAAAGGCAATTTGGTGATGGCTTGTAAATGGATTTG GACAAGATGAGGGTTTTTTGAGACAGACTGATTGATTGGTGTCACAGAAA AGGGAGATAGAGGTGTTAGAAGAATTTGGCAACTAATTGGCAAAGTTTGA GCATGTGGGGCTGGGTTGGGAGTATCTCTAAAAGAACAATAATGGTACCT TCAACTGAAATAGCAAATCACAAGGAAAAGCTGATTCTAGTTTAAGGCAA GTCGAGTTTCAGAACTTTGGAGATTTGCAGTTGTAGGAGTGAAAGTAGGT GAGTATTCAGATGTCATTCCCATTGTTGAAACCTTGGATAATAATGTGTT TATTGTAATCCTACTTAAAATATGCATTTCTGTCAGAGTACAAAGAAAGA TGGTGTCTATGGAGTGGGGGAAGGAGAATTACCATTTTCTAAAAACATGT CTTGGTTTTCTGAGTGTTACTTTTGTAATGTGAAGAACAATAAAAAGAGT TGACTATTTTAAGAAACAGATTCAGCATTATACAGGAAAAAGGGAACTTG GAAGATGTTTCTAAGTCCGAAGGAAACTAGGAGGAAAAAAAATGGAATTT TGGA	C C	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA19070.hp2 NA18612.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	2	408	0.0049	-4153	c.182 others(16): Show c.182-5041_182-889del	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
THRB_chr3_24112153_24499850	24252882	CTGTGGAT others(4141): Show CTGTGGATGGACACAAAGAAACTAACAACACTGCCTATGAGGAGGGGACC TGGATGGTTAAGGGATGAGGTTTATTGCAGACCTTTCCATACATTTTAGA TTCTGGATCATGTATAGGATTTGGTATCTATTCAAAAAGAATAAATGAAT ACAATACAATACAATACAATACAGTGAATACAAATAAAGGTGGGGGAAAG AAAGAAAGGTAGAAAAATTTGAGGTAACACTCAGAGATAATGTACGTTTT ACAAAATTGCTGTGGAGATGAAATGCAATAACATAATAGAGGCATAAAAT AAATAATATAAAAAGGAAAATGGAAAGTATATATGGTATAGATTGTTGTA TATCTATAGAAAGGTAACCATTTAGTCTTCTTTTCTACAAAGTGCAACTC TAGAGCAAAGGTTGCAAACTTTACTGCTTACAGGGGCTAGACATTAATTC ATTCAACAGATAGGCATCAAGTGCCAGCCATGCCCCAGACAATGGAGATA CAGCATTGAACAAACACAGGAAAAAAAATCTCTGCCCTCACTGAGCTTTT GATCTAGAGGGAGATGACACAGGCAATTAAACAAATAAATGTCACATGGA ATAAGCAGCAGCAAAGTGCACTGGGAGTACAGTATTTAAATAGTGAGGTC AGGACAGACAATGATAGCAGTTGAGAGCTGCTGGCCTAACTGTCTCTTTC ATACAGGAGGCAGCAGATACTCTGCTCCAGGACGGAATTGTCACATGGGG CTGTGGAAAGAGTTTTGCCAGATCTTCAGATTTTCCAAGGAGATAAGAAA TTCAGATTTGTACTGGAAATCTCCTGGTTTTTCAATCCTGACTCAATTTT TAAAGAAAACCACTACGGTGGCCAAATAAAACACATCTTGCTAGCCAAGG CTGGCCAGGTAGATGATCAGTTCAGATCTCTAAAGAAATGAGATTGGGTT TGAAAACAAACACAGCAGAACTTGTAAGCCCTGTCATCTTATGAAGCTAT GCATGTTTTCCATGTCTTCAAACGTTTCTGGAACTCCTCACCGAGAGAGA ACCAGTTGTCCCTCAGAACCATTTTTTTTTTTTCTTACCACACAAGGAAA GCTGTTATCATTTTGAACTGAAATCTTGTTTGGACCCTGAGTCTATTCAC TAGATTTGATTATTCATAACATTTGGGTTTTTCTAAAAATCAGATTTACC GGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GACAGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAG TGAAACCCTGTCTCTACTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAATTAGCTGGGCATGGTGGCGGATGTCTGTAGTCCCAG CTACTCAGGAGGGTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCAAAGC TTGCAGTGAGCCCAGATTGTGGCACTCCAGGCTGGGCAACAGAGGGAGAC TCCATCTTAAAAAAAAAAAAAGAAAAGAAAACCAAATTTACCTTCCAAAG GCTCAGGATGTGTTTAATAATACATATACTATTGGCCTTAAAGGTAGTCC CAAAAGAGTGGCTGCAAATATTTAGAGTAAGAACAGTGTCACTAAAATAA ATATGCATCTTCCAAGGTAATCATTGAAGAAGATTGCACTTAAATGTGTA GGAGTCAACACAAGTCTCCCAGCCTTACAGGCATTTAATAAAACACTCAA TACTTTGGATTCTGTTGATTGCTATCAGGGTTTTTCCTCTTCTTCTTCTG CTTCTAAAGGGCTCAGTTCTTTGGACCTGATTGAGTGCTATAAGGCAGTT CATTCTAGGGATCCTTGGAATGCATATACCCAAACAAAGGCCTTGTGCCA AACATAACCAGCACGTACACCATTTTTATTTTCCTATGACCAATGACTTA GTTTCTGTGGTCAGTTAGTGACATTAGCCATGTAGAATCACATTGAGGAA GAATGCAAAGCTTTCTATGAGCCCCTGACAGCTTCAGTTTTCCTCTCTAA TAACATGTATGAATCAGAAGCCACTAGTTTGCATTTCAGAAATATTTGTG GTAGTTAGGAAACATACTGCACTTATTGTATTCCCATAGAAATAGAGTGT CCTTGGGAAGAATGGAAAAATGGCACTGAGACATCCACCAAGATATAGGC TTTATCAATTCCATTGTTGTCTGATGCTTATGCCTCCTTTGCTCTTGGTT ACTGGAAAGTCTGTAAACATTCATCCCATCGGTCCAGTATTTTTGTTAAA GCACAGATCTTAGATCAAATATGCCATAACTGTTTGTCTATCCATGTATC TACTCTTCCCTCCCTCTATGCATCCTTTTGTGAAATATTCTTTGAGTGCC TTTTACTGATTAACCCCTGTGCTAAGTGCTAGGCATGCAGTGTAAAACAA AAATAACATGTATATCACATATATAATACAATATATACATATACAATACA ACACATATACAATAATAATATCTGCCTTTAGGGAGCTTGCTGTCTTTTGG AGAGAATATATATTAATGAAGTTAATTATGCAAGCCAATGTAAAATTAAA GCTATGTGTCATTTTCCTTTATGGCCAAAATGTGGGCTCTCACTTAGATA AGGCTTTCTAGACAAAGTGATGAGTGGGATGAGACTCCCAGAAGTGCCAA CTAGAATGAAGTCAAAGGATGAGTAGGAGTTGCCCAGGTGGAAGGAGAGG GAAGGGCAATCCCATGTGTGGGTTTCATGGAGAAGGGAGGGACCCGTACT TATGTACAGGGTGATAGATGGCTGGTGTAGGCAGAAGGGTGAGGACAGGG AGCTGGAGAGAGATGAGTCTGGAGAGACAGACAGGAGACTGGCCGGGCAG GGCCTTTTAGGCCATAGACAAGATTTTATATTTATCCTAAGTCAGAAAAG GTTGAAGGGTCTTAAGTGAAGGAAGTAGCAATGATTAGATTTACATTTCA AAAACCACTGTATCCACTGTGTTGAGGGGGTGAGGGGAAGCCTTCATTGT CATATAGATAAATGGTAACTGAAGGTGTCAACATGGATGCTATTGCTTTA GAACTGCAGCTAGAGCAAGAAGAGGAGCACCCACTATTTAAAGAACTCTA ATATTGAAAAGTCAGGAAGAAACAGCGAGCTAGTGAGAGAGTCTGAGGAT CAAGTGAGCTGGCAAGAGTCTGTGAGGTACAAAGAAATCCCAGAGAGTTT TGTGTCATGGAACTAAGGGAAGAGACAAGAAGGACAGAGTAATCAGTGGT ACTGAATACTGCTGAGAGGTCAAGGGAGATGAGGTCTAGAAAATGGTCAC TGGATTTAGCAATATGAGGGTCATCAGAGGCCTTAATGAGTATTACTTGG TTAGTGGAAGAGGGCCTGAAGCCAGACAGATGGAGTTGAAGAGTAAATGG GAGATAAGGACACAGAAATGGTGCTCATTTATTCTCCTCTTCCCAGCCAA AGACTGGGAAGCCAAACTTTCAGAAGTTTGGCTGGAAAGAGGAGAATAAA TAATTGTGAGTTCGTTGCAGGGAATAAATGGTGATATGCTTTAAAAAAAT TTAATGGAAGATGTGGACATGTTTAGAAGGAAGATATATTAATAATAATA ATGATAGTAATTTGTTTTTGAGAGAGGGAAAAAGATAACTCATACTGAAA GATCCTGGGAGGGAGTCCCATCTGGAAGGAGAGAGATACGTGTCTCAAGT ATGTACAAGAAGGGTGGACACCTCTACTGTACTTGGGAGGAAGGGAGGAT GGACACAGATGTAGGTAGGCTCATGTGTCTGGTGTCAGGACAATTAGAGT TACAGAGAGATAGGTTTCATTTTCTCTGAAGGAGAAGGTGAGGTTATTTG ATGAGAGCAAGGGAGGACAAAGAGATGTTAGAGGGTTATGGAAGATGAAG TCTGAAACAGCATTACAGAAAGTGGAAGAGTATGTTGAACAGAGATATTT AGTAGGATTCAGGGAAATGTTGATGGCCCATTTGAAGGTGGCCATCTGAA TTCATAGTAGCACAAATTAGCTCTGTTCTGTGACCTTTTTTGTTTTTGCA GGACTGGCAAAAGCCCTTTGCAGAAAGATAGGAGTTCTGGGTTCTCGGT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0059 a0001c0002t0003g0059	1	178	0.0056	-4148	c.-42 others(19): Show c.-42-28029_-42-23882del	THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding	3/10			chr3	TogoVar
SDCBP2_chr20_1304909_1334139	1329994	GAGCAGAC others(4138): Show GAGCAGACCTAAGGAGCTGTGTGCTGAGGTGGAGATTTTTTTTTTTATGG CACATTTTTGGTGTCTTAAATTTTGAAAAGTTTAAATGTACTACTTATTC CAAAAATAATTATATAAATTTGAACAGAAAAGGAGGAAGAATTTAGTTTA GATCCTGGTGGGTTTGGTTGGGTGAGGGTGCCTGTCGCACTGGGTGCCTG GGGAGGGACGAGGGACTCGTGTGCTGGGCAGTCCCATGAGGATTGACGCT GTACACACTCAGGGTGTGTCAGTATCTGGGCTGCTTCCTGGGCCAGGCAG GCCTACGTCACAGTTCCCATGACCCACCTGGCAGAGTTGCACTAGCCTTG GGTGTCAGATCTTGTGCCTGCCAATGAAGAGCTTACAGCCCAGAGTCCCA CACAGGAAACACACAATAGGAATAATAACAAGAAAGACATTTGCCACTAA TTCAGCACTTACTCCCAGAGAGCACAGAGATTCTACCCCTGGCACTTTAA AGGCATTATCTCAATGGCTTCTCATGCCATCCCTGCAGAGTAGGTGTGAC TCACACCATTCCTCCAGGTGGGGACACTGAGGCACAGAGGCAAAGTTTCT CTCTCAAGTTAGCTGGAAAGTGGGCCAAGTTCATGTCTTCTCTTCTATGG GACATACTGTTTCAGAAAGCTGAGGTGTGGGGCAACCTCAGAGTAAGCTG TGTGGGCCTGAAGCTGAGGTAACGTGGGTGATGGACCCACCTTAGGTCAG GTGTCCAAGGCCAAAGCAAAGTGGAAAATAGAGATCCTAACTAAACCAAG CCACTCCTCCCCCACCTCACTTCATTCAGTCATGACCTGAAAGGGCCTTT ATAGAAGAGGGAGGAGGAAGCAGGCCCTTCCAGGTAAGGGGCTTGCCTGT GGTCCCAGCATGTCAGCATGGAGCCCAGGTCCCCTAACTCCCACCTATTT AATACCTACAGGGACTCTCTTTCTATTCCCTCTTTGGATAGTTGCCACCC ATCACTGACTTCCAGCCACCTGGAAATATCTTTCATTGGGCATGCCCTTG CTCGAACTCTTCAGTGGCTCCCTCCTGCTTCAGGGTCTGGGCTAAACTCC CAGGGCTGACATGGAGACCTCCACAGCCCACTCCCTTTATTACCTCCTCA GCACTCCCCCAGCACCTCTGCCTCAGCTGGACTGGGAGCCCCACCATTCC TGCCCCACTGCACACCCACTTCCTACCTGCCCTGACTCCATACCTTTGCC TGTCCTGCTGCTGCCCCTGGAACACCTTCTCCTGCCCCCACCCACCTAGC CACATCCACCACTGAGCTCCTCCAGGAAGCCTCTGGGATCCCCCACATCC ATGTGGCCTCTCCCGCCTCTGACTCTGGATCAGACGCTCCTGTTCCATTC TTTAATAATCATCATCTTGTACTCATGTGTACCTTTTAGGCTACTAGTTA GACCCTAAGTTCCCTGAGGGCAGGGCCAAGTTATTAGCTCTACAGTGGTC ATTCTTTTGAGACAGCATTTCGCTCTGTCACCCAGGCCATAGTGCTGTGG TGCAATCATGGTTCACTGCAGCCTCCACCTCCCAGGCTCAAAGGATTCTT CCACCTCAGCCTCCCTATTAGCTGGGACGACAGGTTCACACTGCCACACC TGGCTAATTTTTTTATTTTCTGTAGAGACAGGGTTTTGCCATGTTGCCCA GACTGGTCTCAAACTCCTGGGCTCAAGCAGTCTGCCTGCCTGAGCCTCCC AAAGTGCTGGGATTACAGGTGTGAGACCCCACACCCAGCCAGTTACTCTT TTCAAAATAAGGAGTGGAACTGTGCTCTGACCAGACAATATTTCTGCTTT GTTATATATTTGTATGAACAAGTCTAAAACTTTGGGTGGCCAGTAAACAG CACACACTCAGAAACTCCCTGGTAGCACCCATGGCACCCTGAGTAATCAA CCACTAATGTCCTTCCTGCTGGGCCCAGAGGCCTCTCCGGATCCTCTCGT CATAATGCTGCAGGCAGCTACCGTCACCTAGAGTTGGCTCATGAGGTGAA GTCTCCATGCCATCTGGAATGGGTGCTCCATGATGGCAGGGGCTTGTCTT AACCCTGAGGCCTAGTACTATGCCTGGCACATAGCAGGCTCACAGTAAAT TTTTTTTTTTTTTTTGAGATATGGTCTTGCTCTGTCTGCCAGGCTCAAGT GATCCTCCTGTCTCAGCCTCCTACGATCCTCCTGCCTCAGCCTCCCAAGA TCCTCCTGCCTCAGCCTCCCACAATCCTCCTGCCTCAGCCTCCTGAATAG CTGGGACCACAGGCGTATGCCACCACAGCTGGTTAATTTTTGTATTTTCT GTAGAGATGGGGTTTTGCCATGTTGCCTAGGCTGGTTTTGAACTCCTGGG CTCAAGGGATGTATCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCG TGAGCCACCACACCTGGCCTCAGTAAATATTGACTGAGTGAATAAATGCC CCTCCTAGAAAAGTCAATCACAGTTAGAAACTTAAATGGCTGACCCTTAT TTAAAAGATGGGTTGGGCTGGGGCATCCGATCTGAGTCCCAGCTCTGTGA TGTTGCACATGTTACTAAACCTCTCTGAGCTGTAGTTTCCACACCTACCT TCTTTATAGACTTATCCTGAAGACTAAATGAGGTAACCATGTGAAGTACC TAGGACACAGCTGGCATTTAGTAAATGTTAGTTTCCTACTTTCTCATGGC TACATGTCACAGAAACAGTCATCTGATTGGAGTGAAAATAGAGATGCTCT TCCCAGAAGAAGAGAGAATGTCGGCTGGGCAGAGAAGGAGCTGCTCTACA CTCCAGCCCTCTGCATGGAATCTGGGTAGTGCAGCAAGACCCTGGCTTAT GTCATCACAGCTTTGTTCCTACTGCTGAATTGAAATAATAACAGGAAGCG TAGCATTTATTGAGCTCCTGCACACTGGGTGCTCTGCTGGGCACTGGGCA TACACTGATCTCATCTGTTCACCATAATTCCCAGCTTCAGAGTGAAGCAC TTTGCCCAAGGCAACACACCCCAAGAGTGGTAAGGCCAGGCCTTGGCTCT GAACCTCTAGGAGTCTCCTACCCTAGTGCAGCTGAGTCACAGATTTCTCT TTAAGAAACCCACAAAGAAGTCCTTAGGTGGCAAAAATTTGATCACATGG CCACATAGAGCTGCATGGGAGACTGGGAAATGGAGGCAGTCTATTGTTAG CAGGTTCTGTGCCAGCCTCTACTATAGCATGCTGTGAAGCCCTGCCCTTT CTGGACCTCAGTCTCCGTATTTGGCCAGGGAAGAGTTTGGATGGATTTTC TCTGAGGTTTGCCCTAACGGTACTAAGGCCCCACAAAGGGCCAACTCTAT TGCCACTTCCAGTCCCTCCTGTGGCGTGAACACCAAAGATGTCCACTATG AGCATTTGGTCTCCAAACACAATGTCCTTCATGCTATTTCTGAGCTCCAT CTTGGTTTTGCTTTTTGGAGATGTGTGTGAGTTAAGGTAGGCCAGGTTAT GCTGCAGCAACAAACAACCCTGAAATCTTGGTGGCTCCTAATAGGAAGTG TCATTCTCATGCACGCTACTACCCGTCAAGGGCTGGCAGGGTCCCCATGT CTCCTTACTCCAGGACTGGGGGTGATGGAGCAGCTGCCATCTCAAAGGCC GTCAGAAGCCACGGCAGAGGGAAAGAGATCTCTATCTGGCAATTAAGTGC TCCAGCCCAAATGACAGATGTCACTTCTCACACCTTGTTGGCCAGGTTAC CCCACCTCCCAATCACAAGGGAACAGGGAGCTGCCATCCCACCACATGCC TGGAAGGCAAAGAGTAGGAAATATAGGAGGATGACATTAATAACAACCTC AGGCCTCTGTTCCAGAGTGTCTGCCAGCCAGCTCTGATCATCTGTGTCAG GGCAGGGGTAGCAGATGTGGCCTGGGAGGCTGCACCGAGCCCTGCTGGGA CCTACATGGGGAGTGAGGGGCTGAAGAGATGGAAAGACGTCTGACATTCT GGAGTCTGGGGCCGAGGCTGGACAGCGCAACCTGCCACTGTAGGTAGAAT TCCTATGTTGAAACTGAATCTCCAATGTGATAGTACTAAGAGGTGG	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	430	0.0023	-4145	c.-50 others(10): Show c.-5074_-930del	SDCBP2	ENSG00000125775.15	transcript	ENST00000360779.4	protein_coding		856		chr20	TogoVar
TPO_chr2_1408463_1548673	1529064	AACTTCCC others(4133): Show AACTTCCCTAAATCCCCCCAACTGTGTTTAACCTCTCCAAATCCCCCCAC TGTGTGCAACCTCCCCGAATCCCCCCACTGTGTGCAACCTCCCTGAATCC CCCCACTGTGTGCAGCCTCTCCAAATCCCCCCCACTCTGTGCAACCTCCT CAAATCCCCCCCACTGTGTGCAACCGTGCTAAATCCCCCCACTCTGTGCA ACCTCCTCAAATCCCCCCACTGTGTGCAACCTCCCCAAATCCCCCCACTG TGTGCAACGTCCCCAAATTCCCCCACTGTGTGCAACCTCCCCAAATCCCC CCACTATGTGCAACGTCCCCAAATCCCCCCACTGTCTGCAACATCCCCAA ATGCCCCCACTGTGAGCAACCTTCCCAAATCCCCCCACTGTGTGCAATCT CCCCATATCCCCCCACTGTGAGCAACCTCCCCAAATCCCACTTGTTGCAA CCTCCCCAAATCCCCCCACTGTGAGCAATCTCCCCAAATGCCCCACCGTG TGCAACCTCCTCAAATCCCCCACCACTCAGAGCAACCTTCTCAAATCCCC CCAATGTGAGCAACCTCCTCAAATCCCCGTACTGTGTGCAACCTCCTATC ACCCCCACTGTGTGCAACCTCCTCAAATCCCCCCACTGCGTGCAACCTCC TCAAATCCCCCCACTGTGAGCAATCTCCTCAAATCCCCCCACTGTGTGCA ACCTCCTCTAATCCCCCCACTGTGAGCAACCTCCCCAAATCCCTCCCATT GTGTGCAGCCTCCCCAAATCCCCCCGACGCTGTGCAACCTCCCAAAATTG CCCCCACTGTGTGCAACCTCCTCAAATCCCTCCCACTCTGTGCAAACTCC CCAAACCCCCCCCTTGCAGCCTCCCCATATCCCCCCAACTCTGTGCAACC TCCCGAAAACACCCCTCACTGTGTGCAACCTCGCCCAATCACGACACTGT GTGCAACCTCCCCAAATCACCCCCACTCTCTGCAACCTCCCCAAGTCTCC CACACTCTGTGCAACCTCCTCAAATCCCCCCACTGTTTGCAACCTCCCAA AATCTCCCTATGCGCAACCTCGCAAAATCTCCCCCACTATGTGCAACCTC CTCAAATCCCCCCACTGTGTCCAACCTCCCCAAATCCCTCCCACTGTGTG CAACCTCCTCTAGTCCCCCACTGTGTGCACCCCCCAAAAATCCCCCCACT GTGTGCAACCTCCTCAAATCCCCCGCCAGTGTGAGCAACCTCCTAAAATC CCCACACTGTGAGAAACCTCCTCAAATCCCCCCAAGTGTGTGCAACGTCC CCAAATATCCCCAGTGTGTGCAACTTCCCTAAATCCCCTAAACTGTATTC AACCTCTCCAAATCCCCACCACTGTGTGCAACCTCCCGAAATCCCATCAA CTGTGTGCAACATCCTCAAATCCCCCTCACTCTGTGCAACCTCCCCAAAT CTCCCCCACTCTGTGCAACCCCCCCAAATCCCCCCCATTGTGGGCAACGT CACAAAATCCCACGATGTGTGCAACCTCCCCAAATCCCCCACACTCTGTG CAACCTCCCCAACTCCCCGACTCTCTGCAACCTCCCCAAATCCCCCACAC TGTGTGCAACCTTCTCAAATCCCCCTACTGTGTGCAACCTCCTCAAATCC CCCCCACTGTGTGCAACCTCCTCAAATCCCCCCCACTGTGTGCAACCTCC TCAAATCCCCCCATGGGGGGCAACGTCCTCAAATCCCCCGACTGTGTGCA ACCTCCTGAAATCCCTTCACTGCGTGCAACCTCCCCAAATACCCCCACTG TGTGCAACCTCCGCAAATCCCCCCACTGTGTGCAACCTCCCCAAATCCCC CCCACTCTGTGCGACCTCCCCAAATCCCCCCACTATGTGCGACCTCCTCA AATCCCCCCAGTATGTGCAACCTCCTCAAATCCCTCCACTCTGTGCAACC TCACCCTATCTTTCCCACTGTGTGCAACCCCCCCAAATACCCCCACTATG TGCAACCTCCTCAAATCCCCCCACTGTGTGCAACCTCCCCAAATCCCCCC ACTGTGTGCAACCTCCCCAAAACCCCCCACTGTGTGCAACCTCCCCAAAT CCCCCCCACTGTGAGCAACCTCCCCAAATCCCCACACTGTCTGCAACCAC CCCAAATCGCCCCCACTGTGTGCAACCGCCTCATATTCCCCCCACTGTGT GGACCCTTCTCAAATCCCCCCTAATGTCAGCAACTTCCCTAAATCCCCCA ACTGTGTTCAACCTCCCCAAATCCCTCCCACTGTGTGCAGCCTCCCCAAA TCCTCCCGACTCTGTGCAACCTCCCAAAATTGCCCCCACTGTGTTCAACC TCCCCAAATCCCTCCCACTGTGAGCAACCTCCCCAAATCCCTCCCACTGT GTGCAGCCTCCCCAAATCCTCCCGACTCTGTGCAACCTCCCAAAATTGCC CCCACTGTGTGCAACCTCCTCAAATCCCTCCCACTCTGTGCAAACTCCCC AAACCCCCACACTCTGTGCAACCGCCCCATATCCCCCCCACTCTGTGCAA CCTCCCCAAAACACCCCTCAATGTGTGCAACCTCGCCCAATCACGACACT GTGTGCAATCTCCCCAAATCCCGCCCACTCTTTGCAACCTCGCCAAATCC CCCCCACTCTCTGCAACCTCCCCAAATCACCCCCACTCTCTGTAACCTCC CCAAATCACCCCCACTCTCTGCAACCTCCCCAAATCACCCCCACTCTCTG CAACCTCCCCAAATCACCCCCACTCTCTGCAACCTCCCCAAATCCCTCAC ACTGTGTGCAACCTCCTCAAATCACCCTACTGTGTGCAACCTCCTCAAAT CACCCCCACTGTGTGCAACCTCCTCAAATCCCCCCACTGCGAGCAACCTC CTCAAATCTCCCCACTGTGTGCAACCTCCCAAAATCTCCCCTATTGTGTG CAACGTCCTCAAATCCCCTCACTGTGTGCAACCTCCCCAAATACCCCCCA CTGTGTGCACCTTCCTCAAGTCCCCCACTGTGTGCAACCCCCACAAATCC CCCCACTGTGCGCAACCTCCTCTAATCCCCTCACTGTGTGCAACCTACAC AAATGCCCCCCACAGTGCGCAACCTCCTCAAATCCCCCACCACTGTGAGC AACCTCCTCAAATCCCCCCACTGCCTGCAACCTCCTCAAATCCCCCCACT GTGTGCAACCTCCTCAAGTCCCCCACTGTGTGCAACCCCCACAAAACTCC CACTGTGCGCAACCTCCTCTAATCCCCTGTGTGCAACCTCCACAAATACC CCCCACAGTGCGCAACCTCCTCAAATCCCCCACCACTGTGAGCAACCTCC CCAAATCCCCCCACTGTGAGTAACCTCCTGCAATTGCCCCGCACTGTGCA ACCTCCTCAAATCCCCCCCACAGTGCAAAACCTCCTCAAAACCCCCGCCA CTCTGAGCAACCTCCTCAAATACCCCACTGTCAGCAACCTCCTCAAATCC CCCCAACTGTGTGCGACCTCCCCAAATCCCCCCCACAGTGTGCAATCTCC ACAAATCCCCCCCCACTCTGTACAACCTCCCCAAACCCCCCCAACTGTGT ACAACTTCCTCACAACCACCCACTCTGTGCAACCTCCCCAAATCCCCCAC TGTGAGCAACCTTCCCAAATCCCCCCACTGTGTGCAATCTCCCCATATCC CCCCACTGTGAGCAACCTCCCCAAATCCCCCACACTATGTGCAACCTCCT CAAATCCCCCCACTCTGCACAATCTCCCCAAATCCCCCCCACTCTGCGCA ACCTCCTCAAATACCCCCAGTTTGCAACCTCCCAAAATCTCCCTATGTGC AACCTCGCAAAATCTCCCCCACTATGTGCAACCTCCTCAAATCCCCCCAC TGTGTCCAGCCTCCCCAAATCCCTCCCACTGTGTGCAACCTCCTCTAGTC CCCCACTGTGTGCACCCCCCAAAAATCCCCCCACTGTGTGCAACCTCCTC AAATCCCCCTACTGCGAGCAACCTCCTCAAATCTCTCCACTGTGTGCAAC CTCCCCAAATCCCCCACTGTGTGCAACGTCCCCAAATCCCCCCACTGTGA GCAACCTTCCCAAATCCCCCCACTGTGTGCAATCTCCCCAT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0015 a0008c0011t0015	a0008c0011t0015g0120 a0008c0011t0015g0120	1	130	0.0077	-4140	c.261 others(20): Show c.2619-11528_2619-7389del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
IFI16_chr1_159004907_159060151	159045042	CGTGAAGA others(4128): Show CGTGAAGACTGAGTATTCCATCCCCAGACAATGCAATTTCAGTTATCTGA GTTTTTAATCCTGACTGGGATGAGAGAAGGCTGAGTGATAGAAGTATCTG AATATGTGGTATTATTCCTCCTGCAACTCAGGGAAAAACAGAGAAACTGG CAAAGTGAACATCCTATTTAAAAAAGAAAAAAGGAAAAGATGTGTTTCAT CTGATCTTGAAAAACATTAACTAGAAAAAAAGAACAAACATCTATTTTCC TTTAGAAAAGTGAAGACACAATCTCCAAAATGAATGACTTCATGAGGATG CAGATACTGAAGGAAGGGAGTCATTTTCCAGGACCGTTCATGACCAGCAT AGGCCCAGCTGAGAGCCATCCCCACACTCCTCAGATGCCTCCATCAACAC CAAGCAGCAGTTTCTTAACCACGGTACAAGTTCCCTCTTCCCAATACATT CCCCTCACTACAATGTAATGACAAGGATTAACACAACCTTGAAAGCACCT CACCAATCCCCTACTACATACAATGCTTTAATTTAACCAAATCAGTCATT TATTTATCAAGTGTGTATTTTGAGGTCCTATCCAAAATTAAAATTCTATT TTTATCATCTCTATTCCATAGCAGGTATAATTAGATATCTTTTTAATTTT ATTTTCCTTTTGGCTTACCTTTTTGTTTTTCCCTCAATACACCACGAAAA TAATACTTTAAGGTAGAACAAGGTGGGAAAAAACAGAGCCAACCATAACA CTATCACTGATTCTTTCTCTTTCATTTATTATAACTCAAATAATACCATC TTTAAAAATTTAGGAAAAGAAGGTACATAAGCAAAAATAATTAATTTTTA ACTATCAGAAATCTTTATCTAATGCCACATTTCAGTACATGGTCTTTCTG ACTTTACACCTTTCATTATGTATATACAAAGAGTCTTATTATATTCTCTC AGAGTAAATCACATTACGCATATTTTTCTATAACTCATGCTTTTTATTAA TATATCTTGAACTGCCATTCAACCATACAATATAGATTTAAATTACTTTA TTGTACCAGAAAAATTGCATGGTTATTCCATACATTATAAAATGATCCTA CGTTATTTGGCTTATGTTGTTTCTAGTATTCTGTGAATTTACAATGAACA TAGTAAGAACAAATGTCTCTCAGATCTTCTTTCATTACCCTCAGAGTAGC TTTATAATTATTTCCTTAGGTCCTGTGCACCTTGTGTCAGGGTACTAATG TCATGGCTATTGTAAGGTGATTTGATACTGATTAACTTCATTGGGAACGG GTTTCCTAATGTTATGGAAAATTGGCCACATTGATGAGTTTTGTGTGTGA TATGCGTTATTCCTGGTTTTGATTTGAAAACCAGAAGGATAACATTTTTA TATTTGATATCTTCTACCATGTCTCCCTTTAAATAAACAACATACAATGA TTTGAGATATGAACAGGAATAATTGCTATTTTTTCCTGAATAACAATTCC ACCAGTATTATTATTACCAATATGTTCATCCTCTACATTCCAGTTTCTTT GCAATCCTTTCTCTTTTGCTCTCTCACCATACATCAGAGGTTAGTTTCAC TATCCATGCTCTTAACCACATCAAGGGTTTTGATACTTCCTTTGATATCA AATTTTTCCATCTCAATTCTGTCCCCAAATAAGTTCAACCACGAGGTACC AGTCTCATCTATTCCTTGAGCAAGTTCTCACTAATACCCTCCTCCCAGAA TAGATCATATTTTCTCATTGTTTGCCTTCATAGGTACCTTTCTATTTCTT TAGAGCATTTATCATAGCTATAATAAACCTATGACTTTCTTCCCTACTCA GCAATAAATGTAGGTTATAGATACCCTTTCCTAGGAGAAGATAACACAGA GGTGGGAAAGTGAATTTACACTTGTGTGTTATCAACCCTTATCCCAGCTT GCCTTTTGTTCTGCCCTGATACCTCTGTATGACCTACAATCCAGCGCTAT GGGGCCTACACCCAAGACGAATGGGCAGGGAAGGTATGGGCAGGGAAATA CTGACCCACGGCAACTTGAGGGATAGGGAACACTAAGATTTACATTACTA TTCTCCAATGTTGTTTCTCACCCAAGCCCCAAGCTACCCCCGGCCCAGGT TGCGGACCCGAGCACCATCCACACACGTCAGTTGAGAACAGGCTTTCTAC ATACAGGTTTTCTCAATTTTTTAGACAGTCTTTTTTTTTAGTTATTAATT TCAAGATTTCATATTTCCCCCTATATAGTCTTTCCTGGTTCTTCTTGGGC AGAACTAGCTGCTTGTAACTGTTGCCATCTTGGGACTTACCATCAAGGCC ACAGGTAGAGCCCATGTGTAGTCATGAAAATCTCAGGCCCACTGTCTCTC TGTTACTGTAATGACATACATAGACATCATAAGACAACTACTCTGTCCAT GCATACTGGCTTGGAAGTGACACTTTCTAAGACCTTGCCTGCCTAAATAT GCAGCACAATCATTTCTACTTGCATAGGAATCATTCTGCTGCTCTGAAAG CTCAGGATCCAAGGCAGACTCATCCACCTAAACATACACCACGTAGTCAT TTCTTCTCTGGGATCCAGCCATCTTCACAGGAGGCCTGCAAAAATGGTGT CTGACCAATCAGTCTGTGATTCGCAACGTAAGCCGGGAATCCTTGCTCTT ATACATCACAGCTTCTCCCAAGTAGTTTTTCTATAATAGAGTTCTTTCTG ACTTTAATTCAAAGCCGGAAACAGACTATTACCTTTGATTTATGCTGTTA CGTATCCTGAAGTGAACAGTACACAAGGGCATAATTCATGAACAGGGTAG GGTGGAGGAGGATTTATTCTGAGGGAAAACAAATGCTTGCACTTTTAAAA TATTATTCAAACAAAGATTATAATTTCATCATCCAAACTGGGCTACTGTG ATGACAGTTTAAGATTTCACTTATTTTTAAAACATTATATCTCAAGACAA TCTTGTCAATAAAATTACATTGCTACACATGGCAGATCTGAAGAGAGGGG CTTCTCTCCTATTATGCTTCCTATATTACCTCCATACAAGATTTCCATCA GCAAGGGCATCATAAAGCATGAAATAGCTGTTCATCAGAGCAGACACGCA AACCCCTAATAGATCGTGGAAAAATAATAGCAACAAAGATTTATTTATTG AGCATTTACTGAGCTCTGGACTCTAAAACCCATTCTTTGTGCACATTACC TAATTTATTCTTTATAACACCATACAAAAATGCTATGGCTAGTCCCACTT CACATGTGAGAAAACTGAGATGCAAAGAAATCTTCCTCAGGGTCACACAA ATAGTATTAGAGTCAGGATTCAAATGCAGCCTTATTGAACTTAAAATGTT AACATTTAAAATGTGAACCTTTAATGAGCATAGACTGAATCCACAGTAGG TGTGCAAATGTTAAACAATTTTGAAAATACAGTGTTTTGTTTGGGGTTTA TTTCCATAGTCCAGGTGCTCAGTGGTGGTCAGAGACTGTTCTAATCAAGA AGCTGTTCTCCATGTGAGCTCACTACAAGCAGTTCTTTTGTGTACCTCTC TATCAACAATTGCCACTTAAAAAATTAGGTTACTGAATGGCAAAACTGCT AAAATAATGTGCCACATTGGCCAAATAGGGTGAATATTTTTTGGACTTCC ATTAGTTTAATTAAAGGTAGTCAAGGTATGTGATTTTAGAGATATTCTCC AGTCTTACTTGAAAAATGTATAAAAATATAGCTAATGGGAATGCTTTAGG TGGAATATTAAATTGTTCTGAATACAGCTAAAAACCCTGAAAGATTCTGA TAGCCTGATCCACACTGTAGTGATCATAGAACCTTCCCTGAGGAATTGTG AATTTGAGAGAATCTTCCTGTTATGGCTACGATCAGAGATCCCTAAAGGA TGGAGATCTGGGTTTCTTGTATGCTGAAGAGCACTTGAGAGAGACTGGTT TGTGTATCTAATTGATGAGAAAGGCCTAGTTAATAAATGTCCATAAATGT AGCCAACTTTATTGCAAGCCATGCTGCCCCCAAAATAGCCCTAAGAGTTG TACCTGACCAAATAACTCAGTCCAGTTTTACAGGAT	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00642.hp1 HG01192.hp1 HG01516.hp2 others(3): Show HG00642.hp1 HG01192.hp1 HG01516.hp2 HG01517.hp1 HG02622.hp2 NA20129.hp1	a0006 a0006	a0006c0010 a0006c0020 a0006c0010 a0006c0020	a0006c0010t0002 a0006c0020t0001 a0006c0010t0002 a0006c0020t0001	a0006c0010t0002g0026 a0006c0010t0002g0027 a0006c0010t0002g0220 others(1): Show a0006c0010t0002g0026 a0006c0010t0002g0027 a0006c0010t0002g0220 a0006c0020t0001g0226	6	320	0.0188	-4135	c.149 others(15): Show c.1497+34_1665+33del	IFI16	ENSG00000163565.20	transcript	ENST00000295809.12	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MMP26_chr11_4699784_4997429	4973030	AGGCACCA others(4128): Show AGGCACCAGCAGAAAAGCATCAGCTATGAGGATCCTAGTGATTGGGAAAC TGTGTTTGGCAAACCGGTAGATGACAGCTAGGGAGATAATGGGCACATAG AAGATGAGCACAGCACAGATGTGGGAAACACATGTATTGAGGACCTTGAG CCTTTTCTTTCATGATGCTATGCTCAACACTGCTTTCAGTATCAACATGT AGGACATGAAAATAAATGTCAAGTCTAGGATGCCTGTGAGAGCCACAAAT AAGCCATAGATGATGTTGACCTTGTTGTCAGTGCAGGCCAGTTTCATGAC ATCTTGATGGAGGCAGTAGGATTGGGACAGGAGGTTCTTCTTACAATATT TTAGATGTTTTAGAGTGAAAGGAAATGGGAGGATCAACAAAACATTTTTG AGAGAAAAAGCAAGCCCAATTTGAATGACTCTGGCACTGGTGAGGATGGA AGTGTATCTCAGGGGGTTGCAGATGGCAATAAAGCGATCAAAGGACATTA TAAGAAGTACAGATGACTCCATAGCTGAGAATCCATGGATGAAAAACTCT TGAGCAATACAGGCATCAGGGGAAATTCCTGGAGCATTGAACAGGAAAAT CCTTAACATGGTAGGGAGAGAGGAGAGGGATAGTCCCAGGTCAGAGAGAG CCAACATGGAGAGAAAATAGTACATGGGCTCATGCAAAGAAGGCTCTGTT TTTATGAAAAACAGAATGGTACAATTCCCTAGGATAGCAACAGTGTACAT GAGACATATGGGGATAGAGATCCAAATATTGGCATGCTCCAAACCTGGGA TCCCAACCAAGTAGAAAATAGAGATTTCCATTTCAGAGGTATTGAGAATG GACATCCCAGTATTTGAGGGAAAAGATGAGAAGCTCATAAGAGGTTTTCT GTAGAGGTATAAGTAGATCGGCTCAAATGCCTGGCTCTATCCTATTGAAC TCATTGAGGTCTTACAACACCAGGTATATAGACATAATTCTTAGACACAA ACCTAAAAGGAGAAATAGATAGGTAGACTCAACTAGAAACAAAAAACCGA GAAAAAATAATGCAAATTGATATCAAAATCTAATCTTAAAATAGATACAG ATTATAACAGGTACAAGTCCTATACAAGGACTACTGATCAACTGAGATAA TTATACAGGCGAACATTATCCAACTCAAAGACTTGAAACTTTTGCTTTTT AATATAACGTTGCAATATATGTCCTGCTTATAAATTTGTTTAAAATTTCT GTCATAAAAATTCAGCTGAAAAAAAAGGTCTAAAATTTTGTTAAAAATTT GTAAGATTTTTTAAAAGTTCAAAACATTTACATAAAATTCAAAAAAAAAT ATATGTATATAGTGTCTTCGTTGTAAACATGGATTTTCTTTTCCTTTCCT CGAATCTTTTATATCTCTCAAAAATACGTTGTCATTCTTTATAGAGGATT TTACAAAATTTATTTTTAGATCATTATGATTTTATTGCTATTCTTTACAG AATCATTCATCCTCTATTATTTTCTGTTTTTCTTAGTGATTACTGATTGC TTAGAGGAACAATATAAAATTTTGTTGTCAAAATCTACCATCCCATGCTG TTCTTTCTCTTTTTGTCTGTTTCCTCACTACCATAGATTTCGGAGTGCCT TTGCATCATCTTCTTAACTCTGTATACACCTTTGTAAAGAAATCCTAGGA AGGATTTTTATGTGGTACATGTACGCCACAGAATATTATACAGCCATAAA AGGAACGACATCATGTCCTTTGCAGGGACATGGATGGGGCTGGAAGCCAT TATCCTCAGCAAACTGACACAGGAACAGAAAACCAAACACCGCATGTTCT CACTTATAAGTGGGAGCTGAACAAAGAGAACACATGGACACAGGGAGAGG AACAACACACACTGGGGCCTGTCAGGGGTTGAGGTGGGGGGAGGGAGAGT ATTAGGAGAAATAGCTAATGCATGCTGGGCTTAATACCTAGGTGATGGGT TGATAGGTGCAGCAAACCACCCTGGCACAAGTTTACCTATGTGACAAACC TGCATGTCCTGCACATGTACCCCAGAACTTAAAATGAAATAACATTTTTT AAAAATGCCTAGGACGTTCTGGATTTAATAAGAAATTACATGCAAACAAA CAAACAAAACACAAGAAAAAAATCAGGCAAGTGTTAAGATAATATTTACC TAGAGTTTGGAAGATCCTCACGCAAAATCAGAGGAGGGCAATGTATAAAT TTTTATTACTGTGGCTAATACCAGTATGATGGCTGTCTGCTTTAAACACT AATCCAGGTGTGTCAAGTGGTCCAACTACCAACTGAAGGCTTTTTGTGCC TGTTAGGCCTAGTGTCCTCCAACTCCCAAGTCTTGCTTCTGATATTAATC TGAAAAGAGTGAGATTAAGTCTTCAGTGGAAAACTGAAGATTTATTCTAT CAGGGCTTGTAAGATTGTTATTTGCTTATTTATTCCATATGGCTGAATAG AGTTATTGGAAGTTCTTTCCTGCCAGGACGGAGGTTCAAAGTGTATTTAA TGTTAAAATTGTTAAGGTAAGTGAATCGTTTGAGAAGAATGTGCACCTTT CGCTGCTTGAGATCATTCTGCATGGCTTTTGTATGAAACACAGCCAGTTC AGGCTTCACTGCCTCAACCTTCTCTGTCACTGACTTCATCTCCCCTCCAT GCTGTTCCTCCTGTGGATGTATGGAGATACGGTTCCTCTTTTGATTTCCT CCCAAATGTTCTCTAGCGAACATTCTCCCAAAACTTTGTGTTGCCAAGAT GTTGGTATTGTTTTTGACATACAGTAACTGCTTTAATAGCTCTGCATCAT TTAATCAACGTACACTTTTTAAAATCTGAGTTTTAAATCCCTCCATATTC AACCCAGCTAATAACTTTGAGCTTATACCAGCCCTCTTAATAGGATTAAA AAGTACTTCGTAATCAGTGAGGAAAAGTAGGGTATAAAAATCTCTTTCTT TAGAAAATGCTATGGCTTTCTGGAAGATTATTTTATTTTGCTTTAAAAGA TGTTACTTTTAGAGACTCTAGAGGAACTAGAACATTGCACAGATAGGATT GTCCAGTATTCTGTCTTTGGCTCAGAAATGCCTACTCAACTAAATTGTCT AGTTTATAAAAATGCAAAAAAGTTGAAGTAACAGATACAGAATGTCTTTT TAAAATGAAGTTAAAATAAAGTTCAGTATTTATATGAAAGTTGTTAAATA AGGTTATCATGTTCTTTATATTAATAGGATAATGATGTTTGTATAATAAT GTTGTCAGGATGGTGTTATGCAGATTGTCAAACCTTGAGTATATGTTGAC ATGGAAGCAAGTATTAAATGGTAAAATCATAACAGCTTATTAAGGATAAA ATACCCATCTTAATGCTCTTGATTAATGAGACTTGCAATTAGAACATCAG GATTTTCAGGTACTTACCAAGATCATGCTTAGTCCATACTTCAAGGTAAG AAGGAGCTGAACCCAGGATAAAGCCACTCAAATCCCGGCTATTAGGCCCA TGTATTGATCTTGATGGTCTGACTCTAGCCCTTCTACCTTGGTGCCTTTT TAGTGGAACAAAGGCCTCTGAGGATGACACCTCAGGAAGCAAGACCCAGA GGGATTAAAAAGCCCACAGGTCTTTTCTTTACACAGATGAGACCTTAAAT AAGAGTGGACTCAAACAGAATCAGCTGAATTGCTATACTGCATGTAAATT AGCCATTGAAGGTTAACATCCTATGAGACCTATTCTTCTTTATTCAACAG AATTGATTGCTCTTTCGCCTGCAGTTATAGGTTCTTCTGGAGAAGTGTTC ACAATTTATTTTCCTAAGTCATTATGTTTGTGCCACTGTGAGTTTTCAGA TTCACTTTTGCTACTTGCTTATACATGCAATTTTTATCTTATAAAATGAA AGTCGTTATTCTGCTCATGTTTAAGAGCACCTGAATTTATTTTTAGAGGC CAGTCTATATACCCTTTGTTCATTTTTTAAATTTTATCTATTAGTCTGAG TACTTCCTATATTAAATAAATGTATTTTTACTGTTACTTAAAGATTTCTT GCTCTTGTGTTACTCATATTTGTCTTTGATAATGAT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp1 HG02895.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0134 a0001c0001t0001g0126 a0001c0001t0001g0134	2	206	0.0097	-4135	c.-14 others(21): Show c.-144-15036_-144-10902del	MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
FREM2_chr13_38682077_38892131	38805148	GGAAGCAC others(4124): Show GGAAGCACCTGGATGTTTTTGAATAAGAGAATTAAATAATCAGAGCAGTG TTTCAAGGTTATTAATGATATAGCAGTGTACGTGAAAAGAAATGTAGGGT AAGGAGGTGAGGCTAGAAAGGAAAGGACTCACTGCTAAGAAAAACCTGAC ATAACTAGGACATCACAGAGGGAGGAAGGAGGAGAGGGATTGAAAAAAAA TCTACGTTCAAAAAAGATTGTGCGTGGAAGCTCCAAAAAACTGAGGTACC ATTATAGGAGGTTAGGAGAAGGAATTAGTCTAGGGAAAGAAAGATGGAAG AAGATGAGACTCTATTTAAACATACTAAGATAGAGCTACCTGCAGGGCAT GCAGGTGAAACCAGGCAATAGGCCGGTAAAATACAGAACTAACTAAGCTG AAGTTTGAGATTTATAAGTCACATGTCTGATGGTGGCAGTTGAAATAAGG AGGGTAGATGACATCTACAAGAAAGAGAAGAGAGGGTGAAGAAAGTCAAT TACTTGCAGTAGAATTTTATCTATAGTTATAATAAATTGAGTATGTGAAG TGGAATAATGAAAGGTTACCAGACTATATTTCTACTAAATATTAATGTAT AGATTTTTTGGCTGTTAGCTACAAATAGTAATTATCACTTGTTATATATT AAGAAAATTGTGAAAATGTGCGGTATTAAGTACATTAATGGAATTGTCAA ATAATAAATATACCTTTAGGCCCTTTTAAATAAGCTGTTATTAAATCTTG ACTATTAAAAATAGAAATTAAAATACTGTTGTGTGGTTTCATTCCATCAT TTTGTAACTCATTTCAGGTAAATTTAAACCACTTTTTTGATAGTCATTTA ACATCTTTTTTTTTTTTTGTAATAGTTTCCGGAGAAAGGTTGCAAAATTA CAGGATTCATTCACTTTTAACAAACACATGAGTGGGAGAGGGTAGGAAAA AAATGAACATTGTGAGGGTGAGTGAGTCATTCACTAAATACAAGTAGGAG GGTCCAGAGAAGAGAGACTTCTCCATGTTTCACTTGTGGGAGGACTTGTG GCCCCATGAATCCCAATTTCTAGCCCTTTCTACTTAATTCTAAACTTTGA TTCAGAACCCACCAGGCCAGCTGTTTATGGAGAATAGTTTTATAAGGGAG GAAGTGCGCAGTGCACAGATTAAAAGAAAAGCAAATTTGAGCTTCCTGAA GCTGGATGCCCATATCTCTCCTAGAACTTGGGAAGTTTTCTGATATGTCT GTAATACCTCAGAGATGTTGAGAGTTTGGTTCCAGACCGCTACAATAAAG CAACTATTGCAATAAAGCAAGTCACACAAACTTTTCATTTTCCCCGGCAT GTAAAACTTATGCTTACAGTATGCAATAGTCTATTAAGTATGCAATAGTA TTGTGTCTAAAAATGTACATACCTTAAATAAAAAATACTTAAAATACTTT ATTGCCAAAAAATGCTAATGATTGTCAGAGCCTTCAGTAATTTGTAATCT TTTTGCTGGTGTAGGTTCTTGTCTCAATGTTGATGGCTGCTTATGGATCA GGGTTGCGGAAGGTTGGGATGGTTGTGGTAATTACTTAAAATAAGACAAC AATGAAGTATCTGCACCTTGTGATACTATTTGATAGCATTTTACTCACAG TAGAACTTCATTCAAAATTGGAGTAAATTCTTTCAAACTCTGTCACTGCT TTATCAGCTAAGTATATATAATAAACTAAATCCTTTGTTGTCATTTGAAC AATGTTTACACCATCTTCACCAAAAGTAGATTCCATCTCAAGAAACCACT TTCTTTCCTTATTCATTAGAAGCAACTTCTCATCCACTCAGGTTTTATGA TAAGATTGCAGTGATTGAGTCATATTGTCAGGCTCCAATTCTAGCTCTCT TGCTTTTTTTGCCACATCTGTAGTTACTTCCTCCACTGAAGTCTTGAACC CCTCAATGTCATCCATGAGGGTTTGAATAAATTTTTTTCAACCCCCTGCT CATGTTGATATTTTGACCTTTTTGCAGAGATCTTGTCTCTGTTATATATA TATATATATATATATATATATATATATATATGTATGGTTTTGTTTTGTTT TGTTTTTTGCAGAGACAAGATCTCACTATGTTGCCCAGGCTGGTCTCAAA CTCCTGGGCTCAAGCAATCCTCTGACCTCAGCCTCCCAAATTACTGGGAT GATAGCTGGGATTATAGGCATGAGCCACCACACCCAGCAAATTACATATA TTCTTAACGACATCTAGAATGGTGAATTTTTCCAGAGAGTTTTCTACTTA CTTTGACCAGATCTATCAGATAAATCACTGTCTATGGCAGCTATAGCCTT ACAAAATGTATTTTTTAAATGATAAGACTTCAAAGTTGAAATGACTCCTT AATCCATGGGCTGCAGAATGGATGTTATATTAGCATATTTAAAAACAACA TTAATATTCTTATATATCTCTATCAGAGCTATTGGGTAACTAAGTGCATT GTAAATGGGAAGTAATATTTTTAAAGCAGTCCTTTTTTCTGGGCAGTAAG TCTCAATGGTCAGCTTAAAATATTCATTAAACTATGTTGTAAACGGATGT ACTGTCATCTAGGCTTTGTTGCTCCATTTACAGAGCACAGAGTAAATTTA GAATAATTCTTAAATTACCTAAGGTTTTCTGATTGGTAAATGACCGTTGG CTTCAACCTAAAGTTACCAGCTGCATTAGCCCCTAATAAGAGAGTCAGGC TTTCCGTTGAAGCTTTGAAGCCAGGCATTGAATTCTCTTATTTGGCTACG AAAGTCCTAGATGGCTTCTTCTTCAAATATAAGGCTGTTTTTTCTCCAAT GAAAATGTTATTTAGTGTAGCCCTCTTCATCCTTCATTTTAGTGAGATCT TCTGGATAACTTGCTACAGCTTCTACGTCAGCACTTGCTGCTTTACCTTG CACTTTAATGATTTAGAGACGGCTTCTTTCCCTAAACCTCATGAAGGAAC CTCTGTTAGCTCCCAACTTTTCTTCTGAAGCTTCCTCGCCCCTCTCAGAA TTGAAGAGAGTTAAGGCCTTGCTCTGAATTAGGCTTTGACTTAAGGGGAT GTTTTGGCTGGTTTGATATTCTATCCCAACCACTCAAACTTTCTCCGTAT CATCAAAATGGCTATTTCGCTTTCTTATCATTTGTGTGTTCACTGGAATA GCATTTTAAATGTCCTTCAAGAGCTATTCCTTTCCATTCACAACTTGGAT AACTGTTGGGCACAAGAGGCTGGTTTCAGTTTTTGACATACCTTCCTCAC TAAGCTTAATCATTTTTAGCTTTTGATTTAAAGTGAGAGACATGAAACTC TTCTTTTCACTTGAAAACTTAGAAGCTATTGTAAGCTTATTAATTGGCCT GATTTCAGTATTCTTGTGTCTCAGGGAATACAGAGGCCCAAGGAAAGGGA GACTAATGGGAGAACAGCTGATTGGTGGAACACTCAGGACAAATGCATCA TTTATCAATTAAGTTTGACCTCTTCTATGGGCGCTGTTTGTGGCACCCCA AAATAATTACAATAGTAACATCAAAGATCACTGATCATAGGACACTATAA CAACTGTAATAATAATAAGTTTGAAATATTCTGAAAATTTTCAAAACGTG CTGCAGAGAAACAAAGTGAGAGCACATGCTGTTGGAAAAATGATGCAGAT AGACTTGCTTGCCACAGGTCTTCAATATGTTAAAAATAAAAACCCAAAAA ACAAAATCTGTGAAGAACAATAAAGCAAAACACAATATAAGGAGGTATGT CTGTGTTTCATTAAACAGGTTTTTGGGTTTTTGGTGCTTTTCTCCATCTC TTCTCCATCTGACATTCTTCTGACGGAAATACCTGTTCACTTATTTATGT CCTGTTAAGTTCCATAGGCTTTATTTTTTCATTTTTTAAAATTGTTATTT TTTTTCTTTGACGGATTATCTTAAAAGCCTTGTCTTCAAGTTCAGAAATT CTTCTGCTTGATCTAGTTTATTTTTTATACTCTCAGTAGTATTTTTTATA TCATTCATTGAATTTTTCAGCTCCAAGATTTCTGTTTGGTTCATTTTAAT GATATATATCTACTTGGGGAGTTTATCATCCA	G G	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03492.hp2 HG03834.hp2 others(10): Show HG02135.hp1 HG03492.hp2 HG03834.hp2 NA18951.hp1 NA18962.hp2 NA18977.hp2 NA18993.hp1 NA19003.hp1 NA19056.hp2 NA19057.hp2 NA19070.hp2 NA19081.hp2 NA19087.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0042	a0001c0002 a0001c0068 a0002c0010 others(5): Show a0001c0002 a0001c0068 a0002c0010 a0002c0011 a0003c0003 a0003c0005 a0004c0004 a0042c0080	a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 others(9): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0068t0005 a0002c0010t0004 a0002c0011t0004 a0003c0003t0002 a0003c0003t0034 a0003c0005t0001 a0003c0005t0002 a0004c0004t0004 a0042c0080t0004	a0001c0002t0001g0156 a0001c0002t0004g0141 a0001c0002t0005g0163 others(10): Show a0001c0002t0001g0156 a0001c0002t0004g0141 a0001c0002t0005g0163 a0001c0068t0005g0160 a0002c0010t0004g0097 a0002c0011t0004g0211 a0003c0003t0002g0067 a0003c0003t0034g0081 a0003c0005t0001g0071 a0003c0005t0002g0085 a0004c0004t0004g0008 a0004c0004t0004g0063 a0042c0080t0004g0088	13	262	0.0496	-4131	c.601 others(21): Show c.6019+20343_6019+24473del	FREM2	ENSG00000150893.11	transcript	ENST00000280481.9	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
IMMP2L_chr7_110657644_111567492	110788328	CAGTCCAC others(4114): Show CAGTCCACATCTTATAATAGCACGTGATGCAGTGGATTTAAGCTAATGTA AATACTTGCTTTTCTTGGCTTCTAGAACACCACTCTCTTAGTAGCACTGG CTACTTATCTCAGTCTTTTTGGATGACTCCTTTTCATCTTCCTGAGCCTG AACATTGAAGTGCTCCAGGGCTCTGTCCTTGGACCTTCTTTTCTTTACTT ATACTCACTCTGCCTCATCCAGCTCCGTGCTTTCAAACAGACAAGTGGCT TCCAAATACATCTGTAGCATAGAACCCTCTTTAATCATATATCCAACTGT TTATTTGACATCTCCACTTAGTCGTCTTATAGATATCACAAATACAACAA TGCCAAAATCGAATTAATTTTGCGCTCCGATGCACACCTGCTATTCTCAC AGCCTTCCCCATGATGGTGGATTGTGTAGTCCAAAGAGGGCTGCCACAAT ATTTCCCATCTTGCTTGCTCTTCTTGCAATGTGACCTTGACATGTCTCCC ATCAAATGGTAGTACATCTGTTTCCTATCCTTGATTCCGTGTGAACCTTT GTGACTGTCTCATTCCATAGAGAATAGTGGAAGTAAAGTTATGTGATGTC TAAGACTAGATCATGAAAATGCAATTCCAATTGGCTCTCTTGGGTCAGTC AGTCTTGGAACTTAGCTGCTGTGCTGTGTGGAAGTCCAAACTCACTTGCC TGGAAAGACGACCTGGGGAAGCTGTGTGTAGGTGTTCCAGCTGACAAACT AGCTGAAGTCCTAACTAAAAGCAAACATCAATTGCCAGACATGTGAATGA AGACACTTCCAGATAATTCCAGTCTCTCACCACTGAGTGAACCCCAGGCT TTGGGTCTTCCCAACCAAGGCTTTAGATATTGTCGAATAGAGGGAACAGA CAAGATGCCCCTGCTGTGTCCCATTTGAATTTCTAACCTATCAAACATGT GAGTAAAATAACATGGCTGTTTTATGACACTAAGTTTGTTATGATGATGG TAAATGGAACAGATTTACCAGTTGCTCAGAACAACTTGTACTCATCTTTA GCTTCTCCCTGTTTCTCATACCCACCTTAAATCTGTTAGCAAACCCTATG AAGTCCAGCTCTTTCTTTGAAATACATCCAGGATCCTACGACTTCATACC ATCATATCTTTTGTCTGGACTATTGCAGTAGCCTCTTAGCCTTCATGTTT TCACCTTCCCTCCCTTATTGTCTACTCTCAACACAATAGAAAGAGTACTT CTCTAAAAGTATAAATCAGTTATGTCACTTCAATGCTCAAAACTGTCCAA TGGCTTCCTTTATGATATAGATTAAAAGCTTAAGTCCTTAATGGCCTAGA AGGCCCTTCATCCTCTGAGCCTCCACCACCTCACTGACCTTATTTCCTAC CGTCCTCCCTGCCTGACATGTTACATCCTAGGCATACTGGTGCCCTTGCT CTTCCCTAAAAACACCTGGCACACTCATACCTCAGGGCCTTTGCATTTTC TATTCCTTCTCCCTGGAATGTACTTACCCCAAATATTTATGTGGCCACTC TTTCATTTCCTCCAGGCTTCTACTCATGAGTCACTTTGTTAGGTATTCTC TAAACACTTTCCATAAAGTAGCACATCTTATGCCCATGGATCTTATTCTT CTAATTTTGACTTACCATTACCTGAGTCCTTATACATTTGTTAATTTATG TTCTGTCATCCTCCTGTAGGATGAAAGCTTGCTAAGGATATAAACTTTGT CTTGTTGAAAGCTCTAGTCACTGGGCCTACAGTAGTCTCTAGTGCATAGC TCCATAAATATTCCTTATTGTTAAAGGCCATACAAGCAGAGGGGAGAACA AGTAGAAAGGGCTGAAACAGAAACCAGCCTGACTTGCTTGAGAAACAGTA TAACTGGGACAGAATGAAAATGGGGGAGAGTGTATGTGACAAGGTCACAG AGGTAGCCAAAGGTTGGATCATGTAGGTCTTCAGAGGCTAAGGCAAAGAC TGATGGAAAGAAACTGAAGGGCATTTGATGTGATCTGAGTGGCATTTTTA AAAGATTATTCTGGATTTTCTGTGGATAATTGTCTATATGAAGAGCAAGA GAGGAAGAAGCATCAAGGGGACCAGTCCAGAGGCTTTTGCAGTAATTCAG ACAAACAAGAGATCATGGTGGCTTGAACTGCAATGGTAATGACAGAGGTA CCTAAGGTGGTCAGATACAGGATGTATCTACTTTTCAACGTAGAGCTGAA CAGACATGATAGCTTGGTTATAAGACAATGAGAGTAATCAAGGATGGGTT CCAGATTTTTGGCCTGAGCAAATGGTTAAACAGTGGTACAGTGGGGCCAC TTCGGAGTAGGTTTACTTTAAACAAGGGTCCTATTTTAATATGATGAATT CAGAGCCGGCAAGCAAGTCCCAGAGCAATGTTCAATTGTACTATGGTTTA GTCAAACTAAAGTTCCAAAATTCAGTGAGTAAATTCTTTGATTCTCAGAA TGTCTGGGCACTGAACACAGTAGCTGAATTTGAATAAAAATATGCAAAGA GACCAATAATGACACCTCACATAAGAAATACCTATGTGTGCCACTGTCTT GGAGAAGCACCCCTGACACCTGCACATACAGATGGCCTAACTGGGCACCC TGAAAACTGACAGACTTGGTATTTGGCAGGTGAACCATCAAGAAAATTCC ATAAACACAAACTTCTGCCCATGAAAACATAGCTCTTCATAACATTTACA GATACTGGGGGGAAAAAATCACACTAAAAATCACAGTGAAAGGCTAAACA CCACCACTCAAGTAAAGAATGAAGTACTTGCATGCCTTTCTCCCAACATG CACATAATAGAAAAAGAATTTGTAAGACAGTTGATGACTAGGATCATTAT GGAATGTAAAATAATGAAACATTGTAAGTATAGCTCTTAGGGAGCAGCCT TTAAAATGGGTTCCACTGGCTTGGTGCTATCCAAGCAGAAAAGGCAAGCT TACCTGACTATCTCTACTCTTCCATAAGCCAATAACCCTTTAAACATATT TGTCACTCAGTCTCTTTAAAATATTTTGCCAGGGATTTTTCTTACCCTCT CCCCTAAGGGCAGAAATGAGAACTATTACTGTGTTATCTTTAATGATAAT TATTCTGACATACATATATTTTAACATATGAATCCTTTAGATTTTTATCC TACCCATTTTTGAGATTTTCAGGGACCAGTAAGCAAAACAATATTCCTCT TTCTCTCCTAATTTGGAACCAACTGTGTGATGGATAAATAAAAGATCAAA ATGCCAGCTTTATTACTAATAAAGTTGATCAAAGAACATGACTCAGAGGT ACCACCACAGTAAGCCCCCTAATACCTTCTAATACTCCTGAATTTAACAA TTGCCAGATGCTCTCTGAGAGGAGACCCTAGCCTGAAAGCTCACTGAATA CAGAAGCAGAGAATGTGTCCAGCAGACAGGAGCCAGAAGGATGATCTGAG CACCATCATTTCCTTCTCTGAAACTCAACTATCAGAGAAGTCACTCCTCC TGCCCTGGAAAGGGCAAATGATGAGGTGGAGAGAAGCAGGGGCATGTCTT CCTCACATGGTTTTCCCTCCTGGAGAGCAGAGTAGAAATGATCTCCCTCT ATGAGAACATGGAGTTGAGAATAAATATTCTTGCATCTTACCCTTCAAAG TTGGGCAAGGGAACTAATTTTATCTACAGTCAGAGAACTGGATTTCTACC TATCATCTATGTACACTTCATTTTTTCATTATTCCTTATATACATGAATG AGGTAGCTGGTGGCTATTGGGCACAGAGAGAGGCAGACAGGTTTGACACG TGCACCCTCTACCCTTAGCTTGTTGAATTTAGCTAATAATCTAACTTCTC AGAATCTAATTTTCTTACATGAAAAGGGATTATACATACTTACCTCCTAG AGTTAGAATTAAATGGAAATAAATGTGAAAGGACTGGCATACAGGTACTG AGTTGATACCATTTTTTTCCCTTCTCTAAGTCTTATTCAGTACTAGTTTA GAAATTAAAATCTGTATGAAATCAAACCCTGTAAGTTTTTTCCAGACCCT GCCACTTGGTTGATCTCTTGAT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0043 a0001c0001t0004g0043	1	84	0.0119	-4121	c.408 others(19): Show c.408+94144_408+98264del	IMMP2L	ENSG00000184903.10	transcript	ENST00000405709.7	protein_coding	5/5			chr7	TogoVar
DLGAP2_chr8_732628_1713476	1395658	GTATTGAG others(4110): Show GTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTAT TGAGTGCTTACTGAGTGCCACCTCCTCATCCTCCTGAGTCGTGTATTGAG TGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCT TACTGAGCGCTCCCTCGTCATCCTCCTGAGTCGTGTATTGAGTGCTTACT GAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGC GCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTC CCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTC CTCGTTCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCCTCATCCTCCAG GGTAGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCGTCCTCCAGAGTC GTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGT ATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTG AGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCTGAGTCGTGTATTGAGTG CTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTA CTGAGCGCTCCCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGA GCGCCACTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCC ACCTCCTTGTCCTCCAGAGTCGTGTATTGAGAGCTTACTGAGCGCTCCCT CCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTT GTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCC TCCAGAGTCGTGTATTGAGAACTTACTGAGCGCCACCTCCTCGTCCTCCA GAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGT CGTGTATTGAGAACTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTG TATTGACGGACCTTTGCCAGGTGATGGCACAGTAGTGATGCTCATGGGCT GTGTTCTTTCTTCGGGATAATTGCAGCTTGAAACTCCTGGGCATCTGTGA TTGGACTTTGGCAAAGTGAATGTATGTGTGTTGGAATGGGGCGTGTGTCT TTGTTAAATGTGACGTTTCTGTTTTTTTTTTGAGACGGAGTCTCTGTGAC TCTTTTTTTACAACTATTCCCCCCAAATGGAGACAGATCAGTTTTGCTCT AAATGTGAATCCGAGGCCTCAGGAAGGCATTCGAGGTTTTCAGAACCTCC TTGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGT CCTCCAGAGTCGTGCATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTC CAGGGTAGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCGTCCTCCAGA GTCGTGTATTGAGTGCTTACTGAGCGCTGCCTCCTCATCCTCCTGAGTCG AGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTA TTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGA GTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGC TTACTGAGCGCTCCCTCCTTGTCCTCTGGAGTCGTGTATTGAGTGCTTAC TGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAG CGCCACCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCC ACCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCT CCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTC GTCCTCCAAAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCC TCCAGAGTCGTGTATTGATGTTTTTACTGAGCGTATCTCTTCATCCTCTC TTGAGTTGTTATTGATGCGCTTACTGAGCTCTCCCCCTCTTGTCTCCGGA TTCTGTTTTTTCACTGCTTATTTTGTCTTTCCTTCTTCCCTTTTTTAGGT GACTGGACTTTGGCAAAGTGAATGTATGTGTGTTGGAATGGGGCGTGTGT CTTTGTTAAATGTGACGTTTCTGTTTTTTTTTTGAGACGGAGTCTCTGTG ACTCTTTTTTTACAACTATTCCCCCCAAATGGAGACAGATCAGTTTTGCT CTAAATGTGAATCCGAGGCCTCAGGAAGGCATTCGAGGTTTTCAGAACCT CCTTGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTC GTCCTCCAGAGTCGTGCATTGAGTGCTTACTGAGCGCCACCTCCTCGTCC TCCAGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCGTCCTCCA GAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGT CGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTG TATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATT GAGTGCTTACTGAGTGCCACCTCCTCATCCTCCGGAGTCGTGTATTGAGT GCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTT ACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTG AGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCG CCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCC CTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCC TCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCAT CCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTC CTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGA GTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCATCCTCCTGAGTCG TGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTA TTGAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATTGA GTGCTTACTGAGCGCCACCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGC TTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTAC TGAGTGCCACCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAG TGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCT CCCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCT CCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTC GTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCC TCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCA GAGTCGTGTATTGAGTGCTTACTGAGCGCTACCTCCTCGTCCTCCAGAGT CGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCTGAGTCGTG TATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCTGAGTCGTGTATT GAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGT GCTTACTGAGCGCCACCTCCTCGTCCTCCAAAGTCGTGTATTGAGTGCTT ACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTG AGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGAACTTACTGAGCG CTCCCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGTGCCAC CTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCACTCCCTCC TTGTCCTCCGGAGTCGTA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp1 HG03486.hp1 HG02922.hp2 HG02976.hp1 HG03486.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0005 a0002c0001t0019 a0002c0001t0002 a0002c0001t0005 a0002c0001t0019	a0002c0001t0002g0032 a0002c0001t0005g0035 a0002c0001t0019g0030 a0002c0001t0002g0032 a0002c0001t0005g0035 a0002c0001t0019g0030	3	40	0.0750	-4117	c.107 others(21): Show c.107-105686_107-101570del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar

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