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
SPATA21_chr1_16393643_16442424	16424661	ACCTCAGC others(3955): Show ACCTCAGCCTCCCAAAGTGCTGGGATTACAAGCACGAGCCACGGCGCCTG GCCTCTAATCATATCTTGCAAAATCTTACAAAGGCTCAGCAGCTAGTAAA CTGCTTCCAGGATATCCTAGCATACAGAAACCTGTTTCAGCTTTGTTAAA CTCAGCATGTCCCAATATTATCTGTATACAGAACCTGGCACCTCCTCCCT CCCCCCTGCACCCATTGACATACCGTGGGGCCACTCTGGAAACAAGACTT ATTTTTATTTTATTTTTATTTTTTTGAGACGGAGTTTTGCTCTCATTGCC CTGGTTGGAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCACCTCC CGTGTTCAAGCAATTCTCCTGCCTCGGCCTCTTGAGTAGCTGGGATTACA GGCATGTGCCACCACACCCGGCTAATTTTATATTTTTTAGTAGAGACAGG GTTTTACCATGTTGGCCAGGCTGGTCTTGACCTCAGGTGATCTGCCTCCT TCGGCCTCCAGAAGTGCTGGGATTAACAGGCGTGAGCCACCATGCCCGGC CTGGAAACAAGACTTAAATGCTTGTGATGTAGGCTGGGGGAATAGCCCAG TGACCCACAGACTGAGTGCTTGACATCTTCAGGGCACAGAGGTGAGCAAA CATTCTGTCACCCAGGCTGGAGTGCAGTGGCCTGAACATAGCTCATTGTA GCCTTGACCTCCTGGGCTCAAGGGATCACCCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGATACATGCACCAGAATGGGGGGCATGATAGGAGGGG GGCTCTTTCACCTCCTCTGTGGTAGGTCATTCCATACCCTTCTCCCCAGA TCTCCTAGGTTACCTGGCAGCTCTCAGGAGGCTGATCCTCCCCGATTCCC CGGTTCCGTTGCCTCCCCTGCTGGCCCTTGATCTCCTTTCCGGAGCCCAG CTGCTGCAGCCCTTCAGGTACTTCAGGAACCCAGGAAGGCAGCAACCCCA GCTCACTCTGATCCTGGCCTGCTTGCAGCTCCTGGGACCCTTCCTGGGGG ACCCAAGAGGGCTGTTTCTTCCTGGGGAAAATAGACAAAGTGACACTTTA GCTCCCAGACTGGGGCACTGTTTTATATATTTTTACAGGGCTAGGCATAC CATAGGTGCATAGCTAACGCCTGGAAGGACCAATGAAGGACTCACAGGAA TTCCCCAAATCATAGACACTTTGATGTCAATGTTTGGGGGAGTTAAAATT TAAACTTTCACAATTATTTGTAGAGACAAGGTCTCTCTGTGTTGCCCAGG CTGGTCTTGAACTCCTGGGCTCAAGCAATCTTCGACCTCGGCCTCCCAAA GTGCTGGGATTAGAGGTACGTGCCATTGCATCCAGCCTAGAATTTAAGTT TTATAGTATTTTTAAACTGTTTTTCAGAAAAAAATGAAACAAAAATCAGA ACTGGGATGCAGAGAGGACAAGAGATTTGAGCCTAAGGTCATAAAGCTAA AGATAACTGTTCAAAATTTGAAGCTGTGTCTATCCGATCTCACTTTAGTA TTCTGGAGTATTTCCTCCAAGCTTCTTCCTATGCGTATGCATACTTATTT ATTTATTTATTTATTTGAGACAGAGTCTTGCTCTGTCACCCAGGTTCGAG TGTAGTGGCATGATCTCAGCTCACTGCAACCTCCACTTCCTGGGCTCAAG CAATCCTCCCGCCTTAGCCTCCCAAGTAGCTGGGACTACAGGCATATGCC ACCATGCCTGGCCAATCTTCATATTTTTTGTAGAGATGGGGTTTCACCAT GTTGTCCAGGTTGGTCTTGAACTCCTGGGCTTAAGTGATCCGCCAACCTC AACTTCCCAAAGTGTTGAGATTACAGGCGTGAACCATGGTGCCCGGCTAT ATATATATATATATATATATTTTTTTTTTTTTTTTTTGAGACAGAATTTT GCTCTTGTTGCCCAGGCTGGAGTGCAGTGGAGTGATCTTGGCTCACTGCA ACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGATTACAGGCATGTGCCACCATGCCCAGCTAGTTTTATATTTTTA GTAGAGATGGGGTTTTGCCATGTTGGCCAGACTGGTTTTAAACCCCTGAC CTCAGGTAATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTG TGAGCCACTGTGCCCGGCCTAATGTACTTTTTTCAATTAACATCATAGCC TGTGTTTTTCGCATGCTAAAAATCCTTCAGAAACATGCTTTATATGTTTT CTTATGTTCATTAAATGTATAAAATTCCATATTTTAAAGATAACCATCAT TAACCATTTCCCTATTGTGTGGGCGCTTAAGGGGTTTCTAATTTTTTAGT ATTTAAGATAATGTGACAGTGAAAGTCTTTGTGCATAAAACTGCTTGAAT CACCAATTATTTCCTCATGGCCTATTTCCAGAAATGGGTGAGGATAAAGG GAGTTTCAAGGCAGTTTAAACAAATTGCCACGTTGATGAAACAGGTATGC TTAAATGGTTTCTATTTCCACCGGCATGGTATGCAGTAGTTGTCTCAGTG GGCCTCGGACCTGGCTTGAGTTGTCTCTCCTAACTTTTCTTGTAGAGGAG GCTATTTAGGAGCTTCTGGTTATAGTCAAATCCAACTAAGCCAGCTAGTC TTTACTATTTCTATTATCCCAGCCTTTCACTTTGCCTCTATCTGGCTCGC TCTTGATTTTCTCTTTTTGAATACATTCTTGCTGTAGAAAAGTTTTAAAA AAACACAAAATTTAGAAAACAATTACGTGTACATCTTTACATGTTCCTGT GTCTCCTAACCTTTTTTTGTTCATTATTCTATTAATTCAGTGAATCAATA TTTATCGAACATTTACTATGTGTCAGGCATAGTACTAGGCATGAGGGCTT TGAGGTTGAACCAGGTATATGATGCTCCTCAAACAAGACACATAAAAGAT GTTTGTGGTCTCGTTGGGGGAGTTCAGACAAAAGGTTAACATGAACTCTT TAGTGCAACTGGTGCAATGAAAGAGAAGGACAAGGTGCTGTCGTGGGTGG AGCTGCCTTGGCCTGGGAGTTCTCCATTCTCTCTCTCTCCCCCGCGGGTG GGCTACAGGGGGTTCTCTCTTGGACCTGTTCTCTCGAGAGCCCCTCAGCT CACCCTGGTCTTGCTGGAGGCCCCTGCTCCTGGATTCTGAGCTCTGAAGG CCCCTTCTCAAATGCATCTCTGAGTCTGGGCCCCTTCTCTGGCCCTCGTG AAGCTGATGAGAGGTGCTTCTTGCTGCCCACTTCCGAAGCATCCGGAAAC ATGACCTGGACAGAGATATCCATGGCAGTGGCTTGAGGGCTGGCATTGAG TACCCGTTCTGGAGTGATCCCTCCCACTCCTCCCTGGGTACTCTTCTGGC CTCAAGGACAGGGAGATCCTGTGCCTGATTGGGGAAGCTGTTGGAGAGGG GTGAGCAGGAGCTGAGAGGCAGGGATGCAGGGCCCGGCCCTGCTGTTGCT GTTGCTTAGCACGTAAGGCTCTGGTATGAACTGGAGTCCAGATTAGTACC CGAGACAAGGGGATTGCCTTAAGGACAGCTTGAAAGAGCACCCTGGGGGA CCCCAAGACTCTCACAAGGTCCAAGAGACGCCTTCAACAATTCCCATGCC TTCAAAACGCAGGCTCTAGTTTGAACTGAGTTTTTATTTCATTTTTTGAG AGAGAGTTTCCCTCCTTTGCCCAGGCTGGAGTGCAGTGGCACAGTCTCGG CTCACTGCAACTTCCACCTGCTGGGTTCAAGCGATTCTTGTGCCTCAGCT TCCCGAGTAGGTGGGATTACAGGTGTGCGCCACCATGCCCAACTAATTTT TTTTTTTTATTTTTTTTGTAGGCCAGGCTGGTCTCGAACTTCTGACCTCA AGTGATCCGTCTG	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02074.hp1 HG02155.hp2 others(1): Show HG02071.hp1 HG02074.hp1 HG02155.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 others(1): Show a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083	4	350	0.0114	-3962	c.34+ others(15): Show c.34+2715_35-2691del	SPATA21	ENSG00000187144.11	transcript	ENST00000335496.5	protein_coding	3/12			chr1	TogoVar
TMEM132D_chr12_129066726_129909025	129573768	GATAACAG others(3954): Show GATAACAGTGTCTTCCACATGCAACTACATGGATGAGTCTCAGGATATTC CGTGTGAAAGAAGTGTTACACAGAAGCGTGGATATTGTATCCTTCCATTT ATAAAAAACTCTAGAAAAGGCAAATCTACTCTAGGATGGAAAAAAAAAGA GCAATAATTTCCTCTGGTTACCTAAGGATGGGAACTGATGAAGGAGATGC ATAGAGGAACTCTATGGGGCCCGGGTGATGATCTTTGTCTCAATCAGAGC TTGCATGTGTTGGAACTCATCAATTGGTACATTTAAGATGTCTGCATTTC ATTGTGTGTAACGTTTACAATAAGAGGAACAAACATTAAACTCGAATTAG TGAGAGGCATGCTGAGATAGTTGGGTAGAGTATATTTATGCTTGCATCTT ACTTTGAAATACATCAAAAGTAAGATGGATTAATAGATGCAAGAAGGATG AACAGATTGATAGATATGTGATAAAGCAGACATGGTTTAAATGTTAATTA TAGAATCTAGGTGATGGGTATATGGGTGTTAAGTGTAAAATCTGATAAAC ATGACTGCACGTCTAAAACATTTTGTAATAAACTATTGGGGGATATATAC ATGCTGGGTTTCCTCTATTCTGAATCAGAATCTTTGGGAATATTAAAACC CTAAAAGTCAAAAAACAATTAGAGAGCAAAGGCATCCTATGCACTAGAAT TTGAATTTCTATTTTGACTAGGGGCGAAATGATGCTACATTAGCCAGAGC AGCGATTGTGTGCAGAGCAAAATGCATTTCACGTTTTCGTGTTTATTGAG TTGTTGAACAATGGTTAGGAGCACAGGGGTGAGATGTTATGAATGCCCTT CTGAGTGGAGAGAAAGCTGAAACTCAGAGAAGAAAGGTGAGGTATCCAGG CTCACATAAGCCGTCAGCATCCACAGCGAGATGAAAACCCGAGAATATAG CTCAGGGCTTTTTCACAATATCACGGTGGGTCCCACACATGAACAACTGG GAAATCTAAGGTTTGCTGCGCCCCTCAGTGTTCTCAGATATCAAATGACA GGTGATGCAATACAAAATAAAGTCAATGAGAAAGACCTCCAACTAAGGAA GCAGCCAGGTCAAAATGATGGAAGTTCAGAAGCAGCCGGATTGCCAGGGA AAAGGAGATGCAGATGCCCGAAACTCCACCAAACACTCTTCCTGCTTGCA GAGACGCAGCCAGAGCAACAATGCAGTCAACGCTCCTAAGGAAGGCAGCT CACTCTCTCATCGGATCTGCTTGGCGCTACATATGGAGTCTAAGAAGACC CTCTTACCACCTGGAACACATGAAGATGCTTTGCAGAAGGATAGTGGAAT GTAGGCCCTCAATCCCCTAGACCCTTTCTTATGATTTTCCGAGCGTTCTC TTTTCTCTAGCTTACTTGATTCTAAGAATACAGTATCTAATACATATAAC ATACAAAATATGTTAACTGGCTGTTTTTGTTACTGGTGAGGCTACCCATC AACAGTAGGCTATTAGTAATTAAGTTTTGGAGGAGTCAAAAGTCATTCCG CCGGTCCTGCTCAGCTTGGCTGATGGCACCTGCGTTATTATGGCTCCCCA GCGGCTGTCTGCTGAAATAATTTATTGCCACTCGCTTGCATGCTGGTGTT AGACATCTCTCACTAAATAATGTGAAGATATCCTTGACTGCAATGGTCAA ACCTGAAGTGATTACCGGGGCCGGTTGGTAAGGTAAACAAACCGGGTATC AAAGAGAAGGCAGTGAGCGCTGCGTCCATGTGCCAGACTGAGAAGTCCTG CCTTGCTAAAATCCGTAAATGCCAGAAAGCTCAGACCAATTGCTACCAAG GAGAAACGCGGGCCTAGTGGTCAGATTGGACTTTTTAATGAAAGACAAAA ATTCCGTTTTTCTGGAATGAATTTTTTCTGGAATGAAACCTGTAGATTTG TGGATGGTTAATTCAATTATGTCTGCAGATAGATACATTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCA CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCCAGATAGATACATTTTAAGTATTTTCCAGGCCAGTCCTCACATG TGGGAGCCAATTTCGGCCCATGCGTCTTTGCATGCAAGCTCCGCTTTCTC TTTGCATACCCTCTACCTACACTGACCATCTCCGCGATAATGCTGCCCGA AAAATTAACTCCAAATGGTGTGGGTTGAAACTGTAGCAATTTCTTCTTAA GTGTTGCTTGGGTTTTTCTTACTATAACGTTTTACAATTAATAATTATCT GGATTTGTAATTAAAATAGATTCACAGAATGAGCTCCATGAAAATGGTGA CTGTATCAGGGTTCTCCAGAGAAACAGAACAACAGAATATATATATGTAT ATATTTGTATATGTGTGTCTATAAGTATGTGTATAGGTGTGTATAAACAT ATATGCATACATATGTGTACATATATCTGTTTACATAAATATATACACAT ATATGTGTACATATATCTGTTTACATAAATATATACACATATATATGTGT AGGTGTAGCTACACAAATATGTGGAATACATATTATACACACACACACAC ACATATATATGCAGTTGACTTGAAACAGCTCAGAGGTTAGGGGTGCCAAC CCAAACTCCCCACATTCAAAAATCTGTGAATAACTTCTGACTCCTCCAAA ACTTAATTACTAATAGCCTACTGTTGATGGGTAGCCTCACCAGTAACAAA AACAGCCAATTAACATATTTTGTATGTTATATGTATTAGATACTGTATTC TTAGAATCAAGTAGGCTAGAGAAAAGAGAACGCTCGGAAAATCATAAGAA AGAGAAAACACATTTCCAGCACTTTGCAGTATTTATCGATACTGTACGTT TGTGTCGTTTGTTTACAAGATGAATTGTCTGTCTGAAATAGTGGCAACCA TGGCTGCAGACCTCAGTCTACAGCACATCCCAAGCAGTTCACCTTTCTCT TGCAATGTCATAACTTTTCTCTGCTTCTTGGAAGCACTTCCAGCATCACT AGTGGCACTCTGTATGGGCCCCATGGTGTCACCGAAGGTTTACAGTATTG CACTAAACACAACGAAAAATACTTGAGAACCACTAGAGATCACTTTTTAT TGTGATATGCAATTTACTGGAGATGAACTGCCCATGCCAAGATGGCTAGC AGCACACAGGGATTTAAGCAGATACTCACAACTCTCAGGCTTGCCAAAAC AGCAGCAGGAGGCACCCACAAAATTACTACAGTAGTGCAGTGTATGCTGC AGTTAACTTTATGCAGTTGTGATATGTATTTCTATGTATATCCTCTTGGT TCTGTTTTTCTAGAGAACCTTGAAATACATACAATTATATATATATAATT ATATAAATATATATCTATATTTATATAAATAAAATAGAAATATTCAACAC TGCATCTTTACATTTGTTTACATTTCTTTTGACTATAAATGACACTGTGA AGGTCTGCCAGTGTATGCAAAAGTTTTGATAAATGTTGACTTTTTATATT AGATTTGTATAATTTTGTGGCAGTAAATACTGAAAAGAGACTAGTATCTG CATATATTATTTGCATTCATGACATACCTAACGTTCAGTTTTTGATATTT GCAGGCCACAAGGTTCATGCGCAACTTTTTTCAATTTGTCTCAAATGTTC AAAAAATTTCCA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	92	0.0109	-3961	c.969 others(19): Show c.969-46524_969-42564del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	2/8			chr12	TogoVar
IL3RA_chrX_1331785_1387689	1369427	CGTCTCCA others(3952): Show CGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCACTGCCCACA CCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTT TTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGAT GGACTAAGCCATCTCATAAGAAGAGACGAGGACACAGACACACACAGAGG GATGACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAG AGGGGCCTCAGGAGGAACCAGCACTGCCCACACCTGGATCTCAGACCTCC AGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCA GCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATCTCATA AGAAGAGGAGATGAGGACACAGACACACACAGAGGGATGACCCTGTGAGG GCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGG AACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGT GGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTG TGACAGCAGCCTGAGATGGACTAAGCCATCTCATAAGAAGAGACGAGGAC ACAGACACACACAGAGGGACGACCCTGTGAGGACACAGGGAGAAGACGGC GTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCACTGCCCACAC CTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAGTGTTTTG TTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGA CTAAGCCATCTCATAAGAAGAGACGAGGACACAGACACACACAGAGGGAC GACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGG GGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGC CTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCC TCTGGTATTCTGTGACAGCAGCCTGAGATGGAGTAAGACATCTCATAAGA AGAGGAGATGAGGACACAGACACACACAGAGGGACGACCCTGTGGGACAC AGGGAGAAGACGGGGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACC AGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGA GAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGAC AGCAGCCTGAGATGGACTAAGCCATCTCATAAGAAGAGACGAGGACACAG ACACACAGAGAGGGACGACCCTGTGAGGACACAGGGAGAAGACGGCATCT CCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCACTGCCCACACCTGG ATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTT TCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACT AAGACATCTCATAAGAAGAGGAGATGAGGACACAGACACACACAGAGGGA CGACCCTGTGAGGACACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAG GGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAG CCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGC CTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGCCATCTCATAAG AAGAGACGAGGACACAGACACACACAGAGGGACGACCCTGTGAGGGCACA GGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCA GCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAG AATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACA GCAGCCTGAGATGGACTAAGCCATCTCATAAGAAGAGACGAGGACACAGA CACACACAGAGGGACGACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTC CAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGA TCTCAGAACTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTT CTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTA AGACATCTCATAAGAAGAGGACATGAGGACACAGACACACACAGAGGGAC GACCCTGTGGGACACAGGGAGAAGACGGGGTCTCCAAGCCCAGGAGAGGG GCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCC TCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCT CTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATCTCATAAGAA GAGGAGATGAGGACACAGACACACACAGAGGGACGACCCTGTGGGACACA GGGAGAAGACGGGGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCA GCCCTGCCCACACCTGGATCTCAGAACTCCAGCCTCCAGGGCTGTGGGAG AATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACA GCAGCCTGAGATGGACTAAGACATCTCATAAGAAGAGGAGATGAGGACAC AGACACACACAGAGGGACGACCCTGTGAGGACACAGGGAGAAGACGGCGT CTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCT GGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTG TTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGA CTAAGCCATCTCATAAGAAGAGACGAGGACACAGACACACACAGAGGGAC GACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGG GGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGC CTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCC TCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGCCATCTCATAAGA AGAGACGAGGACACAGACACACACAGAGGGACGACCCTGTGAGGGCACAG GGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAG CCCTGCCCACACCTGGATCTCAGAACTCCAGCCTCCAGGGCTGTGGGAGA ATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAG CAGCCTGAGATGGACTAAGACATCTCATAAGAAGAGGACATGAGGACACA GACACACACAGAGGGACGACCCTGTGGGACACAGGGAGAAGACGGGGTCT CCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGG ATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTT TCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACT AAGACATCTCATAAGAAGAGGAGATGAGGACACAGACACACACAGAGGGA CGACCCTGTGGGACACAGGGAGAAGACGGGGTCTCCAAGCCCAGGAGAGG GGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGAACTCCAGC CTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCC TCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATCTCATAAGA AGAGGACATGAGGACACAGACACACACAGAGGGACGACCCTGTGGGACAC AGAAGACGGG	C C	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0076 a0001c0001t0004g0076	1	113	0.0088	-3959	c.874 others(17): Show c.874+4215_875-5234del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1372331	TAAGCCGC others(3952): Show TAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAA GCCATCTCATAAGAAGAGACGAGGACACAGACACACACAGAGGGACGACC CTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCC TCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCC AGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTG GTATTCTGTGACAGCAGCCTGAGATGGACTAAGCCATCTCATAAGAAGAG ACGAGGACACAGACACACACAGAGGGACGACCCTGTGAGGGCACAGGGAG AAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCT GCCCACACCTGGATCTCAGAACTCCAGCCTCCAGGGCTGTGGGAGAATCA ATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGC CTGAGATGGACTAAGACATCTCATAAGAAGAGGACATGAGGACACAGACA CACACAGAGGGACGACCCTGTGGGACACAGGGAGAAGACGGGGTCTCCAA GCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCT CAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTA AGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGA CATCTCATAAGAAGAGGAGATGAGGACACAGACACACACAGAGGGACGAC CCTGTGGGACACAGGGAGAAGACGGGGTCTCCAAGCCCAGGAGAGGGGCC TCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGAACTCCAGCCTCC AGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTG GTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATCTCATAAGAAGAG GACATGAGGACACAGACACACACAGAGGGACGACCCTGTGGGACACAGAA GACGGGGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGC CCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAAT GTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCT GAGATGGACTAAGACATCTCATAAGAAGAGGACATGAGGACACAGACACA CACAGAGGGACGACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAG CCCAGGAGAGAGGCCTCAGGAGGAACCAGCCTTGCCCACACCTGGATCTC AGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAA GCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGAC ACCTCATAAGAAGAGGAGATGAGGACACAGACACACACGGAGGAACAACC CTGTGAGGACACAGGGAGAAGACGGCATCTCCAAGCCCAGGAGAGAGGCC TCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCC AGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTG GTATTCTGTGACAGCAGCCTGAAACGGACTAAGACATCCCATAAAAAGGA GATGAGGACACAGACACACACGGAGGGACGACCCTGTGGGACACAGGGAG AAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCACT GCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCA ATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGC CTGAGATGGACTAAGCCATCTCATAAGAAGAGACGAGGACACAGACACAC ACAGAGGGATGACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGC CCAGGAGAGGGGCCTCAGGAGGAACCAGCACTGCCCACACCTGGATCTCA GACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAG CCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACA TCTCATAAGAAGAGGAGATGAGGACACAGACACACACAGAGGGACGACCC TGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCT CAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCA GGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGG TATTCTGTGACAGCAGCCTGAGATGGACTAAGCCATCTCATAAGAAGAGA CGAGGACACAGACACACACAGAGGGACGACCCTGTGAGGACACAGGGAGA AGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCACTG CCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAA TGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCC TGAGATGGACTAAGCCATCTCATAAGAAGAGACGAGGACACAGACACACA CAGAGGGACGACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCC CAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAG ACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGC CGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGAGTAAGACAT CTCATAAGAAGAGGAGATGAGGACACAGACACACACAGAGGGACGACCCT GTGGGACACAGGGAGAAGACGGGGTCTCCAAGCCCAGGAGAGGGGCCTCA GGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGG GCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTA TTCTGTGACAGCAGCCTGAGATGGACTAAGCCATCTCATAAGAAGAGACG AGGACACAGACACACACAGAGGGACGACCCTGTGAGGGCACAGGGAGAAG ACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCC CACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATG TGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTG AGATGGACTAAGACATCTCATAAGAAGAGGACATGAGGACACAGACACAC ACAGAGGGACGACCCTGTGGGACACAGGGAGAAGACGGGGTCTCCAAGCC CAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAG ACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGC CGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACAT CTCATAAGAAGAGGAGATGAGGACACAGACACACACAGAGGGACGACCCT GTGGGACACAGGGAGAAGACGGGGTCTCCAAGCCCAGGAGAGGGGCCTCA GGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGG GCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTA TTCTGTGACAGCAGCCTGAGATGGACTAAGACATCTCATAAGAAGAGGAC ATGAGGACACAGACACACACAGAGGGACGACCCTGTGGGACACAGAAGAC GGGGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCA CACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTG TTTTGTTTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00558.hp1 others(29): Show HG00099.hp1 HG00140.hp1 HG00558.hp1 HG01123.hp1 HG01192.hp2 HG01256.hp2 HG01975.hp2 HG02004.hp1 HG02004.hp2 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02602.hp2 HG02886.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03710.hp1 HG04115.hp2 HG04228.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA20300.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0003c0004 others(1): Show a0001c0001 a0001c0003 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0003t0004 a0003c0004t0007 a0004c0005t0003	a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0100 others(29): Show a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0002g0031 a0001c0001t0002g0067 a0001c0001t0003g0023 a0001c0001t0003g0026 a0001c0001t0003g0079 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0094 a0001c0001t0003g0106 a0001c0001t0003g0113 a0001c0001t0004g0039 a0001c0001t0004g0052 a0001c0001t0004g0054 a0001c0001t0004g0063 a0001c0001t0004g0064 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0092 a0001c0001t0007g0097 a0001c0001t0010g0090 a0001c0001t0011g0091 a0001c0001t0012g0096 a0001c0003t0004g0070 a0003c0004t0007g0093 a0004c0005t0003g0022	32	113	0.2832	-3959	c.875 others(17): Show c.875-6277_875-2319del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1369419	GAAGACGG others(3951): Show GAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCAC TGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATC AATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAG CCTGAGATGGACTAAGCCATCTCATAAGAAGAGACGAGGACACAGACACA CACAGAGGGATGACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAG CCCAGGAGAGGGGCCTCAGGAGGAACCAGCACTGCCCACACCTGGATCTC AGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAA GCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGAC ATCTCATAAGAAGAGGAGATGAGGACACAGACACACACAGAGGGATGACC CTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCC TCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCC AGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTG GTATTCTGTGACAGCAGCCTGAGATGGACTAAGCCATCTCATAAGAAGAG ACGAGGACACAGACACACACAGAGGGACGACCCTGTGAGGACACAGGGAG AAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCACT GCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCA GTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCT GAGATGGACTAAGCCATCTCATAAGAAGAGACGAGGACACAGACACACAC AGAGGGACGACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCC AGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGA CCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCC GCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGAGTAAGACATC TCATAAGAAGAGGAGATGAGGACACAGACACACACAGAGGGACGACCCTG TGGGACACAGGGAGAAGACGGGGTCTCCAAGCCCAGGAGAGGGGCCTCAG GAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGG CTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTAT TCTGTGACAGCAGCCTGAGATGGACTAAGCCATCTCATAAGAAGAGACGA GGACACAGACACACAGAGAGGGACGACCCTGTGAGGACACAGGGAGAAGA CGGCATCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCACTGCCC ACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGT GTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGA GATGGACTAAGACATCTCATAAGAAGAGGAGATGAGGACACAGACACACA CAGAGGGACGACCCTGTGAGGACACAGGGAGAAGACGGCGTCTCCAAGCC CAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAG ACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGC CGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGCCAT CTCATAAGAAGAGACGAGGACACAGACACACACAGAGGGACGACCCTGTG AGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGG AGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGC TGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATT CTGTGACAGCAGCCTGAGATGGACTAAGCCATCTCATAAGAAGAGACGAG GACACAGACACACACAGAGGGACGACCCTGTGAGGGCACAGGGAGAAGAC GGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCA CACCTGGATCTCAGAACTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTG TTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAG ATGGACTAAGACATCTCATAAGAAGAGGACATGAGGACACAGACACACAC AGAGGGACGACCCTGTGGGACACAGGGAGAAGACGGGGTCTCCAAGCCCA GGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGAC CTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCG CCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATCT CATAAGAAGAGGAGATGAGGACACAGACACACACAGAGGGACGACCCTGT GGGACACAGGGAGAAGACGGGGTCTCCAAGCCCAGGAGAGGGGCCTCAGG AGGAACCAGCCCTGCCCACACCTGGATCTCAGAACTCCAGCCTCCAGGGC TGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATT CTGTGACAGCAGCCTGAGATGGACTAAGACATCTCATAAGAAGAGGAGAT GAGGACACAGACACACACAGAGGGACGACCCTGTGAGGACACAGGGAGAA GACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGC CCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAAT GTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCT GAGATGGACTAAGCCATCTCATAAGAAGAGACGAGGACACAGACACACAC AGAGGGACGACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCC AGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGA CCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCC GCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGCCATC TCATAAGAAGAGACGAGGACACAGACACACACAGAGGGACGACCCTGTGA GGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGA GGAACCAGCCCTGCCCACACCTGGATCTCAGAACTCCAGCCTCCAGGGCT GTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTC TGTGACAGCAGCCTGAGATGGACTAAGACATCTCATAAGAAGAGGACATG AGGACACAGACACACACAGAGGGACGACCCTGTGGGACACAGGGAGAAGA CGGGGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCC ACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGT GTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGA GATGGACTAAGACATCTCATAAGAAGAGGAGATGAGGACACAGACACACA CAGAGGGACGACCCTGTGGGACACAGGGAGAAGACGGGGTCTCCAAGCCC AGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGA ACTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCC GCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATC TCATAAGAAGAGGACATGAGGACACAGACACACACAGAGGGACGACCCTG TGGGACACA	G G	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	113	0.0088	-3958	c.874 others(17): Show c.874+4168_875-5282del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11			chrX	TogoVar
KEAP1_chr19_10481125_10508356	10481654	CGTGGCTC others(3945): Show CGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGGGCGGA TCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCG TCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCACCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGACTGGCATGAACCTGGGA GGCGGAGCTTGCAGTGAGCCGAGATAGCGGCACTGCAATCCGGCCTGGGA GAAAGAGCGAGACTCCATCTCAAAAAAAATAAAAAATAAAATAACTGAGT GAAGGGGGACAGGTGCTTTGGCTTATGCCTATAATCCCAGCCCTTTGGGA GGCTGAGGCAGGAGAAACTCTTGAGGTCAGGAGTTCAAGACCAGCCTGGG CAACATAGCCTGCTTGGTGGCGTACACCTGTGGTCCCAGCTACTTGAAAG ACTGAGGTGGGAGGATCACTTAAAACTGGGAGGTCATGCCTGTAGTAGTG AGCCTTGATCTGGCCATAGCCCTCCAGCCTGGACAACAGAGTCACTCTGT CTCGAAAAAATAAATAAAAATAAAAAAATAAACTGAGAGACGGCCAGGTA GGATGACATGTGAGGAGTAGACGGATGTAGGGTAGAAATAAAAGAGACCC CATGTAGGATAGTTGAGACTTGAGGGAAAAATAAACCAACTTCTTGGGTA ATGTAATTATTAGTCTTTCAGGCCCCTGAAGCTGAGCGTAAATGAAGGCT GAGGCAACTGAAGTTGGCACTAGGAGATTCGGTTTCCTTTTCTTACCACC CTTATCAAGATAATTGCTTAATCCCGGAGGATCCTGGGACATGTAGTCTA AAAAGAGTGTTCCTGCTTTAAAAGGTGGCACCGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCGCTTTGAGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCAAGACCATCTTGGCTAACACGGTGAAACCCCAACTCTACT AAAAATACAAAAAATTAGCCCGGCGTAGTGGCAGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGT TTGCAGTGAGCCGAGATTGCGCCACTGCACCCCAAACTGGGTGACAGAGC CAGACTCCGTCTCAAAAAAAATAAAATAAATAAAATAAATATAAATAAAT AAAAGGTGGCACCACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCTCAG CACTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTCAAGACC ACCCTGACCAATATGGTGAAATCTTGCCACTACTTAAATATACAAAAATT AGCGGGACATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGAAGGCTGA GGCAGGAGAATCGCTCGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGA TCACACCACTGCGCTCCAGCCTGGGCAACAAAGCGAGACTCTGTCTCAAA AAAAAAAAAAAAAAAGTTTGCGCCATAAAATTAGTTACAACCCTGAGCAG TGGATAGGGTGCTGGTGCTTGCAGGAGGGCGAGTCCTTTAAATAGGGAAC TCCCTCAAAGCATGTGCACTTTTATTTGATTTATAAGAAATATCATTTGG TCCAAAGTTTTGAAGAATGAAACAGATGTTTGCTCTTGTTGCCCATGCTG GAGTGCAGTGGTTAAGATCTCGGCTTACCACAACCTCCACCTCCCGGGTT CAAGCGGTTCTCCTTCCTCAGCCTCCCGAGTAGCTAGGATTACAGGCATG TGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTC CATGTTAGTCAGGCTAGTCTAGAACTCCCGAGCTTAGGTGATCTACCCAT CTGGGCCTCCCAAATTGCTGCGATTACAGGCGTGAGCCACCCCACCTGGC CCGGAGAATGCTACTTTTAAAAATAGGAACAAGCCAGGAGCTCATCCAAT CTTGTTCCTTTTCTAACTTTCTTTCTCTGGAAATAGTTCCTTTTCTAACT TTCTTTCTCTGGGCCTCTTTCACCCAGAGGCCCACAAGAGGGTGCTGTCT GCCTTTTAGATGGAACTTCCTGACTCTGCCCTGAGGGTATTCATCCCAGA GCTATACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGATTACAGGCACATGCCACCACGGGCAGCTAATTTTTGTATTTTTA GTAGAGACAGTGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGAC CTCAGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCACACCCAGCCTTATTTTATTTTAGAGTCAGGGGTATTGCTG TGTCACCCAGGCTAGAGTGCAGTGGTGCAGTCATAGCTCAGTGCAGCCTC AAACTCCTGGGCTCAAGTCACCTCCCGCCTCAGCCTCCCAAAGAGTTGTG ATTACTGGCATGAGCCATTGTACCTGGACAGCCTGTGAATTTTACTTATT TATTATTTTTATTTTTGAGACAGAGTCTTACTCTGCTGCCCAGGCTGGAG TGCAGCGGCGCGATCTTGGCTCACCACAACCTCTGCCTCTCGAGTTCAAG TGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACC AGCACCCCCAGATAATTTTTGTATTTTTTAGTAGAGACAGGGTCACACTA CGCTGTCCAGGCTGGCCTCCCAACTCCTGAGCTTAAACAATCCACCTACC TTGGCCTCCCAAACTGTTGGGATTATAGGCAGGAGCCACCACACCTGGCC CAGCCTATGAATTTTATCTATTTATTTATTTATTATTATTATTTTTTGAG ACGGTGTCTCGCTCAGTAGCCCAGGCTGGGGTGCAGTGGCGCGATCTTGG CTCACTGCAAGCTCTGCCTCCTGGGTTTACGCCATTTTCCTGCCTCAGTC TCCCAAGTAGCTGGGACTACAGGCGCCAGCCACTGCGCCCGGCTAATTTT TTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAG GATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGTCTCGGCCTCCCAAA GAGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCATGAATTTTAAAT TATACAACTAAAGTGGTCTGCTGTGAAATGTTATCATGATCATTCTAACG TCAACAGTCTTGACAATTCTGCCCAATTTCAGCATTTCAGGTTTCCAGTA CTTAACTCATTCCTAAGTAAATAATACTACATTACAAGGCAAGGTGACAC ACACCTGTAATCCCAGCACTTTGGGAGGCCGAGTCAGGGGATCCCTTGAG CCCAGGAGTTCAAGACCAGCCTGGGCAATAAGGCAAAACCTCATTTCTAT AAAAAATACAAAAATTAGCTGGGCATAGTGGCACATGTCTGTAGTCCCAG TTACTGAGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAATTCAACG CTGAAGTGAGCTACTATCCCTCCACTTCAGCCGGGGCAACAGAGCAAGAC CTTGTCTCTGGGAAAAAAAAAGAAAAACTTGAAAGAGAAGAACTATTGAG GAAGGAAAAGGGTGATACCTTTGGTTGTGTCTAAATTTACCAGGCTGCAC GTGGTGGCTCATGCCTATAATCCCAGCACTGTGGGAGGCCAAGGTGGGTG GATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAAC ACTGTTTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCGCAGC TGTAATCCTAGAGACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCT GGAGGAGGAGGTTGCAAAACTCCGTCTTGAAAAAAAAAAGTAGGCCGGGC ATG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG02135.hp2 NA18945.hp1 others(9): Show HG00408.hp1 HG02135.hp2 NA18945.hp1 NA18957.hp1 NA18966.hp1 NA18968.hp1 NA18982.hp2 NA18988.hp1 NA19055.hp1 NA19084.hp2 NA19085.hp1 NA19089.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0026 a0001c0002t0003g0031 a0001c0002t0003g0057 others(7): Show a0001c0002t0003g0026 a0001c0002t0003g0031 a0001c0002t0003g0057 a0001c0002t0003g0058 a0001c0002t0003g0059 a0001c0002t0003g0060 a0001c0002t0003g0069 a0001c0002t0003g0070 a0001c0002t0003g0204 a0001c0002t0003g0207	12	390	0.0308	-3952	c.10 others(11): Show c.1046_*4997del	KEAP1	ENSG00000079999.14	transcript	ENST00000171111.10	protein_coding		4470		chr19	TogoVar
NSMCE2_chr8_125086860_125372120	125096672	GTGATCTC others(3944): Show GTGATCTCAGCTCACTGCAACTGCTGCCTCCAGGATTCAAGCGATTCTTC TGCCTCAGCCTCCCGAGTAGCTGGGACTGCAGGTGTGTACCACCATGCCC AGCTAATTTTTGTATTTTCAGTAGGGATGGGGCTTCACCATGTTGGCTGG GCTGGTCTTGAACTCCTGACCTCGAGTGATCAACTGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGGGAGCCACCACACCTGGCCCTCTGTGTAGAA TCCTAAAGTGTGCGTGACTCCATTATAACTTTCTCATATGCTTGGTTTGC CCGTAAATTTCTGTTTTTTGATCCTGGTTTTTCTGAATTTATGTTTTTCC ATCTTTTTGTGTATGTTTGTATTTATATTGTGTAAAATGTCTCAACTTGT TTGGTATAATACAGTGAGATTGTAAACAAGCAGTCTCTTTCAATGCAAAT GTTTGAAGATCATCATTGGCTTTTATTCCTGTTTGTATTTTTTCTTTTTT GATGTGGAACTGTAAAGTCCCAGAAAAGAACACAACAAGAACCCTTGTTT CATCACCCAGATTTTAACATCTTTAACATTTTGCCATATTTGTTTCAGGT CTTGATTTTTAAGGTAAAGTTTTGAAAATACATAGAGCTCAAATTTCCAT GATGACCACTAGACCCAACTGGAGTGAATCTTTATCCTGTACTTAAGGCT GTCTACACTATATTCCCAAAGAATGAAATCCAGTTATCTTCCCATTCCTT TGTACCTGTATGCCAGGCAAAGGGAACTCATCTCATCGTTTACTACCTTA TGATCTTTTTTCATCTCACTGCTTCCTTCATCTGAACAGCTCTCCCTGAT AATTTAGACCTTTCCAAATCCTGAGTACCTTTTATGGTCCAGCTTAAGTG CCTTCATTTCCGTGAAGCCTATGTCTCCCCTGTTGTGCCTATAATCCTTT CCTTTCTTGAACATTGTAGCATAGTGGGTTTGTGTAATCGGTTTCTTTTT TCAACTTCATAGTACTTGGTTCATTCTTTTAATATGGAACTTGTTCTCTG CCAAGCCTGTTTTGAGGGGTTGTGGCAGAAAGGAGTTATGTTTATTCTGG AATATCAAATAGTTAAGGTTATATGAAATGTATGATTTAAGTCTTGGTGA AAAGTAGAATCTCTGATTTGAAAAGCGTGTTTGCATTATATTGTAGAAAG CTTTGGATACTGTGCTAATTATGTTGAATTTTATTATATAGGCAGGAGGG AGTTAGGACCAACCCTTCCTGCTTTTTTCTGTCTTTATTACTGGCATCTC TGTCTTATTAGCAAGCTCAAAGACCTTAAGGTGAAGCATGCCTGGGTTAT TAAAGGACTAGCAATGGCCAGATAATGTAGAACAGTGGTCTTCAAAGTGT AATTCTTGGATCAGCAAAATCTACATTACCTGGAAATTTGTTAGAAATGC AGATTCTTAGGTCCCTTCCCAGACATACTGAATTAGAAATTCTGAGGGTG AGGTCCAGCAATCAGTGTTTTAATGGGCCCATCAGATGATTCAATACACT GACACTACATGTCTCCTAGATATATCAGAGTTAGAATTACATAGAGGACT TGTTAAAACGTAGATTGTTGGGGCCTGAGAATTTGCATTTCTAACAAGTT CATAGGTGATGCTGGTGACACTTGGTCAGGAACCATTTGGAGAACCACTA TTGTCAGTTATTACGAAGCTCTTTGGCCATTACTCCCGGTGAGTCAGGAA GTCCTTAGGAGTTTTTGAGCAGAGGAGTCACATGATCTTACGTACATTTT CAAAGGTTTACTCTGGCTGCTGTGTTGAGAATAGGGTGGAAGAGGCAAGA CTGAGAGCAGGGAGACCAGGTAGGAGACTGTTGGAGTAATTCAGGCAAGA GATGATGGTTTGAATCACGGTGTTATCAGCAGAATTGGTGAGAGTGGTTG GATTCTGGAGATAGTTTGACTACAGAGCTGGCAAAATTGATGTTGAGTTT GGTATAGGATATGAGGGGAGGAGGAGAAGGATCAAGTATGAACCAAGAGT TTTGGTTCAACAAATGGAAGGATGGAGTTGCTATTTAGTAAGATGGGGCA GGTTGTAAAAGGAGTAGGTTTGGGGGAGGGGTAGGGTGGGAGAGAAGGAA TGTGGGCCTTCCATGTTGGACGTTTTAAGTTCTGGAGTGATCTTGCCAAT GGTATTTAGATGGAATGGGTCTAGTTGGGAACACTAGGTGGATGGGAGAG GATGGAAAAGAGAGATCAGAGCACTGAGCCCTGGGCATACCACCTATACT ACAGTTTTGGAGACATGTGCTGTTTTAGGTGCTGGAGATACATAGTATTA CATTCATTCCTTCTTTCAGCAAGCCTTTGTTGAATGGCCACTAATGTGCC ATGCGTTGTTTTAGGTGCTTGGAATACAGCAGTGAACAAAACAGAAAAAG TCAAAAAGTCTGTAAGTTTAAGGAACTTACAGTGTAATTGGGGACTAGAC ACTATAAACCTAATAAATACAAGAATGTCGTTTGGCAATACCTGCCTTGA GGAAAGATAAAGCAGAAGCAGAAGGGTGGGAATGCCTGGGGGTGGAGATT GGGAGGGCTTGCCGTTGTATATCAGATGGCCAGGGAAGGCCTTACTGATG AGGTGATACTCAAAGGGAGACCTTAGAGAAGTAAGGGAATTGACCTAGTA GATATCTAGGGGACCAGTATCATGGCAGAGGGAACCAAGAAGGCATAGCC CTGAGGCAGGGCTGTATTTGATTTGGGTATAGAAGGAGAAGAAAAAGAAG CTTGGATTCTGAACCTGGGACCCTACAACATATGGAGCTCAAGGAGATGG AGAGGAAACAGAAAGGAGAATGAGAACAAGAACAAGGTAGGCAGGTGCAG AAAGTGCATCAGGAAGGGAGTGATTAACTGTGTTGCATACTGCTGGCTGA TAGGTCAAAGGAGATAGGGCTGAGCATTGATAACAAATTTAACATTAAGT CTTTTCAGGTGACCTTGACAAGAGCAGTTGCAGTGGAGTGATAGAGATGG AACCCTAGTGGGGGTGGGTTCCAAAGGGAATGGAAGGAGAGGATTTGGAG ACAAATGTATACAAATCTACAGACGAGTTTTGCTCTAAGGCTGAGTAGAG AAATGGGGCTGGTAACCAGAGGGGTAAGTGGGAGGAAAGTCGGAGGATGT TTTTGAGATGGGAGAAGTAATGGTGTATTTGTTTGCTGAAGGGAATGATT CAGTAGAGAGGGAAAATTTAATGATGCAGGAAAGCAGGGAGAATTGCTGG GAGAATGTCTTAGAGTAGGGAGGGAGGGATAGGATCTAGTGGATAATTGG AGTGGAGGTGGCCTTATCTAGGAGCAACAGTTTATTCATTTTAACAGGAG GGAAAGCAGAGTGTATGAGAACTGATGCTGATAGGTGGAGAGGTAAGCGG TGGGAGCTTGCAAAATTTCTATTCTGACTGCTTCTGTTTCCTCAGGAAAT TAGGAAACTAGATCTTTCAGTGAGAGTGAGGATAGAGGAGGAAGTGTTGG AAGTTTCTAGTGAGAGGAGTCGTAAAAGAGCATAATAGAATCAGGAAAAG TCAAGTATTGTCTTATGTACTCTGCAATGATTTGTGCACTTCATTCCTAC CTGCCTTTTCCTTTGCCTGAATGCCCTTCTCCATTACCCTTCCATCTGTT AAACTTCGTCTTTTATCCTTTAAACTCAGTTCTATGTTCCCTTCTTTGAT CCAGTCAGGCAAAGTTGAGCATTTTCTTATCTGTGCCTCAGCTTTGCAGT AACTCCCATGTTGCTTTAATTATCAGGTTTATGTTTTATCTCTGTCTCTC CTACTCAGTGGTGAGCCCCTGGGAGTAGAGGCTGAATTTTTTTTATTTTT ATTTTTTTGAGACCGCGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGG CA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	242	0.0041	-3951	c.-11 others(19): Show c.-111+4721_-110-1422del	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASMT_chrX_1610059_1648081	1637075	CTGTGTGT others(3943): Show CTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCA TCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGAC AGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGAT GTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGT GAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTG TATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATG CTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCC AGTGTCCTGTGAGGTCCACCCATCCTGATGGCACATGAGGATGTGGGCAC AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC ATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCA TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG GGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATG AGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC TCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCC TCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCC TCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGG ACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAG GATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTC CTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTC TGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTC CTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGAC CATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGA TGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTG TGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGT GTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCT GATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA TGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAGGACG TGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAG GTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGT GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC CAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGAC ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC CATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAG ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATC CATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCA GTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACA GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA CCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGAT GGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGTTCAT GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT CTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGC CTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACC CATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGG ACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGG ATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCT GTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTG TGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCC TGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACA GTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATG TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT GAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTG TGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGA TGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATG TCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTG GACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAG ATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGT GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATG ATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTC CCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGATGTGGGC ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT CCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGT GATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTT CATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCA GCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCATGAGGACGTGGGCAC AGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC CATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG GGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATG AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT CCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCT CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCA TCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGG ACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGG ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC TGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT G	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0198 a0002c0002t0002g0198	1	221	0.0045	-3950	c.910 others(16): Show c.910+525_911-1769del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
IMMP2L_chr7_110657644_111567492	110941848	AAATTCTA others(3942): Show AAATTCTAATTCATTGGGCTTTTTTGTTCTTCCTCCACAGAATTATGGAT GTACTGGGGAGCTCAATTTTTGTCAAAACGAAACAGCTATCCTTTAGTAC ATTTAAAAAGAAATCATACCCTAGTTAAAGGACTGAAAAATAAGCTGAAA AAACACAACTGAATATTAAATCTGTTTTGTCAGTTTTGTTTTAGTGTACA GAATCTGTTGGTAATAAAACAATTTGTTAATTGGTTGCTCTAGGTTATTT GGTGGCTAACCTAATAAATTCTACTTCTAAAGTATAAGCTCACCACTTAT TTTTGTCAATTAATTACATTTCATTCAAGAGTTAAGTTTCTTGCAATAAA TATTAACATAATGTGGGAAGATTTTATAATTTTCCAACTGACTGGGAATC TTTGACAACCAAATGCTGAACTTAAATTGAAGAATAACTCAATAGGAAAT ACACAATAGCAGTGTCAAGATTTACAACAAATACACTGGAAGTGTTTTAA AAATTAATAGTAGGCTGCTATGCTTGGCTTAATTAGCTTTCTTTTTCATG TACAAAGCATATCTGTCTAGTTTTACGAACTTGGTCTCCAGTCCCCTTTC CTAAAAACCTGTTTAATTAAAGTTTAACTGCTGTGTACGCTTTAGAAACA GCAGAATGATTTTTTCTCCCTTGAAATACTTAATCCTTTCTCAAAATATG ATCCTTCTGAATATATATTTAAAAGGCAAGGGGTGAGGAATGAATAATCT TCCAACAGACAAACACTGACAGTTTAGCTCATCAGTTCCAGGTATGGGTA GACTGAAAATTGTCTCCCAGGCCACCAAGAAATCCAAAACCAACATTTGG CATGAGCAGATTTTTGTTCTTCAAAAATAAAATGTCAGATAGAGAAAATG ACAAATGAGTAAATAGAAAATTAAGTAGAAAGAAGGCTACAAAATACTAT AAAAACACTATACTTAATGATTTTTGTAAGACTTTTCCATATACTGCTAT AGATATCCAGCACCCAAGTAATATGACAAATAAGGCAATGCCAGCTATCT TTATCAGTGACTTGCAAAGTCAGTGTAATACTTTATTATCAAACATGCAA ATATTTTAAAAATAATGACATATATTGACCACACAATCTCTGAAATGAAG ACAACAATTAAAGGACAGATGGATGTGATGAATCCCTGAACAGTATACCT TTACTTATGAGACTAAAAAGTAATACTAATAGAAATTTAGTTCAGGATCA CTAGCTAAGGCATACAGTTTCACGCTGTCCCAACTCCAGATTTCTCTCCT CCAAGGGTTTCTCCAGCAATGCTGGCATGACTACTGTGCAGGAAAATATC ATAGGTATTTTTAGGCCCTTTTGACAGTCAGCTCCTTGAAAAGAGAGTTT CTGACTTAGCCTCACATTCCCTACTGTGGTCTGTTTGTGGTACATGCTCA TTCGATGTGTGTTGAATATGCACCTTGATACAAGTGCAAAACCAATTCAT TTTTAAGAGAACTCTAAAAAAGACTTTAGTAGAGTGTATCCTTGTTCAAA ATATTTGTTTCCCATCCCTGACAGAGGGATAGGTGAGTACATGCCCACCC TGTTGATTTCAGACTTGGTCATGCAGCGGCTTCTTTTGGCCAATGACATG TATGTGGAAATAATACATGCCACTTTTGAGTAGAAGCTTAAGATCCATCC CATCGTTCCACCATGCTTTTGTTCTCCATCTCCCCTGAGACTATTAATAC CTTGATAGCTTTATTCCCTGCAGGAAAAAAAATATGGAGCAGAGCCTCAT GCAACCCATGGGGAACATATAATGGAGCAAGAAACCAGCCTCTATTAACT GCAGGCTATTGAGATGTGGGGGTAGGGTGTTACCACAGAAGAAGTTAGTC TAAGCTGACTGACACGGGGCCCATTTAAGACTTTTCAATAATAAACAAGC ATATCCTCATCCCCTTTGCTATGCAGGGACAATCCCTGCAGCACTTATGC TGCTGGAGAGAGAAAAATGAAAACAGATGGCTGAGACTCATGTTCTTTAC TACTTGCTTTCCTTAACCTTCAGCAACATGAAAAACTAATGTTCAGCAAA TTAGAGAGTTTACATTTTTAAAGATAAGGAGTTGGGATTGGTACTAATTG GACTAAGTTGAAATATTTCCAAAATAAATAGAATCATTTCACAGAGTGAT ACTCAGGATTGAAGTTTTATAAATATTGCAGAGAGCTTTCTGCAGTCATT AAATTTGACAAATACTTAGTGAGCAAACCCTTGGTATGCTAGATTTCATA AGGCAGGATTGTTCTGGGCTCCAAAAATAAGTCATTGCTCCGGACCTCAG GGAGCTCACAGATAGAGAAACACATGTACTACTCGTTCTAATATAATCAG ATGTATGTTACGTCTGTCAGATCAATAAAGTATTATGGAATCAGAGAAGA GGACAATCATTCCTGTCAGGGTAAGGATACAGGATGTTCTTAGATGGATG GGGATGGAGAAGGATCTGCCACATTCAGGATAAAACATGAACACAAGAAG ATAAGCATGAAAGTATTTTTTAAATCTGGAATAGTATAGCTCAAGCACAT AGAGTGTGTGTGTGTGCGCGCGCACGTGTGTGTGTGCGCGTGTGTGTGTA AAACAGAGAGAGACAGAGAGAGAATGAGAATGTAGGCAGGGTCCTGAGGA TTAAAGAGTATACACTGAAAAATCTCCCTCATTCTCCTGACCCTCCAGTT CCTTCTCTAAAGGCGAAGTTACTCATTTACTACTAACTACTAGTTAGTTA CCAGTTTAGATTACAAAGAAAGTGGAAGTGGACTCTTAGAAAAATGACTG GGATGGAAGTGGCAGTCAGAATCTGACACTTTATGTTAACTAATTCCAGA GACAGTTTACTCATATACAAGTGTATGGGTGTTTGTGTGTGTGTATATGT ATGTGTGTACATATAGATCCTTTTCTCTTAACCATCCTAGAGAAATTCTA ACTTATGAATGTACTATAATGTCCTTAACTGCACTGACATACATTTAGAA TGTTTTCTGTCCTTTGCTCTTATAAATAATGTTATAATTAACTCCCTTAT ACACATTCCTTTGCAATCATGTGAAAATATACCTACCTGATAAATTACTA GAAATGAAAATGCTGAGTAGGAATTCGCCAGGCAAAAACAAAACAAAGGG AACAAGACAAAAGGAAGGTGCTTTCTACAAAGGCAACGGTATGCAAAACG TTACATAGCTGCCAAGAAAATGCAAACTATAGGTATGGCCAGAGACAGTG GGGAGAATGTGGCTGGAGGGATACTCCGAGGCCAGATTGTGAGGGGCCGC ATCTGCAGGGCTCCTGTTTATGGAAGGCATAATGAGATTAACATTTTTTA AAAAGCAGGAATGCATAATAAGATTAACATTTTTAAAAAAGCATTCTTGT GGAAGTGTGAAGAATGGATTGGCATGGGTAAGAAAGGGAAATCAGTTAGG ATGCAGCCACAGTAATCCGGGGAGGAAATAATGAAGGCCTGGTAACCCAT CTTCCTGGGCTCTGTGAAGGAAAATACCCACCTCGCTTGCTTCTTGCACT TTCCCTTTTTGGGAGACCTCAAAGGCCAGTGGTTAACATGCCTCACGGTA AAGTATCTGCCACTGAGCATGACTCAGCTATGGGATCCACCCCTGTACCC CGGAGTGGGAGAACAGTCTTCCTTCTACCAAAATGTATGTACTGACAGCT TCCACTTTTTCTATAGAAAAAGTAATTATTATAGAATTTAGGAGCTGGAA GACATGGAAATCATTTAGTCCAAAGGTCCTCAGATTATTGTCAGCCGCTT TCCATTTTTCTAAAGCCTTGTAATCACGGAGAGGTCAGAGATTGAGAAAA AAGTGGAAATGAACTCCTAAAGAAACAATTAGGGTGGAGGTTGTGAGCAG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA20300.hp1 HG00438.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0029 a0001c0001t0001g0034	2	84	0.0238	-3949	c.305 others(19): Show c.305+17703_305+21651del	IMMP2L	ENSG00000184903.10	transcript	ENST00000405709.7	protein_coding	4/5			chr7	TogoVar
ASMT_chrX_1610059_1648081	1636913	CTGTGTGT others(3940): Show CTGTGTGTGATGGGGACAGTGTCCCAGCTCTCCTGTGAGGTCCATCCATC CTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGATGGGGACAG TGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATG TGGGCACAGCCTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTGT GAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTG TATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATG GCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTC CCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGC ACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCA TCCCTCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGG GGACAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGATGGCACATGA GGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCT CCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCT CTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCT CCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGA CCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGG ATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCT GTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTG TGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCC TGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC ATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGAT GTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGT GAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTG TGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTG ATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCAT GTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGT GGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGA GATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTG TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGAT GATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGT CCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGG CACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGG TCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTG AGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGC TTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCA GTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACA GCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCAT CCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA GGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCAT GAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTG TCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCC TCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCC ATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGG GACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAG GATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTC CTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTC TGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATC CTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGAC CATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGA TGTGGGCACAGCCTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCT GTGAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTG TGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGA TGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTG TCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGG GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG GTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGG CACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC CAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGAC ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC CATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAG ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATC CATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCA GTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACA GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA CCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGAT GGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCAT GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT CTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGC CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCATGA GGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCT GTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTG TGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCC TGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACA GTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATG TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT GAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01891.hp1 HG02109.hp1 others(2): Show HG01256.hp1 HG01891.hp1 HG02109.hp1 HG02630.hp2 NA19057.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0009 a0001c0001t0002g0160 a0002c0002t0001g0044 others(2): Show a0001c0001t0001g0009 a0001c0001t0002g0160 a0002c0002t0001g0044 a0002c0002t0001g0070 a0002c0002t0001g0208	5	179	0.0279	-3947	c.910 others(16): Show c.910+380_911-1917del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLRA1_chr5_151817513_151929851	151869543	GTCTCTAC others(3939): Show GTCTCTACTAAAAATACAAAAATTAGCCTGTACTTGGTGGCAAGCACTGG TAATCCCAGCTACCTGTGAGGCTGAGGGGGCAGAACTGCTTGAACCTGGA AGGTGGTGGTTGCAGTGAGCTGAGATTGTGCTACTGCACTCCAGCTGGGG CGACAGAGCGAGACTCCACCTCAAAAAACAAAAACAAAAACAAAAACAAA ACAACAACAACAAAAAAAACCTTTTCATCAACCTAGCATACTGGGCATTA TTATACTTATTTCACTGGAGAGGAAACCAAAATTTAGAGTGGTTAAATGG AGGTTAAGTTTCTTGCCCAAGATCACATAGCTAGTAGGTGCTAGGAACAG AGATATGAATCCAGGACTTCTGGTTCCCAATTTCACACTCTTTTGACAAT TATAGGCTGTATCTTCCCATTTAAAAAAAATTTTAAACCAAGTTCAATTT ATTTTATTTTAAAACATCTATTTAAAATATTTTAAAAGTAAATATTTATT AAAATTATTAAATATTTTAAACATATATTTAAACTTTTTATTAAATATTA AATACAATATGTTAGACTATCTATTGGGTAGATCAAGGAAATATAGTAGA CGTAGTATACTGGGGACCCACTGAGCCCATGTGACAGACAGGTTGGTGCA TAAATAACCTTATAATCAGTATCAGGCGAAGAATTTTGGATTGGGACATT GAGCAATGAAGTAGATTTATAACTGGTTGCCAAAGGGTGCAAATGGAAGG AAGGAAGGGTGGATGTTAACCTGGAAAGAGGAAAGCTGATAGTGTTGGCA GTGCAGGGCACAATGGTGAGACATGCCACTAACAAACTTGGAAATATGGA AACTAAGATCACCCTCTGAGAGTTAAAAAACAAACAACGGAGATGAATAT GCAATGGAGGGATTTGCATGTTCAAATCTGAGGCCTGGCATCAATCTGAA TGATCTATGTGTAATCTCAATGACTTAGGATGGGCATGTGCTTGTAATGT AATGAGAAGAACCCTAATTTATTGTATTACATCTTGTTTTGGGGACTGTT TTGTAAACATATGTGGGACATTCATTCTGTAGCATAAGAAAGGGCCGTTC AAGTAGGAGGAATTTGGCAATTGGTAATCTAGCATACTGCATCACTATAT TTGTGGAAACACCAACTTTCTTGCCATTAGAAGGAGGGCTTCTGTGTGGT GACGCAAGGATGGTTTCTTAGAACTCTCTCTGGCCTGGATGAAACTTCCC TCAAGACTGTCTACCTCTCTTTTCTCCAATTCCAGTTATGTTAAAAGCAA CTTTTGCTTGGCAAGGGAGCACACTCCTGGTGGACATGGCATTCTTATTA TTACAATAGAAAGTCTTACTGTAAATTGGAACAATTTGGCAGTTTGATTT CCCCACTTCAGTCATTCGTGGGTTTGACGGTCATGAGTCAGCCTTCTGGA ATTTGATCTGATGAAGAGTCACGCTCTGGGCAGTCATAAGTTCATTGCTG TGACACCTCCCCTGGTGTACTGGGAGAGAATCATCCAGCAGATGGTACCA AGACTGCTCATCACCCCATGGTCTGCTTGTGATAGACTCTAATGGCATTT CTGAGGGCTTTCTCCTTGGCCCTCTCTTAGTCTTTTGTTTACTAAAGCTT TGTTGAGTGTGGCACCATATCTAATTGGATAACGCTGAATAGACTTTCTC TTGGATCCCCCAGACCCAAGAAGATAAGAAGGGACCTAGCATAAGCTGTG TAGAGAGACAAAAGTGTAATGGAAAAAGGAACAACAACAAAAGATCTCAT CCATAATAGCAACCACCCCCACAAAATATCTGTGAATAAACCTAACATGA AATATGTGAGTTGTATATATTTAAAAAAATCAAAAACTTTACTGAAAGGC ATAAAGGAATACCTGTATAATTGGAGAGATGTACTAATAAAATATTGTAA AGATGTACTTTATTCCCAAATTAATCTTTAAACTTAATGCAATCCTAATC AAAACCTGAGAGGCTTTTTTTTTTTTCTTTTTTTTTGAGATAGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAG CTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTATGTATT TTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCTCAACCTCC TGACTTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCCGGGATTACAGG CGTGAACCACCGCGCCCGGCCGTGAGACGATTTTTATAGGCCTCAATAAA CTGATTCTAAAGTTCACATGGAAGAAAGAAAGGGCTGAAAGCGTTAAGAA AAACTTGTAAATGAAGAACAACAGACGGCTTTCTCTACCAGACATAGAAA TATAATGAGTCATAGAAATTAAAGCAGTGTGATATTGGTATAGAAACAGA GCAATGGAGCAATAAACTGAGACTAGAGACTAGAAATGCATACATGGGGA TTTAGTTTATGAAAAAGATAGCATTTCAAATTAGTAGAAAAACAGTGACT GTTTAAGAAATGGTGTTGGAATAATAGAAACTCAATCAGAGAAAAATAGA GTTAAGCCACCACCAAATTCTTCGTATAAAATTAAACTCCAAATGGATTT AGGAGATGCATATAAAAAAAGAAACCTATAATATTATTCAAAATGCCCAG TCAACATATTAAAAGATGCTCAGATTCACTAGGAATCTGAAGTGCAAATT GAAAATGACAATGAAGTACCATTTTGAAAATCCCATTTGGTGAAAATAAA AAAGCTTGATAATACCTTGGGTTGGCAAGGATGAAGAGAAATAAACACTA TTGTAGGGAATGTAAATTATTGAAGCTTTTTTGGGAAGGGAATTGGGCAA AATACTTTTAAAAAAGTGACTATTCTTTCATTAAAGCAATTCTACTTCTG GAATATATCCTAAAGAAATGCACACAGAGGGTTATGCACAAGAATGCTCA TTGTAGCCTTGTTTGTAATAGTGTAAAGCTGAAAAAACCTAAAAGCATGT CAAGAGAAAAGTGGTTAAATACTGTGAAATGATGATGTCTCCATACCATG GAATTTTACCAGGAGGCTATAAAGCCTGGAAACATAGTATAATTTTGTCA TACATTTAATCTAATAATAAATAATATATTTGTTTTCCCATGTTTCGAAA TTTGGGATTGTGTAGAGAGTTAAAAACAGTAAGGTAGATCTATATGTAGC CATGTCGAGAGAGGCGTCAAGCTGTGGTGGAGTGGAAAAAGCAAATTGTA TTGCACAATCCTACTTATATAAAGACATGTATATGTACCTAAATGTATGA ACAATCAAGGAAAGGGGACTAGTATGGTGTCCACTAAATTTTATTACCTC AGGATAGGACAAAGGGAATTGGAGGGGAGGGCAAAGCAGGGGCATTCTTA TTTCTCATTCTCTTTTTCTTTTTTATTGAACTAATTACAAAAGCTTGTTT TCATGTATTACTAATGCACTTTAAAAAAATGTTCCAGGGTGCTGCTGTCC GTAAGCATACTGCAAGTGAACACTGTGACATGGTTCCCGAAATGGAAAGG TCTTTGAGGTGGAATGGGTAGAAATGGATTTTAGGGCCTAGAGAAGGTTT TCCAAGGGCTTCCTGGGGGAGGCAGAGGTTGAGAGAGAGGTCAAGAGAAT GAGATTCTTGGTTCCCTCTCCAGTTCAACCAGAACCACCCATTTAAGAAA TTTGTTTATTAAAGTGCTACATCAGATTTACCTTACAGCCAGGCGCGGTG GCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGACGGTGTGGATAGCT TGAGGTCAGGAATTTGAGACCAGCCTGGCCAATATGGTAAAACCCCA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01109.hp2 others(19): Show HG01069.hp1 HG01071.hp1 HG01109.hp2 HG01891.hp1 HG02109.hp2 HG02280.hp2 HG02622.hp1 HG02717.hp1 HG02723.hp2 HG02895.hp1 HG02896.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03471.hp1 HG03579.hp1 HG04228.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001	a0001c0001t0001g0014 a0001c0001t0001g0152 a0001c0001t0001g0155 others(19): Show a0001c0001t0001g0014 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0002t0001g0135 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0002g0183 a0001c0004t0001g0175 a0001c0004t0001g0176 a0001c0004t0001g0177	22	282	0.0780	-3946	c.252 others(18): Show c.252+13232_253-9536del	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	3/8			chr5	TogoVar
CPZ_chr4_8587765_8624752	8620808	CCATCGGC others(3937): Show CCATCGGCCCCCCTGGTTTCCAGAGCTCCAGGCCTGGGCAGGTCCCTCCA TGGAACTGGGCATCCACTCTGAGCAGTGCCTTGACCTCAACTGAATGACA GCATGGTCCCCACCAGCACCCTCAGCCTCGTTCCATTGCCTCCTGGCAGC TATGCCCTGAGGCGAAGGCCTCGGGGTTCCCAGCTGAAGCCCAGAGGAGC AGGCACACCCCCGGCGCTGGGTGGCGTGCTCTCGGGGGAAGGCATGGGGA GGGCTCAGGCAGCCTACAGCCCTCAAGTCTTACACTGGCACAACAGCGCT TGGTTTGCGGAGCAAGAATGATCTGGAGTGTTTGGGGAACATCTCACAGC CTCCTGAGCCCCTGCATCCTACATTCACCCATGCGCCTAGTGACTTGTAA GTTTACATTTATTTGGCTCCACTGCATACAGGGCACCGTGCAGGGGTCCT CTGAAATCCCGGGAGGCCCGTGGAGCAGACCTCTGCTTCGTGCTTTGCTG AAGTGGGTGTGGAAACAGCAGGCGCAAGGTGCCCAGGACTCGGGGTGTGC AGGTGGCCGCTCAGTCTCAGTCCCCCCGTGGGGCACCTGCACGAGGCCTT CCCTGCACTTCATTCTGTCCCCACCCGTTCACGCTGTCTAGGGAAGAGCC TGCTGCAGTGGGTGTGTGGGGTGGAAGGACTCATTCCAGAGCCCAGTTCG TGTCAGGGGCCAAGGGCCAGGCCCCCGGCATAGAAACTGGGCCGAGGAGT GGGTCAGGGAGCCTTGGGGAAGGCTGTGCAGGGGGGCCGTGGCAAGAGTG GGGGCCGGGGAGGTGGAGACGAGGAGATAGCATTCTCTTCACACACCACC CCGGATCCAGCCAGCGGGGGGCCCTTCTGCACTTCCATGTCCTTTTTTGT TGGTTTGTTTTGAGACCGAGTCTCACTCTCTCGCCCAGGCTGGAGTGCAG TGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCTGAGTTCAAGTGATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACCTGCCACCAC ACCCGGCTACTTTTTGTATTTTTTTTTTTTTTTTTTTAGTAGAGATGGAA TTTCAACATATTGGCTAGGCTGGTCTCAAACTCCTGACCTCAGGTGACCC ACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGAGTGAGCCACCACG CCCGGCCCCTTGTCATTTTGCTAGAACCTGCACAGTCCTTAGTGACGTCC TTGCCTCTGGCAGGATCCCCTGGCTGGGCCCTGCTGCCCCCCTCACTTTC CTCAGTCCCTGCTTTCCAGTGTGAAAGCTGTCAGAATCAAAATGGAGACA CTTGTCTTAAACAAAACAAAACAAAACCCCAACCAATAGAGCTGGGAACA GCCCTGACGGTATTCCCCATAAAACCATCACAGAAGACAGCAAACACCAC AATCGTGAGCAAAGTCCATCACAACCTCACACAAAAAACACTTCTGTGAG GACACCTGCCCAACCTCAGACTGTTACCACCCGTGTTCTCGATTCCTGTG GCAAGGATAAATATCCCAAAACAATTCTGTGATTCTCTTCACTTTGCCAT TAAAGCCTCTGTGCTTTTACCTCCCTGAAAACGCACAGCGGACTCCAGCA TACGTATTTGCACGCAATGCCCGACTCCTGAACGAACCTCGTTTTCATTT GGAGAGCCTCTCTGGCGGTGGTTCGGGTGGACGCTAGTGTGGACATGGCA TTGGGAAAACGCTGCCTGTGCACCAGGGCTGCCTGTTGCTCCAGGGGTGC TCACTGCTTCCAGGCCCGTCCGTGGACAGAGCTAGATATCCAATTGTTTT TAAAGGGAAAACACAAGGCCAGGCGTGGTGGCTCACACCTGTAATCCCAG CATTTTGGGAGGCCGAGGCCGGTGGATCACCTGAGGTCAGGAGTTCAAGA CCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAAA AAAAAAAAAAAAAAAAAAATAGCTGGGCAAGGTGGCAGGCTACTCTGGTG GCTGAGGCAGGAGAATGGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGC TGAGATCACACCATTGGACTACAGCCTGGGTGACAGACCAAGACTCTATC TCAAAAACAAAAACAAAAATAAAAAACACAGAGGGTTCCTGTTGCTACTT CCAATTCCAAACCAGAATGACCTTCTCCTGTGCAGAGAATCCCAGATTTC AGGGCAAAGGAGGGGAAGGACAAAGTAGAAAGTCACACAACTGTGCCTGC TTGATCCAAAGCACACACGACAGTCTCACAGCCCAGTGCTAGTCCGCTAC CCACAGTGCAATCACTGCAAACAGCTCCAGTTGTTTCCTCAAGTTCCTTT GGTTCTGGGATATAACCCACTAGGGCTATATGTAAGCTCCGAGGATTGGC TTTTAATATTCCTGGCAGCTGAGAAGAACAAGGTGCCGTGAAGAGCCACA GCCCCTCCAGAAACTGCACCTGGGCAGCGGGCCGTGTGGCCACAGCTGAG ACCCTGAGGAGTGGGTCCCCAGGGGACTGGTCTCGGGGAGAGGGGCTGCC TCTTAAAACACGACGATGGACAGACAGATGGATACGTTCAACAGCAGCAT GAACAAGTTCTACAACTAGAAATCATTATTTGTAAAGGAAAAACCCATTT ACGAGTTGAATCAGAGGAGAGGCTCGTGTCTCTGAGTTCTGAATTCATGT GGGGAGGAACAAATAGAGGAATTACCTGAAACGTAAAGCAAAAATACTGC CTCGAGGAAGTTATGAGGGAAAAGAGATTTTGAGAACAGATCCAGTAGCC CCATATGCAAATAATAGGGAAATAAAATATAATAGAAGAAAGGCCGGGCG CGATGGCTCACGCCTGTAATCCCTACATTTTGGGAGGCTGAGGTGGGCAG ATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGAGAAACC CCATCTCTACTAAAAAATATAAAATACAAAAAATTAGCCGGGCATGGTGG CAGGCACCTGTAATCCCACCTACACTCGGGAGGCTGAGGCAGGAGAATCA CTTGAAACCATGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCA CTCCAGCCTGGGCAACATAGTGAGACCCTGTCTCCAAAATAAATAAATAA ATAAATAAAAGAAGACGGACTGATGTTTACAAAGCATTCAGAGGAAAGGG CTCTGCCCTGACACTCTATACCCCAGCATGGATAATAATAATAATCAGTG ATATAATAATAGCCGATGCCCATGGACAGTTTTCCCTATCCAGGCACAGC TTCAGTGTTGTCTGAGCTTGTTTAATTTGTTTCCTCTCCTTAAGGAGAAA CATATTAGAATTATCTCCATCTCACAAGCACAGACAGGTCAAGTGACTTA TGCACCATCACACAACCAGGGTTAGAAACCAGAAAACCGGGCCAGGTGCG GTGGCTCACGCCTGTAATCCCAGCACGTTGGGAGGCCAAGGCGGGCTGAT CACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCGT CTCTACTAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACAGTGTGAACCCA GGAGGCAGAGCTTGCAGTGAGGCGAGATGGCGCCACTGCCCTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAGAAAAAAAAAAAAAAAAAAAAAAA AAGGAAACCAGAAAACCTGGCTTTGGGATGGGTCTGTGTTCTCAGCCACT CTCTCACTGCCTCTGCAGATAGAATGCATGGGTCACAGAGAAAGAAAGAC ATGTCCAGGTTGGCAAGGATGAAGGGAAGATGACCTCCGGACCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00642.hp1 others(12): Show HG00099.hp2 HG00544.hp2 HG00642.hp1 HG01261.hp2 HG01346.hp1 HG01515.hp2 HG02055.hp1 HG03017.hp2 HG03239.hp2 HG03491.hp1 HG03492.hp2 NA18945.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0010 a0018 a0020 a0029	a0001c0001 a0001c0006 a0001c0057 others(8): Show a0001c0001 a0001c0006 a0001c0057 a0002c0004 a0002c0009 a0005c0005 a0005c0034 a0010c0023 a0018c0047 a0020c0063 a0029c0064	a0001c0001t0002 a0001c0006t0002 a0001c0057t0002 others(8): Show a0001c0001t0002 a0001c0006t0002 a0001c0057t0002 a0002c0004t0002 a0002c0009t0002 a0005c0005t0002 a0005c0034t0002 a0010c0023t0002 a0018c0047t0002 a0020c0063t0003 a0029c0064t0002	a0001c0001t0002g0026 a0001c0001t0002g0299 a0001c0006t0002g0068 others(10): Show a0001c0001t0002g0026 a0001c0001t0002g0299 a0001c0006t0002g0068 a0001c0057t0002g0071 a0002c0004t0002g0254 a0002c0009t0002g0062 a0002c0009t0002g0266 a0005c0005t0002g0006 a0005c0034t0002g0245 a0010c0023t0002g0154 a0018c0047t0002g0036 a0020c0063t0003g0273 a0029c0064t0002g0256	15	440	0.0341	-3944	c.11 others(11): Show c.1192_*5135del	CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding		1057		chr4	TogoVar
NDUFA7_chr19_8306284_8326375	8310729	CTGGGTAT others(3934): Show CTGGGTATTGCTTAAAATCAGGGGCCAGGCGTGGTGGCTCACACCTGTAA TCCCAACACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAAT TTGAGACCAGCCTGGCCATCTCTACAAAAAAAAAAAAAAATTAGCGGGTA TGGTGGTGCACACCCGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAATT GCTTGAGCCCAGGAGGCAGAGGTTGCAGTGACCTGAGATCGTGCCGTTGC GTTCCAGCCTGGGTGACAAGCGCGAAAACTCTGGCTCCTGCAGCCAGATT TCTATCTCCTCCCCAGGAACCAGCTGCCTTCCTTCTGGAGCTAACTCATT CTCATCCCACAGCCCCAGCATAATGGTTTCTGGCTCAGGGAGGCCTTTCC TGATCTGCCCTAGGTCTGCCTTCCCTGTAAGCAGCCCTCACTGTCCTTTG CCTTCCCCGTTGAGCTACAGGGTGACCAAGGTCAAGCAGAGGCCTCAGTG GGAAGGTCTAAAAAATAAAAATAAAATCAGGCCAGGTGTGGTGGCTCATG CCTGTAATCCCAGCACTTTGGGAGGTCAAGGCAGGAGGATCGCTTGAGGC CAGGAGTTCAAGATCAGCCTGGGAAACATGGTGAGACTCTGTCTCTATTT TTTTATTTTTTAAAGTAAAACTAGAAGTGATACCTGAGCTCTACGTATTT GTCATAAATTAGGTCACATTCTCCCTGGAGGAAATCCAAGGAGGCAAAGT AGTCGGGTGGCCGTGAGGGTGCAGTGTCACAGGTAAGGCTGGTCCGAGGA CAGCTCCCACCTCTTTATGGGAGGAGCTGGAGTCACCGCCTTCTTCTCAG TGGCAGCTACAGCAGAGCTGGAGGAGGGAAAGACTTCAGTGAGGGTTTCC AAAGAACAGTGTGGAAAGATCTGAGGGAGCCCACACCTGCCCCGGGACAA ACACACCCACAGGGACTTTCTGGACCTGCAGGACAGACAGCAGGGTGTTC CAGAATGCCAACCCCTCCAACGCAGCCCCTCAGAGGATCAGCCAACGCCA GGTGGGAGCTAGCAAGCCTCCTCTCTCCCCTGAGCCCTGTATGAACCCCC TGCTGTGGCCCCCAGGCCCAGAACCCACTGTGGAGAGCTGGGCTCCTCCC TTCCCACTTTTGGTCTCCAGCGTACACAAGGCCCCCACCCCCATTCCTGC TGCCCCTCAAAACAGGATGCTGGCAAAAGGGCCAAGCGATCAGGTGACAA TGGCCTCCAGCTATTCCTGCCTCAGACTGGGCAAGAACTGCATGGCAGGC GCTACTGTGTGGGCGCAGAGCCAGGAAGATGGGGCACCGCCCTCAGGAAG ACTCAGGCTGGTGGGGCTGAGAATCCATGCGCAAATGGCAACTGCAAAAC GCATCTCTGGCCCAGAGCTGGCCAAGAGGGAGCCCCCAGGAGACCCTGTG CCGGCAAGTCCAGGACGAGCACCCTCCCCTCTCACCCCACCCACCTGAGC CTGTGGAGCTCACACACTTCACAGCCTAAGCAAGAAAGGAAGCAGGAGGG TGGGGTGATGGAGGAGGCGCCCCAGGGGTGGAGGCACAGGACCTCCCAGG AGCCTCAAGGAAATGGAAAAGGCAGAAGTGGCCTCCCTGGGAAATGCACA CATCTCTGGGGGCATGGCAAGGGGCTGTGTGGGAACAAGGTATCTTGCCA CACTCTGGTGCTGGACTCCAGTGAATCAGAAGGTGACAACAAGGACCACT CCACTGAGTTCCTTCTTTTTGAGACAGACTCTTGCTCTGTCACCCAGGCT GGTGTGCAGTGGCACAATCTCAGTTCACTGCAACGTCCGCCTCCCAGGCT TGAGTGATTCTCTTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGTGTG CACCATCACTCCCGGCTAATTTTTGTATTTTCTTTCTTGTTTATTATTTA TGAGACAGGGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCAATC TCAGCTCAGTGAAGCTTCCTCGACCTCCCAGGTTCAAGAGATCCTTCTGC CTCAGCCCTTCAAGTAGCTGGGCCTACGGGTGCACACCACCACACCCGGC TAATTTTTGTATTTTTTGTAGAGATGGGGTTTCCCCATGCTGCTCAGGCT GGTCTTGAACTTCTGGGCTCAAGCGATCCACCCGCCTCGGCCTCCCAAAG TGCTGAGATTACAGGCGAGAGCCACAGCGCCCCTAACTTTTGTATTTCAG TAGAGGCAGGGTTTCGCCCTGTTGGCCAGGCTGGTGTCGATCTCCTGACC CCTAGTGATCCTCTCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCTACCATGCCCAGCCTAAAAAATTTCTAATAGAGACGGGGTCTCGCT GTGTTACTCAAACAAGTCTAGAACTCAAGCAATCCTCACACCTCAGCTTC CCGAGTCACTGGGATTACAGGCACACACCACTGCGCCTGGCCTATTCACA GAGTTCTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCT GGAGTGCAGTGGCGCGATCTCAGTGAGCTGCAAGCTCCGCCTCCCGGGTT CACACCACTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCC CACCACCACACCTGGCTAATTTTTTGTATTTTTAGTACAGACAGGGTTTC AACATGTTAGCCACGATGGTCTCGATCTCCTGACCTGGTGATCCGCCCTC CCCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGA CCTCACAGAGTTTTAAGTACAGAGCAGGCCCTGCCTGACCTCATCACCTC CCAGATCTCAGCACACTGCAAGTCTAGCATCCCTATTTTATATGTGAAGA AACCAAGGCTCAAGAAGGCTGAGGGACTGCCCACACCGTGAGTTGGCTGT AGAGCCCAGACCCCAACAGGAGTCCAGGAAAACTGGTTTGAAATCCTGCT TCTGCTTACTGCTGCCTGTGTGGCCCAGGCCAGTCACTTGGCTTCTGTGA GCCTCGATTTCCTCTTCTGCAAGAGGGGTCATCACCATCTAACTGGTGGA GTTATTAGGAGGTAGGCAGGACACTGACTCTGTGCCAGGCTCCAAGAGTT TACAAATATTAATTATGAGGACTAACCCTCGTAACAGCTTTCTGAAGTAG ATGCTATTAGAGTCCCCATTTAATTAAGAGAAGACACCTGAAACCAGGGA CCAAACTGCTTTTTGAGAGGAGCCCAAGGTTTATACACTTCTGTCTCTGA GAAGAATACATGGCTGGGCATGGTGGCTCACACCTGTAATTCCAGCACTT TGGGAGGCCGAGGCCAGAGGATCACATGAGGTCAGGAGTTCAAGACCGGC CTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCCT GGCATGGTGGCATGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATCACTTGATCCTAGGAGGTGGAGGTTGCAGTGAGCCGAAATCGCG CCACTGCACTCCAGCCTGTGCAATAAGAGTGAGACTGTCTCAAAATAAAT AAATAAAATAAGAATTCATAATTATATCAACAGTAATGTCTCAGTTTCTC ACAGGACCCTTGGAGGGACCCCGGACTTCATCTGTTTTGTAGGATGCAGA GTCCTGGCTGAGGCGCTAACTTCTACCCTCCCCTGGGTTGGACTAAATGA GCTCTTGCTGAGCATGGTGACTCTCACTTGTAGTCCCAGCTACTCGGGAG GCCAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTTGAGAACGGCCTGGGC AACAAAGCAAGACCCCATCTCTACGAAACATTTAAAAATTAACCCAGCAT GGAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTT	C C	exon_loss_variant others(5): Show exon_loss_variant splice_acceptor_variant 3_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG00621.hp1 HG00621.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0101 a0005c0005t0002g0101	1	400	0.0025	-3941	c.251 others(13): Show c.251+1826_*775del	NDUFA7	ENSG00000267855.6	transcript	ENST00000301457.3	protein_coding	4/4			chr19	TogoVar
RASA3_chr13_113972783_114137623	113984701	CCATCACT others(3928): Show CCATCACTCACCCTGTCCATCCATCCATCACTCACCCATCTGTCCATCCA CCCATTACTCACCCATCCATCCATCCACCCATCACTGACCCACCCATCCA TCCATCCACCCATCACTCACCCTTTGGTCCATGAACCTAACACTCACCCA TCTGCCCATCCACCCATCACTCAACCATCTGTTAATCCACCCATCACTCG TCCATTGCTCCATCCACCCATCAGTCACCCATTGGTCCATCTGAATTCCT GCTGTCTGTAACCACCCAGCCTATGGTACAATTTTTACGGCAGCCCAAAC TCACCAAGAACTTGGTACTGAGAAGTGGCTGCTGCTGTACCTTCAAATGT GGACTGGCTTTGGAACTGGGTGCTGGGCGAAGGCTGAAGGGGTTTGGGGG TGCAGAGCGGAAAAGGCATGGCTGCCATGAATGTCCTTAAAGGACAATGC TGGGGGCTCGGGAGAGGAGAGCTGCAGAGAAGTCCTGTCTTAGGGGATAT CTAAGTAACCCTGAACAGAATGGTGGCATGAGCATGGGTGGCAAGGCTGT TCTAACAACATCTCAGACAGAAAGGACGGCCATGCTACTGGACCGTGGAG AAAAAGCCATCCTCGTGACAAAGTGGACCTGTGTTCATGCCCTCGTGTTC TGGGAGGGTGGAACTCGCGAGTGATGACATCAGACACGCAATTGAGGAGA TTTCTAAGCAAAATGCTGTGGGAGCGGCTTGGTTCCTCCTGACCGCTGAC AGCAAAATGGGGGAAGAGAGATGATTTGAAGGTGGAATTGTTGAGCAAAA AGGAACCAGAACTCAAAGGCTGGTTGAGTTAAAAGATTTGAGAATTAAAA TTCCAGCCTACCCATATCTCAAAAAAAATGAGACAGCATGTTTGGAAGAG ACCATTAAGCAGGTGGCTGTGTGGCTATCTGATAAGGAGACAAGTGTGGG GCTGAGCCTTGGACTTGACCAACCATCTCAGCAACAGCCGGGAGCAGAGA AGGAACCGCACCAGCAGAGGCACTGCCAGAAGAAACCAGGAAACAGAGAA AACAGGATGAAATGAAGGCAGGCTGCGGTGTCTTAAGCCCTACAAGCCAG GCCATAGAGCTATTCAGCTGTGAACATGTGCCATTCTTCAAGACGAGGGA AGAAGGACCCTGAAGTGGGTAGGGCCATCAGAATGCCACTCTCACCCAGA ATGAGTCCATGGACCATGTATCAGATGCAAAATTCTCAGCTGGAATATTG ATTAAAAAATAAAACTGGCAATAACTAGAAAAAAAATCGCAATAAGGAAT CTGTCCACCCAGCCATCACTCACCCATCCGTCCATCCACCCATCTGTCCA TCTACCCATTACTCACCCATCCATCCCTCCACCCATCACTCACCCATCCA TCCATCCACCCATGACTCACCCATCTGTCGATCCACCCATCATCACTCAC TCCTCGGTCCATCCACCCATCACTCACCCCTCAGTCCATCCATCACTCAC CCATCTGTCCATCCATCACTCACCCATCTGTCCATCCATCCATTACTCAC CCATCTGTCCATCCACCCATCACTCACCCATCCGTCCACCCATTCATCAC TCACCCATCTGTCAATCCACCCATCACTCACCCCTTTGTCCATGAACTCA ACACTCATCCATCTGTCCATCCACCCATCACTCACCCATCCGTCCATCCA CCCATCACTCACCCATCCGTCCATCCACCCATTACTCACCCATCCATCCA TCCACCCATCACTGACCCACCCATCCATCCATCCACCCATCACTCACCCT TTGGTCCATGAACCTAACACTCACCCATCTGCCCATCCACCCATCACTCA ACCATCTGTTAATCCACCCATCACTCGTCCATTGCTCCAGTCCACCGATC ACTCACCCATCTGTCCATCACCATCACTCACCCATCTGTCCATCCACCCA TCACTCAACCCTCGGTCCATCCTCTCATCACTCACCCTGTCCTCCACCCA TCACTCACCCATCTGTTCATCCACCCATCACTCACCCATCCTTCCATCCA CCCATCTCTCACCCATCTGTCCATCCACCCATCACTCACCCATCCGTCCA TCCACCATCACTCACCCATCCTTCCATCCACCCATCACTCATCCATCTGT CTATCCACCCATCACTCACCCCAGTCCATCCTCTCATCACTCACCCTGTC CATCCATCCATCACTCACCCATCTGTCCATCCGAATTCCTGCTGTCTGTA ACCACCCAGCCTATGGTACAATTTTTACGGCAGCCCAAACTCACCAAGAA CTTGGTACTGAGAAGTGGCTGCTGCTGTACCTTCAAATGTGGACTGGCTT TGGAACTGGGTGCTGGGCGAAGGCTGAAGGGGTTTGGGGGTGCAGAGCGG AAAAGGCATGGCTGCCATGAATGTCCTTAAAGGACAATGCTGGGGGCTCG GGAGAGGAGAGCTGCAGAGAAGTCCTGTCTTAGGGGATATCTAAGTAACC CTGAACAGAATGGTGGCATGAGCATGGGTGGCAAGGCTGTTCTAACAACA TCTCAGACAGAAAGGACGGCCATGCTACTGGACCGTGGAGAAAAAGCCAT CCTCGTGACAAAGTGGACCTGTGTTCATGCCCTCGTGTTCTGGGAGGGTG GAACTCGCGAGTGATGACATCAGACACGCAATTGAGGAGATTTCTAAGCA AAATGCTGTGGGAGCGGCTTGGTTCCTCCTGACCGCTGACAGCAAAATGG GGGAAGAGAGATGATTTGAAGGTGGAATTGTTGAGCAAAAAGGAACCAGA ACTCAAAGGCTGGTTGAGTTAAAAGATTTGAGAATTAAAATTCCAGCCTA CCCATATCTCAAAAAAAATGAGACAGCATGTTTGGAAGAGACCATTAAGC AGGTGGCTGTGTGGCTATCTGATAAGGAGACAAGTGTGGGGCTGAGCCTT GGACTTGACCAACCATCTCAGCAACAGCCGGGAGCAGAGAAGGAACCGCA CCAGCAGAGGCACTGCCAGAAGAAACCAGGAAACAGAGAAAACAGGATGA AATGAAGGCAGGCTGCGGTGTCTTAAGCCCTACAAGCCAGGCCATAGAGC TATTCAGCTGTGAACATGTGCCATTCTTCAAGACGAGGGAAGAAGGACCC TGAAGTGGGTAGGGCCATCAGAATGCCACTCTCACCCAGAATGAGTCCAT GGACCATGTATCAGATGCAAAATTCTCAGCTGGAATATTGATTAAAAAAT AAAACTGGCAATAACTAGAAAAAAAATCGCAATAAGGAATCTGTCCACCC AGCCATCACTCACCCATCCGTCCATCCACCCATCTGTCCATCTACCCATT ACTCACCCATCCATCCCTCCACCCATCACTCACCCATCCATCCATCCACC CATGACTCACCCATCTGTCGATCCACCCATCATCACTCACTCCTCGGTCC ATCCACCCATCACTCACCCCTCAGTCCATCCATCACTCACCCATCTGTCC ATCCATCACTCACCCATCTGTCCATCCATCCATTACTCACCCATCTGTCC ATCCACCCATCACTCACCCATCCGTCCACCCATTCATCACTCACCCATCT GTCAATCCACCCATCACTCACCCCTTTGTCCATGAACTCAACACTCATCC ATCTGTCCATCCACCCATCACTCACCCATCCGTCCATCCACCCATCACTC ACCCATCCGTCCATCCACCCATTACTCACCCATCCATCCATCCACCCATC ACTCACCCACCCATCCATCCATCCACCCATCACTCACCCTTTGGTCCATG AACCTAACACTCACCCATCTGTCCATCCACCTATCACTCACCCATCCATC CATCCACCATCACTCACCCATCCTTCCATCCACCCATCACTCATCCATCT GTCTATCCACCCATCACTCACCCCAGTCCATCCTCT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG00639.hp2 others(42): Show HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG01167.hp2 HG01175.hp2 HG01361.hp1 HG01433.hp1 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02559.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG04115.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18945.hp2 NA18954.hp1 NA18954.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp2 NA19079.hp1 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0011 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0002t0001 a0001c0003t0003 a0001c0005t0001 a0001c0009t0008 a0001c0011t0001 a0002c0004t0004	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(42): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0004g0066 a0001c0001t0005g0023 a0001c0001t0007g0033 a0001c0002t0001g0058 a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0022 a0001c0003t0003g0030 a0001c0005t0001g0016 a0001c0005t0001g0017 a0001c0009t0008g0048 a0001c0011t0001g0045 a0002c0004t0004g0001 a0002c0004t0004g0029	45	66	0.6818	-3935	c.224 others(19): Show c.2245+3849_2246-2844del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	22/23			chr13	TogoVar
HIBCH_chr2_190198920_190324826	190276671	TACCTGAA others(3917): Show TACCTGAAGCCCTCACCAGAAGCAGATGCTAGTGCCATGGTTCTTGCACA CCCTGCAGAACTGTGAGCCAAATAAAATACCCAGCCTCAGGTATTCTTCT ATAGGAACCCAAACAGACTAACACACCAGTCTTTAAAAATCTGTAGATGG CACCCATTTTTCTTCAGTTACCAATATAAAAAACACTGCATTTGCATAGT TAAATTCCCAGGACCCTCAATTATTTAGGGATGGACTAAATGACTGGTAT CACTGCTGACAAAAGAAGTACCTTAAATTTGACGGAGCTTATGTTGAGAA AAAAAGTTATTTTTATTTCTATCTTAATTAATTCCATTTTTCCACAAACT TTTTGACGTCCCCTCATATTAACTTAAGAAAATGCAACCCCAGATGTTTT ATATAAATGGCAAAAGAGATAAAAAAATTTGTCTTCCCCAGAAACAGAAT AAATTTAGTCATTTAAATATCTATTCATAAAAAAATTGTTTCTCTTTCAG AAACACTGGAATAATTTTACATAATTCTGATCTACCATGTGGAGAACCAC TCAGTAACATTCATTTTTATTTTACTGTATTTCAAAATACTGAGTAAATG TTTGAATTTCTAAAATATTAAAGATACTGTGCTACTCTTCATGGTGGGTA ACAAGAGAAAATAAAACTGTCATTTTCTATACTGGAAAAAATAAAACCTT CTATAACAAAAACAAAAGGAAAGCCGTGGGAACCAAGCTCTGTGGCGCCA TCTTTTGGACTGTACAAATTCTTAACAAAATTCTTTTACATTATTGTAAG AAAAAATTTATTGACCAGAATCAAGCAAGTACTATTCCTATGCCTTTTAA GCCCTGTTAGCTCCACGTTATTCTCACACTTCTGTACTAGGGTATGTTAA ATAAGCAGAAGCCATTGAACTGAGACTGTCTCTCTGCACTTTGAGTTCCT TCATAATAAATTGCAACCTTAGTAAGAAAATAAACTGAAACCTAATTTAA GAGTATAGTTTTGTAACAAACAGCCATGTTTCAGCCAATCATAGGCAGCC AACTGATCAGACCACACCCACAGAGAGTAAATATCTCATCACACCATGCC CAAATAAGGCAAATGCCTTGCGGTAGCCAATCAGGTAATTTCTCTAATTT GCTTCCACATTCAACCTATGGAAGCTCACTGCTCATGCTGCAAGGTGGAG CTCTCTCAACCTCTTCTGGTTCTGCATGCTGCCAGATTCATGAATTGTTC TTTGCTCAGATAAAGTGTTAAATTTGTATGAAGATTTTCTTTTAACAGAT TAAAAATGTATATATACTAAGCCTACACTAAGCAATTATGTGTAATACTA AAATTCTACTAAAAATTCTGAAAATAAAGGCTTTCTGAATAACAAACTGT AGTCTGAACACCTTACAAAAATTGTTCCTAAAGTGAACTCCCCTCCCCCT AGAATCATCATTACCTGAGAACTTGTTAGAAATGCAAATTCTTGGGCCAA ATTCCAGACTAAACTAGAGATGGGGCAGGGAAAGAATCTGCTTTTTTTTT TTAAGATGGAGTCTCGCTCTGTCGCCCAGGCTGAAGTGCAATGGTACAAT CTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAATTTTCCTGCCT CAGCCTCTGGAGTAGCTGGGATTACAGGCCCCCGCCACCACATCCAGCTA ATTTTGTATTTTTAGTAGAGAGGGGATTTCGCCACGTTGGCCAGGCTGGT CTTGAACTCCTGGCCTTAAGTGATCCGCCAGCCTAGGCCTCCCAAAGTAC TAGGATTACAGGCGTGAGCCGCCGTGCCCAGCCTAGAATCTGCTTTTTAA CAAGCCCTCCAGGTTACTCTGATACAAACTAAAATGTGAAGAACAGTCTT TGGGAGATTTAGAAAAAAGTCACAGGAGACACAACCACACACAAGAACCT GTAGAGCAGCAGTTTTTAACTTTACCTTCACATTGGTAACACCAGGGAGC TTTAAAAATGCCTAGGTCTCATAGCACCACTGCACTCCAGCCTGGGCAAA AGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAGCCTAGGTCTCA CTCCACTGTCCACTATCCAATTTAATGATTATGGGAGATAAGGTAAGCCT AGGCACTGGAATTTTAAAAAGACTCCCAAATAATTCTAAAGTGCCAACAA GGTTGAGCGCCAATGATCTAGAGGATTACATTTTCAGAAGCTAGAGTTCA TAAAACATCTTATATTAAGAAATGCTGGTGTCTTAAGTTTTCTGTTGCTG TAACTGAGTATCTGAGACTGGGCAATTTATAAAGAAAAGGAATCTATGTC TTACAGCTCTTCTGGAGATTGGGAAAGCCAAGGTTGAAGGGCCATATCTG TTGAGGGCCTTCTTGCTGGTGGGGACTCTCTGCAGAGCCCTGATCTGGTG AAGGGGCAAGAGCATGCCAAACTGGCTTTTAAAACAGACCCATTCCCATG GTAATTAAACCATTCTTCCTGTGATAACCTATTAATCCATGAATGGATCA AACTACTCTACCCTCATGACCCCATCACCTCTTGAAGGCCTCACTTCTTA ATACTGTTACATTCAGGATTAAGTTTCAACATGAGTTTCGGTGGGGACAA ATATTCAAACCGTAGCATTCCATCCCTGACCTCCCAAACTCATATCCTTC TCACATACAAATACATTCACTCCAGCTCCATATCCTCAAAGTATTGTTTC AGCACCAACTCAAAATTCCGAAGTCCAGAGTCCCATCTGTGAAGCCTGTG TAATCAAAACAAGTTATCTACTTCCAAGATACAGTGGTAGGACAGGTATA GGGTATACATTCCTGTAAAAAGTAAAGTAGAGGATCCTCTTCAAAGAGAC TTTCCTCCCTGTCTAATTAGGAATAAATAGTAAATTCTCTTAGAAGCAAA ATTTATTCAAAGACCTGTGCTAACATTCTTAGATATCTGCTAGCCTTAAT AAAGAAATCAATGTACTTCGTGTTCTTAGCTCCCACATTTAGCCTAAATA TTTGCCCTGGCATGCTTATACTGGTCCAAGCAAGCATTAGGTCATAGCCT GTTCCTCTTCCTTATTTGGAGGTGTTTTTACCTTTCTCAGCATTCCACAA GTTACTTCCTCCTTCCTTTGTTCTCCTCTGCCTTTGCCTCTTTTAGAAAG TTCTAAGTTGCTATCCAATTGGGACAAATACAGAATGTGAGGTCCCGTTC CAGCCAATGGAAACCGGACACAGCAGTAGGGTGAACGCGTCAGGTTATAA ATTACCCTGTCCCCTTTGTTCGCTGTACTCTTGTAGCAAAACTGCCGGCA AGTGTACTCTTTCTGCAGAAAGTAAAAATGGCCTGGCTGAGAAAATTAAA TTTATGTTCAAGTGCTATTTCTTTGCGGCACCGGGGAACAAGGATTTCTA ACATTCCCATTCTAAAAGGCAGAAATAGGCCAAAAGAAAGGAGTAACAGG CCTCAATTAAGTCTTTAAAACCCTGAGAAAGAAGACATTAACTCTTAAAG CTAGAGAGTAATCTCCATTCCATGTCTGAATCCTGTGCACACTGGGATGG GGTTGGAGAGGTGGGCCCTCAAGGTATCAACCCTACTCCTAGAGCTTTCT GGGCTCAACCAGTTAAGAGTAGGTAGCTAGGCAGACATGAGCAGGGCAGA GAGCTCCCCCACACCCAGAATGTCAGGTGACCATCAAGTGATGGTCAGGT GGTTGTTAAACTATCTCCCTAAAATAACTGGTCGCAGCTGGCAGCAGGGA AAGGCAGTCTCCCAGTAGACAGAAAACACCTGAAGCTCGTGATCAGCCGC TTCCCATTAAGATCTCAGGAGCTGGGCGAGTGGGCCCAAGCATGTGCATT TAGATGCAAAATTGCAGAGTTTAAC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0054 a0003c0003t0003g0054	1	366	0.0027	-3924	c.438 others(18): Show c.438+6991_438+10914del	HIBCH	ENSG00000198130.16	transcript	ENST00000359678.10	protein_coding	6/13			chr2	TogoVar
DLGAP2_chr8_732628_1713476	1013628	CGGTGCCT others(3914): Show CGGTGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCCACTGTGTGAG ACCAGGACAGACGATGCCTCCATTGTGTGTATGACCAGGACAGACGACGC CTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTGTGA CCAGGACAGACGGCGCCTCCACTGCGTGTGTGACCAGGACAGACGGTGCC TCCACTGTGTGAGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCA GGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCC ACTGTGTGTGTGACCAGGACAGACGCCTCCACTGTGTGAGACCAGGACAG ACGATGCCTCCACTGTGTGTATGACCAGGACAGACGGCGCCTCCACTGTG TGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACG ATGCCTCCACTGCGTGAGACCAGGACAGACGATGCCTCCATTGTGTGTAT GACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGGTG CCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGCGTGTGTG ACCAGGACAGACGGTGCCTCCACTGTGTGAGACCAGGACAGACGATGCCT CCACTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACC AGGACAGACGGTGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCCAC TGTGTGAGACCAGGACAGACGATGCCTCCATTGTGTGTATGACCAGGACA GACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGT GTGTGTGACCAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGAT GCCTCCATTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTGA CCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTC CACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTGTGACCA GGACAGACGGCGCCTCCACTGCGTGTGTGACCAGGACAGACGGTGCCTCC ACTGTGTGAGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGA CAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACT GTGTGTGTGACCAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGACG ATGCCTCCACTGTGTGTATGACCAGGACAGACGGCGCCTCCACTGTGTGA GACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGCCT CCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAG GACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCA CTGTGTGTGTGACCAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGA CGATGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGT GTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGAC GGTGCCTCCACTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTG TGTGACCAGGACAGACGGCGCCTCCACTGTGTGTATGACCAGGACAGACG ACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGT GACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGGCGCC TCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCA GGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCAC TGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACA GACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGT GTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGA TGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGAC CAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCT CCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACC AGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCA CTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGG ACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTG TGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACA GACGATGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGT GTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGG TGCCTCCACTGTGTGTATGACCAGGACAGACGATGCCTCCACTGTGTGTG TGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGAT GCCTCCACTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGA CCAGGACAGACGACGCCTCCACTGTGTGTGTGACCGGGACAGACGGCGCC TCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGAC CAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCC ACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGA CAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACT GTGTGAGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAG ACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTG TGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACG ACGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGT GACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCC TCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGAC CAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCC ACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAG GACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACT GTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGAC AGACGGCGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTG TGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGA CGACGCCTCCACTGTGTGTGTGACCGGGACAGACGGCGCCTCCACTGTGT GTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGAC GATGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTG ACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGC CTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACC AGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTC CACTGTGTGTATGACCAGGACAGACGGTGCCTCCACTGTGTGTGTGACCA GGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCCACT GTGTGTGACCAGGACAGACGAT	C C	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0007 a0001c0003t0013g0007	1	40	0.0250	-3921	c.73+ others(19): Show c.73+105664_73+109584del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
RAD51B_chr14_67814779_68483093	67903942	TTCCTTCT others(3912): Show TTCCTTCTTTGTATTCATGAGGACTCAGTGTTGAGCTTCTACTTACAAGT GAGGACATGCAGTATTTGGTTTTCTGTTCCTGCATTAATTAGCCTAGGAT AATGGCCTCCAGCTCCATCCATGTTGCTGCAAAGGACATGATTTATTCTT TTTTAATGGCTGCATAGTATTTCATGGTATATATGTACCACATTTTCTTT ATCTCGTTCACCGTTAGTGGGCATTTAGGTTGATTCCATGTCTTTGCTAT TGTGAATAGTGCTGTGATGGACATATGTGTGCTTGTGTCTTTATGGTAGA ATCCTTATATTCCTTTGGTTATATACCTAGTAGTAGGATTGCTAGGTTGA ACGATAGTTCTAAGTTCTTCGAAAGATTGCCAAACTACTTTCCACAATGG CTAAACTTATTAACATTCCTACCAACAGTGTATAAGCATTCCCTTTTCTC TGCAACCTTGCTAGCATCTATTATTTTTTGAGTTTTTAATAATAGCTATT CTGACTGGTGTGAGATGGTATCTCATTTTGATTTTAGTATACATTTCTCT AATGATTAGGAATGTTGACTTTTTTTTTTTTTTTTTTTGAGATGGAGTCT TGCTCTGTTGCCAGGCTGGTGTGCAGAGGTGCGATCTCGGCTCACTGCAA TCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGGCTCCCACGTAG CTGCTAAGCATGCCACCACACCCAGCTAATTTTTGTATTTTTTTCATATG CCTTTTGATTGTGTGTTTGTCTTCTTTTGAGAAATGTCTGTTTATGTCCT TTGCCCATTTTTAATGGATCTGTTTGTTTTTACTTGTTAATTTCCTCAAA TTCTCTATAGATTCTGGATATTAGATCTCTGTTAAGATACATAGTTTGCA AATATTTTCTCCCTTTAGGTTATCTGTTTATTCTGTTTATAGTTTCTTTT GTTGTAACAGATCTCTTTCATTTAACTAGATCCTATTTGTCAGTTTTTTT TTTTTTCAATTGCTTTTGGAGCCTTTGTCATGAAATCTTTGCCATCACCT ATGTCCAGAATAGTGTTTCCTAGGTTTTCTTCTATGGTTTTTGTAGTTTT AAGTTTTATATTTAAGTCTTTAGGCCATCTTGAGTTGGTTTCTGTATATG GTAAAAGGAAGGAATCTAATTTCAGTCTTCTGCATATGGCTAGCCAGTTA TCCCAGCACCATTTATTTAATAGAGAATTCAGTAAATGCTGCTGGGATTA CTTGTTTTCATAAACTTTATCAAAGATCAGATGGTTGTAGGTATGTGGCT TTATTTCTGGGTTTTCTAACCTGTTCTGTTGTTCTGTGTGTCTGCTTTGG ACCAGTACCATGCTGTTTTGGTTACTGTAGTCTTGTAATATACTTTGAAG TTGGGTAGTGTGATGCTTCTGGCTGTGTTATAATATTTTTGCTTAGGATT GCTTTGGCTTTTCAGGTTCTATATGAATTTTAGAATAGGTTTTTTTCCAA TTCTGTGAAAAATGTTGGTAGTTTGATAGAAATAGCATTGAATCTGTAAA TTGCTTTGGGCAGTATAGCCATTTTAACAATATTGATTCTTTCAATCCAT GAGCATGGAATGTTTTTCCATTTGTTTGTGTCATCTCTGACTTCTTTCAG CAGTGTTTTGTAATTCTTGTTGTAGAGATTTTTCACCTCCCTGGTTAGCT GTGTTCCTAGGTACTTTTTTTGTGTGTGTGGCTATTGTGAATAGGATTGC ATTATTGATTTGACTCTCAGCTTGGCTGTTGTTGGTGTATAGAAATGCTA CTGATTTTTGTACATTGATTTTGTTTTCTGAAACTTTGCTCAAGTCATTT ATCAGATCTAGGAACATTTGGGCAGAGATTATAAGGCTTTCTAGGTATAA AATCATATCACCTGCAAAGAGAGATTTCCTCTCTTCCTGTCTGGATGCCG TTTATTTCTTTATCTTGTCTAATTGCTCTGGCTAGAACTTCCAGTATAGG AGTGGTAAGTGTGGGCATCCTTGCCTTGTTCCAGGTCTCAAGGGGAATGC TTCAAGCTTTTGATTATTTGGTAGGATATTAGCTGTGGGTTTGTCATAGA TGAGTCTTCTTATTCTGCGGTATGTTTCTTCAGTACCTAGTTTATTGAGG GTTTTTAGCACAAAAGGATGTTGAATTTTATTGAAAGCCTTTTCTGTGTC TGTTGAGTTGATCATGTGGTTTTTGTTTTTAGTTTTGTTTATGTGATGAA CCACGTTTATTGATTTGCATGTTGAGCCAACCTTGCATCTCAGGAATAAA GCCTGGTTGATTAGGTAGATGAGCTTTTTGATTTGCTGCTGGATTTGGTT TGCTTGTATTTTGTTGAGGATTTTTGCATCTATGTTTATCAGGGATATTG GCCTGAAGCTTTCTTTTTTCATTGTGTCTCTGCCAAGTATTGGTATCAGC ATGATCCTGGCCTCATACAGTGAGTTAGGAGGGAGTCCTTCCTTCTGGAT TTTTGGGAATAGTTTCAGTAGGATTGGTATCAGCTTATTTTTTTACATCA GGTGGGCTTTGGATTTGAATCAATCTGGTCCAGGGTTTTTTCTGGCTGGT AGGCTTTTTATTACTGATTCAATTTCACAATTTGTTAGTTGTCTGTTTAG GGTTTCAATTTCTTCCTGGTTCAATCTTGGGTTGTTTTATATTTTCAGGA AATTATCCATTTCTTCTAGGTTTTTTAGTTTGTGCACATAGTGATATTTG TAATAATCTCTGAGGGTTTTGTGTATTTCTGTGGGGTTGCTGGTAATGTC CCCTTTGTGTGTTGTGATTGTGTTTATTTGAATATTCTCTCTTCTTTCCC TTCCTTCCTTCCTTCTTTCTTTCTTTTTTTCTTTTTTGACGAAATTTCAG TCTTGTTGCCCAGGCTGGAGTGCAATGGCACCATCTCAGCTCACCACAAC CTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGC TGGGATTACAGGCATGTGCTACCATACCCGGCTAATTTTGTATTTTTAGT AAAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAAGTCCCGACCT GAGGTGATCTGCCCATCTTGGCCTCCCAAAGTTCTGGGATTACAGGTGTG AGCCACTGTGCCTGGCCCTGGATCTTCTCTCTTTTACTTATTAGTCTACC TAGTGGTCTATCAATCTTATTCATTTTTTTCAAAGGGCCAGCTTTTGGTT TTGTTGATCTTTTGTATGGTTTTTCGTGACTCAATTTCATTCAATTCAGC TCTGATTTCAGTTATTTCTTGTCTTCTGCTAGCTTCGGAGTTGGTATGCT CTTGTTTTTTTGGTTTCTCTAGGTGTGATGTTAGGTTGTTAATTTGAGAT TTTTCTATGCTTTAGTTCTCTACTGCTGCTTAATATTTTGTTATAAAATA TAGTACCTTAAAACAACAATTATAATTTATTATATCTCATGGTTTGTGTG GGTGAGTAATTCAGATAAGGACTTGTTTCTGCTCCATGATGTCTGAGGCC TCAGCTAGAAGACTCAAAGACTGAGGCTGGAGTCATATGAAAGCTTGTTC ATGCCATTTTTTAGTTAATGCTTGTACCTGCTGGGGGTCCAGCTGGAACA TTCACATGTGGTTTTAATATTATCACTGGGTTTTTTTATGACCCTGCCTC CGGAGTTATTTAGCATCACTTCTGCTGTACTCTATTAGACAAGACTGTTA AAAATCTCCTCCTAGACTTACAGGGAGAGAATATGTCCCCTTCTGTCAGT TGGAGGAGCATGTATCATGTTGTAGAAAGAAAGTATTAAACAGAATAAAT ATATTGAGGTGGTCATCTTTAGAAAATACAGCTTACTACAGCATTTAAGG GAAGGTTTATTGTTGGGGGG	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	84	0.0119	-3919	c.756 others(19): Show c.756+16739_756+20657del	RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	7/10			chr14	TogoVar
ERBB4_chr2_211370717_212543802	211906513	GAAAGTAT others(3911): Show GAAAGTATAAATATTGATATCTATGATAGATAGATATCATAAATATCTTT TATCAGGTTCAGGGATACATGTGCAGGTTTGTTGTATGGATAAACTCATG TCATGGGGCTTTGTTGTACAGATTATTTCATCACCTAGGTACTAAGCCTA GTACCCAATATTTATTTTTTTTCTGATCCTCTCCCTCCTCCCACCCTCTA CCCTCAAGTAGGCCACAGTGTCTGTTATTCCCCTCTTTGTGTCCATGTGT CCTCATCACTTAGCTCCCACTTATAAAGTGAGAACATGGGGTATTTGGTT TTCTGTTCCTGCATTAGTTTGCTAAGGATAATGGCATCTTGTCTTTTAAT AAAAGGCCTCCTGTGTTGAAGTTGGGCACATTTCTTAGCTTCTCTTGAAG TTTGGCATGTCTATGTGCCTTAGTTATGGTCATTGGTATAAAGAGGCAGT GGTGTGTACCAGCGCTTGATTGTGCCATTAAAATAATGATATTTGTGTTC TTCTGACCTTTTTTCCATTCCAGCCACTAAATGTCTAACATAACAGAGTT GTCCTACCAGCTTTGCTCATCTACATCAGCGAGATTAACTGATACATTTC TTAAGTCAATATATCTTGGGGTCTCTTTTTAACAGAAGCTTAGCTTGTAT TTTCACTAAATATAATATCTAAGAAAAATATATTGACAAGGCAGCTGAAT ACTAAATGAGTCTGTGTTTAAGGGAGAGTTAAAGAATAGAGAAAGGCACT GGGAATCTTCAGCATCTAGATGATCTCTGAAGCCAGGGGACTGAATGAAC TGCTGATGTCAATTTATTTTCTTCAGACAGAAATAAATTTTCCCCACCTT TATGGGTCCACTCCACTATGATCAAGTAGGCACTGAAAAGCATGGCTTTT GCCTTTTTTTTTTTTCCTTTGGTTACTGCTGTATAGACCCACAGTACTAG CCAGAATACTAGAGACCATATAAGCCTATCAAACCCAGAGTTGAAAGTGA TTATTTGTCTTGGAAGAAGATCAAGTCATTTTATTTTACCATTCCTTATC TTACTATGCAGAGGCCAGACTCTTTTTTTCTTTCTACTTGGATATTTAGG ATTACAGTTTTGGTGCTGAATACTATGAGCTTCACTCTATCACAGTCACA TACTGAAGAACCCAGAAGTCAGAGATACTTTGTTTGGTCAGACTATACCT ATTTAAAAAAAAATAAAGTTGAGGGACTTAGGTAGTAAGTTTTGTCTTTC TAGAACCCACAAAACCCCACAACTCTCCATAGTGTTATAGGTCATTTCAA TTCACACAGGTATACAATTAATTTGGCACTGATAGGTATTTAAGTTTGGG AGTTTAAGCTAAAAATCATTTTTGGAAGAATTAAAACCTTATGCAAAAAG TTATACAGCATGTTTTATCTTGCAGAGATTTCTTTACTTTGCACACACGG GCTACTGAGACTTCATACTGAAACTTTATAGCCTAAATCCATGTATCTTT GTTTCTAAGAGTACCTTTATTGGAGCACTGGAAAAAAAAACATATTTAGG TATCTCCTTCAAATACAAGGTGAATTACTTTATACAGACAACACAAGAGA GGGGAGGCATTAGAGTTCACCAGTCTGGAAGCCAGGACCTAAGCTCTGAA AGTCCCAATGGGCCCTGAGCGGTTAAGGAGAGCTTGGGTGTTGATGACAG GTGTAAACATTCAGAAGATCACAGTTACAGTGACACTTTGTCTTAGAATT TATGTTCTGCAATTAGTTGATTTTCCTGACATTATCTTTCTAAAGTATTG TATATTTGGACCACAACAGGGCACAGAACTGGTCCCTTTTTCTTCTCTGA CAAAGGACCCTAGGATGAAGAACAATTACGTAGATTTTCTCTCTACTATT ATACTTGGGGTTTCAAATCTATTGAGGAATTTTGGCTCATAAAACCTTAC TTAATAAAGTCCTTCAATAATCTACTGTGGAAAAAATCGTATATAATTAA ATAAAATCACAGACATAGCTTATTATATATCGGTGAGTGTATACCAAATG TATATGAATACAATTTATTGAGCCATGATTCCGAACACCCACTGAATCAG GTTGTTCTCAGATTTGCCCAGCATTTTATGAAACCTATTATTCTTATTTG ACATTACTGCAATATAACAGACCATAGTGACATTTGATTACATTCCGTTT TATTATTGCTTTGTAGCAAATTGTTCTCACCAATAAGTGATAAAAATGCA GAGGCAATTGTAGTACAAACATGAAGACATTTATTCCTCTTTTGTGTTGT AAGATCATCCAGAAGCATATGAACAGCATAGACTTGGCCTTTATTTATCT CATCTTGAAATAACTGTATCACAAATAAAAAATTAATATATATTATAAGC TAGATAAGAGTACATTTCTAAGCTAATAAAAAAATTTAAAAATTATATAT GTTATAACTGGTTTCTTATATGTAACTTAAAGACTGATTGAAAAATGTAA AATATTAACTGATACATAAAAGCTAATGTCCCATGTAAATTATTAGAATA TTATAAACAAGTAAGCTACATACCCTGAATATTAATGTTCATATATGCTT AGTCTGTTATGATAGTATTCAATGTCTTTATAGTGTGAAATATTCTCTGC AATAAATATCCATAAGCTATTTCAAAGCATACCTTTTCCAGCACCCTTTT TGACAAATATTTCCTGGCAACGAGGAAATAAAACAATGTTGGTTGGATTT ATGTATTCAATTGCTTTAATATTTTTATTTTTCCATAATTATCATTAGGT CATGATTATATCTATTTATATATGGTCACGTGTTACTTAATACCTGGGGT AAGTTCTAAGAAATGCATTGTCAGGCAATTTTGTCATCGTGTGAACATCG TAAAGTACACTGTATTTACACAAACCTAGATGGTATAGCCTATTACACAC TTAGGAGAAATGATATAGCCTATTGCTCCTAGACTATAAATCCGTACATT ATGGTATTGTACTTAATACTATAAACAATTATAAAGACAATGGCAAGTAT TTGTGTATCTAATCATAGAAAAAGTACAGTAAAATATGGTATAAAAGGTT ACAAGTGGTACACCTGTATAAGGCACTTACCACGAATGGAGTTTGCAGTT AATTATAATCTTGAGACCACCATGGTATATGTAATGTGCTGTTGATGAAA ATGTTGTTAGGTGGCACATGACTGTATGTGTGTTTGTGTGTATGTAGGTT TATGTGTGTGTGTACACTCATTACTTTTCCATTTAAATACTCGATGTGAG GAGAAGATAACTAAGATAAATGACAAGAATGTCTAATTTTATCTACTAAT TAATATACTTTCCATAGTCTGGACAATCTTTCTGTATAAGTTAAGTTTAA TAAATTTTTGTTGTTGTTGTTGTTTGAGACAGAGTCTTGCTTGGTCACCC AGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCC AGGTTCAAGCAAGTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCATGCACCACCATGGCCAGCTAATTTTCGTATTTTTAGTAGAGACAGGG TTTCACCATGTTGCCCAGGTTGGTCTTGAACTGACCTCTGGTGATCCACC CACCTCAGCCTCCCAGAGTGCTGGGATTACAGGCATAAACTACCATGCCT GGCCAACTTTAATAAATTTAAATTGTTCATATTTGCAGATGATTAGCTTA TAGTTTAATTCTGATTTCACATTAAGTTAAAATAGTTTTATCTTTCTCAC TATGCCATAAAACATAATAATATTGTCTAATTTTCTTGTAGAGGCTGGAT ATGAGACCTTTCCCAAGATCACGTCCTTTCTCTTCCTGTGTTAGTTTGCT AAGGATAATGGCCTCCACC	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03239.hp1 HG01496.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0018 a0001c0001t0008 a0001c0002t0018	a0001c0001t0008g0004 a0001c0002t0018g0010 a0001c0001t0008g0004 a0001c0002t0018g0010	2	56	0.0357	-3918	c.421 others(19): Show c.421+36999_421+40916del	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	3/27			chr2	TogoVar
AP3S2_chr15_89825599_89898994	89842779	ATTTTTGT others(3908): Show ATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCAGGATGG TCTGCATCTCTTGACCTTGTGATCCGCCCACCTTGGCCTCCCAAAGTGCT GGGATTACAGGCGTAAGCCACTGTGCCCAGAAGACTCAAGGACTTTATAC CCAGTCAACTGTCCAGCAAGGGTAACAGAATGGGGACCATTATTCCCAGG TATTTCTTTTTTTCTTTTTTTTTGAGACAGAGTTTCACTCTTGTTATCCA GACTGGAGTGCAATGGCGCGATCTCCGCTCACCACAACCTCTGCCTCCCC GGTTCAAGCGATTCTCTTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGG CATGTGCCACCACGCCTGACTAATTTTGTATTTTTCGTAGAGATGGGGTT TCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCAAACTCAGGTGATCCGT CCGCCTTGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACTACACC CAGCCAAGTATTTCTTAAGGAATCTACAAAAGGAAGCACTTGTGCCAACT AACAGGTGACTGGAAAAACTATGGCAGGGCCAGGCCTGGTGGCTCATGCC TGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATTTGAGGTCA GGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAA AATACAAAAATTAGCCAGGTGTGGTGGCATGCACCTGTAATCCCAGCTAC TCAGGAGGCTGAGGCAGAATTGCTTGAACCCGGGAGGTGGAGGCTGCAGT GAGCTGAGATCGCACCATTGTACTCCAGCCTGGGTGATGGAGCGAGACTC TATCTCAGAAAAAAACAAACAAACAAAAGTTAGCTGGGCAGAAGTGGCAT GTGCCTGTAATTCTAGCTACTTGGGAGGCTGGGGCAGGAGAATCGCCTGA ACCCAGGAGGAGGAGGTTACAGTGAGCCAAGATCGTGCCACTGCACTCCA GCCTGGGCAACAAGAGTGAAACTCCGTCTCAGAAACAAAAACAAAAACAA AAACAAAAAAACTACGGCAAAAACTTACGGTGAGCACTGAAAACTACTTA ACTGTAGGTCTAAGACTAAAATAGGATTAGGGTAACAACAGATCGTCAAT ACTATATGCTTTGATGATGTATAAAACTCCAGCTAGCAAAAACTAGGAAG AGAAGAGGGGAAAAAGGAGGGAGGTAGAATACGAACACTGATTTCCTCAC CCTCAGTAACTGAGAGTCCATGGATAGCATTTAAAACTAAAGTAATAAAG ATATGGTTAATCTGACTTTTACTGTGACTTTTCCCGTGAATGTTCAAGCC TACCATCATTGTTATAAACAACAAAACTTTGAGAGCCACTGAACTTTTGG CTAGGGCCAAAAAACCCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCT CTCTCTTTCTTTCTTTACTTTTTTCTTTCCTTCCTTCCTTCTTTCCTTCC TTCCTTCTTTCTTTCTTTCTTTTTTTAGAGACAGGGTCTTGCTCTGTCAC CCAGGCTGGAGTGCAGTGCCATGATAATAGCTCACTGCAGCCTTGAACTC CTGGGCTCCAGCAATCCTCCTGCCTCAGTCTCATGAGTAGCTGGGCCTAT AGGCATGTGCCACCATGCCCAGCTTTTTTTCTTTTTTTTTTTAATTTCTA AGTAGAGATGAGGTCTTGCTATATTGCTCAGGCTGGTCTTGAACTCCTGA GCTCAAGGGATCCTCCCGCCTCAGCCTTCCAAAGCATTGGGATTACAGGT GTGAGCCAATGTGCCCAACCTAGAAGGATCTCTTCTGCTGATTAGAGTTT TTTGCCATTATTGCAAAAAACTCACCCAGAATGCATCATCTACAATTTCC AGTTTCTTAAAGTTAGAACTCAAACTGCTGTGAAACAGTAAGTACAGAAT CCTAGATTTTTAAGATCCTTCCACCTCTACTCTTCCATAGTTATCTTGCC CAAACCTAATTCAGCTTCATTTCCTTTTTAAAGTACTTGTCCTTCCAAAG CATTCCTCTTACTTTTCACAGAGTAATTTTCTTTTCTTTTTTTTTTTGGA AACAGTCTCACTCTGTTGCCCAGCTGGAGTGCAGTGGCACGATCTCGGCT CACTGCAGCCTCTGTCTCCCAGGCTCAAGCGATTCTCTTGCCTCAGCCTC CTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTTATTTTTT GTATTTTTAGTAGAGACGAGGTTTTACCATGTTGCCCAGGCTGGTCTTGA ACTCCTGAGCTCAGGCAATCTGCCTACCCCGGCCTCCCAAAGTCCTAGGA TTACAGGCGTGAGCCACCATGCACAGCCAGAATAATTTTCTTTTCTCCCT CATAATTTAATCTGTATATTATTTAATCAAATTACATAATTACAGTACCA GTTTACTGGCATAAAGAGATCTGGAAACATCACAACTGACCTTTGGTAAG CAAAATGACTCAAGTGTAAGTGAGCAATGGATGAGCGAACAGCTGCCCGT GTTAGTCCTGCTAGTCAGTTCAGACCTTGTCCACTGAATATGAAGTTGAC CATGAAAGATGGCTAACATTTCTCTGATTGGAGATAGATGGGACTTAAGA AAGTTGGAGGCTGCCAAGCATGGGTGTGGGAGCAAGCAGTCAAGAATCAA CACTGAACTCATGTACCTAAAGAACTGGAGATAGAGTCAGGGCACAAAGA AGGGTTCTGTTAAACAACAGAAGTTGGCTGATGCGCTGACCTTGAGGATG CCTGCAGAAATCTAAGTAAATACCTGAGAGAACACTGACAGATAAAGTCA CAAACCAACACAGGGAGGCTGGTAGGGAAAGAAAATCTGAGACGTGAGTC ATGTAAATGGTATTCAAAACCACAGGAACAGAAAGAAAGAGGCTAAGTCT TCGAGAGGCCTAAACTCAGCTTCACACAGTGTGCATTGAACAAATATGAA TTATGAAGTAATAATAATTCAACCTTCTACTCAGCAAGCATGGGAAATAA TGACACTAGCAAAATTCACTCAGAAGTGTTTATTAACAGAGTTTAAACAA AAGTGCTACTGATTTTTCAGTACTTGGCAAATCCAATGGTAATTCAACCT AAAAATAATTACAACCAGGATGAGTTTCATCTGACATAAAGATTAGGATA ACCCCAATAAACCAACAGGATATCTTGATATAAGGGGAAGGCAATAGAGA AAATGCTTCGGGTGATAAATCTGAAATCTTAAAAGGTAAAATGAGGCATA GATACTGATGTTTTCCAAGATCAAGATACATAAATTTATGACAACATTTT AGTGAGTGAAAGTCGGTGTTTTTAGCTCTGTCCTATTTAAATTTTTCTCT TGGAACCCCTGAAAATAGTCAAGAGTAGGAATGAGTACTGTAGTCAAAAT GTCAATTCCTCTAAAGACAATCTAACCTGTTATCGAGTCTCTCCACTCTC CCCCAACACCTCTGGACATCTGTGTCTCTTTATTTTTTTTTTTTCTTGAG ACATGGTCTCACTCTGTCGCCCAGGATGGAATACAGTGGCATGATCTCGG CTCATTGCAACCTCCACCTCCCAGATTCAAGCGATCCTACAGCCTTAACC TCCCCAGTAGCTGGGACTACAGGCCACATGCCACCACACCCGGCTAATTT TTTTTCTTTTTTTTTTGAGACGGAGTCTCGCTCTGTGGCCCAGGCTGGAG TGCAGTGGTGCGATCTCGGCTCACTGCAACATCCGCCTCCCGGGTTCAAG CAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCC ACCACACCCAGCTAAT	A A	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0041 a0001c0001t0010g0041	1	310	0.0032	-3915	c.346 others(17): Show c.346-8972_346-5058del	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
FGGY_chr1_59292094_59767730	59581052	CACATGAA others(3905): Show CACATGAAGTCATTTTCTTTCTTCCCTGAAATGCTTTGGGGGAGAAGACC AATCAGTCATCTTAGTGCTGCACCTCCATAGTGAGATCTGCATTAGGTTT TTGACCAAGAAGACAGTAATATTTTATGACAAAACTTGGAAAAGTTAAAA ATTCACAGATGAACAAATGCTTTTTCTCATTATTTATCTTTTTATTCTTT CCTATTTTTATTCCCTGAGACCATTTGCATGAGGGGAAATTTAATCAGGA TCCCTAGTTGAGAACATTTCTATTGGAGAAAATGGAACCTGGATATCAAA TTATCTCACAACTTCTTCTGAGTGACATACACTGAATTTTATCTTAAATA GCTTGTTTAGAAGCTATTGGTCACCAGCTTAAATAGCACCTTTTCATTAT AACATTGCTTCTGTTGTTGCATTCATAACATTTTATTTGCTAAAAATGTA TTAACTGTGTCTCTCCCATCAGTTCTTGAGCTTTGGAGGGCTGTGGCTGT GGCTTATTCATCTCTCCATACCCAAAGACTAGCATATAATAGACATACAG TAAAAATGGAAAGACTATATTGAGCTGCAGTCTACCCTGTCCAATTAAAA GTCAGTGGACATTTGTTGAATAACTGCTATGTGCCAGGTATTTTGAAATA TTTGGTGTTATTTAATCTTTATAGTGACCCTAAAATGCATTGTTATCCCT TAGTTATAGATGAGAGAAAGTACATAAGTGGTTTACCCAGCTAGTAAGTA GCAGACCTGTCTTTGAATGTAACCCATGTAAAGCAAAATTTTCTGTCCTT TCTCCTTTATTAGAGCTTAAGTGATCTTTCAGGGACCGATATGTTTAGCT ATCAACTCTGTAATAACATGAAAAATATTTATTTAGCTGTGATCATCTAT TTGATAAATTGTCAGAGTGATAAACCCAAAAGGAGCTTTAAAGATCATTC AGCCTGTAATCCCAAGGTGGAAAGATCACTTGAGGCCAGGAGTTTGAGAC CAGCCTGGGCAACATAGTGAGACCCTTCTCTCTTAAAAAGAAAAAAAAGC TGGATGTGGTGGTGGTGGGTACCTGTAGTCCCAGCTACTTGGGAGGCTAA GGCAGGAGGATCACTTGAACCCAGGAATTTGAGGCTGCAGTGAGCCATGA TCATGCCCACTGCATTCCAGCCTGAGAACAGAGCAAGAACTTGTCTCAAA AAAACCCCCAGAAATCATCCAATTCAGTATTCTAATTTCAGATGCAAAAA TTGAGTCCCAGAAGGGAAAAGGTCTTGGCCATTATTTCTTCTGTCAGTTG GAATCATGTTATTCTTCTCCTTTTGCACTGTCCTTACAGTAATTACTTTT AAATCCTTAGCAAGTCTGATTATCCCCTGCATGGTATGGCCTGTGATGAC CTCTCCAGCCTCACGTTGCACTACTACCCCTCACAGTTTCTGTCCTTCAT CTGTGGCATAGAACACACTCTATTCTCTGCTTCCTGTCCCTCTGCCTATA GCACCCTTCCCTCTACTCCTTCTCCTAAGTCCTACTTACCCTTCACATTT AGCTCAGGCATCTAATATCCTCTCGCTGGAAGCTTTCAGACTAGATTAGG TGGTGTATCTATGTGCATCCATGGTACATACCTGTCATGGTGCGTATCCT TCTGTGTTTGTTGTTAGTTAACTGGCTTATGTCTTCCTTGCTGTGAATTC CTTGAGGACAGATATTGCGGAGCATTCATTTCTATATCACCACGGCCTCA TAAAGCTCCTCACACAAAGTCAGCTTTCAGGAAATTTTGAAAGAAATAAT CACTCACTTGGATTCAGGTCTGAAGTGAGGCAAACATTAGAGATGTGATG GTGTTGAATACTCATCGTTTTTGATATTTTGAAGGCTCTCCCATGCTTGA GGATCCAAAGGAGTTTACCATTTTGTAATGCCACAGATGTGTACTGGTGT CTGTAATGCTCAGGTCCCATCCTTGAGCTTCACCAGGAACATCAGTAGGA AGATCTGGCACAGGCTATGTGGAGAGCCTCCTCACCCCATGCTGATGATC TCATAGTATCTGGTCACTGCCACTAAGGAAAAATAAATGCCTGCAGGTCC TTTTATACCATGATGTAACTAACTATAGGAAGTGTCCCTATGCAACATCT TTCATCTTACCTGAATCAAAGCTTCAATGAATGAAGTTCTCTTCGGCCCA TCATCCTGCAAGAAACTGGTAGGATGATGGCATTGGGAAGCTATAAGGGT GATTCTGACTTCTCTGAAATGACATACATTCCTTGTCAATATTATGTCAG CGGAAAACTTGCTAGCCTTAGAAATAAAAATAAAGGTCTTATTTTTACAT TGACACTTTCAATCTAGGTAAACTTGAATAATTCATTTGATATTTCAGAG GCTTCATTTCTTCATCTAAGAACATGAGGATCTTTTCTATTTATGGAGGT ATCTTGAGGATTGGTTGAAGTAGTGAGCATGAAAGGTCTCTAGAAAACCT TGGTTGTTTAGACATGTTTTAGGGACATTGAAATGGACTGCGCATGGAGG AAGCTTCATGGGGGGCACACCTGAGGGGCATTTCCTCAATGGGAGAGCAC CTTTGCCCTTCACAACATTCACACACCCCTCCTGGGTATTGGTGCCAGGC TAGTGCCCTGATCTGAGTCCACCTCTGAACAGTCACCCTCACCAAGATAC CCCGAGCCAGGAGAGCCAGTGGAGCACATCTAAGCCAAAGATGTCAAAGA GAGTGAGGAGTGAGAGGTCCAAATTCAACTGGAGACCCTCAAGATGAGAC CTGTTTTGAATGAGAGAGAGATGACCGTGCAGGGTGGAAGCAGGTCTGAT GCAGCTGACAGCTAACCACTGCTGCTCGGAAGTGTCGACGGCTCACCACT TATGTGTTGGCTTTTGTTCCTGGACTACTCAGGTGGTTTAAAAGACCAGG TGAAATTGAGGCAATAATGAATAGCTTACCAACCAAAAAAAGTCCAGGAC CGGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAATTGGTA CCATTCCTTCTGAAACTATTCCAGCCAATAGAAAAAGAGGGAATCCTCCC TAACTCATTTTATGAGGCCAGCAACATCCTGATACCAAAGCCTGGCAGAG ACACAACAACAAAAAAAAAGAGAATTTTAGACCAATATCCCTGATGAACA TCGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATTCAGCAGCAC ATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGCA AGGCTTGTTCAGCATACACAAATCAATAAACATAATCCAGCATATAAACA GAACAAACAACAAAAACCATATGATTATCTCAATAGATGCAGAAAAGGCC TTTGACAAAATTCAACAACGCTTCATGCTAAAAACTCTCAATAAATTAGG TATTGATGGGACGTATCTCAAAATAATAAGACCTATCTATGACAAACCCA CAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAA ACTGGCACAAGACAAGGATGCCCTCTCTCACCACTGCTATTCAACGTAGT GTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGTA TTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTTTGCAGATGACATG AATGTATATCTAGAAAACCCCATCATCTCAGCCCAAAATCTCCTTAAGCT GATAGGCAACTTCAGCAAAGTTTCAGGATACAAAATCAATGTGCAAAAAT CACAAGCATTCTTATACACCAGTACAGACAAAGAGAGAGCCAAATCTTGA GTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATAGCTAGGAATC CAACTTACAAGGG	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01891.hp1 HG02055.hp2 others(13): Show HG01070.hp1 HG01891.hp1 HG02055.hp2 HG02572.hp2 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02970.hp1 HG03486.hp1 HG04199.hp2 HG06807.hp2 NA18946.hp2 NA18965.hp2 NA19009.hp2 NA19063.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 others(2): Show a0001c0001 a0002c0002 a0002c0004 a0002c0016 a0002c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0004t0001 a0002c0004t0002 a0002c0016t0001 a0002c0017t0002	a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0126 others(13): Show a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0002g0156 a0001c0001t0003g0012 a0002c0002t0001g0001 a0002c0002t0001g0071 a0002c0002t0001g0076 a0002c0002t0001g0078 a0002c0002t0001g0093 a0002c0004t0001g0112 a0002c0004t0002g0095 a0002c0004t0002g0109 a0002c0004t0002g0116 a0002c0016t0001g0054 a0002c0017t0002g0081	16	164	0.0976	-3912	c.904 others(19): Show c.904-26748_904-22837del	FGGY	ENSG00000172456.18	transcript	ENST00000303721.12	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA31C2_chr9_88124305_88143475	88135612	AGCCATTC others(3905): Show AGCCATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCA CCACCACCACGCCCTGCTAATTTCTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTGTTAGCCAGGATGGCCTCGATCTCCGGACCTTGTGATCTGC CCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCC CATCCTTCTATCTCACTTTGAATCAAAGGGACCTACCCACATACAATTAA GATTTTTTTAAAATTCTATTTATGTACTTATGTAATTTTATTTTAAGTTC CGGGGTACATGTGCAGGACCTGCAGTTTTCCTTTCTTTTTGAGATGGAGT CTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGCTCTTGGCTCACTG CAACCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCATGTGCTACCACGCCCGGCTAATTTTTTGTATT TTTGGTAGAGACTGGGTTTCACCGTGTTGGCCAGGATGGTCTTGTTCTCC TGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGTGCCGGGCCTGCTGTCTTATTTTAATGTCTCTCTGGGC TTGATAATTTAAAAGGACTGGCATTCCTCTGATAAAAGTTATTTTATTTT CTCATTTTCCATCAATCTATCCTGTTCAGTGAAATATCGGTTCGTGCCTT TAGCCCATTTTCTAATTGGCTTGTTTTTTCTTGTTGTCGTTGTTGACTTT TGAAAACTTTAAACAATATTCTAGATATGAGCTCCTTGTCAGATATGGTT TATCAGGTGTGGTTTGCACTTTTCTTCCAGTTTTTACCCTGTCTTTATTA ACAGGCTCTTATGCAGGGCAAAAGTTTTAAATTTTGATAACATCCAATTA ATAAATTCTTAGAATTGATTGTGCTTTTCTGGTTCATGTCTAATAATTAT TCATCAAGTCCTAGGACCTGAAGAATTTCTCATTAAATTTCATATTTTTA CATTGAGATGTGATCTTTTTTTTTTTTTTGAGATGGAGTCTTCCTCCATC TTCATATCTGACCACCATTGGTATCTAATTGGTTTTCTTATTGTCTACCA TCCCCAGGTGATATCTGATCACTCTGGCATGGCTTCAGCAAGAATTCTGT GAGGTCAGTTTAGCCAGATTCCCTCCTATTAGTAATTTTCCATACACTAC CACCCCTCCACCCTGCTCTGTGGCTATAAAATTTCTATTCAGAGGGAAAC CTGAATATATGGAAACTGGAGATTACTGCAAGACCCTATTGCAGTAATCT CTATATCTATTGCAATAATCCCTCTGAATAACGTTTGTCTTACTATTTTT TAACAGGTGTCACGAATAGTTTTTTCTATAATACAGCTCAACAAAACAAG TCTGAAATAGAAGAATAAAGTGGGAGGAATTATTCTACCCAATTTTTTAA CTTTTTACATAGCTACAGAAATCAAGACAGTGTGGTATTGGCAGGGGGAC AGACAGTTCAATAAAACAGAATTGAGAACTCAGAAATAGTTCCATACAAG TACAACCAACTGACTTTTGAAAAAAGTGCAATATCGGTTCAATAGTACAG TGGTTCTGGAGCAGTTAGATACCATAGACAAAACAATAACCTCAATCTAA CCTCATGTCTTTATTAAAAAAAAAAAGGATCAGCCGGGCGCGGTGGCTCA TGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAA GTCAAGAGTTTGAGACCAGCCTGGCCATGGTGAAACCCCATCTCTACTAA AAATACAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAATCCCCAGCT ACTCAGGACGCTAAGACAGGAGAATAGCTTGAACTCTGGAAGCAAAGGTG GCACTGAGCCGGTATCGCTCCATTTCACTGCAGCCTGCACAAAAAACAAA ATAAATAAAAATAACACACAAACACACACGCACACACACAGGGATTTTCA ATATGAGGTCCACCATGGACGCCATCAGTCCCTGTTCCTCTGCTCCAGGA ACACCCAGGCTCAGGCCCGCAGGCACCACTGAGCTGTCAGGTAGCATTCT GCTTGCCAGGAGACCAGAGGAGATGCCAGGCCCCGGTGGGAGGCCCTCGG GGGCCCAGCACAGGCCCCATATCACCCCACACAGAAGAGGCTGGGTCCCG AGCCACCTGCCCCAGGAAGGGACTGATGAGCCAGGGCTCAGGGCCTGGCC TCGGACAGAGACCTCCCATCTCATGACCAGAGACCTCCCCCGTCTCATGA CCAGAGACCTCCCCCGTCTCATGACCGGTCCTGGCCGCTGAGCCCACGGG TTTGATTTTGCCTTCATGCCTCCTGCGCTCCCCCACAGATGGACTGAGAG CTTGGGATGGAAATCCCAGTACACGATCTACCCCTACCAACCCCTGGCTG CCCTGCCTCTCCCTGGAAGCATGCTGTTCTGGTCTCTCCTGAGACTTCCC ATCGCAGAAGTCTCCACTGGATTTGGAAAGGTGGAACTAATAATAAAAAG AAAGAAGAGAATCAAGCTCTGTGGGTCTGGACTGAGAGCTCCTTACCTTT CTCTTCCTAGGCGATGGTGAGGGTGGGTTGTCACAACGGAGGTAAGAGAA GTAGGGGAGTAATAGGAAGAAGAACCCCAGGGCAAACACCAAGGTGAGGA AGATATCCAACACCCATGGTGTGGAGCTGGGGGTGTTTAGTGATGAGGCA CTAAGTAATTTTAGAGGAAAGGGAAGATTCTCCATGTGAATAGGCGCATT GCTTTCTAGCAACTGAGCTCTGGGCATCCTCGTGGAGACTAGGGACTGGG GCCCAGGCCCGCATCACAGAGCTGGGGCTTCACATCACAAAGGGCTCCTT TGTTGGGGAGGGGCAGTAGGAGGGGGAGGCCGAAGCACAGCCCCTCCCCA CCCTCCAAGCCGGGGATCCCTTCACCCTCCCGCCTTCCAGATCCCTCCTT CGCACTAAGTTTTGTCAGTGATAGAACTCAGCCAGTTTTCTATTCTTTCT CCCTGGAACACAGATATTACCTGGTTCCTTTTATCTGTTGGAGTCGGTGG CTTGAGGTTACCTATTTCATAGCCTTTGAAAATCTGTAGTTGACTCTGAA ATTTTGGCTATGTACCAGGGATTTTTATTTTCAGAATCTCGTTCGTCCTC AACTCCAGCTTTCCCACACAATGTTTTTGTCTTCTGTGAATCCAGGGACA AAATGTAAATTTCTTTTACTCTTATTTAGTTTTGCAAATTTTGAATAGTA AGTTTTAAAAAATTATTTCTATCTCACTTTCCTTTTTTTTTATTTTTTTT ATTTTTTTGAGACGGAGTCCCTCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGTGATCTTGGCTCACTGCAAACTCCGCCTCCCGGGTTCCAGCCATTCTC CTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCACCACCACCAC GCCCTGCTAATTTCTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGCCTCGATCTCCGGACCTTGTGATCTGCCCGCCTCTGC CTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCATCCTTCTA TCTCACTTTCAATCAAAGGGACCTACCCACATACAATTAAGATTTTTTAA AAATTCTATTTATGTACTTATGTAATTTTATTTTAAGTTCCGGGGTACAT GTGCAGGACCTGCAGTTTTCCTTTCTTTTTGAGATGGAGTCTCACTCTGT TGCCCAGGCTGGAGTGCAGTGGCACGCTCTTGGCTCACGGCAACCTGTGC CTCCTGGGTTCAT	A A	exon_loss_variant others(1): Show exon_loss_variant splice_region_variant	HIGH	HG03490.hp1 HG03490.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0007 a0002c0001t0001g0007	1	444	0.0023	-3912	c.-10 others(14): Show c.-1078_190-1944del	SPATA31C2	ENSG00000177910.9	transcript	ENST00000324915.6	protein_coding	1/4			chr9	TogoVar
GNB2_chr7_100668740_100684169	100668951	AGTGGCTC others(3904): Show AGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGA TCACGAGGTAAGGAGATCGAGACCATCCTTGCTAACACGGTGAAACCCCG TCTCTACTAAAAATACAAAAAATTAGCCGGGCCTGGTGGCACGTATCTGT AGTCGCAGCTACTCAGGAGGCTGAGGCAGGAAAATCACTTGAACCCAGGA GGCAGAGGTTGCAGTGGGCCGAGATTGCGCCACTGCACTACAGCCTGGGC GACAGAGCGAGATCCGGCTGAGTGCGGTGGCTCACACCGGTAATCCCAGC ACTTTGGGAGGCTGAGGCTGGCGGATCGCTTGAGGCCAGGAGTTCGAGAC CAGCCTGGGCAACATGACAAAACCCTGTCTCTACAAAAAAAAATACAAAA AATTAGCCAGGCATGGTGGTGTGCACCAGTAGTTCCATCTACTGGGGAGG CTGAGGTGAGAGGATCATCTCAGCCCAGGAGGTCGAGGCTGCAGCAAGCT GTGATTGCGCCACTGCACTCCAGTCTTGGTGACAGAGTGAGACCCTGTCT CAAAAAAAACAAAACCAAAAACACCAAAAAAAATTTTCTCCATAGGCACT TCAAACCTAAAACTTCCCAATCTTAAACTCTTGATCTTCCTCCCAGAATA TGTTCCATCTCAAATGTTCTGCTCGAAGTAAACAATACCTCCAGGCCAAG CACTGTTATTTTTTCATTTTTGTTTGTTTGTTTTGTTTTGTTTTGTTTTG AGACAGGGCCTGGCTCTGTCACCCAGGCTGGAGTGCGGTGGCAGAAATTC AGCTCACCACAACCTTTGCCTCAGGAGTTCAAGTCATCTTCCCACCTCAG CCTTCCGAGTAGCTGGGACTACAGGCGCACGCCACCATGTATTTCTTTCT TTCTCTCTCTTTTTTTTTTAACGACGTAGTCTTGCTATGTTGCCCAGGCT GGTCTTGAACTCCTGGACTCAAGTGATCCGCCCACCTCTGCCTCCCAAAA TGCTGGGATTACAGGTGTGAGCCACCACGCCTGACCCTAATCCATATTTC AATGCCCATCTGCCTCCTCTATAGATTGCAAGCTCCATGAGGAGGGTGCA CCTGTCATTCAAGGTTGCATCCTCATTGCCTAGGGCAGTGCCTGATACAT CATCCGGTTCAGTAAATATCAACGGAATGAGTTAAAACAGGAAAGCTTAT TAGCACAGAAACCAAAGCAGCACACATGCCCTCTTGAGATTGACAAAATT GTGCTGTAGTCCTGCGCTGCTTGTTGTTAAGTGACTTTAGGGAAGTCATC GTGGCCATCTACAGATTGAGGAAATCAACGTAATTATCTCTGAGGTCCCT CCCAAATTCTCATGTGTAGTTGACATCTGTTATCTATTGCTTATATGTCA CTGAATTGGCAGGTATGCATAAATAGAATTTGCATCTAACTACGAATACG ATTGTTTATATTTTCTTTAAAAAAATATTGGGCTTTTGTTTCTCATATTG AGAGCTCTGTTATGCCATTTTCGAATTTCTCCCAGATGTCCCCCCCGGCC CACCTTCAAACTCTGCTTCCTTAGACAGATTTGGCAATAGCTTTGTAAGT GATATGGACATAATTGCCTAAAATAATGAAAACCTACAGGATTCTTTTTT CATTTTCCCTTTGGCATGTTTACAATTCCCTGCCCCACCAGGCAGATCAT TCTGTGTGTGTGAGTGTGTGTACCCATTACAAAGACAACTACTATGTTCA TAACATATTCGATTTGGAAAAAACAATTGTAGGCTGGGCACGGTGGCTGA CATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGT CAGGAGTTCAAGACCAACCTGGCCAACATGAAACCCCATCTCTGCTAAAA ATGCAAAAATTAGCCAGGCCTGGTGGCATGCTCCTATAATCCCAGCTACT CGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAAGAGGCAGAGGTTGCA GTAAGCCGAGATTGTGCCATTGCACTCCAGCTCTGGGTGACAGAGCAAGA CTCCATTTCAGAAAAAAAAAAAAAAGAAAAAAGAAAAAACAATTGTTTTT GAAAAGTGATTTGTAATGTCTTTCACAGAGACTAAATGAAGAGTATGTTT TGATACTTTTTAAAATATAATTTCATCTTTTTAGATTCTGACTCATGTGC ACATGAATGTACCCATGTACATGGGTATATCTTGTGATGCTGAAGTTTGG GGTACAATTGATCCCGTCACCTGGGGTACAGTACCCAATAGGTAGTTTTT CAACCCTTCCCCCCTCTAGTAATCCCCCGTGTCTATTGTTCCCATCTTTA TGTTCATGAGTACCCAGTGTTTAGCTCCTACTTATAAGTGAGAACATGCA GTGTTTGGTTTTCTGTTCCTGCAGAAATTTATCCACTTAGGATAAAAGCC TCTAGCTGCATCCATGTTACTGCAAAGGACACGATTTCTTCTTCTTTTCT TTTCTTTTGTTTCTTCTTTCTTTCTTTCCCTTCCTTCCTTCTCTCTTTTC TTTCTCTTTCTCTCTCTCTCTCTTTTCTGCATCCATGTTGCTGCAAAGGA CATGATTTCTTCTTTTTTCTCTCTTCCTTTCTCTTTCCTTTCTTTTTTTC TTTCCTTCCCTTCCTTCCCTCCTTTTCTTTCTTTTACTTTTTCTTCTTTT GTCTTTCTTTCTTCTTCTTGAGTCAAAGTCTTGCTCTGTTGCCCAGGCCG GAGTGCAGTGAGTGGTGTGATTTTGGCTCACTGCAACCTCCGCCTCCCGG GTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGT GTGTGCCACCACGCCCAGCTAATGTTTGTATTTTTAGCAGAGACGGGGTT TCACCATATTGGCCAGGCTTGTCTCAAACTCCTGACCTCAAGTGATCCAC CCGCCTCGGCCTCTCACAGTGCTAGGATTACAGGCGTGAGCCCCATCTCG TTCTTTCTTATGGCTGCGTGTTTTGATACTTTCAAATTACAAGGACTCAG TGAAGGCTATTCGTTGCCTTGAACTTCCCAAAGCATTTCCACAATCGATG GGGTTCTCAGTAAGAATCCGGGACTTGGAGGGCAGATGCTGTCAACATCC CCATTTAACAGATGTGGAAACTGAGGCCTAGACCTACGTTCTTGTCCCTT TACAGGCAAGGTCCCTGGAGGAAGGGGTTCATCTAGAGGCTCATACAGAT AAACTGGAATGTACAGTAAAGTTTTGGCTGCCTGGGTTCATATCTAAACT CTGCAGCCTCAGGTCTCTTTCCACTATTAGAAAATGGGGAGAAGGCTGGG CGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGC ACATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCGACATGGTGAAA CCTCGTCTCTACTAAAAATACAAAAAAAAATTAGCTGGGCATGGTGGCGG GCGCCTGTAATCCCACCTACTCCAGAGGCTGAGGCAGGAGAATCGCCTGA ACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTTCA GCCTGGGCGACAGAGTGAGACCCTGTCTCCAAAAAAAAAAAAAAGAAAAG AAAAGAAAATGGGGAGAATGTTAGCACTTAATTTCCCAGTATTGTGAGAC TTAACATATGTCAGCCTGGGCAGCATAGCAAGACCCCACCTCTACCAAAA ATTTAAAAATTAGCTGGGCATGGTGGCTGGGGCACGCCTGTGGTCCCAGG TACTAGGGAGGCTGAGGCAGGAAGATCACTTGAGCCGAGGAGATTGAGGT GGCAGTGACCTACAATCGCGTCACTGTACTCCAATTAAAAAATAAGTGTC GGGCCAGGCGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	372	0.0027	-3911	c.-50 others(11): Show c.-5061_-1151del	GNB2	ENSG00000172354.10	transcript	ENST00000303210.9	protein_coding		4788		chr7	TogoVar
CNRIP1_chr2_68288010_68324949	68301708	AGTGAAAC others(3897): Show AGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTGGCCCAGCGTGGT GGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGTTTGCGCCACTGCA CTCCAGAGCCTGGGCGACAGAGCGAGTCTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAATACTAAGCAACCTTAACAAATAGCCAGTAGAATAAGTGAAT TTAGCAAGGCTTCAGGATACAATATTAACTTATAAAATTCATATTTCATA AAGAAATATGCCAGCCCTGAACAATTATCTTTATTATTTCACCAATTTTA CATGAAAGTTGACATTGTATTACTTACCAATAGTGAGATAAAACCATTTT TCATATATTTATTGGCCACTTGTATTTCTTTTATAAATTGCCTATTTATA TCTTTTGCTTAATTTCCTACATCTTATGATTATCTCTTACACATTTCTAA TAATTTGTTGTATAAAGTCACAGCTTTCACCAAATACTAGACCAGACAGC TGTCACGAGGACCAACTTCTATATTTGGAAGGCTATTTCCCTCCACTCAC ACATACTCAGCCTCATTACCACCTCATATACCTCCCTGCCTTCTTCCTCC AAACTCTCACCAGTCTCCCAGTGAAGAGGGCCAACAAAAGGGATTATGAT GATGATTCGTGCAGACAGACTCTCTATCTGGCCTTTCTCCTTGGAGGGAC TGATTGGGAATTAGTCACACTGCTCTGTGAAATGGGGTTTGAGAGGCATA AAGTTGGGTGTCACTTTATTAGCTCCCAGTACCAGGGCCTCTAGAATTAT CTGAAGATCATTGCCATTAATCTAAGTCAGATGGCATTTGACTATTTCCT GACTTCAGTGGCCACTCACAGCTTCAGCAGGCAGTAAAGGGCTGTGAAAT GTCATTGACAGTAGCTGCAGTGTCACTATGGGCAGTGGCAAATCAAGGCA ACACAGCTTAGGAGACTATACATGTTATCAATGATTTTTTCACCAGTTCA CTTTGAAGTGTGATATCAGAAAAGAACAGTAACGTTTCCCCCAAATAGCC AGTTATCCCAGAATCATTTATTCAATGATTTGAAAAACTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCCCTGTCGCCCAGGCTGGAGTGCAGTGGT GCGATCTCGGCTCACTGCAGGCTCCGCCCCCCGGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCTCGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCC AGGATGGTCTCGATCTCCTGACTTCGTGATCCACCCGCCTTGGCCCCCAA AGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCGGCCGAAAAACATTTT AAACTACTTGGTATCAACTTTGGACTCTTAAGCAAGACTCAAAAGACAAT AATAGCTAGGATATGTCATCAGAGTTGAAAGGAAATATTATCTTAAAGCA GAACTGCAAATACTAAAATTGCCAGAATTTTAATGAGGTCTTAGAGGGCT AATAAGCTACCTTTCACTTAAAATATCCTGAGCACTGGGTAAGTGTGGAG AAGGTCATCATAAATGAGACTGTTTCCTCTCTTCCAAGTACTCAGAGGGC AGAGAGGAGACCTCCCCAACTCCTCTCTGGAGCTGACCTGGCTTGGGGAG ACCTGAGCTGTAATTTCCTGTTCACCTCCTCATGCTACTACTGCTCCCTC TGGGCCTCTGGTCTTAGCAGGTTGGATTCACACTTCTTTTGCTTTAGATG TAAACAGAACACTAGGAAAGAAGATTAATTCAAACAGTTTCAAAAGCACT CGATTCAAAACTTCTTCCTATTTGGATCTGTAAAGTAAGAATTTCTATAT CTTTTTGAATAGCTGAAGCACAGGGTCTTCTTCTGTTTTAATGTGAAAAT GATTCAGACTTAGTCATTAAAACAAAGATGTTATTACCTACCATAAGTCT TATTTGCCTGTCCAGGCATCCATTAAAAGGTTGGAGAGTCCAGGCGCGGT TGCTCACCCCTGTAATCCCAGGACTTTGGGAAGCCAAGGCAGGCAGACCA CCTGAGGTCAGGAGTTTGAGACCAGCTTGGCAAACATGGTGAAACCCTGT CTCTACTAAAAATACAAAAAATTAGCTGGGTATGGTGGTGCATGCCTGTA ATTCCAGCTACTTGGAGGCTGAGGCATGATAATTGCTTGAACCTGGGAGG CAGAGGCTGCAGTGAGCCAAGATCACACCACTGCACTCCAGACTGGGCGA CAGAGCAAGACTGTCTAAAAACAAACAAAAAAAACAAACAAAAAAGCCAG CCAGGTGCAGGGGGTGCATGCCTGTAATCCCAGCACTTTGGGATGCTGCA GCAGGCAGATAACCTGAGTTCAGGAGTTCAAGACCAGCCTGGCCAACATG GTGAAAACCCTGTCTCTACTTGAAAAAAAAAAAAAATACAAAAATTAGAT GGGTGTGTTGGTGGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCA GGGAGAATTGCTTGAACCTAGGAGGTGGAGTTTGCAGTGAGCCAAGATCA CGCCACTGCACTCTGGTCTGGGTGACAGAGTGAGACTCCATCTCAAAAAA AAAATAAAGTTGGAGAGCCTTAGCTTAGTTACTAGATGATTTGAAGGTAT GTTTTAAGAAAAAGGTCTGCGGTCCCTAACTGTAACTCGTGAATCCAGCA GTAAAGGCTAGGTTTCTATATGTGAATTTTCACATCTAGAAGCAGCAGCT GATTGACAGTTGATTGTTCCCCACCATGATCACATAGGTTTTGGTTTGAG CACTGGTCATCTGGTTGTCTTTTTTTTTTTTTTGAGACAGAGTCTCGCTC TGTCACCCAGGCCGGAGCAGTGGTGCGATCTCAGCTTACTGCAAGCTCCG CCTCCAAGGTTCATGCCATTCTCCTGCCTCAACCTCCCAAGTAGCTGGGA CTACAGGCGTGTTTGTATCTTATTTCTAATAGGCTGATAATAAAGAAAAT GATTGAAAATATAGGTTTTCTGATCAAGTCACCAGCTCCTATATTAAGTT CAAATTTTTATTCTAGTCTTGAAGCTTTCAGATAGCCAACACAATCCAAT GACATTTTAAAGTCACCAACATTTCAAACTTATGTATTAAAAAATATAGA CACTGGGCCGGGTGCAGCAGCTCACGCCTATAATCCCACCACTTTGCGAA GCCGAGGGGTGTGGATCACCTGAGGTTCGGAGTTTGAGACCAGCCTGACA AACACGGAGAAACCCTGTTTCTATTAAAAATACAAAATTAGCCGGGCATG GTGGCACATGCCTGCAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAAT TGCTTGAACCCGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGCGCCATCG TACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAA AAATATATATATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTACATATAAAACATATATAATATATATTTAAATATATATAGACAC CACACTCTCATGGACAATTGTGAAAACTTGACATGTCCAAGTAAATCCAA TCAATTAATTAGCAAGTCCCTGGATTATTCAGATTTCGTCAAGGGAAATG TCATCAGTGTGGGTGCCTAAGTCAAGTCAGAAATGTCAGAATTAAAACTG GAAGTAGGCCGGGGGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GGCCAAGGCGGGCAGTTCACGAGGTCAGGAGATTGAGACCATCCTGGCTA ACACG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	422	0.0024	-3904	c.330 others(18): Show c.330+11545_331-7683del	CNRIP1	ENSG00000119865.9	transcript	ENST00000263655.4	protein_coding	2/2			chr2	TogoVar
TMEM123_chr11_102391332_102457765	102432853	GGTCAAAG others(3894): Show GGTCAAAGTACAGCTCAGGCCATTGCTTCAGAGGGTGCAAGCCCCAGGCC TTGGTGGTTTCCATGTAGTGTTGAGCCTGTGGGTGCACAGAAGTCAAGAA TTGAGGTTTGGGAACCTCTGACTGGATTTCAGAGAATGTATGGAAATGCC TGGAAGTCCAGGCAGAAGTTTGCTGCAGGTGTGGAGGCCTCATGGAGAAA CTCTGCTAGGGCAGTGCAGAAGGGAAATGTGGGGCTGGAGCCCTCACACA GGGTCCCCACTGGGGCACTGCCTAGTGGAGCTGTGAGAAGAGGGCCACTG TCCTCCAGCCCCCAGAATGGTAGACCCATCAACAGCTTGCACTGTGTCTG GAAAAGCCACAGACACTCAACGCCAGCTAGTGACAGCATCTGGGAAGGGG GCTGTACTCTGCAAAGCCACAGGGGTGGAGCTGCTCAAGGACATGGGAGC CCACCTCTTGCATCAGCACGATCTGGATATGAGACAGAGTCATAGGAAAT CATTTTGGAACTTTAAGGTTTAATGACTGCCCTACTGGATTTCAGACTTG CATGGGGCCTGCAGCTCCTTTGTTCTGGCCAATTTATCCCATTTGGAACA GGTGTATTTACCCAATGCCTGTACTCACATTGTATCTAGGAAGTAACTAA CTTGCTTTTGATTTTACAGGCTCATAGGTGGAAGGGACTTGCCTTATCTC AGTTGAGATTTTGGACTTTTGGGTTAATGCTGGAATGAGTTAAGACTTTG GAAGACTGTTGGGAAGGCATCAAGTCTGAGGGCATGAGATTTGGGAGGGG CCAGTGGTAAAATTATATGGTTTGGCTATGTCCCCACTCAAATTTCATCT TGAATTGTAATCTCCATAATCCCCAAGTGTCATGGCAGCGAGCTGGTGGG AGGTAACTGAATCATAGGGGTGGTTTCCCCTACGCTGTTCTCGTGACAGT TTTTCATGAGATCTGATGGTTTTATAAGTGTCTGGCATTTCCCCTGCTGG CACTCATTCTCTCTCCTGCCACCCTATGAAGAGGTGCCTTCTGCCATGAT TATAAGTTTCCTGAGGCCTCCCTAGCCATGTGGAACTGTGACTCAATTAA ACCTCTTTTCCTTATAAATTATCCAGTCTCCAATATTTCTTTATAGCAGC GAGAACAGATAAATACACTTGGCTATTGTGAATAGTGCTGTAATGAACAT GGGAGTGCAGGCATCTTTTTGACATACTGATTTCCAGTCTTTTGTATAAA TACCCAGAAGTGGGATTGCTGGATCACATGGTAATTCTATTTTTAATTTT TTGAGGAACTTCCATATTGTTTTCCATAATGGCTGTACTAATTTACATTC TCACCAACAGTGTACAAGGGTCCCCCTTGTCCACATCATCACCAACATTT GTTATCTTTTGTCTTTTTGAGAATAGCCATTCTCATAGGTGTGAGAAGAC ATTTCATTGTGGTTTTAATTTGCATTTCCCTAATGATTCTTAATATTCAG CAATTTCTCATGTAACTATTGGCTATCTGTATGTCTTCTTTTGAGAAATG TCTGTCTATTCAGGTTCCTTGCCCATTTTTAAATTGGATTATTTATTTTC TTTCTATAGAGTTGAGTTCTTAATATATTTTAATACTAACCCTTTAACAA ATAAATGGCTTACAAATATTTTCTCCCAATCTGTATGATGTCTCTTCATT CTGTTGTTTCCTTTTTATGCAGAAGCTTTTCAGTTTGATGTAATCTTGTC TATTTTTGTTTTTGTTGCCTGTGCTTTTGGGGCCAAATCTAAAATATCAT TGCCCAGACCAATGTTGTGTAGTTTTTCCTATTTTTTTCTAGTAGTTTTA CAACTTCAGGATTCATGTTAAATCTTTAACTCATTTTGAGTTGATTTTTC CATATGGAAATCATGTGGTCTGATATCAGGGTGCTATTTCATTCTTCTGC ATGTGGATAACCAGTTTTCCAAACATAATTCATTAAAGAGACTATCCTTT TCCCATTGTGTATTCTTGCACTTTTGTCTGAAATCAACTGGCCATCAATG TGTGATGGGAACTCTTAAAATCTACTCTCTTAACAATTTTCAAGTATACA ACATATTGTGAGCTATAGTCACCACAATATACAATAGCTTTGTGGTGGAA GTACATTGAATAATTATTTAAAAATATATACTTTGCTTCCAGAATTTCTA CAACGGGCTGGGCACAGTGGCTCACACCTGTAATCCCAGCACATTGGGAG GCCAAGGCAGAAGGATTGCTTGAGCCCAGAAGTTTGAGACCAGCTTGGGC GACAAAGCAAGATTCCATCTCTATAAAAATAAATAAATAATTTTCCACTA GAACCTGTATTATCTTTATAATCACAAAAAATAACAGACACAGACAAGCT AACAAAAAGACAACCCAATTTAAAAAATGGCAAAGGACTTGGATAAACAT TTCTTCACAGAAAATATACAAATGACCAATAATCACATGAAAAAATGTTC AACTCATTAGTTATCAAGGAAATGCAAATCAAAAACACATCACATGCACA TTAGGTTAGATACAACGAAAAAACCGTACAACAACAAGGACTGGTGAGGA TATGAAGAAAATAAAACCCTTATACACTGCTGGTGTGTATCTAAAATGGT GTAGCTACTTTGGAAAACAGTTTGGCAGTTCATTAAACAAAGTTACCATA TGACCTAGCAATTCTACTCCTAGGTATATTCCCAGTAAAAATGAAAATAT ATGTCCACGCAAAAGTGTTTACACAAATATTCATAGAAGCACTATTCATA ATATCAAAAGGTGGAACCAACTCCAATGTCCATCAACAGATGAATGGATA AACCATATGTGACATACCCATAGCGTGAATTGTGTGGCCATAAAAGAGAA TGAAGTATGGAAATAAGACAGTCACAAAAGACTACACACTACATGATTCC ATTCATATGAAAGTCCAGAACGGGAAAATGAAAGTAGATTTGTGGTTGCT TAGGGCTGGTGGGGGAACAGCAGGTAGGATAAGGGGGTGATAAATAAAGA GCACAGGGTTTCTTTTTGAGGTGATGAAACTGTTCGAAACTTGACTGTGG TGATGGTTAAACATACCTGTGAATATACTAAAAATCACTGGACTGTACAC TTGAAATGGGGTGTGTGATTATATAAATTTAATTACATGGTATGTGAATT ACATCTCAGTGAAGGTATTTAAAAAAAAATGCATGAAGTTTCCTTAACAA AAAGACAAAACGAAGAAACCAAAAGCCATTATGAAAATATTCTTGGTTTA ACTCCTTATTTTTTATTTATTTTATTTTGAGATGGAGTTTCCCACTATTG CCCAGGCTGCAGTGCAGTGGAATGATCTTGGCTCAGTGCAGCTTACACCT CCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTTCAGAGTAGCTGGGACTA CAGGCGTGCATCACCACGCCTGGCTAATTTTTACATTTTTAGTAGAGACA AGGTTTTGCCATGTTGGTCAGGCTGGTATCAAACTCCTGACCTCAAGTGA TCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCACCCAGCCTCAATTTAACTCCTTATAAATAAATGTAATTCAAAGCCAA GAAGACTGGTGCATGAATTACTTCACTAATAAGATTGTAAACAAAATTAT GTATTTAAAAAACACGGACACACAAAGAGATGAAGAGCCATGCAGTTAAC GTTCAGTACCAATTATTGTTTAACTCTACTTACTGCTTAACTCAAAGTTT CTTCCTAAGAACTTCATACATCTGGGAAAAATTATTCGTGAGAAATCTTT GTGTTACTCAACATGATGGGGTAAGTCATCAATTTTAGTCTGAAAGAAGG AA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0173 a0001c0001t0013g0173	1	202	0.0050	-3901	c.157 others(19): Show c.157+12058_157+15958del	TMEM123	ENSG00000152558.15	transcript	ENST00000398136.7	protein_coding	2/4			chr11	TogoVar
HPS3_chr3_149124638_149178732	149126713	CTACTAAA others(3893): Show CTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGT CCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAGATGCAAAAATAATGGAGCCACCTATGCAAATAGTGGTCAGCTACCT TTTGGGAATTCCTATACACTTTCCTTGTTTGTTTTTTGTGACTTTTCCAG AAAGAACTTTGAGGAAATAAAGAAATAAAAAATGAGAAGTAAATGGTATT TTGTGAGTGACTTTCTCAACACATTCTCTAAGACCAATGCAGATATCCCG AGGTACCTCACAGATGGGATAGGAAATCAGTGCTCCAGAGATCCAGAATC CTTCTTTTCTAGGCTGGTTGAGTAGAGCTCTTTGTCCATGTTGTTGCAGA ACCATTTTTGTAGCCATCCCCAGTGGTGTTGTCACCTAGAAGAAACTTGG GGGAGCTTTTTACCCACATAGCACCCTCAATCTCCCCAGCAAATACAGCT TAAAGAAGTTCTAGGGCCAGGTGCAGTGACTCATGCCTGTAATCCTAGCA CTTTGGGAGGCTGAGGTGAGAGTATCGCTTGAGTCCAGGAGTTCAAGATC AGCCTGGGCAATATAGTGAGACCCTATCTCTACAAAAATTTTAAAAATTA GCCAGGCATGGTGGTATGTGCCTATAGTTCCTGCTAATCTGGAGGCTGGG ATGGGAGGATTGCTCGAGCTCAGGTGGTCAAGGGTACAGTGAGCCATGAT CACACTGCTGCACTCCAGCCTGGGTGACAGAGCGAAACCCCATCTCTTTA AATAAGAAAGAAAAGAAAGAAAGAGAGAGAAAGGAGGGAAGGAAGGAAGA AAGTTCTCAAGACAACCCTTTTCAACAGAGTGCTACCCTAAGTGCATGTG CTATGGGCTAAATTGTGTCTTCCCCCCAAATTCATATGTTGAATCTGTAA CCTCCAATACCTCAGAATGTGACTGTATATAGAGATAGGGCCTTTAAGAA ATAATTAAGGTTAAATAAGATCATAAGGGTGGGTCCTAATCTAATATGGC TGGTATCTTTATAAGACAAGGGAAGGACACCAGGGATGCAGGCACACAGA GGAAAGACCATAGGAACACATAATAAAAAGGTAGTCATCTTCAAGCCAAG GAGAAGGGGCTTCAGGAGAAACCATACCTGCTGACATCTTATCTTGGACT TCTAGCCTCCAGACCTGTGAAAATGAAATATCTATTGTGTAAGCCACCCA GTCTGTGGTGTTTTGTTATGGCAGCCCTTGCAAACAAATGCAACCTCCCG CAAGGAATTGATGGTGTGCCATTGCTGCCCCTGCATTCGTAACAGGAATA CAAGTGGGCAGCTCCTGCTCACAGCTCCTGACAAACGTGGAAACCAGACA CATGCCCCACCTTCCCTTGGGTAGCATGTCTCTTCCCAAAGAATCTTAGA TGAGTCAGGTGCAGTGACTACAGCAAGGAAGAAGACACTATCTCTAGGAA GGAATGGGGTTCCAGGTTTTGAGCAAATCTCACTTCTTTCTCCAAAACAG ACATTCTTTTTATGCAGGTGAAATTACACTAAAGTTAATATCAGTCTTCA TTAGGAGAAAATTGAATTAGGATAATTAAGTCTTGAAGAAGAAAATTAAG CCAAAAAGAATAATATGGCAGATACTTGTGGAAAGGAATCTTTTTTACTA TTGATTTTGATATTTGCTCTTAAGTTTTGTATCTAGAACAAATAACTTGT GGACTATTAGTCTGGTTGTTTTCCATAGGAGCCTTCTGTGATTTTTTGCA GCCCTAGTTCCTGACCTGAGCTACCTCCATGTTTACTTCTCTAACTCACT GAGTTTGACGAACCTGTTGTTTCCCATTACTTAGAGGTACTTTATTCATC TGAAGGGCCTAGGAAAGGGAGGCAAGTTTAACTTCAATCCAATTGCATCT AATTTACAAATTCTGAACTGGAAACTGACTGAAGAAAATGTTGCACTTTC ATTTATGTCCCTGTGTGCCTAAATAAAACAGCATCCCTCAATCCATGCTA ACACATATATTTTCTAGGTGAACTGGACAAAGTTATACTACTTGTTTTAT CTAAATCTGATTTTTTTAGAAAAGGGAAAGTGTTGCGATCGTGAACTCCA CGTTGAGATGTCAGGAATAGATAATTTACTGCATAGTTTTAGGAGCACTG GACTGAAAGCCAGGGGATTTCCCTCCTAGTTCTTCTATCCTCTGGGGCTC AAACTAGTCTTTTGTCAAATGCCTACAAGATGAAGTCCATGGATTCTTTC TTTCAACAAATATCTTTTTGCCAAGCACGTTCAAGGCTTTGCTCTTTCCA GCTGAACTATTCTAGAATTTCCATTATTTTAAAGCAACTCTTCAGAGTGT TTAGCCCCGAGTTGCACCCCATTTCAGTTTTTGCAACCCCATCCTCCAGA AGCTCAGGGACTACTGAAGAGACATGAATAACGCTCCTCAAAGTAAGTAC AAAATGTTACAAGATAGATGATGAATTGTCAGAACGTACTCAAAAGCCAA AACATACCGCCTGGCCCAAAGCAGTAAAAGACGAAAGGCAGGGACCCAGC GGTCCCCGCACCCACCGGCCACTGAGCATAGAGCAGTGGCAAGCTCGCGC GGCGGAGTGGGAGGCGCAGAGACCGAAAGCACTGCAGCGCCAGAGCGCGG GCTGACCAGGCTGGCGTGACCGCTTTCCCGACGCCTGCCACGCCCCGCGG CGGCCTCTTTAAGTAGCGGAGCCGCGGGCGGGGCCGGCTGGCGTTCACGT GACCCGGCGTCATTGGCTCGCTCGCGGAAGTAGTCCTACATTCGCGGTCA GCGCGGGGTCTCCGGGCGCCCTGCAGGGCGGGCAGGCTGTGCCATCCCGC CGGACGTCGGGATGGTGCAGCTGTACAACCTGCACCCGTTCGGGTCGCAG CAGGTGGTGCCCTGCAAGCTGGAGCCGGACCGGTTCTGTGGCGGGGGGCG TGACGCGCTTTTCGTGGCGGCGGGCTGCAAGGTGGAGGCGTTCGCGGTGG CCGGCCAGGAGCTGTGCCAGCCGCGGTGCGCCTTCTCCACGCTGGGCCGG GTGTTGCGCCTGGCCTACAGCGAGGCTGGTGAGTAATCTAGAGAGCCAGG GGCCGCCTGGGGTCCAGCTTGAGGCCTCCTAGCTAGCGGACCGAACGTCT GGGCTGTAGCTCTAGCTAGGGATGGGACTTCTTGCTTCCCGGAATTTGCC GGATGGTCTCCCTGGGTCTGGCCGCTGATTGCTTGAAGTCGCATTGAGCT ATGCGGTTGTCGCGGCAAGCATAGGTATGAGCTTGCTTCTGTCGGGGCGG AGACGCTGACATCTCTTCGTCTTGGTTTTCTGCAGAAAGGCCTCTGGCTG GATTCCACTCATCTCGGATACTTAAGCAAACAACAACAAAAAACTCTTTA GTGCATCAGATTTCAAAGACTTACCAAAAAAACAAGTAGGAATAAGGAGA CTAGTACTGTATCCCGGAACCTCCAAGTACTCCCAGCTTTAACAATTATT CCAACTCTTGGCAGTTCTTTCACATCTGTACCTCCATCTACTTCCGGTCG GTTTTTGAAAGCTCACATTATGTGTTGATTTTTAAATGTGTGTAAGTAGA ACTCAGACTGCCCCCCTCTCTTCTCTTAAACATCTGTGGCCGGGCGCAGT GGCTCACGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCGGATCA CGATGTTAGGAGTTCGAGACCAGCCTGGTCAATTTATTGAAACCCCGTCT G	C C	exon_loss_variant others(1): Show exon_loss_variant splice_region_variant	HIGH	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0012 a0001c0004t0001g0012	1	390	0.0026	-3900	c.-30 others(13): Show c.-3010_217+673del	HPS3	ENSG00000163755.9	transcript	ENST00000296051.7	protein_coding	1/17			chr3	TogoVar
TCP11L1_chr11_33034572_33078550	33045352	CAAAAAAA others(3891): Show CAAAAAAAAAAAAAAAAAATTAGCTGAGCATGCACGTGGTTGTAGTCCCA GCTACTTGGGAGGCGGGGACAGGAGGATCACTTGAGCTGGGGAAGTCAAG GCTGCAGTGAGCCGTGATTGTGTCACCGCACTCCAGCCTGGATGACAGAG TGAGACAAGCCTCTCTCAAAAAAATAAAAATAAAAAAAATAAAGAGGCCA GGATTGATTGCTGTAATGTAGATGTATATGGCTAACATGATAGCTTTACA ACCTATAGTTTCTGCTAAAGAAGAACTTTTGGTTTAGGTCTTCAGTCACC CTTTATTGGTTGGTTGGTTGTTGGGATGGCCAGACCCAACGTGGAGGTGA CGAAGTCCAGTGGAGTCAAAAGAATGAAAAAGACAAGTTTAAGAGTGCAT AAAGTGGGTCCGGGGGCCAATGCTAGTATGGAGGCTGCGAAGGCCCCGAG CTCTGGAAGCCTGCACTATTCATTGGTGATGAAACAAAGAAGCAGGTGGT GAGGATGTGGGGGTTGAAAGAAAGCAGTGTATCAAGCACATGATCTACAG CTGTGACGGTTTAGCATTTTCTTTGCAGCATATGGAACATGTTCTGCTAC TTGAGATAATGGGAAACATGTTCTAGTTTAAGATACAATAGATCTATGAG CCTAGGAGTGCTAGAAGCAAGGAGCCAGCAAGTCTAGACACATTCCAGAG GCCACGCCCTGAGCCCTGGATTCCATTCAAGCCACGAAGGGTTTTATGCC CTGGGCTTAGATTATGGTGCTGCAGGGCAGCCTTCTGCCCTTTAGCACAG AGCTTGGTGTTCCCAAGGCCATGAGGGGTTTTAGACCCTGGACCCTGGAC ATGTTCCAAGACTCTTTTACATTAAGTGAGACATGCAAGCCCTGCTTTAG CTTCTCCCAACAGTTGGTTGATTGGTTTTAATTTTTTTAAACAATTTTAA CTTTTATAGGTTCAGCCATTCTTTGGTTGATGGCTTCGCCTTTGGCATCT TGTCAGCCTGATGGCATGATTCCAAATTAATGTCAAACCAGTACTAAGCT ACATTATCTGAAATTGTGTGTAGTTATGCCCTTAAGGCAAGAATACTTAT CCTGGGACCTATGATCAAGATTTAGGGGATCTAGTAATAACCAAAAAAGT ATATCAACATTTGTTTGTATATGCATGTTTTTAGGAATAAGGTCGTGGAA GCTTTCATTAAGTTCTCTTAGTAGTCTGTACCAAAATAAGGTTTAAAATC AATGCCCTAAGGTATTCCTTTTGGCTGCCTTCCTATTTCTCCTGTAGTGC TAGGTAGGTACAGGGCTATAAACCCAAAAGATAAAGCTAAGACCTCATTA TCTGGGCATCAGGTAAGGAAGCATTATTGAACACATAGAGCATAAATAAG GATTTACAAAATATGGAATTAACAGTTTACAGACATTTCCCCCAAACTCT GTAAATTTGTAGCTACTGAGTTTAAAGTAACTCTAAAATCATATTTGGAA TTCTACAAATTAAAACGTAAGTAGCAAAAAGAGAACATTTATTGTTTTAA ATTATAACACAGAGTAATACTTTAAGAGTGGAGTTGCTAGGCCAGGCGCA TTGGCTCATGCCTATAAGCACTTTGGGAGGCTGAGGCAGGTGAATCACCT GAGGTGAGGTCAGGAGTTCGAGACCAACCTGGCCAACATGGTGAAACACT GTTTCTACTAAAAATACAAAAATTAGCCGGGAGTGGTGGTGTGTGCCTGT AATTGGGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAAGCAGAGGTT GCAGTGAACCGAGATTGTGCCATTGCACTCCAGCCTAGGGGACAAGAGCG AAACTTCATCTCAAGAAAAAAAAAAAAAGAGTAGAATTCTGATGTAACCG ATGCAGAATATTGAAAAAGGAAAAATGGCTGGCTTGTAAAAAATTTATTG GTACTGATTTGAGGTGGTGATTTGATTGTAAAAGATTATCTGTTCTTTAA ACAGAGTAAGGATCAGTCAACTGTAACTTAACAATGTTTTCTCTAAAATC TTCTACTACTTATACTTTAATGCTCTTCTCACAAAATACCCTCTGTTCTA ACGTTTAATCACCTAGTTGACCAGTAAAAGATGCTATATTCAGATGACAA ACATCAATTGTTATTCCAGTTAATATCTCCCACTTAGGACCTTTGTTTAT TGGATCAGGTCCTTGTGAATTTAATTAGTAGATCCCAGTCATCTTTAGAT GAATAGATGACACGAGAACTTACATTTCTAAAGCTCATGACTAGACTTTG AATTATGGTGTCTCTGTATTCAGTCAGTCAAATATTTATTGAGTGCATAC TGTATGTCAGGGATCCAGCAGTGAACCAGGCACATATTGTCTCTGTCCTC ATGGAGCTTGCAGGCTAGCGACCAGGAAGACAAATTAACAAGCAGTTTCC AACAACATAATAAGTACTATGGGTAATCTGTACCCTGGTTTTACTGTGCT CATTCTATAGTAGCTGTTTGGGTGACAGTTGCAATCTTGCCCTCCATAAA TGTCCGTCCACTTATGTAACTAACAGCATCTTTTCAGAGTGTATAGGCAT CTCAGGACACCTTAGTAAAGATAGAGAGTACAACCATTCTAAATTAGAAC TTCATTTTATTTTGGAATCTGTCTGCCAGCCTCTCTAAAGTCATGTTTAA CCTAATATGGTTTTCAGTTTCTCTAACAGGGCATCAGTGCGCAAATGCTG TAACAAAATAACAAAATTTAGCAACAACTTTAGCTTTGTATCACGTAAGA TAAACTCCAGGGTAAGTTACATGTATCTTTACATTTTTTTTTTTTAAGAC CGGATCACTCTATGTTGCCCAGGCTGGCCTTGAACTCCTGGGCTCAAGTG ATTCACCCACCTCAACCTCCCTAGTAGCTGAGACTACAAGTGTGCACCAC CATGTCTGAGTTGACCTTACCATTTTTCATGGCTCTTATTACAACCCAGG TTCTCTTAACAAATTGAGGTGAAGACGTGTTGTCCACCAAATTGCATCTT TATGCAATTTTATGCAATCCTTACCAAGTTTTCATTTATGAAATTGGTAA ATTTGAGAACTCTCACAAAACAAAATCCCCACAACCCTATAATTTGTATG CAGTGAATAATTCCTCTGTATGTACATCGGTAACATGTCCTGATCATATC TTAGAACTGTAGCTTTTATCTATCATGATCAGATACCTGTCATTGATAAG TTTGATTTTAAGTAGTCTCTTAACTTGGACAGTTCCTGAAAATTTTCTTC TTCCTAATGGTGAGGTTCTTAGTACTTGGTGCAAGCTGTTTTTTTCCAAG TATGCCCAAAACACTGAGAATGCACTTGTTTAAAATTCGGAGGATTCTTA TATTTCATAGCACACCCTTAAGTCTCTTCTTTTTGCATATGGAGAAACAC TGACCCTGCAAGATTTAAGTGACTTGTTCAAGGCCGTACTCAACAGAGTC CAGAGGAAGTGAAATTCCTTCCTGATTTGCTCCAGCCACTGTGTTTCATG ACTAGGCAGCATAGTAACGGTGCCTATTATTACCCAGATGACTAAAATTA TTGGGAAATAACAAATCCGGCCAGGCGCGGTGGCTCATGCCTATAATCCC AGCACTTTGGGAGGCCAAGGCAGGTGGATCATGAGGTCAAGAGATCAAGA CCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACATAAAT TAGCTGGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTCGTGACAGAGCAAGACTCCGTCTCAA	C C	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0182 a0001c0003t0001g0182	1	242	0.0041	-3898	c.163 others(17): Show c.163+1434_164-5326del	TCP11L1	ENSG00000176148.16	transcript	ENST00000334274.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP4_chr11_31504767_31795324	31685460	ACATAGTT others(3888): Show ACATAGTTAATTGAAATGGGTTTCAATGCAATAGTGCAATTACTTCAAGA AGAGTGTAGTGATTTACATTTGTAACAGAAGAGTTGAAACTTAACAGATT TGTATCCAAACTTTAATAAATTAGTGAAGACATATGAAATGCAGAGACTT TAATGAATTTTATTAATAAAGTTTATTTTAAAAATATTTCTGGCCGGGTG TGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAGGCGCGCAGA TCACGAGGTCAAGAGATCGAGATCATCTTGGCTAATATGGTGAAACCCCT TCTCTACTAAAAATACAAACAATTAGCTGGGCATGGTGGCACACGCCTGT AGTCCCAGCTAGCCAGGAGGCTGAGGCAGGAGAATCACTTCAACCTGGGA GGCGGAGGTTACAGTGATCCGAGATCACGCCACTGCACTCCAGCCTGGAC AACAGACTGAGACTCCATCTTAAAAAAAAAAAAAAAAATCTTTCCTATAT ATTGTTAAATGATTATAGCACATTAATACGTTTATGTATAAAAGTTATAT GTTGAAATTGTCTTTTCAAGGGGTTATCACACAACTTCTCTATAGTCTGT TATAATAGTTTCCTTTTCTAACCTTCTTGTAGGCTTTATGACTTAGTCAA AATGAAAGCCAAACTCACCTGTGAAAAATATATACATTTTATATATTAGT AATCTATTATTTATTTTGTCATGCTAGCCCTAATACAATTAAGGTTATCA CCTTCTTTCTCTAATCAATACCAAGAAACTCTGGTCTGTTATTATTTATC CTGAAACTAATTTTTATTCTAGATTCTACCTGTACCATATGTCTGATTTT TCATGATCTTGTGGGTTGGTTTTTTTTTTTTTTTTTGGTATGGAATAGCT TCTCATCTTGATTATCTTAAGTACAAACATATTCACTATAATTAGATGCA AGCATCTGACTATTTTATTAAAACTTCAGATTAAACATGGATAAAGGAGG GAAGCCCTCTGAGAGAGGCAGATCATGATGTGATTTCCAGCTCACAATTT TGGATTCTCTCCCATGGGTAATGGGGAGCCATTAAAGTATTTTATGCAGA GATTACCAATCAGATTTGTGTTTTAGAAGTATCACTCTGGGCCTGGTGCA GTGGCTCACAAGTATAATCCTAGCACTTGGGGAGGCCATGGCAGGCGGAT TACTTGAGCCCAGTTCAAGACCAGCCTGGGCAACATGGTGAAGCCCCATC TCTACACAAAATTAGCCAGGCATGGTGGCGACACTTGTGGTCCCAGCTAC TTGGGAGGCTGAGGTGGGAGGATCAATTGAGCTGGGGAGGTGGAGGTTGC AGTGAGCCGAGATCATGCCAGTGCACTCCTGCCTGGGCAACAGAGTGAGA CCCTGCTTCAAAAAAAAAAAAATCACTCTGGCAGGAGTATGAAAAGAGAT TGGAGTGGGGGTGGGGTGGGGTGACAAGACTAGAGGCCAAGAGTTGAGTT AGGAAACTGTTGCAGAGGCCAGGTGATCATCATCATCACCATCACCATCA TCATAATGATTAGACATGAGATAAAATCAACTGAACTTAGTCATTTAGTA AGAGAAAAGGAGGAGTCTAAACTTGCTCCCAAATATCTGATTTGGGTGAC TAGATGAGGTTGGTGTCTTTCATTAAAATAGGGACCATAGGAAAAGATGC AGTTTGGGACATGTAGAATAGGACATATAGGTGGATATAGCCTTTGAACA TTTGGATGTGTGAATTTGTTCTAAGGAGATACATGATCCAGAGATGTATA TTTGGGAATCATTGTTATATAGCTGGTAGTTGAAGACATTAGAACATGTA AGATCAGAAAACATGTTTAGATTCAGAAGAGAAGAAGGCAGAAGAATCAT GTGGAGTGGTCTCATGGAAATTAAGGGAAGAGAGAATTTTGAAGGAATAA TGAACAATGCCAAATGCATTGAGCAATAAATAGAAACAACAGTTGACTCA TAGATAGAGAAGTCTATTGTATTTGGCAATATGAGGCTCATAGGTGACCA TTGACCAAGAAGTTTCAGGGGCATAGGGCTCAAAACCTTAATTACATGTA GTTGGTTAAAGATCTAATGGCTTTTGCAATTTCTTTGAAAGTAGAAAAAG TGAATGGGAGGTAAGGAAATAGAGACAGCAAGTATCGACTCTCTGTTCCA GATTCTTGAGAATGAAAGAAAGGAGAAGGAAAGAATAATAGAGGTGGGTG CAGAATAGATAATTTTTCAATTATTTTGCTTTTTCCACTTGTACCTTGAT TAAAATGTTGCTTTTGATTGCATTTTCATGAGTTAATATTAAACTTTGTA TTTTTCTATAATTAATCATTCTATAATACTTTAGTTAATGGCATAAGTTT AAAAGAATCAGGGTTACCCCCAAACCAAATTAAGTATAAATACTAAATTG TGTGATTTCCATGAATGCACAGGATTAAAAAATATTTATGACAGAAATAT GTAAAATCACGATTGAATAAAAGGAAGACGTTGACAGCGTGTTGGATAAA TGTGAGATATCTTAACAAATGATTTTTAAATGAGGCCATCTGTTAAAGCT TCCTGATGCTCTGAGTCTGGAGCAAGAGGTTATTTATGTTTTCACGCAAA TCAGGCTTTAACCAAAATACTTTGGAAAAAACAGATGCCTTATAGAAATT CATTATTCCTAAAATAATTACAACCTTCTAAATGTTAACATCCCTTTCTA CAAAGAATGGTGTTATGCTAATGCTGTTTATATATATGAATGTGAAATTA TTGTATCATTTACTGTAATGCAAGGGAATGGTTTCTCCTTATCCCCACCT CCATCCTCACCCCTGGGAGATACATGCCTGCTTACCAGGACCAATTTTCT ACTTATTTAGCTAAAAATAATTGACCTTTGAAAGTCATAACCCAAGTAAT TGAATTTGAACTAAAATCTAAAGATAAACCTAATCTTTCAGGCATTCTTT CCTCCCACTCTTTTGATCTTTTTGACCCCCACTAAGTCTTACCAGGTATA TTGGAGTAGAGGAAATTTCATACTAGAATACAGTACTGTGTCATGTTTCA TTAATGTCAAAGATTTCATGTAGTAAATAGAACAAGAAGGTACCACTTTG TATAATATTCAAAATCTATACAGCACATTGCTAAGCAGAGTATACACTCA AGAAATGTAGAATTGGTAATATTATACTAGAAAATGAACTTCCAGTATTG CTATTATTTTACTAATATGCATAGTCACTGACCTGTGAAGAGTGAACAGT ATGTAGAAGTGCCTTTGAGATAGGAAATTGTGAGAGTCCCTAACTTTTAC ATACATATTAGATTAATTTGAGCCTACATAAAAAGAAAACAAATTTGTGA GGATTTGAGGGGGGAAAATCAGGGGACTTCCTGTTTGCAGCTCTTATCAT TGGGAGAACAGTAAATTAGATCTAGACTAATATATTTGGTTTCTCTAATT TATGGCAATTTGTTAACTTTGTCATTGAGTGGAATGCTGAACAAAATTTC TATGGCACATAAGCACCTTGCACAGGGTTCGCTTTAATTCTTTGAGAAGC TTTCAGGCATAGACTATTTAGTATACTGATTAAAGTATGATTAATTATTA ATTAGTATCTTGTCCTGTGAGAATGCCTTTAGCTTCAATAGGTTCATCTT TACTTGAAAATAATGGAAAGCTGGGTGCAGTGGCTCTCGCCTACTGAGTG GTGAGAGGATCACTTGAGGCCAGGAGTGGAAGACCAACCTAGGCAACATA GCAAGACCTCGACTCTACAAAAATTTTTTTTAATTAGCCAGGTATGGTGG TGCACGCCTGTAGTCCCATCTACTCAGAAGGCTGCGGTGGAAGGAT	A A	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0089 a0001c0001t0004g0089	1	268	0.0037	-3895	c.114 others(21): Show c.1143+35242_1143+39136del	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
DLGAP2_chr8_732628_1713476	1013587	CGGACAGA others(3883): Show CGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTC CACTGTGTGTGTGACCAGGACAGACGCCTCCACTGTGTGAGACCAGGACA GACGATGCCTCCATTGTGTGTATGACCAGGACAGACGACGCCTCCACTGT GTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTGTGACCAGGACAG ACGGCGCCTCCACTGCGTGTGTGACCAGGACAGACGGTGCCTCCACTGTG TGAGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAGACG ACGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGT GTGACCAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGATGCCT CCACTGTGTGTATGACCAGGACAGACGGCGCCTCCACTGTGTGTGACCAG GACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCA CTGCGTGAGACCAGGACAGACGATGCCTCCATTGTGTGTATGACCAGGAC AGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTG TGTGTGTGACCAGGACAGACGGCGCCTCCACTGCGTGTGTGACCAGGACA GACGGTGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTCCACTGTGT GTATGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGAC GGTGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCCACTGTGTGAGA CCAGGACAGACGATGCCTCCATTGTGTGTATGACCAGGACAGACGACGCC TCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTGTGAC CAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTCCATT GTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAG ACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTG TGTGACCAGGACAGACGGTGCCTCCACTGTGTGTGTGACCAGGACAGACG GCGCCTCCACTGCGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGA GACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAGACGACG CCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTG ACCAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTCCA CTGTGTGTATGACCAGGACAGACGGCGCCTCCACTGTGTGAGACCAGGAC AGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCCACTGTGT GTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGG CGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTG TGACCAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTC CACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCA GGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCC ACTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAG GACAGACGGCGCCTCCACTGTGTGTATGACCAGGACAGACGACGCCTCCA CTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGAC AGACGACGCCTCCACTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTG TGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACG ACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGT GACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGGCGCC TCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCA GGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCAC TGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGA CGATGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGT GTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGAC GATGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTG TGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAGACGAT GCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGA CCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCC TCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGG ACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCAC TGTGTGTATGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGA CAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACT GTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAG ACGACGCCTCCACTGTGTGTGTGACCGGGACAGACGGCGCCTCCACTGTG TGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGA CGATGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGT GACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGCG CCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGAGAC CAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCT CCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAG GACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCA CTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGAC AGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTG TGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGA CGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGT GTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGA TGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTG ACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGC CTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACC AGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTC CACTGTGTGTGTGACCGGGACAGACGGCGCCTCCACTGTGTGTGTGACCA GGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCC ACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACA GACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGT GTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGAC GATGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTG TATGACCAGGACAGACGGTGCCTCCACTGTGTGTGTGACCA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02895.hp2 HG02818.hp2 HG02895.hp2	a0002 a0002	a0002c0006 a0002c0007 a0002c0006 a0002c0007	a0002c0006t0021 a0002c0007t0008 a0002c0006t0021 a0002c0007t0008	a0002c0006t0021g0014 a0002c0007t0008g0040 a0002c0006t0021g0014 a0002c0007t0008g0040	2	40	0.0500	-3890	c.73+ others(19): Show c.73+105664_73+109553del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNRNP27_chr2_69888956_69910236	69891917	GCCTCGGC others(3883): Show GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCGG GTGAGGGGTTTCTTAAAAAGCATTTTCATCAGATGAGACCCCAGCCCTGA GGGGAGAAGGAGAAAGAGAAAGAGAAAGAAAGAGTATTTTCAGCCACCAC CTGAGGCCACCATGTTCTTCCTCTCTTACACATCTAGTACATACCCCCTT AGGCTTCCCATAAATCCTGTCTTTCCTGTGGATAATTTCTTCAATCATTA GTGGTGTGCTTCTTCTTTCTTTTTTTTTTTTTTTGTTTGAGACGGAGTCC CACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAGTCTCAGCTCACTGCA ACCTCAACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGATTACAAGCATGCGTCACCACGCCTGGCTATCATTAGTGGTGTG TTTCTCCAATGATGTCCCTAAATCTTCTTCCCTGGGGTCTGCACCTCCCT TGAACCTCCCCATTCTACACCTAGTGCATGCTTTGCCAGGGTAATTCCAA AGGCATCTGGGGGTTGGGGCTGTTGGTAGAAATCCTAGATGTCATGGCTG GATCTTTCCTGGAAGTTTGGGTTGGGACAGGTATTAAACAGGCCACTCTG AATGTATAAATCTAATTAAAAATTTATGTGATTGGTGGGCATTTTTTCCA ACCTAATAAAGTCCCTTTCCATCCCCCAGCTCTTTGTATTTTAAAAGCCA GGTCACTAGACTTGATAATTCTAGAGAGAGCTGACTGAAAAGAGTTGGTT TGATTAGAAACAGAGGTTCAACACTTTTACACTGTTGGTGGGAATGTAAA TTAGCTCAACCATTGTGGAAGACAATGTGGTGTTTCCTCAAAGACCTAAA ACCAGAAATACCATTTGACCCAGCAATCCCATTACTGGGTATATACCCAA AGGAATATAAATAATTTTATTACGAAGATACTTGCACGCATATGTTCACT GCAGTACTATTCACAATAGCGAAGACATAGAATCAACCCAAATGCCCATC AATGATAGACTGGATTAAAAAAATGTGGTACGTATACACCATGGAATACT ACACAGCCATAAAAAGGAACGAGATAATGTCCTTTGCAGGGACATGGATG GAACTAGAAGCCATTATCTTCAGCAAACTAACACAGAAACAGAAAACCAA ACATTGCATGTTCTCACTTATAAGTAGGAGCTGAACAATGAGAACACATG GGCACAGGGAGAGGAACAACACACACTGGGGCCTGTAGGGGGAGGAGCTG GGGAGAGGGAGAGCATTGGGAAGAATAGCTTAATAGATGCAAGGCTTAAT GGGTTGATAGGTGTAGCGAACCACCATGGCACACATTTACCTATGTAACA AAACTGCACATCCTGCAAATGTACCCTGGAACAAAATAAAATAAAATAAG AAATAGAGGTTTGAGTCTTTCCTGGTAAGCATATTTATGCTCTACCACAG ACGGTTCAGCCTTGGGGCAAGACAGTCTTTCTCCTAATTTTTGTAGTTTT GAACATTCTAAAGTTTTTGTTGTTGTTGTTGTTGTTTTCCCTGAGGACAG AGGCAACTTTGGGGAAGTACTTTGTCGGGTAGGATGGAATCTGGGGCCTT TAGTTTTCCTTCCAAGAGCCCATAGGAGGTTTTGGGTGCCTTCTCAATGC TGGCATGAGAAAATATAAAGCAGATGGACAGTGAACTTTGGTATATTCAC TCCTTATGAATGTTATGTGGAAAAGTGGAAGAACATAAGCTGTTTGTCTA TGCTATGTTTACAATTGGTTTGCTCTATTTTGTGCATGTGGACAAAAATG GGGGAAAAATGAAAGCTGTGTTAGGATAATGGGTATACGGCTGAATTTTC CAGGAATTTCTATAATAACACCAAATCGCATGTTTTAATGCCCACCGTGA ACAAAGAAGACCGGAACCCTCGCAACTCGTTTTGACGTTTTCTGGTCGGC GGTAAAAGCTCGGTTCCCGGCCCTCCCGGAAGTTGTTGCACAGTTGTTTC CGGGAAGCGGGACTCCAAATGGGTCGCAGTCGCAGCCGCTCTCCACGGAG GGGTGAGTCCTGTAGCAATTCGGAGGATATGGGGCTCTGTTGGAGGCCTG TCCCTTTTGTTTTATTTTGTTTTGTTTTTGGTAGCCGCGTAGCAGAGAGG CGGGCCCTTTTCCCAGGCGGAGAGCGAGGGGTGGATAAAGGAACGTAGAC CTGGGCCCTGCCCTCTTCAGCCCGCCCTCTCCGGTTTGAAGGCAGTTGTT TGTCTCTGAATTAGTTTCATTAAGTCTTTGTCACCTTCATACAATAACTT TTATTACACTGTGGCCGGTGGGTTTAGAATTAGACCTCAGTTCCTTTGCT GAATTTCTGGGCGACGGTGGGCAAGTCACTACTCAGCCTTTCTGAATCGA ATTCCCAGAATGAGTCATTGAGGGTAGTATTGCCAACTTTTAAAAACTGA TGTGAGAATTAATGTCACATCCCATAACATACAGTATGTGATTCTGCCTG GTTCTTAAATACTTAATAAATGTTAGATTCCTGCCCAGGTCATTACAGGG AAATCGATATTAAGAATTTTGAGTCCTGGGAGCTCACTTCGTAATGTTTT CTGGCTACCAGCCCCATAAATGAGGCAGCGCGACGTAAAGAACCCTGGAC TTCCATTAGGAGATCTAACTTAGACCCTCGGTTCTGCCCCTGATTCGTTT TTTTTTTAAATCAATTTATTTATTTTTAATGAGACAGAGTCTCGCTCTGT CGCCCGCCCAGGCTGGAGTGCAGTGGCCGATCTCAGCTCACTGCAACCTC CACCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTTCCGAGTAGCTGG GATTACCCGTCCGTGCCACCACGCCTGGCTAATTTTTGTATTTTTATTAG AGACGGGGTTTCGCCGCGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTG TGATCCGCCCGCCAGCCTCACAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCTCCCAGCCTCTTTTTACCTTTTTAATGTGACTAGTAATGGTTTGCAT TATTTTTCTACTGGACGGCGCAGCTCTAGATATTTGAGGTAATTATCAGT TCTGCAATTTGTGTGCGTTTGCATTAGAACGTAGGCGTTCCCGGTCCACA TCCCGGGAGAGAGAACGCAGGCGCCGAGAAAGGTCCAGGTCTCGGGAGAG AGATCGGAGAAGGAGCCGCTCGCGATCCCCGCACCGAAGACGCTCCCGGT AAGGGCAGAAAATAAGCCAAGAGTTTTATTTACCGAAAGTCCCTAAGAAA CTGGTCGCAGCTCTTAACTTTGTTTTCATCGCTTATAAGGGGATTTACGG TTTCCTGAAATGGAGGAAACTTAATCCAACCTTATTCTAAAGCTAACATT CACCTTGGTTAAATGGTGCTAATAGTACTCTACATCACAAAGTTGTCTTG AAAGAGTAAGTAAGAAATAATGCATGCAAACCCCAGAGCATGGTGCTTGG CAAGAAAAAGAAATAAGTATTTTATATTTTTGTTTCTTTCTTCCGTTCCT TTCCTTTCCTTTTCTTTTCCTTTTCCTTTCTTTTCCTCTTTTTTGAGACG GAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGCGGCGCAATCTGCTCAC TGCAACCTCCGCCTCCCCTGCAATCTCTGCCTCCCCTGGTTCAAGCAATT CTGCTGCTGAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACA CCCAGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCAACGTGTT AGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCA	G G	exon_loss_variant exon_loss_variant	HIGH	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0045 a0002c0002t0020g0045	1	438	0.0023	-3890	c.-20 others(13): Show c.-2067_155+593del	SNRNP27	ENSG00000124380.11	transcript	ENST00000244227.8	protein_coding	1/6			chr2	TogoVar
ADARB2_chr10_1172313_1742525	1235524	GCCTCCCG others(3881): Show GCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGC CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCT CCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCC CGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGTGTCCTGGTG TTACTCCCCTGCTTTCAGGTGATCCACCCGCCTGGGCCCCCCAAAGAGCT GGGATTACAGGCGAGAGCCACCACACTGGGCCCCACCATGATCTTTTAAC AAGCCAATTTTTCCCACTGCTGTTCGCCCACATCTATCTGTCTACACACC TGTGATTCTGTGGATTTGCCAGTGCTGCTCATGGCCATACCTCACAGTGG ACTGTGGGTTTGACGTAGCCTGAGTGGGCAGCTTGTGTGTGATTAAAAGG AGGAAAAGAGCTGTAGGAAGGCCTGGGCTCCGTCACCAGCACAGGTGGGA GTGGAGAACCGTGGCGAAACGGCTTTCCTTCTGCATCCAGCCATGACCCA GGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCTGT TGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCTG CCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCATTTCCTTCTTCGGT GTTTACCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTA CTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACT CCCCTCTGCCTCCCGGTGTTCACTCCCCCCTGCCTCCCGGTGTTCACTCC CCTCTGCCTCCCGGTGTTTACTCCCCCTCTGCCTCCCGGTGTTTACTCCC CCCTGCCTCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTC TGATGGTGAATGATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTG GAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACA TGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGTCTCCCGGTGTTTACT CCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCC CCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCC TCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTC TGCCTCCCGGTGTTTACTCCCCCCCTGCCTCCCGGTGTTTACTCCCCTCT CCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGC CTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCT CCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCC CGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCG GTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCGGTG GTTAATTCCCTCTTGCCTCCGGTGGTTAACTCCCCCCTGCCTCCGGTTGT TAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCTCCGGGTGTTA ACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCTCCGGTGTTTACT CCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCCTCCCGGTGTTTACTC CCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCC CCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCT CTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCT CCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGC CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCT CCCGGTGTTCACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCC CGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCATCTCCCTCCCG GTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGT GTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGT TCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTT ACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTAC TCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTC CCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCC CTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCT CTGCCTCCCGGTGTTTACTCCCCCCCTGCCTCCCGGTGTTTACTCCCCTC TCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCAT CCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTCCCTCC CGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCG GTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTT TACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTA CTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACT CCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCC CTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCT CCCTCCCGGTGTTTACTCCCCTCTTCCTCCCGGTGTTTACTCCCCTCTGC CTCCCGGTGTTCACTCCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCC TCCCGGTGTTCACTCCCCCCTCCCTCCCGGTGTTCACTCCCCTCTCCCTC CCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCC GGTGTTCACTCCCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGG TGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTT ACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTAC TCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTC CCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTC CCTCCCTCTGGCGATACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTT CCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTCCC TCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTC CCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCC GGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGG TGTTTACTCCCCCCTGCCTCCCGGAGTTTACTCCCCTCTCCCTCTCCCTC CCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCC GGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGG TGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCTCTCCCTCCCGGT GTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTC	G G	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0019 a0002c0002t0006g0019	1	100	0.0100	-3888	c.136 others(19): Show c.1361+2719_1362-1680del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
JDP2_chr14_75423022_75479107	75474034	AGATGTGG others(3881): Show AGATGTGGGCTATCTTCTCCACACTCCTCTGTATATTTGATATTCTTTGC AATAAAAGAGAACAAGCCACAATACAAATAGGAGGTTTTGTTTTTATTAT TGCCTTAGCAAACTCAGGAAATAAAAACAAATCTGAAATTACAATGGGAT TGCAGCATATGCTCTTTGAATTTATGCAAATTTAATTATATGCCTGAAGG GAGAGAGAGAGACAATTCAAAGGGTGGAAAGAGGTTAGCTGGTTGAGCCC TGCGGGAGGGTGCCCCGGGGTGAGGACACCTTGAGGAATGTTGTTCTGCT CTACACTCAGTGGATCCTGGTCCCTGCTCTCTACGGGAGGGGCAATTAAG GCGTGTTCAAGGTTCATCTGGACTCTAGACTTCTTCCTTACATGCTGACT TTTCAATCCAAGCCCTGCTCGAAAGCCAACTGTACTGCGCCTACAAGTGG AGCTCTGGACTGGAAGGCAAGCAGAGGGGAAGCCTTTGAAGATGGGAACC CAGTTTTGACAGGTATATTCGTTTTCTGTTGCTGCCATAATAAACTATCA CAGATTTAATCCCTTAAAACAACACAGATTTTGTCTTGCATTTCTGGATG TCCAAAGCCCAAAATGCTTCTTACTGGGCTAGAATCAAGGTGTTGGCAGG ACTGCTTTCTTTTTGGAGGTTCTCGGGGAAAATCTACTTTCTTGCTTTTT CCAGGTTTTGGAGGCTGCCCGCATTCTACCTTCAAAGCCAGCAATGGCCA CACATCTTTCTCACCCATTGCTATGACGCTGACTCCCTGCCTCCCTCTTC CCAACCTTCTCCATCCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTT TCGCTCTTGTTGCCCAGGCTGGACTGCGATGGCACGATCTCGGCTTACTG CAAACTCCGCCCCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGATTACAGGTGCCCCTCATCACAAACCGCTAATTCTTTGTATT TTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCAAACTC CTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGACACCGTGCCCAACCTTCCCTATTCCATCTTTTAAGGGCCC TTGTGACAACATTGGGTCTACCCCGATAATCCAGATAATCTCCTTATTTT AACGTGTGCTCATTAGCAACCCTAATTCCACCTGCAACCTTAATTCCCCC TGGCCACGTGACATATTCACAGGTTCCAGGGATTAGAAGGTGGACATCTT GGAGAGCAGATGATTCTGCCTGCCATAGCAGGATATTCAGAATTGGAGGT TCTTAACTATTAGGTTGGTGCAATTGCATTTGCACCAACCTAATATGACC CTTCTCACTACTAGGCAAGACAGGCTATTTCCCATGTAAGTGCCATGAGG ATGGAGTCCCTGTGTGGTGCATCCCTAGTGCCCGTCACGGTGCCTGGCAC ATAGCAGAAGGTCAACACACACTATACACAGACATATAATCTACAGACTC ACAAACTCACAGATGTGTGACATGATACAGACACAAGCATAGTTACATGC ACAACAAACAGATACACATGTAGATACACAAATACATGTATTCACAGATA CAAGCAGACACACATTAAATGCAAAGTAATGAGATTGATGCAGGTCCTAT TCCTTTATATTATAGTTCTGAAATTCTGAAATCAGCTTGTTCGTCATACT AGCATATCTTTGTTCTTTGGAAATAGCTAACTTATTGTTAATAAGGAGGT TAGGTAAAGTGCACATACTGTTTTGGCTTTAAAAACTAAATATTGTGAGA CTGATTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTCCCTCTGTCGC CCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACCACAACCTCTGCCTC CTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTGC AGCCATGTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAG GGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGAT CCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACTGGCATAAGCCACCG TGCCTGGCCCGGGACTGATTTTTTTTTGTTTAGCTCGTAAACTGACTCTT TGAGTGATTCCTAAAGAAGCAACTACTAATGCTTTGGAACATTTGTGAAG TAATTACATGTTCGTGTCAGCCTCTACCTCTCTGAAGCAGGGTACACCCC TGGGTGGTCAGTACTGGACACCTGTTCTGATCCACTTAAAATCCTCTGAC TCTGTTCTATGACCAGTTCTGAACAGGTGAGCAACTTTACACAGGTGTAA CCTGACAAAGCCTCCCTACAGGTGCACACCCTGTACCTCCCACTTCCTGT CCTCGGGGGCCTCTGTGGCCGCCTCCTTGGCACTTGCCCATATGGAAAGC TGGACATTTGGGGAGTTAATGCCTGTAGGGTCTCCCTTGACTAATTGAGA GGTGGGAGGCAGAGACAGTGAATAAATGTTTTTCCCTTTTATTCTCCAGG TGGAGGATTTGTAACTCTTCTACTGCCCCACATTGTGTAATCCACAGGAG CTTTGATCTCCTTGACATTCCACAGAATCCTGCTCCCATTGCGTGCTGCA TTGTGCTAATCAGACCTACAGGGCAGCAGCTGCAAGCGCTCCAGAGGCCC TAGTGGCGCACGAGCACGTGATGTGGGCAAGGAGGCCTCATGAGGATTCT GGGCCTGCCACGCTGAGGATGTTTACAGTGGTGCAGTGTCTGAGGCATTC TGAAGCATCTCATTCCAAATAAAGGGCAGGTTATTGCACTTTACTCCCTA TCACTAAGAAAGAGGCACGGGCCCAGCGGACCTCTCTGGATTTTGGAGGC AGCATATATACCACACTAAGGAGTGGTCCTCTAACCCATTTGTCAGTGCC TTGGAAAGCTGCCAGTGTTTTGTTTTGTTTTGTTTTCAGACAGGGTCTCA CTCTGTTGCCCAGGCTGGAGTGCCATGGTGTAGACCCGGCTCACAGCAGC CTCGACCTCCTGGGCTCAAGTAATCCTCCTGCCTCAGCCTTCTGAGCAGC TGCAACCACAGGACACCACCACACCTGGCTGATATTTTTTGTAGAAACAG GGTCTTGCCATGTTGCCCAGGCTGGTCTTAAACTCCCGGGCTCCAGTGAT CCTCCCTCCTCAGCTTCCCAAAGTGTTGGGGTTACAGGCATGAGCCACCA TGCCTGGCCAACCTGCCAGTTTTGAGTGGGGCCTAGAGCAAGGAAGGGCT CTGTAGCAGATCTAGGCTTCAGTACAAACTGCTCTGCCACTCACACCTTG TAAGACCCAGTAGAGCTAGAGGCATCCATGGTCCATAAGGTTGGCTATTT CAAATGCACAACTCACGAAAAATTAAAATAAACTTTATATGTCATTCCCC ACTTTGAAATGTACCCAATAAGGATCACCTTTCTTGCCCCAGATGAAAGT TCCAGCAACTTTTCTGCTCACTCTGTCTGCTTTTCTGCAGACAGTCCTCC GCCATACTAAGCATAATTTATTAATTAGAAGCTCCAGTCTAAGACTCAAA GTCCCAGGTTTTATTCAATGTTCAAATCTTCCCCACTCCCTAGCTTGGGC CTGCAGCAGGCTAGTGGCCTGCAGTGGGGCAGGGAGAACCCACTGTCTCT TCTCTATTTCTCCCCTTGCCCATCTCCTCCTCCTCCCTTATTCCCTTCCT CCCTCCCAAGCTGTCTGGCCAGTTTCTGACCCCTCCCAAGGATGGAGCAG GAGGTGAGAGCAGTGGCGAGGGTGCAGGAATGGCCTCAT	A A	splice_region_variant splice_region_variant	LOW	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0061 a0001c0005t0061	a0001c0005t0061g0129 a0001c0005t0061g0129	1	356	0.0028	-3888	c.45 others(11): Show c.4560_*8447del	JDP2	ENSG00000140044.13	transcript	ENST00000651602.1	protein_coding	4/4			chr14	TogoVar
EFCAB8_chr20_32853923_32966845	32937680	GTGATCTT others(3880): Show GTGATCTTGACTCACTGCAACCTCTGCCTCCGGGGTTCAAGTGATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCATGCCT GGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACATTGGCTAG GCTGGTCTCGAACTCCCAACCTCGTGATCCGCCCACCATGGCCTCCCAAA GTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCTAAAGAATTAATGT CAATTGCTCACAAACTCTTCCAAAAGAGTTCTCTATGAGGCCAGTATTAC CTTGATACCAAAACCAGATAAAGATATCACAGGAAAATAAAACTGTAGAC CAAATATTTTTATGAATATAGATACAAAAATCTTCAAAATACTAGCAAAT TGAAACCAACAACATATGAAAATGATTATACACCATGACCAAGTAAGATT TATCCCAGGAATGCAAAGTTGGCTAAATATCCAAAATCAATTAATGTAAT ACACCATATTAACTGAATAAAAAACAAAAGCCATATGATTATGCCAATAG ATGCAAAAAGAGCATTTAACAAAATTGAACACCGTTTTCTGATTGAAACA CCCAATAAACTAGAAATAGAAACTCCTTCAACCTGATAAAAGCCATTTAT GAAAACTCACAGGTAGCATAAAACTTCATGTTGAAATATTAAATACTTTC CTGTAAAATCAGAAATAAAACAAGAATGGTTACTCTTGCCACCCCAATTT AACATTTTATTGGGAGGTCAGTTAGGCAAGAAAATGAAATAAAAAGTATC TATATTGGGGAGGAAGAAGTTAACTATCTCTATCTGCAGATGACATAATC TTATATCTAGAAAATCCTAAATAATTTATTAAAAACTATTAAAACTAATA AATTCAATAGGGTTGCTTGATATAAATATACAAAACCAATATATTTATAT ACACTAGCAATAAACAATCTGAAAATGAAAATTTAAAAATTTCACTTATA ATCGCATCAAAAAAATACTTAGGAATAAATTTGGAAAAGTAGTGCAAAAC TTGATTCCTGAAAATTGCATAACATTATGGGAAGAGATGAAAGAATACCC AAATAAATGGAAATACATCTCATGTTCATTGATTGGAAGACTGGATGTTG TTAATATAGCATATTCCCCAAATTGATTTAATGCAATTTATATCAAAATC CCAGCTGCTTTCTCTTCTCTTTTCTCTTCCCTTTTCTTTTTCTTTTCTTT TCTTCCTTCCCTCCCTCCCTTCCTTCCTTCCTTTCTTTTTCTTTCTTTTC CTTCCCTTCCTTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCCTCCCTCC CTCCTTCCTTCCTTCGTTTCTCTCTTTCTTTCTTTCTCTCTCCCCAACTT CTTTCTTTTTTCTTTTCCTTCCTTCCTTTCTTTCTCTCTTTCTTTCTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCCTCTCTCTCTCTCTCTCTCTCTCTTT CCCTCCCTCCCTGCCTTCCTTCCTTCCATATTCTCTCTCTCTCTCTCCTT TTTTTTTTTGTTTTTTGTTTTTTGACAGAGTCTTGCTCTGTCGCCCAGGC TGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGT TCAAACGATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCAT GTGCCACCATGCCTGACTAATTTTTTTGTATTTTTAGTAGAGACGGGGTT TCACTGTATTGGTCACGCTGGTCTCAAACTCCTGACTTTGTGGTCCGCCT GCCTTGGCCTCTCAAAGTGCTTGGATTGCAGGCATGAGCCACCTCGCCTG GCGGGCTGGCTTTCTTTTCTTCCTTCCTTCCCTCCTTTTCTCCCTCCCTT CCTCCCTCCTTTCTCTCTCTGTCTCTCTTTTTCTTTTTTTCTCCCTTCCT TCCTTCTCTCTCTCTCTTTTTTTTTTCTTCTATTTGACAGAGTCTTGCTC TGGTACCCAGGCTGGAGTGCAGTGGCGCCACCTCGGTTCACTGCAACCTC CGCCTCCCAGATTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GATTACAGGTGCCCGCCACCATGCCTGGCTAATTTTTGTATTTTCAGTAG AGATGGGGTTTTGCCATGTTGGCCAAGCTGGTCTCGAACTCCTGACCTCA GGTGATCCACTCGCCTCAGCCTCCCAAAGTGCTACGATTACAGGCATGAG CCACTGTGCCTGCCTGCCTGCCTGCCTCCCTCCCTCCCTCCCTCCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTGCTTTTTGGAGATACAAGGGATATAGATAGTAAGAAAAAAATCTTG AGAAAGAACAGAGTTGAAGGACTCACAATTCCCAAGTTCAAAACTGAATA TGAAGTTAAGTAATCAAGACAATGTGATACTGGCATAAAGAAAGACATGT AAATCAATGGAATAGAATTTAGAGTTAAAAAATAAATTCTCACATTATGA TCAATTGATTTTTGACAAGAATGCTGAGACAATCAAATGGGGAGAAATAA TATATTTTTTAAAACATGTCCTGCTGGGACAATAGGGATAACTTTATCTG TATTAGAAGAATGAAGTTAGACTCCTACCTCATAACACATACAAAAATTA ACTCCAAATGGATCATAGACCTAAATGTAAGAGCCAAAATTATAAGACTT TTAGAAGAAAATAAATGGAAAATACTTGTGACCTTAGACAGTGTGTCTTA GATATGACACCAAAAACAAGCTACAAAAGAAAAAAACAGATAAATTGGAC TTTGTCAAAATTAAAAACTTTTGGGCTGCAAAGGATACCGTCAAGAAAGT GAAAGGGTAACCTGAAAGAAAATACTTGCAAATCATATATCTGATAAGGG ACTAGTATCCAGAATATATAAAGCACTCTTGCAACTTGATAAAAATGATA AATAACCAAATTAAGATACGGGTAAAGGATCTAAATAAACATTTCTTCAA AGAAGATGTACAAATGGCTAATAAGTATATTAAATGATGGTGAACATCAT TAGCTATCAGGGAAATGCATATTAAAACTATAATGAGATCCCACTTTACA CTTGCCAGGATAACTATAGATAATAGCAATGGTTGGCTGGGATGTGGACA AACTGGGACTCTTACACATTGCTGGATAGAATGTAGAAAGCTGGCCAGGT ACGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCG GATTATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAGCATGGTGTAACCC CGTCTCTACTAAACATACAAAAATTAGCAGGGCATGATGGCGGGTGCCTG TAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGG AGGCGGAGGTTGCAGTGAGCAGAGATCATGCCATTGCGTTCCAGTCTGGG CAACAAGAGCAAAACTCCAAACTCTGTTTAAAAAAAAAAAAAGAAAAAGA ACATAGAAAGCTGCAGTCACTTTGGAAAACAGTCTGGCAGTTCCTCAAAA ATTAAGTGTAGACTTACCATATTACCCAACAGTTCCACTCCCAAGTGTAT ACCCAAGAGAAATGAAAACATATGTTCACATAAAATCTTGTACATGAATG TTTATAGTAGCATTATTTATAATACAAAAGTGGAAACAACCCAAATGTCA ACTTCCAAATGGATAAAGTGTGGTATGGTGATACAATGGAATGTTATTTA ATAATAAAAAGGAATAAAGTACTGATGCATGCAACAAC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01243.hp1 HG01346.hp1 others(24): Show HG00741.hp1 HG01243.hp1 HG01346.hp1 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01981.hp2 HG02109.hp2 HG02148.hp2 HG02572.hp2 HG02630.hp2 HG02683.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03130.hp1 HG03834.hp1 NA18966.hp1 NA18968.hp1 NA19007.hp2 NA19068.hp2 NA20129.hp1 NA20805.hp2	a0001 a0002 a0005 others(10): Show a0001 a0002 a0005 a0011 a0012 a0014 a0023 a0024 a0026 a0034 a0039 a0042 a0051	a0001c0001 a0002c0002 a0005c0008 others(10): Show a0001c0001 a0002c0002 a0005c0008 a0011c0009 a0012c0012 a0014c0019 a0023c0024 a0024c0032 a0026c0028 a0034c0063 a0039c0066 a0042c0067 a0051c0068	a0001c0001t0004 a0001c0001t0005 a0002c0002t0001 others(13): Show a0001c0001t0004 a0001c0001t0005 a0002c0002t0001 a0005c0008t0004 a0011c0009t0001 a0011c0009t0004 a0011c0009t0005 a0012c0012t0004 a0014c0019t0005 a0023c0024t0005 a0024c0032t0004 a0026c0028t0005 a0034c0063t0004 a0039c0066t0004 a0042c0067t0004 a0051c0068t0004	a0001c0001t0004g0050 a0001c0001t0005g0257 a0001c0001t0005g0258 others(24): Show a0001c0001t0004g0050 a0001c0001t0005g0257 a0001c0001t0005g0258 a0002c0002t0001g0227 a0002c0002t0001g0263 a0005c0008t0004g0207 a0011c0009t0001g0250 a0011c0009t0004g0122 a0011c0009t0004g0124 a0011c0009t0004g0252 a0011c0009t0005g0009 a0012c0012t0004g0096 a0012c0012t0004g0110 a0012c0012t0004g0111 a0012c0012t0004g0197 a0014c0019t0005g0221 a0014c0019t0005g0233 a0014c0019t0005g0234 a0023c0024t0005g0043 a0023c0024t0005g0113 a0024c0032t0004g0064 a0024c0032t0004g0275 a0026c0028t0005g0260 a0034c0063t0004g0083 a0039c0066t0004g0109 a0042c0067t0004g0193 a0051c0068t0004g0218	27	282	0.0957	-3887	c.279 others(19): Show c.2791-5955_2791-2069del	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26			chr20	TogoVar
SMARCA2_chr9_2010347_2198620	2147643	CGAGACCA others(3879): Show CGAGACCAGCCTGGCCAACACGGCAAAACCCTGTCTCTACTAAAAATACG AAAATTAGCGGGGCGTGGTGGGCGGGCACTTGTAATCCCAGCTACTTGGG AGGCTGAGGCAGGGAAAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTG AGCTGAGTTCGCACCATTGCACTCCAGCCTGGGTGACAGAGCCAGACTCC GTCTCAAAAAAAAAAAGTAGGGCCTCACCCAGGCTGTAGTGCAGTGGCAT GATCACAGCTCATTGCAGCCTCCCTCAAACTCCTGGCCTTGAGTGATTCT TGCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTATAC CCAGCCATGAATGAGAATCCTAATATTAACAAAGCATGCTGAGTTTACAC TTGCCTCCCAGTTGTAACAGTCTAGCCCTCACCAAATTCAACAGCATTTC TGTTGCTGCTGCTGTTTTTAAAGAAACTCACCTTTTTGGAGTCTTGTATT GTTCATGCTCTTTATAGAACTAAGAACCCAATTTCTTCTCACAGTTACAT TATATTCATTTATGTAAGTACTATCTAATTGAATTAATGTAGCTCCAGTA ATAAGTATAACTAACATCAACATGTTTGGGAACACAGCTGATCATTGGTA TTTGAGCCAAATGGCAAGAGCAGAGTGGCCTAGACAAGGAAGGTCTGTGC AGTAGGCAGAGTCATAAGTAGTGGTCAGTTGAGTGAGCCTCTTAATTTCC TTCAGATTTATTGACTATCAGTTGTATACCCTCTAAAATTTTCTCTAGAT ACTCCATTTCTGGAACACATTTTAGGAGATGTTTTCTTTTTTTTATTATT ATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGC AGGTTTGTTACATATCTATACATGTGCCATGTTGGTGTGCTGCACCCATT AACTCGTCATTTAGCATTAGGTATAAGGAGATGTTTTCTTTCTTTTTTCT GAGACACACGCACATGCCACCACACCCAACTAATTTTTTTATTTTTTGTA GAGACAGAGTTTTGCCATGTTGCCTAGGCTGGTCTCTAACTCATGGCCTC TAGTAATCCTCCTGCCTCAGCCTCCCAAAGCACTGAGATTACAAGTGTGA GCCACGGTGCCCAGCTTGTTTTCTATAGATCTTGCCATTGCCCATTAGAG CACTTTGTGTTTGTCTCTCCTGCGCAAATCCTTGACTGTGCTTCAGTTGA CCTGGTCTCCTGGTGTCTCCTTCTCTGCCACCAACTCTTCATGTTGATTT CAGCCATGTATTACCAGCAAAACGGCTAGTCCTGGCTTGGAATACCAAAA AGCTATGGAAGCCATGCAGGGCCAGAATATAGCTAAGTGTGTTTATTAGT AAAACCTGCCTGTATTAGTCTGTTTTCACACTGCTGATAAAGACATACCT GAGACTGGGAAGAAAAGGAGGTTTAATTGGACTTACAGTTCCACATGGCT GGGGAGGCCTCAGAATCATGGCAGGAGGCAAAAGGCACTTCTTACATGGT GGCGGCAAGAGAAAATGAGAGAGATGCAAAAGTGGAAACCCCTGGCTGGG TGTGGTGGCTCACACCTGTAATCCAAGCACTTTGGGAGGCTGAGGCAGGT GGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGTGAAA CCCCATCTCTACAAAAATATAAAAAAAATTAGCCAGGCATGATGGTGGGT GCCCGTAATCCAAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAAC CCGGGAAGCAGAGGTTGCAGTGAGCCACGAACATGCCATTGCACTCCAGC CTGGGCGACAGAGTGAGACTCCTCAAAAAAACAACAACGAAAAAGGAAAC CTCTTATAAAACTATCAAATCTTGTAAGATTTATTCACTACCATGAGAAC AGTGTGAGGGAAACCGCTCCCATGATTCAAATTATCTCCCACCGGGTCCT TCGCACAACATGTGGGAATTATGGGAGTACAATTCAAGATGAGATTTGGG TGGGGACACAGAGCCAAACCATATCACTGGCCATGTTCACCTTTGTTCTT ATTTTTTTGCGCTTTAGAGATTCATTTTAAAGTTTATTGGATAGCAAATT GTCTTTGCCACATATATGTAGCTCTTAGCTAACCAAAACTCAAAATTTTG TTTGGCATTTTAGCTTTATTAAATAAAGTGGGATAGACATACTTGACAAA TAACCTTTTATATACTTAGCAACAGCATACAGACTAGATCTGAAATGAGT GTACATTTCAAGTTGGCTTCTCAAATTTAACTAGAACCAGACACTCCTCT ACTGACACTCTAATAATATGTGTATGTGCATCTATGTGTATTTATGTATG TGTACATACATGTATGTGAGTACATGCGTCTGTATCTATTGCTAACCAAA TACTTGTGTGTGAGTGCAAGGAATTAGAACCTCCCTGGGAAGAGCTAGTC ATCTCCTTCACACAGTATACTTTTTGCATATCTCCTGTTGGCCTCTGCTT ATTCATGGCTTCTACTCATAACATCCCTAGCATAATGCTACCTTATGACC TATATTCAACTTCTACTGCCATACCAACTGGACATGTTCTTTCACACCTG CAGCTCAAATTCTTAATAGAAGTGAACTGACTGGCTCAGCCAATCACTCT GGCTGTGCTTGTGCAGAGACCCTCATGCCAGGCCCCACACAAGCTTAGAG ACAGGGTACTCTGAGAACAGGGGACCATTCCCATCTCCATCAGGTGAGAC TAGGACAGATAGCAGCTGCCTGATACAGAAGATGGCAGCGCAGGCAGCAG ATGCTGTGGGTGGGGCAGTTTCCCTTAGATTATAGGATGGCAGGAAAGAT AAAGCCTGCCATCGTTTACTCCGAGGGGTGTGTTATATGTGCCTACGAGC AGCGTTGCTTTGCACCATTCCATATGTACACATTCCCATCACTGGATATA GTTAAACACCAGTCCCTCAATGACAAATTTTAGTTACCCTATGTAATAGT TTGCTAGGACTACCATTATAAAATACCACAGATTGGTGGTTTAAACAACA GAGATTTATTATCTCACTGTGTGGAGGCTGGAAGTCTGAGATCAAGGTGT CAGCAGGTTTGGTTTCTTCTGAGACTTCTCCCCTTGGCTTGTAAATGGCT ACCTCCTTGGTGTATGTATGCGGGGTTGTTCCTCTATGTGCATCTGTGTC TTAGCAGCCTTTTCTTAGAAAGACAGCAGTCATATAGGCCTAGGGCCATT TTAACTCTTTAAAAGCCCTATCTCAAAATACAGTCACAATCTAAAGTCTT GGGGATTAGGACCTCAACGTATGAATTTTAGAGGGATGCAGTTCAGCCCA TAACACTATAGTATAGCAATTCCGAGTCACTGCACATAAAACACAGACTT TGGGGCTAACTTCACAAATCACTATGTACATGACACATGTACATTTTGAT CAATAACTAATCATATCACTTCTCAGAATCTGGTGGTGATTTGTTAGCGA GCGTCTGTTCAGTTCATGCACAGACAGCAAAGTATGTAGCTGTGTTGCTG CCTTCTTTCTCAGTGAAAACATGACATTTAAAAAAATAGTTCATCAGGAG AGGGAATTGGCCACCAAAGATGAAAGTGCTGCAAAGAAACAGGTAGTAGT AATGAAGGAAGTGAAATTTGTTGTGATGAGATGTGAAAATGGCAACAGGA TAACGAAGACAGTACAAGACCCAGGCCAGCATGAAGCTACAGTACGAACC AGATTGAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAACACTTTGGG AGGATGAGGCAGGTGGATCACCTGAGGCCACGAATTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA20805.hp2 HG00738.hp1 NA20805.hp2	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0001 a0001c0008t0002 a0001c0003t0001 a0001c0008t0002	a0001c0003t0001g0020 a0001c0008t0002g0295 a0001c0003t0001g0020 a0001c0008t0002g0295	2	314	0.0064	-3886	c.398 others(21): Show c.3982-14029_3982-10144del	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	27/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
ATL3_chr11_63619087_63676376	63672491	AGGCGCGG others(3878): Show AGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTG GTTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCAGGCTAACATGGTG AAACCCCATCTCTTCTAAAAATACAAAAAATTAACCAGGCGTGGTGGCAG GCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAGGTTGCATT GAGTGGAGATGGCACCACTGCACTCCAGCCTGGGAGAAAGAGCAAGACTC CATCTCAAAAAAAAAAAAAAAAAAAAAGACTTCCTGCTACTATCTGACTT ATGTTTTACCTTTCATTGTGTTTGTCTCTTCCCACTGAATGTAAGTTCCA AACAGATAGGAATTTTTGTCTGTTTTGTTTACTTGTATATCCCCAGTCCC TAAATACTGCTGGCAGATAATAGAGACTCAAATATCTATTGAATTAATGG ATGAAGAAGATATATGTTACATCTAACACTGCTCACTCACTTTCTGGTTC CTTTAATATTAAATACCTAACTTTTACTATTGAACAAAATACCCTAGTTT ATTTTAAGGGCTCCCCAGAGATTCACTGAAATCCAACTTCTCAGGAAGTG ACCAGCAAATACTGATATATGTCTCAATATTACATCATCAAGGTATCAAG GTCAATGTTAGCACATCAGCATTGTAGCCCTTGTAGAAGCTTTTGGCATT TGGAACAAAACAGTACAAATTATAGGTGGACTTAAGGATTAGTCACAACT TAGAAAGCAACCCCTGTAAATGAGAAACATGTTTTGTGTTATTTCCTTCT CAAATATCCAGGGTCATCAAAACACTGGACATTGAAAGTGCCAAATATTG ACAATACTGGTTACAGCCTGCCTTCAGCTATCTCACTCTGAATTGAGTTA TGTGCTATGATCAGAGGTTGAGCTTCCCTTGAGGTTTTCCAGAAGTAGGT GACATGTAGACATATTTGAGTGGACAGACTACTGGCTTTGGGGTCAGACT TACCTGGCTCTGATGTTCACTAGCTATGCAACCTTGGGCGAGCTACTTAA CCTCTCTGAATCCATTTCATCATCTGCAAAATGATTTAAAGACCCACACG GTTGTTCTAGGCTAAGTGAGCTGTGTGTTTGGAAATGATGACTGCGTGGT TAGTGATCAAAATTAGTAATCAGCATATTCATTCTGGAAAAGCAAAATAA AGTCATAAATATTCAAGATACTCAAGTGGTTTATGAAACACAAAAATAGC AAAATTGTTTTCTGCAATGGCATCCACCATGACTCAGGTTCCAAAGCTTT CCAAAAATAGGTCATTTGTTATATGCCAGGTACCGTGATAGGCCATAATG CTGCATAAGACACATTCCTATCCTCCAGAGACTCGCAGTCCTGTGGGATA GACAGCTGAGGAAATATCATTCACTGTGACTGTACTGGGACACAGTTCAG CTTTCTGCCCTCTATGTGCAGGATCATTATTTAAGCAACTTGGAAGGGAC AAGTTGGAATACTACATCCCTGGGCATCATTTAAATTTCCATACCTTATT TTGCATGTGTGTAAAATGGGGTAATGATTTGGCATCTTCATTTGTAAAAA GAAAATAGCCAACCCCACTTGATAGGGTCTTATAAAGTTGAATATTAGGT CCTCAACATGGTAACATACTGAAAGCTTAAGACCTTGTCAGCTACTTCAT TATTGGTATTTCAGCCAACAGCACAGCGGTCTAACTGGGAGGATCTCTTG AGCCCAGGAGTTCAAGACCAGTCTGGGGGCTGGGGGCAGTGGCTCACACC TGTAATCCCTACACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCA GGAGTTGGAGACCAGCCTGGCCAACATGGTGAAATCCCGTCTGTACTAAA AATACAAAAACTTAGCCAAGAGTGGTGGCAGGCACCTGTAATCCCAGCTA CTCCAGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGCAGTGGTTG CAGCGAGCTGAGATCCTGCCATTGCATCCAGCCTGGGCAATAAGAGCAAA ATTCTGTCACAAACAAACAAACAAACAAAACGGTCTGGGCAACATAGGGA GATCCCATGTCTACCAAAAATAAACAAATAAATTAGCCAGGTATGGTGGG GTACCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGA GCCTAGGAGGTAGAGGATGCAGTGAGCCATAATTGTAGCACTGCATTACA GCCTGAGCAACAGAGCAAACCCTACCTCCAAAAAAAGAAAGAAAGAAAGA AAGAAAGTGGGGGCGGGGGACAGCGCACAGTGGCTCATGCCTGTAATCCC AGCACTTTGGGAGTCTGAAGCATATGGATCACTTAAGGTCACAAGTTCAA GACCAGCCTGGCCAACACAGTGAAACACTGTCTCTACTAAAAATACAAAA ATTAGCCAGGCATGGTGGTGTATGCTTGTAATCCCAGCAACCTGGGAGGC CGAGGCAGGAGTATGGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCA AGATCATGCCACCACTGCATTCCAGCCTGGGTGACAGAGCGACTCCACTA AAAAAAAAAAAAAAAAGGCAGTGGGGATGAGGATACAGATTTGCTATATT CACCTTTGCTTATGTTTGCCACAGGAATATCCTAATAGTGGCCAGGCTCG GTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCAGGCAGAT CACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGT CTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAG GCAGAGCTTGCAGTGAGCTGAGATCGCAGCATTGCACTCCAGCCTGGGCG ACACAGCAAGACTCCATTTCAAAAAAAAAAAAAAGAGAAAATCCTAATAG TAGCTACCTATATGTGTGTAGAGGAGTGGAGGGAGTTAGTGATAAAACTT TACAATATATATATTCCTGAATATTTGTGTACGTATATATGAATGATCTG TGACTACATATCAAATTTTTTTTTGAGATAGAGTTTCACTCTGTCGCCCA GGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACTTTTGCTTCCCA GATTGAAGCGAGTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACAACAGG CATGTGCCACCAGGCTCGGCTAATTTTTTTGTATTTTTAGTAGAGACAGG GTTTCACGATGTTAGGCAGGCTGTTCTCCAACTCCTGACCTCAGGCAGTC TGGCTACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGC GCCCGCCCTTCAAATGTCTTAATTTAAAATATATAATTTTTAAAAATTTA AAAATAAAATAAAATATATAATTTTTTCTAAAAGTCAAGAAAATATAGGG TAATTAGATGGCTTAGAAGTTAAACTGGGAAATTATCTGTATAGGCCGAG CACAGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGC CAATCACCAGAGGTCAGGAGTTCAAGAACAGCCTGGCCAACATGGTGAAA CCCCATCTCTAGTAAAAATATAAAAATTAGCTGGGCTTGGTAGCGTGCAC CTGTAATCCTAGCCAGTGGGGAGGCTGATGCAGGAGAATTGCTTGAACTA AGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCCCTCCAGTGT GGGCGACAAGAGCAAAACTCCGTCTCGAAAATAAAGAAATTATCTGTATA AGATACCAGTCCTGGCCAGGAGTGGTGGCTCATGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0051 a0001c0001t0016g0051	1	240	0.0042	-3885	c.-50 others(11): Show c.-5041_-1157del	ATL3	ENSG00000184743.13	transcript	ENST00000398868.8	protein_coding		1116		chr11	TogoVar
RASA3_chr13_113972783_114137623	113984471	CGTCCATC others(3876): Show CGTCCATCCACCCATCACTCACCCATCCGTCCATCCACCCATTACTCACC CATCCATCCATCCACCCATCACTCACCCACCCATCCATCCATCCACCCAT CACTCACCCTTTGGTCCATGAACCTAACACTCACCCATCTGTCCATCCAC CTATCACTCACCCATCCATCCATCCACCATCACTCACCCATCCTTCCATC CACCCATCACTCATCCATCTGTCTATCCACCCATCACTCACCCTGTCCAT CCATCCATCACTCACCCATCTGTCCATCCACCCATTACTCACCCATCCAT CCATCCACCCATCACTGACCCACCCATCCATCCATCCACCCATCACTCAC CCTTTGGTCCATGAACCTAACACTCACCCATCTGCCCATCCACCCATCAC TCAACCATCTGTTAATCCACCCATCACTCGTCCATTGCTCCATCCACCCA TCAGTCACCCATTGGTCCATCTGAATTCCTGCTGTCTGTAACCACCCAGC CTATGGTACAATTTTTACGGCAGCCCAAACTCACCAAGAACTTGGTACTG AGAAGTGGCTGCTGCTGTACCTTCAAATGTGGACTGGCTTTGGAACTGGG TGCTGGGCGAAGGCTGAAGGGGTTTGGGGGTGCAGAGCGGAAAAGGCATG GCTGCCATGAATGTCCTTAAAGGACAATGCTGGGGGCTCGGGAGAGGAGA GCTGCAGAGAAGTCCTGTCTTAGGGGATATCTAAGTAACCCTGAACAGAA TGGTGGCATGAGCATGGGTGGCAAGGCTGTTCTAACAACATCTCAGACAG AAAGGACGGCCATGCTACTGGACCGTGGAGAAAAAGCCATCCTCGTGACA AAGTGGACCTGTGTTCATGCCCTCGTGTTCTGGGAGGGTGGAACTCGCGA GTGATGACATCAGACACGCAATTGAGGAGATTTCTAAGCAAAATGCTGTG GGAGCGGCTTGGTTCCTCCTGACCGCTGACAGCAAAATGGGGGAAGAGAG ATGATTTGAAGGTGGAATTGTTGAGCAAAAAGGAACCAGAACTCAAAGGC TGGTTGAGTTAAAAGATTTGAGAATTAAAATTCCAGCCTACCCATATCTC AAAAAAAATGAGACAGCATGTTTGGAAGAGACCATTAAGCAGGTGGCTGT GTGGCTATCTGATAAGGAGACAAGTGTGGGGCTGAGCCTTGGACTTGACC AACCATCTCAGCAACAGCCGGGAGCAGAGAAGGAACCGCACCAGCAGAGG CACTGCCAGAAGAAACCAGGAAACAGAGAAAACAGGATGAAATGAAGGCA GGCTGCGGTGTCTTAAGCCCTACAAGCCAGGCCATAGAGCTATTCAGCTG TGAACATGTGCCATTCTTCAAGACGAGGGAAGAAGGACCCTGAAGTGGGT AGGGCCATCAGAATGCCACTCTCACCCAGAATGAGTCCATGGACCATGTA TCAGATGCAAAATTCTCAGCTGGAATATTGATTAAAAAATAAAACTGGCA ATAACTAGAAAAAAAATCGCAATAAGGAATCTGTCCACCCAGCCATCACT CACCCATCCGTCCATCCACCCATCTGTCCATCTACCCATTACTCACCCAT CCATCCCTCCACCCATCACTCACCCATCCATCCATCCACCCATGACTCAC CCATCTGTCGATCCACCCATCATCACTCACTCCTCGGTCCATCCACCCAT CACTCACCCCTCAGTCCATCCATCACTCACCCATCTGTCCATCCATCACT CACCCATCTGTCCATCCATCCATTACTCACCCATCTGTCCATCCACCCAT CACTCACCCATCCGTCCACCCATTCATCACTCACCCATCTGTCAATCCAC CCATCACTCACCCCTTTGTCCATGAACTCAACACTCATCCATCTGTCCAT CCACCCATCACTCACCCATCCGTCCATCCACCCATCACTCACCCATCCGT CCATCCACCCATTACTCACCCATCCATCCATCCACCCATCACTGACCCAC CCATCCATCCATCCACCCATCACTCACCCTTTGGTCCATGAACCTAACAC TCACCCATCTGCCCATCCACCCATCACTCAACCATCTGTTAATCCACCCA TCACTCGTCCATTGCTCCAGTCCACCGATCACTCACCCATCTGTCCATCA CCATCACTCACCCATCTGTCCATCCACCCATCACTCAACCCTCGGTCCAT CCTCTCATCACTCACCCTGTCCTCCACCCATCACTCACCCATCTGTTCAT CCACCCATCACTCACCCATCCTTCCATCCACCCATCTCTCACCCATCTGT CCATCCACCCATCACTCACCCATCCGTCCATCCACCATCACTCACCCATC CTTCCATCCACCCATCACTCATCCATCTGTCTATCCACCCATCACTCACC CCAGTCCATCCTCTCATCACTCACCCTGTCCATCCATCCATCACTCACCC ATCTGTCCATCCGAATTCCTGCTGTCTGTAACCACCCAGCCTATGGTACA ATTTTTACGGCAGCCCAAACTCACCAAGAACTTGGTACTGAGAAGTGGCT GCTGCTGTACCTTCAAATGTGGACTGGCTTTGGAACTGGGTGCTGGGCGA AGGCTGAAGGGGTTTGGGGGTGCAGAGCGGAAAAGGCATGGCTGCCATGA ATGTCCTTAAAGGACAATGCTGGGGGCTCGGGAGAGGAGAGCTGCAGAGA AGTCCTGTCTTAGGGGATATCTAAGTAACCCTGAACAGAATGGTGGCATG AGCATGGGTGGCAAGGCTGTTCTAACAACATCTCAGACAGAAAGGACGGC CATGCTACTGGACCGTGGAGAAAAAGCCATCCTCGTGACAAAGTGGACCT GTGTTCATGCCCTCGTGTTCTGGGAGGGTGGAACTCGCGAGTGATGACAT CAGACACGCAATTGAGGAGATTTCTAAGCAAAATGCTGTGGGAGCGGCTT GGTTCCTCCTGACCGCTGACAGCAAAATGGGGGAAGAGAGATGATTTGAA GGTGGAATTGTTGAGCAAAAAGGAACCAGAACTCAAAGGCTGGTTGAGTT AAAAGATTTGAGAATTAAAATTCCAGCCTACCCATATCTCAAAAAAAATG AGACAGCATGTTTGGAAGAGACCATTAAGCAGGTGGCTGTGTGGCTATCT GATAAGGAGACAAGTGTGGGGCTGAGCCTTGGACTTGACCAACCATCTCA GCAACAGCCGGGAGCAGAGAAGGAACCGCACCAGCAGAGGCACTGCCAGA AGAAACCAGGAAACAGAGAAAACAGGATGAAATGAAGGCAGGCTGCGGTG TCTTAAGCCCTACAAGCCAGGCCATAGAGCTATTCAGCTGTGAACATGTG CCATTCTTCAAGACGAGGGAAGAAGGACCCTGAAGTGGGTAGGGCCATCA GAATGCCACTCTCACCCAGAATGAGTCCATGGACCATGTATCAGATGCAA AATTCTCAGCTGGAATATTGATTAAAAAATAAAACTGGCAATAACTAGAA AAAAAATCGCAATAAGGAATCTGTCCACCCAGCCATCACTCACCCATCCG TCCATCCACCCATCTGTCCATCTACCCATTACTCACCCATCCATCCCTCC ACCCATCACTCACCCATCCATCCATCCACCCATGACTCACCCATCTGTCG ATCCACCCATCATCACTCACTCCTCGGTCCATCCACCCATCACTCACCCC TCAGTCCATCCATCACTCACCCATCTGTCCATCCATCACTCACCCATCTG TCCATCCATCCATTACTCACCCATCTGTCCATCCACCCATCACTCACCCA TCCGTCCACCCATTCATCACTCACCCATCTGTCAATCCACCCATCACTCA CCCCTTTGTCCATGAACTCAACACTCATCCATCT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0009 a0002c0004t0009	a0002c0004t0009g0011 a0002c0004t0009g0011	1	66	0.0152	-3883	c.224 others(19): Show c.2245+4131_2246-2614del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	22/23			chr13	TogoVar
CARD11_chr7_2901142_3048867	2902058	ACGGAAGG others(3875): Show ACGGAAGGACAGGCCAGCACCGGCAGAGCACCACATGGCTGTCAAAAGGA ATGCGAGAGGCCGTGCGGTGGCTCACTCCTGGAATCCCAGCACTTTGGGA GTCCGAGATGGGACCATCTCTTGAGGTCAGGAGTTCCAGGCCAGCCTGGG CAATGTAGTGAGACCTCGTCTCTACAAAGAATGTTTAAAAATTAGCTGAG CATGGTGATGCATGCCTGTAGTCCCAGCTACTAGGGAGGATGAGGCTGGA GGATTGAGCCCAGAAGGTTGAGGCTGTAAGTGGGCCATATTCATACCACT GCACTCCAGCCTGGATGCTAGCTTAAGAGATATGCCTACCTTGGCCTTCC AAACTGCTGGGATTCCAGGTGTGAACCCCCACACCCAGCCTGTGATGGCT TTTGAGAACAGCATGGTGGCATGATGCCAGGGCTCAAAGACATCTCACTC CTGCATTCACCCCCTCCCCAAAGCAGCCCCCTTCCTGGGTTGGGTGAGAA AACCAGCGTTTCTCAGAATTGTGACCTGGTTAGGTAGAAGCCCAGGGCCA GCGGGCCGACACTACCAGCGGGTGAGCAGACCGACTCTTCCAAGAGAGGA AATCCTGTAATCCCAGCACAGTAGCTGGGACTACAGGCATGAATCACCAT GCTCAGCTAATTTTTAAATATTCTTTGTAGAAACAAGGTCTCACTACGTT GCCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCCCAGCACTTTGGG AGGCCGAGGCAGGCAGATCAACTGAGGTCAGGAGTTCGATACCAGCCTGG CCAACATGGTGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGA GTGGTGGTGGTGCACACCAGTAGTCCCAGCTACTCAGGAGGCTGAGGCAC AAGAATCATTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTG CCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAG AAAAAAAAAAAACAAAAACGAAAACCAAAAACAAAACAAAAGCAAAAACA AATGCAACCAAACAAAAAACCACAAACAAGAGAGGAAATTCACATCCTCT CAGTGTGGTCATTATGTCACCCAGCCACCCAGCCCCCAGCCAGCCACTGC CTGGGACACCAACCACTTCCTTGGTCCCTAGAAGAGCAGAGGGGACACAC GACCAAAGGCCCTGGGACCCCAAACAGCACCTCAGAAATGGAAAATCCAG CCCCGAGCTTACAGTTGCAAATCAGCAGACCTGGGTGAAGTTCCAGCTTA CCAGCTGTGTGACCTTGGTCAAGTCACTTAACCTCTCTGAGCCTCAATTT TCACCTGTATAACATGGAGAAGAGTTTGGGGATAAGTAAAATAACATTTA CAAGGTGCTCAGCACAGAGGAGGAGCTCAAAAAACATTTGCTCATATTTG CCAAATCCCAGAGCAATAGTTCTTTATCTTTTTGGGATTGCAACACCCTT TGGGAATCTGAGAAAGGCTGGACTTTCTCCCCAGAAAAGTGTGTGTCTAC ACATACGACACAATTTCCAGTGCTCGCCTCTCACAGTGGCTCTGGGCTGC GTGGCTGGTGCCCATGGTGTGAACCAAGCATCGTTGTGGCATTGTCGGCT TGGCACAGGCATCCAGAGCCTCGGGCTCCAGGCTTTGCTGTACGGGGAGC TTCCCTGAGCCCTGGGCTGGCTCTGCAGTCAAAACTCAGCTTGCAGGCCC TTGTGCAATACTTGGACTTGCAGGCAGACGGTGCAAAGAGCTCCGTGCCT CCCTCCCCGGCCTCCCAGACCCCACTCGGCTCACCAGGCAGACACAGGGG TTGCTGGCAGCTGAACAGGCAGGACCTGGGGGCTGAAGCCGATGATGCTG GAGGTCTCCTTGGAAATCCTCATGTGGACCCGTCCCCGGGGTGCCAACCC CACTCCCCTGCTGCCTTCACCATTTCATCAGAGAAGGGAAGGGAAGAGGG AACCTCATTCCAGCCCTCGGCCCCTGCCTCCTCTCACCCGCTTATTAGCA ATTATCCACCCCACAGCCCTGCACTCTCGATCCTGGTTAAAATCACTCGG GCAAGGCAAGGGGGAAAAGAAACCCCACCACAGATTCTTTTCAGATATCT TTCCCTACGCACAGCTTATCTCCACCCCACTTGTCCTCCCAAATGACATG CAAGCCACCTGTTTGCTTATTCTGCTCAGCCACCCGAGAGTTCTGAAGTC AAACAAATGATATAAATCACTCAGCTGGCTTTTTGTCCGAGACTCCTTCC CGGTCACGTCTGTCCACTCAGCACGGAGCGCTTTACGAGGAAGCACAGCT TCCAGGCCGAAACACGAAGCCCTCGGCTTGGGGGAGGTTTACATTTTAAC TTAAGGCTTTCACAAGATGGAAGCTGCAGGCCTTCCGGCCCTAGCATGGC CTCGTGTGGTGGTTTATTTGGCCCTAAATAACGGCAGCTGCACCTAGGAG TCACGGCCTCTCTACACCCAGCACGTCTAGCTTGTTTCTGGGGGCTGTCT TGGAAAAAGCAGCATTGCTCATGGGCTCTTGGAGGGAGACACTGTTTTTC AAGGTGTCACACTCCCTGGCAGACCCGGAGCTGGTGGTGCAGAGATGGAT TGTGAGGGAGGAGGCAAGAACAAGGCATCCTCCTAGGACCCCCATGCATT CACTCCCACCTCCTGGAGATTTCTGCTGCTAATTTGTCTTCTGTAGGTCA AAATGCCAGAAAATGCTACAGGCCACACAGTATTTTCTTTTTTTGGAAGA GATCTTTATTAATAGAGTGCTTTTATTAATAATTCATACCTTGTCTAAGC GGTAAAAACCCAGCAGAGGATTAACCCATGCCCATGGTATTTGAAACTAT AAAGAATAAAGTTTTCTCCTGTATTTGTTAGGAATTGCTCTTGGCTGCAA GTAACAGAGAACTGAAATAACAGTCATTTAACACAAGACACAAATTTCTT TCTGTCTCATGTAAAAGAAACCCAAGCAGCAGTCCTGGGCCCCCAAGTAT CATCAGTGACTGTGGCTCCTTCTTTCTTTCTGATCTGCCATCCTCCAAGT GGGGTTTCCACCCTCACAGTCACCTCAAGATGCAAGAACACTGCTGGTGC TCCAGCCATTGCGTCTGCATCCGCAGCAGAAAACTGGAGGAAGCGCCATT TGTCTCTCCCCCAAACTTCCCCTTACATTTCCCTAATTGCAAGGGAGGCT GGGATATATGGTCTTTGAGCTGTGCATGTAGATTCCCAGGATGAGTCAGG ATTCTCTTAGGAAGGAAGGGGAATCTGGGTATTAGGTTGTTAGTGAGCAG TTGCTCCCACAGTTCCCACATTCAGACAGACCCGGGTTTGAATCCGAGCC TGCCACCCAGTAGCTTCCTGCACATGCAGTGTGGTGCCCCGTGAGGGTGC AACCTGGCCTGGTTTGGCTGTGCCTGTCAGGTCCACACTCGGCAAATTTG CGTCAAGGGGGTGAAGGAGAAGAATGGTTCTAGAACTCCTAGGACTTTTG CTACCTGCTGGGGAGCGGGCGTGGCTTTCCTGCACCCCTCAAGCTCCTGG GAAGTGGGGTATGAACCCCCCAGAGGGCTGTACCTCACGTGCTTGCTCCT GACCTGCAGGAGGAAGCGGGGCTGCCCTTTAGGGACATTGAATGTGGGGC AGGGGCAGTTATGTGCAGAGAAGAGCTGAGTGACGGGGGCCTGGCCTCAG GGCTGGAGTTACGGGGCAGGCCAGACACAGACTGCAAGGGCTCCCCAGGG TCAGTGAGAGGATGGGCCCTTCTCAGGGTGACAAGATAATTTATTGATCT TCCAAATCAGGATGCATTTGAGTCCATAGGGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0001 a0001c0041t0001	a0001c0041t0001g0145 a0001c0041t0001g0145	1	320	0.0031	-3882	c.69 others(10): Show c.698_*4579del	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding		4083		chr7	TogoVar
AGL_chr1_99845361_99929020	99924797	TTTGCTTA others(3874): Show TTTGCTTAGTAGTTGTTGGTTCCCTCCCCCAACCCCCCCAATTTGTATGA GCCTTGAATTATAGAGTAGTGCTAATACTTTGTCATTCTGGCTGTAGTTA TTTTGGTTAGAGCAGGGGTTTTGTTTTTGTTTTTTTAAAGAGTCTTGCTT TGCTGCCCAAGCCTGATGACAGACAGCTCATTACAGCCTCAACCTCCTGG GCTCAAACTACCCTCCCACCTCAGCATCCCAAGTAGCTAGGATGACAGGC GTACAACTACTGCACCCACCTAACTTTTGCATTTCTTTTTTTGTAGAGAT GGGGGTCCACACTGTGTTGTCTAGGCTGGTCTCAACCTCCTGGGCTCAAA CTACCCTCCCACCTCAGCATCCCAAGTAGCTAGGATGACAGGCGTACAAC TACTGCACCCACCTAACTTTTGCAATTCTTTTTTTGTAGAGATGGGGGTC CACACTGTGTTGTCTAGGCTTGGTCTCAACCTCATGGGCTCAAGCAATCC TCCCACCTCAGCCTCCCAAAGTGCTGATTATATAGGCGTGACCATTTCTG GCCAGCTTTTTTCTTTAATCAGATCTTTCAGCACTTGCCTCCACGTTTGT AATCTCTACTGTCTCCTCAAAATTTACATCAGTCTCAATAATAACCATTG TTTCTATTTCCAGTTTTATTTTTTTTATAAGTGCATGTGGTATGAGATGA GACATTACTTAGGCTTTTTTTTCCAAATTGTTAAATCCCAAACTTATAAG TTGAATATGATTTATGGGAAGTCCTTTTTTAATCTTGCATTATTCTTTAC TAGTAGGGTCTACTTCTAGAATATACTGTTTTCTGTGCCCATTCACCTAT TTCACTATTACAGTTTTTGTTTTAATATTTGTTAGAGCATTTTGTCACCA CGTTTTTCTCTCATCGGTTCCCTCGTCTTCTTTTTCAGAATCTTATTTAT TCCCACCTATTCTTTGTATGTATTTTTCCAAATCCAAAAAGTATTCTCAG CATTTTTACTAAACAAGCCCTCATACTATTAATTTGATAACAACAGACAT ATTGACATTATTTAATCTTAAAACATAAGCTATTTATTTAAAAATTTTTA GCTTGTTGGAATTCTTCCTAATTTTTATGTTTATGATTGCTGTGGTCCAT TTTGGTTCAATTTGGTGGTCAATTGGTCAGAATCGAAAATTCAGATTCAA GAAACATTTATGGAGCCCCTACTATATAAGCAATTTTACATTGGAGGTAT TATATCCCTTTTGTAAATCAGAACATTGATAATCTTACCATAAATCACAT AGTGGATAAATTGTTGGACCCAAGACTCAAACTCTGATTTTCCTACCACA AATCCTCTTACACAAACCCTCAAGATTGCTGTCTTCTGTGCTTGCCCTCC TGCTTCCTGCAACCATCAACCCACAGGACCCACTGTTGATATTATCGGTT TCCCATGGAAAGCATTTAGGTCTGTTCTCCTTGGGCCTAGGTATACTTCC TTATTATTACCTGGCCAAAATTCTGTATCTGCAGCCATCTGCACTAATCA GATAACCCCATGTGTTCCTGGCTAAATGTGTAGACTTGGTGCCAAGCATG GGCTAGGTTATACAAGTAGGATAAATTTGGAAATATAAGTATCTTATCAA GGACAGTGAAACAGAAAAGTCAGAGACAACAGGAAGTGTTAATAATTAAG AGAAGGCCAACTGGTTAAAGTTGGTCCAAAGGAATTTCGGCCAAAAAGTG GGGCCCATGCCCATGCATTTTTAATACCAAAGGAAACAATCTATGGAAAT TCACTAAAAAATATGGCACTTAATTCTGCAAGTGTTCAATGTTAATATAT TTATTGTAATGGATATATTTTCAAAGTACAAAACTGAGCACTAAGTCTTA TTAGATATCTTTTTTACCACATAAAGGAGCAGTACTCCAAAAATGATTTA TCTTGGCTCCCACATCACATTCAATGGATCACAAAGTCTTTTCACTTTTA CCTGACTGCAGATTTCTACTCGTACTCTTATCTTGTGCATAGATTAACAC AATAATCTTTAAATTGATCACAATTTATCCCTCATGGAACTATGAGGAAA ACCTTTCTTGAACACTGATGCTGTCCATCACTGGTCAGAGGACATTGAGG ATTCGCTATGATTTGGCCTCAGTCTCTTTCCAGTCCTATTGTCTTAGTGT CTCCTTGCTGTTTCCAAAGCTGATTACTTGCCTCCCTGAAACTTTGTTTC TTCAATTGTAAAAACAGTGACTGTAACATCTGTGGGTAGTAAGAATTCAC GAGGGCAACCCATAGTGTATTTAAGTTTCACTGCCTATAATAGAACCTAA ATAACAATGGTCTACATAAGATAAATGTCGAAGGTGTGCACCCCAGATTT GATATGATGGTTCCATTGTCATCAAGAACCAAAGCTAGCATTTAATGACA TAGAATATTCAAGAACTTCTCAAATATTTCTTTTAATATGAGCTTATTGT CTCTTAGATATTATAAGCAGGGGTAGACAATAATCTGTTTACTTTTTGTA ATGTTTTTAGCGGCAGAGTCTCACTCTGTCACCCAGACTGGAATGCAGTG GTATGATCATAGTTTACTACAGCCTCCAACTCCTGGGCTCAAGTGATCCT CCTGCCTCAGCCTCTCAGAGAGCTGGCACTACAGCCATGTGCCACCAAGC CTGGCTAATTTTTAATATTTTGTAGATATAAGGCTTCACTGTGTTGCCCA GGCTGGCCTCAAACTCCTGAACTCAAGCGACCCTCTAGCCTCAGCCTCCC AAAGTGTTGGGATTACAGGCATGAGCCACTGCACCCAGCCTATTTATTTT AACAATAGGGGAAACAACTCAAATTTTACATCATCTAAATTGATGGCAAA TTTTAAGGCTTGGCTAAAATAACAAATTTTCTCACCTAAAAAAAAAATCT GTAATTTTATACTTAAACTCTAAAGAAGCAGAAGAGCTATTACTGAAGTC TTTACTAATAAAGCAAGATAGAATTTTATAGGAATTTTTGTTCGTTTTGG TTTGGTTGATTTTAATTCTACTTTGGTCTTTCTCATCATTGGACAACGTG GGGAAATGTATTTCAGACAAATAAATGAACTAGCTTGCAATAAATAGAGT GTGACTGTTTGATAGACTTCCCTTCTTTCTGAATGTCTACAAAAGATAAG CTTTTTTATTTTCTTTAAGCAACTTCAAAGCATTAACTCTTAGACCTAGA GATCGGTTTCCTTTTTTTTTTTTTTTTTGAGATAGAGTCCCACTGTTTTT CCTAGGCTGGTCTTGAATGCCTGAGCTCAAGCAATCCTCCTGCCTCAGCC TCCCTCAGCCTTCAGAGTAGCTGGGATTACAGGCATGCAACCCACATCTG GCTAGAGATCTATTTCTATTAGAGATTCACTTACTGGAATTCAGCTCTGC ATACTCAGAAATAAGCAAATATATGCTTCCCTGGGGGGGTCTTCATTTCT GTGTGTTTCTCATAATGTCATTGTTCCACTGAGCCAATTGTGAGTCCAGT GTTTAAAAATATACCATTTCCATAAGACACAGTTCCCTAAACCAGTGCTT CCAACCCTTTACATGTTATAGAACACATGTAAAAAGGTAAGCTTGGACTG AGTGTGGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCAAGGTGG GAGGATTGTTTGGGCCCAGGAGTTTGAGACCAGCCTGTGCAATATAGTGA GACCCCCATCTCCACAAAAAAATTTAAAAATCAGTCAGGCATGGTTGTGC ACACCTGTGGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGCTCACTGGA GCCCAGGAGGTCAAGGCTTCAGTGAGCTGTAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0022 a0002c0003t0005g0022	1	316	0.0032	-3881	c.31 others(11): Show c.3147_*7027del	AGL	ENSG00000162688.17	transcript	ENST00000361915.8	protein_coding		778		chr1	TogoVar
GREB1L_chr18_21237232_21531112	21372742	AGAAACCC others(3874): Show AGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGCATGATGGCGG GCGCCTGTAATCCCAGCTAGTTGGGAGGCTGAGGCAGGAGAATCGCTTGA ACCTGGGAGGTGGAGGTGGCGGTGAGCCGAGATCATGCCAAAACAACAAC AAAAAATTATGAGATTTTTTTTGCAATTTTTCCTTTTTCTTTTCTTTTCT TTTTTTTTGCTCATCAGCTATTGTTAGTGTTCATGTATTTTATGTTTGGC CCAAGACATTTCTTCTTCTTCCAGTGTGGTCCAGGGAAGGCAAAAGATTG GACACCCCTGTTCTAGAGGGATGACTAAATTCATGATACCCTTTGGCAGG AATGCTTCCTAGGTGGTGAGTGTGCTTCATATCGTCTCCACTGAGAAGGC ACGCATCATCTCACTGCCTCACTTTTAGTGATGCTAAGCTCAACCAGTGG GTTCAGGAGGTGACAGCGGGATCTCTCCATTATAAAGTTCCCTATCAACC TTCTGTCTCATGGTTTCACTTATTACCATTGCCTGCATGAATTTTTCATT AGGGGTTACAAAGTGATAATTTTATAATTCTGTCATTCTTTGCCCCCTGC CTCCTTTTTTTTCGAGACAGAGTTTTTTGTCACCCACGCTGGAGTGCAAT GGTGCTATCTCAGCTCACTGCAACCTCCGCGTCCCAGGTTCATGCGATTC TCCTGCCTCAGTCTCCCGAGTAGCTGGGATTATAGGCACCTACCACCGTG CCCAGCTAATTTTTGTATTTTCAGTAGAGATAGAGTTTCACTATGTTGAC CAAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTC CCAAAGTGCTGGGATTCCAGGCCGTGAGCCACTGTGCCTGGCCCTCTTTT TGAACATTTTTTAGCTGGAATTCTTCTTTTAAAAAAATTCAAACTCTCAA TAATCAGGACTATTTGGTTACTTGGAAGTACAGAAAGAGCAGAATAAATG CTTTGTTCTTTTCTTTTTGAAGTACAGAAAGAGTAGAATAAATGCTTTGC TCTTTTCTTTTCCTGCTTGTAGTGCTTTGTTTTTGTCTTTCCAAAGGAGC TCTTGCTTTTTCTCCTGTAGTAGCAAAATTAATTTGTGAATTTTTATATT TTAAATTGCTTTGGTCAGTTGGATTTATTCTCTTTTATGTTTGGTTTCTC TAATCTTTAGCCTATGGGAGCTCTTCAGGTAGTCTCGTATGTCTTCTAAC ATGCTTCATTAGTTCTTTTTTTTTTCTTCAGGCCAGGTTTCACTCTGTCA CCCAGGCTGGAGTGCAGTGGCACAACCACACTTCACTGCAGCCTCCACCT CTCAGGCTCAAACAATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGACCG CAGGCACACACCACCACATGCCCAGTTAATTTTTGTATTTTTTGTAGAGA CAGGGTTTCGTCATGTTGCCCAGGCTGGTCTCAAACTCCTGGACTCAAGT CATCTGCCTGCCTTGGCCTCCCAAATTGCTGGGATTACAGGTGTGAGCCA CTGCACCCAGCCTTATTAGTTCTTGATAACCTTTGCTTTCTTGTTCAGAT GTTCGAGGCTCATCTGGAGTATTCCCTGCCCCAGACTTGGAACTGGTCAT ACCTTGAAAAAATCTTGATTCCTTTCAGTGTGGAAGGCATTAGGCCACTA CAATCAGAGTATAGGAAGTGCTTATTAATAGTAATTGAATGGTATTGCTT CTCAGATTTTTCAGTAGACAAAGCTTAGAAATACATATTTTAAAACTTCA AATGAGTTATTACTTAGAATATGTACATCCCCATCTACCTGTACCACAGC TTACTTTGCTGTTAAAATCACACAACCCCAAATTAGTGTTTTAGATTCAG TTCTTTTTCTTTTAGCTTGTACATGATCTTTTTAAAAATCAGTGTTTTTC TTGTTCTTCCTTGTCATTTCCTTTTTAAAAATACTTTTAAAAATTAATGT TTATTTGTTCCAGATAGTTGGTATTAAAAGAAACTTTTATTAAAACCCCA AGTGCAGTACTTGAAAATATATTTATACTTAATCAAAAGGGGAACTTTTT TCCTTTTCCTTTTTTTTTTTTTTTTTTTCCACACAGGGTCTCATTCTGTC AGCCAGGCTGGAGTGCAGTGGCATGATCATGACTCACTGCAGCCTCAACT TCTGGGCTCAAGCAGTTCTCCCACCTCAGCCTCCCAAGTAGCTGAGACTA CAGGCACCTGCCACCAATCTTGGCTAATTTTTGATGTGAGGAGGTTTTTT GTTTTGTTTTGTTTTGTTTTTTGTTTTTGTTTTTTTTTTTGAGATGGAGT CTCACTCTGTTGCCCTGGCTGGAATGCAGTGGCACGAACTTGGCTCACTG CAAACCTCCGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCGA GTAGCTGGGACTATAGGCACGCACCACCACGCCCGGCTAATTTTTGTATT TTTAGTAGAGACGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTTCT GACCTCGTGATTCATCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCACCTGGCCCTGATGTGAGGAGTTTTTTATTAGAGCGGT ACGGTTATTTTGTTGTGATTTTTAAAATTGTTATTTGGCTTTGTGACTCT TAGGCTCATATCTTAAGTTAAAATTTCCTTTTCAGCCTGTCTTGCAACTG TGATAAATAGAGATGAGGCCACATCAGCAAACAAACATTTTCTTTTCTGA TTTTTTTCTTTGGAGGTCAGCAGTTTTATAGTACATTACCAAGCATTCAT TTACCCAATTGGGCCATCTTGGTCAGTGGGTTAGTAGCTTAATGGTCTGA GTGATAAAGATAGCACCTAAGAGAGCTGCTTCTGAGCCAAACTGATTTGG TTCTACCCTGTTTACCTGTTTCCTTGTAGGGTGATCTTAGGCAAGTTCCT TAACTTCTCTAAGCCTCAGTTATCTTGAAAATGTGAGTAATAATAGTGCT TGCTCGGCACTTAGTAAGCTCTCCATGCTACTCTTGCAATCACTGAAGGG ATGCTTTCTTTCACATTTTTTGACAATAACTACCACCACCACCACCATCA CCACCACCACCACCACCATCACTACTGCTAGTAATAATAACAACAGCTAC TATTATATTAACTGCCAGTAATGCCTGCCATTGTAACATGTGCTTCACAT ACAACTTTAACTACAAGTATGACTGTATATTCTGAAATCAATGCTTTAAT TCTAAAAAGTCTTTGAGAGTTAAGGGAAAATTTTATCACTGAGGAGGGCA TTTCTCTCTCTCTCTCTCTGCTGTATACTTTTTTAAAATTTTTTTGAGAT GGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGC TCACTGCAACCTCCACTCCAGGGTTCAAGTGATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTATTTTTTG TGTTTTTAGTAGAGACGGGGTTTTGCAATGTTGGCCAGGCTGGTCTCAAA CTCCTGACCTCAGGTGATCCACCCACCACCTCAGCTTCCCAAAGTGCTGG GATTACAGGAATGAGCCACCTGGCCTATTTTTAAGAAAAAAAAAAAAAAA GCAAAAACAAAGAACTGAGGGGCCCAAAAATCTCACGTCACTTCTGTAGA TTCTAAGACATAATTATGAAAAAATAGACAGGGCCGGGCGCAGTGGCTCA TGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGT CCGGAGATGGAGACCATCCTGGCTAACACGGT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0039 a0001c0001t0005g0039	1	146	0.0068	-3881	c.-10 others(16): Show c.-10+6629_-9-6865del	GREB1L	ENSG00000141449.16	transcript	ENST00000424526.7	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
ARMC2_chr6_108843422_108979476	108957146	CTTAGGCA others(3873): Show CTTAGGCAGTTGTTTGGGCAAGCAGGTGATCCCTTCTCTATTCTCTCCTG AAAGACTTTATCTCCAAATAAAAGTTGATAGAAGGGCAAAAGTCACCCCT GACAGGGGGTCACCCCCCTCCACCTTCCCCTTACACAGCTCGACTCCTGG GTGAGTTTCTAAGCCCTGCTAAGCCCTTTCTACACTGGTCTCTGTGGATT TCCTACCTGTTTTGTCTGTGTCGGTGTGGAGTGGTGACCACATTCCAGGA AAGGCCTCCTGCCCCCTCTGACAGGCCTGGCAGCTTAGAGCAACGCAGGG CCAGTGCTGGGCTGTGACTGTGACTATAGAAAGGGCCTGCCCGTGGTTTG GTTGTGCCCACTGAACTCAGAGTTGCTGCTGTCCTGTTTACCCTCAGAGC TGAGCACTCCTCCCAGCCTGATGGCTCCTGTGGCATGGCCCCCTTCCCTA GTCATGTGGGAAGGGCATCCCTTAGGCTCTTTTCTTCCTACCTCCCTCTA GCCCTGCACCCTTCACAAGGAGTTACTTGTACCCCAGGACTTGCCTAGAG AGGTCAGCCTCATTGCAGAGGGTCTTTTAAAAATCAATAATGTTTCTAGT AAGAACTGACCCTCTCAGTATGCCACCAGACTCAGAGATTTGCTGACTTA GTGGCAAGTCCAAATTCCAGATTGTCTCATATCCGTGAGTGAATTATAGA GGGTAGGATGGTTGTCATGGTTTTTTGGAAGCAGTCTATTGCCCCAACTA GCTCCAATGGGAACTCAGCAACCCTGAGTCCTTGGCTTCCGCAGCGTTCT GTGGAAAGAGTAGGATAGTAGGGGTCAAGTACACCTGGATTTAGATGTGT GCTCTGTGAAGTGAGGTGAGGTATTGAACTTCTCTAAACCTCAGTGTTCT CATCTGACCCCTAAATTCATCTATGAAGTCCTAACCCCCATGTGATGGTA TTTGGAGATGGGGCCTTTGGGAGATAATTAGGTTTAGATAAGGCCATGAT GTGGGGACCTCATGCTGGAGTTAGGGCCCTTACAAGAAGAGACACCAGAG CCTGACCATGCAGCCTCCCTGATCTTGGACTTCCAGCCTCCGTAACTGTG AGAAAATAAATTCCTGTTGGTTCAAGCCACCCAGTTTATGGTATTTTATT ATGACAGGCCAAGGTGACTGAGACAGATGCACCTTTCGAGAATGAATTAT TGTGGGTGTGAATTCTTGTAAGTGCATGTAAAACTTATTAGCTGACTTTT GAGGGTTACATGCATGGTAAAGTGCCTAGTGCTGTTTATGATAAATGCTT AGGAGCTGTGAGTACCTACCCTCTAGTTCCAGATACCAGACACCATTCCT GCCGCCCAAATGTGTGGTCCTTCGGGAGGTCAGACAATAAGAGCTACCCT GCATTTTCTGGACAAGCTAACGAATTCTCCTACCAAGGCAAGAGAAATAA AACAGATCCCCAAACACTGCCCAAGACCTAGTGTCATCAGTCTGGGGCTG GAGGAAACTAGGGCTGTAGGCCCTTTGCCCAAGAGTTAGACATTCACCTG AGCTGCTCCCCATGAGCCGTCATTCTGGATGGCCCATCTGTTCATGTAAT AAGCACTTACTTAGCACCCACTATGTGCCATGCACTCATTTAAGCCCTTG AATGCATTTAAACTTTGTAACAACTCTATAATGTAGGTGCAATGATCATG CTTACTTTACCATCAAGGAAACTGAGGCCCAAGGAGGTTAAATAATTTGA GTAAGGTCACACGGCCAGTGAGTGGAAGCACAGGGTTCTGGCTCCAGAGT CCTGGCCAAAGCAAGAGGGAATAATTTGGAGGTCCTGTGTCCCTTCTTTT ACCATAACTAGAATATTTCCTTACAGTAGAATCCATATTGATAACCAAAA TAATTCAGTTCCTTATTCCCTTTTTATATACTTAAACTAAAAAAGAGGAA GTCAGGTCTTTATTTATTCTTTCTTTTTCCAAGTATCCATTAAGTGTCTA CCAGGTACTGGGCCTATGCTTGCTGCTCTAGCGGGAGGGGCCACTGGCGG AAGGAACAGTGTATGTCTTCTGCAGCCTACAAATGACTGAGCTTTCCTTT CAACATAGTAATTTATAAAAAGGCTGTTCTCTTTAATGAACAGGAAAAGA TGGCCAAAGGGGGCGATACTTAAGTTGGAGAATTCAAGAACAAGCACAGT CCTCTTCCTCAGCTCATAGCCCCCCTGCTTGCTCCCCAAAGAAAAACTTC GGTTTCATACAGGAAAGAAAAGGCACTTCCTATTCAGTAATGGGAAGTGG GCAAGTCATGAGCCAAGTTGTGTGCAGGTGCTGAGTGGCCTCCCTCGCAG GCTGGGACTGGGCCTCTGGAGCAGGTGAGACCAGGTGGAGAAGGACTGGG GGCTCTCCCAACAGTGGGTGGACTTGTGCAGGAGGGAGGGGAGGCGGTGG CCTGTTCAAGCTGCAGTCACTGGCTCAGTGTTGCCGGGCTCGTGATTCTT TCTCTGATTGCCCAGCTCTTTTTTATTTATTTATTTATTTATTTTTATTT TTATTTTTGAGATGGGGTCTCCCTCTGTCACCCGGACTGGAGTGCAGTGG TGCAATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTT CTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTTGTGCCATCAAGTC TGGCTAATTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTGTCCA GGCTGGTCTCATACTCCTGACCTCAAGTGATCAGCCCGCCTTGGCTTCCC AAAGTGCTGGGATTACAAGCACCTGACACCACACCCGGCTAATTTTTTGT ATTTTTTGTAAAGACAGGGTTTCACCGTGTTGCCCAGGCCGGTCTGATTG CCCAACTCTTAGATCCAACTGTCTACCCCTCCTCTCCTGGGGGTGCTTCA GAAGCACCTCAGCATATCTTAAGCTGAATTCATGACCTGTCCCTGAACTT GGCCCTCTTCCTGTGCCCTTATTTCAGACAATGTGGTCAACATCTACCCA ATTATGTGCACCGGCGGGGGACACCCCGGGTGATTCCTCTCCCTCACACC CCCATCCAGTCTCTGCCAAGCACAGTCTCCACTCCGCCACATCTCCGCCA TCACCCGTGTCCACGCTATGCTGAGGTCACTGGGACCACTCCCAGCTGCA GCCCTGCCTCTTCTCATCCTCACACTGTGGCCAGAAATGTCAAGAGATGA GTCTGGAGACTGAGTGGGAGGCAGGGACAAAAACCACTAAGGGCCTTATG TGCTAAGCTAGAGGATCAATTATTCTTGCATCCAGCACTCACTATGTGCC AGGCACTGTTCTAGAAGCTGGGAATGCAGCCATGAAGAAAACAGACACAT CCCTAGGCCTCAGGAAGCTGACATTTTAGGGCTGAAAGACAAACATTAAA CACATATATAACATCAGGTGGTCATATGTGCTATGGAGAAAATTAAAGCA GGGTGAGAAAAAAGAGAATAGGTGCTATTTTAAATAGGGAGGTTACGGAA AGTATGTCCAACAAGGCGGCATGTAAGCAACTGCTAGGAGGACGTAAGGA GTGAGCCAAGTGACTAACTGGGAGGACAGTATGTTCCAGAAGAAAGTTCA GCAGTGCACGGGTTCTCAGGCAGGGGCATGCTGGCATATTCCAAGAGGCC AGGAGGCTGGTGTGGTTGGCCTTGGGGGTCTGGGAGTAGGAGGAGCAAAT GAGGCCAGAGAGATAAGGCCTGGAGCTGCCAGGTAGGTCTTGTGAACCAG ACGACGCAGTCTATTCGTGGGTTATGAGGTGGGTGGCAGTATCTGACTTG CTTTTAAAGGATAACTGTGTTGAGAATAGAT	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0288 a0002c0002t0001g0288	1	288	0.0035	-3880	c.191 others(18): Show c.1915+3801_1916-541del	ARMC2	ENSG00000118690.13	transcript	ENST00000392644.9	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
OR5K3_chr3_98385666_98396631	98392752	TGAAACCC others(3872): Show TGAAACCCAGCAGAGCCAATTCCCTTTCACCATCAAGAGGAAAACCAGCC TGGAGTTGTAGTCAATACTCAAATGAGGGCATAGCTGAAGAAATCACACA GAAATAGACCCAAAATCTCTGGAGTAAACCATCTCTTCTGACTGTATAAT CCAATAGACCTTCTTATCTTTTAAGCTTATTTGGCAGAGATGTTTTATTC ATGACTGAATAAATACTAACGGATACATTCCTGCTTCTTGACTATCACTC GTATTTGTCTCTTTATATTCTATTTTAAATTAATCCTCAGGTGATCTTTT AGTTTTCAAATAACTTTTCAGTGGTATCCATTTTACTGTACAGCAAATTA ATTAGGTTTTTTACTCTTATTACTATTTTAATTTCTAATAACCTTACTTT AAAAAAAATGAGGGACAGAGAAATTTCTTGTCTACAGAAATACAGTGGTA GAGCTCAGGAACCAAACCCAGGCTATCTGGCTCCAGAATCCATGGTCTTA ACCACTAAGTCATACTGTACATAGCACAAACTAAAAGCAGGAGAGGAAAC ATTTTAACAATCTCAGCTGTGAAGTGGGCAGAGAAATAGGGCAGAGATTC AAAAGAGATATGGATCAAAGACATTTACCTCCAAATTTATTTTGAAAAAT TTCAAACCTACAGAAAAGTTGAAAAAAGTATATGATTAACATTCATATAC TTCTTTTAGCCAATTAAGCAATCAAACAATTGTTAACAATTATTGAACAA TTATTAACATTTTACAATACTTGCCTATCACCAAATGTGTATATAGGTAT ATAATACCTATATACATACTTATAATATATATATACATTAATGCAGTACA AATGTACATATATATTACATGTCCATATGGATATTATACAAATGACACAT ATACACATAAATATATACTTACAATACATGTATACATACAGTTAATACCT ATATACATAGATACATTTTTTAATAATCAAAACATCTAAATAGGGCACTG GCTTGTTATTAGCAGTTCCACCAACCTGAACTACTTTAATTGTAAATTAC TGATGGGCTCACAGCAATAACAGAACATTAAGATGCTGTTAGGCATAAAT GATGCAGAAAATAGGGATTCCAAGCATCTAAACAATATTTATTTATTAAA TACACAAATATGAAAAAAATTTACTGAGAAATTGCTATCTTGCTATGCAC TAAGCTAGTGTCAAAGAAAACCAGAGCAGGACAAAAGTTAAAGTGCTAAA TACAAAGTTGATTCAGGACTATTGCCATAGGGGCAGAAAAACCCCAGTGT AGAGCTTCATTTCAAATGCAGCAGGGAAAAGGGAGGTCTTGTAGCCAAAG AAGCAGGGGGTGGCCAGCGAATGAAAAATTATTAAGAAGAGACATCAAAT CTAGGGGGAATTCTGGTTGAACCAATCGAAAAGGATTTATTTATTCTTTT ATTTATTTATATTTGAGATAAATAAATCACATTGTCACCCATGCTGGAGT GCAGTGGTATGATCATAGCCCACTGAATCCATAGCACCTGAATCCTAACA GGATTTTTGCTGAAGGCAAGCCAGAGTATTCAGATACCAAGAATGGGAAG GGAAGAATTTTGATCAGATATAGAAGGTCATCAGGTATTGAGGATGGGAG GATTCTTGCTAGATTGTCTTTCTGCATTATTTACTAGAACTAGATTTTAC AAGAAAGTACACAAGTCAGCCAAAGAGAAGGTTCAGAAGCCTGACCGTAG TTTGTTCAAGGGAAAAAGAGGCATTCTTCCCTTAAGTTTATTTCTCCTCC AGTTTGCTCATTTATGACTAGCAAAACCATCTGCTTGTACCTGGTGCAGG TTGCTAATTGTATTGTGAGATCAATGAGACATTTAATGAGAGGGATACCC ATAAAGAAAAACAGAATGATAAATATTAGAGGCTGCTCTGCTGGGTTTTT TTTCTTCCAAGAAGGAAGCTTAGAAGCAGTGTTAGCACACCTCTCCCACT TGAAAGGACAGAATAGCATGTAGAGATTTATGCTGTGAACTTTTTTCAAG AAGCAACACAGGAACTTAACAAGAAAACTGAAAGAAGCACAGGCTGTTTG AAAGAAGTGGCAGGCTACAGCCTACACTGTGAAACAGCCAAAAAACTCTA AGTCCCCAAAGTGTGAGAAGGGGACAGACTGCATCCAGGATACACATCCC CATCAGGGAACGTGAAATCCAGGCCATGGGGGAAGGCCTTTACCCTACCC AGAGCTGGGACTGATTTAGGGAATAGTGAGAAATATAAAAGTAGAGGCAG TAGTGGAAAGCACCTTGCAGGCATTCCCAATCTCTAGCATGGACTGAGGG AAACCATTCATTCCTTATTATACCTCACAGGGACTCAGGGAAGTCAGCCA AGTAGCTCAGACAGTGGTCACAGTTTGAAAGAAGCCTCCAGTTGAATTTT GGGATATAATATTGAGTGGGAGCAAACTCCCTTGGCCAGAACCCAGGGGC AAGTGGGAAGTACACTGCAGCCATGAGTGCAGGAGCCAGGCTGCCAAGGC TGCCTGGAGCTTAGCTCAGTGCTGCTAGCAGAACACTTCAGGAGTGAGAA CAACTTTGCCAACTGTGTGGGATCTGGGTGAGGCTTACTGCCACCTGCTA CTCTTTACTCCCTGTGCAAACTCTCTTCTGTGCAACAGAGGCAGTTACAC TCCCCTCTGGAGCATTACCCCAGCAGCCTGATAAATGCCCTCTGACCCTC AGAGAAGCTGCAGCTTGCCACTCATGTGGAGAGTCAGAGCACAGCCCCAA CCTGGCTGTGCCCCTCCACCCTCCCTGGTAGTGTAACACAAATGACAGAA ACATTTAGGAGCTTTATGGCCCTGCCCATCACCTGAGAAACCAGAATATC TCCTCTGGGCAAAGCAGGGAAAGCTCAAATCCTGCTACTATTACAGGAGC AGGTACTCTTTGGCAAGTGCTACCTCCTGGCTGGAGGCCAGCCAACACAG TCCACTACAGCATCTCTAGATAGAATAAGAGTGTGCCCAGAAATAAGAAA ACTGGTATCTGACCTCAGCTACCACCACTGCCTGCAACACACTGGCTAAC CAGGAGGTCTGAGTCTGTCCACATGCCGAGTTCACTACCATCATAATCAA CATTCAAGAAAAACAACACACTAAGGCTATCTATAATCAAGGATTCTCAC AAAGTCTACATCACTCCCCTGCCACTCCCATCACAGCCAGTACTGGTACC AACTGCTGTGGTTTTGAGGAAAGGTAACATCACTAGAACCCTCACAGACT TTCCCCAGCACCAGCCTGGAGTATAGCAGCCCCACCGGGTGGTTAGACCC AGAAGAACAATCACTATAGTCTGGCTCTCAGGAACTCATACTCCTAGAGT ATGGGAGAGAGCACCTCATCAATGGAACACCCCATGGGACAAAACAATCC AGTTCTTCTGGGTGAATATCTGTCTCAAAATGCAACCATGTCAACATTTC CCTGGTCAGCTATTTTTTTTCTGTAATTCCATATATGTTCAACTAGTATG AAATCTGTGCATATTGGAACCACGCAATGCCAAGACTGCCTACACTTACT TTTGAACTGATTGTCTAGGTTCCTAATAAAGAAGTCTCTACCTACCATGA AGGACCCTGAAGCAAAGAAGACAAAATTCTCAACAGAATCAGGAGCATCT CTATAAAAATTCTATTGTTTCCTTAACTTGAGTTATTAAAATACCTGGGA CAAAAGAATCTGGATGGCAAGCCTTAAATCCCAGATTTTTCCACTGGTGG GAAGTTTCTTTCAGCAGAGACACAATTGCAGTGCTGGGCTCAGGAGGGAA ATTTTGCAGCTCTACTTTAACAGTCAGGCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0000 a0004c0004t0001g0000	1	470	0.0021	-3879	c.11 others(11): Show c.1122_*5000del	OR5K3	ENSG00000206536.1	transcript	ENST00000383695.1	protein_coding		1122		chr3	TogoVar
SCGN_chr6_25647215_25706783	25647220	AAGGCCAT others(3868): Show AAGGCCATAAATCAATCCTCAACAAAGTTCAAAAGATGGCTACTATAGAT CACATTCTCCACCTACAATGCAATTAGATTTAAAAATCAGTAACAAAGAA GTTACATAAATCATGTGTATTTAGGATTTAGGAACACTTTAACTCATGGT CCAAGGGAAATCACAGTGGGAATCAGAAGAAAATTATAATTAAGCAAAAC TCATAGGATGTCTCTTAAGCCTTACTTGGAGGGAAATTTATAGCTTTGAA ATGATTATATTTTAAAAAGCTGCAAATTAACAAGTTAAGTACATATATAT TTAAGTTAAAAAAGAAATGGTTATTAATGTATCAATATTTTGTGAACAAA ATTTACAAACTATTTGGGAAATAAATATAATAATGTCCTTATTCTGTGTA GACACCTAGATTTAGCTATGCCTACCATTTGTTTAGTAAGTACTATGTAT CAGACTTGGTGCTGAGATAAAACTTCTATATAATTTAGGAATGTAGACCC AGAAGGGGAAAAATAGGAAGAAAATAAATTTTAAAAGCTACACTATGCAT TTGTATTATTAAGTTTGTAAGAAGATGGCTGTATAAGTGGCTGGAAAAAT ATTTACAGTTTCAACTTACTTTAACAGACCTAGAGCTTTTAAAGCACTGG TTTTGTGCTTTAGTACAGGTTACAAAAATCTTCTTTCATAATTTAGTGAT ATCAACTCCTTAAGAAAAGATGGTATCATTGGGGTAATATAGAATACTAA ATAGTCACTGTTTGCAAGACACAGTGCCAGATGCTATGTTCTGTGGGGTA GGAAGGGGAGAGAGGACAAGAAATTTTGAAGAGCCACTTGAGTGTGATAG GCTTTTAACTTTAACACTTAGCCCACCTCTTAAAAAATCCCAAATTACCC CAAACAACCACCTATAAAATCACTATTAACTACTACTTTAAACTATTCAA AGATTTTTATTTTTATTGTTAGTAATGGTGTAAAAAGGTATCTCTTCCAC TGCTAATAGCAGTATAAATCAGTAAAATTCAGCTGGAGACCACTTTTAAC CTTATGTTATAAAGACTTACGATGTTATACATTGTTTAGCCCAGCACTTG TGCATTTAGAACTTTATCCCGAAGAAATAATTACTAGAGTGTGCAAACAT TTAGCTGTAACAGCAGAGGTTTATGATAGTGAAAACCTAGGGACAATTGA AAAGTCTAAAAAGAGGATATTAAATAAATTATGATAATACTGACATTAAA ATAATATCATAGAAGAATATTTAATGACATGCTTCATAATATTAAGTGAA ATGAGCAAGTTACAGAGCAGTATAATCTACTTTTTCTGCATATAAAAAAT TACTGTAAGGACATAAACCCATATGTTATTATTGCTAGTTATCTCTAGAT GTCAAAATTATGGAAGAAAGTTTTCTTTCTTGTTTTGTAGTTTTTCTAAT CTATATTGTTTAAATTATCTGTACTATTCATGTGATTGCAAAGGAAACAG TAAAATGTATATATTTTAAAAATAACTCTATTTCTAGTGTTTTCTTATTA TCTTATGAAAACCACTGTCCAATTTCTTTTGTTCTGCTTGCATGGCCCTT TGGAACTGGTGTGGCTTTAAACCAAGGCTGTCTCTTTGAATTCTAAGGTC TACTATACAGTCTGTGAGATGTCTACAGAGCTTGAATGTTCAACAACATA TGAAGATGAGTATTGTTTATATTTCCAGTTAGAAATATCATTCTGAGTTT GTAAAAAGATGCAGATATTTTAGCTTAAAATTGAATGGATGCATCAGAGT TAATTAGCAATGCTTCAAATTACAGACCACTGCCTCTTCTTGTGCAACTA ACCATCAATTAGCTATGCTAATGAGAAAAGCAGGAAATGATTGCAGGAGA AAATGAAATCAGTAGGGAAAAAAGAAAAACAACTGATTTTAGTCTCTAGT TTCAGCCATCAATTGTCAAAACTTACCAGGATTACATATAAGTATAAATT CTAACCTCTCTTTGAAAGAGGCAGTGTATTAATAAGAAAGTAATGTTAAT TCTTTAGAAGTTTTTTCTTTTCTCGATTATCCTTCAGAGATGCCATACCT AAATAATAAAATGACCAGAATATGAGCAGCAGGAAACTTATAGACAAAAG GTTCGTCAGTGGTTCTAGTGTAATCCCTAGGGGAACACTTAAAAAAATAT CAGCATAGAGGTCTTTCTCCAAACCATTTAAATCAGAATCTCTGTGGAAG GTGCTAATTAATCCATAAGATGCAAAATGTATTTCAACTTGATTCCAGCT GCTGAATATTTGCTTTACTCTGAGTTCTCTTTTTGGACAGGAAGGGACTC TGATAAACCACCTCTGGTTCTTTCATCCCCACCTCCATCACTCCATTTTT AGGCAGGAGAACTTTCCCAATGAGACAGTCTTACAGGTGTCTCCTGTAGG ATCTTTAAATACCTTCCTACTGGCTCTCTTCTCTGTTAAGGGCTTGGATG ATTTTCTCAAAGAGAAACTTTTATGAGGGAATGCAGGATTCCTAAGCAGT ATCTCCCTACCCAGTGCCATGATAAATATTTGGATGCAAAGAAAACAGGA AATAAGTCATTGAATGGAGATTGCAGCTCCCCAGAGAGCTCCAGATGACA GGCTCCTGGAAAGTGTTCCAAGTTCTGTTTGTTCTCCAGTCCTGAGAACA GTAATCTTTGCGGCTGTACTTTTCCTCTTCTTTCCCTAGATTTCACTTTT ACAACTTTAAAAAAGTATAATAGCTTGCATTATATGCTTACTGCACAAAG TTTTAAGACAAAAGAATTACAAATAGCAAAATTGAAATCATCTGTGAGCC TCCCTCTTCCCCACTCCAGAGAAACATATCATTAATGTCATTAATGTATA TCTTCCATGTTTTCTATGTGTAGAAACATGTATTTTATTTTACAGAATTG AGTCATCATATATGTACACTTTTGTAACTTGCTTTTTAATCTTAACCTTA TGTTTTGAGTTTTCTGGATCATCAAGCTTCAAAATCAAGATTTCTGTGTA TGCAGCAAAGCCCATCATAGATATTTACTATCATTTATTTAACCATCCCT CCACATTAGATCTTGATTATTACTTCTGAAATCTGCCTTGTTTTATCTTT TTCCACTATTTATCAGAAAACAAGATCAGCCCTGGTGGGTTCATACCAAT TACTTTTCCTAACTGGTGCTTGACATTGTATCCACTAATTTCCTAAAGTC ACAGATGATAATTACAGATACTGAACCCTTACACCCTCCTATGCTACATA TGCTTTTCTCCAATTTTTGTAACCAGCACTTGCTTAATCGGTGATAATAC TGCTTTTCTTCCTTTAGGCTAAGCCACACTCCTCAAAAATCCTGAAGTTT ACTTCACCGTCTTCCAAATATGTATGTATGTATGGAAGATTCATCATTTT AGTAGCTAACTTACACTGAATGTTACTGTATATACTGTGACAATAGGTTT ATATGATTTTTTAATTTGACCTTTATGATAATAACACGGGGTAAATACTA CTATTATTCCCATTTTACAAAGAAAGTGAGGCTTCTTTTGAGTAACTTGC CCAATATCACACACAACTAGTAAGAGGCAAAGCTGGGCCCTGAACCCAGA ACTGTTTTCTTCTGAACCATTTTTTTCATTATTATTAACTAAAGTCCGTG TTTATTAAAATTTTCTTAATTTTTACCTAATGGCCTTTTTCTGTTCCGGC ATCACACCCAGGATAAAACATTACATTTCTTTGTCATTTTTCATTAGGTT CCTCTTGGCTATGACAATCTCTTAGACTTTACTTGTTTTCTCTAACAGAG TCATCCCTCATCAGCTACAACACCAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0242	1	366	0.0027	-3875	c.-51 others(11): Show c.-5183_-1309del	SCGN	ENSG00000079689.15	transcript	ENST00000377961.3	protein_coding		4994		chr6	TogoVar
PAPPA_chr9_116148791_116407321	116254679	AGCTGAGG others(3867): Show AGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAG CCAAGACTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAGAGAGAAAGAAAGACACTGAAAGGAT CCTGACCAAAACGTTCCTGGTAGCTGTCTCAGGATAATGGAATTTGAGAT TATTCTACTTTAATTCTTTCATATAGCCTTCTAATTTGCTATAATAAGCA TGGATGATTTTTATTTTGGGGAGAAAAAAGCAATTGAGATTATATACTGT CACTTCCCAGTCTTTTTTTAAAAGTCAGCTTCCATTCTAAAGATATGTTT GCGTTGAAACGATTGTTCTCTACCTTTCTACATTTAAAAAATATATAATA TAATATACTCTGAGTTTCACCTTCCTAAAATACTTTAGAACCATAAAGGG AAGCTTGTTTTATCTTCAAATAGTTTTTGTGGTCTGTATTTTACTGGATA TTACTATATGGCTCACTAGGGTGTGCCCATCCAAAAAGTCAGCTCAATGT CTTGGAAAGATAAAGGGTTCTAGAGTCAAACAGCATGGTTTAAATCTTGT TTTATAATTGTTACATCTCTGACATTGAGCAGATGACTGAACTACATTGA ATCGCAACTAAAAAATTCAAATAATTTCTGCCTTTCAGGTTTATATTAGA AATAGTATGGAAAATTTGGTAAAGTAACTAAACTAAAAACTTTTCCAATA TGAGCATCCATTGGATATTCTAGATAAAATATTACAGATATAACTAGCAT CCTTTAAAATGCCTGATTGAGATTAGAAAAACAGAAAAGGATATTTCCAG GGGCAAGACATGCAAGAAATAAAATAGAACTGGGAACTAAACAGGTAAAC CCTGGATCTAAATTTGTGGTTGGTATAGTTTGGATAAGGGAGAGCCATCA GTTTTGGCAATTGAGTGGCTTGAATATTCTTGTTCACCCCAGGAGAGATG TGGCTTTGCAACTCTGCAAGGTAGTGTATTGGGACTAACACTTTTAAAAT AAGGATTTTAAATGAGATTTTCAGGACCCCTGAAACGACCCCTGAAAATC TACATGTTTGGTGAAAGGGTGTACTAGGGAAAAAATATGTATATGCATAT GTCTAGCTACCTACCTTAATACCATGATAATTAACATGATTTGATTTAAC TGTCATCTTACTATCTTTGCCTAGGATCTAAGTGGAAATTTATAACCATT GTCTTATACCTCAAAAGACTTGATGTTTGAATTTATACTGCTCAGTATGG TGTGAAAATGCCTGAGCTGAAAAATTAAGTGAAAAAAAAAAAAAGATTCC AGGTTAGTGATGTTGCAGGGATACCTAGAAATTAACGTAAAATCGCTCTG AGGGAGGACATGGACTTGACCCAGGGAGCACATGATTCCCACAGATTAAA ACCCACTGAATCTGAAAATTAAAAACATGAAAAAAGTAAACAAGGCATCA AAATAAGGGTCAGTAAACAACCTAAGGGCTTTTTACTAAATTTTGACTTT GGTGAGAAGTATACAAATTAGTATTTTAGAATAAACAGAATGCAATAACA ACAAAAAATAAATAAAACTAGAAAGTACAATTTTCACAGTTAAGATGAAC AAAGAAGAGACAAATAATGGAAATTTAAAAATTCGATAAATCCAAGTGAA GGGAAGAAAGGAGGAAAGGAATAAATAAGCAAGGAAAAAATGGAAACATA AGTCATTATACTAATCAGATTAAAGCCAATTGGATGAAGATAGAGCTTCT CTAGTCAGATTTAACTCAAGAGTTTTGCTGAAAGGTTAAAGGTAAAGGTG GGGACAATATTTACCAGGTAAATGCTAACTAAATAAATTAATATAGTTTT CAGACTAAGGAAACATTTGGCAAATATGTTACTGTGATTTAAAAAAAGAA GTCACCACATAATGATAAAAGGAAGATATTATGATTTACAACCTGAATTT ATGAAATAATATGACCTGAAAATATATAAGTCAATGACTTTTACCTAAAA AAAGATAAATGCATGACATTGTGATATTTTAACACATTTTTCTCAATAAT TTATAGATCAAGCAAACTAAAATATAGTAATAATCTAGAAGATCTTGAAC AACACAAAAAAGTTTGAGCTGATAAAAATGTATAGAACCCTGATACAGAA CTAAATTATGAATATTTCCTTCTTGAATAGAGATGTAGACTATTTTTTAA AGTTTTTTTTTTACCATGTACTAGGCCACAAAACAAATTTAAACAAATAT CAAAGTATCAGTATCAGATAGAACATAAGCTCTGTCCACAATGCAGCACA TTAACAAACAAAACACAAATAAACAAATGAAAAAGGTAAAACTTTTCAAT CAATGGAATTTCTAACAAGCGAAAATCTTATATATTTGCCAACAGAATTC AGCAATGTATTAAAAACCACATATAATGTTAAAGAGGTGACTTTAATATT AGGTGGTCTATTAATGTAATTCACAATATTTGTGAATTAAATAATTTTTA AAACAGGAATTTTTACTAGATGTAGTTTTTAAAACCCTGTAAAATCAGAT TCCTTCATGATGAAAAAATTATAGTAAACTGGGAATAAGTACAATGTAAA AAGTTTTTTGATCACAGGGTCATCTTCAGAATGCCCAGTTTTGCCATTGG TCTCCTACCTAGCGCAGCTGGACAAAAAATAAAAACAAAAGGCTGGGCAC GGTGGCTCAAGCCTGTAATCCCAGTGCTTTGGGAGGCCAAGGCGGGTGGA TCATGAGGTCAGGAGATCGAGACCATCCTGGCTAGAGACGGTGAAACCCC GTCTCTATTAAAAATACAAAAAAATTAGTGGGGCATGGTGGCGGGCGCCT GTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCA GACGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGG GCGACAGAGCGAGACTCCGTCTCAAAAAACAAAAAAAGTCTGAGGATTGA AAAGGAAACGACAAAACTAACATTATTCTTCATCTACTGGAAACAATATA GAAAAATTACTAAGAATCAACAATTACTAGAACAAATAAAACAGTCTATG AGGACTTCTAAATATAATATAAATTTATATAAAACTCAATTATTTTTATT ATCCCCAAACTATTAGAATACAAATAAACCTACACGTAATTATGTGTATG TGTGTGTGTGTGTAAATAGCTAGATAAAAAGCTACTATTTACTGTAGGAC TGACACCTATAAAATGCTTAGAGTAAGGCATATATTGCTAATAAAAAATC ATCACCATTTTTATAATGAAAGCTTTAAAACTTTACTGAAACTATAAAAG AAGACCTAAATAAGTAAAAAGATAAACTGTGTGCATAAATGGGGGAAGAC ACAGTATCATAAAAATGCCCTTTCTCCTCAAATACACTGATACATTCAAT GAAATTGGAATCAAAATCCCAACAGGCATTTGTAAGGAGAAAGCTTCACA TGGAATTTCACATGGAAGAGCAAGGGGCCCTTTTGAAAAGGAAAACTATA GAATGAACTTATAATGTAAATCAAGACTTTTATGTTGCTGTGGAAATCGC TATAGACTGCTACCGATAAAACAGTAGATAAAAAATAGACCAATGAGGCT GGGTGGCATGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCA GGCAGATCGCCTGAGGTTGGGAGTTTGATACCAGCCTGACGAACATGGAG AAACCCTGTCTCTATTAAAAATACAAAATTAGCCAGGCGTGGTGGCGCAT GCCTGTAATCCCAGCTACTGGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA19011.hp1 NA19064.hp2 others(1): Show HG00609.hp1 NA19011.hp1 NA19064.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0007 a0001c0002t0022 a0001c0001t0003 a0001c0002t0007 a0001c0002t0022	a0001c0001t0003g0043 a0001c0001t0003g0118 a0001c0002t0007g0059 others(1): Show a0001c0001t0003g0043 a0001c0001t0003g0118 a0001c0002t0007g0059 a0001c0002t0022g0121	4	232	0.0172	-3874	c.273 others(20): Show c.2733-11161_2733-7288del	PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAJC24_chr11_31364860_31437835	31372226	GTAATTCT others(3866): Show GTAATTCTATACCGACGTCCGGTTAACTCAGTTTATAAAGAGTAAAGAAC CATTATTTATATAGAATTTGTTGTCTCTTTAGTTTATACCAGTTACATCA GTGTTGTTTTGCCAAAACTATTAATGTTCATTGTGAGAGACTAACTGTTT CATCATCAGGATTGTACTAATATTCTTACTTTAGGTAGTATGTTGGACTA AATGACCTTAAGGTACCTTTTGCCCCAGAAGTTTTAAAGTTTCTGTCAGC AGAATCAAGTAGACTTTATTGAAAAATATCCTAATATTAAACCATCCTTG TACCTCACTCAGTTAATTGGGAAATGAACCTGGAAAAGTAGACTGGATCA TTCTGGTTCTTGTAGGCCATGCTGGCCTTTAATTGGCCACTGAGAAGCAG TCTGCACATAATATGTAGTATCTGTCAAACAGCAAAGTAGGTAAATCATT TCACATATGCGCTAACAATGTATCAGAGAATTCTGGTTGCTCTACAGCTT TGCCAATATTTGATGTTATTGGTCTCTTTCATTTTGGCTATTGGAGTTTT TGCAATTTTGCCACCATTGACATTTTGGGCAGGATAATTCTTTGTTATTT CGGCTGTCCTGTGCTTTGTAAGATGTGTGGCAGGATCCTAGATGCCAGTA ACAACCAAAAATGCCGCCTGCATGTCAAAATTGCCACATCCCATGAGAAT CACTGGACTACTCTACAGTGTCTGGTCATACCCCATTGTGGGGTTGTTGC TTTTTTAAAATTTATCTGATGACTAATGATGTTGAGCCCTTTTTAATGTG ATAATTGGCCATTTGTATAATTTTCTTTTATGAAGTGTTTTTTTTTAAAT TAAATATATTCTTGATTCTGTATATATGTTGTATATATTTTCTCCTAGTC TGTGATTTACCAGGTCATTTTCTTAATGGTGTCTTTTGATGCAGAGTTTT TTGTTTTGACAAAATATAATTTATCAAATGTGTGTTTTTATAGTTAATAC TTTCCATCTTCTCTAAGGTTATGAGAATATTCTTCGATGTTTTCTTCTAG AAGTGGTCATTTGCTTTTACCTTTAGACTTATGATTTCTGTGTATAGCAT GAGATGTGAGGTCATGTTTTTATTTTTCCTCAGTATATTCAGTTGTGCCA GCATCATTTGTTGAAAATTTTTTTCTCCATTGGACTGTCTTGGCAATATG AGTCTATTACTGGACTCTATTCTGTTTTATATGTTGTTTATCCTTTTACT AATACCTCCATCTTGATTACTGTAGATTTATAATCAGTCTCAAAGTCATT GTAAAGTTAGTTCTCTAATATTATCCTTCTTTTCCAGTTTATTTCGGTTA TTCTAGTTTGCTTATATTTCCACAGAAATTTTAGAATCAGCTTGTAAATG TCTACCAAAAAAATCTTGCTTGAGTTTTCAACTGGGATTGCAATAATAGG TATCCACTTTGGTAGAATGGCATCTTAATAATATTGAGTCTTTGAATCTA TGAACATGTATCCTTCTCCTTACTTAAGCCATCTTTCATTTCTCTCGTCA GTGTTTTATAATTTTCAGTGTAGAGGTCTCACATATCTTTTCTTGAATTT ATTTCTAGGTATTTGGTTTTTGGTTCCATTATAAATGGTATTTTAAAAAA TAATTCATTTTTCACTTGTTGATTGATAGTATATAAAATTATAGCTTATT TTTATATACTGGTCTCTTATCCTACAATCTAGGTAAATTTGCTTTTTAAT TTTCATAGCTATTTTTGTCAATTTCTTAGAATTTTCTGCCAACACAATTA TGTCATTTGCAGATAACGAGAGTTTTAATTCTGTCTTACCAATCTGTATG TCTTGTATTTCCTTTTCTTACGTTAAGGCACTAGCTGGTTGCTTCTATTA AAATGTTCAGTTGAAGTGTTAAGAGCAGGTATCCTTGCCTTGTTCCTGAT TTTAAGAGGAAAACCTTCAATGTTTTACCAGTAAGTATGCTGTTAGGTGT ATGTTTTTAAAGATGCCCTTTATCAGCTTGGGGAAATTCTTCCAATTAAT ACTTTGCTAAGAGTTTTTATGGTAAGTAGGTATTTAAATTTGTTAGATCC TTTTTTTTTTTGCATTTATTGAATTTTTGCATTTATTGATTTTTCTCATT TAATTTGTTAATGTGGTGAATCACGTAGATTTTTCTTAAGTTAAACCCAC TTCTCATCCCTAGGATAAACAAACCACTTATCATGAAGCATTATTATATT TATACATTGAGGGATTCTAGTTGCTATTATTTTGTCATGGATTTTTATGT TTAATTTCATGCTGTATATTTGTCTGTAATTTTCTTTTCTCGTAATGTTT ATGTCTAAATTTAGTATCATAGTTATGCTAGCCCCATAAAATGAATTGTG ATTTCTGGCTTTATAGTGAGGAAGAGAGGTGGAGGGCTAACCATTTTTTT AGTCTTAACCAGTCTTTCTCTTGTTTAGTTTTGCCCCTCAACTCCACTCT CAAAGGTACTTAATGCCTTCCGTTCCTCAATTTCTCCTGCCTCTGTGTGA ATGAACTCACTTCTTTGTCTCTTTCACTTTAGACTTAGGTTTCAGTTTTT GCAGGTACACTGAATTTGTTATCATTTATTGATGAATTTTCCATCTCTTC AAATTTTGGTGTCTTTTGCCTGTCTTTTCTCTCCTGTTCTTTTGCCTGTT TTTTTCTCTTCTCTCCTGTTTGTTCTTACACATTTATGCCTTTTTTTAAA AAATTATTATTCCTTTTCTGTTACTATCAAGGAATTTTCAGAGGGATGAA AGTGTGAGCCAGTTGCTGTGGTTCACACTTGTAATCTTAGCTACTTGTGA GGCTGAAGCAGGAGGATTGCTTGAGCCCAGGAGTTCAAGGCTACAGTGAG ATATGATTGTGTCACTGCACGCCAGCCTGGGCGACAGAGCAAGACCCTCT CTCTAATTAATTTGCCATTTAGTGGAAGCCCTGAACTATTTTCTTTTCCC TTTAGAGGCCAGATACCCTTCTGTGGCCATATGCCTTTGCACTTGCACTC TGCCCATCCACTACCTCACCTGATTCTCACTCACTGTTTCAAAATGATCT TAGTTGTAATCGTGCCTCCCCAGCTCCCTGCCATGTCTTTAGTACATTTC ATGATATTTCTCTAAGACAGGGGAGGTATAGCTGTTAGATAAGGAGAATG AGGGTAGGTGGACTGTAATAAAAGGTTGAAATTTTTTCTTCTGCTTTTCT TTTAGAAGATGAGAGAGACTTGAACATGTTTACACTGTATGGGAAGTGGC CACGGAAAAGCTTGAGATTGAAGTTATAGGAGAGTTTGAATAATTAACAA AAGCAGAGAGGAATAGGATCTGAATCATAGGTAGAAGGATTAGCTTTAGG TAAGAGATAGGAGGGACCTGTCTTCATTGTTACAGGAAGGAAGGAAGGAA GAAAAGATAGTTGCAATAGCCGGTTTATTTGTAGGTTTGGTAGCGGAAAG TTGATGAGCTCTCATTTGGTACCTTCTTTTTATTCTCTGTGAAGTAGAAG ACAAAGTTATCTGTTGAGAAGGGTGAGAGATGAAGTGAAGCAGCAAATTA CAGGAGAGAGAATTTCAACTAGCATTATTCTGGGAAGGCTCCTTGTAGAT AGCTATGTATACTATGGGAGCAAGAAGTCTCAGCTAACAACCTGGCAGCA GGCAACAAGAGACAATACATCTGATATAATTTGGCTGTGTCCCCACCTAA ATCTCATCTTGAATTGTAGCTCTCATAGTTCCCATGTGTTGTGGGAGGGA CCCAGTGGGAGATAATTGAATCATGGGGTGGCGAGGAGGGGGTTCCCCCA TATTGTTCTCCTCATGGTAGTGAA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00738.hp1 others(55): Show HG00280.hp1 HG00639.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01943.hp1 HG01993.hp1 HG02055.hp2 HG02273.hp1 HG02300.hp2 HG02486.hp2 HG02683.hp2 HG02735.hp1 HG02738.hp2 HG03017.hp2 HG03139.hp2 HG03239.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 NA18944.hp2 NA18970.hp2 NA18971.hp2 NA18980.hp1 NA18989.hp2 NA19004.hp2 NA19054.hp2 NA19068.hp2 NA19072.hp1 NA19089.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0014 others(49): Show a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0004g0013 a0001c0001t0004g0059 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0004g0072 a0001c0001t0007g0056 a0001c0001t0007g0061 a0001c0003t0001g0052	58	352	0.1648	-3873	c.111 others(17): Show c.111+1371_111+5243del	DNAJC24	ENSG00000170946.15	transcript	ENST00000465995.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
RALGPS2_chr1_178720244_178926840	178922967	ATTGTGTG others(3866): Show ATTGTGTGTAGGAATGCCATTGGTCTTTATGTTGATTCTTATATCTAGCA ACCTTGTTGAACTCCCTTACCTAGTTATAATGGTTTGTCCAAAGATCTGT TGGAATTATATTAGTGGCAAATAAGAATAGTTGTTTCTTCCTTTCCAATC TTTGTACCTTTTTTTTCTTGTCTTATCCTTATTTGGCTAGGACTCCAGTA CAATATTGGATTAGAAGCAGTGGTACAATGCCAAAGAACTTAATTATCCA GTCTCCTCAGAAAACCTCAGAATATAACACAGCCCTAGAATGAACCCTAA GCATGTTATAGTGTAGCCCAAGTATAATCTTTATTGTATTTGTAGGCCAA CTAATCATCAACTTAAATTTCTCCTTTTTCTTGTAAAGTATGTTTATACT GTTAGGCAGAAAATAAGTGGCATTTGCTCTCAGCCACCACTTATCAGTCA AAACTAAGTAAAATGGTGGGTCACAGGGATACTGCAAAATTTAGAGTATC CACGTGTAATTAATTTTCTTATTCTATGTCACTGATTCTCAACTGGAAGC GATTTTGTCCCCAGGAGATATTGTCAGTGTCTACAGACATTTTTGGTTGT CACAACTGGGAGAGGGTTCTTCTGGCATCTAGTAGGTAGAGAGGTAAGGG ATGCTGCTAAACATCCTATGGTGTACAGGCCAGCCCCCCAACAAAGAATT ATCTGTTCCAGAATGTCAATAATGCCAAGGTTGTGAAATCCTGCTCTATG TGAGTGACTTATTGTATCTCATAAGTTGAATATATTGAGCTTGGTTGTAG GAAAGAATTCGGTTTATGTTTGGCAAGGGACTTTAACTTTTCCCTGGAAG TTAACCTTTCTTACAGAAGTTTAACCTACTGGCCAGAGGAGATAAATTAA TAGCATGGGAATATATTCATGGCCTGGACCATAATGTGTTATTCTTCAAG TATTTGTTGAGCTAAAAGCTACATGTTTCAACCTAAAGTAGATTTGTGGG GACATTCTAAATGAGTGCAGACCTACAGAAATGTTTGTCTACCTCTGTAT GGTTATTCCAAGTCTGAAAAGATAACCCCAATAGCAGTAGGACAAAATAG GTTATCAATATGTCAGGCTGGATTATTTATTTAATCTGAGCTTTAATAAA ACCAGAAGCTATTTACTTTTTGTTCTTATGATAGTGTTATATCCACATTA TAAAAAGTTCAATTAAAGAAAACTATACAGTAAAAAATGCATGCCCGACC TATCAAATTCCCATCTCCAAATTTAATAAAAACATCTATCTTTGACTAAA TTCCTGTAATGCTAGCCTAGTTTCTTTCAGTCTCAGGCTCTGAAGAATGA TTTTTCACCTCCCTCAAACCTTTGCCCAATCTAAGACCCTTACATATACT CTAGTACTGTCAGAGCTAAAAGCATAAAAAGTATCGTCCTTACTCCACAT AGACTTGTGATGCATTGGTTACATTATTTTTTATTTGGTCGAATTAGCTG TAAAAATGATTATAAGAGAGTACTTTGAACAAATATATGCCAACAAATTG AATAACCTAGAAAATGGACAAATTTCTGGAAACTCGAAACCTACCAACAC AAAATCACAAAGAACATCTGAACAGACCTATAACTAGTAAGGAGCTTATA GATCAGTAATCAGAAACCTCCCAAAAAAGAAAGACCGTGAACCTGATGGC TTCACTGGTGAATGATAAAACATTAAAGACAAATTAATACCAATCCTTCT AAAATTTTTCCAAAAAATTAAAGCTGAGGGAACACTTCCTAATTTATTCT GTGAGGCTAGGATTATCCTGATACCAAAGTCAGACATAGACACTACAAGA AAACCACAGATCAATATCTATTATGAGCAATTTATGCAGAAATCCTCAAC AAAACACTATAATTTTAATTTCAGCAGCGTATTACAAGGATTATATAACA TGACTGAGTGGGATTTATTCCTGAAATGCAAGGATGGTTCAACATGAAAA TCAATGTAATATACCATATTAACAGAATGAAGGAAAAAAATCTCGGTGCA GAAAAAGTATTTGACAAAATTCAACACCCTTTCATGATTAAAAAAATGAT AATAACAAACTAATAGACTCTACCTCAACATAAAAGCCATATATGGAAAA GCCATATATGGAAAACCCACAGCAAATACACTGAATGGTGAAAGACTGAA AGCTTTTCCTCTGAGATCAGGAACAAAGCAAGAATGTACACTTTCACCAC TTCTATTGAACATAGTACTGGAAATTCTAGTCAGAATTGGAAAGATAAAA TTATCTCTGTTCACAGATGATATGATTGTATATGTAGAAAACCCTAAAGA TTACACACACACACTATTAGAACAAGTAAATGAATCCAGCAAAGTAGCGG GATACAAAGTCAACATAAAAGTCACATTTCTGTATACTAACAATGAGCAA TCTGAAAATTACAAAATTCCATTTACTAAAGCATCAAAAAGAATAAAATA GGAACTAACTTAACCAAGGAGGTAAAATATTTGTGCAATGAAAACTATAA AACGTTGCTGAAAAAAATTAAAGGCAAATAAATGGAAACATATCACCTGC TCCTGGATTGAAAGACAATATCGTTAAGATGTCAGTACTACTCAAATCAA TATATAGATTCAATACAATCCCTATTGTAGTGTTTTTTACAGAAATAGAA AACCCCATTCAAAAATTCATATGGAATCTCAAGGGACCCCTAATAACCAA AACATCTTGAAAAAGAACAAAGCTAGAAGACTTATTTCCTGATTTCAAAA CTTACTACAAAGCTACAGTAATCAAAGTACTGTGGTACTTGCGTAAAAAC ATAAACCTACGGGATAGAGAGCCCAGAAATAAACCCTCGCATATATGGTC AAATGATTTTTGACAGGGTGCCAAGACACCCATAAGGAAAGGAGTCTTTT CAGATGGCGCTGGGGAACTGTATCTCCACATGCAAAAGAATGAAGTTGTA TCCTTACCTAACACTGTATACAAAAATTAACTCAAAATGAATCAAAGACC TTAATGTAAGACCTAAGCCTGTAAGTCTTACTGAAGATAACATAGGGCAA AAGCTTCACATCGTTGAATTTGGCAGTGACTTTATAGGTATGACACTAAA GGCACAGGCAACAAAGGGAAAAACAGATTGGACTTAATGAAAATTTAAGA TGTGTGTCATAGACAATATAAACAGAAAGCAACCCACAGAATGGGAGAAA GCATATGCAAATTATCTAGCTGATAAGGGATTAATATCCAGAATGTATAG AGAACTGAAACTCAGCAACAGAAATAATTCAGAAATGGGCAAAGAACTTG AATACACATTTCTCTGAAGAAGATTGCCAATAAATACATTTTTTAGAATG CTTAATATCAGGACTAATTAGGGAAATGCAAATCAAGGGTACAGTGAGAT ACCACATCCCACCCAATGGGATGGCTACTATCAAAAAATAAATAACAAGT GTTTGGTGAGGATGTGGAGAAATTTAAAGACCTGATTGGATTGTTAAAGC TACAAAGACAGTAAAAGGAAATCTCTGAACCTGGATGGGAAAGAACTTAA ATCCCTCAAAGCCCTTCTGTAAATACAAAAAACAGGGTTTCTGTTCAATG GACAAGACAAAGTTAACAGACTGGTGAAAATTTGGAAGAAAACTTTTGGA GTTTATAAGAGCAAAAGATTAATGTCAAGAAGATAACAGGACATTTTTGC AAAATAAAATGAGAAAACTGAGCTAACGGATATGAATAGACAATTTATAA AGGGAAATCTAAATCATGAAAAAATGCTCAACCTCACTAGTAGAGAAGTG CAAGGTGAGAGCTGTCATGTTCTA	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0129 a0001c0002t0005g0129	1	304	0.0033	-3873	c.66 others(12): Show c.6609_*10481del	RALGPS2	ENSG00000116191.19	transcript	ENST00000367635.8	protein_coding		1128		chr1	TogoVar
FOXM1_chr12_2852680_2882174	2878302	GATCTGAT others(3865): Show GATCTGATGCCTTTTACAAAGAAAGGAGGGAACTCCTCTAAGCAGAGGGA ATCAGGCGTGCAAAGGCTGGATGGCAGGAGGAAGCACAGTGAGTACAAAG GCTGAGAAATATCTGAGGGGTTTGAGCTAATCGACCTGAATGGAGTGTGG TGTGAGTTGAAGCTGGAGCCGGAGGAAGCAGAGCCTTAGCCATACCGAGA AGTTTTGTGCTTATCCAAGAATTAAAGGAAACCAGTCATAAGCTTTAAGC AGAAGTGAATCCAGGTCAGATTTGCATTTTAAAAGGTCCCTCTATAGCGG GGATTGCTAGAGTGGATTAGGGCAGAACAGTTGGATGTTGCAATACTCCA GGCAAGAACTGCTGGAGCTTGAAAAAGGGTGGCAGGGAGAGAGAGAGAGG AAGAGAAAGAAGGAGACAGAGAGAGTAAAAAAGGGGCATTAAGAAAACAT GTTTAAGAGGTAAAGTTGACAGGGCTTGATGGTGGGTTGGATGGGAGGTA GAAGTGTCAAGATTTTCAGCTGCATAACTGAAGGAATAATGACACTATTC CCTGACCAAGGGCCCTGGAAGATAATCACTTTGGCCAAGGGACGGGCGGG GGGTTGTCAGGGGAATGATCGTGAATTCAGTTTTTGTTTTTTTACTACAA AGCAATGCTCAGAATGAGTTTTTTTTTTAATTATATATTTATTTTTATTT ATCTTTTTATTTTTTAGAGACAGGGTCTTGCTCTGTCCCCCAGGCTGAAG TCCAGTGGCATGACCTTGGCTCACTACAACCTCAACCTCCTGGGCTCAGG TGATCCTCCCACCTCAGCCTCCTGAATGGCTGGGACCCCCTACAGGCACA TGCCACTACACCCATCTAATTTTTGTATCTTTTGTAGAGACAGGGTCTCA CTCTGTTGCCCAGATTGATCTTGAACTATTCGGTTCAAGTGATCCTCCCA CCTTCACCTTTCACAGTGTTGGCATTACAGGCATGAGCCACTGTGCGCGG CCAAGTTCAGTTTTAAACTTGTTGAATTTTTTTTTCTTTTCTTTTTTTGA AACAAGGTTCTGGCTCTGTCACTCAGGCTGGAGTTCAGTGGCACGATCTC GGCTCACTGCAGCCTCCACCTCCTGGGCTCAAGTGATCTGCCCACCTCAG CCTCCTGAGTAGCTGGGACTACAGGTGCACGCAGCCGTGCCCACCTGATT TTTTGTATTTTTTGTAGAATTTGGGTTTCACTGTGTTGCCCAGGCTGGTC TCAAACTCATGAGCTCAAGCGATCTGCCCACCCCGGCCTCTGAAAGTGCT GGGATTACAGGCGTGAGCCACTGCGCTCAGCCTTACACATGTTGAATTTG AGGTGCGTTTGAAATATCTAGTTGCTGTTCAGGTAGGTAATGGGATATTT GGGTCCCAAACTTAAGGAATTCTAAAATATATAAATATTGAAGTCATCTA CTTCTAGGTGGATACTGAAATACAGGCAGATGAGTTTGCCTAAGAAAAGT ATATAGAGTGAGAACAGCTCCAAAGCACAACCAGAGGGGAAGGACTTAGA CAGCAGAATGAACTGACCTCTAATTAGAGCAGAAAGAAGATAGATGTTGA TACGCATAGGTTTGTATATTTGCTTTCTGGAAAATGAGAGTATTTCCTTT GATGTCTTCTGTATTCTTTGTCAAGTAGGAAGTAAAGTCATTTGTTAAGA GAAAAGGGGTGTTCTGAAGTTCTAAGAAAGTGGGCAGGGTGTGGTGATTC ACATGTAATCCTAGCACTTCAGGAGGCTGAGGGAGGAGAATCACTTGAGC CCAGGAGTTCAAGCAAGACCTCATCTCTACAAAAAATAAAATAAGAAACT AACCAGGTGTGGTGGTGCTTGTCTGTATTCCCAGCTATTCGGGAGGCTGA GGCAAGAGGATCTCTCGAGCCCAAGAGTTTGAGGCTGCAGTGAGCTATGA TCGTGTCACTGTACTCCAGCCTGGGCAACAGAACAGGACCCCATCTCTAA AAATAATTTTAAAAATTAAAATAAAAATGTTCAGGCTGGGCGTGGTGGCT CACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTG AGGTCAGGAGTTCAAGACCAGTCTGGCCAACGTGGTGAAACCCCATCTCT ACTAAAAAATACTATAATTAGCTGGGCGTGGTGAGGGCGCCTGTAATCCC AGCTACTTGGGAGAGTGAGGCAGGAGAATCGCTTGGACCTAGGAGGAGGT TGCAGTGAGCCGAGATCACGCTACTGCACTCCAGCCTGGGCAACAGAGTG AGACTTTGTCTCAAAACAAACAAACAAAATTTCCACTTTATTTATTTATT TTGAGATAGGGTCTGTCTGTCACCTAGGCTAGAGTGCAGTGGCACGATCA TAGCTCACCATATCTTCAAATTCCCAGGCTCAAGTGATCCTCCCACCTCA GCCTCCCAAGTAGCTGGGACTACAGGTACATGCCAACATGCCAAGCTAAT TATTCTTTTAAATTTGTAGTAGAGACGAGGTCTCTCTATGTTGCCCAGGC TGGTCTTGAACTCCTGGCCTCAAGCAGTCCTCCCATCTCAGCCTCCTAAA GTTCTGGGATTACAGGCGTGAGCTACTGCACCTAGCTTGGAGAAGTTTTA AGATAATCTTTGTGGAGAATGAGTTGATCAAGGAAACAGGATTGCTGAGC AACGTACCCATTTGAAGCTGATGACTTTCAGCAAGTCATGAATTTCAAAA CTATAGCCATTGCTACCACTGTTATCTTTTCACTGGATTTCTGTGGTAGC TTTTTGTTTGTTTGTTTTCTAGACTGAATCTCGCTCTGTTGCCCAGGCTG GAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTC AAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCAGGGATTATAGGTGTGT GCCATGACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAC CATGTTGGGCAGGCTGGTCTTGAACTCCTGACTTCAAGTAATCTGCCCGC CTCAGCTCCCTAAACTGCTGGTATTAAGGGCATGAGCCACTGCGCCCGGC CTCTCTATACTTTTTATTCCTTTCCGACTAGAATGTAAGCACCACAAGGG CAGAGGTTTTATGTTATTCTCTGGTATATATTTTCAGCACCTGGAACAGT GCCTAGCACACAGTAGGCACTCAGTAAATATTTCTCAAGTGAATGAATGA GTGAATGAACAAATGGATATATATATTTTTTGTGTTTTCTATAAGATGTT AGTTCCTTAAGAATAGAAACTTTGGCTGGACATGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTT CGAGACCAGCCTGGTCAACATAGCGAAACCCCGTCTCTACTAAAAATACA AAAATTAGCTAGGCATGGTGGCGTGCGCCTGTAGTCCCAGCAACTCATGA AGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTAGAGGTTGTGGTGAG CCAAGATCGCGCCACTGTACTCTAGCCTGCGTAACAGAGCAAGACTCCAT CAAAAAAAAAAAAAAGAAAGAAAAAAAGAGAAACTGTGTCCTTTTTTTTC TTAACCTGTATCTCTACTGCCTAGTCATATAAGTCAAAGCATATTATTTT TTGTTGTTGATTGAATGGATCACAAATGCATAGAACCAACCTGCTCTGTT GTGTCTTTCCAGCATGCTCAGCTGCAACTCTCATTTACCTCTCTACCTAT TGCATTCAACCTTGTGTCCCACCATTCCACCAAAGAAGCCCTTATTAAAG TTGATCTGGGCCAGGCGTGGTGG	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02723.hp1 HG02717.hp1 HG02723.hp1	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0001 a0003c0017t0001	a0003c0017t0001g0077 a0003c0017t0001g0078 a0003c0017t0001g0077 a0003c0017t0001g0078	2	436	0.0046	-3872	c.-53 others(11): Show c.-5302_-1431del	FOXM1	ENSG00000111206.13	transcript	ENST00000359843.8	protein_coding		1129		chr12	TogoVar
ASMT_chrX_1610059_1648081	1637215	ACATGAGG others(3860): Show ACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC AGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC CCTCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGG ACAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGATGGCACATGAGG ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC TGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT GTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCC TGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC ATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGAT GTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGT GAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTG TGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTG ATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCAT GTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGT GGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGA GATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTG TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGAT GGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGT CCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGG ACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGA TCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTG AGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGA TCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC CAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCA CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC CATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAG ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTT CACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGT GTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGC CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGA GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC CTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTC TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCAT CCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGA CAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGA TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT GTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG TGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCT GATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA TGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATG TGGGCACAGCCTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTGT GAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTG TATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATG GCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTC CCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGC ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT CCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGT GATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCA CATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCA GCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACAC AGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCA TCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGAT AGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCA TGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGT GTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGC CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACC CATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGG GGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGA GGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCT CCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCT CTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCT CCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGA CCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCATGAGG ACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGT GAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTG TGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTG ATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGT GTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTG GGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGA GGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTG TGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATG GCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTC CCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGA CACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGT CCATCCCTCCTGATGGTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01257.hp2 HG02155.hp2 others(4): Show HG00423.hp2 HG01257.hp2 HG02155.hp2 HG02165.hp2 NA18975.hp1 NA18981.hp1 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0003t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0049 a0001c0001t0001g0087 a0001c0001t0001g0109 others(4): Show a0001c0001t0001g0049 a0001c0001t0001g0087 a0001c0001t0001g0109 a0001c0003t0002g0172 a0002c0002t0001g0094 a0002c0002t0002g0095 a0002c0002t0002g0213	7	202	0.0347	-3867	c.910 others(16): Show c.910+669_911-1708del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ANKRD36_chr2_97108153_97269521	97147001	TTAAACCA others(3856): Show TTAAACCATCAAAATTTTAAAGGCAGATATCAGTTACCTGTGGCCACAAG ACCGTAAGTTTTTTGTAAGCAAGACTAGGCCAGTCCTAGAAAAATATTAT TTTACTGTGCATGGAGAATACCTAAATATAGACCATGTTATGACAACTAT ATTTAGCATATATTAAAATGATATTTCTAATTCATGTCTCTACTTACTCC CTACCCAGTTAGGTTTTCTCTTTAAGTGAGCACCCTGCCTAGTTTGCTGA AGCTTTTTCTTATTTTGTGGATTCTTCTTTTTTCCTTCTATGACATTTTA GTATTTTCTTGATTTCTTTTCACTTTCTCTACCACTTTTCTTAGGGTTTA AGATCTTCTTTTATAGTTTTCATGTATGGCAGCTAAATATTCCCCATTTT CCTATAGACACAATCAGAGGTGCATAAAATTTCAGAATGTTAAGAAATCC TAGAGACTAAACAAAGTATCCTCTAGTGCTTGAATCCTTGCTTAACATCC TGATCAAGTGGTTGTTCAGGTGGAGAACCTGAAACTCAAAGAGAGAAAAT TATTTGGATACAGTAAATCAGAGAAATGAGAATTGCACTCAGGTTTCTTA GTTCAAAACGCAGTCTTCTTTTACATCATTCTGTCATTGAGTGATTTTAG TTTTAGAAAGAGGGAGTGGCTCTAGTGAACACAGTGGAAGAGGATGAGAA TTGAATGAGCTGTTGAACCTAATGAAAGTGAATAAGAATGGAATTTGCAG GGGGCAGCCAAATTTGAAGAGAAACAAACTCTTAGTTTGATAGAAATGAG GATTTTAGGGAAAAATCTGAATATTTGGTTTAATGCAAGTTTGATAAAGA TAAGGGAAATGATAACACAGGATGTTGGGAGCTATCAAGAAAGGCATATT AGAATATGGCGTTCAAGGAGTTCTGAAGAGTTTGCTGCCTTTTTGTTTGT TTAACTGGAGGAACTAACAAACTTCAAGGTTTTATTGAAAAATGTTAAAA GAATTTGAGCCACTGGAAAGAGTCTCCAGAGGAGATAGGAATGTGGTATC ATCTTCTTCCATCCCAGCTTACAGAGGGCTTAGAATCCCTCAAGAACCAG GGAGCTGGAGATTGCTTAAGTACATAGATCTGTGATCCAGGGTGGATGTC TCTTTTTTTCTGACTCTTTTCTCAATTCTCTCATGTACATGTAGGGTGGG ACAAATGTAGGATTGGCCGGCAAACCAGCAATGAAGCTTCATTTGGGTAG TTGGTAACATGCGTATGCTTGGGGTGGATGACTGAGACTAACTTACTTTC CAGAAGCAGAGGAATAGAGAGCTCCTACTCTCAATTATGTTAGCCCATCT TTTGAGAAATCTGGGCTTTCCTAGGCTGAAGATGTAGATTGGAGATTGCC ACAGATCCCTGCAGAAGAGGGATCCAGAAGTGGGAGCCCATAGGAAGGAA GATATTTAGATAGGGATGAATGAAATGGAGCTATAAGTACTTAGGAGGGA GACTTTTCCAGCAGTCTCTCTCTTGGGTATCTGAGTGTCTATGAAGGTTC TTAAGCTTGCTGGTTTTTGTGGATCTGAATAAGGCAGAATCTATATAATG ACGATAATTGGATTTTAAAATTTTTAATGTTTTAATCTTCTGTGAAGAAT ATTCCCAATAACAATCTAACAACATATACATTTGTACTTTGACTTTTGTA CACTCAGCTTTCAAACATTTGCAGTGTTTCAGGGGGCTCCCTGTAGTGTT CTAGGGTGAAAAGAATCAATGGGCCCTCTTTAAGTAGCTTACATGCTGAA GATCCAAGACTCCCATTTTCCAGTGACACAGATTAGTCTTTGAATCAGAA ATAGATAATGGAGAAGAGACCGTGCCTTTTCTACCTTGTTTTAGGTTATC AGGTTTACTGCAGTTCAGTAACAAAAGTTGTGTCAGATATCAACTGGATT TTCAGTTTAGTCTTTAGGGTAGATAATTTATAAGGACAAATTATTGTCTG GCTGTGCCATTATAATGCCTGTCACTATTTGTTATGGGTTTAAGGGTGAG TCTGCATTGGATATTTCATAGGTTGGGAGAAGTGGCAGCAGAAATAGGTA ACTGAAATGTTTTCTAAAATGGAAGCCATATCTTAATTATACCAAGAAAT ATTATTTAACATGCAGATAACTGAGTTTCCTCAGACTTTGTTTTACCATT TTTTTGGAGTGGACATACGTGTATAGACTGACGGTTTTTGTTTTCTTTTA AGAAATGAATGAGCTCATTTTTGTAATATCTTTTTGCTCTGTAGGAGTCT CTACAGACCTGATGCTGTTGCACAGCCTGTGACAGAGAATGAGTTTTCTT TGGAATCTGAGGTAGAGTACTCTCTTGTGAAATTAATTTTCTCCCTCTGA ATCTCATTTTTTATATTATTTTCTTCTAAAACTTAGCAGTTGTCTACCTA TCATTGTTTTATGTTACTATTAAAACTTTTATTAGAGATAACCATTTTAA AGAAATGGGAGGGGTTAATTTTAATTTTTTTTACTTTGGCAAATAAGAAA TAGTTGATAAATACTTTGAGAGGTGTGATCTGAAAAAAAATTGCTGGAAA ATACACAGTGACAGAAAAATGATGTTCGGGAATGCTTTCCCACAGTAGAG GATATACAAATTTTGGTCTAGGCTTATTTGAGTGTTTTTACTTTGAGTTG TATATCATATGAGTATGACTAATAATACCTCTGTTTAAATGAATCTTTAA TACATCAGATGACTTATCAAAGAAATCATGGAATCACTCTGTTACACATA GCATATAGTTTCTTTTTATTTCTTGTGCACATATTTTGATATCATACTGT ATTTTTGCAGAGCTATTTCTTTATTTTTATTCCTGGCTCTGTAATTAGAC TAAAATAATATTAGAAATTGTGGAAATTTAACTAGACATGGTATCATGTG CCTGTAGTCCCACCTATTCAAGAGATCAAGTCAGGAGAATTTCTTGAGCC CAGGATTTTAAGACCAAGCTTGACAATATAACAAGTGCTTATCTCTAATT TTAAAAAGTTGTGGAATATTAGAAATTCAAATTCTGTTCTCAAATCTGTA TTAGAGAGGGTTTACACTGTGTTTTCCAAGCCTTTTTTATTTAGAGTATA CTTTAAACTCTTTATTTAATTGAAAAATATGCATTTTGTTTAAATAACCT GTTTGATAAACAGAGACTCTTCATATTTTATGGTCAGACTTTAATTTCAC AATGTTTTTGAATTGTAATTAAAAAGAATCCACTCAGGGTCTTTGTATGG CATTCTAAATTTCAAATTTCAGAGGCTTTTGTGCTTAGTTATTGAAAAAA TAATTGTAAAGCTCCTGCATTACTATGAGGCACTTGAAACTAGAAAACCT ATTTGTATGTGTCCTGGAATACACAGAATAAGGTCTTGCATGTAAGAAAC ACTTTAATAGTTTTTAATGTGAATCAACAAACAGGTAAATGGGCTTTCTC ATGATGGAATGTTACAGGTAACCTAATATGCATGACATATCTAATAATTA AATCTATTAAATGTCTTGAATGTTTTGAATTTATCTTTTTTTCTAATGTT GAGAATGTATAAGTTGAGGTGAGTTATGTTGAGAAAATATGTCATATAGA AGAAAATAAAATTTAGAAAAGATGAAAAGGAAATAGGAGAGGTGGATACA GCCTAATATCTTCCAACTGGAAGCTTAGATTAGGATTTTAGATTAAATTT TCTTAAATTTTTAAAGCCCCAATCATGTTCTATTAAATACCTTTTTTTTG GGACATACATTACTCTTTCAAATTCTGAATAAAAATTCTTTCTCCAGGTG TTAAGTTGCTGGAA	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19056.hp2 NA19056.hp2	a0033 a0033	a0033c0025 a0033c0025	a0033c0025t0001 a0033c0025t0001	a0033c0025t0001g0123 a0033c0025t0001g0123	1	210	0.0048	-3863	c.103 others(18): Show c.1034+487_1102-1014del	ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding	12/76		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKRD36_chr2_97108153_97269521	97147002	TAAACCAT others(3855): Show TAAACCATCAAAATTTTAAAGGCAGATATCAGTTACCTGTGGCCACAAGA CCGTAAGTTTTTTGTAAGCAAGACTAGGCCAGTCCTAGAAAAATATTATT TTACTGTGCATGGAGAATACCTAAATATAGACCATGTTATGACAACTATA TTTAGCATATATTAAAATGATATTTCTAATTCATGTCTCTACTTACTCCC TACCCAGTTAGGTTTTCTCTTTAAGTGAGCACCCTGCCTAGTTTGCTGAA GCTTTTTCTTATTTTGTGGATTCTTCTTTTTTCCTTCTATGACATTTTAG TATTTTCTTGATTTCTTTTCACTTTCTCTACCACTTTTCTTAGGGTTTAA GATCTTCTTTTATAGTTTTCATGTATGGCAGCTAAATATTCCCCATTTTC CTATAGACACAATCAGAGGTGCATAAAATTTCAGAATGTTAAGAAATCCT AGAGACTAAACAAAGTATCCTCTAGTGCTTGAATCCTTGCTTAACATCCT GATCAAGTGGTTGTTCAGGTGGAGAACCTGAAACTCAAAGAGAGAAAATT ATTTGGATACAGTAAATCAGAGAAATGAGAATTGCACTCAGGTTTCTTAG TTCAAAACGCAGTCTTCTTTTACATCATTCTGTCATTGAGTGATTTTAGT TTTAGAAAGAGGGAGTGGCTCTAGTGAACACAGTGGAAGAGGATGAGAAT TGAATGAGCTGTTGAACCTAATGAAAGTGAATAAGAATGGAATTTGCAGG GGGCAGCCAAATTTGAAGAGAAACAAACTCTTAGTTTGATAGAAATGAGG ATTTTAGGGAAAAATCTGAATATTTGGTTTAATGCAAGTTTGATAAAGAT AAGGGAAATGATAACACAGGATGTTGGGAGCTATCAAGAAAGGCATATTA GAATATGGCGTTCAAGGAGTTCTGAAGAGTTTGCTGCCTTTTTGTTTGTT TAACTGGAGGAACTAACAAACTTCAAGGTTTTATTGAAAAATGTTAAAAG AATTTGAGCCACTGGAAAGAGTCTCCAGAGGAGATAGGAATGTGGTATCA TCTTCTTCCATCCCAGCTTACAGAGGGCTTAGAATCCCTCAAGAACCAGG GAGCTGGAGATTGCTTAAGTACATAGATCTGTGATCCAGGGTGGATGTCT CTTTTTTTCTGACTCTTTTCTCAATTCTCTCATGTACATGTAGGGTGGGA CAAATGTAGGATTGGCCGGCAAACCAGCAATGAAGCTTCATTTGGGTAGT TGGTAACATGCGTATGCTTGGGGTGGATGACTGAGACTAACTTACTTTCC AGAAGCAGAGGAATAGAGAGCTCCTACTCTCAATTATGTTAGCCCATCTT TTGAGAAATCTGGGCTTTCCTAGGCTGAAGATGTAGATTGGAGATTGCCA CAGATCCCTGCAGAAGAGGGATCCAGAAGTGGGAGCCCATAGGAAGGAAG ATATTTAGATAGGGATGAATGAAATGGAGCTATAAGTACTTAGGAGGGAG ACTTTTCCAGCAGTCTCTCTCTTGGGTATCTGAGTGTCTATGAAGGTTCT TAAGCTTGCTGGTTTTTGTGGATCTGAATAAGGCAGAATCTATATAATGA CGATAATTGGATTTTAAAATTTTTAATGTTTTAATCTTCTGTGAAGAATA TTCCCAATAACAATCTAACAACATATACATTTGTACTTTGACTTTTGTAC ACTCAGCTTTCAAACATTTGCAGTGTTTCAGGGGGCTCCCTGTAGTGTTC TAGGGTGAAAAGAATCAATGGGCCCTCTTTAAGTAGCTTACATGCTGAAG ATCCAAGACTCCCATTTTCCAGTGACACAGATTAGTCTTTGAATCAGAAA TAGATAATGGAGAAGAGACCGTGCCTTTTCTACCTTGTTTTAGGTTATCA GGTTTACTGCAGTTCAGTAACAAAAGTTGTGTCAGATATCAACTGGATTT TCAGTTTAGTCTTTAGGGTAGATAATTTATAAGGACAAATTATTGTCTGG CTGTGCCATTATAATGCCTGTCACTATTTGTTATGGGTTTAAGGGTGAGT CTGCATTGGATATTTCATAGGTTGGGAGAAGTGGCAGCAGAAATAGGTAA CTGAAATGTTTTCTAAAATGGAAGCCATATCTTAATTATACCAAGAAATA TTATTTAACATGCAGATAACTGAGTTTCCTCAGACTTTGTTTTACCATTT TTTTGGAGTGGACATACGTGTATAGACTGACGGTTTTTGTTTTCTTTTAA GAAATGAATGAGCTCATTTTTGTAATATCTTTTTGCTCTGTAGGAGTCTC TACAGACCTGATGCTGTTGCACAGCCTGTGACAGAGAATGAGTTTTCTTT GGAATCTGAGGTAGAGTACTCTCTTGTGAAATTAATTTTCTCCCTCTGAA TCTCATTTTTTATATTATTTTCTTCTAAAACTTAGCAGTTGTCTACCTAT CATTGTTTTATGTTACTATTAAAACTTTTATTAGAGATAACCATTTTAAA GAAATGGGAGGGGTTAATTTTAATTTTTTTTACTTTGGCAAATAAGAAAT AGTTGATAAATACTTTGAGAGGTGTGATCTGAAAAAAAATTGCTGGAAAA TACACAGTGACAGAAAAATGATGTTCGGGAATGCTTTCCCACAGTAGAGG ATATACAAATTTTGGTCTAGGCTTATTTGAGTGTTTTTACTTTGAGTTGT ATATCATATGAGTATGACTAATAATACCTCTGTTTAAATGAATCTTTAAT ACATCAGATGACTTATCAAAGAAATCATGGAATCACTCTGTTACACATAG CATATAGTTTCTTTTTATTTCTTGTGCACATATTTTGATATCATACTGTA TTTTTGCAGAGCTATTTCTTTATTTTTATTCCTGGCTCTGTAATTAGACT AAAATAATATTAGAAATTGTGGAAATTTAACTAGACATGGTATCATGTGC CTGTAGTCCCACCTATTCAAGAGATCAAGTCAGGAGAATTTCTTGAGCCC AGGATTTTAAGACCAAGCTTGACAATATAACAAGTGCTTATCTCTAATTT TAAAAAGTTGTGGAATATTAGAAATTCAAATTCTGTTCTCAAATCTGTAT TAGAGAGGGTTTACACTGTGTTTTCCAAGCCTTTTTTATTTAGAGTATAC TTTAAACTCTTTATTTAATTGAAAAATATGCATTTTGTTTAAATAACCTG TTTGATAAACAGAGACTCTTCATATTTTATGGTCAGACTTTAATTTCACA ATGTTTTTGAATTGTAATTAAAAAGAATCCACTCAGGGTCTTTGTATGGC ATTCTAAATTTCAAATTTCAGAGGCTTTTGTGCTTAGTTATTGAAAAAAT AATTGTAAAGCTCCTGCATTACTATGAGGCACTTGAAACTAGAAAACCTA TTTGTATGTGTCCTGGAATACACAGAATAAGGTCTTGCATGTAAGAAACA CTTTAATAGTTTTTAATGTGAATCAACAAACAGGTAAATGGGCTTTCTCA TGATGGAATGTTACAGGTAACCTAATATGCATGACATATCTAATAATTAA ATCTATTAAATGTCTTGAATGTTTTGAATTTATCTTTTTTTCTAATGTTG AGAATGTATAAGTTGAGGTGAGTTATGTTGAGAAAATATGTCATATAGAA GAAAATAAAATTTAGAAAAGATGAAAAGGAAATAGGAGAGGTGGATACAG CCTAATATCTTCCAACTGGAAGCTTAGATTAGGATTTTAGATTAAATTTT CTTAAATTTTTAAAGCCCCAATCATGTTCTATTAAATACCTTTTTTTTGG GACATACATTACTCTTTCAAATTCTGAATAAAAATTCTTTCTCCAGGTGT TAAGTTGCTGGAA	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19079.hp2 NA19079.hp2	a0035 a0035	a0035c0040 a0035c0040	a0035c0040t0001 a0035c0040t0001	a0035c0040t0001g0122 a0035c0040t0001g0122	1	210	0.0048	-3862	c.103 others(18): Show c.1034+487_1102-1015del	ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding	12/76			chr2	TogoVar
ZNF717_chr3_75730868_75790549	75749867	GTCTGAAT others(3854): Show GTCTGAATGTTTGTCCCTCACATAGGATTCCAGAACACTGCTGTTGGGTT CTGAGGGTTTGTCCCTCACATAGGATTCCAGAATACTGCTACGAGGGTCT GAATGTTTGCCCCTCACACAGGATGCCTGAACACTGCTGCTGGGGTCTGA ATATTTATCTCTCACATAGGATTCCAGAACACTGCTACGAGGGTCTGAAT GTTTGTCCCTCACATAGGATACCAGTACCCTGCTGCTAGGGTCTGAATGT TCCTCCCTCAAATAGGATACTAGAACACTGCTACAAGGGTCTGAATGTTT GTCCCTCACATAGGATTGCAGAACACTCCTGCTGTGGTCTGAATGTTTGT CTCTCACATAGGATTCCAGAACACTGCTGGTGGGTTCTGAGTTTCTGTCA CTCACAAAGGATCCCAGAACACTGCTATGAGGGTCTGAATGTTTGTCCCT CACATAGGATTACAGAACACTGCTGCTGGGGTCTGAATGTTTGTCCCTCA CATAGGATTCCAGAACTATGTTACGAGAGTCTGAATGTTTGCCCTCACAC AGGATTCCAGAACACTCCTACTGTGGTCTGAATGCTTGTTCCTCACATAC AATTCCAGTACACTCCTGCTGTGGTCTGAATCCTTGCCCCTCACATAGGA TTCCAGAACACTGCTGCTGGGTTCTGAGGGTTTGCTCCTCACATAGGATT CCAGAACACTGCTACGAGAGTCCAAATGTTTGCCCCTCCAACAGGATTCC AGAACACTGCTGCTGGAGTCTGAGTGTTTGTCCCTCACATAGGATTCCAG AACACTGTTACGAGGGTCTGAATGTTTGACCCTCACATAGGACTCCAGAA CACTCCTACTGAGGTCTGAATGTTTTTCCCTCACATAGGATTCCAGAACT CCCCTCCTGTGGTCTGAATTTCTCCCTCACATAGGATTCCAGAACAATGC TGCTGTGTTCTGAGTGTCTGTCCCTCACATAGGATTCCAGAAGACTGCTA TGAGGGTCTGAACGTTTGTCCCTCTCATGGGATTCCAGAACACTGTTACG AGGGTTTGAATGTTTGTCCCTCACATAGGATTCCAGAACACTCCTACTGT GGTCTGAAAGTTTGTCCCTCACACAGGATTCCAGAACACTCCTACTGTGG TCTGAATGTTTGTCCCTCACACAGGATTCCAGAATACTGTTGCTGGGTTC TGAGTATTTGTTCCTCACATAGGATTCCAGAAAACTGCTATGAGGGTCCG AATGTTTGCCCTTCAAATAGTATTCCAGAACACTGCTGCTGGTGTCTGAA TGTTTATTTCTCACAAAGGATTCCAGAGCACTGCTAGGAGTGTCTGAATG CTTGTCCCTCACATAGGATTCCAGAACTCTCCTGCTGTGGTCTGAATGTT TGTACCCCATGTAGTACTCAAGAACACTGCTGCTGGGGTCTGAATGTTTG TCCCTCACATAGGATTCCAGAGCACTGCTAGGAGCATCTGAATGCTTGTC CCTCACATAGGATTCCAGAACTCTCCTGCTGTGGTCTGAATGTTTGTACC CCATGTAGTACTCAAGAACACTGCTGCTGGGGTCTGAATGTTTGTCCCTC ACATAGGATTCCAGAACACTGCTGCTGGGGTCTGAATGTATGTCCCTCAC ATAGGATTCCAGAACACTGCTGCTGGGTTCTGAGTATTTGTCCCTCACAT AGGACACCAGAACACGCCTGTTGTGGTCTGAATGTTTATCCCTCACATAG GATTCCATAACACTCCTGCTGTGGTGTGAATGTTTGTCCCTCACATAGGA TTTCAGAACACTCCTGCTGTGTTCTGAATATTTGCCCTCACATAGGATTC CAGAACACTGCTGTTGGGTTCTGAGTGTTTGTCCCTCACATAGGATTCCA GAACAATGCTATGACTGTATGAATGTTTGTCCCTCAGATAGGATTTGAGA ACACTGCTGCTGGATTCTGAGTGTTTCTCCCTCACGTAAGATTTCAGAAC ACTACTACGATGGTATGAATGATTTTCCCTCACACAGGATTCCAAAACAC TGCTGCTGGGATGTGAATGTTTGTCCCTCACATGGGATTCCAGAACACTG TTATGAGGGTCTGAACGTTTGTCCTTCACATATGATTCCAGAACACTCCT ACTGTGATCTTAATGTATGTTCCTCACATGGGATTCCAGAACACTCCTGC TGTGGTCTGACTAACCCTCACATAGGACTCTAGAACACTCCTACTGTGGT CTGAATATCTGTCCCCCACATAGCATTCCAGAACACTACTGCTGGGTACT GAGTGTCCCTCACATAGGAATCCAGAACACTGCTACGAGGGTCTGAATGT TTTTCCCTCACATAGGATTCCAGAACACTGTTGCTGGGTTCTGAGTGTTT GTCCCTCAGATAAGATTCCAGAACACGGCTACGAGGGTCTGAATGTTTGT CCCTCACATAGGATTCCAGAACACTGCTGTTGGGGTCTGAATGTTTGTCC CTCACATAGGATTCCAGAACACTGCTTCGAGGGCCTAAATGTCTGTCCCT CACATAAGATTCCAGCACACTGCTATGCGGTTCTGAATGTCCTCACATAG GATTCCAGAGCACTCCTGCTGTGGTCTGAATATTTGTCCCTCACATGGGA TTCCAGAACACTGCTACGAGGGTCTGAATGTCCCTCACATAGGATTCCAG AACACTCCTGCTGGGGTTTGAATGTTTGTCCCTCACACAGGATTCCAGAG CACTCTGCTGTGGTCTTAATGTTTTTTAATCACATAGGATTCCAGAACAC TGCTACAAGGGTCTGAATGTTTGTCCCTCACATAGGATTCCAGAACACTC CTGCTATGGTCTGAATGTTTGTCCCTCACATAGGATTCTAGAACATTCAC ATTGGGGTCTGAATGTTTGCCCTTAACATAGGATTTCAGAACACTGCTCC TGGGGTCTGAATGTTTGTCCTTCAAATAGGATTCAAGAACACTCCTGCTG TGGTCTGAAAGTTTGTCCCTCACATAGGATTCCAGATCTCTCCTGCTGTG GTCTGAAAGTTTGTCCCTCACATAGGATTCCAGAACACTGCTGCCATGGT CTGAATGTCCCTCACATAGGATTCCAGAACACTTTTGCTGGTGTCTGAAT GTTTATACCTCACATAGGATTCCAGAACACTGCTATGAGGGTCTGAAAGT TTGTCCCTCACATAGGATTCCAGAACACTGCTGCTAGGGTCTGAATATCT GTCCGTTACATAGGATTCCAGAATACTGCTGCTGGGTTTTGAATGTCTGT CCCTCACATAGAATTCCAGAACACTGCTGCGAGTGTCTGAATGTTTGTCC CTCACATGGGATTCCAGAACACTGCTGCGAGGGTCTAAATGTCTGTCCCT CACATAACATTCCAGCACACTGCTATGAGGTTCTGAATGTTTGTCCCTCA CATAGGATTACAGAGCACTCCTGCTGTGGTCTGAATTTTTCTCCCTCACA TAGGATTCCAGAACACTGCTGCTGTGGTCTGAATGTTTGCCTCTCACATA GGATTCCTGAACACTGCTACGAGGGTCTGAATGTTTGTCCCTCACATAGG ATTCCAGAACACTGCTGCTAGGGTCTGAATATCTGTCCGTTACATAGGAT TCCAGAATACTGCTGCTGGGTTTTGAATGTGTGTCCCTCACATAGAATTC CAGAACACTGCTGCGAGTGTCTGAATGTTTGTCCTTCACATAGGATTCCT GAACACTGCTACGAGGGTCTGAATGTTTGTCCCTCACATAGGATTCCAGA ACACTCCTGCTGGGGTCTGAATGTTTGTCCCTCACATAAGATTCCAGAAC ACTGCTGTGTGA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03209.hp1 HG02258.hp2 HG03209.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0105 a0003c0003t0003g0106 a0003c0003t0003g0105 a0003c0003t0003g0106	2	358	0.0056	-3861	c.58- others(16): Show c.58-11992_58-8132del	ZNF717	ENSG00000227124.11	transcript	ENST00000652011.2	protein_coding	2/4			chr3	TogoVar
CSRNP2_chr12_51056205_51088596	51084595	GGAGTTCG others(3852): Show GGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAA AATACAAAAATTAGCCGAGGGTGGTAGCACGTGCCTTTAATCCCAGCTCC TCGGGAGGCCGACCCAGGAGAATGGCTTGAACCCGGGAGGCGGAGGTTGC AGTGAGCCAAGACTGCACCATTGCCCTCCAGCACGGTCAACAAGAGCGAA ACTCCGTCTCAAAAAAAAAAAGAAAAAGAAAAAGAAAAAAAAGGGGAAAA CCAAGATTAAGAAGTCAAAAGTTGTATGTGATTTGCCAAGGACACATAGC CTTGGTTTCTTCTTTGTTGTCTTTCCCTTGAACTATAAGGCTCGGCAAGC TCGAGCTGCATTCTCTTGTCCCCCGACCCCCACCCCGCCCCCTCATTTTG TTCTGTCATCTTGTTTGCTTCTACTTTCCCCCTTCCATACTCTGCTTGAA TACACTGGCCTCATTGCAGCTCCTTCAACTGGGCAATCATTCTCTTACCT CAGGGCCTTTTGTCTGGCTTCCACCAGCTAGCCACATACTTACTCCCTCA CATAATATCTGCTCGAATGTCCCCATATCCGAGATCTTCCCTAACCATAT TTCTTTTTCCCTGCATTAAGAGACAGGATTTCACTCTGTCACCCAGGCTG GAGTGCAGTGGCGCAATCACGGCTCACAGCAGCCTCAAACTCCCGGGCAC AAATGCCTAACCATATTTCTAAAATGGTGCTTCTCCTTAGTTTCTATCCC TGTGCCTTATATTTCTTCTTAGCATCCACGTATTTGTTTTTGTCTTGTCT CACTTGACTAAATTCGGTGAGAGCAAGGAATTGTTTTGTTTACTGTATCC TCAACACACAGTACAAAGCCTAGTAGTTGACATTTAAGAGTATGATAGAT ATTTATTGGATAGATGGATGGACAGCAGGATTTAAACTCACGTTAGGCTG GTTCCAAAACCTGGTACATTTTTCACTGCAACCAAGAAACTATGAAGCCA GATCCACTAGCTACCAAGCCATCTCAGCTTTAGAAGTGAGAGGCTGGATG GCTTGGGAAAACATGCTAAGAATTTCAGTTCTCTCCCCTAGGTGACATCA GAGACTCCAAGAAGCTAGGACACTACACTGCAAAATAAAAAAGCAGTAGA TCAGAAAAAAGCAATCTTTTGGTAACATGCACTTGTCATCTCTCTTTGCT GAAATTCAGAGGCAATATAATGAGTGATCAAGAGCATGGATCCTGGAGTG ATCGAGAGCATTGATCCTGGAGCCAGACTGCCTGAATATAAACCCCACTT CCTCTACTTACTAGTGGCATGACCCCGGGCAAGGGACATAAGTTTTCTGC CTTAGCTTCCTCATTTGCAAGCCAGGAATAACGATGTCTATCTCATTGGG TTTTGTGAAGATTAAACAGCTGATATATTGGAAAATGTTTACAACAGTCA GTGCTGTGTAAATGTTAGCTATTTTTAATCATAAGCTTTCTATTCAGTTG TGTAGAAGGTTTGGTTCATGATCCCATTCTTCCTGTGCATACAGAAGACA AAAGGGAAGAGAAAACTATCCTAGACCACTCTATAGAATCAGTAGGCTGA GTAACAAAAAACCAGCCTGATGCCCATGTTGAGGATGCTAAAAAAGTGTC TCATATGCCTACACATCCAGTGTTCCAGCAGTCATGGAAATTCATCAGGG TACCATCAGCCCCAGTGCCCAATGCATTAACCTCAATTGGTTAATGCCAC CAAACTAGAAGATAGCCAAACCAATGTTAGTACATCCTTTGAGAAGACGG CAGAATTCAATTTGGCAATAAGCTCTTGATCAGTCAGAAGATCATCTGGG CCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTAGGAGGCTGAGG AGGGAAGATTGCTCGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGG AGGGAGACTCTGTCTCACAAGAAATTTTTAAAAATTAGCCAGGTGCAGTG GCATGCACCTGTGATCCCAGTTACTTGGGAGGCTGAGGTGGGAGAATCAC TTGAGCACAGGAGGTCAAGCTGCAGTGACAGCTGTGTTCATGCCACTGCA CTCCAGCCTGAGTGACAGAACAAGACCCTCTCTTTTTTAATTAAAAAAAA TAATAAAATAGAGATGGGGGTTCTCCCTGTGTTGCCCAGGCTGGTCACGA ACTCCTGTGCTCAAGCAATCCACCAGCCTCAGCCTCCCCAAGTGCTGGGA TTACAGGCCTGAGCCACCACACCCGGCAGAGACTCTGTCTCTAAAAATAA AAATAATAGGCTGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTGGG GAGGCCAAGGTGGGTGGATCACTTGATGCCAGGAGTTCAAGACCAGTCCA GCCAACATGGCGAAACCCCATCTCTACTAAAAATAGCTGGGAATGATGGC ACGAGCCTGTACTCCCAGCTACTTGGAAGGTTGAGGCATGAGAATCGCTT GAACCCAGGAAGGCGGAGGTTGCAGTGAGCCGAGATTGCGCAACTGAACT CCAGCCTGGACAACAGAACGAGACTCTGTCTAAAACAAAAAACAACAACA ACGAAAAAAATCATGACCCGAGCAGTGTTTTCTTTTCTTTCTTCCTTTTT TTTTCTTTTCTAATAGAGAGAGGGGTCTCACGTTCCCCAGGCTGGCCTTG GACTCCTGGGTTCAAACAATCCTCCTGCCTTTGCCTCCCAAAGTGCAAGG ATTACAGGCATGAGCCACCACGCCTGGCCCTGGGAAGTGTTTTATACTTT GGTCTTGCAGCTATGACTGTGTGTGAAGGTGATCTTATAGTCAGTAGTAT CCTTAGATTATTGAGCTAATGAACAGGTGTATAGTATTCAGTATAAACTG TTTTACACTCATAATCCCTTTAAAACTCTCAAATAACTCTATGAATTAAG TATTACCTCCTTTTTAATACTTAATTCATAGGGTTAAGATGATAAAATTG AGGCTTGAAAGATTACTCTGTCCAAAGTCATATCCAGGAAGAGAAGGATC TGGGATTTGAATGCAGGCCTATCTGACACCAAAATATATACTGTATCAAC TACCTCTTACCACCAAAAGATAAACGAGAACACATTCCCCAGAGAGGTGA AAATAAATAGGACAGAGGATATAATATGTTGAAATTCTTAGAGAAAAAGA GTTAAAATAAAAATCTAAGGCATTGTGTTTGTTTTTCTGAAAAGGTATCT GTAGACTTAGCCCTAAAGTTGTTATGCTACTTCACTAATTGACATTTAAT TATATTATATTCCAGATCTAGAGAGACAGGCACCTCTTTGTGACTAATTC CACACTAACAAAAAGAGAACAGTATGTGTAAATCTGAGAAAAAGAGTGCC ACAGCAAACTGAAAGCACAAACACCAAAGAAGTCATATGCGCCATTGCAC TCCAGCCTGGGCGACAAAAGTGAAACTCTGTCCTCCCACCACACAAAAAA AGGAAAAGAAAACAAGAATCTACATTAATTAAAATGTGCACCTCATCTTA AACATATCTAATACATGAAAACAGAGATTCGCATAATAGGTAAACCAGTT ATAACTCATGTCCCAAAATACCATATCAGTAAAAAATAGTACAATAAGAC AACAAATAATACAATAATATTAGTTTAAATAGCAAGTTCCCTTATAATTG ATATTAATCCAATTGAAAACTTTAATTCATATAAACTTTTCAGTGTCTGA ATTTGAAAATGCAAATGCTAGACTTACTTGAAATTTTTGGCCAGGCGCGG TGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCGCAGGTGGGTGGATC ACAAGGTCAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	418	0.0024	-3859	c.-52 others(11): Show c.-5202_-1344del	CSRNP2	ENSG00000110925.7	transcript	ENST00000228515.6	protein_coding		1000		chr12	TogoVar

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