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
ABCB5_chr7_20610667_20762008	20667651	GGAAAATA others(2085): Show GGAAAATAACATTCGCCTCTGCCCCTGCCCCTGCCCCTGCCCCTGCCCCT GCCCCTGCCCCTGCCCCTGCCCCTGCCCCTGCCTCTGCCTCTGCCTCTGC CTCGTCTCCCTCTGATGCCGAGCCAAACCTGGACTGTACTGCTGCCATCT CGGCTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGAGT GCCTGCGATTGCAGGCGCACGCCGCCACGCCTGACTGGTTTTCGTTTTTT TTTTGGTGGAGACGGGGTTTTGCTCTGTTGGCCGGGCTGGTCTCCAGCTC CTAACCGCGAGTGATCCGCCAGCCTCGGCCTCCCGAGGTGCCGGGATTGC AGACGGAGTTCGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAG TGGCGTGATCTCGGCTCGCTACAACCTCCACCTCCCAGCCGCCTGCCTTG GCCTCCCAAAGTGCCGAGATTGCAGCCTTTGCCCAGCCGCCACCCCGTCT GGGAAGTGAGGAGCGTCTCTGCCTGGCCCCCCATCGTCTGGGATATGAGG AGCCTCTCTGCCTGGCTGCACAGTCTGGAAAGTGAGGAGCGTCTCTGCCC GGCCGCCATCCCATCTAGGAAGCGAGGAGCGCCTCTTCCCCGCCGCCATC CCATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGAT GTGGGGAGCACCTCTGCCCCGCCGCCCTGTCTGGGATGTGAGGAGCGCCT CTGCTGGGCCGCAACCCTGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCC GCCCCGTCTGAGAAGCGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCTG AGAAGTGAGGAGCCCCTCCGTCCGGCAGCCACCCCGTCTGGGAAATGAGG AGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGACTCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGT CGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCGCCCAGCCGGCCGCCCCGTCCGGGAGGTGTGGGGC GCCTCTGCCCGGCCGCCCCTACTAGGAAGTGAGGACCCCTCTGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCTATCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGATGG TGGGGGGGGTCAGCCCCCCACCCGGCCAGCTGCCCCATCCGGGAGGTGAG GGGCGCTTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCACGACCCCGTCTGGGAGGTGTGCCCAGCGGCTCATTGGGGATGGG CCATGATGACAATGGCGGTTTTGTGGAATAGAAAGGCGGGAAGGGTGGGG AAAAAAATTGAGAAATCGGATGGTTGCCGGGTCTGTGTGGATAGAAGTAG ACATGGGAGACTTTTCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCT TGGGATCCTGTTGATCTGTGACCTTATCCCCAACCCTGTGCTCTCTGAAA CATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATG TGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCA CCACTCCCTAATCTCAAGTACCCAGGGACACAAACACTGCGGAAGGCCGC AGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGC TGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGCG AGAAACACCCAAGAATGATCAATAAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp2 HG03688.hp1 others(5): Show HG00423.hp1 HG00621.hp2 HG03688.hp1 NA18949.hp2 NA18988.hp2 NA18998.hp1 NA19077.hp1 NA19091.hp2	a0008 a0011 a0015 others(4): Show a0008 a0011 a0015 a0028 a0032 a0062 a0067	a0008c0009 a0011c0013 a0015c0021 others(4): Show a0008c0009 a0011c0013 a0015c0021 a0028c0034 a0032c0082 a0062c0081 a0067c0083	a0008c0009t0002 a0011c0013t0001 a0015c0021t0014 others(5): Show a0008c0009t0002 a0011c0013t0001 a0015c0021t0014 a0028c0034t0001 a0028c0034t0018 a0032c0082t0001 a0062c0081t0008 a0067c0083t0002	a0008c0009t0002g0177 a0011c0013t0001g0104 a0015c0021t0014g0109 others(5): Show a0008c0009t0002g0177 a0011c0013t0001g0104 a0015c0021t0014g0109 a0028c0034t0001g0114 a0028c0034t0018g0101 a0032c0082t0001g0108 a0062c0081t0008g0106 a0067c0083t0002g0107	8	358	0.0223	-2092	c.170 others(20): Show c.1707+8990_1707+11081del	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
GAL3ST2_chr2_241771822_241809287	241805322	ACCTTCCC others(2084): Show ACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTC CCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTC CCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAG CTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	297	0.0034	-2091	c.11 others(11): Show c.1157_*3247del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1036		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805322	ACCTTCCC others(2084): Show ACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTC CCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTC CCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAG CTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	303	0.0033	-2091	c.-39 others(11): Show c.-3955_-1865del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3870		chr2	TogoVar
AK5_chr1_77277019_77564966	77364928	GTTTTTGA others(2082): Show GTTTTTGAGGAGCCTCCATACTGTTCTCCATAGTGGCTGTACTAGTTTAC ATTCCCAACAACAGTGTATGGCCTACCCCTGTTTTTGCACCTTCACCAAC ATTTGTTGTTTTTTTTATCTTTTGATAACATTCATGCTACCTGGTGAGAT GATACTTCATTGTATTTTGTTTTGCATTTCCTTGATGATTAGTGATATTG AACATTTTTTCATATATTTGTTGGCCATTTTTCTTCTTTTAAAAAATGCC TGTTCAGGTCAATGGCTCATTTTTTAATTGGATTGTTTGTGTTTCCGCTG TGGAGATGTTTGAGTTCCTTGTATATTCTGGATCTTAATCTCCTGTTGGA TGAATAGTTTGCAAGTATCTTCTCCCATTCTGTAGGTTGTCTTTTTACTC TGTTAAAAAAAATTTTCCTGTCACCTGGGCTGAAGTGCAGTGGCACGATC CTAGCTCAGTGCAGCCTCAAACTCCTGGGTTTGGGCAATGTTATACTTTG TTTCATCTTGAAGGAAATATAGCAAATTATTAACTCTGGTGTTCTGTAGG TCAGCAGTCCCCAACCTCTTTGGCACAAGGGACCAGTTTTGTGGAAAACA ATTTTTCCATGGGGTTGGGGGATTGTTTCAGGATGAAACTGTTCCACCTC AGATGGTCAGGCATTAGTTAGATTCTCATAAGAAGCACACAACCTAGATC CCTTGCATGTGCAGTCCACAATAGGGTTCACGCTTCTATGAGAATCTAAT GGCACTGCTGATCTGACAGGAGATGGAGCTCAGGCAGTAATGCTCCCTTG CCCACTGCTCACTTCCTGCTGTGCAGCCCAGTTCCAGCAGGCCATGGACA GGACCAGTCTGTGGCCTGGGACTTGGGGACCTCTGCTCTAGGTGATGTTT CCAAGAGGTTTCTTTTATCTCTTTTGTAATTCTCTTTTATTTCTAAATAT GCACATTGCTTTTATAATCAGAGTTTTCTTTCAAAAGCTATATAATTCAT GTTTCTTTTCAAAAAAACATGTAATGGCACTGCTTGGGCAATGGGTGCAC CAGAATCTCAGAAATCACCACTAAAGAACTTATCCATGTGACCAAACACC ACCTGTTCCCCGAAAACCTATTGAAATAAAAATAAGAAGACTGGAAAAAA TGTAATGGAAATTAAATCATAATAATAATTATAGCTACTATTGATAAAGG GTATCAGAGACTTTATGCACAAGGGCTAGGTCTTCTATGCCCATTATGAA AGAGACAGAAAAAAACAAGTTTTATAGTCAGGTCCTACTTAGTTTCTTTA AGCCTCTATTTGCTCATCTGTGAACTAGCCTAACAATACCCCCAGAGAAT TTCTCTGCAGATTAAATGAGGTTAGGCATATAAAATATTTGGTCCAGTGC CTAGCACATTATAAGCCCTTGATAATTTGTAGGTGCTATTCCTATTTTTG TTTTGGTTGCCATCATTATCTCCCATATGTTTAACAACCTTTAATTATAA TATGGATAAGACTATTATATTTATAGAGATAAAATAATTTGTCCAAGTTC ACACAGCAAGTGAGTGATAGATCCAGAATTTGTTTCATCCCTGCCAAGAT GCAAAGCCCATGCCTGGTCTCTCTACCACACCATTCTACCTCTACCCCAG GAATAAGGGTTGCAAAGCTTTATTTTCACAGTGAGCACCAAAGTGTATGG TATCAAGTTATTCATACTCAGCTGCCTTATTTTTGACATTCTCCTCTGGA TGAATGTGTGAACATGAACCATATGTCTTAGAGTTAAACTTTCAGGAAAG AACGTGTGATTTTCAACTTGTGGACAATTTTTAGTTTATAGTATCTCTAC TCTTCAGTAAGGTCAAATCATAATGACAAGAGGTTGTCACCGGGCTACAA TGCTGGTAAATTACTCAGTGACTTAAAATTCGCTTTTAACTTATATATAC CTTAAGCAGAAGACTTAGTATTTTTTCCATCTTTAAAATAAAGGTTTTTA TATTAGCCTTCACCCATCATTGTTAAATGTCAACGGTCTACCTGTGAATA GTATCATCTTCACTTCAGAAATGCCAAGGCTCTGAAGCTA	G G	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0276 a0002c0002t0002g0276	1	282	0.0035	-2089	c.891 others(19): Show c.891+24365_891+26453del	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAJC11_chr1_6629170_6706816	6647256	TATTTTTA others(2081): Show TATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAA TTCCTGCCCCCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGAT TATAGGCACGAGCCACTGTGCCCAGCCAACAGGTCGATATTTTTGATTTA AGATGGCTTATTCGGCCGTAACTCCATCGTAAATCAAGGAACATCTGCAA CTTGATCCAAGGATTAGAGGACCGTGGTTAGCAGACATCCATAACTAACC TGGCCACTATATATTAAGAAACTGGGCTAGTAGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGTGGGTGGATCACAAGG TCAAGTGATTGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTAGT AAAAATACAAAAATTAGCTAGGCGTGGTGGCATGTGCCTGTAGTTCCAGT TACTTGGGAGGCTGAGGCAGAATAGCTTGAACCTGGGAGGTGGAGGTTGC AGTGAGCCAAGACTGCGCCACTGCACTCCAGCCTGGTGACAGAGCAAGAC TCCGTCTCAAACACAAAACAAAACAAACAAAAAAAAGAAGCTGGCATCCT TGGTCACACATCACCCCCTTGTTTATAAATCAGTTGTCCTTCCGTTTAAA TCTGCTCAAGTCTAATAAGCTCTGAGTAGTAAAACTAAATTCAATTTCCA AACCTGTAAATGCTGATGATCAGTCCACCCCAAACTCTTGGTGACCACTC AATGAATAGACACTGAGGCTCAACCAGAACAAAACGGCCAAAAGATTTTG CTTAATGAAGTGTCTCCCAAGCTTGTGTGACCTTAAGAATCACCTGGGGC GCTTGAAACACCTAGATTCCCAGTCCCCTCCCTCATAAGACCCAAAGCAG CTTTTTTTCTTTTTTTTGAGACAGAGTCTCGGCTCTGTCGCCCAGGCTGG AGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCA GGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGTGCCCA CCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACC ATGTTGGCCAGGCTTGTCTTGAACTCCTGACCTCAGGCGACCCGCCTGCC TTGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCGCACCTGACC AGCATTTCTTTTTTCTTTTGAGAGAGGGTCTTGCTCTGTCACCTAGGCTG AAGTGCAGTGGTGTCATCATGGCTCACTGCAGCCTCGACCTCCTGGCCTC AAGCGATCCTCCCACCTCAGCATCCCAAGTAGCTGGGATTACAGGTGTGT GCTACCACACCTGGTTAATTTTTATATTTTTTGTAGAGTCAAGGTTTTGC CATGTTGCCTAGGCTGGTCTCAAACTCCTGAGCTCAAGTGATCGTCTCAC CTGGCCTCCTAAAGTGCTGGGATTACAAGCATGAGCCACCACACCCTGCC CCCGAGGCGGCTTTTAACCAGCATCTGGGGTGACCAATCTAAGTAGACAG GGTCAGGACAACACTGATGTGTATACAGATGCTGTTTCCCTGCTGTTCTC TTCTAAGTATGAATCCCGGTCCCCTTTGCAGACCCAGTAGGTGAATCCAA TTACGTAGAGCAGGGGACTGTGGAGCTGTGTTGTGAGCAGCACCCAGGTG ATGCCCCATGGCAGCATGTCCCACATTCCTTCCATCTTTTAAAAAAAATT TTTCTCGGTGGCAGTCTTGCTCTGTCGCCTAGGCTGGGGTACAGTGGTGC AATCTCAGCTCATTGCAGCCTCAACCTCCCGGGTTCAAGCAATCCTCCCA CCTTGGCCTCCCAAAGCCCTGGGATTGCAGGTGTGAGTCACATCGGCTCC TTTTCCTCTTCTTGTGTCTGGAAGCACTGCTTTTTTTTTTTTGAGACAGA GTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCC GCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTAAAGGCGCCCGCCACCGCTCCCGGCTAATTCTTTGC	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0042 a0003c0004t0002g0042	1	364	0.0027	-2088	c.704 others(17): Show c.704+2185_705-1279del	DNAJC11	ENSG00000007923.17	transcript	ENST00000377577.10	protein_coding	7/15			chr1	TogoVar
USP54_chr10_73492538_73596342	73568424	TCATCCAC others(2080): Show TCATCCACACTTCCAAATTAGTCTATCTGCATTACAAGTCTATAATTTTC AAATCAAGTATACAATAATTAAAAGAATAGAAACAACGCCATCTAAAACG TGAAGTGTGTTCAAACTAGAGCCTAATTATTTAACATCTATATAGCACTG AGGAACTGAAAAGCCCTTAGGGGAAAAAAAAATCAAATTTTAATACACTC CCAACACAACAAATGAAGCAGTGAAGGAAAATAAATCTCTTGGTTAGATC AGGCAGTGATGTAATGAGGAAAGTACCAGAATTCTAACACATCCCCAGAG TTATGAAGACCCAAAATATAGCCTTTGATAAATACATCCCCAAGCCCATT TATCTATCCACCACAAGCAACTGTCTCTCTGAAAGAGTCCCAAAATATTT CCTCAGCCCAACAAATTGACAATTTCCCTTCTGTACTTGTGTGTCTCAGA GGGTAAGTCTAGCGGTTGACTTTCTTCATCTTTCTGGCTTATATAATGAT ACTGATTTATACTAAGTAACAATTTGTCCCTCAGGAAAATGAAATATAAC AAGAATGTGGCAGCCAGTTCTCCAGAGTCCCACCCAGATCAATGAAGAGT ATAGCACAGTCCCGACTAGTCAAAGGACTATCAGAGGTCATGTAAGTGCT CTCATCCCTTCTTGGTACAGACAAGAGTTTCCAGTGTCAGACAGTTCTTC TATAGGGACTTCTCCAGGATGCACATTTCCCTAGTAAGTATCCCCAAACA CGTTTTTTTGTTTTTTTCTCCCTTTCTGAATGACTTTTTTTGTTGTTGTT TTTTTCTCCCTAGCATGGCTCTAATGCCATGAATCAGACTTCCTCTGGAC TTACCATGGGACTACTGTATTTCTTGTTTATCTAAAATTAGATACTTAAT GTATCTTTCAGAAAATCAGATAAAATGCCCTTTGGATGGACCCCTGTCTA AATGGGCACAGTAAGAAATGTTATATTCAACTTGTAAAAGATTTGGTTTT ATTAAAATTCATATTTGAACTCCCCAATAAACCAATAATTTATATTCTAT ATTTTGTTACAAGTTATAATGGTTCCAGCTGGGCGTGATGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGTCACCTGAAGTCAGTG AGACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGGCGTGGTGGCAG GTGCCTGTAATCCCAGCTACTCGGGAGGTTGAGGAGAAGAATTGCTTGAA CCAGGGAGGCAGAGGTTGCGGTGAGCCAAGACCACGCCATTGCACTCCAG CCTGGGCAACAAGAGTGAAAATCCGTCTCAAAAAAAAAAAAGAAAAAAAA AAATCTGCCTATCATGGGCTTAAAACTCCAAAGTGAGTTGGGTGTGGTGG CATGAGCCTGTAATCCCAGCCTACTCTTGAGCCCAGGAGTTCAAGACTAG CCTGGGCAACAGAGCAAGATTTCATCTCCAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAACACCCTCCATAGTAATACTGGTCAAAAAAAATT TTGAGTCAGTTATTGCAAATAACTAATATAACTGGGAAAATCTAAAGTTT TTGGTTACAGTTCCTATTTCAGGATGTAAAAGCAACTATTATAAATTAAA CATATAACGATCACATCCAAACATCCCTGTAACAAACCAAGAATTCAGAC TTTATGAGACCAAAAATGACTGTGGAAGCTTACTCAGAAATCAGACAGAC TCATCCATATAATCCATTATATATCTGGACTAAGAAACTGTAGGGAAACT ACATGTTGGAGAAACAGAGAAAGCAACAGAATTGGCCCTTACACATCATA GCTCTTTCTCTTTAGCAACATACCTAAAATCTCTAAGTCAGAAATCTCTC ACTTTAGGCCATTTTCTTTGCTCTAAAGAAATCTCTGGTTTCATTTTATT CAGAAATGAAAAACTTGGAAACAGGTGGGGAAGTAAAAAAAAAAACAGAA ATGAAAAACTTAAAACTAAACAATACATGGGGTAGAGAACTGGTATAAAA GAATCTTTTAAGTGTGGTAATGGGAAACTAGGGAATAG	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	194	0.0052	-2087	c.240 others(16): Show c.240+910_240+2996del	USP54	ENSG00000166348.20	transcript	ENST00000687698.1	protein_coding	4/23			chr10	TogoVar
R3HDM2_chr12_57248764_57436043	57353111	CAGAAAAA others(2077): Show CAGAAAAAACATTGAAACTTTTGATGACTTCAAAATTGAAAACTTCTATA CAATTTTAAAAATTCATAAACAGTTAAAAAATAAGCTACAGACTGCAAGT TTTTTTGTGAAACATACATATAGGACAAATAACTGGTACTTAGTATATAC AAAGAATTACAAACCAAAAAGAAAATGACAAGTAAGTAATTAGAAAACTT GCCAAAGACTAAAAATTAGAAACTCAAATGACTAATAATAAAGATAAATT CATCTTCTCCTAGGAATTAGGAAAATACAAATTAAAACCAAAAATTTCAT GCCACACCCAACAGACCACCAAAAACTTTAAAAAATGTCTTACAATTTCC ATGTACTGATATATCAATAAATTGTTAATTTTATTGTTGAGTTATACACC ATTGAATAGATAAAGCATAATTTATTCATTTATGTGTTGAGGAATATCTG GGTTGTTTCCCATTTATTATTTATTTTTATTTTTTTTAGATATGGGGTCT TGTTATGTTGCTCAAGCTGGCCTCAAACTCTTGGACTCCAGGATCCTCCC ACCTCACCCTCCCGAATAGCTAGGAACTATAGGTGTGTGCCACCATACCC AGCTATTTCCAATTTTTAACTATTACAAATAGAGCAGGTATAAAAAATCA TATATAAATCTTGACATGAACATATGGATTCATTTCTCTTGCATAAAGAC ATAGAGGGAAGAATGGGTGTCTCTTGTGGTAAAAATATGTTTTTTTTATT TTTTTATTTTTTTGAGAAAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGC AGTGGTGCAATCTCGGCTTACTGTAACCTCCACCTCTGGGTTCAAGCAAT TTTCTGATTCAGCCTTCTGAGTAGCTAGGATTACAAGTGCACGCCACCAC ACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGG CCAGGCTGGTCTTGAACTCCTGACCTCTTGAACTCCTGACCTCAGGTGTC TGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCAC GCCTGGTCTAATTTTTTTTTTTAAGTCTGTTTCAAAGTGGTTGTACCATC TTTCTTATCAGTAACATGAGAATTCTAACTGCTCCACAGTCTCATCAACA TTTGGTATGGCCAGACTTTTTGTTTGATGGGTTTTTTTTCTTGTTGTTTT TGAGACAGAGTCTGACTCTGTCACGCAGGCTCGAGTGCGGTGGTGCAATC TCAGTTCATGTAACCTCTGGCTCCCAGGTTCAAGCGATTCTCATGTCTCA GCCTCCAGAGTAGCTGGAACCACAGATGTGGGCCACCATACCCAGCTAAT TTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGAT CTCGAACTCCTGGCCTCAAGTGATTCGCCTGCCTCAGCCTCCCAAAGTGC TGGGATTACAGGAGTGAGCCACTGCACCCTGCCTGCATTTTTTTAATGAG TAATACTGAACATCTTTTCATGTGCTGATTTTTCAACCCTGTATCTTCCC TGGCCGAGTGTTTGTTCACATCTCTTGTCCATTTTTTAATTGGGTTGTCT TCTTATTGATGAATTCTAAGAGTTCTTCATATATTCTACATATGAGTATT TTCTAAAACTTACATTTTCTGCCAGTATGAAACTTGCATTTTCATTTTCT CAACAGTGTCTTTAAAAAAGAATTTTATTTTCGAGACAGGGTCTTGCTCT ATTTCCCAGGTTGGAATGCAGTGGGATGATCACAGCTCACTGCAGCCTCG ACCTCTCAGACTCAAGCGATTCTCCCACCTCAGCCTCCTGAGTAGCTGGG ATTACAGGCATGTGCCACCATGCCAGGCTAGTTTTGTTTTGTTTGTTTGT TTGCTTTTCCTTAGTAGAGTCCGCCTCCACCTCCCACAGTGCTGGGATTA CAGGCATAAGACACCACACCCGGATCTATGATCCATTTTGAGTTAATTTT TTGATGTAAGTTTGAAGGTTTGTTTTTAGTATACGGTTTATCCAATTGTT TAAGAAACACTTCTTGGCCGGGCGCGGTGGCTCAT	C C	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03704.hp2 HG03017.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0003 a0001c0002t0002g0101 a0001c0002t0001g0003 a0001c0002t0002g0101	2	334	0.0060	-2084	c.-36 others(19): Show c.-36+40554_-36+42637del	R3HDM2	ENSG00000179912.21	transcript	ENST00000402412.6	protein_coding	2/23			chr12	TogoVar
DIO1_chr1_53889187_53916086	53901974	CATACCTA others(2076): Show CATACCTAGGATAAAATCCAGATTCTTTACAAAGGCTTATGGGAGCCTGC CTGCTCTGGTCCATCCCTAACACTCCAACCCTTCTCTTGTTGCTCTCTAT GCCGGGTTCCTGCCAGTGGTTTTGTGGGGCCTTGAACACACCAAGTTCTC TCCCTCCTTGGGGACTCTGTGTGAGTCTCTTTGGCTAGAATCCCTTTCTC CCTTTTCCCATGGCTGGTTCTCTCCTGTTTTTCATTTCTCAGGTTAAATG GCAGCTCCTCAAAGGCCTTCCCTGCCCCGCCTGTCTAAAATAGGTAACTC CTTTATAGCCTCTCTCGTAACACTGATCACAATTTGAAACTTCTTCATTT ACGCATTTACTTACTTTTTTTTGCCTGTCTCCCCACTAAGCAGACTTCAA ACTGCACACAGCCAGAGAGCTGCTGGTCTCATTCTCTGCCGAATCCCCAG TGTGTGGCAGGGAGACTTGCATATTTTAAGTGCTGAATAAATATTTGTAG ATAGGATGAGAGTATACTACATTCTGGAGATTCGAGGATGAATGAGGAAC AGGCCCTGCCCTCAGGGGACAATGAGTAGGGGGGTTTGGGGGTATGTGGA CACTTAAACAGGCCATGTCACAGTGCAAGACTAGCCATGCTCCAATAAAT GTATGGTAAGGGCTCAACAATGTCAGCTCTGGCCGTAAGAAACCACAGGA GGCCAGCTGCTCCCCAGAGTTGTCCTTGGTCTAGGATGGGGAGTTACAGA AGGCTTCCACCCAGGGCTGGCTTCATGGACATGGGACCAGTGAATCACAC AGGGACCTACACTCAAAAGGGCCTTGTCCTTGGGATTTAATGTTCTGCAG CAGCTGTCTTGAATTTTTGTTGCTGTTGTTGTTTTTAGCACACCAGAGTT GTAAAGTATGTCTTGAAATTCTTCATAATTTTATCTTTGAATCTGCATTT TGTAAGTGAAACCCTACGGGACAATGGAGCATGCCCTGAGGACTTGGAGC CTCTGCTTGCACAGGCTCCTGCCTTCCACAGCCTCCCTGCCCCTCCAGGA CATGTTCTCTAAGGCCCACTCTCCCATCCCCAGGTGCTCCTTCCTGCTTC CACCCAGTGACTGCTGCCATCTCCTGACCCCAGAGTGGGCCTGGATACAG ACATGAGGAAGGTGGGGGTCAGGTGTCACGTCCCCCAGTGTTGCATGGCA GCTGTCCCCATCCCGGGCTCGCAGTGCCATAGTGCAATTCGCCAAGTGAC TGAGGGTGGGGGAAGCCTCTTGCCCACCCTTTCCCCCATCAAGGTACCTA GTATGTTCCTTACAGAGGTTGCAATACCCTGTGGGTTGGGGTGGTGGGCA GGTGGGAAGGGGCCATGTCTGGCTCAACTTCTGTGATGCTGGGCGGGGCA TGGCATGTTGGTCTGGTGGCTGGAGGGAAAGGGAAATGCACACACACTCG GTCTCTGGGGTGCTGGGTAGCTGTGAGGATCTGCTCTCACTCTATGAATA CCCCAGGGGAGTATGACATCAAATAGCAACTAAAAGACACGATGCCAGGT CAAGAGAGGGACTACAGAAGATTAGAAATGTCTTTGTATTTCAGGCTGGG CACGGTGGCTCAGGCCTGTAATCGCAGCACTTTGGGAGGCCGAGGCCGGC GGATCACTTGAGGTCAGGAGTCTGAGACCAGCCTGGCCAACATAGTGAAA CCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCAC CTGGAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCC CGGAGGCGGAGTTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCT GGGTGAGACTCCATCTCAAAAAAATAAAAAAGAAACGTCTTTATATTTTA ATAAATTTAATGGCACTTTCCCCCACTTTTTGAACAAGGAACCCTGCATT TTCATTTGGCGGCAGGCCCAGCAAATTATGCAGCTGGTCCTGCTCCTAGC ATTCACTCTCTTTGTGGAGCTGCCTTCGGTGCCTCCCTACTTCATAGCTC AGGGAGGAGATACAAGCTCATAGCAACAGCTTAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02055.hp1 HG02615.hp2 others(2): Show HG00642.hp1 HG02055.hp1 HG02615.hp2 HG03471.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0007 a0001c0002t0001 a0001c0002t0004 a0001c0002t0007	a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0004g0060 others(2): Show a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0004g0060 a0001c0002t0004g0062 a0001c0002t0007g0065	5	450	0.0111	-2083	c.338 others(16): Show c.338-2689_338-607del	DIO1	ENSG00000211452.12	transcript	ENST00000361921.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
FAM234A_chr16_229821_271096	244879	ATGGGGTT others(2076): Show ATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGG TGATCTGCCCGCCTCAGCCTCCCAACGTGCTGGGATTACAGGCATGAGCC ATCGCGCTCGACCAATAACTACCATTTCAAATTCCCACGACTATTGTACT GCAGACCTGTTATCGTATATTCTCACCAACACATTTTAAAATGCTTAACT TTTAGGCTGGGCGTGGCCCACACTTTGGGAGGCTGAGGCAGGCAGATCAC TTGGGCCCTGGAGTTTGAGACCAGCCTGGGCAACGTGGCGAAACTCTGTC TCTACAAAAAATACAAAAATTTGCCCGGCGCGGTGATGCACACCTGTGGT CCCAGCTACTTTATAGGCTGAGGTGGGAGAATCTCTCGAACCCAGCAGGA GGAGGTTGCAGTGAGCCTAGATCACCACTGCCCTCCAGCCTGGGCCACAG AGTGAGACCCTGTCTCAAGATCAGATAAAATGAAATGCTTAACTTTTGTT AATGTCATTGGTCCTGCTGTGTCTATGAGTGAGACTGAGTGTGTTTCCCC TGGGCACCGGCCACTGGCGTGTGCTCTTCAGTGAACTGCCCAGTTATGAA TTCGTTTCCTGTTTCCCCACTGGGGTCCTTGCCTTTCTTTTGTGGGTTTG TGAAAACCCTAAGAATATTTATCCTGGTTTGTTTTGTGGAGCTAACAACA ATCTTTTGGCTTCCCTGGGCCACGTTGGAAGAATTGTCTTGGGCCACACA TAAAGTACACTAACACTAATGATAGCTGATGAGCTGAAAAAAAAAAATTG CAAAAAAATCTGTGAATGTTTTAAGAAAGTTTCTGAATTTATGTTAGGCC ACACTTCAAGCCATCCTGGGCCGAGGGTTGGACAAGCTTGGGTTAGACAT TTCATAATATATTTAGTTCATCAGTGTTTTTCTTAATGATTTCCACCTTT GGGGTCATGCGTTCAAGACTTTCCCTAACAATACATAAACATTCTCTTCT ATTTTCTTTTAGTTTAATGTTTGTTAAAAATAATGTTTACATTTTTGGCC AGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCTTAGGTG GGCAGATCACGAGGTCAGCAGTTCTAGACCAGCCTGATCATCATGGTGAA ACCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGCGGTGGTGGGTGTG GTGGTGGGTGCCTATAGTCCCAGCCACTCAGGAGGCTGAGGCAGGAGAAT CGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCATTG TACTCCCGCCTAGGTGACAGAGCAAGATTCTGTCTCAAAAAAATAATAAT AATAATAATAATGTTTACATTTTTAATTCATTTGGAGTTTATCTTGATTG GTGGATTTTTTTTTTTTTTTGTGACGAGGTCTCACTCTCACCCAGGCTGG AGCACAGTGGTGCAGTCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCA AGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGGTGGTGGCTTTTTTTTTTT TTTTTTTTTTTGAGATAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTG GTGCGATCTTGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTAAAGGTGCCCGCCACCACAC CCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGC CAGGATGGTCTCAATCTCCTGACCTTGTGATCCGCCCGCTTTGGCCTCCT AAAGTGCTGGTATTACAGGCGTGAGCCACCATGCCCAGCCAGCTGGTGTT TTTTTTTTTTCGATCGATTGGTGTTTTGTTTTGTTTTGTTTTGTTTTTGT TTTTTTCTTTTTTTGAGATGGGGGTCTTGCTCTGTTGCCCAGGCTGGAGT GCAGTGGCACGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGT GATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGATTATAGGCGCATGCCA CCATACTCATCTAATTTTTTTATTTTAGCAGAGG	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0362 a0001c0001t0007g0362	1	406	0.0025	-2083	c.-13 others(19): Show c.-139-4660_-139-2578del	FAM234A	ENSG00000167930.17	transcript	ENST00000399932.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
FAM149A_chr4_186099704_186180337	186173520	ATTTTTTT others(2075): Show ATTTTTTTTGTATTTTTAGTAGAGGCAGGGTTTCACCATGTTAGCCAGGC CGGTGTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAA GTGCTGGGATTATAGGCGTGAGCTTCCGCGCCTGGCCAGCTGACTCCATT TCTATAGCAATGAGACACATTAGGCAGCAGCAGCAGCAGCAGCAGCAGCG ACCACCAGGTCCATGCCTCTTTTCCGTGGTCACAGCTCCATGTGTCCGGG GAAGATTGCTAATGCTTAGTTTCCTGCACAAAGCAAACCAAAGCATTTTT GAGAATTTTCTACATTATTCCTAAACATTAGCAATAGAAACTTTTAAGAG CAAATGCCAGTCTTAATTCAGCAGCTCTCCCACTTGAGGAATAGTTAGAT ATGTGAGTAGCCTGGAGCCCATGTTATAGGGCTGCTGGTTAGGTGCTCTC TGGTGCATCATTACTGCTCAAAGCATGACCCACTTGCTCTTTCAGATCCA CTCAGGGTATTTTATGTCCATTTCCAGGAACCATCCAACTCCTTCCCTAT TCAGTCCAAACTTCCTTTTTTTTTTTTTTTACTTGAAGTTCAGGGGTACA TGTGCAGGTTGTTACATAGGTAAACTTGTGTCGTGGGAGTTTGTTGTACA GATTATCACCCAGGTATTAAGCCTAGTATCCATTAGTTATTTTTCCTGAT CCTCTCCCTCCTTCCACCCTCCACCCTTTGATAGGCCCTAGTGTGTGCTG TTCCCCTCTGTGTCCATGTGTTCTCATCATTTAGCTCCCACTTAGAAGTG AGAACGGATGGCATTTGTTTTTCTGTTTCTGCATTAGTTTGCTAAGGATA ATGACTTCCAGCTCCAGCCATGCCTCTGCAAAGGACATAATCTCATTCTT TTTTATGAGCTCAAGCTTCGTAGTAGGGAAAACACCGGATATTCAGTCTA AACTAACATTAAGGTAGGGTATCCAAGATAAAATGTTTTTTCTTTGAAAA CCACTGAATATACTTTATGGTAGCTTTACCTTGTTTGGCTCCAGAGGTTT GCAAATAAGAATCTATTATTTATATATATATATTGGTAAAAGACAAAATA TTTTTTAAAAAGTGATCTTGAGTCTTCTAAACATTAAATTGGAAGATAAA GTGCCATTTTAGAGATTACATAGAGACTTGGCCCTGTCATTGATTTTAAA AATGACCTTCTCATTGCACTGATTTTTACTCCATGTTAAAGTTAGTATTT TATTTATACATTAAATTAGATTTAGAGATTAGTAAATAATGCTTATATCA AGGATGGTGCTTTTTAAGCTAATTAGGTAAAAATTAGGGCAGTGTTTTAT AATCTACTTTAATAAATGAGTCTTACCTTAGAATTAATCTATTAAAAATT AAAAAAGAAAAATTGAACTACTTCTGAGATAGATTTTTAAATTCAGATTA GTGAATTTTACACTAATTGAATTACATTAATTAAAATGCCTGTTAGTTTA TCCAAAACCAAAGAAAGAATGAAGAAATTTTAAAACAATCTAAGAAAATG TAAAATACCATAGAAAACTGCTAGATTTTGTGAATTTAATATAAAAGGAA GTATCCATATTGATATTATTCTGAACTAGATGGAATTTCTACACCAATTC AGAAGTACGTTTTTATATATCATTTGGATATTATATTTTTTATTGTTTTA TTATAACTACAGATCATTGTGTAGGATTTTTGATTCCTTAATTTCTAATA AAATATAAAAGTGTTAAAAGAGTTTTCAAAAATGTGTAACATTTATAAAA GTATTTTTAGATTCCCAATTTTTGTATCATTTGTGCAAATATCTCTCTAT TCTGCAGTTTCTAATACATAGGTATTTATTATTTCTAACTACATAGTAAA CTTTCCCCAGTAAATTCTAAGTATATGTCCATATATATTTGCAAAGGCTT TACATAATTTATGAATACTCCGTTGTAATGTTTGTTTCAGAAGATTATGC TCCTGTGTGGTAATCATCATGGATTTGATTTCATCAAACATTTATTAAGC ACTTTCTTGGTGTAAGATTTTGTTCTAAGCATT	A A	splice_region_variant splice_region_variant	LOW	HG01167.hp2 HG01256.hp1 HG01258.hp2 others(21): Show HG01167.hp2 HG01256.hp1 HG01258.hp2 HG01433.hp2 HG01934.hp1 HG01993.hp2 HG02145.hp2 HG02148.hp2 HG02258.hp2 HG02273.hp1 HG02559.hp1 HG02622.hp1 HG02723.hp2 HG02970.hp1 HG03041.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03516.hp2 NA18906.hp1 NA18950.hp2 NA19060.hp2 NA20300.hp1 NA21309.hp2	a0002 a0006 a0007 others(1): Show a0002 a0006 a0007 a0014	a0002c0007 a0006c0009 a0006c0029 others(5): Show a0002c0007 a0006c0009 a0006c0029 a0006c0045 a0006c0059 a0007c0011 a0014c0025 a0014c0058	a0002c0007t0013 a0006c0009t0008 a0006c0009t0013 others(11): Show a0002c0007t0013 a0006c0009t0008 a0006c0009t0013 a0006c0009t0022 a0006c0009t0029 a0006c0009t0032 a0006c0009t0055 a0006c0029t0013 a0006c0029t0022 a0006c0045t0034 a0006c0059t0013 a0007c0011t0008 a0014c0025t0008 a0014c0058t0045	a0002c0007t0013g0269 a0006c0009t0008g0002 a0006c0009t0013g0029 others(20): Show a0002c0007t0013g0269 a0006c0009t0008g0002 a0006c0009t0013g0029 a0006c0009t0013g0226 a0006c0009t0013g0227 a0006c0009t0022g0028 a0006c0009t0029g0304 a0006c0009t0032g0225 a0006c0009t0055g0357 a0006c0029t0013g0258 a0006c0029t0022g0257 a0006c0045t0034g0008 a0006c0059t0013g0316 a0007c0011t0008g0161 a0007c0011t0008g0163 a0007c0011t0008g0165 a0007c0011t0008g0172 a0007c0011t0008g0202 a0007c0011t0008g0203 a0007c0011t0008g0206 a0007c0011t0008g0300 a0014c0025t0008g0026 a0014c0058t0045g0288	24	388	0.0619	-2082	c.15 others(11): Show c.1534_*3615del	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	14/14			chr4	TogoVar
DIABLO_chr12_122202668_122231052	122212905	GTGAGCCA others(2073): Show GTGAGCCACTGCGCCCGGCCATTTTTTTGTTTTTAAGACAGGGTCTTGCT TTGTCAACCAGGCTGGGGTACACTGGCCTGATCATGGCTCACTGCAGCCT CGACCTCCAGGGCCCAAGTGATCCTCTCACCTCAGCCTCCCAAGAAGCTG GGACTACAGGCGCCCATCACCATGCCTGGCTAATTTTTTTGTAGAGACAG GGTTTCATCGTGTTGTCAAGTCTGGTCTCGAACTCCTGAGCTCAAGTGAT CCACCTGCTTAGGCATCCCGAAGTGCTGGGATTACAACAGGTATGAGCCA CTGCACCTGGACCAGATTTTTGGTTAAAAAAGTGAAATCATAAGGCCGTG CACAGTGTCTCATGTCTGTAATCCCAGCAGTTTGAGAGGCCAAGGCGGGT GGATCACTTGAGCTCAGGAGTTCAAGACCAGCCTGGACAACATGGCAAAA TCCTGTCTCTACCGGAAACATATAATCCCAGCTACCTGGGAGACTGACAT GGTAGGATCGCTTGAGCCCAGAGGCTAAGGCTGTAGTAAGCAGTGAGCCA TGATTGTGCCACTGTACTCCAGCCTGGTAACAGAGTAAGACCTTGTCTCA GGGAAAAAAAAAAAAAAAATTCCGTTTACAACTTTGTTAGCCCTTTCTAT GAGTTCTAGGAAAATGTCTACTTTTCTCAAATAATGCTTATACATCCCCT CCTTTTCTCCTTCTAGATATTCTCCTTTTCTCCTTCTAGATATAAGCATA TCCTCCTGTTCACTGCACCTAGAAATCCTCTGCCATGTTTGTGTGGCACA ACTATAATGCTGCTTCCACACTTCCGTTGTTTCATTCTTGTTCCAAATCT CTGATCCCTCAGGATCACTACTTTTTCTCAGGATCACTACTTTTTCTGGG CCAAGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGG CAGGCAGATCACCTGAGATCAGGAATTCAAGACCGGTCTGGCCAACATGG TGAAACTCCGTCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGGCA GGCGCTTCCAAGCCCAACTACTCAGGAGGCAGAGGCAAGAGAATTGCTTG AAGCAGGGAGGTGGAGGTTGCAGTGAGCTGAGTTCACACCACTGCACTCC AGCCTGGGGGATGGAATGAGACTGTCTCAAAAAAACAAACAAACAAAAAA ACTAACAACAACAAAAAAAACCTTCTAAAAGAATTATTTTTTGTTTTTCA GTATGATGACACAACACTTACCTTAAAAAATGTTTTATATCTTTTCTTTG AGATGGGGTCTCACTCTGTTGCACAGGCTGGAGTGCAATGATCTCACCTC ACTGCAACCTCTGCCTCCCAGGCTCAAGTGATCCTCCTATCTTACCCTCC CAAGTAGCTGGGATTGCAGGTGTGAGCCACCACACCCAGCCCTTTGTATC ATTTTTAAGATTTGATGATTGAGAACCCTAGCCTGCTAATCTTGACATCA GAAAACAAGAGTATGTTTTAATATAACAATTTCTTTTTTGAGACAGGGTC TAGCTCTTTTGCCTAGGATGGAGTGCACAGGCATGATCATAGCTCACTGC AGCCTTGAGCTCCTGGGTTCAAGCAATCCTCCCACCTCTGCCTCCCGAGT AGCTGGGACTACAGGCGAGCGCCAATACGCCCAGCTAATTTTTGTATTTT TGGTAGAGATGGGGTTTCACTGTGTTGCCCTTGAACTCCTGGGCTCCAGC AATCTGCCTGCCTTGGCTTCCCAAAGACACGCGTTGAGTCCCTGTGCCTG ACTCATCCCAGTTTCTTTTTTTTTTCTTGAGACAGAGTCTTGCTCTGTCA CCAAGGCTTGAGGTGCAGTGGAGCCATCTAGGCTCACTGCAGCCTCCACC CCCTGGGTTCAAGCCATTCTCCTGCACAGGCGTGTGCCACTACACCTGGC TAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGGTGGCCAGGGT AGTGTCAAACTCTTGACCTCAAGTGACCCACCTCAAGTGATCCGCCCTCC TTGGCCCCCCAAAGTGCTGGGATTATAGGCA	G G	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	378	0.0026	-2080	c.523 others(17): Show c.523+1503_523+3582del	DIABLO	ENSG00000184047.21	transcript	ENST00000464942.7	protein_coding	5/5			chr12	TogoVar
SNTG2_chr2_945849_1372613	1106744	ATGGACAC others(2073): Show ATGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAA GAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGT AAGAGTGGTCACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTG GTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCT TGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTC CTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGC TGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGA GCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGA GAGCTCCTTGATAATAATGGACACGTGCTGTCACTCGGGTGCAGGGTATG GAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTA TGGAGAGCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGG TATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAG GGTATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGC AGGGTATGGAGAGCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGGT GCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGTCACGTGCTGTCACTCGG GTGCAGGGTATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTC GGGTGCAGGGTATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCAC TCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTC ACTCGGGTGCAGGGTATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTG TCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGC TGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAATAGTGGACACGT GCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGACAC GTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGTAATAGTGGAC ACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGG ACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAATAGT GGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGA GTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAA TAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGT AAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTG GTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCT TGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTC CTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGC TCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGA GCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGA GAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATG GAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTA TGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGG TATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAG GGTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGC AGGGTATGGAGAGCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGGT GCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGG GTGCAGGGTATGGAGAGCTGCTTGGTAATAG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp2 HG02572.hp1 HG02647.hp2	a0006 a0010 a0006 a0010	a0006c0010 a0010c0013 a0006c0010 a0010c0013	a0006c0010t0001 a0010c0013t0001 a0006c0010t0001 a0010c0013t0001	a0006c0010t0001g0043 a0010c0013t0001g0042 a0006c0010t0001g0043 a0010c0013t0001g0042	2	169	0.0118	-2080	c.325 others(18): Show c.325+8442_325+10521del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
STXBP1_chr9_127607277_127697699	127619645	CTACGCCC others(2073): Show CTACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCAT ATTGGTCAGGATGATCTTGATCTCTTGACCTTGTGATCCACCTGCCTTGG CCTCCAAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCAATT TTTAGAAAAATTTTTAGTAGAGATGAGGACTCACTATGTTGCCCAGGCTT GTCTTGAACTCCTGAGCTCAAGTGACCCTCCCGTCTCAGCCTCCCAAAGT GCTAAGATTACCTAGAGCCTGTATTCTTAACCTCTCTTCCTTGGTTTTTG ATACTTGAAAATCTTTTTTCCCTAAATTTTTCCAAAAATGTACAGGATCC AAGTGGCAGACAGGTCCTCCGGATTCTATTCCGGGTTCTGCCCCTGACTC ATGGGTGACACTGGGTAAGTCACAACTCTGCCAACAAGACACTGAAACTT GCACTTTCCCTCTACTAATTATTTAATGTACTGCAAATCCTGCTTGACCT TAAGTACAGGAGAAATTTGACTTGTAAAAAGAGATAACTTAGGCCAGGCA CAGTGGCTCACGCCTATAATTCCAGCACTTTGGGAGGCCAAGGTGGGAGA TTCACTTGAGCCCAGGAGTTCAAAACCAGCCTGGGCAATATAGTGAGACC TCGTCTCTACAAAAAATTTAGAAATTAGCCGGCCGGGTGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCTGAGGAGGGTGGATCACCTGAGG TCAGGAGTTGAGAACAGCCTGGCTGACATGGTGAAACCCCGTCTCTACTA ATAATACAAAAATTAGCTGGGTGTGGTGGCACACATCTGTAATTCCAGCT ACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTT GCAGTGAGCTGAGATGGTACCACTGCACTCCAGCCTGGGCAACAGAGTGA GACTCTGTCTCAAAAAAAAAAAAAAAAATTTAACCAGGCATAGTGTCCCC GATCTGTAGTCCCAGCTACTCAGGAGGATTGCTTGAGCCCAGGAAGTCAA GGCTGCAGTGAGCCAAGATCATCCTACTGCACTCCAGCCTGGGAGACAGA GTGAGACTCTGTTTCAAAACAAACAAACAAAAAAAAGGTAACTTTAGGCT GGGCGTGGTGGCTCATGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCA GGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCGACATGGTG AAACCCTGTCTCTACTAATAATACTAAAATTAGCCAGGCATGGTGGCACA CACCTGTAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATTGCTTGAA CCCAGGAGGGGGAGATTGCAGTGAGCAGAGATCATGCCATTGCACTCTAG CCTGGGTGACAAGAGAGAAACTCCATCTCAAAAAAAAAAAAAAAAAAGAG GTAACTATTTGGCAGTGCCTCAAAAAGTTACACATAGAGGGACAGGCACT GTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGCAAAT CACGTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGCGAAACCCT ATCTCTACTAAAAATACAATATATTAGCCGGGCATGGTGGTGCATGCCTG TAATCTCAGTTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGG AGTTGGAGGTTGCAGTGAGCAGAGATTGTGCCATTGCACTCCAGCCTGGG CAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGT TACACATAGAGTTACCATCTGACTCAGCAATACCACTCCAGTGTATATAA TCAAAAGAAATGACAGTATACATCCACACCAAACTCATATACAAATGTCG CAGCAGCATTATTCATAACAGCCAAACAACTCAAATGCCTATCAAGTGAT TAGTAGATGAGCAAAATGTGGCCTATTCATACGATGAAATATTACTCAGC CAAAAGAAGGAATGAAGCACTGACATAGGCATGAAGCACTCACATAGGCT ACAACACAGATGAACCTTGAAAACACGATGA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19043.hp1 HG03225.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0137 a0001c0001t0001g0138	2	298	0.0067	-2080	c.37+ others(15): Show c.37+7207_37+9286del	STXBP1	ENSG00000136854.25	transcript	ENST00000373299.5	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
FAM20A_chr17_68530116_68606367	68567006	TTTTTTCT others(2072): Show TTTTTTCTTTCTCCCTCTAGCCTTGCTTTGGATGTGATTGCATCCACCGC CCTAGCTTCAATGATCACTTGTGTGCAAAGGACTCATAAATTTTTTCTTC CAGCTCTCTCAGCAGTAGACTCATAAATTCCACTGCTCATATCTGTAAAG GACAAGATAGCAAATATTTTAGCCTTGGTGGACCCTATGGTCTCTGTCTC AACTGCCCAAACCTGCTGTTATTGCACGAAAGGGGCCTTAGGCAATCTGT AAACGAACAGGCAAAGCTGTGTTCTAATGCTGCTTTTTTTGTTTGTTTTT ACAAAATCAAGTGGTCATGGGCCAGATTTTGTCTGCAGGCCACAGTTTGC CAACCCCTGCCTTAAAAACATCTACATTCAACATGTTTAAAACTAAACTC TTGATTGTCTCTCTAAGCCTGGGCCTCAGTTGTGGCTTCTGTTCTGCCCA GTGAAGGCCACCTGTCATAGGTCAGGTTCTCCCTGAAGCTGGCCCTGGGC TTTGGGTTTAGGAGCAGGTGATTCATTATGAAGGTGCTCCCTGGAGAAAC CAGTAAGAAAGTGAGGACAGGGGAGGAAGAAGCCAGACAAAGAAGTCCTA GTCTTGGTCTAATCCTTTGGGGAGCTGTTAGGCTTGGTATACCTGAAAGT TTGTCCTGCATTGAAGCAAAGGAGCTGAGCCTTTGTACTCTGATATGGTT TGGTTCTGTGTCCCCACCCAAATCTCATCTCGAATTGTAATCCCCACGTG TCAACGAAGGGACCAGGTCAAGGTGACTGGATCACGGGGGTGGTTTCCCA CATGCTGTTCTCATGATAGTGAGTGAGTTCTCAAGAGAGCTGATGGTTTT AGTGTGGCACTTCCTTGTTCTTGCACTCGCTCCCTCCTGCCACCTTGTGA AGAAGGTACCTGCTTCTCCTTCACCTCCCGCCATGATTATAAGTTTCCTG AGGCTCCCCCGCCATGCGGAACTGTGAGTCAGTTAAACCTCTTTTCTTCT ACATTACTCAGCCTTGGGTATTTCTTTATAGCTGTGCAAAAACGGACTAA TACATACTCTTACTCTGGTCAGTCATTGGCTATGACTGTTCTTGGGGAAA GAGAGAATAGGGGGAGTGTCTGAGTTTACTAAGGCTGCCATAACACATGA CCTCAAACTTGATCATTTAAAATAAAAGAAACGGCTGGGCGCAGTGGCTC ACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCGGATCACGAGG TCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCTAGGCGTGGTGGTGGGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGACATGAACCCGGGAGGTGGAGCT TGCAGTGAGCGGAGATCGCGTCACTGCACTCCAGCCTGGGTGACAGAGCG AGACTCCATCTCTAAAATAAATAAATAAATAAATAAATAAAAATTTTAAA AATAAATAAAAGAAACTTACTGTGTCATACTTCAGGAGGCCAGAAGTGCA CAATCAAGGTATTTTCAAGACTTTATGCTTTCTGGAGACTCTAGGGGAGT TTCACTCTCTAGGGGAGAATCCATTGCTTGTTTCTCTTAGCTTATGGTGG TTCCAGGCATCCCTGGTCTTGTGGCCACATCATGCTAATCTCTGCCTCTG TGGTTACCTTGTTTCTTCCTCTTCTCTTAATTCTTTCCTCTCCTATAAGG ATTCTTGTGCAAGCATTGAGATACCCAGATAATCCAGGTTTATCTCTTCA TCTCAAGATTCTTAACTTAATCATATGGGCAAAGGCCCTTTTTCCATATA AGGTAACATTCAAAGGTTCCAGGGATTTGACGTGGATATATTTTGGGTAG GGGTGGGAGCAGGGGTGGGGAGTTTCTAACAGAATAAAATTCCTAGGCAC TGCCCGATCTTTCTAAGGGTGAGGTAAGTGTCTTAGCCACTAGCCACAAA GCATACAGAAGCTCCCTCCTTTTCAGTCTACCTTGGTCCATCATTAAACA CTACAATTCTGAAAGCTTCTGTTCTGGCTC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03130.hp2 HG02055.hp1 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0197 a0002c0002t0001g0198	2	378	0.0053	-2079	c.405 others(19): Show c.405-13342_405-11264del	FAM20A	ENSG00000108950.12	transcript	ENST00000592554.2	protein_coding	1/10			chr17	TogoVar
SDK1_chr7_3296252_4274000	4118605	GTCTACAC others(2072): Show GTCTACACAAAATCTTGCACATAAATGTTCATAGCAGCTTTATCCATAGT AGCCGAAAAGTGGAAACAACCAAAATATCACTCAGTTGACAAATGGATAA ATAAAATGTGGTCTATGCATTCAATGGATGATTCAGCAATAAAAAGGAAT GGAATTCTGATACATGCTACAGTGTGGGTGAACCTTGAAAACATTAGGCT AAGTGAAAGAGACCAGGCACAAGAGACCACATATTGTGTGATTCTATTTG TAGGAAACATCTAGAATAGGCAAATCTAGAGAGGCAGAAAGTAAATTCAT GGTTTCCTAGACTAAGAGAGAGCATTTGAGAGGAATGGGAAGTGATGGGT GATGGAAACAGAGCTTCTTTTGGGGATGATGAGATGTTCCAAAGTTCATC ATGATGATGGTTACACAACTCTGAATTCACTAAAAAATGTTGAATTGTAC AATTTAGGGGAATTGTATGATATATTAATAATCTCACAATAAGGCTTTAA AAAAAAAGCTCAGCCTTCCTGAGATTAATTTTATACAGATAAAATGTTAT TAAAATAAGTATGGGCTGGGGGCTGTGATTCGTACCTGTAATCCCAACAC TTTGAGAGGCAGAGGCAGGAGGATTACCAGGAGCTTAAGACCAGCCTGGG CAACATAGCAAGACCCCATCTCTACAAAATAAAAATAAAAACTATAGAAA ATTAGCCAGGCATGGTAGCACATGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAACTGCTTCAGCCCAGGAGGTCGAGCCTGCCATGAACTA CGATCATACCCCTGCACTGCAGCCTGGGTGGCAGAGCAAGACCCTGTCTC TAAAAAAAATAATAAGAATGGCTCATAGATTGTACACTTTGCGTATGGTT GGAAGGCCCAGAAAATCTGTGTGTAATATCTTCTTACCCTCAGGGAAAAC AGTGATCAACTCTTCCTGAAATAGTTACATATCATACCCCAATAAAGGAT TTTACTCTCCTCCAAAAATAAAACAAAAAGAAAATACACAAAAAACTAAA GAAACATGGTTTCAGGCCAGACCATCTGGGCAATCAACAGAAGCAAAAAT GATTCCTCTCTGGAGAGATATTGCCAAAGCCAAATTATCCAAAATAAAAA GCCTTTTTAAAGATGAATCACAATTGTCAAGCACACAGGCAATGATTTGC CATGAGTAAAAATGACCAGTTTTAAAAAAAGAGAGAAAGATAGAGGGCTT CAATTACATTAACATACATACAAGTCTGAGAGAAATATATAATAACTACA TTTAAAATTATTAAAGTCTTAGTAAAATAAAGCGTTAACATTTTAAGTAA AGATTAAGGTACCATTTCTTAAAGCAGATTTGTTTTTAGAAAAAATAAAT GGGACACAGTCATTGAAAATGAAAGCAGTTTAGACACTGTCAAAAAGAGA ATTACCAAATTAAAAGCTAGATTTGAGTAAATAACTCTTAAAACAACATA AAGACATAAGATTGAAAATAGAGATTAAAAGACTTGAAGAACAGAATGAG ATCTACCACATAGCTAATAGGACTCGAAAGAGGAAGCAAATGAGAGTTAC AAAATACACAGAGATAATAGCCGAGAAATTCCAGGGTTGATGGAAAGCAT TATTTACAAGACTGAAGAAACACCAATCCCGAGTGGAGTAAATAAAACTG AATTCATACCAAGATGTATTTGCTACAACTGTAAAATGCCAAAGAGAAAA ATCTTAAAAACAATTGGAGTGAAAGGCAAATAATCACAAAGGCAAGACCA TTTGACTGAGGTGACTATTCAGGAACAACAGAGGCCAGAAGACAATGGGA TAATAATCTCGAAGGAGCTAAAAGCAAATAACTGCCAACCTCAAATTTTA TACCCAGATAAACTAATCTTCCAGGATTTTATTCAGAAAACAGCAAAGTA AATGCTATATAAAAATGAAGACAATTTAATCAAAATAGATATATTGTTTT GATAATTTTTCAAATAATACTCTTTTTTTTGAGGTGGAGTCTCACTCTGT CACCTGGGCTGGAGTGCAGTGGCATGATCT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02451.hp1 HG02602.hp1 others(6): Show HG01167.hp2 HG02451.hp1 HG02602.hp1 HG02735.hp2 HG02738.hp2 HG02886.hp1 HG03098.hp2 NA19030.hp2 NA20129.hp1	a0001 a0002 a0011 others(2): Show a0001 a0002 a0011 a0018 a0033	a0001c0005 a0001c0037 a0001c0038 others(5): Show a0001c0005 a0001c0037 a0001c0038 a0001c0039 a0002c0043 a0011c0021 a0018c0024 a0033c0051	a0001c0005t0001 a0001c0005t0051 a0001c0037t0002 others(6): Show a0001c0005t0001 a0001c0005t0051 a0001c0037t0002 a0001c0038t0013 a0001c0039t0050 a0002c0043t0035 a0011c0021t0073 a0018c0024t0061 a0033c0051t0062	a0001c0005t0001g0025 a0001c0005t0051g0030 a0001c0037t0002g0077 others(6): Show a0001c0005t0001g0025 a0001c0005t0051g0030 a0001c0037t0002g0077 a0001c0038t0013g0038 a0001c0039t0050g0022 a0002c0043t0035g0079 a0011c0021t0073g0007 a0018c0024t0061g0013 a0033c0051t0062g0019	9	116	0.0776	-2079	c.382 others(19): Show c.3823+4333_3823+6411del	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	25/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
RIPK1_chr6_3063494_3120187	3090743	TGCACCTA others(2070): Show TGCACCTAATAACCGCAGCGCACCTACCTGCCGCACCTAGTAACCGCAGA GCGCCTACCTGCCGCACCTAGTAACCGCAGCGCACCTACCTGCCGCACCT AGTAACCGCAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTA CCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACC GCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCG CACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGC GCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAG TAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACC TGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGC AGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCA CCTAGTAACCGCAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGC CTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTA ACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTG CCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAG CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCT ACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAAC CGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTAC CTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCG CAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCG CCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGT AACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCT GCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCA GCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCAC CTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCC TACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTCGGAA CCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGC CGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGA GCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCT CGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTA CCTGCCGCACCTCGGAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACC GCAGCGCGCCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTACCTGCCG CACCTCGGAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACCGCAGCGC GCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAG TAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACC TGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGC AGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCA CCTAGTAACCGCAGCGCGCCTACCTGCC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0129 a0001c0001t0007g0129	1	310	0.0032	-2077	c.915 others(17): Show c.915+1094_915+3170del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
DOCK8_chr9_209865_470255	320188	TCAGAGAT others(2067): Show TCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCC AGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCGGACCGAACACTCAC GGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGAC CGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCT CAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAG ATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTC TGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAA AGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACA CTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAAC CTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCT GGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGAC CAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCA GGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACG GAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACC GAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCTC AAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGA TGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCT GTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAA GCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACAC TCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACC TGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTG GGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATC AGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAG GTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGG AAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGACCG AACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCTCA AAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGAT GGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTG TGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAG CCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACT CACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCT GACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGG GCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCA GAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGG TTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGA AAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGA ACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAA AACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATG GCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGT GACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGC CCAGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTC ACGGAAAAAGCCCAGGTTCTGTGAC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03041.hp1 HG06807.hp1 HG02896.hp1 HG03041.hp1 HG06807.hp1	a0003 a0023 a0003 a0023	a0003c0134 a0003c0135 a0023c0101 a0003c0134 a0003c0135 a0023c0101	a0003c0134t0001 a0003c0135t0001 a0023c0101t0004 a0003c0134t0001 a0003c0135t0001 a0023c0101t0004	a0003c0134t0001g0217 a0003c0135t0001g0173 a0023c0101t0004g0054 a0003c0134t0001g0217 a0003c0135t0001g0173 a0023c0101t0004g0054	3	254	0.0118	-2074	c.827 others(17): Show c.827+3145_828-3325del	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
CSMD1_chr8_2930361_4999914	4265367	TTTGACAT others(2066): Show TTTGACATGTTACAATTAGTAAACAGTTAATGCACCATATTCAGAGTTCT TCAAAGCCAGTTGAAAAAGTGTCCTCTAACTTAATTTGACCTCGACTGTT ATTGGTAAAAATAAATATTGGAACCTGTTTCAAAAATAGCAAAATTTAAT AGTACAATTTAAAAATTATTTATTTACAAATTCTATTCATATACTCCTAT GTTTTATGCTATATTTTATGGAATACAAAACAAGGATAATTATTAAAAAT AATGAGATTAAAAACAAATATATTAGGGAAAAATTCTGTCAGCATTTTGA TAAATGATCTGGCTCTGAACAGTATTATTTGACATGTTACGATTAGGAAA CAGTTAATGCAACATAAAATGTTTGAAAACTTTAAATAGAGCAAGTCAGT GCTCAAGTTTCCCTAATGTGATGTTGACTTTTATAAACTCTCACCATTTA CCTATCAACTTGGTTACCCTAAAAGCCAGCTATTTCTATAGGTCCATGGT GTCCCCACAGATAAAGATTCCCACACAAATCCAAAATAAAATGTGAAGAA ATAGATTTCCCCCCATTGCCCAGGAGACGGGGAACCATGGCCCCCACTGT ATTCCATGCCTACTTTGTGTGCGTTTGGGCTGTGTAAGTCATCCCAAACC GGCCCACCGCACTCAGGCTCGCCCGGCATATTAGCTGATACTGATCACCT GCCCACCGCACATAGACTCACCAGGCATATTAGCTGATATTGATCATTTG GAACTGACTTAAAACCACCTTTTTACTTCAGCTACTCATCTACCACCAAA AACCCAGTGTTATTCACCAAGTTGGAGGTTTTTTACGTTATTTTTTCTAA GTGGAATGGTAACACATTTCCATACAACTCATTTAAAAATTTAATACCAA AGAAAATTTTATAAATTTTTGTTTTCTATGTAAGAGAAACTGTCCAGGTC TTAGAAACAGTTGATTTTGGAGAAAAACAAACACAACTTTTTAATATTTT CAAGAATATATTTGAAAATATTAATATAGTTCATTTTATGTGTAATAATG TGATTTCATTATAATATGTTAGGTTATATTGATGATTGGTTAGATAGAAG CCAAGGATAAAATTTATAACTCTGTCAAAGTATTCACTAAATTTTAAAAA GTAGAACAATTTCATACTCATGCCTCATATCCTTCCTTCAGAAAAACAAT TTTAAACAAGTACACCATACAGGTATGTCCCCACTAATGGCGTAAAGTGA CCTGTCCTGCAGTTGAACATTTTTATTTGTCATCTATGAACATTGATATA ACTTGAAAAATACATTATCAAAGAATTATACTTAGTTTTATACATTATAC AAAAATTCTAATTTTTTGTCTAATAAAAATTTGATGATCTATAAATCCTC AAAATAGTAGCACAGAGAATCTAGATGAAAACTTAAATAGTGGATTGTGA TGACTTTTCATTTACTGCAAAAATAAAAATATGATTCAATATTTGAAAAC ATATTAATTCAACGTGTTAAGATGGAAGAAGAAACAAACTGATTAATAAA AACCAAATGACATTTAGTAAAATATCTATTATTGAATAAAATTAACAATT TTGGAACTTAAGAAGATAAAAATCACTTTTGTGATTTTTACAAAACAAAA GCATAAAACCTAGTAATGTAACAGAAACCATTCCTGTTAAAGAGACAAGA ATAGAGTGTCTGTTTACTTCAATGTTATTTTTTTTTGAAAGTGCTTTCTA ATGCAATTAGTTGGGAGAATTAAATAAGTATAATTATTTGAAACAGTGAA GATAATATTCATTAATTCCAAAAAATGCACAACAAAAGAATCCATTAACA ACAGTTATTAAAGAAAAGTGAGTTCAATGAAGTTGCTACTTAGAAAATAT ATCATGTTTTAATATGTATTAGCTATAACCATTTAGAAAATATAATTTAA AAATTATAAAATAGCAATTAGGATGAAAAAGTAACAATAAGAGTTTAAAA GGGAGTCTTAGGATTAACTATGAACTCTGAAAGATCTATGTGAAGAAAAT GATAAGCTTCTACAGCAGAGTAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00735.hp2 others(31): Show HG00099.hp1 HG00099.hp2 HG00735.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01123.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02257.hp1 HG02280.hp1 HG02615.hp2 HG02683.hp1 HG03017.hp1 HG03209.hp1 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18971.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA19074.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0008 a0009 a0012 a0013 a0015 a0036 a0039	a0001c0001 a0001c0002 a0001c0003 others(29): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0020 a0001c0021 a0001c0047 a0001c0049 a0001c0059 a0001c0061 a0001c0071 a0001c0073 a0001c0085 a0001c0108 a0002c0012 a0002c0031 a0002c0053 a0002c0076 a0002c0091 a0003c0056 a0003c0086 a0003c0087 a0004c0057 a0008c0088 a0009c0097 a0012c0011 a0013c0018 a0015c0063 a0036c0095 a0039c0010	a0001c0001t0002 a0001c0001t0038 a0001c0002t0061 others(30): Show a0001c0001t0002 a0001c0001t0038 a0001c0002t0061 a0001c0003t0008 a0001c0004t0063 a0001c0005t0006 a0001c0006t0002 a0001c0020t0018 a0001c0021t0005 a0001c0047t0012 a0001c0049t0002 a0001c0059t0001 a0001c0061t0001 a0001c0071t0067 a0001c0073t0006 a0001c0085t0020 a0001c0108t0054 a0002c0012t0016 a0002c0031t0015 a0002c0053t0022 a0002c0076t0039 a0002c0091t0002 a0003c0056t0062 a0003c0086t0002 a0003c0087t0001 a0004c0057t0080 a0008c0088t0076 a0009c0097t0017 a0012c0011t0072 a0013c0018t0058 a0015c0063t0010 a0036c0095t0002 a0039c0010t0068	a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0038g0017 others(31): Show a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0038g0017 a0001c0002t0061g0069 a0001c0003t0008g0053 a0001c0004t0063g0095 a0001c0005t0006g0070 a0001c0006t0002g0109 a0001c0020t0018g0065 a0001c0021t0005g0012 a0001c0047t0012g0024 a0001c0049t0002g0071 a0001c0059t0001g0036 a0001c0061t0001g0021 a0001c0071t0067g0115 a0001c0073t0006g0108 a0001c0085t0020g0060 a0001c0108t0054g0074 a0002c0012t0016g0088 a0002c0031t0015g0001 a0002c0053t0022g0041 a0002c0076t0039g0014 a0002c0091t0002g0114 a0003c0056t0062g0072 a0003c0086t0002g0118 a0003c0087t0001g0022 a0004c0057t0080g0075 a0008c0088t0076g0057 a0009c0097t0017g0089 a0012c0011t0072g0101 a0013c0018t0058g0068 a0015c0063t0010g0045 a0036c0095t0002g0124 a0039c0010t0068g0084	34	126	0.2698	-2073	c.415 others(21): Show c.415+152513_415+154585del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
PRKCZ_chr1_2045411_2190395	2121830	GTGGTAGT others(2065): Show GTGGTAGTTAGGTTCATGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCAC GGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGCTGTAGTTAGCG TCATGGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGTGGTGGTT AGGGTCACGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTAGT TAGGTTCATGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCACGGTGGTAG TTAGGGTCGTGGTGGTTAGGGTCATGGTGGTGGTTAGGGTCACGGTGGTG GTTAGGGTCGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGTGGTTAG GGTTGTGGTGGTTAGGGTGGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGG TCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGTGGTTAGG GTCACGGTGGTGGTTAGGGTCACGGTGGTAGGGTCGTGGTGGTTAGGGTC GTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGT CACGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGGGT CGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGG TTGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGG GTCATGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTTAG GGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCACGGTGGTGGTTA GGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGG GTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGT GGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGG TGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTG GCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGT GGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCA CGGCGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTGGTTAGG GTCACGGTGGTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGTTC ATGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGT CACGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGTTA GGGTCACGGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGTGGTA GTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGGGTCGTGGTGGTT AGGGTCGTGGCGGTGGTTAGGTTCATGGTGGTGGTTAGGGTCGTGGTGGT TAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCATGGTGG TGGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTTGTGGTG GTTAGGGTCGTGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTTGTGGT GGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGG TTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTG GTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGTAGT TAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCACGGCGG TGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCACG GCGGTGGTTAGGGTCACGGTGGTAGTTAGGGTGGTGGTGGTTAGGGTCAC GGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGG TCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGCGGTGGTTAGG GTCACGGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGCGGTTAG GGTCACGGCGGCGGTTAGGGTCA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0225 a0001c0002t0001g0225	1	256	0.0039	-2072	c.335 others(19): Show c.335-13431_335-11360del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
ARSB_chr5_78772209_78990310	78813976	AACAGTCT others(2064): Show AACAGTCTCCAATAAAAACACTTAGATAATAATCCATTTGGAAAGAATGA GCTCCAAATATGGATTTTATGAGTAAACAAAGGTTCTGTATTGCAAAAGT TAATAGACTGTCTTCACATTTAATTTCATGACCACTTCCTCTGTTTGACT CTTCTGTGGCATAGCTTGAGATGTCTGCAAGCCCTGCTACTTCTGAAGGA AAATATACAGAGCAAAAAGACATGCTGTTAATCAAAGACTCTGGCATCTG AATTTAATAATCAGATGCCATTTGGAGTCTATACAGTTTTTCAATAGTGT AACACACAAATCAGTCAGCACATACATTTCAATAGTGATTAATCTCTTTT TACATGCACATCTGCGATCCCTTATGAAATAGTCTTAAAAGCAACCTAAT AAGAAAGGAGAAAGAACCTGTGGGTCAAAAAGGATCATCATGAAGCCAAG AGATGTTGAGTCAGTCTTTCCCTAAGTCTCTCACCACATAAAGCTACTGC GCCTTTATTTACATATTTTTCCCAACTGAAATGGTCTCTCCTCTCTTTTA AAGGCCCACTCTTTTTTTTGAAGTCTTCAGGGAATTCCATGTAGGAACAT TCTTCCTCTTCCCACCTAATATGTCACTGGTTCATCATTTTCTCTGTTAC TCACTTGCTTCTGTAGCACCCACTGTTGGGTGTTGTTCGTTATCTTTATG TATGTCTACCTCCTGTTCCCTAACTCAGTTATACGGTCTTACAGGACAAA GAACTATGGATTATATGCTTTCCATGTCTACAGCAAGCTTCCTCAAAGTG TGGTCCTTGAATCACCAGAAATTCCTTGGATGTTTGATCAAAATATAGCT GAGAGATCCTGAAGCTGCATGAAGGGAGGGCCTAGGAAGCTGCATTTTCA GCATGCTGCCCAGGTGACTTTAATTCACATCAAGGATTGAGGACCCCTGT ATACAAGGACTAAGAGAGTGCTATGAATAGAATGGGTACCAAGAAGTATT TGTTGAATATATAAGGGCACACAAAGTAAAAAAAACCCCAAACTAAAACA ACAAAACCAACCAAACAAACAAAAAACAATGTGCAAAGTTAAAGGCGTTG GGATTATTTAGTCTTGTGCCTGTAAGTTTAATCACAACCCAATTATCGAA AAGATTATTGAAGTTGACTGTAGTAAAGCATTATTTTAAAGAGATTGCTT ATTTTCTAGTCGCATGGTTGCTGAATAAGGCAAACGATCTCCCCTAAACT CCTAATTAGAAGATCATAATGGTCATCTCCTTTCCCCTTCTCCACCCTTC CCTGTTGACCTTCCCCAAGAATCCTTTCCTTGGCTTTCCTTCTTGTCTCT ATTGCTTTTTCCCTGCTTTTTTCTATGAGACTGACTGCTTTTCACTCATC TCACTGTGGCTTGCAGCTTCAAGAACAGAAGAGAGCAGGCCACAAAGACA AATTAGAACAAGACACCCCTCTCTGTGCCAGAAAGTGTGACTTGGCAAAT GGAGGACAGGCTGTGCCCCTGTGCAGTTAGCAACCTGTGAAACTGTATGT GGCAGCCTGTCAAAAAAGGTGGAGGAAAGCATCTGGGCCTACATTTTCCT GAAGATGGCTTTTCAAAATTTCTGTTTTTAGCTGACTTCACTCTTCTCTA TATGCTATTAGGTAATAAGAAAAGTTCCAAACATTATTCACTGGGATGCT CAAAAGTAAGCTACATGTGCCATATTACTGTAAGACAAGTATAAAGGGCT TGCATTTTATTTCCACAAGGAATGAATAAAGGGAAAGGAATTTACTTTTG GGAAAAGGTAACACAAAGAACTTTGGTCTATGAAGGACACAAATGAATTC TCATCTTCAAAGATATTTTGAAATAATATAAGAAATGACCCATCTGTGGT AGTTTATGGTTGATCTAAGTAAGACAGCCTCCTGGGGCCCCTTCTTTCTT GGAGAAGGCACTTTTCCTATGATGCCAGGTTCCTAGTTCCCGCCTCTTCT GCCACTTCTGCAGGAGCCACCCGAGGCCTTGAGGGGCCCTTTCAGAACCT TGGGTCTGAAGTCATTTCTTAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00738.hp2 others(14): Show HG00099.hp1 HG00140.hp2 HG00738.hp2 HG01070.hp1 HG01109.hp2 HG01884.hp2 HG02040.hp2 HG02109.hp1 HG02698.hp1 HG02809.hp1 HG03130.hp2 HG03471.hp1 HG03471.hp2 HG04184.hp1 NA18972.hp1 NA19066.hp2 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0018 others(3): Show a0001c0001 a0001c0003 a0001c0018 a0002c0002 a0002c0011 a0003c0004	a0001c0001t0003 a0001c0001t0007 a0001c0001t0031 others(10): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0031 a0001c0001t0065 a0001c0003t0002 a0001c0003t0009 a0001c0003t0012 a0001c0003t0022 a0001c0018t0002 a0002c0002t0001 a0002c0002t0023 a0002c0011t0053 a0003c0004t0023	a0001c0001t0003g0019 a0001c0001t0007g0202 a0001c0001t0031g0324 others(14): Show a0001c0001t0003g0019 a0001c0001t0007g0202 a0001c0001t0031g0324 a0001c0001t0065g0014 a0001c0003t0002g0073 a0001c0003t0002g0081 a0001c0003t0009g0281 a0001c0003t0012g0112 a0001c0003t0022g0124 a0001c0018t0002g0013 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0249 a0002c0002t0023g0253 a0002c0011t0053g0002 a0003c0004t0023g0239 a0003c0004t0023g0242	17	358	0.0475	-2071	c.121 others(21): Show c.1213+23309_1213+25379del	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	6/7			chr5	TogoVar
CFAP92_chr3_128904873_128999076	128944223	GCACCTGG others(2064): Show GCACCTGGCCTGTTTTCACTTTTTGACTATTATACATAATGCTGCTGTGA ACATGTGTGTACAAGCTCTTGTGTGGACATATGTTTTCACTTCTCCTGGG CTTATAATAGATACAAGGCCAGCTTCTCCCGGTGCCTCTGGGCCCATCAG CACAGGAAGGCAGGTCTCCCAGAGGTGCAATCCCCTTCTGGGCAGACAGC CTCAACTCCGGGACTCCCCACTGCATCCAAGTGGGTCCTGGGGCATCTGA ACTCTGAGGACAGATGGGGGCCCTCCAGACTAAAGGACGGAGATCCGATC TACCCAAACTAGTATACTTGCAAATTGTGAAAGGAAGGGAGAGGTGTCAT GTCACCAAAACTAAAAAATGGAGGAACTGCAAAGGGCTACCCGCTGCAGC CCAGAATTGGACACTTTAATTATTCACTTCTAGTGTTCCCACTGAGTGGC CCCCAGGTACCCTGAAGGCCTTCAGGGAAGGGCAATTTCCTGCAGCCTAA GCAGCCCCTCCATCTTCAAAATGATCTTCCCTGGGGCAAGGTGAAATCTA ATACAGAATATTCTGCTCCTGTTTAGCCACAGTAGCCCTTGGCTCAGAAC CCTGAAGACAGGCCCCACTCTCCTGGACCCCTCAGTCATCTTAGATACTC CCGAATTCCTCCCTGGAACCAAAGCCAATCGAGTCTTCAAGTCCAATGAC TAAACCCTGGTAAGTACCTCACAATGAACCCCGAAAGGAGACTCACAGAC AAGGATGCTAAACCTAGGCTTGGCTCTGAAAGACCTCTCCACTCCCTCGG CATCCAGATGCCATCATTTTTATGTAAAATGTAAAACAAACCACCTACCA GCTTTGGTGGTTCTCCCACAGCTGCCTCAAGCCTTGGTCGGCCAGGCCTT CCAGGATGAAAAGGTGTGTCTTCCCGTCCAGCAGGTGGAAGCCAGTGAGC ACATCCAGGTGCTGCTGCTCCTGGACCCGCACACGCACCTTGAAGGCTGA CAGGATCTGCTGCAGGGTCCTGACAGGGTAGGAGTCCAGGCCGAGGGCCT TAGCGTTGATCATGGTGATGTCCTGCAGCAGGCTGTGGAGCAGGGAGACC TTCTTAAAGTCAAAGACGAAGATGATGCGGCCAAACTGGGAGCCCCCAAG GTCAGGATCAGCAGCTCTGGCCCCGGCCCTCAGTGGCACCGCGATGTCCA CTCGCAACTTGAGCTGGGAGTCAGCCTCTAGGTAGTTGCCCCTGGGCATT GGGCCGTGCTGGTGGCCATCTCTGGGGACCCCAAGCCCCACAACCTTCCT TCTCCTGCTGTCCTGGCCGCAGTGTGTGGGCTGAACCTCACAGCTGTGGA TGGGGACGGCCAGATTCAAGTACTTGTGGCCAAGGAGGAGGTCAGCAAAA CTGACCTGGGCGATGCCATAAGGGTACCACATCTTGTTCTGGGACTCAAA GGGGTTGTTCTCTGTCTCTCTGGGAGAGATGAGGGCCTGGAAGTTGAGGT ATGAATCCAGAGGGTCCTCCCCAAACAGCACGGGCTTCTGAGAACACTCC TCTGACTTGCGGTCCCGGTCGTGAACTTCCACCACCATGGGGGGGCCCTC CAGGTATTCCCTTAGGTCACTGGGGTGCAGTGCCCCAAGGAAGATGACGT TGATGTCCTGGAAATAAACGTGGGTTCCATGGGGCTCCCCCTTGGTCTTG TGAACTGGAGTCTTATGGAACTGGTACTTGCAGTACACAGGCATGCACAG CCTCTACGAGAGAGCAGGGCCACAGCAGGTCACCCAGCCACAAGGACAGT CACTCAGCCCCAGCATGAGGAGCTCAAATCCCAGTGCCAGGCTCATTGCC TGTCCCTGTAGCCCAAGTTTTCTCATCCACAAAATATCCATAAGAGACAC TACTGTGCAAGGTCATTACTAGGACTGCAGACATCATGCATGTGAACGCA CCAGGATGGCGACTGGCATGAAACAAGGACTCAAAAAGCATTCGTTACTT ATTTTCCTCCCAAAATGTGAGTGCCATGAAGATAGGCCATGTGTCCTTTT TCATACCTGTACTTCTAGTTCC	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG03239.hp2 HG03239.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0001 a0012c0018t0001	a0012c0018t0001g0296 a0012c0018t0001g0296	1	340	0.0029	-2071	c.135 others(17): Show c.1354-319_2258+847del	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	10/16			chr3	TogoVar
ZNF563_chr19_12312477_12338633	12313393	CCTCAATT others(2064): Show CCTCAATTATGTTTATGAATGTTGTGAAGTAGAAATTAATATTACCCCTT CAAATAAACAGGAAGGTGTTAGCATACCACACGGGTCCAAAGTGAGTATG GTTCAGATTGGGAACAAAGCTGTGTGGCAGTAGCTGACCTAAGCCTGGGA TCAAATCTAAAGGTTGCCTGAGAGAAACAGGGACTGCGTAGGAACAGGTC TTCCATGAACACAGGAAAATGAACAAACTTAGTGCTGCAGACAAGGAGGA ATGTGGCCCAGCGCTGCTTGGTAAGTTCATGGTCCAAGGGAGTCTTTGCA CTTCTGTGGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACCCCTGTC GCCCAGGCTGGAGTGCAGTGGCAGGATCTTGGCTCACTGCAAGCTCTGCC TCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCTAGTAGCTGGGACT ACATGCACCTGCCACCACGCCCGGCTAATTTTTTGTATTCTTTTAGTAGA GACGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCATGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCAC CGCACCCGGCCCACTTCTGTGGCTTCCCCCCCCCGCCATTTTCTCATGGT GCCAAAATTCACATAAGATAGAATTTACCTTGGCTGGGCACGGTGACTCA CACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGAGGATCACGGGGT TCGAGACCAACCTGACCAATATGGAGAAACCCTGTCTCTACTAAAAATAC AAAATTAGCTGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGA GGCTGAGGAAGAAGAAATCACTTGAACCTGGGAGGCAGAGATTGTGGTGA GCCAAGATAGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCC ATCTCAAAAAAAAAAAAAAAGATCTACAGGAAGGAGTTTCAGGCCAGCAA GGTCTGGCTTAGCTAGCTACACAATGCATTAGAGCTTCAAGAACTTGAAG AACATGGGAGAATTGGCCTTGGCTGATGCAAAGGAAACATCAGCATTCCT AGAAAAGCTCATGAAACTCATTAAAAAAAAAAAAAAAAAAGAGGCTAACT TCCAGAGCAAATCCTCCATTGTAATGAATCAGGCATGTTCTGGAAGAGGA TGCCCAATTGTACCTTCATCACAAGAGTACAAAGAAAGCCTTGGGGTTCA TGACTTGGAAAGATTGCCTTACTCTGGTGCTACGTGGCAATGCAGCAGGT CATAAGATCAAACAAAGCCTCCTCTACTAAGTAAACAATCCGTGGGTCCT TGAAAACAAAAGCGAAACTTGCCTGCCCGTGTCCTGACAAAAACACACGA GGACTTGGTTCTACCACTGCTTCATTCCTGATGTGAATGAATACCTTGAA AAGAAGGGGCTGCCACTCAAGGCCCTCCTCATAACTGACAACGCTCCTGG CATCTCTCTTCTCTCTGTTATGCCGATAAAAATGGGGAAGTGATGTTCCT GCCTCCTAAAACTACATCACTGCTACAACTACTTGATCAAAGCATCATCA AGTGCCTCAAGGTGTCTTACACCCACTGGACTTTTGGAAGGATTTATGCT GTCTTGATAATAACCCTCACCATGTCATACAGGATTTATGGAAGAGCTTC CCAACTGCAGAAACGATTGTGTTTATTGCGGAGGCTGTAAATGCCCTACA GCTCAAGACAGCCAAAGTGTGTTGGAAGCCATTATGGAGTGAGGAAGTCA ATGATTTCAGGCGCTTCTGCACTATCGATATGATAGTCAGAAATATCTTA AATGTAAGGAAAGTTGGTGGGGAAGGCTATCTCTGACACAAGTGAAGACA ATGTTGAGGAACACACAGAAGAGCAAAGAAGAAACCTTTACTAACAAGGA ACTAGAAGATATGCTGAAATCCTCTATAGATGATGATGATGATGATGTAG ATTTAGAAGAGGCAGTGCCGCCAGGCGTGGTGGCTCACGCCTGTAATCCC AACAGTTTGGGAGGCCGAAGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18963.hp2 NA19001.hp1 NA18951.hp1 NA18963.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0138 a0001c0001t0002g0039 a0001c0001t0002g0138	3	366	0.0082	-2071	c.31 others(11): Show c.3130_*5200del	ZNF563	ENSG00000188868.14	transcript	ENST00000293725.10	protein_coding		4083		chr19	TogoVar
USP6NL_chr10_11455510_11616650	11478400	GAAGAAAA others(2062): Show GAAGAAAACAAACCTCAACGACTGTAAAATAAAAGCTTTTACTTAGAAAA ACTCAATTTTTAAAATATCAATTTTCTCTCAAAAATCCTTAATGTCAGTG CAATCTCAATATTAATAAAATACTGTATCTGAATACCACTAAAATACTAG TGGATTCTTTTTTGTAACTTGACAAAATAATATAAAATAATGAGGGGACA TTTGCCCTAATAGATATGCAAAGTGTAACTGGAGGCCGGATACTCCTGTT ATCCTAGCACTTTGGGAGGCTGAGGTGGGCAGATTGCTTGAGTCCAGGAG TCTGAGACCAGCCTGGGCAACATGGCAGAACCCTGCCTCTACAAAAAATA CTAAAATTACCCAGGAGTGGTGGCATGCACCTGTAGTCCCAGCTACCTGG GGAGACTGAGGTGGGAGGATCACTTGAGCCGGGGAGGTCAAGGCTGCACT GAGCCATGATTGAGCCATCACACTCCAGCCTAGGCAACAGAGTGAGACCC TGTCTCATGTTTAAAAAGTGTAACTGGAAAAGCAGAGAGCAATGGAACAG AATAGAGTGCCAAAATGTAATGTAATAAATGCCACTAATCCACATGACTA ATGGTTTGGAAAATAAGCAGAGCTGAGTTCTTATTCCATAACAAAAAGTA AATTCTAGATGAGCTGAAGATTTCATCATACTCAATTATATCTCAATGAA GTTGTACCCATAAGCACTGAAAACATATAAATGTTAGAAGAGAAATATGG GTACTTAAGAAAAAACACTTCATCCAGCATGTGGAAAATTCTTTACAAAA AACACAAAAGCAAGAAGCCATAGGGAAAGCTGTATGGAAGGTGTCTGCAA CACATAATAAACTGGCTAGCCTCCTTAACAAGAACCTGTATGAACAGACC AATAGAAAAATGGGCAACAGATGAACAGGGAAGTTCACAGAAAAAGAAAG AAGGGTGCCCCAAAGATATCTAAGAAAGATACTCAAAGAACTACCAATCA GAACAACAATGGAAGACTCTATCCAATCAGTAAACATTTTAAAATGTAAC AGCACCATGTTTTCATGTGGGCCTAGGAAAACAGGCCTCATTGCACATGA CTCGGGGGAGTTCACACTGCCACATTATGTAAGGAGTCAAAAGGAAGTGG CATGTTCATGTAGGTGTTTTTTTTTTTTTTGGTTTTTTTTTTTTGAGTCG GAGTCTCACTTTGTCGCCCAGGTTGGAGCGCAGTGACGCGATCTCAGCTC ACTGAAAGCTCCACCTCCCGGGTTCATGCCATTCTCCTGCCTCAACTTCC CGAGTAACTGGGACTACAGGGGCCTGCCACTATGCCCGACTAATTTGTTG TATTTTTAGTAGAAACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGGT CTCCTGACCTCGTGATCTGCCCTCCTCGGCCTCCTGAAGTGCTGGGATTA CAGGGGTGAGCCACTGTGCCCAGCCTCATGGAGGTTTTTAAAAGGACAGA TGTGACATGGAATTTTCTTGGTATGAGGTTCATTTAATTATCTTAGTGTT CCATATACAGTTCACAACAATTTAAAAAGAATGACAGGCAGGCGATGAAA GGCAGATGGTCGTGCTAGAAAACGCAGAGATGCCTAATCCATTCTACCTT CACTGCCAGTATGATCAGAGCATGATTCTGCTATCATTTATTCCTCCCCT TTTCTCCCCTGCCCCATTCTCTGTCCCCATTCTATCATTTCCTGGTAAAA CGATCTTACAGACTACTGCTACTAGGTTTCCCTATCTGCACAATGTAGAT GAGCACTTTTATGAGTTATTTTTAGAGATTAAATGAGACGGCACCTGTGG TACGTGGCACACAGTAAACACCCAATAAATATTAGCTGCTAATTAGATGC TAAGTCACCACCATCGCAATCCATGACACAGGTTTTGAATTATCTCACGT TTAAATAGTTCTATATTTTTTCCTCTATATTTGACTTTTACTAAAATTTG CCTTGACCTCTTTTTATAGAAGGAGGCAAGGTATTTAAAAATAAATGATA GTAGAATAAAATAAATAAAA	G G	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18994.hp2 NA18986.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0049 a0001c0001t0002g0030 a0001c0001t0002g0049	2	400	0.0050	-2069	c.107 others(19): Show c.1078+1301_1078+3369del	USP6NL	ENSG00000148429.15	transcript	ENST00000609104.6	protein_coding	14/14			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1235544	CTCTCCCT others(2061): Show CTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCT CTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCT GCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGC CTCCCGGTGTTTACTCCCTGTGTCCTGGTGTTACTCCCCTGCTTTCAGGT GATCCACCCGCCTGGGCCCCCCAAAGAGCTGGGATTACAGGCGAGAGCCA CCACACTGGGCCCCACCATGATCTTTTAACAAGCCAATTTTTCCCACTGC TGTTCGCCCACATCTATCTGTCTACACACCTGTGATTCTGTGGATTTGCC AGTGCTGCTCATGGCCATACCTCACAGTGGACTGTGGGTTTGACGTAGCC TGAGTGGGCAGCTTGTGTGTGATTAAAAGGAGGAAAAGAGCTGTAGGAAG GCCTGGGCTCCGTCACCAGCACAGGTGGGAGTGGAGAACCGTGGCGAAAC GGCTTTCCTTCTGCATCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCC AGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCACCAGCTG TGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTG AACGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGTCTCCCGG TGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTG TTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTT CACTCCCCCCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTA CTCCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCAGCCATGACC CAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCT GTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTC TGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCATTTCCTTCTTCG GTGTTTACCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTT TACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTA CTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACT CCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCC CCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCC CTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCT CTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCT GCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGC CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCT CCCGGTGTTTACTCCCCTCTGCCTCCGGTGGTTAATTCCCTCTTGCCTCC GGTGGTTAACTCCCCCCTGCCTCCGGTTGTTAACTCCCCCCTGCCTCCGG GTGTTAACTCCCCTCTCCCTCCGGGTGTTAACTCCCCCCTGCCTCCGGGT GTTAACTCCCCTCTCCCTCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTT TACTCCCCTCTGCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTT ACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTAC TCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTC CCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCT CTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCCT GCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGC CTCCCGGTGTTTACTCCCA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0005 a0001c0001t0015g0005	1	105	0.0095	-2068	c.136 others(19): Show c.1362-3767_1362-1700del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
RPTOR_chr17_80539838_80971368	80722496	AGCCGGAG others(2059): Show AGCCGGAGACCTGGGGAGAGAGTGTGTGTTTGAGGGGAGACGGCGCATAG ATGTCAGGTGGGGCAGGAATGGAAGAGACCATGGGATGCAGCATGTGAAG AGGTGACTATGTGTTCAGTAATTTCTGGAGAGCAGTTAGGATCAAAACTA GGTTTGCATTTTTAAAAAACAATTTGAAATAATTTTAAATGTACACGAGA GTTGCAGAGGCAGCACAGAGAGTTCCTGTGTGTCCTTCATCCAGCTACCC AGTGTCAACCTCTTACATGACCTCAGCACAGCGATCAAATCTAGGAAACA TATGTTGTTACAGCACTGCCAACCACACACAGCCTCCTTGGTGCCAGCAG CCTTGCCGCTGTAATCCTCTGTATGTCTTGTGGTCCAGCCCAGGCCCCCA CCCACATTGGCTGCCTTGTCCTCTGGTCCTCCCAGCCTGGGATGGTTCCT CAGCTGTTCTTGTCTTTCATGACCATGACATTGTAAGATGCTGCTCAGGT GTTTTGGAGGATGTCCCTCACTTTGGGTTTGTCTGATGTGTTCTCATGAT GAGATTGAGGATCAAAGTTTTGGGAAGAATAATGCAGATGGGTTATTCTC AGTGCATCAGGTTTGGGGGTGCGTGGTGTGTGTGATTCTTATTACTGCAG ATACCAACCTTGATCACTAGGCTGAAGTGGTGCCTTGTGTGTTTCTCCAA TGTGAAGTTGTTATTTTCTTTATAATTCATAAGCATTTGAAGGAGATACT TTGAGAGTATGCAGATATCCTGTTTCTCCTTAAACTGCCATGCCCTAATT CTAACATTCATGTGTAATTACTATCCTGGTGTTCTAATGGTGGTGCTGTA CCTCCCTATTTCCTTCCACGTTTAGTAACTGGAATTCTTCTGTATGAAAG AATTGTTGCTTCTCTTGTTGTTTATTTACTTGGTTGTTTGTTTATATCCA TATGGAGCCACTAATATTTATTTTACTTCTTGGGTTATAATCCATTATTA TTATCATTATTTATTTTGTTACTGAAATTGTTTCAACTTTGACCACTGAC ACACCTTCTAGCATTTTCTCTACCACAGCCCTGGATCAACCATTTTTCCA AGGATCTTTGGCTTTTTTGAGAGTGGGATTTAGAAACCAAGATGTGGCCT CTTTGTGTGCTCGTTACTACTGGAGCATTAGTGTTACTAGGCCTAGGCCC TCTCCGTGGACTTAGCTAAGTGATGCATTTGTGTGTAGTAAGCTGTAAAC ACATGCATATTGATTTGCGTATCTATGTACAGGTGTGGAAACTAGATTTT AATGACTAAACAGGAGGTAAGGGACTAGGGACTGGAATAGACTAATCTTT CCAGAAGTTTGGTGATACTACTGAATAACACTGTTTTTTCTAGCTTTCTC TGTAATACAATTTTTGCAATAAATACATAGAGAGCATGTGATTAGAGGAG CCTGTCTGTTGGGGAGACCTCGAAGAAAGAACAAGGCTAAGCAGGGATGT TTAGTTTCTGCAAGAGGTAACTTATGTTTGTAGATAGGAGAAAGGGGGTT GCTGAAGAAAGTATAAATCAGTGGAGTAAAGGATGAGAAATGGGAAGGTA TGAGAAGATTAATTCAGGACAGAGATACAGCATTTGACTTGGCAAGCCCA AGCACTCTTCTCTGAGACGTGGGAGGGAAGGAGAGGTGAATACAAATGTG GTGGAGCTTTGAAGCTGGACATGAGAGCTGGTTCCCCTTGGAGCCTGTCT CCTGTTAAGTGAGAAGCCAGGCCATGTCCTGAGAGGTGGGGGCCATGAGT GCCAGGATGGAAGGGTCAGGAGAGAGGAGACATGGCAACCCACCCCTTCC TCATGTTTACTGCCTGGCATAGTTGGCATTTTTCTTTATGTTGAGGAAAA TGCTGCTATGATCTGATTAGTAGGTGCTAAATACCCCAGTTTGTATAAAG TAGGATGGTATCTTTGCAGGGCTAATGAAATGGCCAAATCAGGTTTGGGT AAGGCCACCTGGAGATCCATGTCCTTCAGCTGATGGCAGTCTTCCTGTGT ATCCCAGCTATCCACAG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02922.hp1 HG03516.hp1 HG02630.hp2 HG02922.hp1 HG03516.hp1	a0001 a0001	a0001c0005 a0001c0009 a0001c0021 a0001c0005 a0001c0009 a0001c0021	a0001c0005t0083 a0001c0009t0005 a0001c0021t0065 a0001c0005t0083 a0001c0009t0005 a0001c0021t0065	a0001c0005t0083g0017 a0001c0009t0005g0143 a0001c0021t0065g0112 a0001c0005t0083g0017 a0001c0009t0005g0143 a0001c0021t0065g0112	3	194	0.0155	-2066	c.508 others(17): Show c.508-8063_508-5998del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	4/33			chr17	TogoVar
AMN1_chr12_31666142_31734021	31675060	ATGCTCAT others(2058): Show ATGCTCATTCAACCAACTAGGAATAGAAGATAACTTCCTCAACCTGATAA AGGGCGTCTATGAAAAACCCATAGATGGCAGGATGCAGTGGCTCATGTCT GTAATCCCAGCATTTTGGGAGGCCAAGGCGGGAGGATCACTTGAGCCCAG GAGTTCAAGACCAGCCTGGGAAATATAGTGAGACCCTGTCTCTGCGAAAG AAATTTAAAAATTAGCTGAGTGTGGTGGCACATGCCTGTAGTCCCAATTA CTTGGGAGGCTGAGGTAGGAGGATCCAATTGAGCCTGGGAGGCAGAGGTT GCAGTGAGTGTGTTCACACCACTGCACTCCAGCCTGAGCAACAGAGCAAG ACCCTGTCTCAAAAACAAACAAGAAAAACCTATAGCTAATAGTGAAAAAT TAAATGTTTTCTCCCTAGGATCAAGACAAGGATATCCACACTTTTTTTTT TTTTTGAGACAGAGTCTCACCCTTTGCCCAGGCTGGAGTTCAATGATGTG ATCTTGGCTCACTGCAACCCTGGCTTCCAGGCTCAAGTGATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCAACCACGCCCAGCT AATTTTTTGTATTTTTAGTGGAGACGGGGTTTAACCATGCTGGCCAGGCT GGTCTTGAACTCCTGACCTCAGCAGTTTGAGACCTGATCCACCTGCCTTG GCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTTACCCGCCAGG ATGTCCACTCTTGCCATTTCTATCCAACATAGAAATGGCATGTACCAGAG GTTCCAGCCATGGAAATTAGGCAAGAAAAAGAAAAGGCATTCAGGTTAGA AGGAAGAAGTAAAACTATCTATTTGTAGATGTTATACTGTGTATACAATA TCCCAAGGAATTCACTAAAAAAATAGAATAAATGAGTTCAGCAAGGTACA AGAACAATATATAAAAATCAAATGTATTTCTATACATCAACAATGAATAA TCCAAAAATGAACTAGAAAATAACTCCATTTATGTTACCATCAAAAAGAA TAGAATACTTAGGAATAAATCAAATGAAAGTGAAAAACTTATACTCTGAA AACTATAAGACTTTATTGAAAGAAATTAAAGACCTAAATAAAGAAATCCA AACCAGAAGGCTTAATATTATTAAGATAGCAATATTTCCCAAATTACCTA TAGATTCAATGAAATTCATATCAAAATACAAGCTGGCTTTTTATTTTTTG CAGAAATCAATAAGATGGGGCCTGGTAAGGTGGCTCACACCTGTAATCTC AGCACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGTTCAGGAGTTTGA GACTAGCCTGGGCAACATGGCGAAACCCCGTCTCTACTAAAAATGCAAAA ATTAGCCAGAATTTGGCCCCCCCAGCTAATTTTTTTGTATTTTTAGTAGA GATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCTGCCCGCCTTGGCCTCCCAAAGTGCTGCAATTACAGGTGTGAGCCA CCGCGCCTGGCCAACACTTCCCAATTTCATTTTAGCTGGTGTGTCTACAA TCATTTTGGCATTTTTCCAAGTTGTGAATATGTTATCAAACATATATAAA ATTTGTCTTCTGTCTACATTTGTCACTATTCTGTTTTGAATTCACTATTG CACATTATAGGAAGATGCTTTTCCCTCCAATAGTAAGCATGTAACATTTT TATGTAATTAAAAATTTTTGATGCCAGATGGCAGTGTTATATTACAGTCT CCTTAGGCAGCTTCTTCCCATGAAGATAGAGTATTTAGGACTGTGGGTTT AAATAAGAATATTCAATGCCTTTATTATGCTACAGGGAAAAACTATGGGG TCGCTAAGTATTTCATAATCTCTTGGCAGAACATTTTATAGAAACACATA CTCTCTTGGCCGGGCGCGGCGGCTCACACCTGTAATCCCAGCACTTTGGG AGGACGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACTATCCTGGCT AACATGGTGAAACCCC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02615.hp2 HG02895.hp2 others(1): Show HG02559.hp2 HG02615.hp2 HG02895.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0007 a0001c0002t0001 a0001c0002t0007	a0001c0002t0001g0273 a0001c0002t0001g0321 a0001c0002t0007g0274 others(1): Show a0001c0002t0001g0273 a0001c0002t0001g0321 a0001c0002t0007g0274 a0001c0002t0007g0275	4	430	0.0093	-2065	c.704 others(17): Show c.704-4748_704-2684del	AMN1	ENSG00000151743.11	transcript	ENST00000281471.11	protein_coding	6/6			chr12	TogoVar
ETFBKMT_chr12_31654688_31678114	31675060	ATGCTCAT others(2058): Show ATGCTCATTCAACCAACTAGGAATAGAAGATAACTTCCTCAACCTGATAA AGGGCGTCTATGAAAAACCCATAGATGGCAGGATGCAGTGGCTCATGTCT GTAATCCCAGCATTTTGGGAGGCCAAGGCGGGAGGATCACTTGAGCCCAG GAGTTCAAGACCAGCCTGGGAAATATAGTGAGACCCTGTCTCTGCGAAAG AAATTTAAAAATTAGCTGAGTGTGGTGGCACATGCCTGTAGTCCCAATTA CTTGGGAGGCTGAGGTAGGAGGATCCAATTGAGCCTGGGAGGCAGAGGTT GCAGTGAGTGTGTTCACACCACTGCACTCCAGCCTGAGCAACAGAGCAAG ACCCTGTCTCAAAAACAAACAAGAAAAACCTATAGCTAATAGTGAAAAAT TAAATGTTTTCTCCCTAGGATCAAGACAAGGATATCCACACTTTTTTTTT TTTTTGAGACAGAGTCTCACCCTTTGCCCAGGCTGGAGTTCAATGATGTG ATCTTGGCTCACTGCAACCCTGGCTTCCAGGCTCAAGTGATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCAACCACGCCCAGCT AATTTTTTGTATTTTTAGTGGAGACGGGGTTTAACCATGCTGGCCAGGCT GGTCTTGAACTCCTGACCTCAGCAGTTTGAGACCTGATCCACCTGCCTTG GCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTTACCCGCCAGG ATGTCCACTCTTGCCATTTCTATCCAACATAGAAATGGCATGTACCAGAG GTTCCAGCCATGGAAATTAGGCAAGAAAAAGAAAAGGCATTCAGGTTAGA AGGAAGAAGTAAAACTATCTATTTGTAGATGTTATACTGTGTATACAATA TCCCAAGGAATTCACTAAAAAAATAGAATAAATGAGTTCAGCAAGGTACA AGAACAATATATAAAAATCAAATGTATTTCTATACATCAACAATGAATAA TCCAAAAATGAACTAGAAAATAACTCCATTTATGTTACCATCAAAAAGAA TAGAATACTTAGGAATAAATCAAATGAAAGTGAAAAACTTATACTCTGAA AACTATAAGACTTTATTGAAAGAAATTAAAGACCTAAATAAAGAAATCCA AACCAGAAGGCTTAATATTATTAAGATAGCAATATTTCCCAAATTACCTA TAGATTCAATGAAATTCATATCAAAATACAAGCTGGCTTTTTATTTTTTG CAGAAATCAATAAGATGGGGCCTGGTAAGGTGGCTCACACCTGTAATCTC AGCACTTTGGGAGGCCAAGGCAGGTGGATCGCTTGAGTTCAGGAGTTTGA GACTAGCCTGGGCAACATGGCGAAACCCCGTCTCTACTAAAAATGCAAAA ATTAGCCAGAATTTGGCCCCCCCAGCTAATTTTTTTGTATTTTTAGTAGA GATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCTGCCCGCCTTGGCCTCCCAAAGTGCTGCAATTACAGGTGTGAGCCA CCGCGCCTGGCCAACACTTCCCAATTTCATTTTAGCTGGTGTGTCTACAA TCATTTTGGCATTTTTCCAAGTTGTGAATATGTTATCAAACATATATAAA ATTTGTCTTCTGTCTACATTTGTCACTATTCTGTTTTGAATTCACTATTG CACATTATAGGAAGATGCTTTTCCCTCCAATAGTAAGCATGTAACATTTT TATGTAATTAAAAATTTTTGATGCCAGATGGCAGTGTTATATTACAGTCT CCTTAGGCAGCTTCTTCCCATGAAGATAGAGTATTTAGGACTGTGGGTTT AAATAAGAATATTCAATGCCTTTATTATGCTACAGGGAAAAACTATGGGG TCGCTAAGTATTTCATAATCTCTTGGCAGAACATTTTATAGAAACACATA CTCTCTTGGCCGGGCGCGGCGGCTCACACCTGTAATCCCAGCACTTTGGG AGGACGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACTATCCTGGCT AACATGGTGAAACCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02615.hp2 HG02895.hp2 others(1): Show HG02559.hp2 HG02615.hp2 HG02895.hp2 HG03579.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0023 a0003c0003t0024 a0003c0003t0023 a0003c0003t0024	a0003c0003t0023g0084 a0003c0003t0023g0096 a0003c0003t0024g0068 others(1): Show a0003c0003t0023g0084 a0003c0003t0023g0096 a0003c0003t0024g0068 a0003c0003t0024g0071	4	450	0.0089	-2065	c.70 others(11): Show c.7071_*9135del	ETFBKMT	ENSG00000139160.13	transcript	ENST00000357721.3	protein_coding		1947		chr12	TogoVar
STK33_chr11_8386870_8599228	8422993	ACCATGCC others(2058): Show ACCATGCCCGGCTGATTTTTTAAATTTTTTGTAGGGACAGGGTCTCACTA TGTTGTCCAGGCTTGTCTCAAACTCCTGGACTCAAGCAATCCACCCGCCT TGGCCTCCCAAAGTGCTAGGATTATAGCCATGAGCCACCATGCCCAGCCT GTTTTCTGTTTCTTTCTTAATTTCACCAAAGATTTATTTATTTTGTTTTT TTTTCAAAGAACCAAATATTGACCTTGTTGATCTTTTCTATTCTACCTTT GTGTTCTATTTAGTTGATTTTCGCTCTTAGTTTGATCTTTCCTACTACTT TATTTGGTTTTACTCTGTTAAAATTCTGAAATTTTTAGATATCATTAATT TTCTGTATTTCTCCTTCTCTAATATAAATATTAAACTTCTACTGAAGTAC ATGTTTGCTGTATCCTCCAAGTTTTGGTATGTTGTATTTTCATTATCACT CAGTTCTAGGAATTTAAATTTTTTCTTATTGGGGTTTATTCTTTAACTTA TGAGTTGTTTAGAAGCATGTGATTTATTTTCCAGGTATATGCAGATATTT AATCTTGTTGTTTACTGGCTTTTAACTGCGTATTATTAGAGAACATGATC TGTGTTAACTTTATTAAGGCTTCCTTGCTTCACGGCCTAGGACAAGACCA ATTTTGGTAAATATTCCACATGTGCTTGAGAACATGTACATTCTCTAATT AGAGAACTGTGTATGTGTCTACTAGAATAAGCTTGTCATATTATTAAAAT CATCCATATATTTTTGTTTCTTTGTTTCATATATCAGTAGTTGAGAGAAG TGCATTACAATCTCCTACTATAATGGATTTGCCAATTTCTCCATGCAATG TTGTCAATTTTTGATATATATTTAAGGTTATTTTATTAGTTGCATACATT ATTAAAATTACTATATAATCTTTTTGAGTTGAATCTTTAATCCTTATAAA GTGACCTTCTCTATCCCTTAATGATGATTTGTTTGTGTTAAGGTATATAT ATATTTTTATTATACTTTAAGTTTTAGGGTACATGTGCACATTGTGCAGG TTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAAC TCATCATTTAACATTAGGCATATCTCCTAATGCTATCCCTCCCCCCTCCC CCAACCCCACAACAGGCCCCGGTGTGTGATGTTCCCCTTCCTGTGTCCTA GTGTTCTCATTGTTCAGTTCCCACCTATGAGTGAGAACATGCGGTGTTTG GCTTTTTGTCCTTGCGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCAT CCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGT ATTCCATGGTGTATATGTACCTCATTTTCTTAATCCAGTCTATCATTGTT GGACATCTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCACAAT AAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTTTG GGTATATACCCAGTAATGGGATTGCTGGGTCAAATGGTAATTCTAATTCT AGATCCCTGAGGAATCATCACACTGACTTCCACAATGGTTGAACTAGTTT ACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCC AGCACCTGTTGTTTCCTGACTTTTTAATGATCGCCATTCTAACTGGTGTG AGATGGTATCTCATTGTGGTTTTGATTCACATTTCTCTGATGGCCAGTGA TGATGAGCATTTTTTCACGTGTCTTTTGGCTGCATAAATGTCTTCTTTTG AGAAGTGTCCGTTCATATCCTTTGCCCACTTTTTGATGGGGTTGTTTTTT TCTTGTAAATTTGTTTGAGTTCATTATAGATTCTGGATATTAGCCCTTTG TCAGATGAGTAGATTGCAAAAATTTTCTCCCATTCTGTAGGTTGCCTGTT CACTCTGAGGGTAGTTTCTTTTGCTGCCCAGAAGCTCTTCAGTTTAATTA GATCCCATTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTA GACATGAAGTCCTTGC	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0183 a0001c0002t0001g0184	2	332	0.0060	-2065	c.114 others(20): Show c.1146+10436_1147-9302del	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	14/15			chr11	TogoVar
DPH7_chr9_137549444_137583925	137565308	ACTGTCTG others(2057): Show ACTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCGGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGG TGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCT CCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGG GGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGA AGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGG GGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGA AGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAG CTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG03130.hp2 HG03225.hp2 HG00423.hp1 HG03130.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0174 a0001c0001t0001g0195 a0001c0006t0001g0177 a0001c0001t0001g0174 a0001c0001t0001g0195 a0001c0006t0001g0177	3	275	0.0109	-2064	c.641 others(16): Show c.641-2218_641-155del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
FAM149A_chr4_186099704_186180337	186173611	CCTCCCAA others(2057): Show CCTCCCAAAGTGCTGGGATTATAGGCGTGAGCTTCCGCGCCTGGCCAGCT GACTCCATTTCTATAGCAATGAGACACATTAGGCAGCAGCAGCAGCAGCA GCAGCAGCGACCACCAGGTCCATGCCTCTTTTCCGTGGTCACAGCTCCAT GTGTCCGGGGAAGATTGCTAATGCTTAGTTTCCTGCACAAAGCAAACCAA AGCATTTTTGAGAATTTTCTACATTATTCCTAAACATTAGCAATAGAAAC TTTTAAGAGCAAATGCCAGTCTTAATTCAGCAGCTCTCCCACTTGAGGAA TAGTTAGATATGTGAGTAGCCTGGAGCCCATGTTATAGGGCTGCTGGTTA GGTGCTCTCTGGTGCATCATTACTGCTCAAAGCATGACCCACTTGCTCTT TCAGATCCACTCAGGGTATTTTATGTCCATTTCCAGGAACCATCCAACTC CTTCCCTATTCAGTCCAAACTTCCTTTTTTTTTTTTTTTACTTGAAGTTC AGGGGTACATGTGCAGGTTGTTACATAGGTAAACTTGTGTCGTGGGAGTT TGTTGTACAGATTATCACCCAGGTATTAAGCCTAGTATCCATTAGTTATT TTTCCTGATCCTCTCCCTCCTTCCACCCTCCACCCTTTGATAGGCCCTAG TGTGTGCTGTTCCCCTCTGTGTCCATGTGTTCTCATCATTTAGCTCCCAC TTAGAAGTGAGAACGGATGGCATTTGTTTTTCTGTTTCTGCATTAGTTTG CTAAGGATAATGACTTCCAGCTCCAGCCATGCCTCTGCAAAGGACATAAT CTCATTCTTTTTTATGAGCTCAAGCTTCGTAGTAGGGAAAACACCGGATA TTCAGTCTAAACTAACATTAAGGTAGGGTATCCAAGATAAAATGTTTTTT CTTTGAAAACCACTGAATATACTTTATGGTAGCTTTACCTTGTTTGGCTC CAGAGGTTTGCAAATAAGAATCTATTATTTATATATATATATTGGTAAAA GACAAAATATTTTTTAAAAAGTGATCTTGAGTCTTCTAAACATTAAATTG GAAGATAAAGTGCCATTTTAGAGATTACATAGAGACTTGGCCCTGTCATT GATTTTAAAAATGACCTTCTCATTGCACTGATTTTTACTCCATGTTAAAG TTAGTATTTTATTTATACATTAAATTAGATTTAGAGATTAGTAAATAATG CTTATATCAAGGATGGTGCTTTTTAAGCTAATTAGGTAAAAATTAGGGCA GTGTTTTATAATCTACTTTAATAAATGAGTCTTACCTTAGAATTAATCTA TTAAAAATTAAAAAAGAAAAATTGAACTACTTCTGAGATAGATTTTTAAA TTCAGATTAGTGAATTTTACACTAATTGAATTACATTAATTAAAATGCCT GTTAGTTTATCCAAAACCAAAGAAAGAATGAAGAAATTTTAAAACAATCT AAGAAAATGTAAAATACCATAGAAAACTGCTAGATTTTGTGAATTTAATA TAAAAGGAAGTATCCATATTGATATTATTCTGAACTAGATGGAATTTCTA CACCAATTCAGAAGTACGTTTTTATATATCATTTGGATATTATATTTTTT ATTGTTTTATTATAACTACAGATCATTGTGTAGGATTTTTGATTCCTTAA TTTCTAATAAAATATAAAAGTGTTAAAAGAGTTTTCAAAAATGTGTAACA TTTATAAAAGTATTTTTAGATTCCCAATTTTTGTATCATTTGTGCAAATA TCTCTCTATTCTGCAGTTTCTAATACATAGGTATTTATTATTTCTAACTA CATAGTAAACTTTCCCCAGTAAATTCTAAGTATATGTCCATATATATTTG CAAAGGCTTTACATAATTTATGAATACTCCGTTGTAATGTTTGTTTCAGA AGATTATGCTCCTGTGTGGTAATCATCATGGATTTGATTTCATCAAACAT TTATTAAGCACTTTCTTGGTGTAAGATTTTGTTCTAAGCATTATAGTGAA CAAGACAGTCTTTGGCCTAAAAGAACTTAGATTGTAGTGGAGGCGACAGA CTATAAACAATTAAA	C C	splice_region_variant splice_region_variant	LOW	NA18970.hp2 NA18970.hp2	a0006 a0006	a0006c0023 a0006c0023	a0006c0023t0003 a0006c0023t0003	a0006c0023t0003g0128 a0006c0023t0003g0128	1	290	0.0034	-2064	c.16 others(11): Show c.1625_*3688del	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	14/14			chr4	TogoVar
SLC66A2_chr18_79897420_79956653	79919548	ACAGGAAC others(2057): Show ACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAG GGAGAGGTCAAGGTCAGTGGAGGAGAGACAGGAACCGAGGGAGAGGTCAA GGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGA GAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACC GAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTC AAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGA GGAGAGACAGGAACCGAGTGAGAGGTCAGGGTCAGTGAGGAGAGACAGGA ACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAG GTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGT GGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACA GGAACCGAGTGAGAGGTCAAGGTCAGTGGAGGAGAGACAGGAACCGAGGG AGAGGTCAAGGTCAGTGGGGAGAGACGGAACCGAGGGAGAGGTCAGGGTC AGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGAGGAGAG ACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGAACCGAGG GAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGG TCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGA GACGGGAACCGAGGGAGAGGTCAAGGTCAGTGGAGGAGAGACAGGAACCG AGGGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCA AGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGG AGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAAC CGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGT CAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTG AGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGG AACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGGGAGA GGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCA GTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGAC AGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGG AGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGG TCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAG AGACAGGAACCGAGGGAGAGGTCAAGCTCAGTGAGGAGAGACAGGAACCG AGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCA AGCTCAGTGGGGAGAGATGGAACCGAGTGAGAGGTCAAGGTCAGTGGGGA GAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACGGGAAC CGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGT CAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGTGA GGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGG AACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGA GGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAG TGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGAC AGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGG AGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGC TCAGTGAGGAGAGAC	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0009 a0001c0001t0014g0009	1	223	0.0045	-2064	c.392 others(16): Show c.392-2212_392-149del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79919549	CAGGAACC others(2057): Show CAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGG GAGAGGTCAAGGTCAGTGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAG GTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAG AGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCG AGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCA AGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAG GAGAGACAGGAACCGAGTGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAA CCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGG TCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGTG GAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAG GAACCGAGTGAGAGGTCAAGGTCAGTGGAGGAGAGACAGGAACCGAGGGA GAGGTCAAGGTCAGTGGGGAGAGACGGAACCGAGGGAGAGGTCAGGGTCA GTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGAGGAGAGA CAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGAACCGAGGG AGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGT CAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAG ACGGGAACCGAGGGAGAGGTCAAGGTCAGTGGAGGAGAGACAGGAACCGA GGGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAA GGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGA GAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACC GAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTC AGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGA GGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGA ACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAG GTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAG TGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACA GGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGA GAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGT CAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGA GACAGGAACCGAGGGAGAGGTCAAGCTCAGTGAGGAGAGACAGGAACCGA GGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAA GCTCAGTGGGGAGAGATGGAACCGAGTGAGAGGTCAAGGTCAGTGGGGAG AGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACGGGAACC GAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTC AAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGTGAG GAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGA ACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAG GTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGT GAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACA GGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGA GAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGCT CAGTGAGGAGAGACA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0009 a0001c0001t0014g0009	1	325	0.0031	-2064	c.392 others(16): Show c.392-2213_392-150del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
LBP_chr20_38341482_38382013	38379951	AAGAGTGA others(2055): Show AAGAGTGATAGGTGTGCTGAAAAGAGCCAGTATTGATTCCAGCCTACCTG TTTTGGGTCCCTGGGCAAGGTATCTCCAAGCCTCAGTGTCCTCTCCTGTC AAATGAGGCTGGGAAGAGCTCTTGGCGGGATTATTTTGGAAATTGATGGG TTCAGGTTAAGCTTCCGTGGGTGCCCAGAGAATAACCAGGTGGTGGTCAA TGGATGACACAATTAGATCACCTGTCATACTTGGTGTCCCCAGAAGCAGA CCCTGAAGAAAAGAGGTGAGTACAAGTATGACGGTGTTGCAAAAGTAATT GTGGTTTTTGCTGTTACTTTCTTTTTTTTTTTTTTTGAGGTAGAGTCTAG CTCTGTCGCTCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGACTCAGCCTCCTGAGTAGC TGGGACTACAGGTGCCTGCCACCACGCCCAGCTAATTTTTTGCATTTTTA GTAAAGGCAGGGTTTCACCATGTTAGCCAGGTTGGTCTTGATCTCCTGAC CTCATGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCTGGCCTGACTCCCAGTCTTTTCTCCAGTTAATCTTTCC TGGGTTTTTGATGAGATTCCTAGGAAGGGGGTCTTAAGATAATTGCATTT CTTTTGGAAAGAAGTTTTCTTATTCAGAGAAGGAAATTCCAGACAGAGTC CCTTCTGGTGCTTCAGGAAAGAGGATCAGAGAGCTAAGGAGGTGAGGGAA GATCAGAGGGAGACCTTGAGTCTGCTTTTTTAGTTCAGCATATCAATGTG CCATATATTGGCGTATTGTTTTCCGAGCCCCAACAGTGTTATATCTCGAT GGGGTAGTACAGGACAACACAGCTGGCCCTAGAGTCCCATAGCAGGTTCT GACGCCCTGAAATCTGACTGTAAACATATGAGTATCCTGGACAGCTCCAA CCTGTAGAGAAGGACTGGCCTTGGGACAGGAGGTTCTGATCTCAATAACC GGAAGAACTGGACTGTCAAAGAACCTTCAAGAGACCACAGACTCATTGCT GTGTAGATCTCATTCTCACACAAAACCAAGATGCCACCTTGGAGCGCCTC CTCTTGACTACAACCTGTTCCTCCCTTCTGCCCTTCTCTGATTTCCCCTC TCCTCTCCTCAACCTGATCAAGACCTCTAGCCTCACCGGTGTCTTCCAGG CCGCTATTCTGATTTAATTTGTCTCCATAACTAAGCACAGTTCATCATCT CTAACAGAATCCTTTCATCTCCTGACAATCCTACTTTCCACATCCCCAGC CTGGGGCCTAGGCGTAGGTAAGAGAATTAAATTACTGGAGGAAAAGGCAG GCAGGCTATAGCCAGTTGAGGTCTCCTTCCATCACCAAAACCATAGTTCT GTCTGAATGGCCTGAGCAGCAGCAACAGCCTAGAAATTGGAATACATGAT ATTTCTAATGAGGCTCTCAGGTAAGGTCTCAGAACCCATTCAGTCTCAAG ACATGCTTTTTGTTTTTGTTTTTGTTTCTTTGAGACAAGGTCTGGCTCTA TCTCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCAAACGACAACCTTCA CCTCCCGGACTCAAGCCATCCTCCCACCTCAGCCTCCAGCATAGTGGGAC TACAGGCATGCACCACCATGCCCAGCTATTTTTGTGTGTGTGGGTATTTG TTGTAGAGATGGGGTTCTGCCATGTTGCCCAGGCAGGCCCTGAACTTGTG AGCTCAGGTGATCCGCCGGCCTCAGCCTCCCAAAGTGCTGAGATTACAGG CAGGAGCCACCATGCCCAGCTGCATTTCTTCTTTCTTTTTATTTATTTTT TTTGAGATGGAGTTTCTCTCTTGTTGCCCAAGCTGGAGTGCAATGGCATG ATCTCGGCTCACTGCAACCTCGGCCTCCCAGGTTGAAGTGATTCTCCAGC CTCAGCCGCCTGAGTAGCTGGAATTACAGGCGCCCGCCACCATGCCCAGA TAATTTTTGTATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01255.hp2 HG01934.hp2 others(17): Show HG00408.hp2 HG01255.hp2 HG01934.hp2 HG01993.hp1 HG02027.hp1 HG02083.hp2 HG02602.hp2 HG02698.hp2 NA18939.hp2 NA18940.hp2 NA18960.hp1 NA18978.hp1 NA19003.hp1 NA19056.hp2 NA19074.hp2 NA19077.hp1 NA19081.hp1 NA19087.hp2 NA19088.hp2 NA20905.hp2	a0001 a0006 a0021 a0001 a0006 a0021	a0001c0002 a0001c0003 a0001c0013 others(2): Show a0001c0002 a0001c0003 a0001c0013 a0006c0006 a0021c0037	a0001c0002t0001 a0001c0003t0001 a0001c0013t0001 others(2): Show a0001c0002t0001 a0001c0003t0001 a0001c0013t0001 a0006c0006t0001 a0021c0037t0001	a0001c0002t0001g0013 a0001c0002t0001g0257 a0001c0003t0001g0007 others(15): Show a0001c0002t0001g0013 a0001c0002t0001g0257 a0001c0003t0001g0007 a0001c0003t0001g0088 a0001c0003t0001g0089 a0001c0003t0001g0090 a0001c0013t0001g0083 a0006c0006t0001g0050 a0006c0006t0001g0051 a0006c0006t0001g0052 a0006c0006t0001g0053 a0006c0006t0001g0055 a0006c0006t0001g0056 a0006c0006t0001g0058 a0006c0006t0001g0061 a0006c0006t0001g0062 a0006c0006t0001g0064 a0021c0037t0001g0006	20	392	0.0510	-2062	c.32 others(11): Show c.3283_*5344del	LBP	ENSG00000129988.6	transcript	ENST00000217407.3	protein_coding		2939		chr20	TogoVar
STK35_chr20_2096827_2153555	2096948	ACCTCATG others(2055): Show ACCTCATGGAATTGTCGTAATTCTTTGTTAATCCCTGTGCCTGGCAGACA GAAAACTTTAGTAAATGTTGGCTATTAGTCCTAACAGTAAAGTATAGGTT ACTTCCATAAGTTAAGCAAGACAAAAACAAAAACTAAAAATTTGGTCAAG GCATCAAATGATTTATCAAGCAGTCCAGCCCTCTTAACAGCATATAAAAG GATTCACACTCCTTGTGGTCCTCCCAGAACTTCATATTCAATCTCTCTCA AAATTCAGGTGGGGGATACAGCTGGAGGCCATTATCCTAAGCAAATTAAC TCAGGAACAGAAAACCAAAAACCAAATACCGCATGTTCTCACTTATATGT GGGAGTAAACAATGGGTGCTCATGGACATAAAGACAGGAGTAGACACTGT GTATTACTAGGGTGGGGAGGGAAGGGCAAGGGTGGAAAAGCTACTGGTTA CTATGCTCATTACCTGGACGATGGGCTCAACTGTATCCCAAACCTTAGCA TCACACAATATATGCATGTAACAAACCTGCACAGGTACCCCAAAATCTAA AAAAACAAGCTGGAATTATAAAAAGTAAATAGGCCGGGTGCAGTGGCTCA TGCCTGTAATCCCAGCACTCTGGGAGGCCAAGGTGGGAGGATGGCTGAGC CAGGAGTTCGAGACCAGCCTGGGCAACATGGTAAAATCCTAGTGGCATGT GCCCACAGTCCCGGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGC CCAGGAGGTCAAGGCTGCAGTGTGCCATGATCATGCCACTGCACTCCAAG CTTGGGCAACAGAGCAAGACCCTCTCTCAAATAGATGGATAAATAGGTAA GATGCCTAAAAACAAAATAAAAACATGTATATGTGTATTAGAAAACAAAA CAAAACAAAATCAGATAGGAAAACTAGCCAGGAGGAAAGACACTGCTGGC TGTGCTAAACCTACGAAGCCAGTGATACAGGAATGGGGCCAGGGCCACAC AATGCAGCCTTCTGTCCTTAGAAACTTCTAAGTAAAGACACAAGTGTTCG CAGCTACAGGGTTTTGGCTTTTTTTTTTTTTTTTTTATGTTTTAATTCAA CTTTGTCGTGGTACAATTTACACACAATAAAATTCCATCACCCAGAAAAT TCCCCTGTGGCCCTCAGCAATCAATTCCCACCTGAAAAACAACCACTGAT ACGATTTCTGCCACTCTAGACTATTGTTGGTTGACTTTATATTAATGGAA TTATAGTATGTGTTCTTTTCCAATTTTTTTATAGCTTTATTAAGTTGTAA AACTGATTTACATAAATACACCTAATATAAAGGGTACAATTTGAAGTGTT TTAATATATTCCTATCTTGAAACTATTACTACAGTCTAGATAACCCATCA CCCCAAAAAGTTTTATGTCCTTTTGTTTTCTATCCACCCTTCCTACCCCA ACTACTGATCTGCTTTCTGTCACTACAAATTAGTTTGTATTGTTAAGAAT TGTATATAGAATCATCTAGCAGGTACTCTCTTGTGCCTGGCCTCTTTCAC TCAGCATAATTATTTTGATTCATACATGCTGTTGTATCAATACTTTATTC CTCCCCCCATCAACACACCCTCAGCAACATTTCATTGTATGGGAATACCA CAATTTGTTTATCCATTCATTTATTGCTGAACACTGCAGCATTTTCCAGT TTGGAATTCTTATGGGAAAAGCCACTGTGAATTCCTATACAAGTTGCTTT ATTAACAGAAGTTTTCATTTACCTGAGACCCATGGAATTGCTGGGCCACA GGGTAGACATATATTTAACTTTATAAGAAACTGCCAAACTGGTTTTTTTT TTTTTTCCCAAAGTGGTTGTACCATTTTAAAATCTTACCACATGGCTGGT TTCACAAGCTTGTATCCATCTCATGGCTTTTGTACTTGTTCTTCTTTCTT CTTGGAATGACTTCCCATTCGGTTTCAGAGCTGGGTTCTTGACATTCAGG TTTCAATTCAAATGTCAAATGCCAAAGAGGCTATTATGGACTGAATTGTG TCCCTCCTCACTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0071 a0002c0002t0029g0071	1	270	0.0037	-2062	c.-49 others(11): Show c.-4933_-2872del	STK35	ENSG00000125834.13	transcript	ENST00000381482.8	protein_coding		4878		chr20	TogoVar
RHEX_chr1_206048173_206107449	206058248	TCTGATAC others(2053): Show TCTGATACCTGTATTTCTCCAAATGATAAAAAACTTCGTCGCTTAACCTT AGTTCACCAAAATGCTTCAGCACAAGCATACTATATAAATCACTATCAAT CTATTGCACGAAAATACATAAGTAGCAAAAATAAGAGTGAGAACTCCCAC TGATAAAAAGTGAGAGTCTCAAAGAGGGGAAATGAGGGAAGAGAGAGACC CTCTCATATTGTTTTATATTGTTTTATACTCAGTACCTCTTTTAAGAAAA AAACAACAAGGAAGTAGAACCAAAGACAAGCAGCCCAGCGCCAGGCCCAA AACCAGGCCTGGGCCTGCCTGGCCTAAACCCAGTAGTTAAAAATCAACTC ATAACTTAGAAACTGATGTTATTCATAGATTCCAGACATTGTATAGAAGA ACATTGTGAAACTCCCTGCCCTGTTCTGTTTCTCTCTGACCACCGGTGCA TGCAGCCCCTGTCACATACCGCCTGCTTGCTCAAATCAATCATGACCCTT TCATGTGAAATCTTTAGTATTGTGAGCCCTTAAAAGGGACGGAAATTGTG CATTCGGGGAGCTCGGATTTTAAGGCAGTAGCCTGCTGATGCTCCCAGCT GAATAAAGCCCTTCCTTCTACAATTCAGTGTCTGGGAGGTTTTGTCTGCG GCTCGTCCTGCTACAACTGGACTTTAAATCTCAAGCACTTTCATGACATC CTCCTTTGTTCTTCTTGCTCCTACCCACCTCCTCTGCCTGCCCAGGATAG GTACTTGCCTTTCTGGCCCTGGATAGACACCCTCATGCTATCTCCCTCCT GCCGTAACAGGTGTGCTCCACTCCCACCAGCCTGCCCCAGCTGGAGACCC AAGTTCCCTTCTCATTGCTCAGGGTTTAGGTGTGTCATCTGCCTCACCCC ACTCCCCCATACATCATGCCCTGTGACTTGATGCTTCATCTTGCATGGTT CATGACTGGCACCATGGGCACTGGAAAGGTGTGGTTTCCAAGACCCCTTC CTACCCTCCATCCAGTAGCTGTCAAAGGGAAACTTGGTGAGGTCAGCTCT CTCACTCAGAAGGGAGACAGGGAAAAAGGCAGAAAGGAAGGGAGCTGTTA GGATACCCAACAGAATCCCATCTGGCCTTGGTGCCCCTAAAGGCTGTAAA ACTTGGTACTTTTGTGTTCCCAGATGCTATTTATCCAAGGTGGCTAGTAA ATTGCCTTAGTGATCCAATGGGTTCCCCCCACCCCACCTTGGCCACAGTC TCTGCATTGCACAGCCAGCTCCCCAAGACATGTGGCCTGAGGGGTGCTAT CTGCTATAGGGCTGAATCATGCAGCTTCACTTTATGGGGAAGAAACAGGA AGGAGACTGAATGCAGATAAAGAGAGCTTTGGGTTTGGAGTCAAAATGCC TGACTCCAGTCCTGGCTACAGCACTTGCCTCAGGCAAGTGCCTTCCCCTG AGATTCCTCACCTATACAATGGGAGGGTTTAAGATTCCTTTTAGCTCTGA GAATCTATGGACAGAATGTGGCTGGAGAGGGGATGGACTTTGTGTCTCCA TCCCTCGAGGCAGGAGAAATTCTTTCCTGGTGTGAATAATTCTCCCCTTC CCCACCAGAGCATGGGCAGGCTCCCACGCCTGCCACCTCTTCCTAGCCGT AGCTCTACTGGCCTTGCTTATGTCCTGATCCTGTCAACCCCTCTCACATG CCCTCCCCCAGGTACCTAGCACTGCACATCCTGGTTATCTCTTTTTCTGG ACCTCCTGTCATATCTGCTAACCCTTGGTAAGAATGGTAGAGCTCTGGAG TGAAACAATCACATGGAGGCAGCAGAATATACTGTGTATGAACACACGAC TTAAAGTCAGAGAGATGGAGGTTTATGTCCAAACTCTGCCACTTACCAGC CCTATGACCCTGAGCAAGTGTGATCCTCAAGAACTGTTTTTCTTTACTGT ATAATAGGAATAATGATTGTTCCTATCTCAGGTCTATATATGAAGATTAA ACAAGATAATGAATGTGCCCAATATATACTAAGTTCACAATAAACAGTAG CTAATATTACC	T T	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18975.hp2 NA19012.hp1 NA18970.hp1 NA18975.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	3	332	0.0090	-2060	c.-97 others(17): Show c.-97+4984_-97+7043del	RHEX	ENSG00000263961.8	transcript	ENST00000331555.10	protein_coding	1/5			chr1	TogoVar
SLC51A_chr3_196211534_196238427	196222373	ACCTGTAA others(2053): Show ACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTTGAGG TCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTATCTCTACT TAAAATACAAAAATTAGCTGGGCATGGTGGTGGGTACCTGTAATCCCAGC TACCTGGGAGGCGGAGGCAGAAGAATTGCTTGGATCCACGAGGCGGAGCT TGCAGTAAGCCGAGATCGCGCCACTGCACCCCAGCCTGGCGACAGAGTAA GGCTCCATCTCAAAAAAAAAAAAAAAGTTAAGTTTTGTAAAAGGTGCGTT CTAGACCCTCCTTTTGGAAATTTACAATGTAAATTAGCAGATTAAAAATG TCAGTATGCTCTGCAGGAATCATCACATTTAACCTTAATGCATTTCCAAA AATTCTTCAGCTGTGGAATACTTTTGTCCCATAGTGTCTATTTAGATGCC CTTTTGGGGAAATTGAGTTTAACCAGCAAAGAAGAGGCCATCTCCTAAGA AGATAGTTTGATGGACAGACCCAGTATCGGGCTATGGATGCTAAGGAACT TTTCCTTTCCTAATTAGAGTACCAAAGGCAACAGTTAGAAGACACTGCAA AACCATTTGTGTTGAACAGTCAGAATCTGCCCCACCCTCACCTTCATAAA TGGAACGGCCCTCCCAGGGTTGCCTTTGATGATCTCTCCCATATCCACGA GTACACACACCTGGAGTCACTGTGTGTCATGGTTAATAAGAGTGTGGGCT TAGTCACGAATACCTGCGTTTAAATCTCTGCTCCTTCACTTCCAGGCTGT GTGACCCTGGGAGATGTGCTTCCTTCTCTGAGCCTCGTTTCCTGAAAAAG TCTATGAAATGCAGATGATGATAGGAATTCTCATAGGTTATTTCTTTCAT TCAACAAATAGTTACAGAGCCGTTACTCCTCCGGGCGTTTGAGAACAGAG CACAAGCTTGACAAGGTCCCTGCCTCCGTGGAGTGTGCACCACAAGGTGG AGAGCCGAGAATAAGCGAGTAAACAGCTGTGTAAATACAAATAGCCCTGA TGTGGGCGGAAGGAGGACATAACGTTACCCGGAATGGAGATTTTCACGGA GCAGGGAGCAGTTAGGGAAATGAAGACTGGGAAGGACTGGGTTGGTGGCG TGTGAAAGGGCAGTTTTTACGCTCTCCAAGGGCTGATGAGCACACGGGGC TGGGGGTAAGAGAGGCTCTAGCAATGGCCCCCGCTTCCCAACCACAGAAC ATTGGTTTTGGAAAACCACCTGCATTAATGTTGGCTTTTTCCTATCTGGA CTTTGCCTATTGTCTGAGTTTTTTTAATTAAACATTTCTATTATAAAAAT CATTCAGGTTTAGTTAAAAAAAAAAAAAGAAAGAAAGAAAATACAGAACA GTAAAAAGAGAAAAAAATCATCTACAGTCCCACCCAGAGACAGGCACGGC AAATATCTTAGTGTAATTTCCTTTTTTTTAATGCCTTTTTTTTTTTTTTT TTTTTCAGACAGAGTCTGGCTCTGTGGCCCAGGCTGGAGTGCAGTGGTGT GATCTCAGCTCAATGCAACCTCCACCTCCCAGTTCAAGCAATTCTCCTGC CTCAGCCTCTCCAGTAGGTGGGATTACAGGTACTCGCCACCATGCCTGGC TAATTTTTGTATTTTTGGTAGAGATGGGGTTCCACCATGTTGGCCAGGCT GGTCTCAAATTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCATGAGCCACTGTGCCTAGCCCTTTCTCTATGTTT TTATTTAACATTTGTAGAAATCATACTATTCCTAAAATTTTATGTTCTGT TTTTGTAAGCATGATACAAAATAAATTTTTCACATCATTGTATATTTGGA AAAATATGTTCTTTTCTAAAAAAAGGTTTATTTTTGTTATAAATACATAT TCATTATAGAATAATTGGAAAAGAAAGACACTAGGGATTTTCACACACCG AGAAAAGGCCATGTGGGGACACAGTAGAAACGCGGTTGTCGGCTGGACCC GGTGGCTCACG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02004.hp2 HG03654.hp2 HG01167.hp1 HG02004.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161	3	426	0.0070	-2060	c.133 others(17): Show c.133+4469_134-2501del	SLC51A	ENSG00000163959.10	transcript	ENST00000296327.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
GAL3ST2_chr2_241771822_241809287	241805711	CTCCCCCC others(2052): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGC AGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGG GACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCC TCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTG CAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0002 a0008c0015t0002	a0008c0015t0002g0086 a0008c0015t0002g0086	1	312	0.0032	-2059	c.15 others(11): Show c.1546_*3604del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1425		chr2	TogoVar
LBP_chr20_38341482_38382013	38379954	AGTGATAG others(2052): Show AGTGATAGGTGTGCTGAAAAGAGCCAGTATTGATTCCAGCCTACCTGTTT TGGGTCCCTGGGCAAGGTATCTCCAAGCCTCAGTGTCCTCTCCTGTCAAA TGAGGCTGGGAAGAGCTCTTGGCGGGATTATTTTGGAAATTGATGGGTTC AGGTTAAGCTTCCGTGGGTGCCCAGAGAATAACCAGGTGGTGGTCAATGG ATGACACAATTAGATCACCTGTCATACTTGGTGTCCCCAGAAGCAGACCC TGAAGAAAAGAGGTGAGTACAAGTATGACGGTGTTGCAAAAGTAATTGTG GTTTTTGCTGTTACTTTCTTTTTTTTTTTTTTTGAGGTAGAGTCTAGCTC TGTCGCTCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGACTCAGCCTCCTGAGTAGCTGG GACTACAGGTGCCTGCCACCACGCCCAGCTAATTTTTTGCATTTTTAGTA AAGGCAGGGTTTCACCATGTTAGCCAGGTTGGTCTTGATCTCCTGACCTC ATGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCTGGCCTGACTCCCAGTCTTTTCTCCAGTTAATCTTTCCTGG GTTTTTGATGAGATTCCTAGGAAGGGGGTCTTAAGATAATTGCATTTCTT TTGGAAAGAAGTTTTCTTATTCAGAGAAGGAAATTCCAGACAGAGTCCCT TCTGGTGCTTCAGGAAAGAGGATCAGAGAGCTAAGGAGGTGAGGGAAGAT CAGAGGGAGACCTTGAGTCTGCTTTTTTAGTTCAGCATATCAATGTGCCA TATATTGGCGTATTGTTTTCCGAGCCCCAACAGTGTTATATCTCGATGGG GTAGTACAGGACAACACAGCTGGCCCTAGAGTCCCATAGCAGGTTCTGAC GCCCTGAAATCTGACTGTAAACATATGAGTATCCTGGACAGCTCCAACCT GTAGAGAAGGACTGGCCTTGGGACAGGAGGTTCTGATCTCAATAACCGGA AGAACTGGACTGTCAAAGAACCTTCAAGAGACCACAGACTCATTGCTGTG TAGATCTCATTCTCACACAAAACCAAGATGCCACCTTGGAGCGCCTCCTC TTGACTACAACCTGTTCCTCCCTTCTGCCCTTCTCTGATTTCCCCTCTCC TCTCCTCAACCTGATCAAGACCTCTAGCCTCACCGGTGTCTTCCAGGCCG CTATTCTGATTTAATTTGTCTCCATAACTAAGCACAGTTCATCATCTCTA ACAGAATCCTTTCATCTCCTGACAATCCTACTTTCCACATCCCCAGCCTG GGGCCTAGGCGTAGGTAAGAGAATTAAATTACTGGAGGAAAAGGCAGGCA GGCTATAGCCAGTTGAGGTCTCCTTCCATCACCAAAACCATAGTTCTGTC TGAATGGCCTGAGCAGCAGCAACAGCCTAGAAATTGGAATACATGATATT TCTAATGAGGCTCTCAGGTAAGGTCTCAGAACCCATTCAGTCTCAAGACA TGCTTTTTGTTTTTGTTTTTGTTTCTTTGAGACAAGGTCTGGCTCTATCT CCCAGGCTGGAGTGCAGTGGCACAATCTCGGCAAACGACAACCTTCACCT CCCGGACTCAAGCCATCCTCCCACCTCAGCCTCCAGCATAGTGGGACTAC AGGCATGCACCACCATGCCCAGCTATTTTTGTGTGTGTGGGTATTTGTTG TAGAGATGGGGTTCTGCCATGTTGCCCAGGCAGGCCCTGAACTTGTGAGC TCAGGTGATCCGCCGGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCAG GAGCCACCATGCCCAGCTGCATTTCTTCTTTCTTTTTATTTATTTTTTTT GAGATGGAGTTTCTCTCTTGTTGCCCAAGCTGGAGTGCAATGGCATGATC TCGGCTCACTGCAACCTCGGCCTCCCAGGTTGAAGTGATTCTCCAGCCTC AGCCGCCTGAGTAGCTGGAATTACAGGCGCCCGCCACCATGCCCAGATAA TTTTTGTATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG03710.hp2 HG02486.hp2 HG03710.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0006c0006t0001 a0001c0001t0001 a0006c0006t0001	a0001c0001t0001g0292 a0006c0006t0001g0063 a0001c0001t0001g0292 a0006c0006t0001g0063	2	392	0.0051	-2059	c.32 others(11): Show c.3286_*5344del	LBP	ENSG00000129988.6	transcript	ENST00000217407.3	protein_coding		2942		chr20	TogoVar
NEU4_chr2_241804193_241822413	241805711	CTCCCCCC others(2052): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGC AGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGG GACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCC TCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTG CAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	317	0.0032	-2059	c.-35 others(11): Show c.-3566_-1508del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3481		chr2	TogoVar
PHF20_chr20_35767015_35955370	35803365	TCAGGCTG others(2052): Show TCAGGCTGGAGTGTAGTGGCGTGATCTCGGCTCACTGCAGTCTTTGCCTC CTAGGTTCAAGCAATTCCTCTGCCTCAGCCTTCTGAGTTGCTGAGATTAC AGGCATGCACCACGATGCCCGGCCAATTTTTTGTATTTTTAGTAGAGACA GGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGATGA TCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC AAGCCTGCCTGTTTTTGGGCTATTTGTATTATCTATAATTAGTTCCTTTT TTGGTTTCAGTATATATATATGTGTGTGTGTGTGTGTGTGTATATATATA ATATACTGCGTGTGTGTATATATATTATATATTGTATGTATATATATTAT ATAAGTAGTATCATACAACTTGTTTTTTTTCTGTGTCTTTGTTTTTTATA TTCAATATGTTTTTGTGATTTACCCATACTTAACTCCGCACCCTCCTCGC CCACCCCTGATATAGGGTCTTACTCTATTGCTCAGGCTGGAGTGTAATGG CACAATCATAGTTCACTGTGGCCTCCAACTCCTGGGCTCAAGTGATCCTC CTGCCTTAGCCCTCCATGTATCTGGGACTACATCTTAACTTCTGTATAGA GTTTTATTGTATGAATATACCACATTTTGTTTATCTAGTCCCCTACTAAT GGACGTTTGTTTGTTTGTTTATTTATTTATGATGGAGTCTAGCTCTGTCA CCCAGGCTGGAGTGTGGTGGCACAATCTTGGCTCATTGCAACATCCGCCT CCTGGGTTCAAGCAGTTCAGCCTCAGCTGGGATTACAGGTGCCCACCTTG CCAAGCTACTGTATGTTTTTTTTTTTTTTTTTTTTTTGAGACGTAGTCTT GCTCAGTCGCCCAGGCTGGAGTGCAGTGGCTCGATCTCTCCTCACTGCAA GCACTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAG CTGGGACTACAGGCACCCACCACCATGCCCAACTAATTTTTTTGTATTTT TTTAGTAGAGACGGGGTTTCACGGTGTTAGCCAGGATGGTTGCGATCTCC TGACCTCGTGATCCACCCTCCTCGGTCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCAGCCTAATTTATGTACTTTTAGTAGAGATGGGG TTTCGCCATTTTGGCCAGGCTGGTCTCAAATTTGTGACCTCAGGTGATCC ACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCT CCTGGCCCGTTTATTTATTTATTATTTTTTATTGTATTTTTTTTTAAATG GGTGCTTAAATTCCAGTTTTTCACCTGAGACACAGTGCTGTGTGAATGTC TCTTTGTGCACATACACAGACTTTTACTTGGGCAGTGGCTTTTGACCACA ACCTACAGTAAGAAATGTATTTTAAATCCAGTGTGGTACTCAACCATATG TACATAAAAATTTATTTTTATTTTGTTTTTATTATTATTTTTTTGAAACG CTGTCGAGACAGCGTCTCACTTTGTTGCCTAGGCTGTAATGCAGGGTCGT GATCTTGGCTCACTGCAATCTCCGCCTCCCAGGTTCAAGCGATTCTCGTG CCTCAGCCTCCTGAGTATGTGGGATTATAGGTGTGTGCCACCATGCCTGG CTATTTTTTTTTTATTTCTAGTAGAGCCGGTGTTTCACCATGTTGGCCAG GCTGGTCTTGAACTCCTGGCCTCAGGCGATCTGCCCAACTCGGCCTCCTG AGTGCTGGGACCACAGGCCAGATCCATGGCACCCGGCCTATTTTTATTTT TCCAGACAAGGTCTCATTCTGTTGCTCAGGTTGGAGTGCAGTGGTGGGAA CAGAGCTCATTGCAGCTTTGACCTCCCTTGGCTTAAGCAGTCCTCCTGCT TCAGCTGGGACCACAGGCACATGCCACCACGCCTGATTTTTTATTATTAT TATTATTATTATTATTATTATTATTATTATTATTTTGAGATGGAGTCTTG CTCTGTCGCC	T T	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	204	0.0049	-2059	c.83+ others(15): Show c.83+1773_83+3831del	PHF20	ENSG00000025293.17	transcript	ENST00000374012.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
ADPRHL1_chr13_113394611_113458488	113435015	GGCACCCA others(2051): Show GGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCAGGACCCGGCACCCA GGTGTAGAGTGAACATAGGTGTACCCTGGGACCCAGCACCCAGGTGTAGA GTGAACATAGGTGTACCCCAGGACCCGGCACCCACGCATAGAGTGAACAT AGGTGTACCCTGTGACCCAGCACCGAGGCGTAGAGTGAACATAGGTGTAC CCCGGGACCCAGCACCCAGGTGTAGAGTGAACACAGGTGTACCCCGGGAC CCGGCACCCACGCATAGAGTGAACATAGGTGTACCCTGTGACCCAGCACC CAGGCGTAGAGTGAATATAGGTGTAGCCCGTGACCCAGCACCCAGGCGTA GAGTGAACATAGGTGTACCCCAGGACCTGGCACCCAGGTGTAGAGTGAAC ACAGGTGTACCCCGGGACCCAGCACCCAGGTGTAGAGTGAACATAGGTGT ACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACACAGGTGTACCCCGGG ACCCAGCACCCAGGTGTAGGGTGAACATAGGTGTACCCCGGGACCCAGCA CCCAGGTGTAGAGTGAACACAGGTGTACCCCGGGACCCAGCACCCAGGTG TAGAGTGAACACAGGTGTACCCCGGGACCCGGCACCCAGGTGTAGAGTGA ACACAGGTGTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACACAGGT GTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCG GGACCCGGCACCCAGGTGTAGAGTGAACACAGGTGTACCCCGGGACCCGG CACCCAGGTGTAGAGTGAACATAGGTGTACCCCGGGACCCGGCACCCAGG TGTAGAGTGAACACAGGTGTACCCCGGGACCCAGCACCCAGGTGTAGGGT GAACATAGGTGTACCCCGGGACCTGGCACCCAGGTGCAGGGTGAATACAG GTGTACCCCGGGACCCAGCACCCACATGTAGAGTGAACATAGGTGTACCC CGGGACCCAGCACCCAGGCACAGAGTGAACATAGGTGTACCCTGGGACCC AGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCGGGACCCAGCATCCA CACGTAGAGTGAACACAGGTGTACCCCGGGACCCGGCACCCAGGCGCAGG GTGAACATAGGTGTACCCCGGGACCCAGCATCCACACGTAGAGTGAACAC AGGTGTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACATAGGTGTAC CCCAGGACCCGGCACCCACGCATAGAGTGAACGTAGGTGTACCCTGTGAC CCAGCACCCACACGTAGAGTGAACACAGGTGTACCCCGGGACCCAGCACC CAGGTGTAGGGTGAACATAGGTGTACCCCGGGACCCAGCACCCAGGTGTA GGGTGAACATAGGTGTACCCCGGGACCCGGCACCCAGGTGCAGGGTGAAC ATAGGTGTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACACAGGTGT ACCCCGGGACCCGGCACCCAGGCGCAGGGTGAACATAGGTGTACCCCGGG ACCCGGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCGGGACCCGGCA CCCAGGTGCAGGGTGAACATAGGTGTACCCCGGGACCCGGCACCCAGGTG TAGAGTGAACACAGGTGTACCCCGGGACCCAGCACCCAGGTGTAGGGTGA ACATAGGTGTACCCCGGGACCCGGCACCCAGGTGCAGGGTGAACATAGGT GTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACACAGGTGTACCCCG GGACCCGGCACCCAGGCGCAGGGTGAACATAGGTGTACCCCGGGACCCGG CACCCAGGTGTAGAGTGAACATAGGTGTACCCTGTGACCCAGCACCCACA CGTAGAGTGAACATAGGTGTACCCCGGGACCCAGCACCCAGGTGTAGAGT GAACATAGGTATACCCCGGGACCCAGCACCCAGGTGTAGAGTGAGCATAG GTGTACCCTGGGACTCGGCACCCAGGCGCAGGGTGAACATAGGTGTACCC CGGGACCCA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03130.hp1 HG03471.hp2 HG02572.hp2 HG03130.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0017 a0002c0005t0090 a0002c0005t0091 a0001c0001t0017 a0002c0005t0090 a0002c0005t0091	a0001c0001t0017g0079 a0002c0005t0090g0055 a0002c0005t0091g0112 a0001c0001t0017g0079 a0002c0005t0090g0055 a0002c0005t0091g0112	3	129	0.0233	-2058	c.380 others(17): Show c.380-3206_380-1149del	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	2/7			chr13	TogoVar
ASMT_chrX_1610059_1648081	1637215	ACATGAGG others(2049): 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 GATGGTT	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 NA18973.hp1 HG01516.hp2 NA18973.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0041 a0002c0002t0002g0199 a0001c0001t0001g0041 a0002c0002t0002g0199	2	197	0.0102	-2056	c.910 others(16): Show c.910+669_910+2724del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
CPEB1_chr15_82538201_82652363	82621350	AGTGGCTC others(2049): Show AGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGA TCACCTGAGGCCAGGAGTTCAAGACCAGCCTGACCAATATGGAGAAACCC CGTCTCTACTAAAAATACAAAATTAGCCAGGGGTGGTGGCACATGCCTGT AATACCAGCTACTCAGGAGGCTGAGGCAGGAGACTCACTTGAACCCGGGC AGAGGTTGCGGTGAGCCAAGATCCCGCCATTGCACTCCAGCCTGGGAAAC AAGAGTGAAACTCCATCTCAGAAAAAAAAAAAAAAAATCTAACATCAGGC TACAACTATACAATTCTTTGGTCCTACATTAAAAGTCAGCAGTCTATTTA GGTCTGAGAGCTGGTTACATGGTTGTGTTCAGTTTGGGAAAGTTGGAGCT CTTCGCCTATGATACAGCATGTACTTTCCTGTATGTGTATTATATTTCAG TTTTTAAAAACTGTTAAATAAACATATCAGTGCTAAACCTTACTTAGGAC TGCTTTGGCTAGTCAATTCCTTTCTAAACCTCCAAGCTATTTTAACTGAT TATTGAGAAATGGCATCTCAGTGAATTAATATGAAACTGCTCCTCCAATC ATTGCCTCCATCCTAAATATTAAGTCTCCCTACCCATATAGCAGTTAAGA CATCCCTTAATGATGTTTCACCACTTTTCACATCTTTACAGACACCGTTA CTAACAACTCAACACATTAATGCTTAAATCACATGTCCATTTGCAGCCCA TTTTCTCCATTCCTCACAGATTCCAAAAGGTCTATGGCTTAAAGGACTAG GGAATGTGGAGAGGGCCCTCTAGGTGGCAGACATCCCTGTCATCTCCACT AGACAGTTGTTGGGGTAGGAAATCCAGCTCTGGCCTGACCTTCCAGCCCC ACCCTAGCTCCTACCACCCATCATGCAACAAGGGCCTTCTTGGTGGGGTA CTAGCCCAAAAGCTCAGGCCTTTGCAAAACCCTCTTAAACCACAGCAAGT CATAACTTTCTTGTATATAAACGGGGAATTCAGATGCTCCAGCTACTCTT TCCCTGCCCCGCCACATCTCTCTCCAGAGTCGCACTCTATCACCCAGGCT GGAATACAGAGTGCAACCTCGGCTCACTGCAACCTCCGACTCCCCGGTTC AAGCAATTCTCCTGCCTCAGCCTCCCGGACTACAGGCACGCACCATCATG CCCGGTTAATTTTTCTATTTTTAATAGAGACAAGGTTTCGCCATGTTGGT CAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCCACCTCGGCCTC CCAAAGTGCTGAGATTACTACAGGCATGAGTCACTGCACCCAGCCCACAT CTCTTCTTCATTAATTTCTATTCAGTCAGGGATAGACAGCAAGTCAGCTG TCTAACCAGGGGTTCAACCTTGTCTTCTTTCTTGGAAGCATTCTCCATCT ATACAAATACTTCTCTTGGAAGACCCTCTTGCTTGGCTTAAATGACAAAG CCACATCCTACCCCACCCTCCTCCACGGACGGGGACGGAATCACTTCAAA TGCTACCCCCCTCCTTATGTGATCCTCTTTATAAGCCAGGGAAGGGTTGA GCTAATGTTTGTGGTAGGAGGGACAGCTCTGTGACCTTTTGGTAAGCCCT GGCGGGAGGTATCTGGTCCCACCTCTTAGGGATTCTCATTACACCACAGG TCATTTAACAGCTCTTTAGTCTCAGCTTTGGGCCCTAATGGCCAATTCTG GAGCAACAGAAAAAAAATAATCTACTCAACATCCAGTTAAGACTAAAGTA ATTTTAATTCTCTTCAAAGCCTATTTCAAATGCTGCTTTAACCAGAAGTG TTTCCTAGTTCTCAAACCAAACCAACCTCTTCCTGACCCTATCACAGCAC TTTTCCAATGATGCTTTATCAACTGGGTTATGCATGCAACTAGCAATGTG AAACACTGTGTTAGGAAACACACCATTTGAAAATTTATTACAAAATGTTT GTTTTAGAAGAACTAGTGGGGAAAAGCATACAGAAAAAAATTACCCAGCC AGGTGCG	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	352	0.0028	-2056	c.271 others(17): Show c.271+3787_271+5842del	CPEB1	ENSG00000214575.10	transcript	ENST00000684509.1	protein_coding	3/12			chr15	TogoVar
PRKCZ_chr1_2045411_2190395	2121830	GTGGTAGT others(2047): Show GTGGTAGTTAGGTTCATGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCAC GGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGCTGTAGTTAGCG TCATGGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGTGGTGGTT AGGGTCACGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTAGT TAGGTTCATGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCACGGTGGTAG TTAGGGTCGTGGTGGTTAGGGTCATGGTGGTGGTTAGGGTCACGGTGGTG GTTAGGGTCGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGTGGTTAG GGTTGTGGTGGTTAGGGTGGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGG TCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGTGGTTAGG GTCACGGTGGTGGTTAGGGTCACGGTGGTAGGGTCGTGGTGGTTAGGGTC GTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGT CACGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGGGT CGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGG TTGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGG GTCATGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTTAG GGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCACGGTGGTGGTTA GGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGG GTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGT GGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGG TGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTG GCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGT GGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCA CGGCGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTGGTTAGG GTCACGGTGGTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGTTC ATGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGT CACGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGTTA GGGTCACGGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGTGGTA GTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGGGTCGTGGTGGTT AGGGTCGTGGCGGTGGTTAGGTTCATGGTGGTGGTTAGGGTCGTGGTGGT TAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCATGGTGG TGGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTTGTGGTG GTTAGGGTCGTGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTTGTGGT GGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGG TTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTG GTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGTAGT TAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCACGGCGG TGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCACG GCGGTGGTTAGGGTCACGGTGGTAGTTAGGGTGGTGGTGGTTAGGGTCAC GGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGG TCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGCGGTGGTTAGG GTCACGGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGCGGTTAG GGTCA	G G	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0099 a0001c0002t0001g0099	1	256	0.0039	-2054	c.335 others(19): Show c.335-13431_335-11378del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
SLC25A33_chr1_9534465_9590173	9535553	ATGCCACT others(2047): Show ATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTTCATCTAAAAAA ATAAATAAAAATAAATAAAATAAAATAGAGATGGGGTCTTGCTATGTTGC CCAGGTTAGTCTAGAGCCGAAATGATCCTCCCACCGTGGCCTCCCAAAGT GATGAGATTACAGAGGTGAGCCACCACACCCAGCCTGTAAAAATAATTTT TTTCTTTTTTGACACGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAA TGGCATGTTCTCAGCTCACCACAACTCCCACCTCTTGGGTTCAAGCCATT CTCCTGCCTCAGCCTCCCAAGCAGGTGGGATTACAGCCGCCCACCACCAT GCCGAAGTTAATTTTTGTATTTTTAGTAGCAGCTTATGGGCCAGGCTGGT CTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCTCAAAGTGC TGGGATTACTGGCGTGAGCCACCGCGCCTGGCCTAAAAATAATTTTTAAA ATTTTTATATTAAAATTGCTGCTAGCAAAACCTTTTTTTTTGTATATTGA CCTTATTTCCTGTGATCTTGCTAAATTCACTAATTAGTTCTAGTAGTTGT TATATAGATTACTTAGAATTTTCTAGTAAACAGTTACATCATCTATGACT GAAGACAGTTTCACTTCTTTATGATCTTTACACATTTTTTTTTCTTGCCT TACTGCACTGACTAGGGCCTCTAGCACAACATTGAGTAAGTGGTAACGGC AAATATCTTTGCTTATTGCCAATCTTAGGGGCAGGTGGTCAGTTATTTAA TGTTGTGTGTGATGTTAGCTATAGGTTTGGGGTAGACGCTTTATATCAGA TAGAGGAATTCCCTCCTGTTCCTTGTTTGCTGAGAGCTTTTTTTCATGAA TAGGTGTTCAGTTTTTTCAAATGCTTTTCTGCATCAATTTACATGGTCAT CAGGTTTTTTTCCATTATTCTCTCTTTCTCTTTCACTGTTTTTTTTTTCT TTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTGCTGTTGACACAGCCCC AGGAGGTCCTGGGAACATGTGTCCCTGTTATTCTCTTAATATGCTGAATT ATATGGATTGATTTTTTGAATGTTAAACCAATCTCTAATTCCTGGGCATC TCTCATTTCGTCCTGATGTATTATCCTTTTTCTATATTGCTGGATTTGAT TGCCAATGTTTCATTAAAGGTTTTTATCTATTGGAATCTCTGTTGTATAC CCAGTACATGGCCATGGCCAATGCCTGAGCTGGTGTCAGAGGAGCTCTAG AAGTCTAGGAAGGGGGCCATCCTAGTCAGGGAAAATAGCAGGTTCAAGCC AGGCGTGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCAAGGCG GGCGGATCACCTGAGGTCAGGAGTTCGAGCCCAGCCTGGCCAACATAGTG AAACCCTGTCTCTACTAAAAATACAAAAATTAACCAGGCATGGTTGCGGG CGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAACGCTTGAA CCCAAGAGGTGGGGGTCGCAGTGAGCCGAGAACGCACCATTGCACTCCAG CCTGGGCAACAAGAGTGAAACACCGTGTCAAAAAAAAAAAAAAAGAAAAA ACCAACAAAAATTAGCCAAGCATGGTGGCATATGTCTGTAATCCCAGCTA CTCAGGAGGCTGAGGCAGGACAATCGCTTGAATCTGGGAGGTGGAGTATG CAGTGAGCCAAGATGGTGCCACTGCACTCCAGCCTGGGTGACAGAATGAG GCCTCCTCTTAAAATAATAGGCCAGGTGCGGTGACTCACGCCTGTAACCC CAGCACTCTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTTGAG ACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCAGTGTGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGACGA GATCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00423.hp2 others(110): Show HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG01099.hp1 HG01106.hp2 HG01346.hp1 HG01884.hp2 HG01975.hp2 HG02004.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03239.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03710.hp1 NA18612.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18953.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp2 NA18981.hp1 NA18990.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19067.hp1 NA19067.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 a0001c0001 a0001c0003 a0001c0008	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(14): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0003t0002 a0001c0008t0002	a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 others(108): Show a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0308 a0001c0001t0002g0310 a0001c0001t0005g0339 a0001c0001t0005g0340 a0001c0001t0005g0341 a0001c0001t0005g0342 a0001c0001t0005g0343 a0001c0001t0005g0346 a0001c0001t0005g0347 a0001c0001t0007g0312 a0001c0001t0007g0313 a0001c0001t0007g0315 a0001c0001t0007g0316 a0001c0001t0007g0317 a0001c0001t0007g0318 a0001c0001t0008g0235 a0001c0001t0008g0238 a0001c0001t0008g0245 a0001c0001t0008g0294 a0001c0001t0008g0309 a0001c0001t0011g0225 a0001c0001t0011g0271 a0001c0001t0011g0278 a0001c0001t0015g0319 a0001c0001t0015g0320 a0001c0001t0016g0344 a0001c0001t0016g0345 a0001c0001t0017g0011 a0001c0001t0031g0222 a0001c0001t0032g0321 a0001c0001t0033g0349 a0001c0001t0035g0348 a0001c0001t0037g0270 a0001c0001t0039g0208 a0001c0001t0040g0314 a0001c0003t0002g0010 a0001c0003t0002g0307 a0001c0008t0002g0017	113	360	0.3139	-2054	c.-41 others(11): Show c.-4138_-2085del	SLC25A33	ENSG00000171612.7	transcript	ENST00000302692.7	protein_coding		3911		chr1	TogoVar
TMTC1_chr12_29495840_29788942	29691448	AAACTGGT others(2047): Show AAACTGGTTTCCCACACAGCTGGCTCTGTGTGAATTACTCTCCCTCCATT GAAATTCCCCTGTCTTGATAAATCAGCTCTGTCTAGGCAGCAGGCAAGGT GAAACCCGTTGGGTGGTTACAGTGACTGTCAAACTGACCATTACCGGAAG CCAAAACTGAGGAAACAATTCTCAATCACTCAGATCTTAGAATAGATGGA GAAACTTCTCAGGATGTTTCATAAGACATGATGAGGAAGTCATACGGTAA CAACTCATACACCCAAAAGTAGGAAAAAAAAAAAAAAAAAACCTACTTCC CACAATGGTGTACTGGAGGTCTGAGAGAGGACACAAGTGAGTGTGCTGTA CAAATAGAACTGTGTTGGAAGGAAAAACATGAAATTCGGGATTATTTAGT CAACACTAAGAGGCTCCAATGGAGCTACTGCTGTGTCCAGAGGGTCGCAC ATCACCTCTGTAAAAGGCATTATAGAAGACCTTAACAAATCGAAGAAAAA AGCTATGAACAGATAGGAATGTTCTCTTTGTAGAGACTAGACAAGTGTAA TTAATAATAAAAGCACTCTCAGCTCATGAGCACATTGTGATATAAATGAA TGACCTCAGTAGACATTGTCATTACTCTCAACAAAGAATGTTCAAATTAT TACCAATGTTTTCAGTGTGCTTGTGTCTTTATTCCCCACTGATAACATTA CAAGAATATGCTTTGGCTTTCCAAACAATACAATTTATTCTCTTTAATAA TTCTTCTTTTTCCTCCCTTTCACATAATCATACCACTTTATTCTCATTGC TTCCCATCAACATCATCTTTATTTCGCTTTTCTTCTCAATTCTTCTTATA ATCTTTCTCTCCTCTATTGTTTGTTCTATGCCATGCTTGGTTAGGAAAAA ATAATACACAATTGTGCTCTGAGGGCCAACGAAATGAATTAAGTTCACCT GAAAGCTTCAAAGGACACAGTCAATATCATCAGTCATTAGTCAAAATGAG ATACCACTTCCCACGCACTAGAGTGGCCATAATCAAAGAGGTAGACAATA AGGAGTACTGGTGAAAATGTGGGGAAACTGGAACCTTTATACATTACTGG TAGGATATGTCAACTGGTACAAGCAGTTTGGAAGAGTTCAGCAAAAATTA AAACATTCCTTTACTATATAAAGTGGCAATTCCTTCCTTGGTATTCATCT TTCCAAGAATATAAAAATAAATATCCACACAAACACTTATATGTGAATGT ATAGAGTATTATTCACGACAGCCCCAAATGAAAACCATCCAAATGTCCAC TTACAGGTGAATGGATAAACAAAACATTTATAAACAAAATACAAGTGAAC ACGATTCAGCAATAAAAATAGAAGAAAGTAGTAATACATGTTATAACATA GATAAACCTTAAAAACATCATACTACATTAAAGAAGCCTGACACAAAATA ACACGTTTTATTATTATATTTATATGTAATGTCTAGAAAAGGCGAATCTA CAAAAACAGAAAGCAGATGAGTGATTGCCTGGGGCTGGGATTAGGAGTGA AAACTGACTGCAAATGCCCATCAGGGGTCTTTTTAGAGGGGTGAGAATAT TATAAGAGTGAACCGTAGTAAGGTTTGCACAGCTCTAAAAGTTTTGAAAA TGTTTAAAGTGTTTTCTTTAATTGACACATAATAATTATAAATATTTATG AGGTACAGAGGGATATTTAAATACATACGATGTGTACTGATCAAATCAGC TGTAAAAGTTTTGAAAATGTTCAAAGTTCTTGTTTTTTAAAATTGACACA TAATAATTATACATATTTATGAGGTACAGAGGGATATTTAAATACATACA ATGTGTGCTGATCAAATCAGGATAATTAGCATATCCATCATCTCAAACAT TTATCTTTTCTTTGTGTTGGGTAGATTGAAAATCCTCTCTTCTAGCTATT TGAAAATATATAATAAATTACTATTAACTATAGTCAGTCTATAGTTCTAT AGAATATTGGAATTTATTCCTCCTAACTGTAATTTTGTATCCAAAATTTG TAACC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00438.hp1 others(76): Show HG00140.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00741.hp1 HG01070.hp2 HG01169.hp2 HG01192.hp1 HG01255.hp2 HG01257.hp2 HG01346.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01993.hp1 HG02027.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02132.hp2 HG02145.hp2 HG02258.hp2 HG02300.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp2 HG02976.hp1 HG03486.hp1 HG03492.hp1 HG03516.hp2 HG04184.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18974.hp1 NA18982.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18994.hp1 NA18995.hp1 NA18999.hp1 NA19006.hp2 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19076.hp1 NA19084.hp1 NA19089.hp1 NA19089.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(11): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0008 a0001c0010 a0001c0012 a0001c0013 a0001c0014 a0001c0021 a0002c0003 a0002c0004 a0002c0009 a0002c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(54): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0034 a0001c0001t0053 a0001c0001t0055 a0001c0001t0061 a0001c0001t0067 a0001c0001t0070 a0001c0001t0076 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0011 a0001c0002t0013 a0001c0002t0014 a0001c0002t0015 a0001c0002t0032 a0001c0002t0036 a0001c0002t0049 a0001c0002t0056 a0001c0005t0003 a0001c0005t0004 a0001c0005t0010 a0001c0005t0033 a0001c0005t0079 a0001c0006t0003 a0001c0006t0046 a0001c0008t0004 a0001c0010t0026 a0001c0012t0018 a0001c0013t0021 a0001c0014t0019 a0001c0021t0024 a0002c0003t0017 a0002c0003t0086 a0002c0003t0088 a0002c0003t0096 a0002c0004t0007 a0002c0004t0008 a0002c0004t0012 a0002c0004t0038 a0002c0004t0039 a0002c0004t0091 a0002c0004t0093 a0002c0009t0007 a0002c0009t0012 a0002c0009t0040 a0002c0029t0089	a0001c0001t0001g0155 a0001c0001t0001g0181 a0001c0001t0002g0089 others(76): Show a0001c0001t0001g0155 a0001c0001t0001g0181 a0001c0001t0002g0089 a0001c0001t0002g0194 a0001c0001t0003g0109 a0001c0001t0003g0179 a0001c0001t0003g0196 a0001c0001t0006g0051 a0001c0001t0011g0197 a0001c0001t0014g0157 a0001c0001t0014g0158 a0001c0001t0015g0059 a0001c0001t0015g0180 a0001c0001t0016g0137 a0001c0001t0016g0184 a0001c0001t0020g0183 a0001c0001t0034g0097 a0001c0001t0053g0165 a0001c0001t0055g0154 a0001c0001t0061g0090 a0001c0001t0067g0152 a0001c0001t0070g0204 a0001c0001t0076g0140 a0001c0002t0001g0034 a0001c0002t0002g0037 a0001c0002t0002g0058 a0001c0002t0002g0076 a0001c0002t0002g0083 a0001c0002t0002g0192 a0001c0002t0002g0195 a0001c0002t0002g0201 a0001c0002t0003g0094 a0001c0002t0003g0119 a0001c0002t0004g0075 a0001c0002t0004g0102 a0001c0002t0004g0167 a0001c0002t0005g0185 a0001c0002t0005g0205 a0001c0002t0011g0172 a0001c0002t0013g0096 a0001c0002t0014g0173 a0001c0002t0015g0077 a0001c0002t0032g0063 a0001c0002t0036g0118 a0001c0002t0049g0099 a0001c0002t0056g0067 a0001c0005t0003g0202 a0001c0005t0004g0110 a0001c0005t0010g0105 a0001c0005t0033g0122 a0001c0005t0033g0193 a0001c0005t0079g0220 a0001c0006t0003g0024 a0001c0006t0046g0016 a0001c0008t0004g0139 a0001c0010t0026g0053 a0001c0012t0018g0002 a0001c0013t0021g0030 a0001c0014t0019g0028 a0001c0021t0024g0008 a0002c0003t0017g0243 a0002c0003t0086g0258 a0002c0003t0088g0227 a0002c0003t0096g0225 a0002c0004t0007g0232 a0002c0004t0007g0240 a0002c0004t0007g0247 a0002c0004t0008g0233 a0002c0004t0008g0257 a0002c0004t0012g0266 a0002c0004t0012g0275 a0002c0004t0038g0238 a0002c0004t0039g0223 a0002c0004t0091g0249 a0002c0004t0093g0260 a0002c0009t0007g0255 a0002c0009t0012g0235 a0002c0009t0040g0267 a0002c0029t0089g0268	79	274	0.2883	-2054	c.938 others(19): Show c.938+58164_939-58113del	TMTC1	ENSG00000133687.16	transcript	ENST00000539277.6	protein_coding	5/17			chr12	TogoVar
GAL3ST2_chr2_241771822_241809287	241805556	ACCCTCCC others(2044): Show ACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCC TCCCCCCTCAGCCCAGGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGC CTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAG AGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAAC CCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACC TT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0013 a0003c0003t0001g0013	1	175	0.0057	-2051	c.13 others(11): Show c.1391_*3441del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1270		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805556	ACCCTCCC others(2044): Show ACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCC TCCCCCCTCAGCCCAGGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGC CTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAG AGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAAC CCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACC TT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	184	0.0054	-2051	c.-37 others(11): Show c.-3721_-1671del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3636		chr2	TogoVar
SCN3A_chr2_165082526_165209050	165158183	GTGGTTTC others(2044): Show GTGGTTTCAGGATTGTTAATCTATACTACCATTGGAAACAACTTTATCAA CTAGGGTATTGTTCCTTTTACCTTTAGTCTTACAGACTCCACTCATTTCC AAAGTTACTTAGGTTAGCATGTTATTACCCCACCACCTACAGTGAGGTCA TTTCATATTTTGCAATACATGTATATATTTTTGTCACATATTCCATTTCT TCCTGGGATCCCCAAACCTCACAAAAGATTTTTTTTTTAATTTGTATATA TTAAGATTCACTCTTTGTGTTATAAAGGTCTATGAGTTTTAACAAATGCA TTAAGTTTCATATTCACCATTATAGAATCTTAGAGAACAGGTTCTCACCC TAAAAAAAAATCCCCTTTGCTTTACCTAGATAATCCCTCACCATGAACCC CTGGAAAACACTATTTTCTTATCATCTCTGTTGCTTTGTGTTTTCTAGAA TGTCAGGTAATTGAAATCATACAGTATGTAGCTTTTTGAGGTTGGCTTTT TCTCACTTAGAAATGTGCATTTAATATTCATTAATATTTGTTTGTATCTT GATAGCTCATTTCTTTTTAATCACTCAGTAATATTTTATTGTATGGGCAT AACAATTTATTTATCTATACAACTATTGAAGGACATCTTGGTTGCTTCCA GTTTGGGGTCATTGAAGGGCATCTTGGTTACTTCCAGTTTGGGGTCATTA TGAATACAGCTGCTATAAATATTCACATGCAGGTTTTTTGTGAAGACATA AGTTTTCAAATTGATCAGCTAAATACCTAGAAGTGCAGTTGTTGGATCAT ATGGTAAGACTATGTTTATTTTGTAAGAAACCGCCAAACTGTCTTCCAAG GCGGTTGTCTAGTTTTGCATTCCCACCAGCAATAAGCAAGAGTTCCTGTT ATTCTGCATCCTCATCAGAAGTTGGTATTGCCAGATACATTTTTCAGTCA TTCTAACAGATGTGCAGTGGTAACTCCTTGTTGTTTTAGTTTGCAATTCC CTAATGACAAATGATGTCGAGTGCCTTTTTACCTCCTTAATAACCACCTG TACTATATACTCGTGTGGGGTATCTGTTCAGATCTTTTGCCAGTTTTAAA TTGGGTCATTTGTTTTCTTATTGTTGAGTTTTAAGAGTTCTTTAGATATT CTGGACACTGGTTTGTTGTTTTGTTTTGTTTTGTTTTCTTTTGAGACAGG GTATAATTCTGTTGCCCAGGCTATAGTGCAGTGGTCTGATCATGGCTCAC TGCAGCCTCGACCTCCCAGGCTCAAGTAATCCTTCTGCCTCAGCCTCCTG AGTAGCTGGTACCACAGATACACTACACCATGCCTGGCTAATTTTTTTAT TTTTATTTTTTGGAGAAACAGTGTCTCCCTATGCTGCCCAGGCCAGTCTC AAACTCTTGGGCTCAAATGATCTTCCCCTCTCAGCTTCCCAAAGTGCTGG ATTACAGGAATGAGCTACTTCACCTAGCCCCAGTCTTTTTTTTTTTTTTT TTAAATCAGATATGTGCTTTGCAAATATTGTCTTCCAGTTGCTGGTTTGT CTTTTCATTCTCTTAAGAATATCTTTGTAAAACAGCAGCTTTTAATTTTA ATAAAATACAAATCATTTATTTCTTTAATGGAATGTGCCGCTTAAATACA AAATGGTTTTGTATTTAAAACTCATCACCTGGCTCACTCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGAC CATCCTGGCTAACATGGTGAAACCTGGTATCTATTAAGAATACAAAATTA GCCGGGCGTGGTGGCGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATAGCTTGAACCCGGGAGGCGGAACTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCTAAACTCCGTCTCAAAA AAAAACAAAAACAAAAACAAAAATCTCATCACCAATGGCCAGGCGCAGTG GCTCATGCCTGTAATCCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATCA TT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00544.hp2 others(98): Show HG00140.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00642.hp1 HG00673.hp2 HG00741.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01255.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG01981.hp1 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02145.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02647.hp2 HG02735.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG04184.hp1 NA18612.hp2 NA18906.hp2 NA18942.hp1 NA18944.hp1 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp1 NA18959.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18968.hp2 NA18978.hp2 NA18981.hp1 NA18990.hp1 NA18993.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19064.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19083.hp1 NA19085.hp2 NA19089.hp1 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0011 a0001c0014 a0001c0017 a0001c0026 a0001c0029 a0002c0006 a0002c0015 a0002c0032 a0002c0033 a0006c0023 a0011c0024 a0012c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0014 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0006 a0001c0004t0009 a0001c0005t0002 a0001c0011t0001 a0001c0011t0003 a0001c0014t0001 a0001c0017t0004 a0001c0026t0012 a0001c0029t0001 a0002c0006t0002 a0002c0006t0004 a0002c0006t0010 a0002c0015t0001 a0002c0032t0004 a0002c0033t0004 a0006c0023t0001 a0011c0024t0001 a0012c0021t0001	a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0071 others(97): Show a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0175 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0002g0029 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0004g0020 a0001c0001t0015g0070 a0001c0002t0001g0128 a0001c0002t0002g0055 a0001c0002t0005g0307 a0001c0002t0007g0301 a0001c0002t0014g0073 a0001c0003t0001g0115 a0001c0003t0001g0119 a0001c0004t0001g0074 a0001c0004t0002g0026 a0001c0004t0002g0039 a0001c0004t0002g0043 a0001c0004t0002g0045 a0001c0004t0004g0008 a0001c0004t0006g0044 a0001c0004t0006g0046 a0001c0004t0006g0054 a0001c0004t0009g0009 a0001c0005t0002g0001 a0001c0005t0002g0038 a0001c0005t0002g0040 a0001c0005t0002g0041 a0001c0005t0002g0056 a0001c0011t0001g0090 a0001c0011t0003g0292 a0001c0011t0003g0293 a0001c0011t0003g0295 a0001c0014t0001g0172 a0001c0014t0001g0173 a0001c0017t0004g0021 a0001c0026t0012g0023 a0001c0029t0001g0129 a0002c0006t0002g0036 a0002c0006t0002g0037 a0002c0006t0004g0010 a0002c0006t0004g0012 a0002c0006t0004g0014 a0002c0006t0004g0015 a0002c0006t0004g0016 a0002c0006t0004g0018 a0002c0006t0010g0013 a0002c0015t0001g0206 a0002c0015t0001g0207 a0002c0032t0004g0017 a0002c0033t0004g0011 a0006c0023t0001g0111 a0011c0024t0001g0076 a0012c0021t0001g0103	101	312	0.3237	-2051	c.103 others(19): Show c.1031+2074_1032-2281del	SCN3A	ENSG00000153253.20	transcript	ENST00000283254.12	protein_coding	9/27			chr2	TogoVar
PCGF3_chr4_700832_775089	744955	TCCGTGGA others(2042): Show TCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCT GCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGG GGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGT CGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGT GTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC CGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGC TCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTG TTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGC TGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCG GGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTC GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGTTCG	T T	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0129 a0001c0003t0010g0129	1	226	0.0044	-2049	c.462 others(16): Show c.462+324_462+2372del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar

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