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	cdna cdna pos length	distance	status	chr	external
TPO_chr2_1408463_1548673	1533881	TCTGTGTG others(2764): Show TCTGTGTGCAACCTCCCCAGATCTCCTTTCTGTGCAACCTCCATAAATCC AACCAAATGTATGCAACCTCCTCAAATCCCCACCACTCTGTGCAACCTCC CCAAATCCCCATCACTCTGTGTAATCTCCCCAAATCCCCCCCAATCTGTG CAACCTCCCCAAATCCCACCACTGTGTTCAACCTCCCCGAATACCCACCA CTCTGTGCAACCTCCCCAAAACGCCCCCACTCTGTGCAACCTCCCCAAAT CCCCCCAACTGTTTGCAACCTCCCAAATCCCCCCCAATGCGAGCAACCTC CCAAATCCCCCGTGTGCAACCCCCCAATCTCCCCCACTGTGTGCAACCTC CTCAAATCCCCCATCACTCAGAGCAACCTTCTCAAATCCCCCCAATATGA GCAACCTCCTCACATCCCCCTCGCTGTGCGCAACCTCATCAAATTTTCCC ACTGTGTGCAACTTCCCTAAGTCGTCCAACTGTGTTCAACCTCCCCAAAT CCCTCCAACTGTGTGCAACCTCCCCAAATCCGCCCCCACCCTGTGCAGCC TCACAAAATTACCCCCAGTGCAATCTCAAATCCCTCCCACTCTGTGCAAA CTCCCCAAACCCCCCACGCAGTGTGCAACTTCCCCAAATCCCTCCCACTC TGTGCAACCTCCCCAAATCCCTACCACTCTGTGCAACTTCCCCAAATCCG CCCACACTGTGCAACCGCACCAAATCGCGCCACTGTGTGCAACCTCCACA AATCCCGCCCACTCTGTGCAATGTCCCCAAATACCCCCCCCACTCTGTGC AACTTCCAAAAATCCCCCACACAGTGTGCAACCTCCTCAATTCCCTCTAG TGTGTGCAACCTCCTCAAATCTCCCCCACTGTGTGCAACCTCCTCAAATA TCCCCACTGTGGGTAACCTCCCCAAATCCCCCCCACTGTGTGCAACCTCA AGTCCCCCACTGTGTGTAACCCCCCCAAATCCCACCACTGTGCACAACCT CCTCTAATCTGTTCACTGTGTGCAACCTCCCCAAATCCCTCCCCAATGTG TGCAGTCTCCTCAAATCCTCCGCCACTGTGAGCAACCTCCTCAAATCCCC CCAGTGTGTGCAATTTCCCTAAATCGCCGCAAGTGTGTACAACCTCCCCA AATCCCCCCCACTGTGTGCAACCTCCCCAAATCTCCCCCACTCTGTGCAC CTTCCCCAAATCTACCTAACTCTGTGTAACCTCCTCACATCCCCCCACTC TGTGCAACCTCCCCAAATCCCCCCCCCCCCCATTGTGGGCAACCACACCA AATCCCGCCACTTGTGCAACCTCATCAATTTCCCCCCATTCTGTGCAACC TCCCCAAATCCACCCCACTCTGTGCAACCTCCCAAAATCCCCCATACTGT ATGCAACCTCCTCAAATCCCTGTACTGTGTGCAACCTCCTCAAATCCCCC CCACTGTATGCAACCTACTCAAATCCCCCCACTGTGTGCAACCTCCTCAA ATCTCCCCACTGTGAGCAACCTCCCCAAATCCCCCTACTGTGTGCAACCT CCCCAAATCCCCCCCACTCTGTGCAACCTCCCCAAATCAGCCCCACTCCG TGCAACCTCCGCCTATCCCTCCCACTGGGTGCAACCTCCCCAAATCCCCG TGTGCCACTTCCCCAAATCACCACATTGTGAGCAACCTCCCCAAATCCCC CCACTGCGAAGACCTCCTCAAATTGCCCCGCAGTGTACAACCTCCTCAAA TCCTCCCTCGCTGTGTGCAACCTCCTCAAATCCCCCCACTCTGTGCAACC TCCCCACATGCCCCCAGTGTGTGCAACCTCCCGAAATCCACCCAGTGTGT GCAACCTCCCCAAATCCCCCCACTCTGTGCAACCTCCCGAAATCCCCCCA ACTCTGTGCAACCTCCGCCATCCCTCCCACTGTGTGCAACCTGCTCAAAT CCCCAAACTGTGTGCAACCTCCCCGAATCCCCCCAACTTTGTGCAACCTC AAGTCCCCGAATGTGTGCAACCCCCCCAAATCCCGTGTGCAACCTCCCCA AATCCCCCACACTATGTGCAACCTCCTCAAATCCCCCCACTCTGCACAAT CTCCCCAAATCCCCCCCACTCTGCGCAACCTCCTCAAATCCCCCCACTGT GTGCAACCTCCTCAAATCCCCCCACTGTGTGCAACCTTCCCAAATCCCCC CACTGTGTGCAACCTTCCCAAATCCCCCCATTATGTGCAACCTCCCCAAA TCCCCCAATCTATGCAACCTCCCCGTTCCCCCCAATGTGTTCAAGCCCCC CAAATCCCCCCACTGTGTGCAACCTCCCGAAATCGCCCCCACTGTGTGCA ACCTCCCCAAATCCCCCCAACTGTTTGGAACCTCCTCAAATCCCCCCACT GTGTGCAACCTCCCGAAATCCCCCCAACTTTGTGCAACCTCCCCAAATGC CCACTGTGTGCAACGTCCCGAAATCCCCCCCACTCTGTGCAACCTCCCCA AATCCCCGCCACTCTGTGAAACCTCCCCCATCCCTTCCAGTTTGTGCACC CCCCCAAATCCCCCCACTATGTGACACCTCCTCAAATCCCCCCACTGTGA GCAACCTCCTGAAATCCCTCTCACTGCGTGCAACTTCCTCAAATTCCTCC CCCACTCTGAGTAGCCTCCTCAAATCCCCCCCAGTGTGTGCAACGTCCCC AAATCGCCCCACTGTGTGCATTCTCCTCAAATGCCCCTAGCTTTGTGAAA CCTCCCCAAATCCCCCCCCCCA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00140.hp2 HG00323.hp2	a0001 a0011 a0001 a0011	a0001c0004 a0011c0025 a0001c0004 a0011c0025	a0001c0004t0001 a0011c0025t0002 a0001c0004t0001 a0011c0025t0002	a0001c0004t0001g0073 a0011c0025t0002g0044 a0001c0004t0001g0073 a0011c0025t0002g0044	2	111	0.0180	-2771	c.261 others(19): Show c.2619-6573_2619-3803del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16			INFO_REALIGN_3_PRIME	chr2	TogoVar
RUNDC3B_chr7_87623398_87837296	87679017	AGAAAATT others(2762): Show AGAAAATTAGTAAGGGTACAAATGATCTTGGCAATATTATCAGCCAACTG ACATTTATAAAACACCCCAACTTTTTTTTTTTTTTTTTTTTTTTGAGACA GAGTCCCGCTCTTTCCCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTC ACTGCAAGCTCCTCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCC CAAGAAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGGTAATTTTTTT GTATTTTTAGTAGAGACGGAGTTTCACAGTGTTAGCCAGGATGGTCTCCA TCTCCTGACCTCGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATT ACAAGTGTGAGCCACCGTGCCCGGCCCCCAACTTTTTTTTAAGACAGGAT CTCACCCTGTCACCCAGGTTGGAGTGCAATGGCACAATCATGGCTCACCA CAGCCTCCACATCCCCAAGCTCAAATGATTCTCCCACCTCAGGTTCCTGA GTAGCTGGGACTACAGGCACACACCACTACACCCAGCTAATTTTTTGATT TTTTATAGAGGCTAGGTCTCACTATGTTGCCCTGGCTGGTCTCGAACTAC TGGGCTCAAGTGGTCCTCTCACTTCAGCCTTTCAAAGTGCTGAGATTACA AGTGTGAACCACTGTGCCTGGCCACCCCAACATTTATAATTAACATTTAT AAAATACTCCTCAGTGGCAGAATATATATTCTTTTCGAGGGCAAGTGGAA CATTAAAAAAGATCTTATTCTGAGCCATAAAAGAAACCTTAGCAAATTTA AAAGAATTGAAATCATATAAAGTATGTTCTCTGTAATGGAATGAAACTAG ATGTCAAGAACAGAAGATATCTGAAAAATCACCAAATGTTTGAAAATGTA AAAATACACTTTTTTAAACAAATTATACTTTACATGTGCCATGGTGGTTT GCTGCACCCATCAACCTGTCACCTACATTAGGTATTTCTCCTAATGTTAT CCCTACCCTAGCCACCCACCCCTAGACAGGCCCCAGTATATGACGTTCCC CACCCTGTGTCCATGTGTTCTCGTTGTTCAACTTCCACTTATGAGTGAGA ACATGCAGTGTTTGGTTTTCTGATCTTGTAATAGTTTGCTGAGAGTGATG GTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGACCTCATCCCTTTT TGTGGCTGCGTAGTATTCCATGGTGTGTATGTGCCACATTTTCTTAATCC AGTCTATCATTGATAGACATTTGGGTTGGTTCCAAGTCTTTGCTAATAAC TCTTGGATCAAAGAGGGATTCTCGAGGAAAATTAGTCTTTTGAACTGAAT GAAAAACTAAAACGCGTTGTATCAAAATGTGTAGCATGCAATTAAAGCAG CACTTAGAAGGAAATTTAAAACATTAAAAACTTACTTAGAAAGAATTGTC TGAAATCAGTAACCTAAGCTTTCACCTTAAGAAACTAAAAAAGGGGCCGG GCCCGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGAGGCCAAGGCGAG TGGATCACCTTAGGTCAGGAGTTTAAGGCCAGCCTGACTAACATGGTGAA ACCCCGTTTCTACCAAAAATACAAAAAATTAGCCAGGCATGGTGGTGTGT GCCTGTAATCCCAGCTACTTAGGAGGCTGAAGGCAGGAGAATCACTTGAA CCTGGGAGGCGGAGGGTGCAGTGAGCCAAGATCGCGCCATTGCACTCCAG CTTGGGCAAGGAGTGAAACTCCATCTCAAAAAAAAGAAAAGAAAAGAAAA AAGAAAAAGAAACTAAATAAAGAAGGGAAAATTAAACCCAAAACAAGCAA AATGGAGGAAATAATAGATAAAAGCAGAAATCAATGAAATTAAAAACAAA AACAATAATTGGTGATATGAAAGGATGATTGCTTGAAATCATTAATAAAA TTCATAAACTTCTGGTTAGGCTGATCAAGAAAATGAGAAAGGATACAAAT TTCCAATATCAGGAATGAAAGAGGGCATATGACTACAGACCTTACATTCA AAGGATAAAAAGTTAATTGTGGAGGAAATGGGCCAATTTCTTGAAAGACA AATCCTAACAAAACTCATAAAGAAGTAGATAACACAAATAGTCCTATATC TATTAAAGAAGTTGAATCAGTATTTAAAACCTTCCAACAATGAAAACTCC AGGCCTAGATATTTTTGCTGTTGATTGCAACCAGCCATTAAGGTAATAAT AGTAATCCTATTCAATCCATCTCAGAAAATAGGAGATAACATTTCTCAAC TCATTTTATAAGGAAACTATTAGCCTGATACAAAATTAGACAAAATATTA CAAGAAAAGGAAACTCTACTCATACTGAGGTATATTGCTTGTTCAGTTCA AGACTAATTCAATAAAGTAAATATTGCTATAAAGCAAGTCACAAAAAATT TTTGGTTTCCCCAGTGCGTATTAAAAGTTGTATTTACACTACACTGTAAT CTATTAAGTGTGTAATAGCATTATGTCTAAAAAATGTACATACCCTAATT AAACTACTTTACTGCTAAAAATGCTAACAATCATCTGAGCCTTCAGCAAG TCATTACCTTTTTGCTGGTGGAGGGTCTTGCCTCAATATTGATGGCTGCT GACTGATTGATGTGCTGGCTGCTGAAGGATGGGGTGGATATGACAATGTC TTAAGACAACAATGGGCTGGGCACAGTGGCTTACAGCTATAATCCCAGCA CTTGGGAGCCAAGGCAGGAG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01123.hp1 HG01192.hp1 others(35): Show HG01081.hp2 HG01123.hp1 HG01192.hp1 HG01358.hp1 HG01496.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG02129.hp1 HG02258.hp2 HG02559.hp2 HG02622.hp2 HG02717.hp1 HG02818.hp1 HG02895.hp2 HG02965.hp1 HG02970.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03654.hp1 HG04199.hp1 NA18522.hp2 NA18906.hp1 NA18940.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18994.hp2 NA19001.hp2 NA19005.hp2 NA19030.hp2 NA19056.hp1 NA19063.hp2 NA19083.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 others(15): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027 a0001c0001t0035 a0001c0001t0038 a0001c0001t0041 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0074 a0001c0001t0076 a0002c0002t0002 a0002c0002t0018	a0001c0001t0002g0030 a0001c0001t0002g0137 a0001c0001t0002g0162 others(35): Show a0001c0001t0002g0030 a0001c0001t0002g0137 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0178 a0001c0001t0002g0200 a0001c0001t0012g0031 a0001c0001t0012g0174 a0001c0001t0012g0176 a0001c0001t0012g0177 a0001c0001t0013g0001 a0001c0001t0013g0149 a0001c0001t0013g0173 a0001c0001t0018g0171 a0001c0001t0018g0175 a0001c0001t0020g0033 a0001c0001t0020g0035 a0001c0001t0021g0028 a0001c0001t0021g0032 a0001c0001t0022g0181 a0001c0001t0022g0182 a0001c0001t0027g0165 a0001c0001t0027g0180 a0001c0001t0035g0034 a0001c0001t0038g0183 a0001c0001t0041g0001 a0001c0001t0044g0169 a0001c0001t0046g0161 a0001c0001t0047g0172 a0001c0001t0074g0170 a0001c0001t0076g0179 a0002c0002t0002g0029 a0002c0002t0002g0036 a0002c0002t0018g0140	38	200	0.1900	-2769	c.239 others(19): Show c.239-21401_239-18633del	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	2/10			INFO_REALIGN_3_PRIME	chr7	TogoVar
ARHGEF10_chr8_1818926_1963641	1887479	ACACTGAG others(2759): Show ACACTGAGTGGGGTGTGAGGGGTCTGTGAGGAGACCCTGAGTGGGGTGAG GGATACGTGAGGAAACACTGAGTTGGGTGAGGAGTCTGTGAGGAGACTGA GTGAGGTGAGGGGTCTGTGAGAAGTCCCTGAGCAGGTGAGGGTTGTGAGG AGACTGTGAGTGAGCTGAGAGTCTGTGAGGAGACACTGAGTGCAATGTGA GGGGTCTGTGAGGAGACAGTGAGTGGGATGAGGGTTTGTGAGAAGACGCT AGATGGGATGAGGGTTTTGAGGAGACACGGAGTGGGGTGAGGGTTGTGAT GAGACAGTGAGTGGAGTAAGGGTTGTGGGGAGATGCTGAGGAGAGGTGAA AGTTCTGAGGAGACACTGAGTGGGATGTGAGGGGTCTGTGGGGAGTCACC AAGTGCCGTGAGAGTTGCAAGGAAACACGGAGTGGGGTGCGGGTCATCAG GAGACAGTGATTGGGGTGAGGGGTCTGTGATGAGACACTGTGAGTGGGGT GAGAGTTGTGAAGAGACAGTGAGTGGGGTGAGCTTTGTTAGGAGGCACTG AGTAGGGTGAGGGTTGTTAGGAGACAGTGAGTGGGATGAGGGTTTATGAG GAGACACTAGGTAGGGTGAATGTTTTGAGGAGACACTTAGTGGGGTGAGG GTTTGCGAGGAGACACTTAGTGGGGCGAGGGTTGCGAGGAGACAGTGAGT GGGGTGAGGGTTTGCGAGGAGACACTTAGTGGGGCGAGGGTTGCGAGGAG ACAGTGAGTGTGGTGAGGGTTGCGAGGAGATGCTGAGTGGGGCTGTAGGT TCTGAGGAGGGGTGGGGTGAGGGTTTGTGAGGATATGCTGAGTGGGATGT TGACTGTGAGGAGACACTGAGTGGGGTGAGGGTTGTGAGGAGATACTGAG GTGATAGTTTTGAGGAGACAGTGGGGTGAGAGTTGTGAGGAGACACTGAG TGTGGAGGGCTGTGAGGAGGCACTGAGTGGGGTGAGGGGTATTGAGGAGA CACTGAGTGGGGTAAGAAGTCTGTGGAGATACTGAGTGGGGTGAGGGGTC TGTGAGGAGACGCTGAGTGGGGTGAGGTATGGGGAGACACTGAGTGGGGT GTGAGGGGTCTGTGAGGTGTCACTGAGTGTGGTGAGGTTTGTGAGGAAAC ACAGAGTGTGGTAAGGGTCCTGAGGAAACACTGAGTTGGGTGAGGGTTTG TGAGGAGACACTGAATAGGGTGAGGTTTGTGAGGAGACACTGAATAGGGT GAGGTTTGTGAGGAGACACTGAATAGGGTGAGGTTTGTGAGGAGACACTG AGTGGGGTGAGTATTGTGAGGAGACACTGAGTGGGGTGAGAGTTATGAGG AGACACTGAATAGGGTGAGGTTTGTGAGGAGACACTGAGTGGGGTGAGAG TTATGAGGAGACACTGAGTTGGGTGAGGGTTGTGAGGAGACAGTGGGGTG AGGGGTCTGTGACGAGACACTGAGTGGGGTGAGGGGTCTGCGAGGAGACA CTGAGGTGTGAGGGGTCTACAAGGAGTCACGGAGTGCAGTGAGAGTTGTG AGGAAACATGGAGTGGGGTGCGGGTCATGAGGAGACAGTGATTGGGGTGA GGGGTCCGTGAGGAGACACTGAGTGGGGTGTGAGGGGTCTGTGAGGAGAC ACTGTGAGTGGGGTGAGGGTTGTGAGGAGACGCTGAGTTGGGGGGTTGTG AGGAGAGCGTGGGGTGAGGTTTATTAGGAGACACTGAATGGGGTGAGGGT TGTGAGGAGACATTGAGTGGGATGAGAGGTGTGAGGAGACACTGAATGTG GTGAGGGTTTGTGAGGAGATACTGCATGGGGTGAGCTTTCTTAGGAGACA CTGAGTGGGTAAGAGTTGTGAGGAGACACTGAGTGGGGTGAGGGGTATGT GAGGAGACAGTGATGTGAGGCATCTGTGAGGAGACACTGAGTGGGGTGAG GGGTCTGTGAGGAGACACTGAGTGGGGTGAGGGGTCTGTGAGGAGACACT GAGTGGGGTGAGGGGTCTGTGAGGAGACACTGAGTGGGGTGAGGGGTATT GAGGAGACACTGAGTAGGGTAAGGAGTCTGTGTGGAGACACTGAGTGGGG TGAGGGGTTTGTGAGGAGACACTGAGTGTGGGTGAGGGGTCTGTGAGGAG TCATGGAGTGTGGTGTGAGTTGTGAGAAAACTCGGAGTGGGGTGAGGGTC GTGAGGAAACAGTGGGGTGAAGGTTTGTGAGGAGACCCTGAGTGGAGTGA GGGTTGCGAGGAGACATTGAGTGGGATGAGGGTTGTGAGGAGACACTGAG TGGGGTGAGGGTTGTGAGCAGACACTTCATGGGAGGAGGGTTTGTGAGAA GACACTAGGTGGGGTGAGGTTTGTGAGGAGACACTGAGTGTGGTGAGGGT TTGTGAGGAGACACTGCATGGGGTGAACTTTGTTAGGAGGCAGTGAGTGG GGCGAGGGTTGTGAGGAGACACTGAGTGGGGGAGGGGTATGTGAGGAGAC ACTGAGTGATGTGAGCAATCTGTGAGGAGACACTGAGTGCGGTGAGGGGT ATTGAGACACTGAGTGGGGTAAGGAGTCTGTGCGGAGACACCGAGTGTGG TGTGAGGGGTCTGTGAGGAGTCACCGAGTGCCGTGTGAGTTGTGAGAAAA CGGAGTGGGGTGAGGGTTTGTGAGGAGACACTGAGTGGGGTGAGGGTTTG TGAGGAGACACTGAATAGGGTGAGGGTTGTGAAGAGACACTGAGTGGGGT GAGGGTTTGTGAGGAGG	A A	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0003 a0002c0030t0003	a0002c0030t0003g0123 a0002c0030t0003g0123	1	362	0.0028	-2766	c.118 others(19): Show c.1182+1780_1183-3317del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28			INFO_REALIGN_3_PRIME	chr8	TogoVar
FADS6_chr17_74872302_74898633	74884394	GGGATATA others(2758): Show GGGATATACTTATACAAAAATATTGGTTGTCTGAAATTCAAATTCATCAA TGTGTGTTAGGCCATTCTTGCATTGCTAAAGAAATACCTGAGGCTGGGTA GTTTGTAAAGAATAGAGGTTTCACGGGCTCAGCGTTCTGCAGGCTGCACA GGAAGCTTGGTAGGGAGGCCTCAGGACGCTTGCAATCATGGCAGATCACA ATCGTGACAACCGTGGCAGAAGTCCACAGGGAAGGGGAAGAGGGAGCAGG CAGTGACATGATGAAAGCAGGAGCAGCGAGACGGGGATAGGGGTGCCACA CACTTTTCAATGACCAGATCCTTTTTCTTTTTTTTTCCGAGTCTTGCTCT CTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCTCC ACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGG ATTATAGTCACACGCCACCACACCCAGCTAACTTTTTATATTTTTAGTAG AGACGGAGTTTCGCCACGTTGGCCAGACTGGTCTCGAACTCCTGAACTCA AGTTATCCACCCGCCTCGGCCTCCCAAAATGCTGGGAATACAGCGTGAGC CACTGCGCCCAGCCTAAATGACCAGATCTTTTGAGAACTCACCGTCACTC TCACCAAGACAACACCAAGGGGATACTGCCAAACCATTCATGAGAAACCC CTCCATGATCCAGTCACCTCCCACCAGGCCCCACCTCCTCCTCACTGTGC AGTAGCAGCAGCAGCTGGCCACTGGGGTTACTGCCTTTGTTGGCAAACTT GGGTTTATCTGCCTGTAGACAAGTCTCTCTCACACCAACAGAACTACCAG TACTTCCAAAACCAACTCACCTGATCTGCAACTCAAAGGCATTTTTTTAA GAAAACCACAAAAAAAAAAAATAAATAAATAAATATTACATTTCATCCTG AGATTTAGGTGGGACAAACATCAAAATCATATCACTGGACTTTTTGTATT TTACCTAGAAAACCTACTACTGAGGTCCATGGAGCCCCAGAAGCCCCCAG CATTCTGAAGCCAGATGTGAAGGGGCTGCTCATGCTGTGGGAGCCAGCAA GAGTCTGGAGAGAGGAACGGAAGCTACGCAGATCCAGCCCGGAAGCCCTC CTGCCAGACCAACGCTGCCCCTCTGACGACCCTCAATCCCTCTTTCTCAT CCTGGTCATTCCTGCTGCCCACCACTCCTGCACCTCTTCCTTCTCCCCAC AGATACCACCCAGACAACCACCACCTACACCCTCCTCCTTGAACCCCATC CCTGCCCGTCTGTCCTTACCATCTCTCAGCCTGCCCATGCCAACACCTTC GTCCCATCTTCTGCCTTGTCTGCCTCAAATCCAGTAGAGTGACACAGTTA AAACCCAAAACTGCATCATAATTTCATAATTATGGTCTTAATCCTGTAGT GTACTGTTTGTTTAAAAACTAAATGAGGGGCCAGGCGTGGTAGCTTATGC CTGTAATCCCAGCACTTTAGGTGGCCAAGGCAGGCAGATCACTTGAGGTC AAGAGTTCAAGACCAGCCAGGCGCAGTGGCTCACGCCTGTAATCTCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGATCAGGAGATCGAGACCAT CCTGGCTAACACAGTGAAACCCCGTTTCTACTAAAAATACAAAAAATTAG CTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGTCATGAACCTGGGAGGTGGAGCTTGCAGTGAGCGGAGATC CCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGATTCCATCTCAAAAA AAAAAAAAAAAAAGAGTTCAAGACCAGCCTGGCCAACATGGGGAAACCCC TACTAAAAATACAAAAATTAGCAGAGCGTGGTGGTGCACGCCTGTACTCC CAGCTACTTGGGAGGCTGAGGTAAGAGAATCACTGAAACCCACGAGGTGG AGGCTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAATAC AGTGAAATCCTGTCTAAAAAAAAAAAAAAAAAAAAAAAAACTAAAAGAGG AAAATATTAGAGAAGAACATAGAAGAAGAGACTGATAACCTCCAGCCATC ATCTTCCAGGAGGAAATGGGACATCTGCAGAAAGGGGTAGGACAAAGACC TCTCCCGATGCTTTTTGAATTCTGAATCATGTAAACACATTACCTATTTG AAAAATAAGTTAGTTTTGAAAACTACCAACTTAGATTACCACCTTTGGCC ACAAGACCAAGTTCCAGGTCCTCTGCCTGCCATACGCCCCCTTTCCCCTC TCCAGGGTCCCCATTGGATTCTGGTGACCCCTGATTCCTGAGGGTCCCTC ATGCACTGTACTGCTTCCCACAGCCTTTGTCCATACATTTGTTCTGTCTG AAGCCACCTTCCTGCTCCTTAGTTTGGCCAACTCTGTCCTGATAGCATCT CCCCTGGAAACCGTCCCTGGAGTTTCTCAGCCCTGCATGATTCACATTTG GGACTCGGGCACTTTTTGTGTCAGGGACTGTCCTGTGCACTGTACGACAT TTAGCAATGTCCCTGGCCTCTACACACTAGATGCCAGTAGCATGCACACG CACACACACTCCAGTCTTTTTTTTTTTTTTTTTTTGAGACAGACTTTTAC TCTGTTGCCCAGGCTGGAGTATGGAGTATATGGAGTATAGTGATAAAATC TTGGCTCACAGAAGGC	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0049 a0003c0005t0001g0049	1	438	0.0023	-2765	c.412 others(17): Show c.412-4449_412-1685del	FADS6	ENSG00000172782.13	transcript	ENST00000612771.5	protein_coding	2/5				chr17	TogoVar
DENND1B_chr1_197499748_197780480	197531378	TAACAAAT others(2756): Show TAACAAATCTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTCATTTAT TTTTATTTTATTTTATTTTATTTTTTTTATTATACTCTAAGTTTTAGGGT ACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCT GGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAA TACTATCCCTTCCCCCTCCCCCAACCCCACCACAGTCCCCAGAGTGTGAT ATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGA GTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGA CTGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATC ATTTTTTATGGCTGCGTAGTATTCCATGGTGTATATGTGCCACATTTTCT TAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCT ATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCA GCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGT CAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTC CACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCC TATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGA TTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGC ATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGGC TGCATAAATGTCTTCTGAATAGACCAATAACAGGCTCTGAAATTGTGGCA ATAATCAATAGTTTACCAACCAAAAAGAGTCCAGGACCAGATGGATTCAC AGCCGAATTCTACCAGAGGTACAAGGAAGAACTGGTACCATTCCTTCTGA AACTATTCCAATCAATAGAAAAAGAGGGAATCCTCCCTAACTCATTTTAT GAGGCCAGCATCATTCTGATACCAAAGCCAGGCAGAGACACAACCAAAAA AGAGAATTTTAGACCAATATCCTTGATGAACATTGATGCAAAAATCCTCA ATAAAATACTGGCAAACCGAATCCAGCAGCACATCAAAAAGCTTATCCAC CATGATCAAGTGGGCTTCATCCCTGGGATGCAAGGCTGGTTCAATATACG CAAATCAATAAATGTAATCCAGCATATAAACAGAGCCAAAGACAAAAACC ACATGATTATCTCAATAGATGCAGAAAAGGCCTTTGACAAAATTCAACAA CCCTTCATGCTAAAAACTCTCAATAAATTAGGTATTGATGGGACGTATCT CAAAATAATAAGAGCTATCTATGACAAACCCACAGCCAATATCATACTGA ATGGGCAAAAACTGGAAGCATTCCCTTTGAAAACTGGCACAAGACAGGGA TGCCCTCTCTCACCGCTCCTATTCAACATAGTGTTGGAAGTTCTGGCCAG GGCAATCAGGCAGGAGAAGGAAATAAAGGGTATTCAATTAGGAAAAGAGG AAGTCAAATTGTCCCTGTTTGCAGACGACATGATTGTTTATCTAGAAAAC CCCATGGTCTCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAA AGTCTCAGGATACAAAATCAATGTACAAAAATCACAAGCATTCTTATACA CCAACAACAGACAAACAGAGAGCCAAATCATGGGTGAACTCCCATTCACA ATTGCTTCAAAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGT GAAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCAAGGAAATAAAAG AGGACACAAACAAATGGAAGAACATTCCATGCTCATGGGTAGGAAGAATC AATATCGTGAAAATGGCCATACTGCCCAAGGTAATTTACAGATTCAATGC CATCCCCATCAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTA CTTTAAAGTTCATATGGAACCAAAAAAGAGCCCGCATTGCCAAGTCAATC CTAAGCCAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACT ATACTACAAGGCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACA GAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAATGCCGCAT ATCTACAACTATCTGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGG AAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATAT GTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAAT TCAAGATGGATTAAAGATTTAAACGTTAAACCTAAAACCATAAAAACCCT AGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCGTGGGCAAGGACT TCATGTCCAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAA TGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCAT CAGAGTGAACAGGCAACCTACAAAATGGGAGAAAATTTTCGCATCCTACT CATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATT TACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAA CAGACACTTCTCAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(262): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19072.hp1 NA19072.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0009 a0002c0004 a0003c0005 a0004c0006 a0005c0008 a0006c0012 a0007c0010 a0008c0011 a0009c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(49): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0051 a0001c0001t0053 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0016 a0001c0002t0017 a0001c0002t0044 a0001c0002t0046 a0001c0003t0026 a0001c0003t0027 a0001c0003t0050 a0001c0003t0052 a0001c0007t0005 a0001c0009t0003 a0002c0004t0010 a0003c0005t0017 a0004c0006t0002 a0004c0006t0043 a0005c0008t0030 a0005c0008t0031 a0006c0012t0037 a0007c0010t0002 a0008c0011t0049 a0009c0013t0002	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0059 others(261): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0276 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0023 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0041 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0129 a0001c0001t0003g0132 a0001c0001t0003g0200 a0001c0001t0003g0242 a0001c0001t0003g0274 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0016 a0001c0001t0005g0017 a0001c0001t0005g0146 a0001c0001t0005g0147 a0001c0001t0005g0181 a0001c0001t0005g0190 a0001c0001t0005g0270 a0001c0001t0006g0034 a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0039 a0001c0001t0006g0042 a0001c0001t0006g0043 a0001c0001t0006g0054 a0001c0001t0007g0018 a0001c0001t0007g0260 a0001c0001t0007g0261 a0001c0001t0007g0262 a0001c0001t0007g0264 a0001c0001t0007g0265 a0001c0001t0007g0266 a0001c0001t0008g0140 a0001c0001t0008g0141 a0001c0001t0008g0142 a0001c0001t0008g0143 a0001c0001t0008g0144 a0001c0001t0008g0145 a0001c0001t0009g0247 a0001c0001t0009g0248 a0001c0001t0009g0250 a0001c0001t0009g0251 a0001c0001t0009g0252 a0001c0001t0009g0259 a0001c0001t0011g0164 a0001c0001t0011g0194 a0001c0001t0011g0217 a0001c0001t0011g0220 a0001c0001t0012g0230 a0001c0001t0012g0231 a0001c0001t0012g0232 a0001c0001t0012g0233 a0001c0001t0014g0024 a0001c0001t0014g0031 a0001c0001t0014g0032 a0001c0001t0015g0271 a0001c0001t0015g0272 a0001c0001t0015g0273 a0001c0001t0021g0015 a0001c0001t0021g0222 a0001c0001t0022g0040 a0001c0001t0022g0153 a0001c0001t0023g0130 a0001c0001t0023g0131 a0001c0001t0024g0157 a0001c0001t0024g0158 a0001c0001t0025g0168 a0001c0001t0025g0246 a0001c0001t0028g0020 a0001c0001t0028g0021 a0001c0001t0035g0014 a0001c0001t0036g0033 a0001c0001t0038g0166 a0001c0001t0039g0185 a0001c0001t0040g0183 a0001c0001t0041g0182 a0001c0001t0042g0203 a0001c0001t0045g0162 a0001c0001t0047g0212 a0001c0001t0048g0025 a0001c0001t0051g0263 a0001c0001t0053g0191 a0001c0002t0002g0062 a0001c0002t0002g0071 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0094 a0001c0002t0002g0098 a0001c0002t0002g0100 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0111 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0160 a0001c0002t0002g0180 a0001c0002t0002g0201 a0001c0002t0002g0277 a0001c0002t0003g0073 a0001c0002t0003g0249 a0001c0002t0004g0077 a0001c0002t0004g0092 a0001c0002t0004g0093 a0001c0002t0004g0095 a0001c0002t0004g0096 a0001c0002t0004g0097 a0001c0002t0004g0102 a0001c0002t0004g0104 a0001c0002t0004g0112 a0001c0002t0004g0121 a0001c0002t0004g0122 a0001c0002t0016g0123 a0001c0002t0016g0127 a0001c0002t0016g0128 a0001c0002t0017g0101 a0001c0002t0044g0099 a0001c0002t0046g0072 a0001c0003t0026g0069 a0001c0003t0026g0070 a0001c0003t0027g0199 a0001c0003t0027g0215 a0001c0003t0050g0189 a0001c0003t0052g0138 a0001c0007t0005g0154 a0001c0007t0005g0258 a0001c0009t0003g0019 a0002c0004t0010g0004 a0002c0004t0010g0005 a0002c0004t0010g0006 a0002c0004t0010g0007 a0003c0005t0017g0210 a0003c0005t0017g0275 a0004c0006t0002g0090 a0004c0006t0043g0091 a0005c0008t0030g0003 a0005c0008t0031g0002 a0006c0012t0037g0139 a0007c0010t0002g0103 a0008c0011t0049g0110 a0009c0013t0002g0126	265	278	0.9532	-2763	c.151 others(19): Show c.1515+5823_1515+8585del	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	20/22				chr1	TogoVar
RANBP10_chr16_67718070_67811560	67788283	TGCTCTGT others(2754): Show TGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCAATGCA AGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCTCGAGTA GCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTTGTAT TTTTTTAGTAGAGAGGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGCGTGAGCCAGCGCGCCCAGCCCTTTTTTTTGTATTTTTAGTAAAGACG GTGTTTCAACATATAACCAGGATGGTCTTGATCTCCTGACCTCGTGATCT GCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCT CCTGCCCCCAAAATTTTTTTTTAAATTAGTCAGGCAGGACGCGCACAGTG GCTCACACCTATAATTCCAGCACTTTGGGAGGCCGAGACGGGCAGATCTC TTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAACTCCATCT CTACTGAAAATACAAAAATTAGCCAGGTGTGGTGGCACACGCCTATAGTC CCAGCTACTTGGGAGGCTGAGGCAGGGGAATAGCTTGAACCGAGGTGGAG GCTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAG TGAGACTCCGTCTCAAAAGAGGAAAAAAAAAAAATTATCCAGGCAGGCCG GGCACAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCGG GCAGATTACTTGAGGTCAAGAATTCAAGACCAGCCTGGCCAATATGGTGA AATGCCATCTCTACTAAAAATACAAAATTTAGCCAGGTGTGGTGGTGCAC GCCTGTAGTCTCAGCTAGTCAGGAGGCTGAGGCAGGGGAATAGCTTGAAC CTGGGAGGTAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGC CTGGGCACCAGAATAAGACTCCATCTCAAAAAAAAAAAAAAATGTACCCA GGCATGGTGGCATATGCCTGCAATCCTAGCTACTACTCAGGAGGCTGTGG CTAGAGGATTTCTTGAGCCTAGGAGCTCAAGGATACAGTGAGCCATGATT GTGCCACTGCACTCCAGTCTGGGCAACAGAACAAGACCATATTTCTTTTT TTTTTGAGATGGAGTCTCACTCTGTTGCCTAGGCTGGAGTGCAATGGCAC CATCTCGGCTTGCTGCAACCTCCACCTCCTGGATTCAAGTGATTATCCTG CCTCAGCCTCCCAAGTAGCTGGGATTATAGGCACACACCACCACGCCTGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGG CTGGTCTCAAACTCATGACCTCAGGTGATCCACCCATCTCAGTCTCCCAA AGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGACAACCATATATCT TAAAAACAACTAAATAAATAAATAAGAAGAAATGGACTGGGCGCAGTGGC TCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGCGGATCACGA GGTCAGGAGTTCAAGATCAATCTGACCAACATGGCGAAATCCCATCTCTA CTAAAAATACAAAAATTGGCTGGGCGTGGTGGTGCACACCTGTAATCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATTGCTGAACCTGGGAGGCGGAGG TTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAAT GAGACTCTGTCTCAAATTAAAAAAAAAAAAGAAGAAGAAGAAATGAAGTT ATGAAACATGCCACAACACAGATAAACCTTGAAAACATAATGCTATGTGA AATGGGTCAGACACAAAAGGACCAATATTGTAGGATTCCCCTTACATGAA CTATCAAGAATAAGCAAATTCATAGAAACAGAAAGTAGATCAGAGGTTAA CAGGGACTAGGAGGAAGGAGAAATGGAGAATTACTGCTTAATGGGTACAG AGTTTCTGTTTGGGGTGATGGAAAAGTTCTAGAAATAGACAGTGATATGG TGATGGTTGCACAACATTGTGGATGCAATTAATACCACTGAATTACACAC TGAAAATGGATAAAATGGCATATTTTATGTTACATATATTTTACCACACA CACATACACAGAGACACCAAGAACACCCCTATGGCCCTGCAAACCAGCAA GGACCGCATCTGGCTTTTCCCGATGAGACAAGGGAGGCCCTGGCACAGAG CACAATGGGCAGCATAAGAGTATTCTGGCCTCACATTGGGGCCAGAAGTC CCGCACTTAGCCCACAGCAAATGACAAGAGTGAAGAAGGACCCAACTGTT TCTACTTTTACCAATTTTTTATTTTTTTATTTTTTGAGATGGAGCCTCAA TCTGTTGCCTAGGCTGGAGTGCAGTGGCACAGTCTTGGCTCACTGCAACC TCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGCTGCT GGGATTACAGGCACTCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGT AGAGACGGGGTCTCATCATGTTGACCAGGCTGGTCTCAAACTCTTGACCT CATGATCCACCCACCTCAGCCTCCCAAAGTGCTGTGATTACAGGCATAAG CCACAGAGCCTGGCCAGTTTTACCAATTTATTTCTTTTTTTTTTTTTTTG AGACAGAGTCTC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA19030.hp1 HG02257.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0005g0147 a0001c0001t0005g0148	2	150	0.0133	-2761	c.347 others(19): Show c.347+14384_348-16198del	RANBP10	ENSG00000141084.12	transcript	ENST00000317506.8	protein_coding	2/13				chr16	TogoVar
ANO5_chr11_22188085_22288357	22285597	AACAAACA others(2753): Show AACAAACAGAAAGGACATCCACACCAAAAACCCATCTGTACATCACCATC ATCAAAGACCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAAC AGAAAAACTGGAAACTCAAACGCAGAGTGCCTCTCCTCCTCCAAAGGAAC GCAGTTCCTCACCAGCAACGGAACAAAGCTGGATGGAGAATGACTTTGAC GAGCTGAGAGAAGAAGGCTTCAGACGATCAAATTACTCCGAGCTATGGGA GGAAATTCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAATTTAGG CGAATGTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGA TGGAGCTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTC AGGAGCCAATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGA AATGAATGAAATGAAGCAAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAA GAAATGAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAAC CTACATCTGATTGGTGTACCTGAAAGTGACGGGGAGAATGGAACCAAGTT GGAAAACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAA GGCAGGCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATAC TCCTCGAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGT TGAAATGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTTGGGTTA CCCTCAAAGGGAAGCCCATCAGACTAACAGCAGATCTCTCAGCAGAAACC CTACAAGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAA GAATTTTCAACCCAGAATTTCATATCCAGCCAAACGAAGCTTCATAAGTG AAGGAGAAATAAAATACTTTACAGACAAGCAAATGCTGAGAGATTTTGTC ACCACCAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGA AAGGAACAACTGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGAC CATCAAGACTAGGAAGAAACTGCATCAACTAACGAGCAAAATCACCAGCT AACATCATAATGACAGGATCAAATTCACACATAACAGTATTAACTTTAAA TGTAAATGGACTAAATGCTCCAATTAAAAGACACAGACTGGCAAATTGGA TAAAGAGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCATG GGCAGAGACACACATAGGCTTAAAATAAAAGGATGGAGGAAGATCTACCA AGCAAATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGACA AAACAGACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTAC ATAATGGTAAAGGGATCAATTCAACAAGAAGAGCTAACTATCCTAAATAC ATATGCACCCAATACAGGAGCACCTAGATTCATAAAGCAAGTCCTGAGTG ACCTACAAAGATACTTAGACTCCCACACATTAATAATGTGAGACTTTAAC ACCCCACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGA TACCCAGGAATTGAACTCAGCTCTGCACCAAACGGACCTAATAGACATCT ACAGAACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCA CACCACACCTATTCCAAAATTGACCACATACTTGGAAGTAAAGCTCTCCT CAGCAAATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACA GTGCTATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAACCGCTCA ACTACATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGATACATAA CGAAATGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAG ACACAACATACCAGAATCTCTGGGACGCATTCAAAGCAGTGTGTAGAGGG AAATTTATAGCACTAAATGCCCACAAGAGAAAGCAGGAAAGATCCAAAAT TGACACCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACAC ATTCTAAAGCTAGCAGAAGGCAAGAAATGACTAAAATCAGAGCAGAACTG AAGGAAATAGAGACACAAAAAACACTTCCAAAAATTAATGAATCCAGGAG CTGGTTTTTTGAAAGGATCAACAAAATTGATAGACCACTAGCAAGACTAA TAAAGAAAAAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGATAT CACCACCCATCCCACAGAAATACAAACTACCATCAGAGAATACTACAAAC ACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTCCTC GATACATACACTCTCCCAAGACTAAACCAGGAGGAAGTTGAATCTCTGAA TAGACCAATAACAGGAGCTGAAATTGTGGCAATAATCAAAAGCTTACCAA CCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAGAGG TACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAATAGA AAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGG TACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCAATA TCCTTGATGAA	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01243.hp2 HG01256.hp1 others(3): Show HG00642.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG02965.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0023 a0001c0001t0009g0294 a0001c0001t0009g0296 others(2): Show a0001c0001t0009g0023 a0001c0001t0009g0294 a0001c0001t0009g0296 a0001c0001t0009g0297 a0001c0001t0009g0298	6	362	0.0166	-2760	c.58 others(11): Show c.5833_*8592del	ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding			2241		chr11	TogoVar
SULT2B1_chr19_48547172_48604423	48548161	ACTATTGG others(2751): Show ACTATTGGATGCCTGGATGAATGGATGAGTGGATGCATGGATGGATGGAT GGATGGATGGATGGATGGACGGATGGTCGAATGGATGGGTAGATGGTTGG ATGGATGGATGAATGGATGGAGGATGCATAGAAAGATGGATGCATAGATG GCTGGTTGAATGGATACCTGGCTGAGTGGATGAATAGAGGATGGATGGAT GGATAGAAGGATGGTTGAGTAGATGCTTGGATGGATGAATGGATAGACAG TGATGAATGGATGGCAGGATGGATGGATGAATGGATAGATGAAGGAATGG TTGGGTGATGGATGAATAAATGGCTGAATGAATGCAGGATGGATGGATAG ATGGATGGTTGGATGGTTGGGTGGCTAGATGAATGGATGGAAAATGGATG GATGGGTGATGGATGGCTGGATAGATGGATGGTTGAGTAGATGGTTGGAT GGATGAATGGATGGATAGATGATGAATGGATGAAGAGGTGGATGGTTTGA TGGCTGATGAATGGATGGAGGGATGGATGGTTGGATGGGTAGATAGATGG ATGTTGAATGGATGATTGGATAAGTGGTTGGGTGGCTGAATGAATGGTTG GGTGGATGGTCGGGTGGATGGATGATGGATGAATAGAGGGACAGGTGGAT GCATAGATAGAGGGATGAACAGCTGGAGGGATGAATGGATGTATAATCCT TGCTCCTCTCACTACCCATGACCAAGTGGCTCTGGGTTTTCCACTTGCAT TTTCCCACACTCTTCATCTTTTTTTTTTTTTTTTTTTAATTGAGACCGAG TCTTGCTCTGTTGCCCAGGCTGGAGCACAGTGGCACAATCTCGGCTCACT GCAATCTCCACCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCCTCCTGAG GAGCTGGGATTATAGGCACCCACCACCACTCCCGGCTAATTTTTGTATTT TTAGTAGAGACGGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCC GACCTCGTGATCCACCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGC ATGAGCCACCAAGCCCAGCCCACTCCTTCATCCTTCTGGTCTCGTCCTTG TCTCCCAGATGTCCAAGACCCTCAGATTCATTTCTGGGGGTTGATGGTCT CCACTAGTATCTCTGCACTCTCACAATTGGCTAAAATGTCACTCTGGTGT CTTCTGGTTCCTCCTTGCCACCTCTGTAGGAGTCTGGACCCCTCGCCTTC CAGAATCAGGCTTTTGCATCTCCTCAGCTCCCTCCTCATTCTCCACAGAG ATTCAGTGGACTTCTCCTGGCACCACCATGACCTTCACTCATTCCATCAC GTCTTCCTGTGACAATTCATTCATTCCATCAACAGGCACTTATTGAGCAT TTACTATATTCCAGGCTCTTCCCTTGGGAAATAACCGCAGATTTGACATA GAACAAGCCCTTCTTTCATGGGGTTGACAGTCTAGTGGGGAGATAGATGG TAAACAAGACAAAGAAGCAAAACATTTAGGAGGTCAGATGGTGACGAGTG CTATGGGAAAAAGTAAAACAGGAAAGAGGAATGGAGAAGTTGGTGGACGA GCCTGGGGGAGGTGACACTGGGCAGAGTCAGACGATAGGAGCCCACGAAG CTCCCAGGTATCAGGAACATGCGGGAATAGCAAGGGCAAAGGCCCTGCAG TAGGAGCCTCCCCTGGGTCTTAGGCCGCCTAGTTTGGCCAGTTTCTTTCC ATTGCCCACTCAGGCACAACCTCAGGCCCTACTGCTCCCCAACCTTCCTG TGCCCCGGGGATGCCTCCGCACCTGCCTGCGAGTTTCCCTCTCAGGATCC CTAAGGACCTGGGCATTCCCTTCCCCAGACTCTCCCTAACCCCCCACCCC AGCAGCACACAGAGCCAGGGACAAAGGGTCATTGAATAGAAAACAAAGGT GAAGACAGCCCAGCCGGAGGCCTGGTGGGGTGTCATGGTTCAGTCCCCCA CCTCCGACATCAGAGGGGTTCACTCAGCCTCAGAGGGGGATGCCTGGCCC TCTCACCCTTCCACCCACCCTGCAAGAGAGCCTTTTTATCAGCAGGAACA TCAAGGCTTAACACTGAAAGTATCAAGGCAGAATGTTGAGGATGTGGACT CGGTAGTGGCTGGGGGCAGGGGCGGGTGCTCCCACAGCTCAGCCTCCTGG AGACGGGTCTTGGGGTGGTGAATTGAGAGATGGGATACCCCAGAACCCTC CTTTTCTGCTTACCATCAGAGTGAAGGCGGGCAGTGCTGTGTGCCCTGGG GGAAGCCACATTACCTCTCTGGGCCCCCTTCCTGCATCTGTTAGGTGAGT CTGACGTCTTCCATCCCCCTCACCTATGCAACAATAATTGGTCAGTATAT ACAATTTTATTTGTTTTGGCTTTTTTTTTTTTTCTTTTTGAGATGGAGTT TCACTCTTGTTGCCCAGGCTGGAGTGCAACAGTACAATCTTGGCTCGCTG CAACCTCTGCCTCCAGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAA TAGCTGGGATTACAGGCACCTGCCACCATGCCCAGCTAATTTTTTGTATT TTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTTGAACTCC TGACCTCAGGCGATTCACCCGCCTCGGCCTCCCAAAGTGCTGGAATTACA GGCGTGAGCCATTGCACAGGCTTTCTTTTGGCATTTTTTTTTTTTTTTTG AGATGGAGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 NA18974.hp2 NA18980.hp2 others(4): Show HG02015.hp2 NA18974.hp2 NA18980.hp2 NA19002.hp1 NA19003.hp1 NA19079.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0001t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0105 a0001c0001t0001g0174 a0001c0001t0001g0179 others(4): Show a0001c0001t0001g0105 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0235 a0001c0003t0001g0234 a0001c0004t0001g0192	7	374	0.0187	-2758	c.-40 others(11): Show c.-4091_-1334del	SULT2B1	ENSG00000088002.12	transcript	ENST00000201586.7	protein_coding			4010		chr19	TogoVar
YIPF4_chr2_32272904_32321594	32312841	TTTAGCCG others(2751): Show TTTAGCCGGGCGTGGTAGCAGGCGCCTGTAGTCCCAGCTGCTTGGGAGGC TGCGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTAAGCAG AGATCGCGCCACTGCACTCCCGCCTGGGTGACAGAGCGAGACTCTGTCTC AAAAAAAAAGACCGCCCCCCCCAATATACACACACCCTGACTTTAATGAG CTTATTTTGCTGGGGACTCAGCCAATTAATTTCACAAATTGTAAAACTAT TTCAAGAAATGAGAAAAAGAGGCCTGTGGTGGTAAGCAAGTATATAAAAG AAGCCTTCCTTGAAGCAACGATGCTTAAGCTGAAATCTTAGGGAAAAATA AAAGTTAACTAGGCAAAGAAGGTAGGGAAGACTCTTTCAGATAGAATCGC AGTTTGTGAGTTTGCTTGGGGAAAAAAATTTAAAAATATAAAAAGAAAAC CAGTTTGAAGTTTAGTGGTTAATGAAATTGAACAGGTATGTCAGCACCAT ACCTGACATTCTAGGCCATTCTTTCTTTGTCAGAGCTTTTTTGTTGAGAT GGAGTCTCGCTGTCTCGCTGAGGCTGGAGTGCAGTGGTGCAATCTCGGCT CACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGATTACAGGTGCCCATCACCACACCCGGCTAATTTTTT TGTTTTTAGTAAAGACGGTTTCTCCATGTAGGCCAAGCGGGTCTTGAACT CCCAACCTCCGGTGATCTGCCCACCTCAACCTCCCAAAGTGCTGGGATTA CAGGCGTGAGACACTGTGCCCAGCCTGTCAGAGCTTTTGAGTAGAAATAC GGTATCAGAAATGTGCTTTATTTTATTTTATTAGACAAAGTCTTGCTCTG TTGCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGC CTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT TACAGGCACCCACTGCCACACTCGGCTAATTTTTGTATTTTTAGTAGAGA CGGGATTTCACCATGTTGGTCTCGAACTGCTAACCTCAGGTGATCTGCCC GCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAACCACTGCGCCCA GCCAGAAACGTGCTTTTAATACTAAAGGCCAAGATATGCAATTATACTCT TGACATATATTCAACCGAAATGCATGTACATGTACCATAAGAGACATATG TACAAGAATGTGCACAGTTAACATTATTCAAATAGCCAAAAACGGGAACA TGTCCATCAACACAGAATAGACAAGTTGGTATAATTACACAATGGAATCT TATGCAGCAATGAAAATAAATGAACTAAAGCCGCATACAAAAACATGAAG AATTTCACAAGTATTATGTTGAGTGAAAAAGACAAAGAATTTGTACTGTA TTACTTCATTTATATGAAGTTCAAACACAGGCAAAATTAAGCTATAGTGT TTAGGGATGCATACTGAAATGCAGTCTTTTAAAACAGCTTTAGAATTCCT TGGCCAGGTGCGGTGGCTTACGCCTGTAATCCCAGCTCTTTGGGAGGCAG AGGCTGGCAGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACA TGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGT CGCGTGCCTGTAATCCCAGCTACTCTGGAGGCTGAGACAGGAGAATCGCT TGAACCTGGGAGGTGGAGAGTGTGGTGAGCTGAGATGTCACCATTGCACT CCAGCCTGGGCAAGAAGAGCAAAACTTCGTCTCAAAAAAAAATAAAAAAA TAAGGCTCCAAGCGCTGTTGTGAGGGTTAAATGAACTAGATAATTAATGT AATAAACAGAATAGTTTTGGCATTCAACAAACATTGGCTGTTATTATATT AGCTATTAAAAATTTAAGTCATTTAGGTCAATGAAACAGGAGGGTTTCCA GAATTATACCCAATTAATTATACATGGGAAGGTGATGAAGGTAGCATGTC AAATTGGTATAAAAAGATGGAATATTAAATAAGTGGGGATACTGTATCAG ATAGGAACATATTTGGTTGCAAGAAACAAAAATTCCTGTGATTACTAGCT TCACTGTGAGTTTATTTTTTCACGTAATAAATCCAAGGTTACATAATCCA TAACTGATATGGCAGTTTAACAGTGTTATTAAGAACTCAAGGTCCATTTA TTGCTCTATTCTGCCATCTTTGGTGAGTGGCTTTCATCCTCATTGTCTCA GAAAAGTTATTTCACCTCTAAGTATTACATCTACATTTCAAGCAGGAAGA AGATGAAGCTTAAGAGACCAAATGGAGCATGTCAGTCAAAGGTGTCCTTA TTTAAAATCTCTGGAAGCCCCACTTAGTGGCTTCCATCCATGTCTCATGG GACAGAACTGAATCACATAGCCATCCCTTGCTGTAAGAGAGTTGGGGAAA GTATTTTAAGCTGGGACATCCCAGCCCTGAGTGAAGTCAGGGATCTGTTA GGAAGAATGGATGCTAGGTAGGTAAATGGCAATGTCTGACAAAGACATGG TAGGCCAGTCTGAAAAATGTAAAGCTGGGCTGCGCGCGGTGGCTCACGCC TGAAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCCTGAGGTCAGG AGATCGAGACCATCCTGGTTAACGTGGTGAAACCCCGTCTCTACTAAACA TATAAAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0117 a0001c0001t0073g0117	1	396	0.0025	-2758	c.72 others(11): Show c.7226_*9983del	YIPF4	ENSG00000119820.11	transcript	ENST00000238831.9	protein_coding	6/6		7226	INFO_REALIGN_3_PRIME	chr2	TogoVar
UHRF2_chr9_6408199_6512054	6507996	CACCACAC others(2740): Show CACCACACACCCCCAAAAAACTACATTGTTTTCATCAGAGAAAAGTTTTA ATGTGATCCAGTCAGTCCTTGCATCCCTAAGTTCACAGCCATATAAATAT CATTCGTTGAATACTTACTTTGTACTAGTCATTTGTATGTATTATTTGTA TTCATTGAATTCTACCAACAACAAATGCTATCCCTGTCTTATGGGTGAAT ATCAGTGGCACAAAAAGGTTAAATAACTTGACCAGAGGTCATACAACAAT CAAAAGGTGGATCTGTGCCATAAACTTAGGCAGTCTTGTGTCCAGAGCTG GTGATGTTTGCTATATAGGCAGGCCCTCACTCTTGGATATATGGCCAGCT AGTTTCAGTGCTTTTCCTGAATGTAACTAAATTCCAAATCAGGTTGTGGG AAATACCTGGAACTATGTCTCTTAGAGCTAAACGTTGGAATCATTTTTAT TTTGAAGCATTGCATTTAAATAGGATCTTCTTAAATTGAAAATGAATCAT TAAATTGCATCATTCATACTATATCCCCTCGTATTGGCCGCATTTCTGCA TGAAGAGTGGGAAATGTCTTCCAGTTTCAGCTACTTGAACTGGTTTATTT CTACCACTTTGATTAGCAAAATAGCTGATTCCGACGGTTCCGCTTTGTAT TGTCTGAACTCTAGCTATAACATGAGAGACTAGGAAAGAAGGCTGATGGT GGCTTAGCATATTCACAGATGGGAAGAACGGCCCAAAGCTTAGCAATTAT TATTGAACCTTTGAGTCATCAAGGTTCTTTTACATAATATTTCAGTTGGT ATCTAGAAAATGGGGACTTTTAGGACACATAACCACAATACTAAACAGTT TCTTTACATCATCAAATATCTAGTAAATGTTCCAATTTCCATAGTCTCAA ATGTCATAAATTGCTGTTTTGTTTTCAGTTGGTTTGTCTGAATCAGGATC CAAATAAAGACCTCACATTGTGATTAATTGCTATCTCTTAAGAATATTTT AATCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTA ACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGT AGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAA TGGCGGGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACT GCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAACAACAAAAAAA AAAGAATATTTTAATCTGTATACATCCCCTCACATCCCCTCAATCTTTCT TCCCCCTCTTCCCCTTTGCAATTAGTGTGTTGAAATTGGATTGTTTGTTC TGAAGCATTTCTGACAGAACATAGATAATGGAACCCTGTGGTGTAGTTTA ACATGTTTCTCTTTATTTTCAGTTAATTGGTAGTTTACAATTAAAGCATG ACCAGATTCAGACTTGACTTTTGGGGGCAGGGGATGGGTAAGACTTTGTC ATAGGTGATGTGGTTGTCCTTCAGGAGGTACATAATACCTGGTTGTCTCT TAGTCCTAAGTTTGAAAGAAGCTTTTTTCACGGGAATTTATTACATTTGG TAGGTTACAGTGATTACTATGAAGTAATCAATCACTTTAATTTGGATAGG ATTTAAACTTTCTGGTTTTACTCACTTCTAAGTAATATGGTTCACTCGAC AAATATGTGCATGCTAGTGTTTGAGTATATTGGTAAACTTTTGGAAGCTG GCAAAGTTTCAGAAGCTGGCAATCTAAACATCCATAACTCTCTCATAACC CTGTTATAACAGCTAACAGAAAGGGGCCCTACCTATATACTTAAAGCTTT GGATTTCAGTATAGATCCTGTTTGGAAGAGCTGAGTAGAGATCTGCTCTG ATGCCCAATATCTGCTATTTGCCTATTAAGAACCAAACCTTTCCCTATTC TTCAGGACAGCCCTGATTGCAAGAATTGAGCTTGGTGGCCCGTTCACCTT GAGCTTACACTGGAAAGAGTTACCCTTGCTTGCCCACTCTGTCTGGTCCC TACAAGTAGACTGTCACAGTTCCTGAAGGAAGTGATATTTAGTAACCTGG CTTAATCTAATCCTACACAGAAAAAAGATGATATACCTTCACTGGATATA AGAAAATCGGAAGCTTCTTAGAGGGACCATGCAGGCAGACCAAGTGACTG CTGTTGAAAAAGATGAAGATGATCTTTCTTACTCTTTCATGACTAGATTC GCGGGTATGAAATTGCATTGTGTTGACAGAATAAAGCAGGCTGCCATGTG AAGAGTAATTTGAGATTAAAATTCTTGGAAGTAAACATGATTGTGAAGAC AAGATGCAACAGATGAAACAATTAGATACTGCCAAAATTTGAATGTATTG CTGAGTAATATTTATGGATATGCCACGGTTTATTCATCTGATGGATATTT GGATTGTTTACAGGGTTTTGCTGTTACAAAGCTGCTGTGAGCCATTGTCA GTCTTTGGAAAACTCTTACAAAATTATGTACTTACCATACAACCCATCAG TGTCACTAATTGTTAACAAAAATGACATTTCAAAGTGGTTTATACCATTT TACCTTCCTGCCAGCAGTGCGTGAGATTTATGGTTGCCCCACATCCTCTC TAATACTTGGTTTTGTCAGTTTTTTAAAATTATAAACCACTCTAGAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	316	0.0032	-2747	c.18 others(11): Show c.1818_*4564del	UHRF2	ENSG00000147854.17	transcript	ENST00000276893.10	protein_coding			943		chr9	TogoVar
CROCC2_chr2_240901336_240998311	240977590	AGCTCTGG others(2738): Show AGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTC TGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCTCTGGGG TAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGA GCCTCAGGAGCCCAGACTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTC AGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAT CCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAG GCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCA TCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCT GCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCA GTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGGCTC TGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGGG TAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGA GCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTC AGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAT CCCAGGCTCACCCCTCCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAG GCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGACTCA TCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCT GCTCAGTCTCTGGGGTACGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCA GTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTC TGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGGCTCTGGGG TAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGA GCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTC AGGAGCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGAT CCCAGGCTCATCCCTGCTCCGTCTCTGTGGTAGGAGCCTCAGGATCCCAG GCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCA TCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCT GCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCA GTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGGCTC TGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGG TAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGA GCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTC TGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAG CCCAGACTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAG GCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCA TCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCT GCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCA GTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCTC TGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGG TAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGA GCCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTC AGGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGAG CCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAG GCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCA TCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCT GCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGACTCATCCCTGCTCA GTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTC TGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCCGTCTCTGGGG TAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGA GCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTC AGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAT CCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAG GCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGACTCA TCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCT GCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCA GTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0044 a0044	a0044c0071 a0044c0071	a0044c0071t0001 a0044c0071t0001	a0044c0071t0001g0016 a0044c0071t0001g0016	1	301	0.0033	-2745	c.440 others(19): Show c.4402-5245_4402-2501del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31			INFO_REALIGN_3_PRIME	chr2	TogoVar
CD300A_chr17_74461634_74489794	74486519	CAGTGAAA others(2737): Show CAGTGAAAAGTTGGTCCCTTTATTTCTGTCACCAGGCATCCAGAGATAAA CAAGGTTAATAGTTTCTTGTGTTTCTCCCCTGAGATAGTTAATCATTTGC ACATATATCCATGTATATACGGCCTATATGTATATGCTCCTCCCCATTCC CATATGTGGGGATATCCTCCCCATTCCCACCATTCCTGCACAGTAGTATT TTCATGTCACAACCATCTTGGAGATTATTTTACCTTCTTCTATAAATGCT GCAGAACATCCCATAACATTCCATTGTTTGTACCATGACATACACATGCC ATTTTGCACATTTTCATAGACAGCTGAAGGGTAAAGTTGGAGAAATTCAA AGTCCGTGCACTTGTAATTTTGATAGATATTGCCAAGCATATGGCAACTT TAAATAGCAATCTTTGGCCAGGCATGGTTGCTCACGCTGAATCCCAGCAC TTTGGGAAGCTGAGGTGGGTGGGTCATTCGAGGTCAAGAGTTTGACACCA GCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAG CTGGGCGCAGTGGCATGCACCTGTAATCTCAGCTACTTGGGAGGCTGAAG CAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTGGCAGTGAGCCGAGATC ATGCCATTGCATTCCAGCCTGGGCAACAGAGCAAGACCCCATCTCAAAAA TAAATAAATAAAAAGGAAAAAAAAAGAAATAGCAATCTTTTTATTTATGT ATTTATTTTTTGAGACAGATCTTGCTCTGTCACTCAGGCAGAGTGCACTG AGAGTGCAGTGGCTTGGTTACAGCTCACTGCAGCCTCCACCTCCTAGGCT GAAGCAATTCTCCCACCTCAGCCTCTGGAGTAGCTAGGACTACAGGCTCA GGCCACCATGCCCGGCTAACTTTGTTTATTTTTTTCTGTAGAGATGAGGT CTCACTAGGTTGCCCAGTTGGTCTTGAACTCCTGCACTCAAGTGATCCTC CTGCCTCAGCCTCCCAAAGTGTGGGGATTACAGGTGTGAGCCACCATGCC CAGCTTGAAATAGCAATCTTTAATTTCCACCTTACTAGTTATCCCTCTAC ACCCAAAACTGACGTATTAATTTTTACCAAGTGTATTAGTTTGTTTTCAT GCTGCTGATAAAGACATACCCAAGACTGGGCAATTTACAAAAGAAAGATG TTTAACTGGACTCACAGTTCCACCTGGCTGGGGAGGCCTCAAAATCATGG CAGAAGGCAAGGAGGAGCAAGTCACATCTTACATCAATGGTGGCAGGCAA AGAGAGAGCTTCTGCAGAGAAACTTCCATTTTTAAAACCATCAGATCTCA TAAGACCCATTCACTATCAGAAGAACAGCATGGGAAAGACCTGCCCCTGT GATTCAGTCATCTCCCAAAACAAGTTGGAATTATGGGAGCTACAAGATGA GATTTGGGTGTGGACACAGAGCCAAACCATATCATTTCACTCCTGACCTC TCCCAAATCTCCTATCTTCACGTTTCAAAACCAATCATGCCTTCCCAACA GTCGCCCAAAGTCTTAACTCATTTCAGTATTAACTCAAAAGTCCACAGTC CAACATCTCATCTGAGACTAGGCAAGTCCCTTTCACCTATGAGCTTGTAA AATCAAAAGAAGTTTAGTTACTTCCTAGATACAATGGGGGTATAGGCATT AGGTGAACACAGCCATTCGGTGAACACAGCCATTCCAAATGGGATACATT GGCCAAAACAAAGGGCCTACAGGTCTGATGGAAGTCTAAAATCCAGTAGG ACAGTCAAATCTTAAATTTCCAAAATGATCTCCTTTGACTCCATGTCTCA TATCAGGTCACGCTGATGCAAGAGATGGGTTCCCATGGTCTTGGACAGCT CTGCCCCTGTAGCTTTGCAGCGTACAGCCTCCCTCCCAGCTGCTTTCATG GGCTGGCGTTGAGTGTCTGCAGCTTTTCCAGGTGCACAGTGCTGGCTGTC AGTGGATTTACCATTCTGGGGTCTGGAGGATGGTGGCCCTCTACTCACAG CTCTACTAGGCAGTGCCCCAGTAGGGACCCTGTGTGGGGTCTCTAACCCC ACATTTCCCTTCCACACTGCCCTAGCGGAGGTTCTCCATGAGGGCCCTAC CCCTGCAGCAACCTTCTGCCTGGACATCCAGGCATTTCCATACATCCTCT GAAATCCAGGTGGAGGTTCCCAAACCCCAATTCTTGACTTCTGTGCACTT GCAGGCTCAACACCACATGGAAGCTGCCAAGGCTTGGAGCTTGCACCCTC TGAAGCCACAGCCCAAGCTCTATGTTGGCCCCTTTTAGCCATGGCTGGAG CGGCTGGGATGCAGGGCACCAAGTCCCTAGGCTGCACAGAGCAGGGGAAC CCTGGGCCTGGCCCACAAAACCACTTTTTCCTCCTAGGCCTCCAAGCCTG TGATGGGAGGGGCTGCCATGAAGACGTCTGACATGCCCTGGAGACATTTT CCCCATTGTCTTGGGGATTCACATTTGGCTCCTCGTTACTTAGGCAAATT TCTGCAGCCAGCTTGAATTTCTCCTCAGAAAATGGGATTTTCTTTTCTAT CACATTGTCAGGCCATAAATTTTCTAAACTTTTACACTCTGCTTCCCTTA TAAAACTGAATGCCTTTAACAGTGCCCAAATCATCTCTTGAATGCTTTGC TGCTTAGAAGTTTCTTCCGCCGGATACCCTAAATCATCTCTCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0094 a0001c0002t0002g0094	1	422	0.0024	-2744	c.23 others(11): Show c.2394_*5137del	CD300A	ENSG00000167851.15	transcript	ENST00000360141.8	protein_coding			1726		chr17	TogoVar
ZNF254_chr19_24082187_24134968	24132226	GGGTTTTT others(2735): Show GGGTTTTTCCATTGTTATCTTCCAGAATTTTTAGAGTTTCAGGTCTTAGG TTTAAGTCCTTAATCCATCTTGAGTTGATTTTTTTTATAAGGTGAGAGAT AAGGATCTGGTTTTATTCTCCTACATGTGGCTACCATCCCAGCACCAATT GTTGAAAAGGGTGTCTTTTCCCCACTTTATGTTTTTGTTTACTTTTTTGA AGATCACTTGGCTGTAATTATTTCAGTTTATTTCTGGGTTCTCTGCCATT GGTCTATGTGTCTATTTTTATACCAGTACCACGCTGTTTTGGTGACTATG GTTTTATAGTATAGTTTGAAATCAGGTAGTGTGGTGCCTCCAGACTTGTT CTTTTTGCTTAGTCTTTCTTTGGCTCTGTGGGCTCTTTTTTGGTTCCATA TGGTTTTTAGAATTTTTTTTTTCTAACTCTGTGAAGAATGATGGTAGTAT TTTGATGGGAATTGTGCTGAATTTGTAGATTGCTTTTGGCAGTAGGGTCA TTTTCAAAATATTGATTCTACCCATCCTTGAGCATGGGATGTGTTTCCAT TTGTTTGTGTCATCTATGATTTCTTTCAGTAGTGTTTGGTAGTTTTCCTT TTAGAGGTCTTTTGACTCCTTCATTAGGTGTATTCCTAACTTTTTTTTGT TTTTTTCCAGCTATTGTAAAAGGGGAGTTCTTGATTTAATTCTCCATTTG GTTGCTGTTGGTGAATAAAAGAGCTACTGATTTGTGTACATTAATCTTGT ATCCAGAAACTGCTGAATTCTTTGATTGGTTGTAGGAGCCTTCTGGAGGA GTCCGTAGGGTTTTCAAGGTAAATTATCATATCATCAGCAAACAGGGACA GTTTGACTTCTTGTTTACTGACTTGGATGCCCTTTATTTCTTTCTCTGTT CTGATAGCTCTGGAGGACGTCCAGGAATATTTTGGAGAGGAGTGGTGAGA GTGGGCATCCTAGTCTTTTTCCCATTCTCAGAGAGAATGCTTTCAACTTT TCCTCATTCAGTATTATGTTGGCTATGGGTTTGTTGTAGACAGCTTTTAT TAAATTAAGCTGTTCCTTGTATGCCAACTTTGCTGAGAGTTGTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAACAGAGTTTTGCTCTTGTT GCCCAGGCTGGAGTGCAATGGCAGGATCTTGGCTCACCACAACCTCCGCC TCCCGGGTTCAAACGATTCTCCTGTGTTAGCCTCCCAAGTAGCTGAGATT ACAGGCACATGTCACCATGCCTGGCTAATTTTTGTACTTTTAGTAGAGAT GAGGTTTCATCATATTGGTCAGACTGGTCTTGAACTCCTGACCTCAGGTG ATCTGCCTGACTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCAC CATGTGCCCGGCCAAGCTGAGAGTTTTACTTTCAAAGGGATGCTGGATTT TGTCAAATGCTTTTTCTGCGTCTATTGAGATGATCATGTGATTTTTGTTT TCAATTCTATTTATGTGGTGTATCACATTTGTTGACTTGTGTGTCAAACC ATCCCTGCATCCCTGGTATGAAACCCACTTTATCATAGTGGATTATCTTT TTGACATGTTGTTGGATTCAGTTAGCTAGTATTTTTTTTAAGGATTTTAG CATCAATGTTTGTCAAGGATATTTGCCTGCAGTTTTCTTTCTTAGTTGTG TCTTTTCCTGATTTTGATACTAGGGTGATGCTGGCTTCATAGAATGAATT AGGGAGGGCTCCTTCTTTCTCTATCTGGTGGAATAGTGTCAAAAAGATTG GTACCAGTTCTTTGAATGTCTGGTAGAATTCTGTGAATCCGTCTGGTCCT GGACATTTTATTGGTAATTTTTTGAATTACCATTTTAATCTCACTGCTTG TTATTGGTCTGTTCAGGGTATCTAATTCTTCCTGATTTAAGCTAGGAGGG TTGTATTTTTACAGGAATTTATTCTTCTCTTCTAGGTTTTCTAGTTTATG TGTGTAAAGGTGTTCATAGTAGCCTTGAATGATTTTTTTGTATTTCAGTG GTGTCAGTTATAATATTTCCTGTTTCATTTCTCAGTGAGGTTATTTGGAT TTTCTCTCTTTTCTTGGTTAATCTTGCTAATGGTCTATAAATTTTATTTA TATTTTCAAAGAAGCAGCTTTTTGTTTCATTTACCTTTTGTATTTTTTTT GTTTCAGTTAGTTCTGCTCTGATCTTGGTTATTTTCTTTTTTTGCTGGGT TTGGGTTTGGTTTGTTCTTGTTTCTCTAGTTTCTTGTGGTGTGTCCTTAG ATTTTCTGTTTGTACTCTTTCAGACTTTTTGATGTAGGCATTTAGGGCTA TGAACTTTCCTGTTAGCACCACCTTAGCTGTATGCCAGAGGTTTTGATAG GTTGTGTCATTATTGTCATTCTGTTTGAAGAATTTTTTAATTTTCATATT GATTTGGTTTTTGCCCCAATGGTTATTCAGGAGCAGCTTATTTAATTTCC ATATATTTGCGTGGCTTTGAAGTTTTCTTTGGGAGTTGATGTCCAGTTTT ATTCCACTGTGGTCTGAGAGAGTGCTTGATATAGTTTCAGTTTTCTTAAA TGTTTTGAGGCTCGTATTATGACCTATCATATGATCTGTCTTGGAGAAAG TTCCATGTGCTGTTGAGGAGAATGTGTGTTCTGCAGTTGTTGAATGAAAT GTTTTGTATATATCTGTTAAGTCCATTTTTTTCCAAGGTATGG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	370	0.0027	-2742	c.42 others(11): Show c.4247_*6988del	ZNF254	ENSG00000213096.11	transcript	ENST00000357002.5	protein_coding			2259		chr19	TogoVar
BRSK2_chr11_1384934_1467689	1429577	TCAGCAGT others(2733): Show TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTG AGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGC GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTC TTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTC TGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC GGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGG GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCC AGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGC AGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGT GAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAG CGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGT CTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTC TTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTC TGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC GGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCG GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTG CCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCA CTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTG TGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGC TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTG AGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGC GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTC TTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTC TGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC GGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGT CTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTG GTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGG TCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTT TTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTG CCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCA CTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTG TGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGC TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAG TGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC	T T	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	344	0.0029	-2740	c.92- others(15): Show c.92-6416_92-3677del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1429624	TCAGCAGT others(2733): Show TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTG AGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGC GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTC TTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTC TGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC GGGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCG GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCC AGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGC AGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGT GAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAG CGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGC GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTC TTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTC TGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCT GCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCG GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTT TTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTG CCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCA CTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTG TGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGC TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTG AGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGC GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTC TTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTC TGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC GGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGT CTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAG GTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTT TTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTG CCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCA CTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTG TGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGC TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCA GCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAG TGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01257.hp1 HG01258.hp1 others(14): Show HG00280.hp2 HG01257.hp1 HG01258.hp1 HG02080.hp1 HG02486.hp1 HG02630.hp1 HG02698.hp2 HG02922.hp2 HG02976.hp2 HG03239.hp1 HG03471.hp1 HG03669.hp2 HG03831.hp1 NA18939.hp1 NA19030.hp2 NA19091.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0028 a0001c0001t0062 a0001c0001t0075 a0002c0002t0002 a0002c0002t0005 a0002c0002t0016 a0002c0002t0030 a0002c0002t0072	a0001c0001t0001g0112 a0001c0001t0001g0336 a0001c0001t0003g0004 others(13): Show a0001c0001t0001g0112 a0001c0001t0001g0336 a0001c0001t0003g0004 a0001c0001t0003g0192 a0001c0001t0003g0284 a0001c0001t0004g0172 a0001c0001t0004g0187 a0001c0001t0028g0329 a0001c0001t0028g0330 a0001c0001t0062g0255 a0001c0001t0075g0212 a0002c0002t0002g0088 a0002c0002t0005g0207 a0002c0002t0016g0200 a0002c0002t0030g0170 a0002c0002t0072g0272	17	318	0.0535	-2740	c.92- others(15): Show c.92-6228_92-3489del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			INFO_REALIGN_3_PRIME	chr11	TogoVar
VIRMA_chr8_94482689_94558469	94545980	CCAGGAGG others(2733): Show CCAGGAGGTCAAGGCTGCAGTGAGTCGTGATGGCACCACTGCACCCCATC CTAAGCAACAAAGCGAGACTCTGTCAAAAAAAAAAAAGGGAAAGAAAGAA ATTGCAAACATAGTTCATCATAGCTAGAGGGCAAAATAGCAAAACAGGGG AGGAAAGCAGAGAAGAGTAGCTAAGAACAACCAACAGAATTACAAAAACA AGATTTTCATCCACAGCCAGAGGACAATTCCCAATCTGTATCTCCATCTA GGACCTCTCTCCTGAGCCCCAGGCTACTATATCCAACTGCCCACTCAGCC TCTCCATTTCAATGTCCCTTGTGCACCAAACTCAACAAATCCAAACTGAA TTCTCCTACATTAGTGATGGCATCACCATCCACATATTGCCCAAGACATT ATTATCCTGGACTTCTCATCCTCTCTCTTCTATATCATCTATCTATTCAA ACACTAAGTCCTATTGATTAAAGCTCTCCTCCATTCCGGCTGTCACTCCT TTAGTTCCATATACTACATCACTCCAATATGAATTACAGCAATAGGATCC TAATTGATTTTGTGCTTCTTTTTTAATTTTTGTTTTTTAAATTTTTATTT CAATAGTTTTTGGGATACAAGTGGTTGTTTACATGGATAAGTTCTTTAAC GGTGATTTCTGAGATTTTAGTGTACCTGTCTCCCAAGCAGTGTGCACTGT ACCCAATATGTAGTCTTTTATCCCTCACCCCCGTCCCAACCTTCCCCCTC CGAGTCCCTAAAGTCCATTGTATCATTCTTACGCCTTTGCATCCTGTGCT TCTTTCTTGCCTCCCATCAACACATTCTCCTACTGAAGTATGGTCTTTCT AAACTATAAATGTACCACTCCCCTGATCTTACTGTTGCCAAGCCAAATTC CTAGGTCTTATAAACAAGACTGGCTTCTTTATTGCTCCAAACTTATATCC CTAGCTTACCATGCTTTTCTCATTTTTATGCCCTCACTCATGATGTTCTC TCTGCTTGAAATCTATCACATCCTTCTGCCCCAACTCCTTTTACAAGTAA ACTTTCTCTTGAAAGCTGAGCCAGATCAAATCTAGATAGGTGCCTCTCCT CCTAGTGCCTAAAGTCCTTTATCTAGCTGAATTGTAATTGCCTCTTATCT CTCCCATTAGACTATGTGTTTAAAGAAGACAGACCTATGTCTTAGTTTAC TGTATATTCATAGTGCCTAGCATATTCATTTAATAAATGAATTTTTAATA GGCACTTGATTAATGGTTATTGAATTGTGTTTTCAGAGAATTAAAAACAA AGCCTAGGAAAACAGGTTAACAATGGGAAATCATGGAAGGTTCATGATCA GGAAAGTAACAGGAATATGAAGAAGACTGGTCAGATTCCACAACTCTGAG CCACAATTATCTTTGGAAGGAGTCATTTACCTGCATGTTTAAAGGTCACA GCATAACTGTTTCCCTTCCTTATTCTTCTATCCCTGCAATTATCTTCTCT TTCTACCCTCTCCTTTAGCTATCACATCTACTGCTACCACTTCCTTTTTC ACTTCTGCAGATGAGTTCCTAATTGGTTTCCTGAAGTAATTTTTAAATGA CCTCTAAAATACAGGATTTTCCAGTATCGACCTAGTCTCCTAGGACTGTA TTTTAACCCAGCACTTCCACACTGGAAAGTACTATTAAAAAAATAACTAA AAATGTGTAAAACAATTTAGCTTCAAGAATATTACACACCACTGTAAAGT CAGAAACCTAAATGTATGAGAATTTAGTATATAAATAATAGCATTAATAT CGTAGCACTTTGGGAGGCCAAGACAGACAGATCACCTGAGGCCAAGAGTA CGAGACCAGCCTGGCAACACGGCAAGACTCCATCTCTACCAAAAAAAAAA AAAAAACTTTAAAAACTAGACGGGCATGGTGGTGTGCACCTATAGTCCTA GCTACTCAGGAGGCTGAGGCAGGAGGATCGCCCAGGTCAAAGTTGTAGTA AGCCATAAGCACACCACTGCACTCCAACCTGGGCAACAGAGCAAGACCCT GTTTCAAAAAATATATATAGCATTACCACTTAAAGAATATTACACAGCCA ATAAAAAAGGATATTATATAGAATATCTAAGGAGAGAAACAAGATGGTTA GGGGACAGTGATGAGACTTACTTTTTACCACATACTCTTTTGTACCTTTT GTATTTGTACCTCATACATGTATTACCTAGTCAAAAAAAAAAAGAAAATT TAAAAAAATAAGCTTACTTTTGAAATATTATATAGGTGTATTACTTCTTG ATTCACAAAGATGTACAACACATTGTTAGGTGAAAAACGAAACCACAAAA CAGTATTACAGTATTGTAATATTAACGTGGGCAACGGGTGTATACATTTA AGCATAATATTCACTAGAGGATTTGGAAAAATATTAATATAAAGACAGCT GTTAATTACAGTGTAAAATACAAAGTAAAAGCTGATTACAATAGGGAGAG ATACAGAAAGGAAATTAATTCACTCATCAACAGGAATATACAAATACAAT AGCTTTCCACTCATATACTTGTTTACCAAATAACCTTGCTTAAATCTGAT TTTAACTTAAACAACTTTTTCTAATATTGTATATGTTAACATTAGAGATA TAGTGTGCTTTTTTATATTTTTTTATTATTTATTTATTTATTTTGAGACA GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp2 HG02145.hp2 others(8): Show HG01109.hp2 HG01167.hp2 HG02145.hp2 HG02486.hp1 HG02572.hp2 HG02723.hp1 HG02818.hp2 HG03130.hp1 HG03579.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0009 a0001c0005t0003 a0001c0005t0009	a0001c0005t0003g0240 a0001c0005t0003g0241 a0001c0005t0003g0242 others(8): Show a0001c0005t0003g0240 a0001c0005t0003g0241 a0001c0005t0003g0242 a0001c0005t0003g0244 a0001c0005t0003g0245 a0001c0005t0003g0246 a0001c0005t0003g0247 a0001c0005t0003g0248 a0001c0005t0003g0249 a0001c0005t0003g0296 a0001c0005t0009g0243	11	344	0.0320	-2740	c.63+ others(15): Show c.63+4665_64-2039del	VIRMA	ENSG00000164944.12	transcript	ENST00000297591.10	protein_coding	1/23				chr8	TogoVar
TFDP2_chr3_141939428_142154544	142130906	AGCCAAAT others(2732): Show AGCCAAATGTGGTGGTGGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGA GGCAGGAGAATCGCTTGAACGCAGGAGGCGGAGGTTGCAGTGAGCCAAGA TCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTACGTCTCAA AAAAAAAAAAAAAAGGGAAAACAAAATACAATTGCTATTTACAAGAAACA TGCCTAAAGTATACCCATAGAAAGTAACAAATTGAAAAAAGATGACGTGT CTCTATAAACATAGACAAATTGTATTTAGAGTAAGAATATTATTGAGGAT AAAGAAGATAGTGATTAAAGAAAGGTAGTATTTAGCAGGAAGACACAAAT AGACAAAAATAATCCAAATTTGAATACATTTCATAACATAATTTATAAAC ATATAAAGCAAAAACTGACTATTTTACAAGGAGAAACTAAGAAATCCACA ATCATACAAGACAATTTTAATACACACCTCTCAGTAATAAAGAGACAAAA ACTGAAATCAGGGCACATAAAATGTGAGTAACTCTGTAAGTTTGATCTAA GAGACATAGGCAGAAATCTGCTCCCAAAATGCGAGAGTACACCCTGTCTA CCAAAGAATTATCTCCCAAACAATGTCAACAAGGACCCATATGTTAAATT GTAAGTAAATTTATGATTAGCAACAAATTAATACAGATCAATACAAAAAT TAATAAACACTTGGAGTATATAATGGTAAAGAAAATCCAACACCAACAAA GAATACTTAGTAATAAATGTAGTAAGAAATGCGTAACGCCTATCAGAAAG AATTAAAAACACATGTCTGGCCGGGCACGATGTCTCATGCCTGTAATCCC AGCATTTTGAGAGGCCGAGGCGGGCAGACCACCTGAGGTCAGGAGTTCGA GACCAGCCTGGCCAACATGGCAAAATCCCATCTCTACTAAAAATACAAAG GTTAGCTGGACGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGC TGAGGTGGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCA AAATCGCTTCATTGCACTCGTCTGGGCAATGGAGCAAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAGTCTAAACAAAACCTTGTATAAAAATGTTCATA GCAATATTACCAAAATAGTAAAAAAGTATACATAATCCAAATGTCCACCA ACTGATAAACAAATATGGCATATATGAAACATTATTTTGCAATATAAAGG GATGATTATTGATATACTCTGCAGCATGCATAAACCTTGAAAATGTTATG CCAAGCCACATACTATATGATTCCACTTAAATGAAATATTCAGAATAGGC AAATCCATAGACTCAGAACATAGATTAGTAGTTTCCAAGGCTGGGAAGAG AAGGGGATGGGAAGTAACTGCTAATGAGTATGGGGTTTTTTTAAGAGTGA TGAAAATGTTCTGGAACTAGGTAGTGATGATGGCTGCACATATTTGTAAA TATACTAAACAACCACATCTTTATACATCTTTTAAAAAACAATGTTATAG GGCTGGGTGTGGTGGCTCACACCTGTAATTCCAGCACTTTGAGACTCTGA GAGGCTGAGGTGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGC TAACACAATGAAACCCCGTCTCTAGAAAAAATACAAAAAATTAGCCGGGC ATGGTGGTAAGCGCCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAG AATCGCTTGCACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCA CTGCACTTCAGCCTGGGCAACAGATTAAGACGCTATCTCAAAAAAAAAAA AAAAAGGATATTATGACATGTGAATTGTATCTCAATAAAGCTTTAAAAAA AAAAACCGTATGAGGAAAATGTTAAAATACTCCCAAAAGAAACTAAAAGA AGATGAACAATAGAAAAATATATGATATTCTTGGATAAGACAATTCAACA TTATAAAGATATAAATTCTCCCAAGTTAATTTATAAATTCAATATAATGA TAATAAAAATACTAACAAACCATTTTATGGAGCTGAACAAGCTGATATTG ACATGAAAAAACAAACATGTAAGAATAACAGGAAAGTACTAAAACAGAAA AACTACAAAACGAGACTAGACTTACCAGACATTAAAACCTACTATAAAGC TTCTGTAACTAAAACACTGTGGCACAGGTGCATGAATAGACAAATTCATC AAGCTGTGTAATTATAATACTATATGTATAACTTTTTGAATTATCAAATT TCAAATACAAGTATTTTTTGAGGATGTTTTGGAGAGAGTCTTACCCTGTC ACCCAGACTGGAGTCCAGTGGCACAATCACAGCTCACTGCAGACTTGATC TCCTAGCCTCAAGCAATCCTCCTGCCTCAGCCTCCTGGGTAGCTGGGACT ACAGGTGTGCGCCATCACACCCCGCTAATATTTTTTGTATTTTTAGTAGA TATGGGGTTTCACTAGTCTCATACTCCTGGGCTCAAACCTCCTGCCTCCC TCAGCCCTGCAAAGTGCTGGGATTATAGGCATGAGCCACTGCACCAGGCC CAAAAGCAGTTTGTTTGTTTGGTTTTTTGTTGCCCAGGCTGGAGTACAGT GGCACAATCTTGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTC TTGTGCCTCAGCCTCCTAGGTATCTGGGCTACAGGCACGT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02630.hp2 HG02647.hp2 others(15): Show HG00735.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp2 HG03195.hp2 HG03486.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp2 NA19009.hp2 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 others(8): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0023 a0001c0001t0036 a0001c0001t0060 a0001c0001t0062 a0001c0001t0096 a0001c0001t0141	a0001c0001t0004g0231 a0001c0001t0005g0029 a0001c0001t0012g0001 others(15): Show a0001c0001t0004g0231 a0001c0001t0005g0029 a0001c0001t0012g0001 a0001c0001t0012g0002 a0001c0001t0012g0003 a0001c0001t0015g0247 a0001c0001t0015g0249 a0001c0001t0015g0251 a0001c0001t0017g0242 a0001c0001t0017g0243 a0001c0001t0017g0244 a0001c0001t0023g0245 a0001c0001t0023g0246 a0001c0001t0036g0008 a0001c0001t0060g0248 a0001c0001t0062g0250 a0001c0001t0096g0232 a0001c0001t0141g0076	18	250	0.0720	-2739	c.-93 others(19): Show c.-93+15538_-93+18276del	TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	1/12				chr3	TogoVar
FBN3_chr19_8060402_8154592	8126426	CTTTTCCC others(2729): Show CTTTTCCCATGGGTGCCTGGGAGGCCTCAAGGAGGATACTACCGATCTCG CAGCGTTCGCAGGGGCTCCCCCAGGCTGCCCCGAGGGTGGCGCAGCACTC AGACCGCAGGCTGGCTCCCTGAAGGTTCACCTCACAGCGGCTCTCCTGGA TCTTCAGCCAGCAGGTGCCCTTGGTGCTGTCTGGGGAGAAGAGGCGGGTC ACCTGTCTCACCTGCCGGCCCTACACCTGCACCCTGACCCATAGACGCCC AGCCTCTGGAACGCCGTCGGGCTCCGGGGCCGCTCACCTAGACAGAAGGT ACCAGAGGGGTCCAGCCGGCTGCCAGGGCCACATTTGCAGGTGTAGGAGC CGGCCAGGTTCCGACAGACGCCACTCACACACGGGCTGGACAGGCATTCG TCGACATCTGTGGGGACAGCCCCCCACCAGGTCCTGAGCTGCAGGAGGAG TTGCCTTACCTGGCCAGGACCCCTCCTCCCCAAGGGGCCGCCGCAACCGG TGGCACGGGGTGCACCCAGATGCACAAGCATGCAGAGGGCACTGGAATCA AATGTGCATGCAAGCACATGTGTGTGCTGAGCTGTGTGTGTACATGCTGT AAGAGACAGGAAATGCCAAACTGTTTTTTTTTTGTTTTTTTTTTTTTTTT GAGACAGAGTCTCGCTCTGTCACCCAGGTTGGAGTGCAGTGGCACCATCC CGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCGATTCTCGTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCATGCCTGGCTAAC TTTTTTTGTATTTTTAGTAGAGACAGGATTTCATGATGTTGGCCAGGCTG GTCTCAAACTCCCAACCTCAGGTGGTCCGCCCGCCTCAGCCTCCCAAAGT GCTGGGATTATAGGCGTGAGTCACTGCACCCAGCCAAAACTGTATTCTTA CTCTCACCTTCAACACAACACAGAATACATCAGTGATCAGACATGGGGTT TTTTGTTTGTTTGCTTTTGCCAAGCTGCCCAATTCTCCGACACCAGCAGG GTGCCCTATAATTCAATTCTGACGCTTTCTGCCTGGAGTTAAAGTCTGAC TCCACAGGTTGAGGGCTCAGTCCCACAAGACTGTCTTCCACACCAGATGC CAGTTGCAAATCGGGGCCTCCAGAATTTCTGCCTTCTCCTCGGGCTTGAT CATCCGCTAGAGGGGCTCACAGGACTCAGGGAAATACTTAACTTACGTTT ACTAGTTTATTATAAAGGATATCACAGGCTGGGCGCTGTGGCTTACGCCT GTCATCCCACCTCTTTGGGAGGCAGAGGCGGGTGGATCACTGAGGTCAGG AGTTCGAGACCAGCCTGGCCAACACGATGAAACACCATCTCTATTAAAAA TACAAATTAGCTGGGCGTGATGGCACACGCCTGTAGTCCGGGCTACTTGG GAGGCAGAGACAGGATAATCTCTTAAACGGCGGGAGAATTGCTTGAACCC AGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCCCCATTGCACTCCAGCCT GGGTGACAGAGCGAGACTCTGTCTCAAAAAGATAAAATAAAAAAAATAAA GGATATTACAAATGATGAACAGCCAGATGGAAGAGATGCACGGTGCAGGG TATCTGGGAGGAGATGTGGAACTTCCGTGCCTGCTCTCGGCATGCCGCCC TGCCAGCACACAGATATGTCCATCCACCTAGAAGCTCTCCAAACTCTGTA GTTCGAGTAGGACTTCTGGGATGTGTGTATAACTGTGTGCCCCTGAGTGT GTACAACCATGTGTGACTGGGACTGCAAGTGTGGGAAGTGTGAGAATGAG TGTATGGGCCAGGTGTAGTGGCTCGCGCCTATAATCCCAGCACTTTGGGA GGCTGAAGCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGC GAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCTGGGCT TGGTGACGGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGA ATCGCTTGAACTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACT GCACTCCAGCCTGGGTGATAGAGCAAGACTCTGTCTCAAAAAAAAAAAAA AAGAATACGTGTGTATGTAAATGTGAGTATATATGTGTCTTTGAGTGTGT ATGTGTGAATGTAGGTACATATGCAAGTGTCTTTGAGTATGCATGTCTGT GTACACATGCACACAGCATGTCTGAATGTGTGTCTGTGTATACACGGCAT GTGCAGCGTGTCTGGGTGTATGTATGCATGACACATGCAACGTGCATGTC TGAGTGTGGTTGTGTACAGGATGTTTCTGAGCGTGTGCATGTGTGTCTTG TGTACACACCTCATGCAACATGTGAGTATCTGAGCGTGTGCATATATGTG TGTGTGCACACTACATATAGCATGCGTGTGTGAATAGAGGTAACATGTAA GCATCTTTGAGCGTGTGCATGCCTGTGCGTGCACACGCCACATGCCAAGT ATGTTGGAGCATATGTGTGTGTGCAAACCCACGTGAGCCCGGGACCCAGT ACCTTTGCAGATCTCCGTGTCCTGCCAGAAGTGGAAGCCGGGGGGGCAGG AGCAGCTGTAGCTGCCAGGGCTATTCTGGCACCACCCGTTGTCACACAGG AGGCTGTTGAGGGCACACTCATCCACGTCTGTGGGGT	C C	exon_loss_variant exon_loss_variant	HIGH	NA18962.hp1 NA19088.hp2 NA18962.hp1 NA19088.hp2	a0047 a0047	a0047c0048 a0047c0048	a0047c0048t0001 a0047c0048t0001	a0047c0048t0001g0155 a0047c0048t0001g0159 a0047c0048t0001g0155 a0047c0048t0001g0159	2	378	0.0053	-2736	c.217 others(14): Show c.2171-9_2554+41del	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	20/64				chr19	TogoVar
GALNT9_chr12_132191372_132334589	132232433	AGACAGCG others(2725): Show AGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAG ACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGAC AGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAG TGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCG TGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTG GAGTCCCTACTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGA GTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGT CCCTACTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCC CTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCT AGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAG TGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTG CCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCC ACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCAC ACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCCTACTGCCACA CACTCCATGGGGCGACAGGAGACAGCGTGGAGCCCCTAGTGCCACACACT CGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCG ATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACACTCGAT GGGGCGACAGAGGAGACAGCGTGGAGTCCCTACTGCCACACACTCGATGG GGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGG CGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCG ACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAG AGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGTGACAG AGGAGACAGTGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAG GAGACAGCGTGGAGTCCCTGGTGCCACACACTCGATGGGGCGACAGAGGA GACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGA CAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACA GCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGC GTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCAT GGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGG AGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAG CCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTC CCTGGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCC TAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTCCCTA GTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACA CACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACA CTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACACT CGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCG ATGGGGCGACAGAGGAGACAGCATGGAGTCCCTAGTGCCACACACTCGAT GGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGG GGCGACAGAGGAGACAGTGTGGAGCCCCTAGTGCCACACACTCGATGGGG CGACAGAGGAGACAGCGTGGAGTCCCTGGTGCCACACACTCGATGGGGCG ACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAG AGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAG AGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAG GAGACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGA GACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGA CAGCATGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACA GCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGT GTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGT GGAGTCCCTGGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGG AGTCCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAG TCCCTAGTGCCACACACTCGATGGGGTGACAGG	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0006 a0001c0039t0006	a0001c0039t0006g0001 a0001c0039t0006g0001	1	182	0.0055	-2732	c.107 others(21): Show c.1077+12745_1077+15476del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10				chr12	TogoVar
MBL2_chr10_52760380_52777784	52766742	TATTTGTA others(2725): Show TATTTGTAATACACATTAAAAAGGACATATTCAGAATGTAAAAATAACTT AAAAATCAGTAAGAAAAATATTGGCTAACTAATTTAAACAAAATACAAAA ATGTGAACGGGTACTTCACAAAAGAAGATACCCAAGTGCCCAATAAGCAT ATAAAAAAGTGTTCAACCTTATTACATGTTGGGGAAATACAGATTAAAAC CATGGGGAAATATCACTTTACATCCACAGGAATAATGAAAATCAAGAGAA CTGAAAACATTGACTTTTTACAAGCACATAGAGCATCTAGGACTGCCACA CATTGCCGGTAGGAGCATAAATTCATACAATCACTTAGGAAAACTGGTAA TATCTACTAAAGCTGAATACATGCTTTCCTCATCCTCTACCAGTTCCACT CCTGGATAGGTAGTGAAATTAGTGCACCATGTCCACCAAAAGACAAGTCC AGGAATGTTCGTGGGTTCTCTTCCTCATGGCCAAAAATTGGAAGCCACTT AAGTGCCTATTAACAATAGAATGGATGAACTGAGGAATATTAATATAAGG GAACCCTACATGGCAATGAAAAGGATGAAACTTTTGTACACATGACATGA ATGAATCTCACAGACTTAATTCTGAGTAAACAAGACATACAACATTACAC ACAATATGATTCCAACTATACAATGTTTATAAACAGACGAAATTACTGTG CAGTCATGGAGGTCAGAATAGTATTTTCCTAGGAGTTAGTACTAGGAGGA GTTATAACGGGGCTTCTAGGGAGTCAAAAATGTCCCATATCTTAATCTAG AAAGTGAGTATATAGGTATGTATGTGTGTGAGAATTTGTGAAGCTGTTTG CTTGAGATTTGTTATTTATGTTCTTTACATGGTTTAATATCTCATTAGAA AGAAAACAGAGTTCATAGAGAAAGTTACAAAATAGATTTTCTTAATACCT GAAACTTGGTAAAAAGCTGTGGTATTAAACTGTGGTGATGTCATTAGGGG AGCCCTCTACCCAAACAGAAAGGAAGGCTCAACAGAGCACAGGTGTTTGT TGTAAATGGAAAAATAAATCCGTCTTATTTTCATACTGCAGCAAGTTAAC ACTATCGAAAGCATTACAGATTAATTAAACTAGATAATTAATGTAGGATG CAAAAGATAGGGCCTCATAGTATATATTAAAAATATTATATAATTAGCAT GACTACTACTGCTGCTGCTAACTACTACTACTACTATTATTGCTTTGTTG GTGCTGTTAGTGATCATTTTTAGTGATTGCCCACAAAAGGAACAATACTG GATATGAGGAAATTGATATAATTTATCTTTTCAAGCATACTGTGGGCCTG TGGGTTGCAGTAAAAAGACAAGGAGGGCCTGAGTGATATGACCCTTCAGA TAGGGAACTCACAGACGGCCAGATGGGAGGTGGAGCAGGGGACGTCATTC CACTGGCCATTTTTCAGTAGCAATACACAATCTTCATCAGAACCAGCATT GTTGGGTTCACCCTCGTTCCAGTTTGTGTAGGTCAGTCTATTTCCTGTCA GATCCACAAACTGCCCTTCTGTCTTCTCATCAGTGATGCCCAGGAAGGCT TCCTCCTTGATGAGATTCTGAATGGCTCCATTCTCTGCAGCATTCCTGGG GGTGGCCACAGAGGCCTGGAACTTGACACACAAGGCCTTCACTTTTTCAA AGGTCATTATTTCACCATTGGTCAGGAAGAACTTGTTCCCAACTTGTTTG CCCAGAGAGAAGGTGAGCCCTAAAATGTGAAAAAGTGGGTGAAACTGACT CATCCTTAAGCCCAACTCAAGGTATTTCTCAAGAAAAAGTCTTCTAGAGT ACAGTTGCCGGATAAAATATAGTATGTCCAGTTAAATTTGAATTTCAGAC AAACAATGAATATTTTAGTATATCTCCCATATAATTTTTCAGACACACTT ATACTAAAAATGTTTTTCAGCTGAAATCCAATTTAACTGGTGCTTTGTCT TTTTATTTGTTAAATATGGCAACCCAAATGTGAACAGACAGACTGGTACA AAGGCCTCTCTGTGCTTTCAGATCAGAATTCTAAAAGACATATAATTTGG ACTTCTGAATTCTAAATTGTTAACTTGAGACCAAACAAAAAATGTCTGAA AATATTTGCCCCAGGCAGGTTAGACCCCACGGCCAGGTCTCAATACCAGT GCAACAAAGGGATATAAGTCCCATTTTCAGTGAGCAATATCAGACGGTAA AGGATTAGGGTCTCTCGAGTCAGACTGACTTCCATCTATAAACCACCCCT GCCATTTATTAGCTCTGTGCATTTGAACAAGTAATTTAACTTCCCTTTGC CTCCATTTCTACCAAAATGTTGTGAGAATTTCATGAGGTAAGAATATGAG AAATGCCTAGCAGGGTACAGAAAATTATATGCATTCAACAAATATTTGTT GCATTCTATTTTTCCCAAACTTCAAGCTGCCTGGAGAGTAAGAGAAAAAG CTTACACTTTTTGATACGTGCCATTTCTGTTTGCAGAGCTTTTCTTTCTG AGGCAGCCAGGCTACTATCACCATCTAGAAAATTAGAACAAAGTAAAGAA GCATTGTTGAGAAGGAGCCTCAGAACTGTGCATATACAAGGGAGTGGAGT ATCTTTTTCAAACTGAAAAAAAAAGCTTATTTTACATTGATGTTTACACT TTGAAGGAAAATAAAAAATACTGAAAAGCCCAA	T T	exon_loss_variant exon_loss_variant	HIGH	HG02976.hp2 HG02976.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0010 a0006c0008t0010	a0006c0008t0010g0058 a0006c0008t0010g0058	1	432	0.0023	-2732	c.305 others(13): Show c.305-159_*1394del	MBL2	ENSG00000165471.7	transcript	ENST00000674931.1	protein_coding	4/5	2198/3561			chr10	TogoVar
SLC35B3_chr6_8406435_8440545	8432262	CAAAACTG others(2723): Show CAAAACTGAAAATCTTATAGAAAAAGAGTGGGGAAAATTTACAAATAATG CTTACATATTTACACATACATACAGAATAAATAAAACTTCTAGAAAATAT CTTTCTTTCCTGCTTTTATTGGCATCAAAACATTTCTCCAGAAGGTCACG CTTTCCCAAAGTCACCTTCTTCTGAGATGTTTGTAATTTAGTAAACTGCC AAGCATATTGTAATGACTCAATACAATTATAGGTAATAGTATAAGAAAGC AGTATAGCATAATGCTTTCCCCATGCTTTGGAATTTTGACAGATATGAGT TCAAGATCTGGCTTTACTACTTATTAGCTGAGGAGCCTTGGGCAAATCGT TTAACTTTTCTGAGCTTTAGGTTCTGCACCTTCAAAAGTGGGAGGAGTTA AAAATGTGCCTATCACAGGATTTTGGTTAGGACTATATGAAATAAATGTA AAATTGCCTGGCATATGACAGTCCATAAGTGTGTTAGCTGTCATCCTTCA ACTTTTTAGAAATATTGCTAGGGTGATATGGTGTGCTCAAGCTGACTCAC CCCTTTGATGTGCAGCTGGAAATACAGACCTGAATTTCCAACGCTGCCTT CTCTCCTGAGATCCAGAGCTCTACGTCTAAATGCTTCTTTGATACCTCTA CTCATAAGCTCTGCTGGCACTTCATATTTAAAATGGCCAAAGCTGATTAT TTTCCCCTCAAAACAAATCTACTGTTTGTTCCTATATTCCCAATCTCACT TAACAGTACCTAGTATGAAACACAAGCTAAAAATCTGGGAGTCATCTTAA GAATCTTTCCTTTTCCTCACATTCTATATTTTGCCAAGATTCCTGTTAAC TCTACCTCTATAACTATATCTAATATCTGTTTCGGACCCTACTCCATCAG GCAGCCATTTTCTCTTGCCTAGATTACGAGACTGTTTATAATCAATTCTT CCCTTTCTGACCCATCTGTCACATGGCTCAACGTGAAGTCTGATCATGCT GCATCCATGAATAAGGCCTCGAAGTTAAAAACGAGTTGATGTCCTGGACT CAATCATATTATACATATTTTTCAAATTCCTAAATGATAATGGTATAGCT TTTTCGTTTTTATACTTGTTTCTCCTAAAAGCCTATGAAATCCTTAAGGC AAGAGATATCTTCCTATGATGTTCTGGCACATAACAAAAATGTAAGATTA AATGAAGGACTCTACCACAGTTTAGCAAGCACCATTTATTTAATCAACGT TATTCAGCTCCTTTCCAACACTTTACCACTTCTAATACACTTCTTGGCAA CTTTATGTGCTGCAGATCTAGGCCATATGTGCAGAATGAAATCTCTCTAG CACTGTCTTTTCTACATGTATGCCAAAATACCGACATTGCTACTGAAACT CCCCACAAAACATTTGAAATGAACATGAAAATAAATTTGTTTCCTCTGCC TGAGGCATCAGTCTCATAAAACTTGCCCACCAAAGCCTTGCATTTAGAAT GCTGTTTTATTAATAAGAACATCACTGGTGAGAAAGTGTGACTGATAAAG ACCTCTGATACCTAATAACTGTGATCATTGGGGAATGTCTGCCATATCCC TTCCACTTCAAACATTAATGACTGATACTAACCATCATCTAAAAAAAAAA ATGGGCCAAACTCCTTGTGATGCAAGGAGCAAAAATGAAGCATGGAATTA AAATTAGTTTTCAGACTAAATGATCAACATTGTGCTTTGCTTTTGAAGCT CACAGTAATCAGTGAAACTAAAATATATATATATATATTTTAAAAATCAC AGGTGTGTATAATTGCCTGAGGCCTCTTCCTAAATTCAACACAGATATTC AACTTCAACTGCTAAAATGGAATAAAAAGGTAGCATTTCCGGCATACAAT GTATATTTAAAAATTAAAATTAGTGATAATGTTGAGTTACAATGACCTAT TGAAGTCACAATTATTTCAGTTTATTTTTGAGTTTTCCGACCTGAAGGAC AAAAGTCCCACACCAAAAAAAGGTAGAATATGAAAAAAAAGTCATTACGG TGTCATTAACCTGAAAAAACGTGATTTTAACTATACTTTGCCACACTCAA CGTTACAAATAAAAGAATCTTACCATGCCATTATGCCTTGATTAACTGCG CTCCGGAATCAATCATGGCCTATGGTGTACGATTATAAAACAGAAAAAAC AAAGTTCCATCTCATTTCTTTGTACACACATCATTACACAAAGGTGGAGA AACCCTGTGCTAATGTTTGAAGACTATTCTTTTTTTTTTCCAAGAGAAAA AGTTAACACTAGGACTTTATATATTAAGTAATTAAGTAAAAATAACGCTG TCTAAATTATTTTGAAATGCTGCCTCTCTTCCAAGTTCCAAACTATCTCA ATTCACTTAGAAAAACGTTTAATCAAAAAACAATTCTAGGCTTCTGATAT CCTAATGTAGAAAAAATGCAGATACTCAACACTTAAGATTTTGTTAGCGC ACCAAATCATTCCATCTTTTACTTTCAATATTCCTTAAATAATAAAAAGA CGGGAGAGATAATTCAGTTGCAAAGACTGGAGGAAACTTGCAGAACTTCT AGTGGAAGTTTATGCCATAAACTTAATAGCCCAGCCAGAACAATCACATT CTACTGCAAGCCAAATGGAGAAAAGAGTACCTTGGAGTGCCCCTATTTAA TAAACACGGAACGAGGAAACAGTTAACTGTA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02056.hp2 NA18984.hp1 HG00438.hp1 HG02056.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	3	410	0.0073	-2730	c.-94 others(16): Show c.-94+351_-93-2106del	SLC35B3	ENSG00000124786.13	transcript	ENST00000710437.1	protein_coding	1/9				chr6	TogoVar
DYNC2I2_chr9_128628653_128661847	128649707	AAACTGGG others(2718): Show AAACTGGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGA GGCTGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTAACCA ACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATG GTGGTGCGTGCCTGTAGTCTCAGCTACTAAGGAGGCTGAGGCAGGAGAAT CGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCTGAGATCGCGCCATTG CACTCCAGCCTGGGTGGCAGAGCGAGACTCTAAAATATAAATAAATAAAT GAAAAATTTTTTAAAAAACTACTGGAAAGCAGCTGGATTAAACTAGTGGT TCTAGTGGTTCTCAAACTTTGCTAAGCATTAGAATCATTTAGGGAGATAT TATGAAACCAGATCCCCAGGTCATACCACATCCAAAGTAAGCCACAGTAA CTGCAAGTAGAACCCAGGAGTCCACATTTTTCAACACTTTCCAGGGCATT CCAGTGTTGACTACCTTTGAGAAGAGGAATGAGGAGGCCCCCCTCAGCTG AGACAGCAGGGCCAGTCACTGACACTCAGAAACTCCACGTGAACAGCACT GGCTTTCACTTGGCTTTCTGGTCAACAGTCCCATTCAACCCCATAAGAAG TATCCTAACAATCGCACTTCACAGAAGAGAGACTGCGTTACTAGTCCAGG GCCAAGCCACTGATAAAAAGGATCTGCACCCTCAAACTCAGATCGAAAAT TAAGGTCCAGGACACTGTCCCTCTAAACAGATAGGGACGTGGCAAGAAAA GTCAAGTCAGGCCAAAGACCATATATATATATATATATATATGCCACCAC GCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTCGGT CAGGCTGGTCTTCAACTCCCAGTCGACCTCAGTTGATCTGCAAGGCTCAG CCTCCCAAAGTGCTGGAATTACAGGCATGAACCACCACACCCAGCCCCAT TTTTGTATTTTTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTG AACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGA ATTACAGGCGTGAGCCACCACGCCGGCCCATAGATTACTTGTATAAAGAA CAAAAAGTTAACTCAAAAAGCACCAGGCAGCAGTGGCGCAGTAGTCACCA TGACGGCTAAGGGGCTGGGTGCGGTTCTGCCAGGCTAGGAGCACAACCGG CACCCAGAATCTGTCGCCGCTGCTTGAACACAGCCTGCACCATGGCCACC TCTGCCCCCTCCTCGGAGCATGTCGGGAAGCGGCATGAGATCTTTCACTG TCTCTATGAAGGCCTACAAGGAGTGCCCAAGCACCTGCTGGGTGCAGTGG GGACCAAAGAGAAGTTGATCAGAGATTTTGATGAAAAGCAACAGGAAGGA AACAAAAAGCTGGCAGAGATGGAGGAGGAACTACATTATGCACCTCTATC TTTCCGTAACCCCATGATGTCTAAGCTTCAAAACTACCAGAAGGGCCGGG GGTAGTAGCTCATACCTGTAATCCTAGCACTTTAGGAGGTCGAGGTGGGC AGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAA CCCCATCTCTACTAATAATACAAACATTAACCGGCCGTGGTGGCGCACGG CTGTAATCCCAGCTTCTCGGGAGGCTGACGCAGGAGAATCGCTTAAACCC GGGAGGCAGAGGTCGCAGTGAGCCAAGATCGTACCACTGCACTCAAGCCT CAGCAACAGATCGAGACTGTCTCAAAAAACACTACTGGAAGGACCTTGCC AAACTATCAGGAGATGAGAAGCACACCTTGGAGAGCCACAACTGGAGGCC GAGGAGACATGAAATATGGCACACAGCCAGGCACGGTGGCTCACACCTGT AATCCCAGAACTTTGGGAGGCCGAGGCGGGCAGATCACCCAAGGTCAGGA GTTTTGAGACCAGCCTGGCCAACACAGTGAAACCCCATTTCTACTAAAAA TATAAACAATTAGCTGAGTATGGTGGCAGGCGCCTGTAATCCCAGCTACT CAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCA GTGAGCTGAGATAGCACCACTGCACTCCAGCCTGGGTGACTGAGTAAAAC TTCATCTCAGAAAAAAAAAAAAAAAAAAGAAAGAAATATAGCACATGTGC TGCAGAGAATGAGCACATGGACTGGCTACAATCTCAAAGGGCAATGCTTC TACAAGGCACTGGAAGCCTGATCCAGGTGACCCGAAGTACTGAACATTCT CATCAGACTGGCACAGAAACTGACCAGATTGGCTCAGAAATCACAGAAGA ACCAGAGGAACAAGACAGACCAATTAGAAAGCACCAAGAATCGGGCCAGG TGCGGTGGCTCACGCCTGTAATCGCAGCACTTTGGGAGGCCAAGGTGGGC AGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAA CTTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGCAC TTGTAATCCCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACCC AGGAGGCAGAGGTTGCACTGAGCTGAGATCATGCCATTAAACTCCAGCCT GGGGAACAAGAGCGAAACTTCATCTC	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02965.hp1 NA18906.hp2 HG01496.hp1 HG02965.hp1 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0001 a0001c0003t0001 a0001c0005t0001	a0001c0003t0001g0279 a0001c0005t0001g0280 a0001c0005t0001g0282 a0001c0003t0001g0279 a0001c0005t0001g0280 a0001c0005t0001g0282	3	366	0.0082	-2725	c.186 others(17): Show c.186+4109_186+6833del	DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/8				chr9	TogoVar
GAL3ST2_chr2_241771822_241809287	241805206	ACCTTCCC others(2718): Show ACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC 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 TTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAC CTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCTCA GCCCAGGGACCTCTGCAGGCCACCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0046 a0003c0007t0001g0046	1	306	0.0033	-2725	c.10 others(11): Show c.1041_*3765del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding			920		chr2	TogoVar
IFT52_chr20_43585937_43652299	43643243	TGGGAGGC others(2718): Show TGGGAGGCCGAGGCAGGTGGTTCAGCTGAGGTCAGGAGTTTGAGACCAGC CTGGCGAACATGGTGAAACTCCATCTCTACTAAAAATATAAAAATTAACC AGGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTAGGGAGGCCGAGGCA GGGGAATCTCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATGGC ACCACTGTACTCCAGCCTGGGTAAGAGAGTGAGACTCTGTCTCAAAAAAA AAACAAAAAAATAGAGCTGGGTAAGAGGGATCAAGTGTGCTGAGTGTGGC CATGATGACTGGTGAGTATTAAATAGGGAGATCAGGGTGGGTTTCATTGC AAAGTTGTATTGGAGCAAAGATTTGAAGGTGTTGAGAGACTTAGCCATGC AGATATCTGGGGGAGGAGTGTCCCAGGCAGAGGGGAGATGTGTGCAAAGT TCCTAAGGCTGGGCTGTGCCTGGTATGCTTGACGAACGGCAGTGATGCCA GTGTGACAAGAGAACAGAGGAAAGGACAGAGCAGTAGAACATGAGGTGAT CACCTTATGTAAGAAATGATTTTCTCAGGCCGGGCACCGTGGCCCACACC TGTAATCCCAGCAATTGGGAGCCCAAGGCGGGCAGATCACAAAGTCAAGA GATTGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAT ACAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTCCCAT ACTCGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTT ACAGTAAGCCAAGACCACACCACTGCAGTCCATCCAGCCTGGCGACAGAG CAAGACTCTGTCTCAAAAAAAAAAGAAAAAGAAATCATCTTTCTCTGACT GAGGACCAAGAACTTCAAAATTATCCCTGGCCTTCTTTTTTCCAAGGATT TCAAAAATTGAATGCCCAACCAGCTTTGGTAAATAGGCATTCATACACTA CTGATGGAGAATAAGTTGGTTCCACTTGTCTGGAGATATTTTTATAATAC TGTTGAAAAGCCCTAAAATGTATATACCGTTGACCCATTCTAATCTTCAG AATTTGTTTTAATAATATAATTCGGAATACGTACAGATTTATCAACCAGG ATTCTCAGTGCCACATTATTTTATAGAAGAAAAATCTTCATCAATAGGGA ACTGGTTAAGTATCCTAGGGTACATCCATAAGATAAAAAATGTTTTTAAA AATGTTTGGCCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGGCTGAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACTAGCCTGACC AACATGGTGAACCCTCCTCTCTACTAAAAATACAAAAATTAGCCAGGTGT GGTGGCGTGCACCTGTAGTCCCTGCTACTCAGGAGGCTGAGGCAGGAGAA TTGCTTGAACCCGGGAGACAGAGGTTGGCAGTGAGCCAAGAACGTGCCAT TGCACTCCAGCCTGGGAGACAGAGTGAGACTCTATCTCAAAAAAATAAAT AAAAAATAAAAATAAAAATGTTTAAGGACTTGGGCCAGGCGCTGTGGCTC ACATCTGTAATCCCAACACTTTGGGAGGCTGAGGTGGGCGGATCACTTGA GGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTA CTAAAAATAAAAAAATCAGCTGGGTGTGGTGGCCCGTGCCTGTAGTCCCA GTTACTCAGGAGGCTGAGGCAAGAGATTCGCTTGAACCTGGGAGGCGGAG GTTGCAGTGAGCCAAGATTGCACCACTGTACTCCAACCTGGGCAACAGAG TAAGACTCAAAAAAAAAAAAGTTTAAGGACTTGGGAATACATTCGTGATA CAGTAAATATGTGGTGGGGAGAGACTAAAGAACAGTATATAGAGAGATTC TACTTTCTTTACAGAATACAATACACACATAGAATTATTTTGCATAATAA AAAAATAACATAAAGATATTTATCCTTGGGGCCCAGTGCGGTGGCTCACG CCTGTAATTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACGAG GTCAGGAGATCGAGACCATACTGGCTAACACAGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGCCGTGTTGGCGGGTGCCCATAGTCCCA GCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCAGAG CTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAG TAAGACTCTGTCCCCCCCAAAAAAAGAAGATATTTATCCTTGGGCTGGGC ACAGTGGCTCACGCTTGCAATCCCAGCACTTTGGGGGGCCAAGGTAGGTG AATCATTTAAGCCCAGGAGTTCTAGTCCAGCCTGGGCAACAGAAACTCCA CATCCATAAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGT AGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCATCTGAGCCTGGGG AGGTTGAGGTTGCAGTGAGCAGTGATCATGCCACTGCACTCCATCCAGGG TGATAGAGTGAGACCCTGTTTAAAAAAAAAAAAAAAAGATAGTGTTTAAT TTTTATTTTCCTTCTTTATTAAAATTTCTATAGTGGGCCGGGCGCGGTGG CTCACGCCTGTAATCCCAGCACTTTG	T T	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	298	0.0034	-2725	c.126 others(17): Show c.1266+622_1267-966del	IFT52	ENSG00000101052.13	transcript	ENST00000373030.8	protein_coding	13/13			INFO_REALIGN_3_PRIME	chr20	TogoVar
NEU4_chr2_241804193_241822413	241805206	ACCTTCCC others(2718): Show ACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC 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 TTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAC CTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCTCA GCCCAGGGACCTCTGCAGGCCACCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0031	1	313	0.0032	-2725	c.-40 others(11): Show c.-4071_-1347del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding			3986		chr2	TogoVar
IFT52_chr20_43585937_43652299	43643224	ACCTGTAA others(2717): Show ACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGTTCAGCTGAGG TCAGGAGTTTGAGACCAGCCTGGCGAACATGGTGAAACTCCATCTCTACT AAAAATATAAAAATTAACCAGGTGTGGTGGTGCACGCCTGTAATCCCAGC TACTAGGGAGGCCGAGGCAGGGGAATCTCTTGAACCCAGGAGGCGGAGGT TGCAGTGAGCCAAGATGGCACCACTGTACTCCAGCCTGGGTAAGAGAGTG AGACTCTGTCTCAAAAAAAAAACAAAAAAATAGAGCTGGGTAAGAGGGAT CAAGTGTGCTGAGTGTGGCCATGATGACTGGTGAGTATTAAATAGGGAGA TCAGGGTGGGTTTCATTGCAAAGTTGTATTGGAGCAAAGATTTGAAGGTG TTGAGAGACTTAGCCATGCAGATATCTGGGGGAGGAGTGTCCCAGGCAGA GGGGAGATGTGTGCAAAGTTCCTAAGGCTGGGCTGTGCCTGGTATGCTTG ACGAACGGCAGTGATGCCAGTGTGACAAGAGAACAGAGGAAAGGACAGAG CAGTAGAACATGAGGTGATCACCTTATGTAAGAAATGATTTTCTCAGGCC GGGCACCGTGGCCCACACCTGTAATCCCAGCAATTGGGAGCCCAAGGCGG GCAGATCACAAAGTCAAGAGATTGAGACCATCCTGGCCAACATGGTGAAA CCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCATGC CTGTAGTCCCAGCTCCCATACTCGGGAGGCTGAGACAGGAGAATTGCTTG AACCTGGGAGGCGGAGGTTACAGTAAGCCAAGACCACACCACTGCAGTCC ATCCAGCCTGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAGAAAAAG AAATCATCTTTCTCTGACTGAGGACCAAGAACTTCAAAATTATCCCTGGC CTTCTTTTTTCCAAGGATTTCAAAAATTGAATGCCCAACCAGCTTTGGTA AATAGGCATTCATACACTACTGATGGAGAATAAGTTGGTTCCACTTGTCT GGAGATATTTTTATAATACTGTTGAAAAGCCCTAAAATGTATATACCGTT GACCCATTCTAATCTTCAGAATTTGTTTTAATAATATAATTCGGAATACG TACAGATTTATCAACCAGGATTCTCAGTGCCACATTATTTTATAGAAGAA AAATCTTCATCAATAGGGAACTGGTTAAGTATCCTAGGGTACATCCATAA GATAAAAAATGTTTTTAAAAATGTTTGGCCAGGAATGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGA GTTCAAGACTAGCCTGACCAACATGGTGAACCCTCCTCTCTACTAAAAAT ACAAAAATTAGCCAGGTGTGGTGGCGTGCACCTGTAGTCCCTGCTACTCA GGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGACAGAGGTTGGCAG TGAGCCAAGAACGTGCCATTGCACTCCAGCCTGGGAGACAGAGTGAGACT CTATCTCAAAAAAATAAATAAAAAATAAAAATAAAAATGTTTAAGGACTT GGGCCAGGCGCTGTGGCTCACATCTGTAATCCCAACACTTTGGGAGGCTG AGGTGGGCGGATCACTTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACA TGGTGAAACCCCATCTCTACTAAAAATAAAAAAATCAGCTGGGTGTGGTG GCCCGTGCCTGTAGTCCCAGTTACTCAGGAGGCTGAGGCAAGAGATTCGC TTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGTAC TCCAACCTGGGCAACAGAGTAAGACTCAAAAAAAAAAAAGTTTAAGGACT TGGGAATACATTCGTGATACAGTAAATATGTGGTGGGGAGAGACTAAAGA ACAGTATATAGAGAGATTCTACTTTCTTTACAGAATACAATACACACATA GAATTATTTTGCATAATAAAAAAATAACATAAAGATATTTATCCTTGGGG CCCAGTGCGGTGGCTCACGCCTGTAATTAATCCCAGCACTTTGGGAGGCC AAGGCAGGTGGATCACGAGGTCAGGAGATCGAGACCATACTGGCTAACAC AGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGCCGTGTTG GCGGGTGCCCATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGT GTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCAC TCCAGCCTGGGTGACAGAGTAAGACTCTGTCCCCCCCAAAAAAAGAAGAT ATTTATCCTTGGGCTGGGCACAGTGGCTCACGCTTGCAATCCCAGCACTT TGGGGGGCCAAGGTAGGTGAATCATTTAAGCCCAGGAGTTCTAGTCCAGC CTGGGCAACAGAAACTCCACATCCATAAAAAAATACAAAAATTAGCCAGG TGTGGTGGTGTGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGA GGATCATCTGAGCCTGGGGAGGTTGAGGTTGCAGTGAGCAGTGATCATGC CACTGCACTCCATCCAGGGTGATAGAGTGAGACCCTGTTTAAAAAAAAAA AAAAAAGATAGTGTTTAATTTTTATTTTCCTTCTTTATTAAAATTTCTAT AGTGGGCCGGGCGCGGTGGCTCACG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(180): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01981.hp2 HG01993.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18945.hp1 NA18946.hp2 NA18950.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18959.hp2 NA18963.hp2 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18984.hp2 NA18990.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19004.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19055.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp2 NA19085.hp2 NA19088.hp1 NA19089.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0002 a0005c0004 others(1): Show a0001c0001 a0001c0002 a0005c0004 a0006c0005	a0001c0001t0001 a0001c0002t0001 a0005c0004t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0005c0004t0001 a0006c0005t0003	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 others(172): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0002t0001g0121 a0001c0002t0001g0129 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0267 a0005c0004t0001g0190 a0006c0005t0003g0157	183	298	0.6141	-2724	c.126 others(17): Show c.1266+636_1267-953del	IFT52	ENSG00000101052.13	transcript	ENST00000373030.8	protein_coding	13/13			INFO_REALIGN_3_PRIME	chr20	TogoVar
HIVEP2_chr6_142746469_142950176	142906133	CAAAAAAA others(2715): Show CAAAAAAAAATTAATAATAACAATAATCAGAGAACAACACTATCTTTATC ACTGTAATTTTTAAATAACTTTGAAGGCATTCATGAAAAACTAACCAGAA ACAGATAATCTAGATTAGGTAAAGCTAATATCATTTAAATGTGCAAAATA ACAAAACGAGAATTAAATCACATTGAGAAATAGTAGAACCAAGTAGATAT AAGGTAACAAGAATTAATATTTAAAATATATAAAAAGCTCATAGAAACTT ACTTTTCAAAAAATAACTAAGAAATAAATTAGAAAAGATATGCCAAGTCA ATCCAGACAAAGAAATGTAACAAATAAAGAAACCTCTTTAATTATTATTA AAATGCAAACCAAAACAACAATGCAGTCAAAATTTTTACTTTGGCACAAT CATGATAAAAATGGGAAGCAATTTGAAAATGAGGACCATGTATGATAAAA AATATTCATTCCCTTTGAAAAACAACCCCAAAAGAAAAAAAAATGAATAT TCAGCAATAAGGGGATTTTTAGAAAATTGTCACCATTAAATTAGATCAAA AATATGCAGCCATTAAAATCAGAATATGGTAATATGCAAAATGAAAGTGT TTATAAAAATGATTTTGAAAGTAAGGATTGTATCAATATCATGATTATAA CTATTTCAAGTGTATGAATGTGGGCAAAGATCAAAGAATATACAAGGAAA AATTCTAAAAATCAAGTTGATACATTATAAAAGCCTATAAGATAGTTATG CATCTTTTCTTTATTGGTGATATAATATTGCTTTTGTGATAAATTAAAAA CTTGACAAAAACAAATAAATTACAGCAAGCTAGTCAGCTCCAAAATTAAA TCTCCCAAATGCATCAACCAGTACCTACCATAAAACAATGACTGTTCCAC AGGAGAGTTCACCAATGGCCAGATCTCTGTAACCAAAGCAAGACCTACAT CTTACATGAAATGAAACTGTGAATGGTCCGTAGCATATTCATACTCTTTA AGCTATTAATCCATGCCCAAGTGCTTAAAAAGTTTACTATCTAGCATATG ATGTTGGAGATTGTTCATTTCTATCCTTGTGATTGTACTACATCCATTAT TTCTATGGGAGTTCAGTATACACTACCAAATCACATTGTTTGAATACAGG CAATTCTCAACTTACAACCACCTGACGAAAACCAAAAATAAAACCAGCTG CTGCTTTCCCCGGGTTGTCGCCTTCTAGCACTACCAGTAGTCTTACTGTT ACCCCTAGAGAGTCTCAGCTGTTGTGAAGAAATCTAAAACTTTTTAGAGA ATTTGGGGGAAGAAAGGGTCAAAGCAATAAAACAGTACCAGATAGTGAAT ATACACAAAGCACACAAAGCCATTGCTTACCCTGAGTCGTACTCAGTAAA GGTTTGATGAATGAATGAATAAATTTCCTTTTCACCTCTGTAATTTGAGC CCCACTACTTTGCCTCTACCCTACTCCAGCAGCCTGTTAACAAGCCTCCT TTTGGGGCTCTCGATTCATGGAGCTGGAGCTCAAGAAGGGAGTGAAACCC CATAAACAAACAGCTGTGATCAACAGGCTGTCCACTGGGCAATTCAACAG AGAGGACCTGCGCTCAGGACCAATCCAAAAACGTCTGTTCTTGTGACCTC CCCTAGAGCATCGGTATGATGTATACTCCAATTGTACTTTGATGGCCTTA AAGGAGCAGAACCACTTTAAACATATCTAAAGTCTAATAACTTTTCGATT TATTTCACCCCATGTATTTCTAACTAATCTTTCATCTTCTGAAATTTCAA GCCACTCCATTACTCAAAAATCTTCCTCAGCTCTCTCTTACCAACTGAAT TACAGAAAATCAAAGAAACTCAAAGTTTGAGAGGTCTGAAAGGACTTTTA GCACAACAACCTAAAGAACAGGGCAAAACAACTTCACTCTTTCATTCAAG TTCCATCACAACATGGTCCAGGCCTTCCTACTTATGATTCTCAGATCCTA ACCTTGTATATTTCCCATCTCCTGACTTTCACTCATGCCACCATTTATAT CATACTCTATTTGAATGGTGCCCTCACGATTTTACAAAATCCAACTCTTG GGCAGCCATATGTGGTGTTCCTACTTTCACTTGTAACATATGTCCATCTT CCAACCCATCGCTGCTTCTAAAGATGTTAACCAATCCTCAAGGTCCACAT TTTCCAGAAAAACCTTTCCTGGTTCATGCAATTGGTCTTTTTCTCTGAAC TTTCATTTCATCTGGTTTATGCCTGTTTTTTGCATATTCTGTCTTTTCCA GTAAAATGAGTTAGTCATGCTTGCCATTAACAATATTAGATTGCATTCTC TCTGAGAACATGATGTAGGGTTCACATTTATTTCTATATAGTTTCTAGCC CATTGCCAAAATCAGAACAGGTACTCAAATAATTGTTGGCTGGGACCTTT GATTGGTAAGAAAATACAGATGACTTTGGAACTAGAAAAATTTAAAGGAG TGATTTAGACTGGAATGGACTATAGCAATCAAAGACCAAGAACTAAATTT GGATAACTTGGTGCCTTCAGGTTGACTGGGTTGAGAAGGGTGCTAAGTGG TAGGATGTCACTGTCAAAAACATACTTTTCCCTATTTCAAAATTTTGCCT TAGACCAAATATGTACCTATGGAAAAAGACTTCCTCTCATCTTTTCCTCC ACTCTGTAAGATACCACCTCTCA	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	286	0.0035	-2722	c.-64 others(21): Show c.-641+36244_-641+38965del	HIVEP2	ENSG00000010818.11	transcript	ENST00000367603.8	protein_coding	1/9				chr6	TogoVar
FXYD4_chr10_43366636_43381335	43368608	TCTGTAAT others(2712): Show TCTGTAATCCCAACACTTTAGGCAGCCAAGGGAAGTGAATCACTAGAGCC CAGAAGTTTGAGACCAGCCTGGGCAACATGGCAAAACTGTCTCTACCAAA AAAAATACAAAAATTAGCCTGGCGTGGTGGCGTGCACTTGTAGTCCCAGC TACGCAGGAGGGTGAGGCAGGAGAATTGCTTGTTCCAGAAGGTCGAGGCT GCAGAGAGCCATGACTGTATCATTGCACTTCAGCCTGGGCGACAGAGGGA GACCCTGTCTCAAAAAAGATTAAAAAAACAGCTAAAATCCTGTTAAACGT TCCTAAACTGTGTCTATATAAACGATCCCAGGCCAGGCACGGTGGCTCAT GCCTGTAATCCCAGCACTTTCGGAGTCCGAGGCAGGTGGATCACTTGAGG TCAGGAGTTTGAGACCAGCCTGGTCAAAGTAGTGAAACACTGTCTCTACT AAAAATAGAAAAAATTAGCTGGGCATGGAGGCTCGGGCCTGTAATCTCAG CTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCCAAAAGGCGGAGG TTATAGTGAGCAGAGATCGTGCCACTGCACTCTAGCTTGGGCAACAGAAT GACTCTGTCTCAACAGAATGAGACTCTGTCTCAAAAAAATAAAAATAAAA TAAATGATCCCAAACTTCTACATTTTACGTATTTATTGTGAGACAGGTCT CCCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCTTTCTGGGCTCACAGCA GCCTTGACCTCCCATGCTGAAGCGATCCTCCCACCTCTGCTGGAGTATAG GTGTGTGCCACCACGCCAGGCTGTTTGTTCTATTTTTTTTTGTAGAGATG GGGTCTCGCTATGTTGCCCAGACTGGTCTCAAACTCCTGGGCTCAAGTGA TCTGCCCACCTTGGCCTCCCAGAGTGTCAGGATTTAACCCCCACACTCCA CCGAGACTTTAAAACTCTGACTTCCATTCTTCTCTTTTTTTCTTTTTTAA GATGGAGTCTCGCTCTGTCGCTGAGGCTGGAGTGCGGTGGCACGATCTCA GCTTACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGT TTCCCAAGTAGCTGGGACTACAGGAGCGCGCCACCACGCCCGGCTAATTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTGGCCAGGCTGGTCTT GAACTCCTGATCTCATGTTCTGCCCTCCTCAGCCTCCCAAAGTGCTGGGA TCACAACCGTGAGCCACCGCCCCCAGCCATGACTTCCATTCTTTACCATC CTTACTTCCTGAGCAGGCCATCCTTAACCTTTACACTTAAATAAACTCCT TTAAACTAAAATCTAACCTGTTTGACTATTGTAGATTGACAGGCTAATGA GAGTATGAACCTCCAAAGACTTCTGTGAGGGCTAGGTGCAGTCATATATG CAATGAACTCAAGTAAACAGCTGGCTGAGGAAACACCGGGACGCCTCCTC TGTGCTAAGCCCCATGCAGCATGCACACAGACACAGGCCCACCTCAGCCT CCCAAAGTGCTGGGGTTACAGGCGTGAGCCGCCTTTCCCAACCAATATTT TATATTTTTACACAAGTGACAGCATCCTATTCAGACTGCCCTATACTTTT TTTCCACTTAAAAGTATGTCTGGGCCAGACATAGTGTCTCACACCTGTAA TCCCAGCATTTTGGGAGGCCGAGGCAGTGGATCGCCTGAGGTCAGGAGCT CGAGACCAGCCTGCTCAACATAGCGAAATCCCATCTCTACTAAAAATACA AAAATTAGCTGGGCACAGTGGTGTGTGCCGGTAATCCCAGCTACTCGGGA GGCTGAGACAGAATTGCTTGAACCTGGGAGGTGGAGGTTGTGGTGTGCCA AGATCGAGCCACTGCACTCCAGCTTGGGCGACAGAGCGAAATTCCAGCTC AAAAATAAATATATAAATAAACAAACAAACCAACTAAACCATCATTGCCC TCCCCAGCCCTCCCAGCCCAGAGACCCCCATCCCTTGTCAGCCATCCCCC CTTACCTTCTGGACAGGGACAAGTGTCCCTCATTTGGAAAAGAATTAAGG AGGGGTAACAGCAGACTAGGGAGGCCTGGGGTCCTCCACACGCCTGTGTG GGGTGACTTTGGCCCCCAGCAACAAGGCAGGCCTGAGGTCTGCAGAGGGA GGCAGCCCACTCCTCAGCCGGGGGCGTCTATCCTCCTCCTGGCCCCATCC CTCACCTGTGGGGGAGGCTAAGTGGGTGTCAGGGCCCTGTCAGAGGGTGA GCCACCCCCGGGGGTGCCCATCGGCCACCAGCCTCCCTTCAGTAGACACC CAGCCCAAGTGACAGCAGTGGCATGGCACTGCTGAGCACAGGGAGCCTCA AGGTCAGTGCCTGGCTCCTGGTATCCTCCGTGGTCCCCAGGACACCCCCA CACAGAGGTCCCAGAACCCCCAAAGCTGGCACAAGAGCCCAGGAACACCC TGCCCAGCACCCTCCAGGTCCCTCTTTTAGGATCTGGGTGAGCTAAAGAA GCCAAAAGAAAGGCTGGGCGCGGTGGCTCACGCTTGTAATCCTAGCACTT TGGGAGGCCGAGGTGGGCGGATTGCCTGAGCTCAGGAGTTGGAGACCAGC CTGGGCAACACATTGAAACCCCATCTCTACTAAAATACAAAAAAAATTAG CCAGGTGTGGTGGCGTGCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	424	0.0024	-2719	c.-33 others(10): Show c.-3367_-649del	FXYD4	ENSG00000150201.15	transcript	ENST00000476166.6	protein_coding			3027		chr10	TogoVar
MAGEA4_chrX_151907889_151930170	151915276	GCGCCCCC others(2712): Show GCGCCCCCATCCCCCACCAGCACTCCTCCTCGACCCCCCACCTCTGTCAT ACCGCCATCTGCCACCCCAAAAACCGGGGCCCCTCCACCAACCTCACCCC TCCCACCCCCATCCACGCTGAATCGGGTTCCGCTTCCGCTTTCAACCCAC TCCCAAAAACCCGCCCCCTCCACCGACCTCCCCCCCACCCCCATCCACGC TGAATCGTGTTTCCGCTTCCGCTTTCAACCCAAGAAAGCCTCAGGGGCCC GGATGTGATGCCACTGACTTGCGCATTGGGGGTTAGAGAGAAGCGAGCTG CTGTCTGACCAGCAGCTTGGGATTGGTGGAAGGAAGCAGGCCAGGCCCTG TGAGGAGTCAAGGTGAGACGCTGAGGAGGACTCAGGAGGCCACCACCCCA GATAGACGACCCCAAATAATCCTGCACCACTCCTACCTGCCGTGGGCCAC CTGTGGGCGGACTTCTGAGCTTGGGGCGCCCACCACCCCACTGCCTCTGA AGTCGCAGGGGACTCTGGAGTCAGAGCTTGGGGTGTTTAGTGTAAGACTA GTGAGGCCAGGCTCTGCCGGGCATCAATCTCAGGACCCTAAGAGAGGGCT AAGCGTACCCCACCCCTATTCCCATCCCCCACCACGTCCCCTTTCCCATT ACCATTTGCACTCCCAAACCATCCACGCCCCATCCCCCACCAGCACTCCT CTCCTCTTCAACCCCCCACCTCTCTCATATCGCCATCTCCCACCCCAACA ACCCGGGCCCTTGTACCAACCTCACCCCTCCCACCCCCATCCACACTGAA TCACGTTCCGCTTCCGCTTTCAACCCACCCCCAAAAACCCGCCCCCTCCA TCGACCTCACCCCTCCCACCCCCATCCACGCTGAATCTGATTTCCGCTTC CTCTTTCAACCCAAGAAAGCCCCAGGGGCCCGGATGTGATGCCACTGACT TGCGCATTGGGGGTTAGAGAGAAGCGAGCTGCTCTGTCTGACCAGCAGCT TGGGATTGGCGGAGGGAAGCGGGCCAGGCCCTGTGAGGAGTCAAGGTGAG ACGCTGAGGGAGGACTCAGGAGGCCCCCACCCCAGATAGACGACCCCAAA TAATCCCGCACCACTCCTGCTACCAGCCGTGGGCCACCCGTGGGCGGACT TCTGAGTCTGGGGCGCCCTCCACCCCACTGCGTCTGAAGTCGCATGGGAC TCTGGAGTCCGAGCTTGGGGTGGTTAGTGTAAGACTAGTGAGGGCAGGCT CTACGAGGCATCAACCTCAGGACCCTAAGAGAGGGCCAAGCGTACCCCAC CCCTATTTCTATCCCCCACCGCCTCCCCTTTCCCATTACTATTTGCACTC CCAAACCCATCCGCGCCCCTATCCCCCACCAGCACTCCTATCCTCAACCC CGCACCTCTCTCACACCGCCATCTCCCACCCCAAAAACTGGGGCCCCTCC ACCAACCTCACCCCTCCCACCCCCATGGATGCTGAATTGGGTTGCGCTTC CGCTTTCAACCCACCCCCAAAAACCCGCCCCCTCCACCGACCTCACCCCT CCCACCCCCTTCCACGCTGAATCGGGTTTCCGCTTCCGCTTTCAACCCAA GAAAGTCCCAGGTGCCCGGATGTGATGCCACTGACTTGCGCATTGGGGGT TAGAGAGAAGCGAGCTGCTCTGACCAGCCGCTTGGGATTGGCGGAGGGAA GCGGGCCAGGCCCTGTGAGGAGTCAAGGTGAGATGCTGAGGGAGGACTCA GGAGGCCCCCACCCCAGATAGACGACCCCAAATAATCCCGCACCACTCCT GCTACCAGCCGTGGGCCACCTGTGGGCGGACTTCTGAGTCTGGGGCGCCC ACCACCCCACTGCCTCTGAAGTCGCAGAGGACTCTGGAGTCAGAGCTTAG GGTGTTTAGTGTAAGACTAGTGAGGCCAGGCTCTGCCAGGCATCAATCTC AGGACCGTAAGAGAGGGCTAAGCGTACCCCACCCCTATTCCCATCCCCCA TCACGTCCCCTTTCCCATTACCATTTGCACTCCTAAACCCATCCGCGCCC CCATCCCCCACCAGCACTCCTCCTCGACCCCCCACCTCTGTCATACCGCC ATCTGCCACCCCAAAAACCGGGGCCCCTCCACCAACCTCACCCCTCCCAC CCCCATCCACGCTGAATCGGGTTCCGCTTCCGCTTTCAACCCACTCCCAA AAACCCGCCCCCTCCACCGACCTCCCCCCCACCCCCATCCACGCTGAATC GTGTTTCCGCTTCCGCTTTCAACCCAAGAAAGCCTCAGGGGCCCGGATGT GATGCCACTGACTTGCGCATTGGGGGTTAGAGAGAAGCGAGCTGCTGTCT GACCAGCAGCTTGGGATTGGTGGAAGGAAGCAGGCCAGGCCCTGTGAGGA GTCAAGGTGAGACGCTGAGGAGGACTCAGGAGGCCACCACCCCAGATAGA AGACCCCAAATAATCCCGCACCACTCCTACCAGCCGTGGGCCACCTGTGG GCGGACTTCTGAGCTTGGGGCGCCCACCACCCCACTGCCTCTGAAGTCGC AGGGGACTCTGGAGTCAGAGCTTGGGGTGTTTAGTGTAAGACTAGTGAGG CCAGGCTCTGCCGGGCATCAATCTCAGGACCCTAAGAGAGGGCTAAGCGT ACCCCACCCCTATTCCCATCCCCCACCACGTCCCCTTTCCCATTACCATT TGCACTCCTAAACCCATCCC	G G	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0072 a0001c0002t0001g0072	1	342	0.0029	-2719	c.-13 others(19): Show c.-138+2729_-137-5037del	MAGEA4	ENSG00000147381.12	transcript	ENST00000276344.6	protein_coding	1/2			INFO_REALIGN_3_PRIME	chrX	TogoVar
GBP3_chr1_89001680_89027866	89010225	GATTCTCC others(2709): Show GATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCGCCTGCCA CCACGCTCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATG TTGGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCTGCCTCAGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTAGTT AACTAGTATTTGAAAGACAGGGTCTGGCTCTGTTGCCCAGGCCAGAGTGC TGAGGTGCAATCTTGGCTCACTGAACCTCCCGGGCTCAAGCAATTCTCCT GCCTCAGCCTTCTGAGTAGCTGGGACTACAGGCATGTGCAACAGTGCCCA GCTAATTTTTATATTCTTACTAGAGACATGTTTCACCATGTTGCTCAGGC TGGTCTTAAACTCCTGAGCTCAAGCAATCTGCCTGCCTCTGCCCTCAAAG TGTTAGGATTACAGGCTTGAGCCACCGCACCCGCCGACTGCACTCTCTTT GATGAGCACCTGGGACATACCTGATATAACAGTCTCCCTCCCTGCATATG TTATTGAATGAAAGCATGAATGTTATACAGACAAAAAAGCACATCTGTGT GCAGTGAAGCTTGGTCACTTTGGTGTTCGTAGGAGGTAGGTCAGCAGGTT TCCATAATCGACAGATGAATCTTGGTTACCTGTATCCCCTTCCTTGGTTC CTCATAGTACTTTTTCTCCAGGTCTTGTAGCTTCTGAATAAAGAGACAAT AGCCCCCTGGTTTCGAATAAATTCCCGCCTTCACTTCTTCTTCTAGAGGA CTGAAAATGACCTGAAGTAAAGCTGAGCAACGATCTGATGATGCTTCTTG ATTCTGTTTACAAAAGTCATCCCGCTTTTTGTCTAGCTGGGCCTTTAATG TAAAAATAGGAAGTAAAAAGAGTAACAGGGAAAGGATGTTAGCTTGACCT CAGAATTTTGGGAAAGACTTCCGAAAATAAACAGTCAATGATGCCGGAGA AACTGACAGACTCCTCAGCAGGACCACGCTCTTACTCCTGACCCCACTTT CTACTGAAATCGCTTTCTCTTTAGAGGTGAGGTTCAGGGCTGAGATTGAC AGCTTTATGTCAACTGTTAGAGGAAAGCTCTGCTTTTGCATATTGGACTA ATGATTTCATATGGAATAAATGTGGCTGAACAGAAGCCTGCTCAAGATAA CTAAGATGAAAATTTTCTTTGCATTTGGCTAGAATATCAAATCAGTCTGA GAAGAGTGGGCATGTAATTTGATTAGAAGCCCTGATTGTCAGTTATATGA ATTTAATAAAGGGAAGACCATTTATTGATAAGCAATGTTTTTAAACTTTG AGTCTGAAGTAATAAAATTGTTTTTGTCTGATTATTATGATTACCAAGAA CTAGTTGTCACCATTTTAAAATCTAGAATAATTATTTGTCTCAAAATAAA TACCAATTTCATTTCTTAGTAGTACTTTGCCTTCCAAAATCCAAATCCAT GTAAATGTGATAGAAAAATTACCGCTAATTTCTTTTGAAACAGATGGTCC ACATCCTTGAAAGAGTTCTTCATATAGACTTCAGTGGCCTCCCTCTCACT AACCCTGTGCAGGTCCAGCAGCTCCTGGAGGGTTTCTGCGGGCAGCTGCA CCTTCTGGCCCATCTGCTGGTCATAGTGGGCAATAGCCTTTTGCACTGCG GCTGAGTTCTCTATCTGGGCCAAGGCCAGGACTGCGTTCTCCATGCAGGG CAGATCCCCTCTGCTGATAGCATTGATATAGGTCAGCACTAGGCTCTCTA GACCTACATACAAAGAAGAAATGATAATGTTTCTTGTACTAAAGAAAACT CTCTATTCTGTGTAATTCTGAACATGTCAATTTCCACCTATTTTCCTCAC AGCATCAAGGTCCTCAGAATCATCTGGAAGCTTGCTGGAAATGCCTATTG TTAGCCTCTGTCCCAGATCTACTGAATTAGAGTTTTTTCTTTGGGTAAGA TCCCTAGATGATATGTATGCATATCAACATTTGAGAATCCTTGTTCTAGA TGACCTAGTCCTGTGTTAGTTGAATGTTTGCATCCATTTCAACCCCAAGC ACCATCAGGAAAGGAACCCATAGCTATTCCATATATGACTGTATCCTCAG CTTATTCACAGTAGCATTTGATCAATACTTATGGAACAAATGATACTCTC CTAATCAAAAGGAGCCCTCCGTTTGGTTTATTTTAGCACAGCATTGTCCA AGAAAACTTTCTGTAATGGTGGAAGTGTTCTGTATGTGCTGTTCAGTATG CTAGCCACTAAGTACATGTAAATATAAGCCTTTGAAATATAGCCATGTGA ATTGACCTTTAATTTTTCCTTATTTTAATTAATTTACATTTACATTTAGA TAGCCCCACTTGTCTAGTGGCTACTGTACTGTACAGTGCAGGCCCAGTTT ACTGTGGCAATTTTAAGTAATAAAACTTTTTTCCTTTGCTTTTCCTATCT TTTCCCACCAAGAAGGTTGACCAACAAAATCTATTAGAAATGTTGGTGTC ATCTAGAATTTAGCACAAATGTAGCAGTAGATTGGGATTTTTCAATGCTG ATACTAGGTGGAGTTATTCTATGCTCCTTTCATATTTTTTTTTTCCTCTG TCACCCAGGCTGGAGTGCAGTGGCGTGATCTCGTCTCACTGCAACCTCTG CCTCCCAGGTTCAAGCA	G G	exon_loss_variant exon_loss_variant	HIGH	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(79): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01361.hp1 HG01884.hp2 HG01943.hp2 HG02056.hp2 HG02132.hp2 HG02135.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG03195.hp2 HG03490.hp1 HG03492.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04199.hp2 HG04204.hp1 NA18747.hp1 NA18943.hp2 NA18944.hp1 NA18949.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp1 NA18964.hp2 NA18965.hp2 NA18971.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA19004.hp2 NA19007.hp1 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19062.hp2 NA19067.hp2 NA19076.hp2 NA19080.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19089.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0002 a0011 a0014 a0002 a0011 a0014	a0002c0002 a0011c0011 a0014c0017 a0002c0002 a0011c0011 a0014c0017	a0002c0002t0003 a0002c0002t0006 a0002c0002t0009 others(2): Show a0002c0002t0003 a0002c0002t0006 a0002c0002t0009 a0011c0011t0003 a0014c0017t0003	a0002c0002t0003g0008 a0002c0002t0003g0014 a0002c0002t0003g0015 others(52): Show a0002c0002t0003g0008 a0002c0002t0003g0014 a0002c0002t0003g0015 a0002c0002t0003g0016 a0002c0002t0003g0027 a0002c0002t0003g0028 a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0003g0072 a0002c0002t0003g0162 a0002c0002t0003g0163 a0002c0002t0003g0164 a0002c0002t0003g0165 a0002c0002t0003g0166 a0002c0002t0003g0170 a0002c0002t0003g0171 a0002c0002t0003g0172 a0002c0002t0003g0173 a0002c0002t0003g0174 a0002c0002t0003g0175 a0002c0002t0003g0176 a0002c0002t0003g0177 a0002c0002t0003g0178 a0002c0002t0003g0179 a0002c0002t0003g0180 a0002c0002t0003g0181 a0002c0002t0003g0182 a0002c0002t0003g0183 a0002c0002t0003g0184 a0002c0002t0003g0185 a0002c0002t0003g0186 a0002c0002t0003g0189 a0002c0002t0003g0192 a0002c0002t0003g0193 a0002c0002t0003g0194 a0002c0002t0003g0195 a0002c0002t0003g0196 a0002c0002t0003g0197 a0002c0002t0003g0198 a0002c0002t0003g0199 a0002c0002t0003g0201 a0002c0002t0003g0204 a0002c0002t0006g0029 a0002c0002t0006g0030 a0002c0002t0006g0056 a0002c0002t0006g0057 a0002c0002t0006g0168 a0002c0002t0006g0190 a0002c0002t0009g0169 a0002c0002t0009g0188 a0002c0002t0009g0202 a0011c0011t0003g0187 a0014c0017t0003g0191	82	434	0.1889	-2716	c.868 others(16): Show c.868+244_1362+678del	GBP3	ENSG00000117226.12	transcript	ENST00000370481.9	protein_coding	8/11				chr1	TogoVar
DPH7_chr9_137549444_137583925	137565602	TCTGTCTG others(2707): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGG GGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTG TCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGG TGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTC CGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGG TGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAG CTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0264	1	337	0.0030	-2714	c.641 others(16): Show c.641-3162_641-449del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8				chr9	TogoVar
SCP2_chr1_52922276_53056698	52951381	ACTTGAGC others(2703): Show ACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACGTAGTTAGAACCTG TGTTTATACAAAATTAAAAAAAATTAGCCAGGCGTGGTGGTCCCAGCTAT GCAGGAGGCTGAGGCTGGAGGATGTATGATCATACCACTGCACTCTAGCC TGGGCCACACAGTGAGACTGTCTCTAAAAAAAAAAAAAAAAAAAAAAAAT TAATTAAGGTAAAATAAAATTAAAAAGGCATTGTGAGATATAATTTATAG ACCATAAAACTCACCTTTTTAAAGTGTACGATTCAGTGTTTTTTGTATAT TCACAGAATTGTATACCTATCACCACTATGTAATATTAGAACTTTTTTTT TTTTGAGAGGGAGTCTTGCTCTGTTGCCCAGACTGGAGTGCCGTTGTGCC ATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCATGC CTCAGCCTCCCAAGTAGCTGGGATTACAAGTACCTACCACCATGCCTGGC TAATTTTTTTGTATTTTTAATAGAGACGGGGTTTCACTATGTTGGCCAGG CTGGTCTCAAACTCCTGACCTCAAGTGATGTGCTCACCTTGGCCTCACAA AGTGCTGGGATTACACCTTGGCCTCACAAAGTGAGGTGTGAGGCTTACCT TGGCTTCACAAAGTGCTGGTGTGAGCCACCACACCTGGTCATATTAGAAC ATTTTTATCACCACAGAAAGAAACCCTGTACCCATTAGCATTCATTCTCT ATTTTCTCCTCCCCTCAGTCCCTAGAAACCACTAATTTACTTTCTTTTTG TGGATTTTCATATTCTGAATATTTATATAAATAGAATTGTACAATACATG GCCTTTTGTGGTTTATTTCACTTAACACAATGTTTTCACAATTTATTCAT GTTGTAGCATATATCAGTACTTAATTCCTTTTCATGGCCAAATAATATTC CATTGTATGGATATATCACATTAAAAAAATAGATGGACTGTATTTTAAAC GTACAAGAAAAATAAAAAATAAAATAAGTAGAAATGAGGTCTTGCTATGT TGCCCAGGCTGATCTTGAGCTAATGGCTTTAAGCGATCTTCCTGCCTTGG CCCCTCAAAGTGCTAGGATGGCTACACCACATTTCTTCTACCTGTTTATC AGTTGATGGACATTGTTGCTTGCATTTTTTTTGTTTCCATCAGTTGAGGG ATTGTTTCTATTTTTTGGCTGTTATGAATAATGCTGCCATAATGGGCATG GTGTCTGGCACCTGTAATCCTAGCTTCTTGGGAGGCTGAGGCGGGAGGAT CACTTGAGCCTAGGAGACTGAGGCTGCAGTTTGCTATGACTGTGCCACTA TACTCCAGCCTGGGCAACAGAGCAAGACACTGTCTTTTAAAACTTGGGGT AGCGGGGAGGGCGTAGATAATGCCATTGTAAACATTGTGTATATATATAT ATTTTCTGTGGCTGTGTATTTTCAGTTCTTTTGTATATGTATCATATCCT ATGTTTCCATATATTCTAGGGTTTTTTATTAGGTCCTCTCTCTGTTCCAC TGATTTGATTGTTGATCACTATTTCACTACCCAGCATTTTAATTATTGGA ACTTTATATTGTTTGATAATGCTAGTGGTCCCTGTTTCTGTTCTTTTATT TTTTTTAAGAAAAAATGTGGCAATTCTGTCTTTTTTTTTTTTTTTTTTTA GTTCAGCTTCTGCAGGAATATTTGGCTCTTCAGTTGAACTTTAACATCAT TTTTAGGGGCCCCCCTCTCTCCAAAAATAATTCTTTTGAGATTTTCACTG GGTTCATTTTTTAGTTTTTAATTTCAAATTTTAAATGTTTTTCTAAATGT GATTCTAAATTAGCTTTTTATATTCATTACTGAAACACATTTCTACATTA ACATGAAATTTTATTAACATATTGAGACTCAAGAGAAGAATTAAGCACCT TATTGATTTTTCCTCTTTTCTTTTTTTAGAAACAGGGCCTCACTCTCTCA CCAAGGCAAGAGTGTGGTAGCATGATCTCAGCTCCTGCCACCTGTGCCTC TTGGCCTCAGGTGATCCTCCCACCTCAGCCTCCTAAGTATTAATAATTGG GATCATAGGCGTGCGCCACCATACCCAACTAATTTTTGTATATTTTGTAG AGATGGGGTCTTGCCATGTTGCCCAGACTGGTCTTGAACTCCTGGTCTCA AGCGATACATCTGCTTTGGCCTCCCAAAGCTTTGAGATTACAGGTGTGAT TCACCGCACCTGGCCCGATTTTTCCTCTTATCTAGAAGAATATAAAGATT TTCTCTATAATTTTTCTGTTATTAAAAACTTTGTTTGGTGGCTTATGTTT GTAATCCCAGCACTTTGGGAAGCTGAGGTGGGTGGATCACTTGAGCCCAG GAATTTGAGACCAGCCTGGGCAACATGGTGAGACTCCATCTTTACCAAAA AAAAAAAAAAAAGCAAGAAAACTGGTCATGGTGCCACAGGCCTGCAGTCC CAGCTACATGCAGACTGCTTGAGCCCAGGAGGTCTAGGCTTCAGTGAGCC ATGATTGCACTACTGCACTCCAGCCTGGGTGACAGAGTGAGACACTGTCT CAAAAAAAAAAACAAAAAAAACAACCAAAACCCAGCAAAACCTTTGTGGT GCCGGGCATAGTGGCTCATGCCTGTAATCCTAGCACTTGGGAGGTCGGGG TGGACAGATCG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	278	0.0036	-2710	c.331 others(15): Show c.331+525_332-620del	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	4/15			INFO_REALIGN_3_PRIME	chr1	TogoVar
CFAP92_chr3_128904873_128999076	128953526	AAGAAAGA others(2701): Show AAGAAAGAGGGATAATCACTCGCTTAAGAAGCAGCAACACGGTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCCCCCTCTCCCTCTCCCTCTCCCTCCC TCTCCGTCTCCCTCTCCCCACGGTCTCCCTCTCATGCGGAGCCGAAGCTG GACTGTACTGCTGCCATCTCGGCTCACTGCAACCTCCCTGCCTGATTCTC CTGCCTCAGCCTGCCGAGTGCCTGCGATTGCAGGCACGCGCCACCACGCC TGACTGGTTTTGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCCGGTCT CCAGCCCCTAACCGCGAGTGATCCGCCACCCTCGGCCTCCCGAGGTGCCG GGATTGCAGACGGAGTCTCGTTCACTCAGTGCTCAATGGTGCCCAGGCTG GAGTGCAGTGGCGTGATCTCGGCTCACTACAACCTCCACCTCCCAGCCGC CTGCCTTGGCCTCCCAAAGTGCCGAGATTGCAGCCTCTGCCCGGCCGCCA CCCCGTCTGGGAAGTGAGGAGTGTCTCTGCCTGGCCGCCCATCGTCTGGG ATGTGAGGAGCCCCTCTGCCCGGCCGCCCAGTCTGGGAAGTGAGGAGCGT CTCCGCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCGCCTCTTCCCAG CCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCG TCTGAGATGTGGGGAGCGCCTCTGCCCCACCGCCCCATCTGGGATGTGAG GAGCGCCTCTGCCCGGCCGAGACCCCGTCTGGGAGGTGAGGAGCGTCTCT GCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAACCAC CCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCTGCCCCGTCTGAG AAGTGAGGAGCCTCTCCGCCCAGCAGCCACCCCATCTGGGAAGTGAGGAG CATCTCCGCCCGGCAGCCACCCTGTCCGGGAGGGAGGTGAGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGTCAGC CCCCCGCCCGGCCAGCCGTGCCATCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCGGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGAGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC GGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGCGGTCAG CCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCACCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGCGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGC CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCTGCCCCGTCCGCGAGGGAGGTGGGG GGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGACCGGC CAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGCCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCAGCCACCACCCCGTCTGGGAGGTGTG CCCAACAGCTCATTGAGAACGGGCCAGGATGACAATGGCGGCTTTGTGGA ATAGAAAGGCGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTGCC GTGTCTGTGTAGAAAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGC ACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTTGATCTGTGACCTTACC CCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAAT GGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCA GCATGCTCGTTAAGAGTCATCACCAATCCCTAATCTCAAGTAATCAGGGA CACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGA CCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCATG ACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATTATCAATAAAA AAATAAATTAAAAAAAAAAATAAAAAAAAAATAAAAAAATAAAAAAAAAA AAAGAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp1 HG01167.hp2 others(32): Show HG00735.hp1 HG00738.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG02055.hp2 HG02056.hp2 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02895.hp2 HG02922.hp2 HG02970.hp2 HG03195.hp2 HG03209.hp2 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18950.hp2 NA18985.hp2 NA19030.hp2 NA19063.hp1 NA19066.hp2 NA19091.hp2 NA20129.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0002 a0010c0008 a0001c0001 a0002c0002 a0010c0008	a0001c0001t0001 a0002c0002t0002 a0010c0008t0001 a0001c0001t0001 a0002c0002t0002 a0010c0008t0001	a0001c0001t0001g0007 a0001c0001t0001g0299 a0001c0001t0001g0304 others(30): Show a0001c0001t0001g0007 a0001c0001t0001g0299 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0322 a0001c0001t0001g0325 a0002c0002t0002g0008 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0303 a0002c0002t0002g0311 a0002c0002t0002g0312 a0002c0002t0002g0313 a0002c0002t0002g0314 a0002c0002t0002g0315 a0002c0002t0002g0316 a0002c0002t0002g0317 a0002c0002t0002g0318 a0002c0002t0002g0319 a0002c0002t0002g0320 a0002c0002t0002g0321 a0002c0002t0002g0323 a0002c0002t0002g0324 a0002c0002t0002g0326 a0010c0008t0001g0048	35	340	0.1029	-2708	c.135 others(19): Show c.1353+9277_1354-7552del	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	9/15				chr3	TogoVar
DNAJC8_chr1_28195278_28238029	28224834	ATATTGCG others(2701): Show ATATTGCGCCACTGCACTCCAGTCTGGGCAGTGGAGTGAGACTCTGTCAC GAAACAAACAAACAAACCAAAGAGCCAAACACAGTGGCTCACACCTTGAA TCCCAGTATTTTGAAAATCTGAGGTAGGAGGATCAATTGAGCCCAGAGCC CAGGAGTTCGAGGTTGCAGTGAGCTATACAGTGAGCGGAGTGATAGAGAG GCCCTGAAAAACACCTTTTTGGGACAATTAGTAAAACCTGAATGGGGTCT GATGATTATATAGTAACAATGTATCCAGAGAGGCCCTGAGAAAGACTTTT TTGGGACAATTAGTAAAATTTGAATGGGGTCTGATGATTTACATAGTAAC AATGTATCAGGGTTCATTTCCTGATTTTGATAGTTTATATTGTGGTTCAG TAAGAGGATATTTGTAGAAAAATCACATTAAAGTATATCAGGGTGATGGA CCATCATACTAACAATTTACTCTTAAAGAGTTCAAGGAAAAGTCTTCATA TTGTATTTGAAATATTTGTTAATCTGAGATTATTTATAAATGAAAAAATT CTTGAAAAATTACTCTTCAAAAAACAGAAAACAGATGAACCTTGAAAATA TCATGCTAAGTGAAATAAGCCAGACACAAAGTAACAAATACGGTACCATT CCACTTACACGGGTTTCCTAGAAGAGGCAAATTCATAGACAAAGTAGAGT AGAGGTTACCAGGGGTCAGGGAGAAAATGAGGAGTTACTGTTTAGTGGAT ACAGAGTTTCTGGTTGGGGTGACGAAAAATTTCTGAATATGAACAGTGGT GATGGTTACACAACACTGTGAATGTACTTAATGCCACTGAATTGTAAAAC TAAAAAAAAATTTAAATGGTAATTTTTTTTTTTTTTTTTGAGACAGTCTC GTTCTGTCGCCCAGGCTGGAGTACAGTAGCACAATCTCGGCTCACTGCAA CCTCCGCCTCCTGGGTTTAAGTGATTCTTGGGCCTTAGCCTCCCAAGTAG CTGAGATTACAGGCATGCACCACCATGCCCAGCAATGTTTGTATTATTTT TGTGGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGG CCTAAAGTGATCCTCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGC GTGAGCCACCACACCTGGCCAAAATGGCAAATTTTATGTTATATATATTT TTCCACAATAAAAAAAAGTGAGGGGAGTTTTTTTCTAAGTGCCCAATAAG TGTTGTTTCTATTATTTAACAGATACAAAAATATTCACTTCAAAATTATT TGTAAATGTGAACAATTAGAAAGTAGTTTAGGGAGTCTCTCTGAACCTAT TCTGGTTCAGAGGGCCGCCTGTTAAAAAAACTTTTTAAAGATCTGGGTGT GGTGGCTCACGTCTGTAATCACGGCACTTTGAGAGGCCGAGGCAGGCAGA TCACAAGGTCAGGAGTTTGAGAAAAGCCTGGCCAATATGGTGAAACCCAT CTCTACAAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGG CAGAGGTTGCGGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGA CAGAGACTCCATCTCAAAAAAAAAAATTTTAGAAAGAAATAAACTAGCTA AACTATTCCACAATAAAGAAATGATTAAATAAATTATATGGAATTTTTTT TACCCCCCAGTCTATTATTTTATAACCAGTTCATAAAAAGTTTCTTGGGG GGTGACATATTACTTACACATCTATTGTGTAGTAAACATGTATGTATATG TGTGTGTACCCAACTACTTTGTTGGAGTGATTGCTGTGGTTTGGAACTGC TGGGGCCAAATTTATGCACAAATCTACATTTTTGAGTAAACTCCTCATGA CTAGAGTAAGTTTCCTCAGTATTTGAGAATTCTTCATTTTCTAAAGCTGT ACCAACATCAGATATCAATATTTGTAAGCACAAATAATGTAATTTATAAT AAAATTGCTTTCTCAACTATTAGTATTAACTATATATCATCTTCATATAG CCTTATAACTCATTTGTACTATTCCATTTTCCTCTGTTCCTTTTATTTTC ACTTTCCGTGTAATGTTAGTCTGTACTGAGTTCTGAAGAGTTCATTTATG ATTAAAGATGTTAACAGATTTAACATCTTGTCAAGCATTGCAAAAAAAAA AAAAGAATTTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTGGACAGG CGCGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCCGCGACAGGT GGATCGCCTGAGCTCAGGAGTTCGAGACCAACCTGAACAATATGGCAAAA CCCCGTCTCTACTAAAAATACAAAAATTAGCCAAGCATGGAGGCAGGCAC CTGTAATCTCAGCTACTCGGGAGGCTGAGGCAAGAGAAACACTTGAATCT GGGAGGCGGAGGTGCAGTGAGCCAAGATTGCACCATTACACTCCAGCTTA GGTGACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAGCATTTAA AACAGCACTGAGGCTGGACATGGTGGCGAATGGCTGTAATCCTAGCACTA TGGGAGCCCAAGGTGGGCAAATCGTTTGAACCCAGGAGTTCAAGGGTGCA GTAAGCCAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01109.hp1 HG01123.hp1 others(4): Show HG00323.hp2 HG01109.hp1 HG01123.hp1 HG02818.hp2 HG02970.hp2 HG03927.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0108 others(2): Show a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110	7	248	0.0282	-2708	c.180 others(17): Show c.180+1380_180+4087del	DNAJC8	ENSG00000126698.11	transcript	ENST00000263697.6	protein_coding	2/8				chr1	TogoVar
CDK5RAP2_chr9_120383875_120585167	120494746	TAAGAATC others(2699): Show TAAGAATCATCAGGCGGCGCCGGAGGCCCCAGAAGGGTCGAAGGCGCCGC GGGCTGGGGTCGGTGGCTTAGGGAGCCCGTCTGGCCATGGTGGCCGCGGC TGGTGGTTGGCGCGGCTGCGCTGCGGCCCGGGGCAGTGCGGAGCCAGGAC AGTCGCGGCGCTGACGCCCGCGGGCCCCAGCTGCAGATATGAAGCGGAGC CGCTGCCGCGACCGACCGCAGCCGCCGCCGCCCGACCGCCGGGAGGATGG AGTTCAGCGGGCAGCGGAGCTGTCTCAGTCTTTGCCGCCGCGCCGGCGAG CGCCGCCCGGGAGGCAGCGGCTGGAGGAGCGGACGGGCCCCGCGGGGCCC GAGGGCAAGGAGCAGCCGCCTGCCTTGGCCTCCCAAAGTGCCGAGATTGC AGCCTCTGCCCGGCTGCCACCCCGTCTGGGAAGTGAGGAGTGTCTCTGCC TGGCCGCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAG TCTGGAAAGTGAGGAGCGTCTCCGCCCGGCCGCCATCCCATCTAGGAAGT GAGGAGCGCCTCTTCCCAGCCGCCATCACATCTAGGAAGTGAGGAGCGTC TCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCC GCCCCATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGAGACCCCGTCTG GGAGGTGAGGAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGA CCCTCTGCCTGGCAACCACCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCC GGCAGCTGCCCCATCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACC CCATCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGA GGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGG AGGGAGGTGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGTGCCATCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGCCATCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC AGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCC CACCCGGCCAGCCGCCCCGTCCGGTAGGGAGGTAGGGGGGTCAGCCCCCC GCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCG CCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCAGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGG AGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCC CCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGTCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCTGCCCGGCCAGCCGCCCCGTTCGGGAGGGAGGTTGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGTCA GCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAGGTGGGGAGCCCCTCTGCCCGGCCACCACC CTGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACGGGCCAGGATGACA ATGGCGGCTTTGTGGAATGGAAAGGCGGGAAAGGTGGGGAAAAGATTGAG AAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTAGACATGGGAGACT TTTCATTTTGTTCTGCACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTT GATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGT CCACTCAGGGTTGAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAA CAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCACCACCACTCCCTAAT CTCAAGTAATCAGGGACACAAACACTGTGGAAGGCCGCAGGGTCCTCTGC CTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCT CCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCA AGAATTATCAATAAAAAAATAAATTTAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00621.hp2 others(95): Show HG00408.hp2 HG00544.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp1 HG01243.hp2 HG01255.hp1 HG01358.hp1 HG01516.hp1 HG01891.hp1 HG01978.hp1 HG02004.hp2 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03927.hp1 HG04204.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18950.hp1 NA18954.hp1 NA18955.hp1 NA18962.hp1 NA18966.hp2 NA18969.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18985.hp2 NA19002.hp2 NA19007.hp2 NA19012.hp2 NA19057.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19080.hp1 NA19082.hp1 NA19083.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0015 a0017 a0018 a0019 a0022	a0001c0001 a0001c0016 a0002c0002 others(19): Show a0001c0001 a0001c0016 a0002c0002 a0002c0032 a0003c0003 a0004c0004 a0005c0009 a0005c0031 a0005c0034 a0006c0005 a0007c0006 a0008c0008 a0009c0011 a0010c0012 a0012c0014 a0013c0029 a0014c0030 a0015c0015 a0017c0028 a0018c0027 a0019c0013 a0022c0036	a0001c0001t0001 a0001c0001t0006 a0001c0016t0001 others(23): Show a0001c0001t0001 a0001c0001t0006 a0001c0016t0001 a0002c0002t0001 a0002c0032t0003 a0003c0003t0001 a0004c0004t0001 a0005c0009t0001 a0005c0031t0001 a0005c0034t0001 a0006c0005t0001 a0006c0005t0007 a0007c0006t0001 a0007c0006t0002 a0008c0008t0001 a0009c0011t0001 a0009c0011t0003 a0010c0012t0001 a0012c0014t0001 a0013c0029t0002 a0014c0030t0001 a0015c0015t0001 a0017c0028t0002 a0018c0027t0001 a0019c0013t0001 a0022c0036t0001	a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0078 others(95): Show a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0102 a0001c0001t0001g0132 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0209 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0006g0098 a0001c0016t0001g0159 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0053 a0002c0002t0001g0060 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0165 a0002c0002t0001g0219 a0002c0032t0003g0224 a0003c0003t0001g0170 a0004c0004t0001g0005 a0004c0004t0001g0007 a0004c0004t0001g0067 a0004c0004t0001g0068 a0004c0004t0001g0069 a0004c0004t0001g0071 a0004c0004t0001g0073 a0004c0004t0001g0074 a0004c0004t0001g0075 a0004c0004t0001g0077 a0005c0009t0001g0052 a0005c0009t0001g0054 a0005c0009t0001g0055 a0005c0009t0001g0066 a0005c0031t0001g0223 a0005c0034t0001g0045 a0006c0005t0001g0004 a0006c0005t0001g0185 a0006c0005t0001g0186 a0006c0005t0001g0212 a0006c0005t0007g0095 a0007c0006t0001g0009 a0007c0006t0001g0013 a0007c0006t0001g0014 a0007c0006t0001g0206 a0007c0006t0001g0207 a0007c0006t0002g0230 a0007c0006t0002g0232 a0008c0008t0001g0058 a0008c0008t0001g0059 a0008c0008t0001g0061 a0008c0008t0001g0062 a0009c0011t0001g0169 a0009c0011t0003g0225 a0009c0011t0003g0226 a0010c0012t0001g0002 a0012c0014t0001g0051 a0013c0029t0002g0228 a0014c0030t0001g0057 a0015c0015t0001g0006 a0017c0028t0002g0229 a0018c0027t0001g0213 a0019c0013t0001g0003 a0022c0036t0001g0030	98	230	0.4261	-2706	c.131 others(19): Show c.1312-5975_1312-3270del	CDK5RAP2	ENSG00000136861.19	transcript	ENST00000349780.9	protein_coding	12/37				chr9	TogoVar
TRIM13_chr13_49992042_50023467	50004907	CTCTACTA others(2698): Show CTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAA TCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGG CAGAGGTTGCAGTGAGCCGAGATGGTGCCATTGCACTCCAGCCTGGGTAA CAAGAGCGAGACTCCCTCTCAAAAGAAAAAAAAACAACCAGAAACCCCGA AAAAGAGGTGGAGGGGATGTATCCTTTTTTGTTCATGTCAAAGGAGTAAG CTGGGTTGATTACTTCAGATTTTGTGTTAGCCATACTTTAAGATTTTGTA AGTTATTTTGCTGTGAAGAGTACCTTTTATTTATGATATTAAAGGCTTTA ACTTAAATTATCCTTCAAAACTTTGGAGGCAACAAAGATGTCTACCATGG TTTCTTGGATCAGGTATTAGTCACTTGTGGAAGTGGTCACATAGTTTTGT CTTAGAGAAAGTTTTGATTATAAAGAGAAGGCATAGGCAGGGCATGGTGG CTCACAACTATAATCCCAGAACTTTGGGAGGCCGAGGCGGGTGGATCACC TGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATGGCGAAACCCTGTCT CTACTAAAAATACAAAAATTAGCCTGGCATGGTTGTAGGCGCGTGTAATC CCAGCTACTCGGGGAGACTAAGGCAGGAGAATCACTTGAACCCAGGAGGC GGAGGTTGCAGTGAGTTGTGATTACACCACTGCACTCCAGCATGGGCAAC AGTGCAAGACTCCATCTCTAAAAAAAAAAGAGAGAAGGCATAAAACTAAA GGAAGAAAGGAAGAAGAGAAAAGGAAATATTTAGTTTTTTTTTTTTTTTT GTGATGGAGTTTCACTCTTGTGCGATCATGGCTCACGGCAACCTCTGGCC TCACGGGTTCAAGCGATTCTCCTGCCTCTGCCTCCTGAGTAGCTGGGATT ACAGGCATGCGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACG GGGTTTCTCCATGTGGGCCAGGCTGGTCTCGAACTCCCGACCTCATCTGC CCACCTCGGCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAACCACCGC GCTTGGCCAGAAATATGTAGATTTTAAAGTGAATGAAAATAAGAATCTTT AAATTATCAACCAAAATTTGTAAGTTAAGTCACTAAAAATGAAATTAGAG GATCTATTGTAATTTTGATGCAATTTTTTTGAAGATACTTTCCAAATAGT ATTTTTTCCCCTCTGGTTCATTTTAAGAGCTGTATGTTGATCATGACCTT GGGATGACTGTTTATTATTTCTAAGTTTTCCTGTGTGTGACATTTTCCTT TTCACTTTTGATCACATTTGTTTGCCTGAAAATTCTTCTTGGCCCCTGTC GTTGTATCCTCAATTTTCTTCATAGTTTCTCTTTGCCTTTGGTGCCCTTT TTCTCCTCCTCATCCCACCCAATCACTTGGTATATTCTTTGTTTTCTTCT TATTTAATATGCTTGGATAGTATTCTCTGGAAGTATTAACATTGCAAGGA TGAGTAAATTAGGTTTCTTTTATTGAGTGTTGCCCTTACCACTTTCCTGT TTCTATTGCCTTCTCAAAAATCTGGCCTTTGTGTAGAATTCTTAGGCAAA AGATGATAGTAATGGAAGTGAAAAGTGTGGAGCAGGACTGGGGTTGGCAG ATCATCAAAAGTTTGACTTCATTGTTCTGAAAGTTTGTGTGTCTTACAGC TGTGTGGTAATCTCTTTCAGAAGACAAACTAAGTTGAGTCTTTATAGCCA TTCTCTTTCCAATGCTTTTCAGAGGTTATATGATTTGTCATATCACAAAG GATTTTTCAGAAAAATCAGCTAATTACACCTTTTTTTGCAATATGACACT AAATTTGAGACAGAATAATCTTTGCTTTAGTTCTCCCTATGTTATGTATT ATAAATACATGTATCTTACAATCTACTATAAAACCATAAACTGGCTGGGC GTGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGTGGGCG GATCACCCGAGGTCAGGAGGTTGAGACCAGCCTGGGCAACATGGTGAAAC CCTGTCTCCAGCAAAAAATACAAAAGTTAGCTGGGCATGGTGGTGGGCGC CTGTAGTTCCCAGCTACTCAGGAGGCTGAGGCAGAGGAACCGCTTGAACC CGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCC TGGGTGACGAAGTGAGACTCTGTCTCAAAAAAAAAAAAACCCAAAAAAAT AGGGCCCAGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCT GAGGCAGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGTCCAAGAT GGTGAAACCCCGTGTCTATTAAAAATACAACAAAATTAGCCGGGCGTGGT GGCCGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTG CTTGAACCTGGGCAGCAGAGATTGCAGTGAGCCGAGATTGCACCACTGCA CCCCAGCCTGGGCAACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAACG CCAGGCACGGTGGCTCACCCCTGTAATCCCAGCAGTTTGGGAGGCGGGTG GATTGCCTGGGGTCAGGAGTTTGAGACCAGCTTGGCCAACATGGTGAAAC CCCGTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02896.hp1 HG02897.hp1 HG02257.hp2 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0039 a0001c0003t0071 a0001c0003t0116 a0001c0003t0039 a0001c0003t0071 a0001c0003t0116	a0001c0003t0039g0179 a0001c0003t0071g0047 a0001c0003t0116g0047 a0001c0003t0039g0179 a0001c0003t0071g0047 a0001c0003t0116g0047	3	388	0.0077	-2705	c.-6- others(15): Show c.-6-7003_-6-4299del	TRIM13	ENSG00000204977.10	transcript	ENST00000378182.4	protein_coding	1/1			INFO_REALIGN_3_PRIME	chr13	TogoVar
AXDND1_chr1_179360971_179559735	179486459	AAATTCAG others(2695): Show AAATTCAGGAAATGCAGAGAGCCCCTGAAAAATACTACAAAATAAGACCA TACATGAGACACATAGTCATCAGATTCTCCAAGGTTGAAATGAAAGAAAA AATGTTAAAGGCAGGTAGAGAGAAGGGGCAGGTCACCTGCAAAGCAAACT CCATAAGGCTAACAGCAGACATGTCAGCAGAAATCCTACAAGCCAAAAGA AATTGTGGGCTTATGTTCAGCATTCTTAGAAAAGAAATTCCAAACAAGAA CTTCATATCTAGCCAAACTGAGCTTCATAAGCAAAGGAGAAATGAGATCC TTTTTAGACAAACAAATGCTGAGGGAATTTTTTGTGACCAGATGTGCCTT ACAGGAGGTCCTGAAGAGAGTGCTAAATATGGAAAAGAAAGACCATTACC AGCCACGACAAATACACACTTGGGTATTTAGACTACTATAAAGCAACCAA ACAAGTCTGCATAGTAGCCAGCTAACAACATGATGACAGGATCAAATCCA CACATATCAATACTAACCTTGAACATAAATGGGCTAAATGCCCCAATTAA AAGGCACAGAGTGGCAAGTTGGATAAAGAAACAAAACCTAATAGTTTGCT GTCTTCAAGAGACCTGTCTCACATGCAGTGACACCCAAAGTCTCCAAGTA AAAGGATGGAGAAAAATCTACCAAGCAAATGGAAAACTGTAAAAACAAGA GTTGCTATTCTAATTTCAGAAAAAACAGACATTTATTTTCCCTCCTGATC CATGTTCTTATCTCCAGTTTTTTTGTCATTGTTTTTCCTTTGCCTCCTTA CTTCATTTTACCTGTGCTGCTTGGCTGTCTAAAACACTGGCCACTAAACG TTTTTTATTATGTACCTCCATTAGCAAAAAGTCTTTGAGCAAGCCTTTCT AACTTACTATTTCTGATTTGCATGCAAAAATTACTCAGTTGACATGTTTG GTACATTATAAAACATATACAGAAAGCCAAATGTATGAAATTAACAATAT TTAAAAATGATTTTTGGTAATGGTTCAAAAAACTGATTGAAAAGCTTCAT GATTTTTTATAATTGCAGGTTTAAATTGCAGATTAAACTTGTGATTATAA AGCTATTTGAAGGTCTGCTTCTAAATTCAGTTTCCTTCAATACTAATTTT TAATGGCAGTCACTGCTGAAATGATAGCTCAGAAAGAAACATGAATCCAA ATTGAAGAAATACATCATTAGAATGATAATATTCACTTTTCATTTCCATC AATCAGGCCAGGCGTGATGGCTCATGCCTGTAACTCGACACTTTGTAAGG CCAAGGTGGGAGGATTGCTTTAAGCCCAGGAATTTAAGACCAACCTGGTC AACACAGTGAGAACTCATCTCTACAAAAAATAAAACAATTAGCCGGGCAT GGTGGCACACACCTATAGTCCCAACTACTTGGGAGGCTGAGGTGAGAGGA TCTCTTGTGCCTGGGAGGTCAAGGATGCACTAAACTATGATTGTGCCACT GCACTCCAGCCTGTGAAACAGAGTGAGACCATGTCTCAAAAAAAAAAAAA AAAAAAAGAGAAATTTCAATTCCGTCAATCAGTTATGCAAAGGTTTTTTT TAAATTAACTAGTAATTTTTTCCATCTATCATAATGTCAATCAGTTGTTC TTACAGTTGTCTAAAACATTAGACAGTGTAGCATTCCTATATTTTAACAA AGTGTTCCCAGCCAATTGAAATGCTTTATTTCTAAGATTTTTAAAAAGAT TAGAAACATACTTCCAGATTTTATATATATGTAGATTTTAGACTTTTAAA AGGTGAGCTGTGTTTCATTTTTAGCAACAAACTCACACCAAGATGGAAAT ATTTCCTCCTATTCATTTTCAAAACAACCTCTCCATAGTATAAGTTTCTT TTGCTCATTGTTAAATTTCACATATATTTGAAAGGGACAAATTAAGTATG TGTGTGGTTTTTTTTGTTTGTTTGTTTGGTTGGTTTTTATAGAGATGGGG TTTCACCAAATTGCCCAGGCTGGTCTTGAACTCTTGAGCTCAGGCAATCC TCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATA CCTGGCCTGATCTATCTTTCTTTCTCTCTCTCTTTCTTTCTTTCTTTTTC TTTCTTTCTTTCTCTCTCTCTCTCTCCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTCTCTCTG TCTCTCTCTCTCTTTCTTTCTCTCTCTCTCTTTCTTTTTTTTTTGAAATG GAGTCTCGCTCTGTCACCCAGGCTGGACTGCAGTGGCACGTTCTCAGCTC ACTGCAACCTCTGCCTCCTGGATTCAAGTGATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGAATTACAGGCGCGTGCCACCACACCAGGCCAATTTTTGT ATTTTTAGTAGAGACCAGGTTTCACCATCTTGGCCAGGCTGGTCTTGAAC TCCTGACCTCATGATCCACCTGTCTCGGCCTCCCAAAGTGCTGGGATTAC AGGTGTGAGCTACCACACCTGGCACATTTATTTCTTAATATCAGCTAAGA AGTGGCTAATTACTCACTTGTTATCCCTGAAAAGATTAGTAAATTTGGAA GAAGTCTTTTCACAAAAGAAAAGCAGTCAATTCATCTTAAAATGTCTTTT AAG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01071.hp2 others(21): Show HG00735.hp1 HG00741.hp1 HG01071.hp2 HG01109.hp2 HG01175.hp1 HG01884.hp2 HG01978.hp2 HG02145.hp2 HG02486.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 NA19030.hp2 NA19043.hp1 NA21309.hp2	a0003 a0006 a0008 others(4): Show a0003 a0006 a0008 a0009 a0010 a0020 a0024	a0003c0004 a0006c0009 a0008c0012 others(4): Show a0003c0004 a0006c0009 a0008c0012 a0009c0013 a0010c0016 a0020c0030 a0024c0034	a0003c0004t0001 a0006c0009t0001 a0008c0012t0001 others(4): Show a0003c0004t0001 a0006c0009t0001 a0008c0012t0001 a0009c0013t0001 a0010c0016t0001 a0020c0030t0001 a0024c0034t0001	a0003c0004t0001g0173 a0003c0004t0001g0176 a0003c0004t0001g0177 others(21): Show a0003c0004t0001g0173 a0003c0004t0001g0176 a0003c0004t0001g0177 a0003c0004t0001g0178 a0003c0004t0001g0179 a0003c0004t0001g0180 a0003c0004t0001g0183 a0006c0009t0001g0175 a0006c0009t0001g0191 a0006c0009t0001g0192 a0006c0009t0001g0193 a0006c0009t0001g0194 a0006c0009t0001g0195 a0006c0009t0001g0196 a0008c0012t0001g0168 a0008c0012t0001g0169 a0008c0012t0001g0170 a0008c0012t0001g0171 a0008c0012t0001g0172 a0009c0013t0001g0097 a0009c0013t0001g0098 a0010c0016t0001g0167 a0020c0030t0001g0181 a0024c0034t0001g0174	24	354	0.0678	-2702	c.209 others(19): Show c.2091+3243_2092-2373del	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25			INFO_REALIGN_3_PRIME	chr1	TogoVar
PKNOX2_chr11_125159751_125438389	125194240	GCAGTCAT others(2695): Show GCAGTCATCCCTTGCTAAGAGCAGTTGGCATCCCCTTCCCCACCCCAGGC CGGCTCCCATTGCGGCCTTTCTTGAGAGCAATAATCCTCTCCTGGTCTTT GCTGATGCTTCTCATCAGAAGATAACACAGCGAGTCTTTTCAGGGTCTCC TGAGAACCTAGAAGATATTGAGCAGGTGCTGGGGGATTCACAGGCAAGGA GGTTTGTAGCTCCCAGTCCCCCACCCCCACCCTGCTTCACAGGAGGGTCC TCACCCTGTGTCCTCACAGCAGGACCCTTATAGCTGGGGAACTTGGCCCT CCTGCCCCCGAGTTGGGATCACACTGGCTGACAGAGAGGGGCACTCAGCC TCTCCTGGGGTTTTGGTGAGCCCCTCACTGCAGAGGACCCCAAAGGCCCA CTCTTGCTTCAATGTCCCTTAGGCCTCATCCCTCCTTTTAAACTGCTTGC TGCTGCAGTGCTCCCACTTGGATATTTTGCCACGAATGTAAAATGTCATG AGTTAAAACAGACTCATTCAACGCATTTTTAGTGATGGGAAAGATGCTGC CGTCCATTGAGCACCTACTATATGCCAGGCTGCAGGCAAGGTGCTGTGTA TGCTCCAGCTAATTTAATTCTCACCACAAACCCTCCAGATAATAATAACT AACCTGTATGCAGCACTTCCAACATGCCAGTCATGACTTTGAGCTCTTTA TGTAGGTCCTACCTTCCTGACGCTCTTAGGAGGCGGGCTCTATTGTTATC CTCTTTTGTATTATGGACGGGAAAATGGAGGCATGGAACGCTTAAGGAAC CCATCCAACATCACACAACCAGGAGTTTGGGAAGATGGGACTAGCACCCA GGGAGTCTGTTTCCATGTCTGAACTCTTAACCACTCCACAAGAAACATGG CTTCTTCAAGGAGGGCATTCATTATGACCGTGTTTTAATTGTACCCCACC TAAACTTACCTTTAGATATAAACACTGATTCTCAGCCTAGAAAGAAGCTG AGCCAGAATTTGAACCCAGGCTGGTCTGCTTCAAAGCATCTGGTCTTTCT GTTGTGCCTTTATCCTCTTGCTTACTCGTTCAAGACACGTGCTTTTCCTA CCCTCAGTTCATAATCTTTTAAGTAAGTAGGTGATATTATAAAACGAAAA GTTTTTAGGAACATGAGGATGGCTTGGAGCTGGGAGGCCTGGGAAGCAGG AGGAGGGGTGAAGACTTTCAGCAGTCGGCAGTGAGTGGGGAGGCGGGGAG GTCTTGGGGACGGTCGAGGGTCCTGGTTTGTGTGGAGGCCAAAAGAGGAG AGGTTTGAGAGCTGTTCTGAAGAACCGAAAGAACTGGTGATGGAGTAGGT ATTGGAAATCTGGTTCAGGGGGAAATCTACACCCTGAAGACTCGGTGAGC TGACACACTACTCATGAAAATGAGAGTGAAGTTCTTGTGGGGCAAGGGTC TCCTTTTTACAACACTGAGTTTGAGATGCCAGGGAAATGGCCAGTGGGGC AGTCCCATCGGCAGATGGCAATGCCTGATAATTTCTCCAACTCCAACACT GGTTTTGAATGTCAGGGTTCTTAAAGTGTTTGTGCGATGGCCTCCTTGAG GATCTGATGAAATGATGAATTCTCTCCCAAGGAATATGTACATGCACACA CACACACACACACACACACACACACACACACACAATTCATTGACAATATC CCAGACACAGAAACTCCAGGTTAAGGACACTGGGTTTACAGCCTCAGGCC GGTCCCCTCCCCCACCACTTAGGTGGCCTCTGGGTCTGCTTGGGAAGCTG GGGAACCAGCATTCTGCATGGCTTGGCTCTGTCTTTAGGCATTGGGCATG GGGATCTGTGTCAAGATCCTTAGAGGGGCGACTTTTGCACACAAAGCATG GAGCTGGCAACAGTACAGGTGGGATTTCCTCTTGGATCCTGAGCCTGCAG GATTGTCAGCATGGTCATTTTCCCAGAGCTTGTGTATTCCCGTGGCACCC GAGAAGGGGCTGTGAGGTCTGTGCATCTTTTCTCTCAGTCACTGACTCTT GTGCGTGCTGACTGTGTCGGGGCTGGGCTGCACATTTTGCTGGTTTCTCT AGGGCTCCCTGAGGCGTATAGCTTAGGATAGGGCCTGAAACAAGGCCTGA GCCCGGGACACCGTCTTCTGTTGAGCCCACTTTCTGTCCCCATACACCAG ATCCCAAGTGGTTGGAAGCCTTTCCATCATGGGAGCTCCCAACATCCTCA CCAAGAAGCTTCATGCTGTGTGTTGCTAACCAGACTTTTATGGGACAAGG GTGGAAGGGCCACTGTCACAGAGAGTGCTGGTATTCAGAGGCAGTGCAGG GGAGGAGGAAGATCTGAGAGCCATGAAGCCAAACCTGGGTCAAACCCTGC TCCAATTTCACCTGTGGCCTTGGGCAAGCTGCCTCACCTCTCTGGCCCTG AATTTCCTCATCATTAGAACAAAGGCATTGGACTCGATCATGTCCAATAT CTCATCCTTGTTAATTTTCCATGATTCTAAGTATTGGTAGAGAACCACAG CTGTCCTGTAGTGGCTACAGGGAATGAAATATCCCTGATGATTAGTGAAG ATAAAAGGGTCCTCTCCTCATGAGCAGGGACCCTGGTGCTTTATACTTTG AGAAGAGGCCTTTGTAGTAGTGCCTGGTATGCGGGTATGAAGAAGGTACT TCC	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	1	220	0.0045	-2702	c.-20 others(21): Show c.-201+29466_-201+32167del	PKNOX2	ENSG00000165495.16	transcript	ENST00000298282.14	protein_coding	1/12			INFO_REALIGN_3_PRIME	chr11	TogoVar
TIAM2_chr6_154990315_155262723	155079863	GCTTGAAA others(2695): Show GCTTGAAACTGGGAGGCAGAGGTTGCAGTGAGACGAGACTGTGCCACTGC ACTCCAGCCTGGTTAATAGAGTGAGACCTTGTCTCAGAAACAAAAAACAA AAAACATAACCCCAAAAGTTTCTTATGTGGATTTGCTGCTTGGATCGTTC TGATGATGGTAAAATGAAACAGGAACAGCTCTCTGACCCCTGGAAACTCT CATGTGTTCCTTTCAACAAAATTCATTGATGAATCACAACCCAAAGTAGC CTTCTGTCAAGTGTTTTTCTCCCTTGCCAGAGAGGCACGTTATCCGCCCC GTGGCTGTCAGCTTTATCCTCCTTAGCATTGTTCAAAACCTTATCTCTGA TGTCCATACCGCTGACACAGGTATCACAAGGGCCTTCTCGGTGGGCTGGT GCCTCTTTATCTCCCTTGGACTGGTTGTCAGTGGGAGGAAATGAAAACAC TTACGGAGAGTGCTTAAGAGAGAATTTATTACAAAACTACATTTTGTGGG CAAGGTATATAACCACAGCTTTTCTTGTTCTGAGATATTTAGCTTTGGAC AGAAGTTTAGGTAAAGCAACATGGCATCCTTTTTTTTTTTTCTGGGAGAC AGAGTCTTGCTCTGTCCCCCAGGCTGGAGTACAGTGGCACAATCTCTGCT CACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCCCCTGCCTCAGCCTC CTGAGTAGCTAGGATTACAGGTGTGCGCCACCATGCCCAGCTAATTTTTG TATTTATAGTGGAGACGGGGTTTCACCATGTTGGCTGGTCTCGAACTCCT GACCTCATGATCCGCCCACCTCAGCCTCCCAGAGTGCTGGGATTATAGAC GTGAGCCACTGTGCCCAGCTGCAACGTGGCATCTTCAAGTGCCAGGTCAA AAATGGCGCCTTTTAAGTTACCCAGAAAGTACAGTTAGTATGTTGCTATA AAGTAGCTTTGGAAATAATGCTTCCCATCCTGACCAACATCCCCAGTCTT GGGATGAACCTGTGAGATATCCCCAGAGGGCAGCGTGACAGTTGAAGTAG ATCTTGAAATGAACCTTGCCTGGGATGAGCTCGATTCTTCTCTGGAGAGG TCTGTAGCACTCACTTTCTCAGCTAAGCTCATGCCTCTGAAATCATTGTT TCCTGGAGGTCCACAGTGAGGGGGCCAGTCAGGAAATATTTCTTTGTTTA GTGAATCGTTAGCTTTTGCTTTGTCTACAGGAAGGAAAAGTGTGACAGCT TTGAAAAAGAAAGAGGGTAAAATATTTTAACCACCCTTGGTGTCATTTGT GGCAGCCTATAGCATTAGAGCCTTTGAGAACAGATCTTTCCAGATTCTGC TTAAGTCCAGGGATTCTGTGACCGCAGAAATGACTGGCATCTCCATCTGC TCGTGCATCTGTTTGTTTCTTCCTTCATTGATTCACTCATTCCCCCCGCC CATGTACTTACAGTCATTCAACAATTATCTACTTTCAAGGCATTGGGAAA GGGATCATTGGTCACACTGTCTTTATTATAAATGAGTCTTCTGAAAAAAA AAAAAAGCCACAATGTATTTTTCCCATAACATGCCACTTTTCAGAAATTA TGTCTAGTCTTGGAATGAGGTAAAGTTACCGTTTGGAAAATGCACTTGGC TCAGTCAACTGAGCCCTGAGATAAAGCTAGGAGTCCCTGTCCAGCCATGG TTAACTTCTAGGAACCATTCACACAGAGCCCAGGCAGGCAGAGGCTCCCT GAAAGCCACTTATTCCACAGGTACTTGTTGAGGGCTGTTTAAGCCACAGT TCCATAGGGATGGCTCAGCCTCCGTGAAAGGTTTGAACACACTGCTTGAT ACAAAAGTGGTTGAGGAATTTGTTTGGTGCTTGCCCTTTCAAGTGATGTG TGAATGTTTCTTTCTTGTTGTCAGGTCAGTAAATCTCTCGTTTTTTTTAC CCCCTGACTTTCTCTTAAGGAGCACTTGAATCCCTCTTGTAGGGTAGCTG CTGCTTGCATTTTTGTTCTCGCTCAAGCCACCTTTTTCATCAGCTGTTGT GCCAATCTTCTGCCTCAGTAGTTATTCAGTGGTCCCCCATTTGGTTTTAT TTATTCACCTCTTTCATCCCTATCCTGCCTCAGTACTGAAAAGAAGCACT TTGCTCAATCTAAGGATGGGGTAAAGAAAAGGATAATATCGTACTAATAG GCCAGGCGCAGTCGCTTACACCTGTAATCCCAGCACTTTGGGAGGCCGAG GTGGGAGGATCACTTGAGACCAAAAATTCGAGACCAGCCTGGGTGACACA GTGAGACCTTGTCCCTACACAAAATAAAAAAATAGCCAGGTGTGGTGGTG CATACGTATAGTCTCAGCTACTCAGGAGGCTGAAGCGGGAGGATTGCTTA AGTCTGGGAGGGAGACGCTGCAGCAAGCCATGATCATGCCACTGCACTCC AGCCTGGGCAGCAGAGCAAGACCCTGTCTCTAAAAACTAGCTAACTAAAT AAAATAGGCCAGGCACTGTGGCTCACGCCTGTAATCCCAATACTTTGGGA GGCTGAGGTGGGTGGATTACCTGAGGTCGGGAGTTCAAGACCAGCTGGAC CAACATGGAGAAATCCTGTCTCTACTAAAAATACAAAATTAGCTGGGCGT GGTGGCACACACTTGTAATCTCAGCTACTCGGGAGGCTAAGGCAGGAGAA TCA	G G	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	228	0.0044	-2702	c.-20 others(20): Show c.-208-10419_-208-7718del	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26			INFO_REALIGN_3_PRIME	chr6	TogoVar
DLGAP2_chr8_732628_1713476	990795	AGACCCCC others(2693): Show AGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTT GCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCA CCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCT CCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTT CTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGT TCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTC CTGTTCTTCTCTCCCACCTTACCCGGACCCCCTGCACCCCCATACTCGGA GTTCCTGTTCTTCTCTCCCACCTTGCCCGGACCCCCTGCACCCCCATACT CGGAGTTCCTGTTCTTCTCTCCCCCCTTGCCCAGACCCCCTGCACCCCCA TACTCGGAGTTCCTGTTCTTCTCTCCCACCTTACCCGGACCCCCTGCACC CCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTG CACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCC CCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTACCCGG ACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGC CCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACC TTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCC CACCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCT CTCCCACCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTC TTCTCTCCCTCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCT GTTCTTCTCTCCCTCCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGT TCCTGTTCTTCTCTCCCACCTTACCCGGACCCCCTGCACCCCCATACTCG GAGTTCCTGTTCTTCTCTCCCCCCTTGCCCAGACCCCCTGCACCCCCATA CTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCAGACCCCCTGCACCCC CATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTACCCGGACCCCCTGCA CCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCCCCTTGCCCAGACCCCC TGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTACCCGGAC CCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCC AGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTT GCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCT CCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCT CCCACCTTACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTT CTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGT TCTTCTCTCCCACCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTC CTGTTCTTCTCTCCCACCTTGCCCGGACCCCCTGCACCCCCATACTCGGA GTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACT CGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCA TACTCGGAGTTCCTGTTCTTCTCTCCCACCTTACCCGGACCCCCTGCACC CCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCGGACCCCCTG CACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCTGGACCC CCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAG ACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGC CCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACC TTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCC CTCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCT CTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTC TTCTCTCCCTCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCT GTTCTTCTCTCCCTCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGT TCCTGTTCTTCTCTCCCTCCTTGCCCGGACCCCCTGCACCCCCATACTCG GAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATA CTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCC CATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTACCCGGACCCCCTGCA CCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCC TGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGAC CCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCT G	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0033 a0001c0003t0006g0033	1	32	0.0313	-2700	c.73+ others(17): Show c.73+82875_73+85574del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14			INFO_REALIGN_3_PRIME	chr8	TogoVar
RIPK1_chr6_3063494_3120187	3090743	TGCACCTA others(2690): 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 CCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGC CTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTA ACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTG CCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAG CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAG CGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTA GGAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTAC CTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCG CAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03516.hp1 HG03041.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0199 a0001c0001t0003g0032 a0001c0001t0003g0199	2	311	0.0064	-2697	c.915 others(17): Show c.915+1094_915+3790del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10			INFO_REALIGN_3_PRIME	chr6	TogoVar
BRSK2_chr11_1384934_1467689	1429577	TCAGCAGT others(2686): Show TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTG AGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGC GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTC TTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTC TGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC GGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGG GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCC AGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGC AGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGT GAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAG CGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGT CTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTC TTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTC TGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC GGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCG GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTG CCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCA CTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTG TGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGC TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTG AGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGC GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTC TTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTC TGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC GGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGT CTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTG GTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGG TCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTT TTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTG CCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCA CTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTG TGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGC TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCC	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	344	0.0029	-2693	c.92- others(15): Show c.92-6416_92-3724del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP6C_chr9_125141573_125194803	125185429	CACGCCTG others(2685): Show CACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGAAGGGTGGATCACCTG AGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCT ACTAAAAATACAAAAATTAGCCAGGAGTGGTGGTGGGTGCCTGTAATCCC AGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATCCGGGAGGCGGA GGTTGCAGTGAGCTGAGAACGTGCACCTGCACTCTAGCCTGGGCAACAGA GCAAGACTCCGTCTCAAAAAAACAAACTAACAGGCCAGGCTCACACCTAT AATCCCAGCACTTTGGGAGGCCGAGGTGGGTGCATCATCTGAGGTGAGGA GTTCGAGACCAGCCTGAACAACATGGGGAAACCTGGTCTCTACTAAAAAT ACAAAATTAACTGGGCGTGGTGGCACATGCCTGTAATCACAGCTACTCAG GAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGT GAGCCAAGCTCACGCCATTGCACTCCACCCTGAGCAACAAGAGCGAACAA ACAAACAAAAACAGTTATGTAGATTTGATCCAGTACTAGTGATGTGACCA TTTCCAACTTAGCGAAACAGAAATTGTGATTAAATCTGGAACATCGTATG CATTTAGTATTTTATCTTCTAATCAATTTAAAACACAAGTAAATTTCTGT CTTCTTTTCTACAGAACAAATCTTTTCCATCTTGCTCATTAAGTGGCCTC AATGATTACTTTTCTTAATAGAATGTTTTATTTTGCCTTTACAGCCTCAG AAAAAGTACTCCTGGCATACTTTCTTGGCCTAATTTTAGGTTGCACTTCA TGCCAAGAAACAGAAAAAAATTAAATTTCTTTAAATACACCAGAGATGAG CAACACAACAAATTAATCTGATAAAAGCATTTCCAAGACAGAAAAAAAAG TCTCTACCTATAAAGAAAAATTCAGAATACTTTTGTCTTGGTTGCCCAAA ACATATATTTTTAAGTTTATTAAGAAATGGATACAGGCCAAGTATAGTGG CTCATGCCTGTTATCCCAGCATTTTGGGAAGCCAAGGTGGGAGGATCGCT TGAGCCCAGGAGTTCAAGACTGGCCTGGGTAACATAGCAAGACCCTGTCT CTACCAAAAAAATAAATAAAAATTAGCTGGTCATGGGGGCATGTGCCTGT GGTCCCAGCTTCTCAGGAGGCTAAGGTGGGAGGACTGCCTGAGCCCAGGA GGTCGAGGCTGCAATGAGCCATGATTGTGCCACCACACTACAGCATGGGT GAGAGTGAGACCATGTCCCCGCTCCCCCACCAAAAAAAAGATTAAAAATT TTTTTAAGAAAAAAAAAGAAACAAATACAAGTCAAGTACAATGCAGCTAT GTTTCAACAAGAAATAAAATGGTCTAAAAATTGTACTTCCTTAAGGTAAG AAGGAAATCTAATGTTTATCAAACTAAGAGGTACAAAGAAGTCCAACAGA TTTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTGGTGAGACGGAGTCTCC CTCTGTCACCCAGGCTGGACTGCAGTGGCGCAATCTTGGCTCACTGCAAC CTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGATTCCAAGCACCTGCCACCACCTCCAGTTTATTTTTGTATTTTTAG TACAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAGCTCCTGACC TCAAGTGATCCACCTGCCTCAGCCACCCAAAGTGCTGGGATTACAGGCGT GAGCCACTGCACCTGGCCAGATTATCTTTCAAATCATTTCAGTGCCCAAT TTCCTTTTCTTTTTTTTTGAGACAGAGTCTTGCTCTGTCTCCCAGGCTGG AGTACAGTGGTGTGATCCCGGCTCACTGCAAGCAATTCTCCCGGGTTCAA GCCATTCTCCCTGCCTCAGCCTCCCAAGTAAGTAAACTGGGATTACAGGC ACCTACCACCATGCTCGGCTAATTTCTGTGTTTTTAGTAGAGAGGGGGTT TCACCAAGTCGGTCAGTCTGGTCTCAAACTCCTGATCTCAAATGATCTGC CCACCTCAGCCTCCCCAAGTACTGAGATTACGCCACTGTGCCCTAGACAC ATTTTCATAAAAAGCAACATTTTATTCATCATAAACACAAAGTTCAAAAA AGCTTTATGCATGATAAATAAGAAGAAAAAATTCCATGTCAATTCACTGA CATGCAATAGTCAACCTCACCTATGGGATTAATAATGCTACTAAGAGGTC TGGTTAGTTTTCCATGAATTGGGTCCCAATGCTAGTTGTATTCTTATTCC CTTAAAAAAACCACATAGCAGAAAGAAGCCACAAAAGGAATGTCTGAAGG ACTCAGATGAGCACAAATGCTACATTACTACTAACGAAGGCTGTCCTTAT TTGAAATTATTCTATTAAAAACGGGAAAATGCACAAGAATGACTCCCCTA TCATATGCCACATAAAATTAACAGGTAAGTACAATTCAGTCACATTCACA ACAGCACGTGTGGCCTCAAATATTATGCATACTTGTTGACTGATGTTAAG TATCAACTTACTGTACAAAGAAGAAATAAAACAAAACCCACAGTAATATA TTTCCTTAAGAATACACTGAGTCGGGGCTGGGCACGGTGGCTT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0333 a0001c0001t0006g0333	1	392	0.0026	-2692	c.75+ others(15): Show c.75+1523_75+4214del	PPP6C	ENSG00000119414.12	transcript	ENST00000373547.9	protein_coding	1/6				chr9	TogoVar
CHN1_chr2_174793809_175010381	174974458	GCAATGAA others(2682): Show GCAATGAAAAAACATTTTCATGTGCTTTTACCAGTCTGCAAGAGAGAATT ATTTATCTCTAATAAGACTTTTCAAATTCCCATAATATAACAAAAAAATG AATTTTTACTGTTCACAAGTGACAATTAGATCAAATTGTTTTCTCATAAA TTTTTAAATATTGGCCTACTCTTCAAAGTCAAGGCAAATATGCTAGTAGT AAATGTTTTCCCAGCACCAATAAAATGTTCAAAAATAAGGGTAATAATAA AGGTAAATAAAATAAAGGTAAGAGTCATATACTTTTGTTCATATCATTAA TAAACACACAACCATGAGATTGGTTTCCTTCATGCACATATAACATATAT GAAATAATTTCAGAAAACTTGAGTTCTCAGTATATATGCCTGTAACTTTA AGTTCTGATTTTCTGCAAACAGGCCATAAGAAATAATTAATACACACACA CACACACACACACACACACACACACACACAGAACAAATCGACACAAGCTA CACTGACCACTGGAGTTAACTGTTGTAGCAATCTTGCCTAACAGACAAGG AAAATAATGTATGTATTTTACTGCTAAATGTAACATTTTCTGAAAGCATA AGAATTTCTAAGAAAACCCCTGGTGGCAAACAACTGCATATTATTAACTT CACTATTTTATTCCTCTACTGCTCAGTAGCAAAAAGCTGACACAATCATA ATTAAGCTAAACTAACAATTTAAAAATATGTATTTATAGTATAAATGCAA GTACTTCCTCTAAAAGGGACATCTACTGGGGGGAAATGGTTCTTTGCATG TGTGTTTGAGAGCCAAATTTTCATTTCTTAGATTTTTTTAATTTTTAAAA TATCCAAGCCTACTAAAACATTGAAAGAATAGTACAAGAAATCAGTATTC TTTCATCTAAATTCACTAATTGTTAGTACTTTGTCCTATTTGTTCTCCCT TCTCTATATTATGCCCTCCCCAAGCACTTCAAAGTAAGTTGCAGGCATGC AACACTTCACCTTTAAATCATTCAGCACTTACCTACTAAAAAAACAAGAA CCTTCTTCAATACAACCACGAAAACATTATCACACCCAAGAAATTAACCC TCTGTACCTGGAAGAGCAGTCATTACCATTTACCACCCAGGTCCATAAGC TCTTTTAATTTATATAAATTTTAGCCAGGCAAAAAAAACAAAACAAACAA AAAAAAAAAAAACAGAAGCAATGATAAGCTAGAATCTATTTGATATAAAC TAGATGTATTTGAAGCCTGGAATCAGTATTTACATAAATGGATATATCCC AGGTTCATACATGACAGAATTAATGAGCAGTTAGTTGATGAGACTTCAAA GAATGCTGCCCTTTTGGGATATATATCTTTAAAACAAACAAAAGTGGCTC ACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGG TCAAGAGATCGAGATCATCCTGGCTAACATGGTGAAACCCCGTCTCTGCT AAAATACAAAAAAAAAAAATTAGCCGGGCATGGTGGCGGGTGTCTGTAGT CCCAGCTACTTGGGAGGCTGAGGCAGGTGAATGGTGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCAGAGATCGCGCCACTGCTCTGTAGCCTGGGCCAA CAGGGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGA CTAAGATTTTGGCTTTCCTGTTTAAATTTTTATTAAAATTTCTGCCATGT TATGTTTCACTATCCTTTTATTACATCTGTAAATTATTCATAAAATGACT TCAAATTTATATAAATTTCACCCAGGCTGGAGTGCAGTGGCACGATCTCG GCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGATCACAGACGCCCACCACCATGCCGGGCTAATTT TTTCTATTTTTAGTACAGACGGGGTTTCACCATGTTGGCCAGCCTGATCT TGAACTCCTGACCTCAGGTAATCTGCCCACCTCTGCCTCCCAAAGTGCTG GATTACAGGCATGAGCCACCGCACCCAGCTGCTTCTGGTTTTGCTTGCAC TTGCCCTGTCAAAATGCAATCAAGATTCCAGACTTCAAAAGTATCTTCAT TAAATTCTAGTTTATCATTACTTCTGGTTTTTCCTCTTGCACTTGCATCT TCAAAACAGAATACCTTAAAGAACTCAGATGGCTCATAATTTTGTTGAAG AAAAGAGAGCCATCTTCTTTGCTCCATAATTGCAAAATATTTTTATTTTT AGATTTATAAAAACCAATTAAACTGATCAATCCAATAAAATCGTTCATTT CTATATCACTCATTTCCTTCCAGTCATTGTTATACACACACCTGTCTTTG GCATCTGTCCACTAAATAACCGCATCAAGTAAATTCTGGTGCACAAACAT CATAAAAGATGAAAAAATACTGTCAATGGTCCTATTAGCAAACGGGATGG TCCAGCATCTTGCTGCAATAAAATCCTTCCTGTTGAATGACTATGTGAGT TTGAATACTATTTCTCCTTCTGTCCTTAGACACATTGTTCACTGTCAATT CTTGAGTTTGATGAAATTCACCTTAGACAACTAGGTTGGCAAACTTCTGT GAAGTTTCAGAAAGTAGATATTTTAGGCTGCAAAACAAAC	G G	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	274	0.0036	-2689	c.20- others(17): Show c.20-24945_20-22257del	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	1/12				chr2	TogoVar
ATAD3B_chr1_1466765_1502848	1497594	AGGTGGCT others(2679): Show AGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGA ATCATGAGGTCAGGAGTTTGAGACCATCCTGGCTAACGTGGCAAAACCCC GTCTCTACTAAAAATACAAAAAAATTAGCCGGCATGGTGGTAGGTGACTG TAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGACTCGCTTGGACCTGGG AGGGAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCGGCCTGGG CAACAGAACTGTTTAAAAAAAAAAAAAAAAGCCCTGATGGAGCCCAGCAC AGCAGCTCACGCCTGGAATCCTAACACTTTCCGAGGCCTGGGCGGGTGGA TCTCCTGAGCTCATGAGTTTGAGAACAGCATGGCCAACATGGTGAAACCC CATCTCTACAAAAAATACAAAAGAAAAATCCAGGTGCCGTGGCTCACTCC TGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCA GGAGTTCGAGACCAGCCCGGCCAATGTGGTGAAACCCCCATCTCTATTAA AAATACGAAAGTTAGCCGGCATGGTGGTAGGTGACTGTAATCCCAGCTAC TCGGGAGGCCGAGGCAGGAAAATCACTTGAACCCAGGAGGCAGAGGTAGC AGTGAGCCAAGACCCCGCCATTGCACTCCAGCCTGGGCAGCAAGAGTGAA ACTCCGTCTCAAATATAAAATAAAAATTAGCGGTGCCTGGTGGCATGTGC CTGTGGTCCCAGCTTGTTGGCTTAGCTAGGAGGATCGCCTGAGCATGGGA GGCAGAGGTGACAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACA GAGTGAGACCCTGTCTCAAAATAAATTAAAAAATAAAAATAAAACCAAAC CCTTGATGATGGCCATGGCGAGGGGTGGGGATGGGGTCGGTGGGTGGGGG TACAGCTGGGGAACTCATTGGGTTTTTCTCCTCTCCTATTTTTTGGTACA GACGGGGTCTCTCTTTGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAA GCGATCCTCCTGCCTCGGCCTCCCAAAGTGTTGGGGTTACAGGCCTGAGG CACCGCGCCCGGCCTGTTTGTTTTTTTCAGACGGAGTCTCACTCCGTCGC CCAGGCTGGAGTGCAGTGGTGAGATCTCGGCGGCTCACTGTGTTTTATGT AAATTTTCGGTGTCGCAAAAGAAGTAGCACTCGAATGTTAACTTTTCTCA GCTGCGAAATTTACTTCTATAGAAGGGGGCGTCTCATAGCTGGAGCAATG GCGAGCGCCTGGACAAGGGAGGGGAAGGGGTTCTTATTCCTGACACAGGT AGCCCCTACTGCTGTGTGGTTCCTCTTTTTTTTTTTTTTTCTTTTTGAGA CAGAGTCTCATGCTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCAGC TCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCTGAGTAGCTGGGACCACAGGTGCCCGCCACCACGCCCAGCTAATTTTT TGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGACCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCAGTGCGCCCGGCCTGGAATACCTTTTTTTTTTTTTT TTTTTTGGTCTCGGCTTACTGTAACTTCTGCCTCTTGGGTTCAAGTGATT CTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGTGCCACCAC GCCCAGCTACTTTTTGTATTTTTAGTAGAGAGGGGGTTATACCATGTTAG CCAGGATGGTCTTAAACTCCTGACCTCATGATCCGCACTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCATAGATAGATAT TATGTCTTCTATTCACCCTGGTGGGGTTGGTTCCAAACAGCTCTTTTTTT TTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCCTTGTAGCCCAGGCTGG AGTGCAGTGGCGCAATCTCTGGTCACTGCAACCTCCGCCTGCCGGGTTCA AGCGATTCTCCTTCCTCAGCCTTCCCAAGTAGCTGGGATTATAGGCATGC GCCACCAAGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACC AGGTTGGTCAGGCTGGTCTCGAACTCCCGACGTCAGGTGATCCACCCACC TCGGCCTCCCGAAGTGCCGGGATTACAGGCGTGAGCCACCGTGCCCAGCC TTTTTTTTTTTTTCTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTG GAGTCGTCCAGTGGCACGATCTTGTCTCACTGCAACCTCCGCCTCCCGGG TTCAAGCCATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCA CAGGTGGACACGCCCGGCTAAGTTTTTGTATTTTAGTAGAGACGGGGTTT CACCATGTTACCAAGGCTGGTTGCAAACTCCTGAGCTCAGGCGATCCACC CGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCC GGCCTACACTGATAACTTATAGCAAACTTTACTTTTGTTGAAAACCTTGG GAGTTTGGGATTTTAATTATCCTTTGTGGCCGGGTGC	A A	splice_region_variant splice_region_variant	LOW	HG02258.hp1 HG02258.hp1	a0018 a0018	a0018c0035 a0018c0035	a0018c0035t0021 a0018c0035t0021	a0018c0035t0021g0047 a0018c0035t0021g0047	1	274	0.0036	-2686	c.17 others(11): Show c.1778_*4463del	ATAD3B	ENSG00000160072.20	transcript	ENST00000673477.1	protein_coding	16/16				chr1	TogoVar
SOWAHC_chr2_109609364_109623990	109617759	CTGTAATC others(2676): Show CTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGCC AGGAGTTTGAAACCAGCCTGGCCAACATGGTGAAAACCTGTCTCTACTAA AAATACAAAAATTAGCCGAGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTA CTTAGGAGGCTGAGGCATGAGAATCACTTAAACCTGAGAGGTGGAGGTTG CAGTTGAGCCAAGATCACGACACTGCACTCCAGCCTGGGCAACGGAGACT CTGTCTCAAAAAAAAAAAAAAAAAAGATGAATGAAAATATGAAATATATA AACTAGTATCCATTTATTTGCATTTATTGTGGGATTTCAGATATGAACGG TGTAAATTTGAGAAGCACTTATGCATACATGTGGGTGAAAAACCAATCTA ATTTTGTATAAATAAAAACAGGCTCCTGGAAGGTGAAAAGTAGTCATTTG TTCTAAATCTATACATATTACTTGTATCTAGTGCAGAATAAGCTATAACA TCCCATTGAGGAATCTTAAATTTCATAGACATGTAAAGCTGAAGTAACTC TAAAGAGCAGATGCTTCAGAACCATCAGAAGGTTCTGGTCAACAGTCAGT ATTATCTCTTAAATGTATATGTTGGTCACTAATTGCACAAAATCTATAAT TTGCCAGGGCTTTAGAGATTGAGTCAATATGTCATTTACCATGGTTTTCC CACTGAAGGCTTTAACTTTTCTGATAAAATAATATTTTAAATTTTCAAAA ACCCATTCCTGAGGAGAACTACTTCTAGCATTCCTTTTCATGATGTGCTT TTGTGCAGTAAGTAGCATTTTCGGCTACTTAACTTTACATTCCTCTTATT TTTCAGTTTCCAGTCAAGATTATAAAAAGCAAATGATTGATATAATTTGA TATTCATAGAGTTGTGCCTACCTTTAATGGAAAAATACATGTCAGATACT TAGATGTTTATTGATATGAGACTATGTGGTTAAAAAACCCAAGTATGTCC ATGTGTTTCTTATAAGGTACACTTGAAACTAGTGAGTGTTTGTCACATTT CACTTTCATGGTATATAAAATGCAGTTTGCATATATAACTTGAATATCTG GTACTAGTTTTTTCACGCCTGCAATCTTGGAGTCTAGGTTGCCTTGTCTC TCCTATTTTTAAATAAGTGAAATTTGGGAGATTGTAAAATCTGTAAAGTT TGTTTTGTGAAAATAAAATGTTCACAGTAGAATTTTTCTCTGAATTGTCT AAGTTTCTGTCGTCCTTTAGACTTTTTACATATACTGTGTTTTACAGTTC ACAAAATGCTTTTTGAAGTTTCAGTTTATTTGACCCTTTTCCTATCCCTT AAGATTATGGGCCATATATTGTTGACTTACAGATAAGAAAATAGAGGTTA ATGGTTGTTCAGGGTCACACAGTAAAAAGCTGTTAGTAAGATTATAAGAG TCAGGGCTTTCCCACAACGTTATCTTTTCTGCACATTGAATTGCCACATT TTTAGCAAAACTGCTGTAGTTTGGCACCAGTGATGGAGGAATCAACTTGG AGAGAAGGTAATACCTCCACCACTACCTAAAAAAAAGCTGTATGGGTTTT GCACACACCATCTGCCATAAACCTGCCCTACCCAGGGCTGACTTCAAGAC AGGTGTAGGAATACCGTTTTTCATTTTTCAGCCTCTGTGAAGCATTGAGA GTTAATTACCTCATCAAGGCTTCCTGTGATCTGTATTTTTAGCAAAATTC AACTCTGTTGAATGGCAAAGGGATGTGGTACTCCTTTGGTGTAATCGCCC ACTATTGCTCTATCCGGGAGATCCCACTGTGATGGCTGCTGGGGTTATTC TTGTTTTATGATAACCCATAAAATATTTTTCAGGATCACTGAAAGACTAG ATAAGTAGTTTGTTTTTCTAGAATAACTTCTTTCCTTAGAAGTACATGTC TTAAAAGGATTTATTAACCAGTTCACTTAAAGATATTTTTGAAATTTTCC TAGTAAAAATTATTTTTATTTTGCTAAGTAAATAGCATTATTTGGAGTTT CTTACATGATTAATTCCAGGATTAAATACTTGGAATTTGCTGTAAACCAG TATTCCTTCAATGATCACCCAAGTCTTCATAAATCACTGAATATTAGAGG GTTGGAAGATGACTCTACAGAAACTTGTTTCTCAAGATACAGAAGTCATG TGGTTCACATAACTACCTGCTTTTTCCATGAAGAACACTATACTTTTTTT CTCAATCTTCTCTTTAAATGTCAGTTTCATCTCAGTAAGTAGCTTTCCTA TTCTGTTAACTAATAGCCTATTTTTCCACATCGATGCATTGGTAAGGAAT GTGTGACAAATGTTCTACCCTTGCACAGTGCCTGGCATGTTGAAGGTACT CAGTAAGGGTCTTTTAATGGAAAACATTAAATATTTTATAATGTTACATA ATATGGATAATTCAATTACATGCATTCATGCTATGTGAATAGTTTTTTTA TATAACATGGCTCTTAAATACCAGCCTATCAGTTCATCTGCAGCTCAGCC AAAAGAACAGCAAGTTATTCCAATCCTGAAGATAAAATCAGCTTTATTAG AACTGTACTTCGTGAGCGATTTAAGAGATTTTCAAGAGTAAATTTGATTA TAAGAAAATTTTGCTGGGCGTGGTGGCTCACGCA	C C	splice_region_variant splice_region_variant	LOW	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0000 a0001c0001t0009g0000	1	430	0.0023	-2683	c.16 others(11): Show c.1693_*4375del	SOWAHC	ENSG00000198142.5	transcript	ENST00000356454.5	protein_coding	1/1				chr2	TogoVar
XRN2_chr20_21298331_21394825	21305452	GCCATGTT others(2675): Show GCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCT GCCTCAGCCTCCACAGTGCTGAGACTACAGGCATGAGCCACCATACGTGG CCTTTTTTTTTTTTTTTTTTTTTTTGGATTTTTAGTAGAGACGGGGTTTT GCCATGTTGGCTATGCTGGTCTCTGTCCTGACCACACGTGATCCGCCTCC CTGGGCCTCCCTTGTGCTAGGATTACAGGTGTGAGCCACGGCGCCCGGCC CATCTTTCTTCCTTTAAATCGTTTTCTTAGTTTTTATTCTTAATTCTTTT TTTTTTTTTTTTGAGACGGAGCCTCGCTCTGTCTCCCAGGCTGGAGTGCA GTGGCTCAATCAATCTCGGCTCACTGCAAGCTCCGCCTTCGGGGTTCACG CCATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGCGCCCGCC ACCACGCCTGGCTAATTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACC GTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTCTGATCCGCCTGCCTT GGCCTCCTTATTCTTAATTCTTAAGAAATGCTGTGTGGGATGTGAGATTT CCGAGTCATTGTAGGACCCAAAATAGCTCCATTCTACCCTTATACACGTG AATGATCATTAGCTAGGCATGGAATTCGAGGTGTTTTTTTTTTCTTCTTC TTTGAGACGGAGTCTAGCTCTGTCACCCAGGCAGGAGTGCAGTGGTGTGA TATCGGCTCACTGCAGCCTCCACTTCCCGGGTTCAAGCCGTTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCGCCACCACGCCCGGCTAA TTTTTGTAGTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAAGCTGAT CTTGAACTCCTGACCTCAGGTGATCCACCAGCCCCTGCCTCCCAAAGTGC TGGGATTACAGGCATGAGCCACCGCACCTGGCCAGGAATTCCAGTTTTAA TATTAGGTTCCCTCAGAACTTTGAAAGAAATTGTTCTTTTGTACTCTCTC ATCTAGTAGTGTTGATGACAAGTTCGGTGTTAATGTGATGTATTTATTTA ACCAGCAGTTATATAGCATTTACCATTGTTTTAAGAACTTTATTATAACT TGTTTGATCCTCACAACCACATGACTTCTACTGTTGTAATTATTTTTATT ACATACAAATAATAGAAGCACGTTATTTGGAGACAACCAATATTGTTATT ATGTTATAATAATTACTATGTTTATTGGCCGGGTGCGGTGGCTCACGACT GTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACGAGGTCAAGA GATCCAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAAT ACAAAAATTAGCTGCGCATGGTGGCGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATCACTTGCACCCGGGAGACAGACATTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCAT CTCAGAAAAATAATGATTATTGTTATGTTTATTATTATTTCAGATGAGAA AATGGAAACACAGCAGGGTCGCGTATCATACCCAAGGTCACTCAGCTGAT AAATGTCAGAGCTAGTGTGGAAACCAGAAGGACTTAATTTTTATGCTCAT ATGCTTTCATTCTTTTGTGATCAGTTTTCCTTCCTAGATTTTAAAAAGAT CTTTTTCTTGATAGTGTAAACTTTCATTATTAGGTACCCAGGTATAGATG TTATTTTAAATTCAGATTCATTTTGATCAGTACGTGGCTCACTCTTTGAG TCTGGAGTCTTACGTTCTTCGGTTTTAGGGAATGCTGTTTGATGATTTCT TGACCTTTTTTTCTTCCCTTTCCAGACTCAGGATACTGGTCCTCTTAGAC TCATGTATTTTTATTTTTATTTTCTCTCTCATTCTCTGGCTTTCCTTGAA ACCTCCCCCAACCTTTGGTGTTTTTGCAGCTTTGTTGAGGTATACTTGAC ATAGAATAAACTGCAGGTAATTAAAGTGTACAATTTTCTTTTAACTTTTT TCGAGTTGAGGTCTTGCTCTGTCACCAGGCTGGAATGTAGTGTGCAATCA TGGCTCACTGCAGCCTCAAAGTCCTGGGCTTAAAGTATATAATTTAATAC AGTGCATACATCTGTGAAACCAGCACAACCAAGACAGTGAACGTGACCTC TAAAACATTCCTTCTGCCCTTTTGTAGTTCCTTTCTACTATCCCTCCCTG CCACCTGTCTTTTGCCAACCACTGACTGGTTTGCTTTCTGACCGTATGAT AAGTTTTCATTTTCTATAATTTTTTATAAATGAGATTATATAGTATATAC TCATTTTTTGCCTCAGTTACTTTCATTCAGTATACTTATTTTGAAATTCT TCCGTTGTTGTATGTGTCAGTAGTTTATTTCTTTTTTGTTTTTATTTTTT TTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGA TCTCGGCTCACTGCAACCTCCACCTTCTGGGTTCAAGCAATTCTCCTGCC TCAGCCTCCCAAGCAGCTGGGATTACAGGCACATGCCACCACACCCGGCT AATTTTTGTATTTTTAGTAGAGATGGAGTTTCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(148): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01167.hp2 HG01168.hp2 HG01192.hp1 HG01256.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG04115.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18940.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp2 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19076.hp1 NA19078.hp1 NA19079.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0004 a0001c0006t0001 a0001c0001t0001 a0001c0001t0004 a0001c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(143): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0112 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0270 a0001c0001t0004g0038 a0001c0006t0001g0221	151	276	0.5471	-2682	c.75+ others(15): Show c.75+1989_75+4670del	XRN2	ENSG00000088930.8	transcript	ENST00000377191.5	protein_coding	1/29			INFO_REALIGN_3_PRIME	chr20	TogoVar
C4orf19_chr4_37448925_37598510	37490019	AAAAAAAG others(2672): Show AAAAAAAGAAAAGAAAGAGGATAGAAAAAAAGAGTGTCATGAATCAATCT AAGATTCTTGTGAATCAAATTATATTCTTTGTATCTATTTTTAGAGAAGG TAATTGAAACTCAATTTTCAGCACTGTATACTCAGTTTTCATTGCTCTCC TGTATGTTAATGCATAATTCTCATAACAACCATATGGAATAGGTATTAAT ATCCCCCAATTTATGGGTGAGGAACCATAGGAATAGATTAACTGACTTAC ACAAAGTCGTAAAGTTAGTAACAGGAGGTTTGAACCCAGCAATCTTAATC AACCCGGCATTTTTCTCTTAAATGTAGAGACCCCTTCCCCTACTTTCATA TTGGTATTTTTAAAAGACTAGACTCATGTTCTTCCTTTTCATGTACTAGA AACGTGTAGGAGTGACTTGGCCAATGCTACCAAGAAGAGCGTTGACTTTA ATGCAAACGTCTACCCGCGTTTGTAGTAGTTTCCTTTCTTTGTCCCCTGC CAGGTTCTCAAGCAGAGCTTAACTCATGGAGACAGGTAAATATTAACTTT TAGGTCAGCATCACCATACGTCACACACAAGAGTCTAAACAGAAGGGTAC TTTGGTCTCTCCCGGCTTCTCCTCTCACCTGGACAGAGGAAGATAGAAAT GCAGCCTCCTTTGTTTCTCTAAAAATCAGAAGATGGCTTTGCCACCTTCA TTTGATGGGATCAGATTGTGTTTTTGCATGTGTGTGTATAATACATACCA AATTTTAATGATCAAAATAATCAGGGGACTCTACTCCCAGTTACCAGATT TCTGTGTGTTTGTGTTCAAAAGTACAGACACATGTACAAAGAAATACAAT AAACAAATGTAGAGTTCAAGGGACATTAGAAATTAGTACAATTCTATTTA TCAAAAGGGAAAGGGAGTACCCCCAAAATTGTTTACCAAAATCACATAGA TTCTATTTTGATAAAGTCTTTACTTTTTAGCTCTATTTATACTATTACAC TTTAAATCATTTTTTAAATTTTATCAAAGTTATATACTAGAATATAAAGA GCCTGCAGATTTCATAAGGTTCCTTAAGGAAAAGAGCAGTCCTCAGCCAG CCAGCCTACTTCCAATCCACCTTCCTCAAACCACTTTCCACTCTTTGCCT GGTATTTACTTCCTGACACCTTAATGTCAAGTGTTCCTCCTGATTTTTTT ACTTGGGATATTGTACATTGACTTTCCGCTATGGAAGATGATGGCTTAGC TCTTTATTCTCTCTGTCCACACCACAGGCAGTTAATTCCCATCCTCATGA TATAATTATATCTCGATTTCAATTAGAAAAATATTCAATTTACATTATTC ACATTATTATGACTATATGTGATATTCAGAAATGGGGCATATGCTCAACT ATATTTTTGTGGGAACACAATATCCCTGGAGTTAGTTTTTTTACTTGTTT GTATGGTTTTATCTGTTTTTCTTGTGCATTTTTTTAACGTACTTAGCTTT CATTAATAATATTTGCCAATTGTTAATATTCTTTCAAGATGTTCAGTGAG TCCAGCAGTTTCCTACCAGGTACCTTATCAATTCTTATCAGGTATCTTAT CCTATGTTGTAAAATTTCACAATGATATCCCTTGGTGTGAGTTTATTTCC ATCTACTGGGCACTCAGTGGTCCTTTGAATCTAGAAAATCTACCCTCCAG TTTGGGGGAATTTTCTTGAATTATTTTCTTGATGTTTTCTTCTGTGGGTT TTTATTTTGTTTTATTTCACTTTCTAGATCTTCTAGAATTATTGGATTAT CTGCCTTTATCTGTCCTCTTATCCATTTATTTGTTTTTTCACTCTAATTT CTTTATTTTAATTTACATTCCTTTGATGGAGGTTTTTATATAATGCTATC ATGTTTTTCCTTTCTAAGAGGTCCTTTTTTATTCTCTGAATGGCCTTTTT GTAGAAGCATTATTTTCTTGCTTCATTAAGCAAATATGGACACAGGTCTA TATTTTTATCTTTGTGAATTATTTTTTCTTTTTTTTTTCTTTAGGTGGAG TCTTGCTCTTTCTACCAGGCTGGAGTGCAGTGGCGTGATCTTGGTTCACT GCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAA GTAGCTGGGATTACAGGTGTGCGCCACCACTGAATTTTTTAACAATCATC TTTAAATTTTTCTTTTACCTCCATAGTTTCTGGTCCCTCCAGATTGTTTT TGGCTTTCCCCGGCTACCTGATAGTCATTGGCGTTCTGCTCATATATAAG AGCAAGGGACTAAAACTGAAATTCTGAACATCTTCTGAGACAGGAGCATG GCATCTGGTCTGAGGAGGTGCTCAGCCTCACTGATGGTGATTCTCACTGG AATGATCTGGCTGAGCCAGTTGTTAGGGAGCTTCCAATGTCAGTGTCTTC AGGTACTTCTGCATAGTTGGTTGGATCCTGTAACAAAGCTCTTCCAAACA CTTGCCTGGAAGGTATGGACCTTGCTGCCAGGAGGTGAAGGATGAAGGTG AAAAGGAGACTTGGGTAATCTCCCTATGCTTCGGGCATATTTACTTAATC CTCCTATCTTACATAGTATCCCACGTTGGATATGCCTGGTACATCTCCCA ATTCAGAAACCTTCTGGTTTGGCCCTCACC	A A	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0211 a0001c0001t0052g0211	1	352	0.0028	-2679	c.-73 others(19): Show c.-73+35983_-73+38661del	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	1/3			INFO_REALIGN_3_PRIME	chr4	TogoVar
DLGAP2_chr8_732628_1713476	1404191	ATCCTCCT others(2672): Show ATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCATCGTCC TCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCT GAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCATCCTCCTGAGT CGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTG TATTGAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATT GAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGT GCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTT ACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTG AGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCG CCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCC CTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCC TCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGT CCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTC CAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGA GTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAAAGTCG TGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTA TTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGA GTGCTTACTGAGCGCCCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGC TTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTAC TGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAG CGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCT CCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCT CCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCATC GTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCCCCCTCCTCGTCC TCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCT GAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCTGAGT CGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTA CTAACTGAGCGCTCCCACCTTGTCCTCCAGAGTCGCGTAACTCAGCGCTT ACTGAGCGCCACCTCCTTGCCCTCCAGAGTCGTGTATTGAGTGCGCACTG AGCGCCACCTCCTCATCCTCCAGGGTAGTGTATTGAGTGCTTACTGAGTG CCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCC CTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCC TCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGT CCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTC CAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCGGA GTCGTGTATTGAGTGCTTACTGAGCGCCACTCCTTGTCCTCCGGAGTCGT GTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCAGAGTCGTGTAT TGAGAGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAG TGCTTACTGAGCGCCACCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCT TACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGAACTTACT GAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGC GCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGAACTTACTGAGCGCTC CCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTACTGAGCGCACCACAG TGCTTACTGAGCGCCACCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCT TACTGAGCGCCACCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCTTACT GAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGC GCCACCTCCTCGTCCTCCAAAGTCGTGTATTGAGTGCTTACTGAGCGCTC CCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTC CTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTG TCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCGTCCT CCAGAGTCGTGTATTGAGTGCTTACTGAGCACTCCCTCCTTGTCCTCCGG AGTCGTATATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTC GTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCTGAGTCGTGT ATTGAGTGCTTACTGAGCGCCACCTCCTCG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0023 a0001c0002t0027g0023	1	38	0.0263	-2679	c.107 others(19): Show c.107-97168_107-94490del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14			INFO_REALIGN_3_PRIME	chr8	TogoVar
GHR_chr5_42418439_42726878	42628209	TTTATATG others(2672): Show TTTATATGAGTGCACGATAGGGGGTGTTTTGGGCCAAAAGGTAGCTTTTT GGACATGAAAACGGAAATGCCTGTTCCCATTTAGGGCTGCAGGTCTTCAG GCTTGAGGGTGGGGCCTTTGCCCAGGAACTACCCTCTTCTACCCAGTGTT TCCCTGTCTCCTGTCCATATCACCAGTATTCACAGTCTCAAGGAGTCTTG AGAAAGTGTGCCCAAGGCCGTCAGATTCAGTTTGGTTCTGTATGTTTCAG GGAGGCAGGAATTACAGGCAAAGACATAAATCAGTACATGGAAGGTATAC ATTGGTTCACTCTGAAAAGGCAGGATGTCTTGAAGTGGGGACTTGCAGGT CATAGTTTGGTTCAGAGATTCTTTAATCTGCAGTTGGTTAAAGGAACAAA ACTGTACAGAAGCTTCGAGTTAGCAAAAAGAAATATTTAAATTAAGATAA GGATGCTATGTCAGAGTCAGCCACAAAATGACCTGTTTAGCAAGATTAAT GGCCTATAGGTGTGACTTAACCCTTGCCTTGCATGGCCTAAGGTCTTGTT TATAATTTAGTATCTTATTGCCCAAAGAGTCTATTTAGTCAGTCTTATGA TCTCTACTTTAACATTAATGCTGGTCACTTGTGCCTAAACTCCAAAGGGG AGGTATATCCAACCTGCCTTCCCATTGTGGCCAGGAACCTTTCTCTGGAG TCCCCTTGGCCAAGAAGGGGTCCATTCGGTTGGTTTGGGAAGCTGAGGAT TTTGTTTTTAGTTTACACAGGGTCATATCAGATTGTTTTGATGGGGATGA CTAATGGTTTTCTTCTCTTTCTGTTTCAGCCACAGCAGCTATCCTTAGCA GAGCACCCTGGAGTCTGCAAAGTGTTAATCCAGGCCTAAAGACAAGTAAG AATTTCAGTCCTTTTTCTTCCTTCAATGATATTTTCCATGTTTTAGTGTA ATTAAGCTACTATCCTTTCTCTATTTTATTTGGGATGGTAGTAACTGGAA TAGTGACTGAGTTGAAATTTTATAGGCAAGCAAAACATTTTTTAAGGATT TATTTTTTAACTTCTGATATAGTTTGGATGTTTGTCCCTTCCAAATCTCA TGTAATCCCCAATGTTGGAAGTGGAGACTGGGAGGAGATGTTTGGGTCAT GTGGGCAGATTCCTCATGAATGGTTTAGCACCCTCCTCTTTGTGCTGTCC TCACCATGAGTGAGTTCTCATGAGATCTGGTTGTTTAAAAGTGTGTGGCA CCTCCCCCTTCAATCTCTTGCTCCCACTCTCGCCCTGTGAGACACCTGCT CCGCTTCACCATGATTATAGGCTTCCTGAGGCTTTCACCAGAAGCAGATG CTAATACAGCCTGCAGAACTGTGAGCCATTTAAATCATTTTTCTTTATAA ATTACCCAGCCTCAGGTACTTTTTTATAGCAATGAAAACAAACTAATACA ACTTCTGTGCAAGGCTGCTTTTTTTTCTATTTTTTGCTTGTGCTTGGAGG TTAAGTAAGGCCAAATTAATGAAGGAGGAAAAAAGAGGAAATGATACATC ATGGATCAACAATTATTTATTGAATTTAGGAAACTGCCTCTTTTTATAAA TTCTTTTTAAAATTATTTTCATTATTATCTTGAAGTATTTATCTAAGGTT TACACTGGTAGAAAGTTAAACTTGTCTCTCCAACCAAATTGCCTTAAGCT TCAAAATTATGCCTTATTGTAAGCTCTTTCTTAACCTTAAAATGACTTTA CACATTCCCCGCTGGTCCTTTGACAATCTCCTCTTCAACCACAAGACAGA ACCCCACCATCAACTCTGTGGGGAAGCGTCTCCAAATTCTCTAGTCCTGA ACAACATTCTGCCTTCTCTGCTTCCATGGAACTTTGTCCTTTACAACATG ATAGCGTTTGCCTCCTGACATTTTAGTGTGTGTGTTAGCCCTGCATATAG AACTCACCAGATTGTGTGGACTGCATGAATGAATTAATTCTATTGAACTT TAAGGCAAAGCCTAAACTTTATGCTTCTTCTAAATCCCTTACATCTCCTA AAAAAATTCTGATCCATAGTAGTAGGTACTTGTTTAATTAAATTTTAGGG ATGGATATTTTTCATCAGTGGAAGTATATGCTAGAGTCCATATTATGCAA TAAGGGAAGGGAAGACAGTGTACCTAAATCAGTTAAGATATTGCTATTCT TGTTGTTATTCTAGAGTCACGAAATCATAATTTGAATTTTATGACTAAAT TGCAGAATTAATTTCCAATGTGAGATTTTAACATTATTTCCTTGGAGGTG ACCAAAAAGGAGAGCTGGTACTGTTTTTAACAACTGTCATTCAATTGTCA GTTGTGCCAGACCACAAATCCTTTATAGCCCTCCTGTTTAAGAAGCATCT GACATGTTAAGCTGCTCCCTAATTAACACAGAGGTTGTAAAAGAAGTGGC TGTTTGGTTCTGTTTGGGTTTCCCAGCCAGTATATTCCAAAGCCTTTTTT CACTCAACAGATGAGTTATGTGCTTTATATTCTGTAAGGAAATGAGAAGT AATCAGTTGAAAATGTGTTACTAATGGTACATGCTTCACATTGAAACCAT CCTCCTGACACAAACATAATACTTTGCCCTCCACTGTCCCCCAAAGTGGC AGTAGGATTTCTCTAAGTAATTTTCTTTAC	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00280.hp2 HG00423.hp2 HG00621.hp2 others(86): Show HG00280.hp2 HG00423.hp2 HG00621.hp2 HG00733.hp1 HG00735.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03516.hp1 HG03669.hp2 HG03688.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18943.hp1 NA18967.hp1 NA18995.hp2 NA19000.hp2 NA19006.hp2 NA19007.hp2 NA19030.hp1 NA19043.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0008 others(2): Show a0001c0001 a0001c0004 a0001c0008 a0001c0009 a0001c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(22): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0023 a0001c0001t0028 a0001c0004t0011 a0001c0004t0012 a0001c0004t0016 a0001c0004t0017 a0001c0004t0018 a0001c0004t0029 a0001c0004t0030 a0001c0004t0031 a0001c0004t0032 a0001c0004t0033 a0001c0008t0003 a0001c0008t0007 a0001c0009t0001 a0001c0009t0006 a0001c0012t0002	a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0021 others(86): Show a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0021 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0063 a0001c0001t0002g0086 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0127 a0001c0001t0002g0137 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0002g0188 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0004g0051 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0129 a0001c0001t0004g0157 a0001c0001t0004g0171 a0001c0001t0004g0180 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0209 a0001c0001t0005g0025 a0001c0001t0005g0046 a0001c0001t0005g0067 a0001c0001t0005g0077 a0001c0001t0005g0079 a0001c0001t0005g0080 a0001c0001t0005g0082 a0001c0001t0005g0098 a0001c0001t0005g0101 a0001c0001t0005g0131 a0001c0001t0005g0183 a0001c0001t0013g0039 a0001c0001t0013g0040 a0001c0001t0013g0065 a0001c0001t0013g0066 a0001c0001t0014g0060 a0001c0001t0014g0087 a0001c0001t0014g0104 a0001c0001t0015g0093 a0001c0001t0015g0094 a0001c0001t0015g0141 a0001c0001t0020g0045 a0001c0001t0020g0058 a0001c0001t0023g0099 a0001c0001t0028g0108 a0001c0004t0011g0001 a0001c0004t0011g0002 a0001c0004t0011g0139 a0001c0004t0011g0163 a0001c0004t0012g0007 a0001c0004t0012g0010 a0001c0004t0012g0130 a0001c0004t0012g0177 a0001c0004t0016g0023 a0001c0004t0016g0027 a0001c0004t0016g0028 a0001c0004t0017g0015 a0001c0004t0017g0055 a0001c0004t0018g0152 a0001c0004t0029g0118 a0001c0004t0030g0149 a0001c0004t0031g0117 a0001c0004t0032g0004 a0001c0004t0033g0006 a0001c0008t0003g0150 a0001c0008t0003g0162 a0001c0008t0007g0083 a0001c0008t0007g0084 a0001c0009t0001g0112 a0001c0009t0006g0081 a0001c0012t0002g0115	89	208	0.4279	-2679	c.71- others(15): Show c.71-815_136+1798del	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	3/10			INFO_REALIGN_3_PRIME	chr5	TogoVar

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