Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ABTB2_chr11_34145987_34363010	34272706	CAAAAAAA others(1450): Show CAAAAAAAAAAAAAAAAAAAAAAAAACCAACCAACCATACACACTGGAAT AATGTTGTGTATGTATAGTTTGATATCATTTTATCGTATATATGGTTTAT TTCTATAACAACTTGATAACTATCATGAGACGCAGTTCAGAGCTGTGGTT AAGTGTACAGCCTCTAATTCCAGACTGTCTGAGTTCTAAAGTTGGCATGG CCACTACTAGCTGTGTGACCTTAAGCAAATTACATAACTGCTCTGTGCCC TAGTCCCCTAATCTGTAAAAGGGAAACAACAATAATAGCGTTTCTTAAAG GCTAGGAAGATTAAATAACTTAATATATATAAAGTACTTAAACCGTCCTG ACATTTAGCAAACATTCCATGATTTTTAGCTTTTTTTAAATTAAAAAAAT TTTTTTAAATTTTTTGTTATAATTATGTTTACTATTTTTACTATTCCTGG GTCCCAGAAAGGGAGGGGAGTGAGGAAAATCTTGGCCTGACTTCCGCCAC AGGGCTCAGGCCTTCTTTTCCTTTGGTTAATGGTTGTGATGCTTTATGGA AGTGAGCCAAGGATACACCAGGGGTCTACTTTTGTTGCTTTGTTTTGGAA TAAACCCATGTTACAATTTTGAGAGAAAACTCCAGGCTGTCCAGGCCTGC TCTTGCAAGGCCCGGGGTCTCTCTGTTGGGGAACCTCGACCGACTCCAGG TTTGCTGCTTCAGAGAGTAAGCTGGCAGGGGATGCAGAAGGGATACAGTG GGCTGGTTCTACTCACTTCTCCACTGGACGAAGCCAGCATTTGACCCCAG ACAACAGCATCCCCAGGCATTCTGTCTTCTGCTTAAAGACTCCTCCTCCA TCTGAACTGTGGCCCCTTGATGGGCTTCATGGCTGAGTAACACTGGCAGA CCTCCGAGGAGAGGGATGGAACAGGGCCTGATCTGACAACAGCCTCCCAG AGAGAAGTGACGGTGGCTACACAGTCTGGCTTCAAGGTCAAAGTTCCTAA AACCTTGCATCCCTTTATGCACTAGTACTGGGGCAACGATCTAGAAAAGT GAAAGGAACTCAGACACCTTTGACTGCATCATGGGCATCACTCTAAAGCA GGCTGGAGGGAAGGAATAACAATAATTATAACAAGTGAGACCCTGCCTCA AAAATAATGATATTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCACGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0243 a0002c0002t0026g0243	1	172	0.0058	-1457	c.884 others(19): Show c.884-69473_884-68017del	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	1/16			chr11	TogoVar
MALRD1_chr10_19043801_19739478	19707622	TTGAAGTC others(1450): Show TTGAAGTCATGGGTTTGATGTGCCATTTAAAAATATTTCCATTATGACTG GGTGCTGTGGCTCATGCCTGTAATCCCAGTGCTTTGGGAGGCCAAGGTGG GAAGACCACTTTAGGCCTGGAGTTCAAGACCAGCCTGGCTAACATGGTGA AACCCCATCTGTACTAAAAAAAAAAAAAAAAAAAAAATACAAAAATTGGC CAGGCATGGTGGCATGCACCAGCTACTTGGGGGCCTGAGGCAGGAGAATC GCTTGAACCCAGGAGGCAAATGTTGTAGTGAGCTAAGATTGGAGATTGGC CACTGCACTCTAGCCTGGGTGTTAGAGCAAGATTCTGTCTAAATATGTAT TATTTTTCATTATACCTTTAATATAAAATTTAATTATAAAATTAAATTTT TATATTTTCTCATTTAATACAGAAAGTGAGAAAATAAAAAAAAAAGCAAG CATCAAAGATGATCCCAGAGTATTATACTTAGGTGACTGCACAGTTGATA ATGCTGAGATCTGAAAACTTAAGAGGAAAGCTTATTTGGGCAGTAGGGAA GGAAATAATGTTGATAATATATATTTTCTTATGTATAAAATGAGGAAGTT GGCATAAATCAGTTTTATCCAAACTTCTATCATTTATAGGCTACCCCCAC AATTTACACCATGACTACATATGATGTTATGTGTTTTTTTTTTTAACCTT CTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTGAGACAGGGTCTTGTT CTGCTGCCCATGCTAAAGTGCAAGGGCACAATCATGGTTCACTGCAGCCT CAAGCTCCCAGGCTCAAGTAATTCTCCCATCTTAGCCTCCTTAATAGCTG CAACCAGAGGCATGTACCCAACACTCCCAGCTATTTTTTTTTTTTTTTTT TTTTTGTACAGACATGGTCTTGCTGTATTGTTGAGACTGGATTCAAACTC CTGGGCTCAAGTGATTCTCCTGCCGGGGCCTCCCAAAGTACTGGAATCAT GTGCCTGAGCCGCCGTGCCTGGCCACATTTATTTTTTATTTTTATTTATT TATTTTTTGAGACAGAGCCTCGCATTGTCACCCAGGCTGGAGTGCAGAGG CACGATCTCGGCTCACCACAACCTCCGCCTCCCAGGTTCAAGCGATTCTC CTGCCTCAGCCTCCCGAGTACCTGGGACTACAGGCGCACGCCACCACACC CAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTAACCATGTTGGCCA AGATGGTCTTGGAACTCCTGACTTCAGGTGATCTGCCCGCCTCGGCCTCC CAAAGTGCTGGGATTACAGGCATGAGCCACCACATCTGGCGGGCCACATT TATTTTGAAATGGAAACAGTGTATCACAGAAACATGGATAAGCCTTTTTT TTTTTTCATTTTTTGAAATTGTCTTTTTACTTTGCTCTTTCCTAAGCAAA AATATTCA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00741.hp1 HG00741.hp2 others(42): Show HG00544.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp1 HG01192.hp1 HG01256.hp2 HG01358.hp2 HG01975.hp2 HG01993.hp1 HG02074.hp1 HG02074.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG03098.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG04228.hp2 NA18522.hp1 NA18947.hp1 NA18960.hp2 NA18964.hp1 NA18971.hp2 NA18981.hp2 NA18988.hp2 NA18998.hp2 NA19063.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0004 others(21): Show a0001 a0002 a0004 a0005 a0006 a0012 a0013 a0015 a0016 a0025 a0027 a0028 a0030 a0035 a0039 a0044 a0047 a0063 a0067 a0068 a0070 a0072 a0079 a0080	a0001c0003 a0001c0009 a0001c0013 others(26): Show a0001c0003 a0001c0009 a0001c0013 a0001c0025 a0001c0105 a0002c0004 a0002c0112 a0004c0002 a0005c0019 a0006c0028 a0012c0017 a0013c0011 a0015c0018 a0016c0015 a0025c0098 a0027c0037 a0028c0079 a0030c0088 a0035c0053 a0039c0054 a0044c0074 a0047c0057 a0063c0045 a0067c0080 a0068c0044 a0070c0043 a0072c0078 a0079c0111 a0080c0093	a0001c0003t0001 a0001c0009t0001 a0001c0013t0001 others(28): Show a0001c0003t0001 a0001c0009t0001 a0001c0013t0001 a0001c0013t0002 a0001c0025t0001 a0001c0105t0002 a0002c0004t0001 a0002c0112t0001 a0004c0002t0001 a0005c0019t0001 a0006c0028t0001 a0012c0017t0002 a0013c0011t0001 a0013c0011t0002 a0015c0018t0001 a0016c0015t0001 a0025c0098t0001 a0027c0037t0001 a0028c0079t0001 a0030c0088t0001 a0035c0053t0001 a0039c0054t0001 a0044c0074t0001 a0047c0057t0001 a0063c0045t0002 a0067c0080t0001 a0068c0044t0001 a0070c0043t0002 a0072c0078t0001 a0079c0111t0001 a0080c0093t0001	a0001c0003t0001g0026 a0001c0003t0001g0035 a0001c0003t0001g0109 others(42): Show a0001c0003t0001g0026 a0001c0003t0001g0035 a0001c0003t0001g0109 a0001c0003t0001g0122 a0001c0003t0001g0133 a0001c0009t0001g0031 a0001c0009t0001g0061 a0001c0013t0001g0039 a0001c0013t0002g0073 a0001c0025t0001g0127 a0001c0105t0002g0090 a0002c0004t0001g0005 a0002c0004t0001g0009 a0002c0004t0001g0054 a0002c0004t0001g0057 a0002c0112t0001g0142 a0004c0002t0001g0029 a0004c0002t0001g0030 a0004c0002t0001g0046 a0004c0002t0001g0049 a0004c0002t0001g0143 a0005c0019t0001g0037 a0006c0028t0001g0101 a0012c0017t0002g0071 a0012c0017t0002g0072 a0013c0011t0001g0118 a0013c0011t0002g0066 a0015c0018t0001g0048 a0016c0015t0001g0107 a0016c0015t0001g0137 a0025c0098t0001g0016 a0027c0037t0001g0121 a0028c0079t0001g0144 a0030c0088t0001g0128 a0035c0053t0001g0117 a0039c0054t0001g0036 a0044c0074t0001g0140 a0047c0057t0001g0151 a0063c0045t0002g0084 a0067c0080t0001g0043 a0068c0044t0001g0014 a0070c0043t0002g0148 a0072c0078t0001g0099 a0079c0111t0001g0010 a0080c0093t0001g0004	45	150	0.3000	-1457	c.631 others(21): Show c.6314+15185_6314+16641del	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	38/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
SMOC2_chr6_168436184_168672992	168560558	GAGGCTCT others(1449): Show GAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAG ACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTG AGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCC TGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGC CCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCT GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTG TCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGG TGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGA GGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAG GAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGG AGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTC GGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTC TTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCAT TCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGC GTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACT GCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCA CTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCT CTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGG CTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGA GGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACAC GAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAG ACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTG AGACACA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03130.hp1 HG02896.hp2 HG02897.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0002t0002g0002 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0002t0002g0002	3	173	0.0173	-1456	c.637 others(19): Show c.637+11407_637+12862del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CLSTN2_chr3_139930185_140582397	140549599	AGGGGACT others(1448): Show AGGGGACTGGGGCTCAGGGATTTGTCCAAAATCAGTTCATGCTCTTTCTT CCATATCAGCAACTCAGATTAGAAGACATTCTTGAAAATCATTAAAACAA ATTTCTTTCCTTTCCTCCCTCCCTTTACTCCTCATGTCATTTCTGAATAA TGACTACTATTTTATTGGACAGTTACTGCCCTCCTCCCACCTCTCTGGCT GGTCGAGAGAATTGAGGCCCTTTTGTGATTAAGGAAATTCTCTATCTGCT CACAGGGACAAGCCCATGTTTCTTGCTTTACCTGTCTTCTTCTGAATCAT GCATATTTATGAATATTTCTCCAGCATGTCTGGAGTCCTAAAATGGTTTA GTGGCTGCTGTATTGTATCCATACAAGATACTGTGGAATCACCACATTCC TGAGTAATACCCTGTTCTGATTTTCATAGCACAATCCCTGCCAATTTTTC ATCTCCATCATGTGGAAGAGTGGGAAAGAGCAAGAACTTTAGAACTAGAC ACTCCTAGGTTCAAATCACTGCAGGAGGAAAAAGGTGGAAGGTGCCAGAG AGGTAGGCAGGGGCCATATCAGAGCCCACCTATTAACCATGTTTAGGTGT TTACGTTTTTTTCTGTCAACAATGGGAAGCCACTGAAGGCTCAGGCAAGG GATCATGATCTCAGCATATGTGGGGTTTAGGATGCTCACTCTGGAGACTG GGTAGCATGGGGAAGATGGGAGGAGTACAAAAGTCATGGCAAGGCAAGAT TGACTTTCCAAAACAATGTTTCATGGATTAGATACACACACAGAGTTGCT CTCAATAGCTAATCACTTGTCATTGGGGCAAGCTCAAAAGACCATCTCAT ATTGGAAAGGCCAGTCTTGACGTACTGTTTGTGTTGCTTCCTTAGGGTTT TGTCAATCCAGTGATGCAAAAATCTGTCTTCCTGATGTCTTCTCTTTTTC TGATTCTAAATTTACTCTTTGCATCTGCGTAGATCTTCTCTGCTCTGAAC TGTTCCAGGCAGGCACAGTTTCAGGGTACTAGGCCCCATAGAGCAAAAAC ACAAAGATGCTGGGCTCAAAAGTCATGCCTTTTAAAAATTATAAATTAAA GAACCATAGCAATTTCTAGAGTCATCATAGCCTATGAAAAGAGGAGGTGC TAAAATAAGTGGCACAAAAAACTGTGGGGACTGAGGAGGCTAATCTGATT TTTCAGGATACTGAAACTTTTTATAACCTTTTTATAACCAAGCTTGGTTA TAAAGGCTTGGTTATAAGCCTTTTTATAACCAAGCCACTGCAAATGATCC TCTTCCATTCCTAGGGCATGGCTGGTAAGAACTAGAGCACCGTGTGAGAA GTTAATAAGACGCCCAATTTATGGAGCACCCACTGGGGGCTATTGTATGT TCATTATCCCTACTTCTCACAACAAATTAAATACTATGACCCCATTTCAA AACTAG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03486.hp1 HG02559.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0009t0018 a0001c0001t0002 a0001c0009t0018	a0001c0001t0002g0091 a0001c0009t0018g0018 a0001c0001t0002g0091 a0001c0009t0018g0018	2	110	0.0182	-1455	c.167 others(19): Show c.1674+2966_1674+4420del	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
OR4M2B_chr15_21632909_21643992	21642538	GTGGCATG others(1447): Show GTGGCATGTATAACATGGATACACTGGACAAAGGGATGACTCATGTCCCT GGAAGGATGGAGAAGGACAGCTTGAGATTTCATCCTGCTACTTAGAATGG GGCATAATTTAAAGCTTATGAATTGTTTGCTGCTGGAATGTTCCATTTAA CATTTTTTGGACTGAAGTTGACCATGGACAACAGAAACTACAGAAAGCAA CACTGTGGGTAAGAGGGGGCTACTGTATTTAATCTAGTATTAGGCTTATT AAACTATAAAGACAACTAAGCAGACGTTGAAAACAGAGATCGTCTTCAAG GGAAAGGCAGTCAGGATAATATCTCACTGGTTTCCTTCCTTCCTTCTTTC CTTTTTTTTTCCTTTTCTTTCTTTCTTTCTTTTTTTTTTTTAAGCAGAGT CTCACTCTGTATCCCAGGCTCCAGGGCAGTGGCTTGATCTCGGTTCATTA AAGTCTTCGCCTCCCGGGTTCAAGCAGTTCTCCTGCTTCAGCTTCTTGAG TAGCTGGGATTACAGGTCCATGCCACCATGCTCGAGTAATTTTTGTATAT TTAGTACAGAAGGGGTTTTGCTATGTTGGCCAGGATGGTCTTGAACTCCT GGCCTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGACAGGCA TGAGCCACGGGACCCGGCTGATCTCTTTTCCTTAACAACAAAAAAGTAAA CCAGTGAAGAGTTATATTATGACAAGAGAAAAGAGTTTTTATCTCAGTGA AAATATAATCAAATAAGAGCATCTTCAGAGCTGGATTATACTCCTAAATG TAGTAACTAGAAATATAAAGTATCTAGAAGAAAACACAGAATAATATATT TGCTTACACAATTGGAATAAGCAATGATATCTTAAGCAGCACAAAAGCAG GTGTAATAATAAAAAGTGATCCAATGAACCTCAAAAAATTAAAAATTACT GCTCGTCAAGATACACTATCATCAAATTATTAAGGAAATCATACACTGGG AGGAAAATTTGGTCTCTCTTAATCTCCCTGTTTCTCTCTGTCTTCAAGTA AAGAAAAATCAGCAAAAAATTTGAACAGACACTCCAGAAAAGAAGATACA GAAGTGATCAGCAAGTTCACGAAAAGATGCACGTCATTACTCAGCAGGGA ATGGTCCACAACACACGATCAAGTGTTCAGGCAGAGCGCTCTCCCACTAC TCTGAGGAACAGAACAAAATGGCAGAGAAGGAAAAGAGGAAGGGGTTTAT CAAGTGCCCCAGGAACATATAACATACTGGAGACTAGACACGTCCATAAA AATGACTCAGTTTCCCCATTGCTTGTTAGTGCTGCCTGGTCAGTGGGCCA GATTCATCCATGGCACTAGGAAGGCAGTCAGTTCTCATCCCCTTCGGACG AATCTTTCTAGAAACTGATATAGCCAATTACCAATACATCCTCACCCTCA CGTGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG00738.hp1 others(26): Show HG00423.hp1 HG00558.hp2 HG00738.hp1 HG00741.hp2 HG01109.hp2 HG01258.hp1 HG01258.hp2 HG02080.hp1 HG02135.hp2 HG02257.hp2 HG02717.hp1 HG02809.hp1 HG02896.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03139.hp1 HG03927.hp1 NA18945.hp1 NA18959.hp2 NA18968.hp1 NA18973.hp2 NA18981.hp2 NA18993.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA20300.hp1 NA20300.hp2	a0003 a0004 a0011 a0003 a0004 a0011	a0003c0003 a0004c0004 a0004c0013 others(1): Show a0003c0003 a0004c0004 a0004c0013 a0011c0016	a0003c0003t0001 a0004c0004t0001 a0004c0004t0002 others(2): Show a0003c0003t0001 a0004c0004t0001 a0004c0004t0002 a0004c0013t0001 a0011c0016t0001	a0003c0003t0001g0000 a0004c0004t0001g0000 a0004c0004t0002g0000 others(2): Show a0003c0003t0001g0000 a0004c0004t0001g0000 a0004c0004t0002g0000 a0004c0013t0001g0000 a0011c0016t0001g0000	29	214	0.1355	-1454	c.35 others(11): Show c.3591_*5044del	OR4M2B	ENSG00000182974.3	transcript	ENST00000332663.3	protein_coding		3547		chr15	TogoVar
UNC13B_chr9_35157009_35410335	35372753	GCCCCTGT others(1445): Show GCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTA ACTCTCTGTGCTTGGCAGATACATGGGGCCCTGTGCAAGAGTGTGGCTAG CAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACAT GGGGCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGAC TTAACTCTCTGGGCTTGGCAGATACATGGGCCCTGTGCAAGAGTGTGGCT AGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGTGCTTGGCAGATAC ATGGGGCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGA CTTAACTCTCTGGGCTTGGCAGATACATGGGGCCCCTGTGCAAGAGTGTG GCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGA TACATGGGGCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTC AGACTTAACTCTCTGTGCTTGGCAGATACATGGGGCCCTGTGCAAGAGTG TGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCA GATACATGGGCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTC TCAGACTTAACTCTCTGTGCTTGGCAGATACATGGGGCCCTGTGCAAGAG TGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGG CAGATACATGGGGCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGC TCTCAGACTTAACTCTCTGGGCTTGGCAGATACATGGGGCCCCTGTGCAA GAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCT TGGCAGATACATGGGGCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCC AGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACATGGGGCCCCTGTG CAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGG GCTTGGCAGATACATGGGGCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAG CCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACATGGGGCCCC TGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCT CTGGGCTTGGCAGATACATGGGGCCCTGTGCAAGAGTGTGGCTAGCAAGG CAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACATGGGGC CCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACT CTCTGGGCTTGGCAGATACATGGGGCCCCTGTGCAAGAGTGTGGCTAGCA AGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACATGG GGC	G G	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0009 a0009	a0009c0020 a0009c0020	a0009c0020t0001 a0009c0020t0001	a0009c0020t0001g0103 a0009c0020t0001g0103	1	222	0.0045	-1452	c.954 others(18): Show c.9540+2361_9541-919del	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	13/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
BTBD9_chr6_38163451_38644929	38429983	TCTCCCTT others(1444): Show TCTCCCTTTGATTCTCTTACCTACCCTGGGCTCCCATATCTTCTCAAACA TGTTTGTTTTTTCCTTTCCTGTTTGAAGACCAAACTCCTTACTGAAGAAA AGTAAAGTAAGGTAGGAGATTATAATTCTGTTTTGTCACTGATAGCAAAT AACATCAGATGATTTTTCCTAGGTAGGTACTATCCTTTTCCTTACTTTTT TTCCTTATTATTCAGAATGTGGCTTTAAACTTTTTTATTTTATTTTATTT TTTTAGAAATAGGTTCTCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAT GATCATAGCTCACTGAAGCTTCGAACTCCTGGGCTCAAGGGATCCTCTTG CCTAACCCTCCCAACTAGCTGGGATCACAGGCTTGTGCCACACCACACCC AACTTATGTTTTATGGGTTTTGTTTAGAGACAGGGTCTCATTATGCTGCC CAGGCTCATCTTGAACTCCTGGCCTCAAGCAATCTTCCCACCTTGGCCTC ACAAAGGGCTAGGCATGACCCACCGCAGCTGAAAAAAAAAAATTTTTTTT TGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGGGTGCAGAGGCATGATC ACAGCTCATTGCAGCCTTGAACTTCTGGGCTCAAATGATCCTCCTGCCTA GGCCTCTTGAGTAGCTGGGACTACCCTAAGTATTCCTGGCTAATTTTTGT TTTTTAAATTGTTGTAGAGACAGGGTCTCCCTATGTTGACCAGGCTGGTC TCGAACTCCTGGACTCAAGTGATCCTCCAGCCTCAGTCTTCCAAAGCGCT GGGATTACAGGCATGAGCTACTCCAATAGGATTTTCATTCCCATCACTCC ACTGAAATGTTTCCTGACAAGGCTGCTATCAATTAATCCTGTGCCAACCC AATGGTCAGGTCTGTCCTGGTCTTACTCTTCTCAGCGTCATTTGATGTGG TTGACTTCTGTCTTTTAATGCTTTCTATACTTTGCTTTCACAATGCAGTA CCCTTCAGGTTTCCCTTCTGTCCTTTGACAGCTCCTTCTCATTTCGTTGT TGACTCTACGCCTTTGTCTTGACCTCCAAAGGTGAAGGGCCCCATTCTTC AGTCTTTGTCTCTCTTCTCTTCTCTCCTCTCTCCATAGGAAATCTCACCC AGTCCCATGGTTTTCAATACCCATCTGTATGCTAATAACTCTCAAAGTTT ATCTCCAGTCCTGATTTCTCTCCTGAGTTCCAGACTCATAAATCCTATTG CCTCTTCAATATCTCATGTGGACATACACTAATATTATGATTATGGGTAA TAGTAATAATATTAACAGTAGCAGCAACAATAGCTAACATTTACTGAGAA CACAGTATGTGTCCAGTTGTGTTTTAAGTGCTTCAGGGCATTAATACATT TAATTTTCATGTAAACCATATAGCATACATACTATTACCAACCCAGTTTC AC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp1 HG02055.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0101 a0001c0001t0100 a0001c0001t0101	a0001c0001t0100g0142 a0001c0001t0101g0013 a0001c0001t0100g0142 a0001c0001t0101g0013	2	222	0.0090	-1451	c.115 others(21): Show c.1155-86341_1155-84891del	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
CACNA2D2_chr3_50357613_50508634	50405938	ACTCTGAC others(1444): Show ACTCTGACCCCTGCTCTGACCCTGTTCCTGGCGATCATGAGAACTCTCCA ATCTCTACCCCCTATCCATTGCCCTTCCCCACAGATTCAGACTTCTTGTA GCCACATCCTGGAGCCCTATTCAGGTCAGAGTCAGAGTGGCTCTGCCCCT GCCCCCTGGTCTGGGATCACAGGTCATTGCCCTTTGTCAGATGCAGCCAT CCAGGTGACCGCTAATGAAATACACGAACCCATTGGAGAAGACATGCACA GCTAATGCCATGCAAATTGGCACAGAGGCAATCAGCCTGACTCTAAAAGC TGCCCCACTGGCCGCAGGCTGGCTCATTGTCTTTTCTGTCAATTTGCATC TCATTACCCAGAAGGCTGTGCTCACTGGAGGTTAAAAGAAAAAAAGCACC AAGCAAGCCCCACTGTGTCCTGCCTCCAGCAAGGGCAAAGCCCACGAGTG GGACAGGGCTGCCTGGAGGACTGCCCCTCAGAGGTACACTCCACAGGGAG CCCCCCATCAGCCCTATCACCCCCATCACCCACCATCAATATTATCCCTG CACCACCAGAATGCTACTCCATTCACCATCATCCCCATCATCACTGTTGT TCCCCCCACTTAACCAGCACCAATGTCCCCATGTTCACTGCCAACATCCT CCCCATCACCATTGCCAATATTACTCCATCATCATCAGTGTTACTCCCAT CACCATCAGCTCCACCATCACTACCTTCATCCCCATCACCATAGTCATCA CTTCCATCATCACCATCTTCATCTACCACCATCAACTCTACTGCCAACAT CACTTCCATCACCACCTTTACCATCACTGTCACCACTACGACCATCACCC CACTGTGGTCACCTCTGCTAGTGCTCATGTCTCCTGGTAATCACCACTAC CACTGTGCTCACTGCTACCTGCACCATCACCTCTGTATCCCTGAGAAGAG TCTGATGAAGAGACAGAGACAACTCATTCTTCACCTTTCTCTGTCCATCA CCCTCCAGCATCATCAGAGGGTTGGGGAACCTGTAAACAAATGACTCAGT GACCAGAGAGCTCATAATCAACCTGGATATTGGTGCTTGTATCTAGGTAC CTTGACCTAGGTGCTTGATCTAGGTATCTGTGACCTTGGACATGGAGAAC TGGCCCTGGGCACTCTTACTAAACACACCACAGGCAGGGTCTGCCTTGAT GATCATCCCTTCAAGGTGAAGACAACGAGGTCAGGGGCCCACTGGCCCCC CTATACAAAGGGGGAGCTGAGGCCTGGAAGGACTGTCAGGCCACTGTACC ATTAGGGACAGAGCCTGGACCTGTACTGAGGCATCACAGGTCAGGGCCAG ATCTCTCTCCTGTTTAAGGCCTGTTTGTGGCTTTTGCATCACATGCTCAG ATGGAACCATGGTGCTGGCCAAATTAGACTTCCTAGGCCTGCCACTCGTG GG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG02071.hp1 others(12): Show HG00438.hp2 HG00621.hp2 HG02071.hp1 HG02074.hp1 HG02132.hp1 HG02155.hp1 NA18945.hp1 NA18947.hp1 NA18967.hp2 NA18971.hp1 NA18986.hp1 NA18999.hp2 NA19065.hp2 NA19085.hp2 NA19088.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0027 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0027 a0006c0006t0002	a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 others(12): Show a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0004g0185 a0001c0001t0027g0188 a0006c0006t0002g0192	15	232	0.0647	-1451	c.406 others(19): Show c.406-13221_406-11771del	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	3/37			chr3	TogoVar
TOM1L1_chr17_54895852_54966956	54897335	GATCACGT others(1444): Show GATCACGTGAGGTCAGGAGTTCGAGACCAAACTGACCAACATGGAGAAAC ACCGTCTCTACTAAAAATACAAAATTAGCCAAACGTGGTGGCACATGCCT GTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGG AGGCAAAGGTTGTGGTGAGCTGAGATTGTGCCATTGCATCCAGCCTGGGC AAGAAGAGTGAAACCCCATCTCAAAAAAAAAAAAACAAAAAAAACAAAAA AAAAAACACAAACACACAACACACAAAAAAACAATCAAATGAGAAGGCAA AAATCTCTTAGCTGCATGAATCATGATGGTGGGTTATCTTTGTTTTCTAT ACAGGTGTACTTGCCAAGTTCGGTCACTTCTTTCTACAGACACTGCCCCC TAGAACCCACTTCTTTCAAAATGTGAACTAGTGAAGGGCACCACCTACCA TCTAGAGCTCTATCCAAGAGGGATGACATAGCACAGCCATTCAAGTCACA GGTTCTGGAATTAGACAGTCCTTCCCTAGCAATGTGACTATGTGAAAAAT TATTGACTTATTTCCCCCCCCTTTTTTTCTTGAGATGGAGTCACTCTGTT GCCCAGGCTGGAGAGCAGTGGCGTGACCTCGTCTCACTGCAGTCTCCGCC TCTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGAATT ACAGTCACCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAAAGAC AGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACGTCAGGTG ATATGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCAC CGCGCCCAGCCATTACTTTGGTTTTTCTAACATGAAAAATAAAGTAATAA CCGTACTGGTCTCATAACGTTATTATGTGATTAAATGAGATAACGCATGT AATATGTTTAGAACATATCTGGCATATAGTTCTAGCACAAAAAATATTCG CTATTGAACAAGAACAGAAAAAAAGCAGGACCTTGTGCCAGCAAAGTATA TGACTTCCCCTATTCCTGTATTCTTCAAGAGGTCTTGCACTGAATCAAGC AGATCCTTTAAAAAAGCAAGACATCAGGCTCAATAAACAGATTCACCTAG TGACAATAATATAGGCTTTGGAACCAGGCAGCCATGAGTCAAACTTTAGT GAAGCCATTTATAAACTTGATCTTTCTGAATCTCAGATTATATATTTGTA AAAATGAGGTTAATACTACCCACCTCTCAGGATTGTGAAGATTAAGATAG ATTTCTAGTTGCAGACACTTAGCACATTTTACATAAATAAATGTTGACTA AGTGTTCTTGGAATTGAAATTGTGGTAAGATTTTACTCCTGGTGTCATTT TACCCCTGTGGGATTCTGCTCCTTCTCTGACCTCAACTTAGCTGTGAATT CT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	390	0.0026	-1451	c.-35 others(11): Show c.-3530_-2080del	TOM1L1	ENSG00000141198.16	transcript	ENST00000575882.6	protein_coding		3516		chr17	TogoVar
D2HGDH_chr2_241729630_241773811	241765256	CTGGGGAG others(1443): Show CTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAC TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAC TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAC TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAC TTGGGGAGATGGGAGCCCCGGGCTGAGGGATTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG GTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAC TTGGGGAGATGGGAGCCCCGGGCTGAGTGAGTAGGAAGAGGGGGGAGAAC TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG GTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAC TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAC TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG T	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02922.hp2 HG03098.hp1 HG01099.hp2 HG02922.hp2 HG03098.hp1	a0004 a0005 a0004 a0005	a0004c0022 a0005c0004 a0004c0022 a0005c0004	a0004c0022t0048 a0005c0004t0023 a0004c0022t0048 a0005c0004t0023	a0004c0022t0048g0210 a0005c0004t0023g0378 a0005c0004t0023g0379 a0004c0022t0048g0210 a0005c0004t0023g0378 a0005c0004t0023g0379	3	410	0.0073	-1450	c.130 others(18): Show c.1307-2255_1307-806del	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241765806	GTGGGGAG others(1443): Show GTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAC TTGGGGAGATGGGAGCCCCGGGCTGAGTGAGTAGGAAGAGGGGGGAGAAC TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG GTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAC TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAC TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAC TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAC TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAC TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG T	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18963.hp2 HG00621.hp1 NA18963.hp2	a0002 a0009 a0002 a0009	a0002c0002 a0009c0014 a0002c0002 a0009c0014	a0002c0002t0001 a0009c0014t0003 a0002c0002t0001 a0009c0014t0003	a0002c0002t0001g0199 a0009c0014t0003g0292 a0002c0002t0001g0199 a0009c0014t0003g0292	2	353	0.0057	-1450	c.130 others(18): Show c.1307-1645_1307-196del	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
NFS1_chr20_35663052_35704352	35684356	AGAGATCG others(1443): Show AGAGATCGCGCCACTGCACTCCAGCCTGGGAGACAGAGCAAGACTCCATC TCAAATAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAGGGCCGGGCATGGTGGCTCACGCCTGGAATCCCAGCAC TTTGGAAGGCTGAAATAGGTGGATCATTTGAGGTCAGGAGTTTGGACCAG CCCAGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATCAGT GGAGCATGGTGGCAGACACCTGTAATCCAAGCTACTTAGGAGGCTGAGGC AGGAGAATCATTTGAACCCAGGTGGCAGAGGTTGCAATGAGCCAAGTTCA CACCACTGCACTCCAGCCTGTGTGACAGAGCAAGACTCCCATCTCAATAA AAAATAAATAAAAAATAAATAAATATAGCTGGGGATGGTGGCTCATACCT ACAATCCTAGCACTTTGGGAGGCTGAGGTCAGAGGACAGCTTGAGCCAAG GAGTTTGAGACCAGCCTTGCAACATAGGGAGACCCTGTCTCTTTTTTCTT CAGATGGAGTCTTGCTCTGTTTCCCAAGGTGGAGTGCAGTGGCGGGGTCT CACTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGGTTCTCCTACCTCAG CCTCCTGAGTAGCCGAGATTATGGGCAGACACCACCACACCCGGCTAATT TTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCAGGCTAGTCT CGAACTCCTGACTTCAGGTGATCCACCCACCTTGGCCCCCAAAGTGCTGG GATTATAGGCATGAGCCACAGCACCTGGCCAAGGGAGACCCTGTCTCTAC AAAAAGAAAAAAGAAAAAAATTAGCTGGGCATCATAGCCTGCGCCTATAG TTCCAGCTACTCAGGAAGGAGGCTGAGGTGGGAGGATCATTTGAGCCTAG GAGGTCAAGGCTGCTGTAAGCCTTGGTGGTTCCAGAGCAAGTTCCTCTCT CATTCATAAATAAATATATAGCCAGGTGTGGTGGCACACATCTCTAGTTC TAGCTGCTTAGGATGCATAGGCACAAGAATCGCTTGAACTTAGAAGGCGG AGACTGCAGTGAGCCGAGGTCATGTCACTGCACTCCAGCCTGGGCAACAG AGCAAGACCATGTCTCATAAAAAAAAATTATATATTATATATATAAAATA TTTTATATATATATATATAGCAGCCGGGCGCAGTGGCTCACGCCTGTAAT CCCAGCATTTTGAGAGGCCGAGACAGGCGGATCACCTGAGGTCAGGCACT TGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACA AAATTAGCCAGGTGTGGTAGCGCATGCCTATAATCCCAGCTACTGAGGAG GCTAAGTCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCGATGAGC T	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01261.hp2 HG02258.hp1 others(5): Show HG01109.hp2 HG01261.hp2 HG02258.hp1 HG02486.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0032 a0001c0001t0001g0033 others(4): Show a0001c0001t0001g0016 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037	8	266	0.0301	-1450	c.562 others(17): Show c.562-3825_562-2376del	NFS1	ENSG00000244005.13	transcript	ENST00000374092.9	protein_coding	5/12			chr20	TogoVar
PSD3_chr8_18522303_19018703	18968756	ATCCCAGC others(1442): Show ATCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCGCTTGAACCCAGGAG GTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTGCAGCCTGCGTG ACAGAGCAAAAAAAAAATGTCTCCAAAAAAAAAAAAAAAAAAAAAAACTC CACCCACAAAAATATAAAGGCCCAACACCACTGGGGATACGTTTTTAAAA TGCAGTGGGGGATATGAAGACAATTCCAAAGAAAAAAGATTTAGTAGCAT GTATTGAGTTATTATAACATCACAGAAATAAGTATATAGCCTTCCAAAGT GTCTACTATGAAAAGGAAAATATTCTTTTAAATCTTTAAATTACAACATA AAACATATTAACTTAATAAACATTTCTTGAGGGGAAGGAGGTAATATTCA GAAATGCCTTCCAGAATGACTTACCTTACTGGAATCTACTTTAATAACAG CTGTAAAGTGCGAAGCAGTCACATCATAACCATACATTCTCTTAAAAATC CCTCTCCCACAAATATTCGTTGACAAAGTGTCCTACAAAGCACATATTGT CTTAATTCAAACCTGAAAATAAGACATCTAAATTTCGATGCAACAGCAGC CAGCAATAAAATGACTATAACATTAGCTTCACGTTCAATTGCATAGAAAT CAACGGTACACCATAAATTTGTGTTAATAACCAGAAAAGTTCTGGGTGAC AGGGGACTCTGTAATGACAGACAATGTATGCATGTTTTAGGCCTTGTTAA AAAAATTATGTTATACCAACAACTTTTTATTAGTGGCCATTTCTAAAGAG AGGTCATATACCTTCTTTGTTTAGCAAAATAATTTAAGACTACATTAATG AAATGCCCTTGATCTTTTGAATGTTCATCTTTAGGTAAATTCAGTATTCA AATTACTATATGGGATGTTTCATAACTATTAGCCTTGGCTATCTTACTCC ACAGACCTGAATTCCTGTAAACATACCTGTAAGTTAAAGTAAACCCAAGG ATCTTTCAAAGTCCAAAAATTCTAGTCACGAGGAGCAAATATTTAGGAGG AAATAATAGTTCCATCATTATGGGTCTGTAGACACAACAGATACATGTTC TCCATATAAATATTTAAAAAAAAATCTCCCCACAAGGGATTTTTTAAAAC AGTGCGCAAAATACCTATAGCTTTAAGAATTTTAAAAGTTTATGTATATT CCTGCTTGCACAGTAAAATTAATAAACACTATCTAGTTTTTTGAAGAAAG AAAGAAACGCTAGGTAAAAGGAAAAACAAGAAACAACCTCGGCCAGGTGC GGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGTTGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATC TCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTAG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0177 a0001c0001t0012g0177	1	226	0.0044	-1449	c.22- others(17): Show c.22-34063_22-32615del	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	1/15			chr8	TogoVar
NOC4L_chr12_132139457_132157468	132148890	ACCTCGGT others(1440): Show ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCA CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGT GAGTGCGGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGC GGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA19009.hp1 NA19056.hp2 HG00609.hp2 NA19009.hp1 NA19056.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0036 a0002c0002 a0005c0036	a0002c0002t0001 a0005c0036t0001 a0002c0002t0001 a0005c0036t0001	a0002c0002t0001g0183 a0002c0002t0001g0184 a0005c0036t0001g0174 a0002c0002t0001g0183 a0002c0002t0001g0184 a0005c0036t0001g0174	3	245	0.0122	-1447	c.901 others(14): Show c.901+62_902-578del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149001	ACTCCTAC others(1440): Show ACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCG CCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGC TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCA CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG	A A	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	206	0.0049	-1447	c.901 others(15): Show c.901+110_902-530del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
ZNF516_chr18_76352682_76500242	76393133	GGGGGGAA others(1440): Show GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAG GGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGT CAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGA AGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGG TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGC CGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGG TCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGT	G G	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0041	a0001c0002t0041g0033 a0001c0002t0041g0033	1	344	0.0029	-1447	c.181 others(21): Show c.1811-14277_1811-12831del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
DPH7_chr9_137549444_137583925	137565308	ACTGTCTG others(1439): Show ACTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCGGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGG TGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCT CCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGG GGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGA AGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	273	0.0037	-1446	c.641 others(16): Show c.641-1600_641-155del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
SSB_chr2_169793871_169817064	169813395	TTGGGATT others(1439): Show TTGGGATTACAGGTGTCAGCCACCACGCCCGGCCTGAAATTCTTTATTTC TAACAAGGAAATCTCAGGGATTTTAATGCTGATGGTCTGAGGGCCACATT TGGAGGAACAAGCCTCTGGCTTGGTATAGTACTGGGACTGTTCTAAGGTG TTCCGTACTGCATATAATACCTAAAACTGGCCGGGCGCGGTGGCTCACAC CTCTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATGACCTGAGGTG AAGAGTTCAAGACCAGCCTGACCAACATTGTGAAACCTCATCTCTACTAA AAATAATAATAATAAAAAAAACAGCTGGACGTGGTGGTGCGCCTGTAGTC CCAGCTAGTTGGGGAGACTGAGGCAGGAGAAGAATCCCTTGAACCCAGGA GGTGGAGGTTGCAGTGAGCCAAGATCGTGCTGCTGCACTCCAGCCTGGGC AACAGAGGGAGACTCCATCTCAAACAACAAAAAAACACCCCTACTGAAAA TAACAGGAAGACGAACAGAAGTGTATATTACATTATTATTATGAACAGTA ATATATCTAGCTGTATGTTTAACACTACAGTGGCAATTCATTGTTAGTTT ATTATTGTGAAAAAACATGTTCCCTTATTGCACTCTTATTTCAGGCTTAG ATTATAATTAGCTTCTAGTTATATGCTTTTCCTGTTTTGATGTTTGTGAC TATTACCCAATTTAGTAATAAAAATGTATCAAACATGATTTACTCATAGA TATTTAGAAGAAAAAGATAAATGTTATTTGATTCCAGGGGTAATTAGAGA ATGAAATTAGAGGCTGGGCTCAGTGGCTCACACCTGTAATCCCAGCACTT TGGGAGGCCGAGGCTGGAGGATCACTGAGGTCAGGAGTTCAAGACCAGCC CTGCCAACGTGGTGAAACCCTGTCTCTACTAAAGATTAAAAAATTAGCCG GGCGTGGTAGTGCATGCCTGTAGTCCCAACTATTTGGGAGACTGAGGCAA GAGCATCGCTTGAACCCGGGAGGTGGAGGTTGCCACTGCACTCCAGCCTG GGTAACAGAGCAAGGCTTTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAT GAAATTAGATTATCTAGGAATAATGTGGTGGCATTTTCTATGAATGAATT TCAAACCAAGATCTGACCAACTCCAAGCCCACTTTTTTTTTTTTTTTTGA GATGGAATCTCACTCTGTTGCTTAGGCTAGAGAGCAGTGGCGCGATCTCA GCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTTCTGCCTCAGC CTCCTGAATAGCTGGGACTACAGGTGCCTGCCACCACACCTGGCTAATTT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTC TCAATTTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	424	0.0024	-1446	c.16 others(11): Show c.1640_*3085del	SSB	ENSG00000138385.16	transcript	ENST00000260956.9	protein_coding		1332		chr2	TogoVar
ATP6V1E1_chr22_17587136_17633749	17596386	GTGAGCAG others(1438): Show GTGAGCAGAGGGTGGGCTGGTATGATAGGGAGTCTGGTTCCCTAGGCTCT CTGGCCTCCTCTCTCGCCATGTGGTCTCTATGCACACACCCACTCCCCTT CCACCTTCTGCCATGAGTGGAAGCAGCCTGAGGCCCTCACCAGATGCAGC TGTCCAATCTTGAACTTTCCAGCCATGAGAATCATGAACCAAATAAACCT CTTTTCTCCATGAATTACCCAGCCTCGGGTATTCTGTTATAGCAACACTA AATGGACGACACCACTCAATGAAACTGAATAAACGAGTCCAAGATTACCC AGGTAGTAAGTGGCAGAATCAGGAATCTAACCCAACTCTGACAGCATATC TTATGAGTTTATATACTTTTTCCATTTACAGAGCATTTTCACATGTACTA TCTCATCTTTTTTTCTTCACTGCATGAAACAAAAAAGCAAAAAGCAATGA TCCTATTTTACATATGATGAATTCAGTCTCCAGGTCCCATAGTAGCAAAA GGCCAAGATAGGACTCAAATCTAGGTCTTACATTCCTAAGTGTGATAATC AGCTAACTTCAAAATGTGTCCAAGGCACCAGGCATGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGCGGGCAGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATAC AAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCA GGAGGCTAAGGCAGGAAAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGT GAGCCAAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTGAGACTG CCTGTCTTAAAAAAAAAAAAAAAGTGTCCAAGGTACTTTCTTCAATGTTA GTCAGTAGTGTGGCTAGGTGGCCTCAGACAGGCCAGTGAAATCGAGAAAA TGACACTGGCTCTCCCCTTGTCAGGAGTTTCTACTGCCTACCCCAGCTAC ACAAAGCTTGTTAGGAACACTGATCCCAGAAATGTTCTGTCATTTCCTCA CAGTCATAAAAATACCACTCATACTTGCAATTCTATCTCTAAGGAACCTA ACTACCAGGCATACACAATTCTTGTTTTGATAACTATTACTTAGAAGAAG GGAGTATCTACCTCAGCATCCAATACAGAGATCTGGTCCTAGCTTTCATT CTGGGGGCCACCTCCCCGCAGAAGGAAAGCAGTGACCATAAACCAGACTT TTTTTTTTCTGAGATGCAGTCTTGCTCTGTCGCCATACTGGAGTCCAGTG AGTGGCGTGTTCTTGGCTCGCTACAACCTCCACCTCCTGGATTCAAGCAA TTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGACTACAGGCGTGCGCCACC ACGCTCAGCTAATTTTTGTATTTTTAGTAGAGACAGGACTGGACTA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02451.hp1 HG02717.hp1 others(2): Show HG01192.hp1 HG02451.hp1 HG02717.hp1 HG02809.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 others(2): Show a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0003g0196 a0001c0001t0003g0225	5	368	0.0136	-1445	c.530 others(16): Show c.530+363_531-1771del	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding	7/8			chr22	TogoVar
EXOC2_chr6_480154_698139	666376	AAATGATT others(1438): Show AAATGATTCAAATGTTACTTATGTTTACAACAGGAATTTCAAAAACTGGT CAGCATCCCTTCCAGAAAATTTCCAGAAAATTTAGGTCTATTAAATTAAC ATTATTATTTAGAATTGGGAAACTTGGTGCTTTACTGTTTTGTTTTGGCA CTTTACAACTTTTTTTTCTGAGCAGTTTTATTAAGTTTACAGAAAAATTA AATCAAAATTAGAGTTTCCATATACCCCTTCACTACCACTCCCTCCTGTT TCCTCTGTTATTAACATCTTGCATTAGTGTGGCACAGCTGTTACAACTGA GGAGCCAATACTGATATACTATTAAGTAAGTTCCATAGTTTACACTGGGG CTCTTTGTGTGGTACATTCTATGAGTTTTGACAAATGTATAACTTATCAT TACATGTATCCAACATTACAGTATCATACTGAATACTTTCACTGCCTTAA AAGTCCCATTTTCCCTCTTCTCTTAGCATGGCAATTATGTTCTTTTTTTT TTAATTTTTTTTTCAGTGGCTATCTTAGAGTTTGCAATATGCATTTACAA CTAAACCAAGTTCACTCTCAAATAACACTTTCCCATTCATGGATAGTGGA AGTACCTTATAACAAAGTATTCCCACTTTCTTCTTCTCATCCCTTACAAC ACTGGTGTCATTCATTTTAATTATCTATAAGCTATAATCACCGTAAGTTT TGTTGCTGTTATTCTTCAGAACAAACAGTTGTCTGTCAGATCAATTAATA AGAAAAACTAAAAACTGTATTTTACCTTCATTCATCTATAATGCTCCTCC TTTCTTCATGTAGATCTGAGTTTCTAATCTACATCATTATCACTGTTGTT TTTTGATGAATATCTTTTAGTGTTTCTTACAAGGAAGGTTTACTGGTAAC AAATTTCCTCAACTTTTGTTTATCTGAGAAAGTATTTCTCATTCGCTTCT GAAGGGTAATTTCATTTGTATACAGGATTTGACAGTGGTAAGTGTGATGA CTGGAAGAAGAGATACCCAGACAGCTGAGCTGGTAAAGCATTATTTCTGG GTGTGTCTGTGAGGGTGTTTGGGGAAGTAACTGGCATTTGAATCAGTGGA CCAAGTAAGAAAGCTCTGTTGTCACCCATTGTGAGCAGGCACCACAAAGC CGCTGAGGGTCTTGATCAAAGAAAAAGGCAGAGAAAAGGCAAATTCTCTC CTTTTTGGAACTGGGACACCCATCTTTTCCTGCTCTTGAATCACCAGAAT GCCACGGTCTTCTGAGCTTTGGATTCCCAGGCTTATACCAGTGACCCCTG CCCCCCAGGTTCTGAGGCCTTTGGCCTCAGACTGAGAGATACACTGCGGG CTCCCCTGGTTGAGGCCTTCAAACTTAGACTGAGCCATGCTACTGGCTTC TCTGATTCTGTGGCTTGCCGACGCCTGTCATGGGACTTCTCAGCCT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(139): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG01081.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01517.hp1 HG01884.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02622.hp2 HG02630.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18942.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18992.hp1 NA18992.hp2 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19072.hp1 NA19074.hp2 NA19077.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0010 a0001c0011 a0001c0015 a0001c0017 a0002c0005 a0006c0012 a0007c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0026 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0010 a0001c0002t0012 a0001c0002t0020 a0001c0002t0021 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0007 a0001c0003t0009 a0001c0003t0016 a0001c0003t0017 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0007t0002 a0001c0010t0002 a0001c0011t0008 a0001c0015t0003 a0001c0017t0005 a0002c0005t0002 a0006c0012t0001 a0007c0023t0002	a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 others(139): Show a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0151 a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0049 a0001c0001t0002g0104 a0001c0001t0003g0005 a0001c0001t0003g0028 a0001c0001t0003g0039 a0001c0001t0003g0042 a0001c0001t0003g0045 a0001c0001t0003g0074 a0001c0001t0003g0084 a0001c0001t0003g0111 a0001c0001t0003g0117 a0001c0001t0003g0122 a0001c0001t0003g0137 a0001c0001t0004g0011 a0001c0001t0004g0050 a0001c0001t0004g0076 a0001c0001t0004g0081 a0001c0001t0004g0087 a0001c0001t0004g0101 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0143 a0001c0001t0005g0024 a0001c0001t0005g0027 a0001c0001t0005g0075 a0001c0001t0005g0088 a0001c0001t0005g0089 a0001c0001t0005g0091 a0001c0001t0006g0033 a0001c0001t0006g0093 a0001c0001t0006g0115 a0001c0001t0006g0129 a0001c0001t0007g0150 a0001c0001t0009g0103 a0001c0001t0009g0112 a0001c0001t0015g0019 a0001c0001t0018g0083 a0001c0001t0019g0090 a0001c0001t0026g0269 a0001c0002t0001g0008 a0001c0002t0001g0030 a0001c0002t0001g0052 a0001c0002t0001g0058 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0073 a0001c0002t0001g0099 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0139 a0001c0002t0002g0031 a0001c0002t0002g0041 a0001c0002t0002g0060 a0001c0002t0002g0071 a0001c0002t0002g0118 a0001c0002t0003g0054 a0001c0002t0004g0009 a0001c0002t0004g0018 a0001c0002t0004g0022 a0001c0002t0004g0070 a0001c0002t0005g0023 a0001c0002t0006g0132 a0001c0002t0010g0035 a0001c0002t0010g0053 a0001c0002t0012g0055 a0001c0002t0012g0056 a0001c0002t0020g0036 a0001c0002t0021g0037 a0001c0003t0001g0038 a0001c0003t0001g0062 a0001c0003t0002g0020 a0001c0003t0002g0063 a0001c0003t0002g0155 a0001c0003t0003g0012 a0001c0003t0007g0157 a0001c0003t0009g0149 a0001c0003t0016g0029 a0001c0003t0017g0193 a0001c0004t0002g0156 a0001c0004t0003g0079 a0001c0004t0003g0116 a0001c0004t0004g0006 a0001c0007t0002g0123 a0001c0010t0002g0264 a0001c0010t0002g0265 a0001c0011t0008g0154 a0001c0015t0003g0048 a0001c0017t0005g0082 a0002c0005t0002g0097 a0006c0012t0001g0094 a0007c0023t0002g0046	142	270	0.5259	-1445	c.-44 others(19): Show c.-44+25198_-44+26642del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27			chr6	TogoVar
FBN3_chr19_8060402_8154592	8092083	TAGGAGAA others(1438): Show TAGGAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGCTC ATACCACTGCACTTGAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAA AAAAAAACCAAAAAACTAAAAGTAGAACTACCATTCAATCCAGCAATCCT ACTACTGGGTATCTACCCAAAGGAAAGTAAGTCATTATATGAAAAAGACA CACGCACATGCATGTTTATAGCAACACAATTCACAATCGCAAAAATCTGG AGCCATCATATTTATAAATGCCCATCAGCCAACGAGTAGATAAAGAAAAT GTGGTATATAATACACCATGGAATACTACTCAGCCACAAAATGGAACGAA ATAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGG CTGGTGGATCACTTGAGATCAGGAGCTGGAGACCAGCTTGGCCAACATGG TGAAACCCTGTCTCTACTGAAAATACAGAAATTAGCTGGGCATTGTGGCG GGGCGCACCTGTAATCCCAGCTACCAGGAGGGTGAGGCAGGAGAATCGCT TGAACCCGGGAGGTGGATATTGCAGTGAGCTGAGACTGTGCCACTCCAGT CTGGGTGACAGAGTGAGACTCCACCAAAAAAAAAAAAAAAAAAAAAAAAA AGGAACAAAATAATGTCCTTTGCAGCAACTTGGATGGGGCTGGAGGCCGT TATTCTAAGTGAAGTAACTCAGGAATGGAAAACCAAATATCGTATGTTCT CACTTATAAGTGGGAGCTAATCTATGAGGATGCAAAGGCATAATAATGAT ATAAAGGACTTTGGGGACCCCCAGGGAAGGATGGGAGGGGGGTGAGGGAT AAAAGACTACATACTGGGTACAGTGTATACTACTTAGGTGACAGGTGCAC CAAAATCTCAGAAATCACCACTGAAGAACTTATCCATGTAACCAAAAACC ACCTGTTCCCCCATAACTATTGAAATTAAAATAAGAAAAAATAGAAAAAA AAAATTTAAACCTTAAAAAAAGAAAATTGCACAAAGCTAACTGAGACTGG ATATATTTACCCTACACCGGACAGGGTTAACTCATGTTGTACTAAGCTAG CCCAAATAGAATAGATCAGAATAGGCCGGGCATGGTGACTCATGCCTGCA ATCCCAGCACTTTGGTAGGCTGAGGTGGGAGGATCGCTTGAGGTCAGGAG TTTGACACCAGCCTGGCCATCATGGTGAAACCCCGTTTCTACTAAAAATA CAAAAATTGGGCCTGGCGCAATGGCTCATGCCTGTAATCCCAGCACTTTG GGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGAGAGCATCCTGG CTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATAGCCGGG CATGGTGGCGGGCGCCTGTAGTCCCAGCTATTTGGGAGGTTGAGGC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02040.hp1 HG02129.hp1 others(7): Show HG00544.hp2 HG02040.hp1 HG02129.hp1 NA18940.hp2 NA18944.hp1 NA18947.hp1 NA18969.hp1 NA19002.hp2 NA19088.hp1 NA19091.hp2	a0005 a0017 a0018 others(2): Show a0005 a0017 a0018 a0029 a0155	a0005c0005 a0005c0176 a0017c0023 others(4): Show a0005c0005 a0005c0176 a0017c0023 a0018c0099 a0018c0201 a0029c0037 a0155c0178	a0005c0005t0002 a0005c0176t0002 a0017c0023t0001 others(4): Show a0005c0005t0002 a0005c0176t0002 a0017c0023t0001 a0018c0099t0001 a0018c0201t0001 a0029c0037t0002 a0155c0178t0002	a0005c0005t0002g0138 a0005c0005t0002g0147 a0005c0005t0002g0148 others(7): Show a0005c0005t0002g0138 a0005c0005t0002g0147 a0005c0005t0002g0148 a0005c0005t0002g0149 a0005c0176t0002g0150 a0017c0023t0001g0144 a0018c0099t0001g0086 a0018c0201t0001g0182 a0029c0037t0002g0060 a0155c0178t0002g0162	10	378	0.0265	-1445	c.590 others(17): Show c.5905+918_5906-494del	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	47/63			chr19	TogoVar
DDX51_chr12_132131594_132149319	132134862	CCCGAGTG others(1436): Show CCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCG GTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTC CCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCTCCGAGTG TGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCC ACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCC CGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGG TGCCCGCTCCTCCCACCTCCCGAGTATGCCCCGGTGCCCGCTCCTCCCAC CTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCC CACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCC TCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTG TGCCCACGGTGCCCGCTACCTCCCACCTCCCCGAGTGTGCCCACGGTGCC CGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACC TCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCC ACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTC CCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGT GCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCG CTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCC CCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGG TGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCAC CTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCA CGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCC CACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGC CCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCT CCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCGA GTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTG CCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCAC CTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCC CCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCT CCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0010 a0008c0010t0010	a0008c0010t0010g0014 a0008c0010t0010g0014	1	324	0.0031	-1443	c.29 others(11): Show c.2967_*4409del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1731		chr12	TogoVar
DHRS12_chr13_51762993_51809163	51774698	AGTATTCT others(1436): Show AGTATTCTACTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTA TTCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACA GTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTCCTAC ATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTA CAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTA CATGTATTCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTCCT ACAGTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATG TATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAG TATTCTCCTACATGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCT ACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAGTATTCTCCT ACATGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTAC AGTATTCTACTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTA TTCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACA GTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTCCTAC ATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTA CAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTA CATGTATTCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTCCT ACAGTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATG TATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAG TATTCTCCTACATGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCT ACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAGTATTCTCCT ACATGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTAC AGTATTCTCCTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTA TTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTA TTCTCCTACATGTATTCTACAGTATTCTCCTACATGTACTCTACAGTATT CTCCTACATGTATTCTACAGTATTCTCCTACAGTATTCTCCTACATGTAT TCTACAGTATTCTCCTACATGTATTCTCCTACATGTATTCTACAGTATTC TCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTCCTACATGTAT TCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAT	A A	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0288 a0001c0001t0002g0288	1	395	0.0025	-1443	c.363 others(15): Show c.363+919_364-665del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
TMEM176B_chr7_150786301_150805364	150787283	AAGCTCAG others(1436): Show AAGCTCAGGATTATGAGCCGAGAAACTGTGACATCTTCCCTCGCCTCCAG TCTGGACCAGGTGTGTCCGCATGCCACCTGCTCTGCTAGTGCCAACAGGT CAGCACTGTGCCATCCCATGGGGAGTGTGACCTGCACAGAGAATCCCGTG CTCTGCCCCCAAAGCCCTCATGATTATAGAGAACAGAGTAGAGTTTCTAC TGCTCCTTCATTATCCCTGGCCAGGCTCTCCCTCCTTCACCTCATTCTGC TCCAGTGACACATCCCAAGGAACAGACATGCCCAGTTTGAAACAGGGCAG CTCCTGCAAAGCCCCACTCTGGGGTAGCAGAGTCATCTGCCTTACGTGGA AACAGAAAGAAAAGGTCCCAGAACAGAGTGGCAGGGCCTTGCTTTAGGGC AGAGAGGACATTCAGCAGGAGCTGCAAATGTCAGCACCCAAGGTCATCAG GACAAGATAACGAACAGACTTAAGTGGCCCCAGATTTCCAAGTATTTCTA CTTCCTCTTTTTGACCATATAGCTGGGCCCTTGATAGAAGGACATTTCAG AAGCCTCTCTCGGCCTCAGACAGTTTTGGCTGATATCCAAAGCAGAAAGC AGAAGCTGCTCTTTCTGGCTTGTTAACGTCTGAGCTCCCGGAAGAGATTA TACCAGAAAAGCCTAGGAGATTTACTGGAAATTATACTAGAGGAGACTGT GCTAGAAATGCCTGTGATTATAGAGATTATGCTAGAAGAGATGTTGTGAA GACAAAGGGGGTGGGGTGCCCCTCAGGCGGCACTTAGGGAGTGGGGAGCT GTCCTGGAGACCCTGAGGAGTCAGATGTGGAGGGAGAGGAGAGGCTGGTG GGACCAGGCAACAGAGGGCGATGGTGGCCTGAGGATGTGATGAGACCTCA GGGTGATATGCCAGGAACACCAGCTCCTGGGAACTGCAGCTTTCAGCTGT GGCAAAGGCAGGTGTGGTCCCACACCATGAGAGGCACCCCTTTATGGGGA ACCCGGAGGGCTGCACAAAGGGCTCCTCAATAGTAAACAAGGAAGGGATT TTGAAAACGCAGTGCTGGGGCACACCTGATCCCCCTCTCAGGCTGTCCCA AGCTGTCTCCCGTCTCCCAGTGTCTGAGTTTGCTAGGGCTGCCGTAACAA AACACCGACTGAGGGGCTTAAACAGGAGAAATTTCTTTTCTCTCAGTTCT GGAAGGCCAAAGTCCAAGATTTGGCACCAGCGGAGTTCCTCTGAGGCTCT CCTTGGCTAGTAGATGCCGTCTTCTCCCTGTGTCCTCAGGTGGCCTTCCC TCTGGGCCTGTCGGCATTCTGATTGCCTCTAATATGACATCAGACATATT GGATGAGGGCCCACCACAATGATCTCATTTTAACTTAATTACCTCTTTCA AGACACTGTCTCCAAATACAGTCACATCCTGAGCTACTAGGGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp2 NA19043.hp1 HG02895.hp1 HG02897.hp2 NA19043.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0003 a0004c0004t0001 a0004c0004t0003	a0004c0004t0001g0055 a0004c0004t0003g0242 a0004c0004t0001g0055 a0004c0004t0003g0242	3	474	0.0063	-1443	c.28 others(11): Show c.2805_*4247del	TMEM176B	ENSG00000106565.19	transcript	ENST00000326442.10	protein_coding		4017		chr7	TogoVar
CNN2_chr19_1021608_1044065	1033671	CGGGAGCG others(1433): Show CGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTG GGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGT GTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCG TGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTG TCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGG AGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGAC GGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAG ACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTG GGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGT GTAGACCGGGAGCGTGGGTGGGACACATTGTCTGGTGTAGACCGGGAGCG TGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTG TCTGGTGTAGACGGTAAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCG GGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGAC ACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGT AGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGG TGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTG GTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAG CGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGG TGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCG GCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGG ACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGT AGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGG TGGGACACATTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTG GTGTAGACCGGGAGCATGGGTGGGACACGGTGTCTGGTGTAGACGGTAAG CGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGG TGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGAC CGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGG ACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGT ATACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACG	C C	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	388	0.0026	-1440	c.390 others(16): Show c.390+1011_391-984del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932445	GAGAGGAA others(1433): Show GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGTGGGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGCAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGCAGAGGAATGAGTGAGCGAGA	G G	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0030 a0002c0001t0030	a0002c0001t0030g0177 a0002c0001t0030g0177	1	335	0.0030	-1440	c.198 others(16): Show c.198+326_198+1765del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932465	GAGAGGAA others(1433): Show GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGGG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGCAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG CAGAGGAATGAGTGAGCGAGAAGAGGAATGAGTGAGTGGGC	G G	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02630.hp2 NA18522.hp1 HG01981.hp1 HG02630.hp2 NA18522.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0004 a0002c0001 a0004c0007 a0001c0004 a0002c0001 a0004c0007	a0001c0004t0027 a0002c0001t0030 a0004c0007t0149 a0001c0004t0027 a0002c0001t0030 a0004c0007t0149	a0001c0004t0027g0214 a0002c0001t0030g0132 a0004c0007t0149g0207 a0001c0004t0027g0214 a0002c0001t0030g0132 a0004c0007t0149g0207	3	338	0.0089	-1440	c.198 others(16): Show c.198+306_198+1745del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DOC2B_chr17_137789_186650	166781	CATGGTCT others(1433): Show CATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCA TGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATG GTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGT CTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCT GACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGA CACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACA CTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACT GTTCTTGAGGTAGTGAATACGTCTCACGAGATCTGATGGTCTGACACTGT TCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTC TTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTT GAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGA GGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGG TAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTA GTGAATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGT GAATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGA ATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAAT ACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATAC GTCTCACGAGATCTGATGGTCTGACACTGTTCTTGAGGTAGTGAATACGT CTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCT CACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCA CGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACG AGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAG ATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGAT CTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCT CATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCA TGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATG GTCTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGT CTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCT GACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02895.hp1 HG03098.hp1 others(1): Show HG02257.hp2 HG02895.hp1 HG03098.hp1 HG03540.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0012 a0002c0006t0012	a0002c0006t0012g0025 a0002c0006t0012g0257 a0002c0006t0012g0284 a0002c0006t0012g0025 a0002c0006t0012g0257 a0002c0006t0012g0284	4	336	0.0119	-1440	c.454 others(17): Show c.454-4017_454-2578del	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739703	GTGAGGGT others(1433): Show GTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGG GAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGTGGCCTGATGC AGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGCGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAG GCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCA GGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACA GTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCACAGGACAGTGAGGGTGG GAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGC AGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAG GAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCC GGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACA GTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTCAGGGTGG GAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGC AGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGA GTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAG GCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGCC GGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACA GTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGCCGGACAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0004 a0003c0003t0001g0004	1	444	0.0023	-1440	c.-32 others(11): Show c.-3209_-1770del	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3167		chr17	TogoVar
SMYD3_chr1_245744347_246512279	245974605	CAGGGAAA others(1433): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCTGGCCTAGGGAAAGCCATCGT CTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCT AGCCTAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTGGCCTAGGGAAAGC CATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCT CCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCC GGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCC TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCATCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCTAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAA GCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	142	0.0070	-1440	c.532 others(19): Show c.532-46108_532-44669del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
WDR81_chr17_1719704_1743585	1739703	GTGAGGGT others(1433): Show GTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGG GAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGTGGCCTGATGC AGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGCGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAG GCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCA GGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACA GTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCACAGGACAGTGAGGGTGG GAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGC AGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAG GAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCC GGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACA GTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTCAGGGTGG GAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGC AGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGA GTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAG GCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGCC GGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACA GTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGCCGGACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG01123.hp2 HG00423.hp1 HG01123.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0003	2	430	0.0047	-1440	c.20 others(11): Show c.2019_*3458del	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		1119		chr17	TogoVar
DHRS4L2_chr14_23983929_24011403	24009964	CAATAGAA others(1432): Show CAATAGAATCTAATAATTCAGTTCAAGGGAAGGTACTATGACTGGACATG CACGTAAGCCAGATTTATGTTTCTCTCCACCCAAACATCTCGGTGGAGTA AAGAATAACGAGGCAGCATTGCTGCAAACATGTCTCGCCTCCCACCATAG GGCGGTTTTTCTCTCATCTCAGAACTGAACAAATGTACAATCGGGATTTA TACCGAGACTTTTAGTTCCCAGGAGCAGGCAGGAGACAGTGGCCTTCCTC TATCTCAACTGCAAGAGGCCTTCCTTTTTTACTAACCCACCGCAGCACAG ACCCTTTATGGGTGTCGGGCTGGGGGACAGTCAGGTCTTTCTCATCCCAG GAGGCCATATTTCAGACTATCACATGGGGAGAAACCTTGGACAATACCCT GCTTTCAAGGGCAGAGGTCCCTGCGGCTTTCTGCAGTGCACTGTGCCCCT GGTTTATTGAGACTAGAGAATGGCGATGACTTTTACCAAGTATACTGCTT GTAAACATTTTGTTAACAAGGCACGTCCTACACAGTCCTAGATCCCTTAA ACCTTGATTTCATACAACACATGTTCTTGTGAGCTCCAGGTTGGGTCAAA GTGGTTGGGTCAAAGTGGCTGGGGCAAAGCTAAAAATTAACAACATCTCA GAAAAGCAATTATTTAAAGTACAGGTCTTTTTCAAAATGTAGTCTCTTAT GTCTTCCCTTTCTACATAGACACGGTAACAGTCTGATCTCTCTTTCTTTT CCCTACATATCCCCCTTTTCTTTTTGACAAAACTGTCATTGTCACCATGG CCTGTTTTTGCTGGTCACTGTCTTTCTGGAACTGCTGGATACACCTGTAG ACTAACAATAGAGAGGGCAGACATACAAGGATTAATACAAAATTTGCAAT AGTGGAATTTCCAATGGTTTTAACCCAAGTGATGGGGGCAAGAGGACAGT GTGGGTGCTCCGGCACCCAGGCAGTCTCCCTTCTCCTTTGTCTCTTAGTT GTTGTTTCTCATAGTTTTCAATCTTTCTCCTCACCTGCTCACTCGCACTT TTTGTTTCATTGTCTCCCTTCTCTTATGGTCTCTCTCTCTTTTTCTCTTT TTCTTCCTTTTACACTATTTCTTTTCCCAGTCTCACTTTCTGTGTCTCTC TCTGATCTCTGTCTTTCTCTTTTACATTATTTTTTTCCCCAGTCTCACCT TCTGTGTCTTTCTCTGATCTCTGTCTTTTCCAGTCTCTCTCTTACTCATT TTCTCCCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCATCCCGT GTCCTCTCTCCTTCACACTCAGTCTCTTTTTCTTTTTCTTTTTCTCCCTG GCTCTCCACATCTGCCGTTTTCTCTCCTTTCTCTTTCTGATTTCTCTTCT CACTTTCTCTCTTCCTTTCTTTCCCAGTTTCTCTTTTTTC	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00642.hp1 others(26): Show HG00140.hp1 HG00140.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01256.hp1 HG01256.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02080.hp1 HG02080.hp2 HG02683.hp1 HG02683.hp2 HG03710.hp1 HG03710.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0005t0001 a0002c0002t0001 a0002c0002t0003 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(24): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0002g0017 a0001c0001t0005g0011 a0001c0005t0001g0013 a0002c0002t0001g0004 a0002c0002t0003g0005 a0003c0004t0001g0006	29	30	0.9667	-1439	c.41 others(11): Show c.4102_*5540del	DHRS4L2	ENSG00000187630.18	transcript	ENST00000335125.11	protein_coding		3562		chr14	TogoVar
P2RX5_chr17_3668227_3701155	3685659	CCAGCCTG others(1432): Show CCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCA ACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAG GGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAAC ACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCCGCCC AGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAAC GTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGGCC CCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGC ACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGC CTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTC CCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCC AGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACA GCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTC AGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCC CTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTC CCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCG GGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGA ACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGC CCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGAC CCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACAC AGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCT CAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCC CCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCT CCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGC GGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAG AACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAGGGA CCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCA CAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAAC AGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACG	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA18969.hp1 HG03688.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0100 a0001c0001t0001g0087 a0001c0001t0001g0100	2	220	0.0091	-1439	c.981 others(16): Show c.981+914_981+2352del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
LRFN5_chr14_41601876_41909549	41740991	AATTAAAT others(1429): Show AATTAAATATTTAGGAATACATTTAACTGAAGAGGTGAATGATTGACTAT GATGAAAACTATAATAGGTGAAAGAAGTTGAAAAACACACAATATAAAGA TAACTCATGTTCATAGGTTGAAAAATTTACTATTTTAAAAACATACATAG TACTCAAAGCAACCTGCAGATTCAATGCAATCTCTATCAGAATTCCAATT TGTTTTTCACAGAAATAGAATAAAAGTCTAATAGAAAAAAATCCTTGAAT AGCTGAAGCAATTGAGCAAAAAGAATGAAGTAGGAGGTATCAAATTTCCT GATTTCAAAATAGATTATAAAGCAATTGTAGTCAAAACAGCATGATACTG GCATGAAAGAAGATATATTGATGAATGGAAAAGAATAGAAAGCACAGAAG CAAACCTGACTATTTAAGGTCAATTGATTTTCCACAAAGATAAACACAAT GAAGAAAAGACAATCACTTCAATAAATGGTGTTGACAAAACTTTATATCC ACATTCAGAAGCATGAAATTGGATCTTTCTGACACACCATATATGAGAAT TAATTCAAAACGGACAAAAGACCAATATGAAAGACTGAATCAATAAATCT ACTAGAAGAAAATGTAGGGTAAAAGCTTCATAATTTTGGTCTGGGCAAGG ATTTCTGGGATGGAACTTCAAAAGCACAGATAAGAAAAGCAAAAATAGAC AGAGGATATTGCATCTAACTAAAAAGCTTTGATGCAGCAAAGACAACAAT TTACATAGTGGAGAGATAGCCCACAAATTTAGGTAAAATATTTTTAAACC ATACATATGGTAAGGGGCTAAAATAAAAAAAAAAAACCAAAAAACTAATT TAGTAATAGACAAAGAATCTGAACAGATATTTCTCCAAAGAAGACATGTG AATGACCAACAGATATATGAAAAAATCCTCAATGTCTCTAATCATCAGGG AAATGAAAATTGAAACCACAATGAGATATCACCTCACACCCATTAAAATG GCTATTACAAAAATTGATAAGTGTTGGTGAGATAACAAGTGTTGGCAAGA AATGGACCCTTTGTACACTGTTGGGGCCAATGTAAATTAATACAATCATT TTGCAAAATAGTATGGAGATTTTCCAAGAACTAAAAGTAGATTCCATATG ACCCCAAAAATGTTACTTTTGGATATATAGCCAATGAATCTGAAATCAGC ATGTGAACGAGATACCTGTACTTTCATGTTTATTTCAGAATTAGTCACAG TAGCCAAGATATAGAAGCAATAGAAGCAACCTGGTTTTATTAAAAGATTA ATGAAGAAAATGTGGTGTGTATACACACACACACACACACACACACACAC ACACACTAGAATAATATACAGCCATAAAAATAAGGAAATTTTTTTCATTC ACAACATGGCTGGAACTGGAGGAATTTATACTAAGTG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01256.hp1 HG01928.hp1 others(10): Show HG00741.hp2 HG01256.hp1 HG01928.hp1 HG02293.hp1 HG02300.hp2 NA18942.hp1 NA18954.hp1 NA18974.hp2 NA18983.hp1 NA18995.hp2 NA18999.hp2 NA19057.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0003g0251 others(10): Show a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0003g0251 a0001c0002t0003g0252 a0001c0002t0003g0253 a0001c0002t0003g0254 a0001c0002t0003g0255 a0001c0002t0003g0257 a0001c0002t0003g0258 a0001c0002t0003g0259 a0001c0002t0003g0260 a0001c0002t0003g0261 a0001c0002t0003g0262	13	278	0.0468	-1436	c.-19 others(21): Show c.-196-25861_-196-24426del	LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
PLEKHA6_chr1_204213853_204364929	204346274	CCTCGATT others(1429): Show CCTCGATTATACCTAGAGCAGCTGACAGGCCCTCTCTGTATGCATGGGAA CATGAGAGCAGCAAACACTCTCACTCTCACCCCCCTAGAGGAGGCAGCAT CTACCACCTGCCTCTTCCAGAACACGGGTCTGGGCACCTGAGGGTGGCCA GCCGGGCAGCTCTGAGCCACCACAAATGAGCCATGACCACAGGGGAAGCC ATGACAAAGTGGAGTCAAATAAATAACCACATCCCCCACACCTCCATTTC TCTTACTGGTTAATACACACCCACACTCACAGTTGGGTCACACGAGGGGC AAGAAGATGGCTCGGCAGGAAACATGGAAACATCCATAAATTCTAATTCT GATTCCTCCCTCACTTCCCAATGTGGCCATGGGTAAGTGACCCATCACCT CAGAAACAGACTCTTTGTATTCTCTTTCCCAGGGATGTTCCTTGCTGAGA AAAAGAATTCAGCGATATTTCTCCCATTTGCTTTTTTTTTTTTTAACACC TATTATGCCATGAATTCATAGGGAATAGGTTCCAGCAGCTCAGGCTCCTT CCCATTGGTTCTCACAAAGTGTGCTTCTCTGGGTGGAGCAGGCTGGCGCT TTAGTTGAATCCAGGTAACTTTCTCTTTGGCTTCTTTCTTTTTCTGATCA TTTTCCTTCACACGTTTCAGGAAGCTATCTCGGCTCTTAGAGTGCTTAAT GTGCTCAATACGCACATTAATTCTCTTGGCAAGAATCTTGCCTTTAACTT GTTTGTTTACAACAATGCCAACAGCATGCTGGGTAACATTGTAGACTCTT CCAGTTTTGCCGTGGTAACGCGTGTGGGGCATTCCTTTTTGAACAGTACC CATTCCCTTGATGTCTACAATATCACCTTTCTTATAGACTCGCATATACG TGGCCAAAGGAACAACTCCATGTTTTCTAAAAGGCCTAGAGAACATACAT CGGGTGCCTCTCCTCTTTCCCTTTGTATTCGTCATTTTGGCGAATTACTG GAAGATGGCAGTTATGGCCGAAAGGCTCCCATTTGCTTTTGAAAGAAGAG AAATATGGCTCTGTTCTGCCTGGCTCACTGGCTGTCAGAGTTTAAGGTGA TCTCTCTTGTTCCCTAAACACTGCTGTTATCCTGTTCTTTTTTCAAGGTG CCCAGATTTCATATTGTTTAAACACACATGCTCTACAATTTGTGCAGTTA ACGCAATTATCACTGGGTCCTGAGGTGACATACATCCTCCTCGGCTTACG AGATGACAGGATTAAGAGATTAAAGTAAAGACAGGCATAGGAAATCACAA GGGTATTGATTGGGGAAGCGATAAGTGTCCATGAAATCTTCACAATTTAT GTTTAGAGATTGCAGTAAAGACAGGCATAAGAAATTATAAAAGTATTAAT TTGGGGAACTAATAAATGTCCATGAAATCTTCACAAA	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02523.hp2 NA19085.hp1 HG02015.hp2 HG02523.hp2 NA19085.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0015 a0001c0001 a0003c0015	a0001c0001t0002 a0003c0015t0001 a0001c0001t0002 a0003c0015t0001	a0001c0001t0002g0058 a0001c0001t0002g0116 a0003c0015t0001g0117 a0001c0001t0002g0058 a0001c0001t0002g0116 a0003c0015t0001g0117	3	268	0.0112	-1436	c.-95 others(19): Show c.-95+11984_-95+13419del	PLEKHA6	ENSG00000143850.16	transcript	ENST00000272203.8	protein_coding	1/22			chr1	TogoVar
CCDC127_chr5_191868_223153	211588	CGAGACAG others(1427): Show CGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCAGTGT GAGCACACTGATGCTCGACATCGCACACTGCAGCCACGACGAGACAGCAC CACACACCCATCAGGATGGGGCAGACGGGACAGCAGTGTGAGCACGCTGA TGCTCGACATCGCACACTGCAGCCACGATGAGACAGCACCACACACCCAT CAGGATGGGGCAGACGGGACAGCAATGTGAGCACGCTGAGATGCTCGACA TCGCACACTGCAGCCACGACGAGACAGCACCACACACCCATCAGGATGGG GCAGACGGGACAGCAGTGTGAGCACACTGATGCTCGACATCGCACACTGC AGCCACGACGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGAC AGCAGTGTGAGCACACTGATGCTCGACATCGCACACTGCAGCCACGACGA GACAGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCAATGTGAG CACGCTGATGCTCGACATCGCACACTGCAGCCACGATGAGACAGCACCAC ACACCCATCAGGATGGGGCAGACGGGACAGCAGTGTGAGCACGCTGATGC TCGACATCACACACTGCAGCCACGATGAGACAGCACCACACACCCATCAC GATGGGGCAGACGGGACAGCAGTGTGAGCACGCTGATGCTCGACATCGAA TACTGCAGCCACGATGAGACAGCACCACACACCCATCACGATGGGGCAGA CGGGACAGCAATGTGAGCACGCTGATGCTCGACATCGCACACTGCAGCCA TGACGAGACAGCACCACACACCCATCATGATGGGGCAGACTGGACAGCAA TGTGAGCACGCTGAGATGCTCGACATTGCACACTGCAGCCACGATGAGAC AGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCAATGTGAGCAC GCTGAGATGCTCGACATTGCACACTGCAGCCACGACGAGACAGCACCACA CACCCATCAGGATGGGGCAGACGGGACAGCAGTGTGAGCACGCTGATGCT TGACATCGCACACTGCAGCCACGATGAGACAGCACCACACACCCATCAGG ATGGGGCAGACGGGACAGCAGTGTGAGCACGCTGATGCTCGACATCGCAC ACTGCAGCCACGATGAGACAGCACCACACACCCATCAGGATGGGGCAGAC GGGACAGCAATGTGAGCATGCTGAGATGCTCGACATTGCACACTGCAGCC ACGATGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCA ATGTGAGCACGCTGAGATGCTCGACATTGCACACTGCAGCCACGACGAGA CAGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCAGTGTGAGCA CGCTGATGCTTGACATCGCACACTGCAGCCACGAT	C C	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	379	0.0026	-1434	c.121 others(17): Show c.121+3707_121+5140del	CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2			chr5	TogoVar
ZNF674_chrX_46492725_46550421	46495841	AAAGTCCC others(1427): Show AAAGTCCCTGTGTGTCACAGTACAATCCATTAGGATTTGGAAGCTGTATT AATCCATTTTCATGCTGCTGATAAAGACAGACCCGAGACTGAGCAATTTA CAAAACAAAGAGGTTTAATGGACTTACAGTTCCATGTGGCTGGGGAGGCC TCACAATCATAGTGGAAGGCAAGGAGGACCAAGTCACATCTTACATGGAT GGCAGCAGGCAAAGAGAGAGAGCTTGTGCAGGGAAACTCCCATTTTTAAA ACCATCAGATCTTGTGAGACTTATTCACTATCACGAGAATAGCACGAGAA AGACTGGCCCCATGATATAATTACCTCCCACTGGGTCCCTCCCACAACAC ATGGGAATTGTGGGAGATACAATTTGAGGTGAGATTTGGGTGGGGACACA GCCAAAGCATATCAGAAGCAAAGCAATATCATCCTCTGCAGATAACTTTT CTATAGAGAAGTTTCTAGCTTGCTATGGAGCCAGTACCTTTTCTCTAATC CAGTCCCACCCCTCAAAGTTAATAACTATCCAGAATTGTAATGCCAAAGA AAAGGGAAGTTCCATAAATTAGATGGTATATTTGAGACCCTAGACAAACA AGAAAATAAACTCCAGGAAAATTTTTAAATAAGCATAAATGATTATTGAA AATAATTCACATTTTCTTATGAATGTTATATATTTCCTTGACCATATTAT TCAATTATTTTAGAATCCATGATTCATAGCTTTTATATCTGAAAGGCCTG TGGGCCTGCTTCTATTGTCCACTTTTTTCTTCTGACTCTGGGTATACCTG GCAATTTTTGATTGAATGCCATTGTGCATAAGAAATTGTAGAAGCTCTAG ATGAGCTTTTGTTTCTTTTGTTTGTTTAGAGACAGTGTCTTGCTCTGTTG GCCAGGCTGGAGTACAGTGGCACAATCATAGTTCACTGCAGCCTTGAACT CCTGGGCTCAAACAATCCTCCCACCTCAGCCTCCTGAGTAAATGGGACTA CAGGTGTGAGCCACCACACCTGGCTACTTTTTTATTTATTGTAGAGACAA CGTTTCACTATATTGTGAGGCTGGTTTCGAATTCCTGGCCTCAAGTAATT CTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCAC ACACAGCCAAGCTTTAGTTTCTGAAGGTAATTATAGCAGGAGCAAATTAC CTGAATTCAGTTAGTGAGCTCATTCAAGGTGTGGTATCAATCTTAAGATC TGGTCTATGTTTACTCCTTCCTAATTCCTAGGTACAGTCCTTCAGAGATT CCAGCTGAAAGCCTGTGGTATTTAACAAGGCCCATCATCACTGGTGGAAT CTGAACTTCAAGTCTGATTTCCTTGGCACATAATTTTCTACTAAAAGCTC TGCACCTGGCTGCTGTGAATTTCCAAATCTATCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA19083.hp1 NA18966.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0127 a0001c0001t0005g0039 a0001c0001t0002g0127 a0001c0001t0005g0039	2	285	0.0070	-1434	c.25 others(11): Show c.2568_*4001del	ZNF674	ENSG00000251192.8	transcript	ENST00000683375.1	protein_coding		1883		chrX	TogoVar
CAMTA1_chr1_6780454_7774706	7510009	ACAACAAA others(1426): Show ACAACAAAAAAAAAAAACACTGTCCTCCGAGGCCATCCAGGCCCCCTTTG TACAAGCTCCTGACCCAGTGACCCAACAGATACATTTCAGACTGATTTTC ACATCAGGAGGAGATTCCACGCTTGGTACGACGGCACTCGAGATAACACT CCCCGTTTTCATTAAAGGGCAAGCTACCAAGGGTCACCTGTTTGGGATAT TGAAGGGGTAAAGGCCAACAGTTCTTAGGTCTAAGGAGTTTGTAAAAAAT ATGCAAATGCCTGGGCCCCACCCCCGGGAATTCTGGGTGCCCCACTCTGG GGTAGAGCCCAGAATGGCTGTTTTGTTCAGCGATTCCCAGGCTGGCATTG GAGGGTCCATCCCACCTCTGACACCTGCTGGCATTGATGCACCTTGCTTC GCCCCTGGGGGCTCACCTGTCCCATGGGAAGGAAGGTAGTGCCACCTTCC CACTTGTTAAGAGGATCAGGGGCAGTGCCCTCCCAATAGTGACACATAGG TCACAGCTGTAGCTCGTACTATGACTGCGATGGGCAGAGCCCAGTCTGCC ACAGGCACTGGAGAAGGAAGAGGATTTCACACAGAGGTTCCAGAGTCCAT CAACAATCCATCAGAAATGACGTCAAGAATCTTTCAAGTGATGAAATTCT TGGGGCGAGAATGTGTGGTTTATACAAGCAGCCTTTACCTCCAGCCTTTC CAGAAACTCACATAAAATGAGTTTCCTCCATTGTGTTTACCCTACTGGGG ACAGCAGGACCTTTGTCCTCCTGCTCCAGGATGGCTCTCTACCTTCCAGG CATCCCAGTTCATAAACACACACTGTAATTCCTACTTTTGTTTGAGAGCA TTGCTTGGGGTCCCGGTGGTTTGGGAGTCACTGTACCTTTGCCAGCGTGA CCCTGCCCCATCTGCCTGTCCACATCCTACACCCTCCATCGCCCCACTCT AAAGCCACCTTTTCCAGGGAGGCTCCTGGGAGCTTCGAGCCTCCCCTCTT TAAACTCTCCGTGTGTGTTACTCCTTCGGCACTCGCCCGATTGCCCGAGG CATTCTTTCCACAGCCAGAAACTCAGCACCTGCTACTGGGTGTCAGCCGA GCCTCCTGGAAGGCAGGAACTGTGCCTACGAGCATTTCCAACCCCCTTCC CAATTAGCAGGGCACCTTGCATAGTAGGTTTATCAACTTTCAGTTAAGCC AGGATAATGCAGGATAGCACCAGGGGACACTTCAGACTTCGAATCAGAAA GCCTTGAGTTCACATCCTGGAGGGACACCCTAGTAGCTCCGTGACCTTGA GTGTCCACTTTCTTTCCTGTAATGTGGGGATCATCACCCATATATTAAGT GTTATGAGAAAAAGAAATAATGAATGTAAATCACTTGGCATCTTTGTGGC ATTTAAGCATGTGCAGGATGATAATTATCATTAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG02132.hp2 others(1): Show HG00558.hp1 HG00558.hp2 HG02132.hp2 HG02451.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 a0002c0004t0011	a0001c0001t0001g0040 a0001c0001t0003g0047 a0001c0002t0003g0025 others(1): Show a0001c0001t0001g0040 a0001c0001t0003g0047 a0001c0002t0003g0025 a0002c0004t0011g0005	4	58	0.0690	-1433	c.510 others(19): Show c.510+42111_510+43543del	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
HEXB_chr5_74680233_74726288	74699482	TCAGGCTG others(1426): Show TCAGGCTGATCTTGAACTCCTGACCTCAAGTGATTTGCCTGCCTTGGCCT CCCAAAATGATGGGATTACAGATGTGAGCCACCACACCTGGCCTTTGCTA CTCTTTTAACAGTTGAATATTTCATTTTATTTAGTCTCATGCTGATGGAC ATCTAAGTTAATTAACTATTATCATAAATACTACTGCAGTGTTTTATACA TATATATTTGTACACTTGATAAGATTATTTCTGGAGGATAAATTCTTAGA AGTGAATTTCTGGGCTTAAGATGTATATATTTTATTTTTTGGTACATTTT AACTTTTGGTATATACTGTCAGGCTGCCTTCTAGACAGGTCGGTCATAGC CACATATGCTTGGCCAACAGTGTGGTACATCTTTGCCATGTTTGTTGCTG ATCTAATGATAAAATATATCTCCTTGTTTTAATGTGCACTTCCTTGCTTT TTAGTGAATATAAGCCTTTTTTTTACATATTAATTATTTGTATATTTTAT ATTATAAACTGTAAGTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC AGTCTTGTTCTGTTGCCCAGACTGGAGTGCAGTGGCACAATCTTGGCTCA CTGTAATCTCTGCCTCCTGGGTTCAAGCGATTCTTGGACCTCAGCCTCCT GAGTAGCTGGGATTACAGGCATGCACCACCACACCCGGCTAATTTTTTGT ATTTTTAGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAAC TCCTGAGCTCAGGCAATCTGCCCACCTCGGCCTCTCAGAGTGCTAGGATT ACAGGCATGAGCCACTGTGCCCAGCTGTAAGTTTATTTTCTATGTTTATT TTGTCGTCTAGAATGTGAATACCTTCTTTATTGGTTTAATGTTTTAATGT TATAGTTGTCTATAGATTGTGCCACTGATACTTTTATATTTGCTTATATG TATCTTATTTTTAAAATTTAATTAATTTAAATTTTTTATATTTAAAAAAA ATTTGTGTAGAGATAGGGTCTCACCATAATGCCTCAAACTCCTGGTGTCA AATGATCCTTCCACCTTGGCCTCCCAAAGTGTTGGGATTATAGGCATGAG GCACCATACTCCACCTTATATTTATATTATATACTTACCCATCATATGTT GTTGTGAATTTTTTCTAAATTTCTAAATTTGTTTTAATAACTGTGTTTAT AATGCCTGTAGACATTTACATTTTATTTATTTATTTATTTATTGAGACGG AGTTTTGCTCTTGTTGCACAGGTTGGAGTGCAATGGTGCGGTCTCAGCTC ACTGCAACCTCCGCCTCTCAGATTCAAGTGATTCTTCTGCCTCAGCCTCC TAAGTAGCTGGGATTACAGGTGCCCGCCATCATGCCTGGCTAATTTTTAT ATTTTTAGTAGAGGCAGGGTTTTACCATGTTGGC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	394	0.0025	-1433	c.669 others(17): Show c.669+2404_669+3836del	HEXB	ENSG00000049860.14	transcript	ENST00000261416.12	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
TGM4_chr3_44869608_44919990	44914271	CAGTTTGA others(1426): Show CAGTTTGAAGCCCAATCTGCAAGGACATTTCTCAAGGGCCATGTGGTTTT GCAGACAACCCTGTCCTCAGGCCTGAACTCACCATAGAGACCCATGTCAG CAAACGGTGACCAGCAAATCCTCTTCCCTTATTCTAAAGCTGCCCCTTGG GAGACTCCAGGGAGAAGGCATTGCTTCCTCCCTGGTGTGAACTCTTTCTT TGGTATTCCATCCACTATCCTGGCAACTCAAGGCTGCTTCTGTTAACTGA AGCCTGCTCCTTCTTGTTCTGCCCTCCAGAGATTTGCTCAAATGATCAAT AAGCTTTAAATTAAACTCTACTTCAAGAAAACTCTGTGGTCCCTGAGTCC TTTTTTCTTTATGCCAATAAGCTTCTTAAATGTGCTGGCGGTTTATGCAG TCACTTGGGGAGCCATGGAATCCTTTGATCTCCCCAGGCAAGGTGCTCTG AGGAGTTGGCTTCTTTATTGTCTGTTCAGTACATCCAACCCCTCTCTCAA AGGCTGTCACCCCAACTGGATACACACCCTGGCAAAGGCACGTAGCTTGA ATGAGGGTTATTTTGTGTCTAATTCACAGGAGAGTCATGGGTGGGATACC TGTCATCCTCTGCCTTTCCAGCTGTCCAAGTGAAAAAAACCTCAATCCTG GTCACCCTTGCCCAAGTTGCCCACATCCCTGGCATACAGTAGGTGTTCAA TAAATGTTTATTGAAGGAAAGGTGACTGTTCCTTCTGCTGGAAATACCAC AAGGGTGGTGACACAAACAAGAGTTTGGTCAGTCACTCCACAGCACAGTG TCCGATCCCAAGAGGTGATATAGCCCGGCACGGCCACTGTGTGGTGCCGT ATGACACTCACTTGTCTCCCACACTGGGAATGGAAGAAAAGTAGCTTTCC TAGAGGTGCCTTTAGGGTGGCCCATAAGGAAGGACACTGCCCAAGGGTTT GAGCTGGGATCTCTTAATTAAAACAGGAGACTCCAGTCACTGAGGGTGAG CAAAGAGCTTTTTATTCAAAGAAAGAGGCAAATTGCACCCAATCTCTCTC CCTGTAAGATCTCATCTGGTTTTGACATCAGTTGCAATGCTTTCAGTCTG AGGCTAAGCAGAATGTTATGCTGTGAATGGTCACCACAGAGAGACCACTG TGTTGCTGGTGTGGGGAGGCGAGGCTCAGGGTTGGACAGGTTAATTACCT ACATAACCCTGGCTGTGGCCCAGCCCAGCACCTCCCAGAACAGGGACTGA CATGGCTGAGGTCTACCTTGGAGATGGGGTCAGTGAAGAGGGGAGGCAGG GTCAGCCTCTGTGCAAGTAAAATGCCCCCTCACCCCAGCCTTCCTTTCCA GAGCAACCAATCTGAAAACAGAATTGCCTTTGGGGCTGGTGTTGTACCTC TGCTTTCAGGCCAAGATGGATTCCCTAGAAGAGG	C C	splice_region_variant splice_region_variant	LOW	NA19043.hp1 NA19043.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0008 a0007c0007t0008	a0007c0007t0008g0133 a0007c0007t0008g0133	1	312	0.0032	-1433	c.54 others(10): Show c.547_*1979del	TGM4	ENSG00000163810.13	transcript	ENST00000296125.9	protein_coding	14/14			chr3	TogoVar
ZDHHC3_chr3_44910261_44981174	44914271	CAGTTTGA others(1426): Show CAGTTTGAAGCCCAATCTGCAAGGACATTTCTCAAGGGCCATGTGGTTTT GCAGACAACCCTGTCCTCAGGCCTGAACTCACCATAGAGACCCATGTCAG CAAACGGTGACCAGCAAATCCTCTTCCCTTATTCTAAAGCTGCCCCTTGG GAGACTCCAGGGAGAAGGCATTGCTTCCTCCCTGGTGTGAACTCTTTCTT TGGTATTCCATCCACTATCCTGGCAACTCAAGGCTGCTTCTGTTAACTGA AGCCTGCTCCTTCTTGTTCTGCCCTCCAGAGATTTGCTCAAATGATCAAT AAGCTTTAAATTAAACTCTACTTCAAGAAAACTCTGTGGTCCCTGAGTCC TTTTTTCTTTATGCCAATAAGCTTCTTAAATGTGCTGGCGGTTTATGCAG TCACTTGGGGAGCCATGGAATCCTTTGATCTCCCCAGGCAAGGTGCTCTG AGGAGTTGGCTTCTTTATTGTCTGTTCAGTACATCCAACCCCTCTCTCAA AGGCTGTCACCCCAACTGGATACACACCCTGGCAAAGGCACGTAGCTTGA ATGAGGGTTATTTTGTGTCTAATTCACAGGAGAGTCATGGGTGGGATACC TGTCATCCTCTGCCTTTCCAGCTGTCCAAGTGAAAAAAACCTCAATCCTG GTCACCCTTGCCCAAGTTGCCCACATCCCTGGCATACAGTAGGTGTTCAA TAAATGTTTATTGAAGGAAAGGTGACTGTTCCTTCTGCTGGAAATACCAC AAGGGTGGTGACACAAACAAGAGTTTGGTCAGTCACTCCACAGCACAGTG TCCGATCCCAAGAGGTGATATAGCCCGGCACGGCCACTGTGTGGTGCCGT ATGACACTCACTTGTCTCCCACACTGGGAATGGAAGAAAAGTAGCTTTCC TAGAGGTGCCTTTAGGGTGGCCCATAAGGAAGGACACTGCCCAAGGGTTT GAGCTGGGATCTCTTAATTAAAACAGGAGACTCCAGTCACTGAGGGTGAG CAAAGAGCTTTTTATTCAAAGAAAGAGGCAAATTGCACCCAATCTCTCTC CCTGTAAGATCTCATCTGGTTTTGACATCAGTTGCAATGCTTTCAGTCTG AGGCTAAGCAGAATGTTATGCTGTGAATGGTCACCACAGAGAGACCACTG TGTTGCTGGTGTGGGGAGGCGAGGCTCAGGGTTGGACAGGTTAATTACCT ACATAACCCTGGCTGTGGCCCAGCCCAGCACCTCCCAGAACAGGGACTGA CATGGCTGAGGTCTACCTTGGAGATGGGGTCAGTGAAGAGGGGAGGCAGG GTCAGCCTCTGTGCAAGTAAAATGCCCCCTCACCCCAGCCTTCCTTTCCA GAGCAACCAATCTGAAAACAGAATTGCCTTTGGGGCTGGTGTTGTACCTC TGCTTTCAGGCCAAGATGGATTCCCTAGAAGAGG	C C	splice_region_variant splice_region_variant	LOW	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0210 a0001c0001t0040g0210	1	304	0.0033	-1433	c.10 others(13): Show c.10985_*12417del	ZDHHC3	ENSG00000163812.16	transcript	ENST00000424952.7	protein_coding	7/7			chr3	TogoVar
DDR1_chr6_30879519_30905156	30902086	CGCTCTGT others(1425): Show CGCTCTGTCACCCAGGCTGGAGTGCCGTGGCGCAATCTCAGCTCACTGCA ACCTCCGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCACATA GCTGGGATTACAGGTGTGCACCACCATGCCCAGCTAATTTTTTTGTATTT TTAGTAGAGACGGGGTCTCACCATATTGGCCAGGCTGGTCTCAAACTCCT GACCTCGTGATCCGCCCACCTTGGCCTCCCAAGGTGCTGGGATTACAGGC GTGAGCCACCGTGCCCAGCCCCACCTGCAGTTAATTTAAAAGTCAGGCCC TGCTTGTCCAAACCTGCTTCTCCTCCACAGTCTACTGACTCAGTGAATGG CAGCATCATCCACTTAGCTGCACAAGCCGCACAAGGTGGCATCCCCGAGC TCCTTCTCCCTTACCTTCCACCTCTCAAGTCCAGTCCAGCACAAAACGCT GTTGATTTTGCCTCCCAAATCTCCCTGGAACTTGTCATCTCTGTCTCCAT CGCCCTCCTGGCACATGCTGCCTCCATCTTGCCTGGACTCCTGCAGTGGT CTCCCAGCTGTCACCCAGATCTGCCTCTGCTCCTCTCTGGGTTGTTTTCC ACCCTGCAACCACAGTTATCTTTAAAACACACAAATCTGACCCTAATCCT TCATTTCAAATCCAGCAGTGACTTTTCATTAATCTTAAAATGAAGAACAA AATCCTTCTGGCCAAGGTTGGCCCCCACATACCTCTCCAGCGTCCTCCCC CACCCGCTTGCTTTCCTCTGTGGGCCACTGGCCTTCTTTCAGATTCACCC AATGGGCCACAGTACTTCCTGCCACGTGGCCTTCGTGGCATGCTGTTCCC TCACCTGGAACAATGTTCCCTGCAGTCTGTGCCTTATTAACTCCTGCTTG TCCTTCAGCAGTCTTTCCTGACTTCCCCAACCAGGTCAAATTCCCTACTG ATAATCTCAGAGGACATGAATCTCTTCTTTGTGGCACTTACTACGTGTGT AATTTTACATATCTTTTTATACCTGCCCCTCCCACCAAACTATAAGTTGC ACAAGGGCAAAATCTTGGAACACAGGGCTCAATATTGGTTGAAAGAAAGA ATTGTAGCAAATATCTGATAGACTAACATAGATTCTATGTAGTTACAGAA CTAGAACTAGGATTAATAAGTGAAAGTTACAATAATGATGATAATATATT ACTGAGCACCCACTATATACCAGGTATTGAAATTACGACATATTATATCT TACTTAATACAACAATATATGAAGTAGTTAAAATTACTTTGCACAGAGAA GAAAATTCTGTTAGGTTAAGCAGCTTGCCCAAAGTAGCAGTCAGTCAACA GTAAAGCCTGTGGGAAGTGGGTCTGTGGGCTCCTGGCTCTCTGTTCCTTT TTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0015 a0001c0002t0002g0015	1	430	0.0023	-1432	c.27 others(11): Show c.2791_*4222del	DDR1	ENSG00000204580.14	transcript	ENST00000376568.8	protein_coding		1931		chr6	TogoVar
SLC25A24_chr1_108129043_108205343	108193197	TTGTAGAT others(1425): Show TTGTAGATTCAGGGGTTACACCATCAGCTTGTTACAAGGGTATACTGTGT GATACTGGGGTTTGAGCTCCTAATCGTGCCATCACCCAGGTTGTGAACAA AGTACCCAGTAGGAAGCTTTCCAGCCCTTGCCCTCCTCCCTCCCTCCCCC CTTTTGGAGTCCCTAGTGTCTATTGTTCCCATCTTTATGCCCCATTTACC CAAGGTTTAGCTCCCCCTGTAAATGAGAACACAGTATTTGTTTTTCTGTT TCTACAATAATTCGTTTAAGTTATTGGCTTCCAGCTGCATTCATATTGCT GCAAAGGACATGATTTTGCTCCTTTTTTATGGCTGCATAGTATTCCATGG TGTGTATGTACCACATTTTCTTTATCCAATCTGCTGCTGATGGGTACCTA CATTGTGTTGTAGGAATCCTTTTCTAAGGTTGCAGCACTGGAGAATTGCT GTAATAAAGACTAGGAATTGAATGAAAATCTGCCCACATGGGCCCTTTCT TCTGTGACACCTCCCCTCACAGTTTTTTATCTTTTATCTTCATCCAACCA CTACAATGGCTCCAGGGCAAGCCTATCCTTCAGCTGTTAGTGGCTGGATT GGAAAGATGATCTCAAAATAGGCAAAAGTTCAGTGATCTTGGGTCCCAGA GAGAAGTCAGCAGATACTCATAAATACTATCTAAGGCTTCCTCTTAATCC TCACCCTCCAGAACCACAGAGGGCCCTGGCTTCCCCAGACCAACACCTGT GCTCCCTCATCCTGCACCACTGGGAATATGGAGGTGCAGTTTCACAATAA AAACTCTCCACTTTTTATGTAATTTATTTTCCTAAATATGGAGATTGGGT ACCCTAAAAAGTTGAATATTAAAATTCAAAAAGAAAATTTAATTTAGCCA TTATCTGTAAGCTCTTGCTCTACACTACCCATCATGTCAGATACTGGGGA CAAAAACAGACCATCACATGTCCTTGAAATACTCATAGGTTTCCCTCTGG GAGGAGGTTGCACCATGGTTAGTCAAAAAAACTACTGTACGCTTCTCAGT AAACATTTTCCCCCAGAGCTGCTGAGCAGTGGCAAATGTCTAATGCTGTT TCACAAGATGTGCTGTGGCCCAATCAAGAATGAATTCTTTCAAAAAGAGA ATTTTATGGTCCACAGGGAATGGTCCTTCCCTGTGCAACACAGAAAATGT AGGTAGTGGCAAAGAGCCACAGAAGGCAGATAGCCAGGCAGAGAATGAGC CTTGGGTTAGAGTCTACAGGACCAAGCAGAAAAGACAGAAGTCGTGGCCA GGGTGATAAGGAAAACAGGCTGACAGCATTTAACAGAATTGACAGGAGAG AACAAACCATAGAGTTGAGAGTTTCATCTAATAAAAGGCAGGTAGTTTTG TTGAATAGCTCTTTCTGCTTTTTGAAATTACCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(134): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp1 HG00741.hp2 HG01074.hp2 HG01106.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01884.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02602.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02896.hp1 HG03098.hp1 HG03195.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19009.hp1 NA19011.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp2 NA19066.hp2 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0001t0009 a0001c0001t0013 others(11): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0002t0002 a0001c0002t0003 a0001c0002t0016 a0001c0004t0002	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 others(112): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0009g0006 a0001c0001t0009g0131 a0001c0001t0009g0165 a0001c0001t0009g0172 a0001c0001t0013g0091 a0001c0001t0013g0105 a0001c0001t0013g0106 a0001c0001t0013g0107 a0001c0001t0014g0014 a0001c0001t0014g0153 a0001c0001t0014g0176 a0001c0001t0015g0150 a0001c0001t0015g0164 a0001c0001t0015g0169 a0001c0001t0017g0092 a0001c0001t0017g0102 a0001c0001t0022g0077 a0001c0001t0023g0104 a0001c0001t0024g0170 a0001c0001t0025g0124 a0001c0002t0002g0138 a0001c0002t0002g0145 a0001c0002t0003g0007 a0001c0002t0003g0132 a0001c0002t0003g0133 a0001c0002t0003g0134 a0001c0002t0003g0135 a0001c0002t0003g0136 a0001c0002t0003g0137 a0001c0002t0003g0139 a0001c0002t0003g0140 a0001c0002t0003g0141 a0001c0002t0003g0142 a0001c0002t0003g0143 a0001c0002t0003g0144 a0001c0002t0003g0146 a0001c0002t0003g0147 a0001c0002t0003g0148 a0001c0002t0003g0181 a0001c0002t0003g0182 a0001c0002t0003g0184 a0001c0002t0016g0013 a0001c0004t0002g0129 a0001c0004t0002g0158 a0001c0004t0002g0159 a0001c0004t0002g0160 a0001c0004t0002g0175	137	372	0.3683	-1432	c.183 others(17): Show c.183+5327_183+6758del	SLC25A24	ENSG00000085491.17	transcript	ENST00000565488.6	protein_coding	1/9			chr1	TogoVar
CADPS_chr3_62393348_62880416	62624942	CCTCATTC others(1424): Show CCTCATTCTGAAATTTGAAACTTACAATGGAGAGTCTTATTTTGTCTGGT GATGAGCAGAGAGGGTGTGTGGGATCCATGGGAGACAGAGTGGTCCCCTC TTCTTGGGTTGACTACAGCTTGTTGGAGGTGTGGGTAAGGCACTTAGGGT CTTTGCTCCTTTGTTAGTCTGAGGCCCCATGACAAGTTTACCTATGTAAC AAAACTGCACATGTACACCTGAATTTTAAATAAAAGTTAATAATTTTTTT TAAAGACTACACACATTAAAAAAAAAACTAGTCAATTCCCACACCAAGAG AAAACATGGTTTTATAGCAGAAACAAAGACATAGATTATCCAAGTATAAC GGCTGCAAGCTTAGATGCATAAACATTGTAAAATTCAATGTCAAAATGTA TGACTAACAATGTCATTTCAATTTTGTCATAAAAGTTTTTCACACACACA CACACACACACACACGCACACACATGCACACACATGTTCACATGAATGGA GAGGCACAGAAACAGGACACCACTGGAGCCGGGTCACACTGGTTCAGGAG CTCTCTGTCCCCAGTGTTTATCCTATCCCTGCTAAATGTACTTGTTTCTT TAAGCTCTCTTCCTCTTAGTTTCGTCCGCAAAGCTCTTTTATACCTTGAC TCAGCCTATATTTATAGATTTCTTTCTTTTCTCTTCCTCCTTTTATACCT CCTTTTTAGAACCTACGTTCCCTACACAGTACAGCACTTCTGAGACTATA GGTGTTGGCGGATACCACTTCGTTTTGCTGGAATGCCCTTGCCACCCTTT CTGTACTTGCAAATGCTTTCTAGCCAAATTCAAGGGCCATTTTCAAGAGC CATCTTCTCCAGGACCATTCTTTGGTTTTCTCAACAGAAGCAATCTGCAG TTTTCCCCAGAATGGAATCTTTACTTTTTTATATTCACTACTAAATGTAC ATGATTTATTTCCCTGTAAGTATGCTGCATCCTGAAAACAGGGTCTTTGC TCTTTATTTTTTAATCATTCGCATCTATAGTGTTTTACACCTTGTAGATA ATTGAAATTTATCAAATAAACAATTTATTCATTTTATTTATTTGTGTCCT GGGAACCTTGTCAATAATTGTCATCTCATCTTTTCCAAGGCTGTAATAAA ATGCTAATGTCTATCCAAATAAAATTCAGAGAAAAGTGAGAGCCTCTGTT AAATGTTCTCTTCCCCTGAAGCTTTCATTGGTATCCCCATTAAGAATTAA CACGTTCACTTGACATTTCATTCCGGTCATTGAGAAGACAAAGCCAGCTA AGGGGGAAAATGTTTTCTTTCTTTTGTCTTGAGTGTTCACATTCAACAAC ATTACTAATTCCATCTTTCTCATTCACGTCACTTTGCAAGCTGGCACGGA TTTACTAAACAGAAAAGAAACCATGGAATGCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp2 HG02572.hp1 others(3): Show HG01884.hp1 HG02280.hp2 HG02572.hp1 HG02970.hp2 HG03041.hp2 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0013 a0001c0001 a0001c0002 a0003c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0003c0013t0001	a0001c0001t0001g0072 a0001c0001t0001g0094 a0001c0001t0002g0153 others(3): Show a0001c0001t0001g0072 a0001c0001t0001g0094 a0001c0001t0002g0153 a0001c0001t0006g0005 a0001c0002t0001g0065 a0003c0013t0001g0040	6	158	0.0380	-1431	c.132 others(21): Show c.1325+19349_1325+20779del	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	6/29			chr3	TogoVar
CYP39A1_chr6_46544580_46657818	46629865	ACTGTTGG others(1424): Show ACTGTTGGCACTGAACATGACGTGACAGACAAATCTCATGGCTCTAATCT AATGCAAGACAGATTTTAAAAGAAACAGTTTTTTAGCCGGGCCCAGTAGC TCACGCATGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGGGAATCGCTT GAACCCGGGAAGCAGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTC CAGCCTGGGTGATAGAATGAGACACCATCTCAAAAAAACAAAACAAAACA AAACAACAACAACAACAAAAAAACCCACAAAAAACAGTTTTTTAAGTCTT GCCTCTCTTTAGAAGTGTTGAAAGTTCCAATTTCACCAGCACCATTCATG CGGAAGCTTGTAGGACCATAATGCTAAGCAATGCAAACAGGAATGGCACA CAGAAGGAGAATGGGTACAAATGGAGAGAAAGAGCTAATATTCATTGATA CCAGCTAGGCTTATCTTATTAAATCCTCATAACAACTTTGTAGAGAAATG AGAATTACCATTTATTGAGCACCCAAGTTCTAAGACCACAGTGGGAGGTT CACATACATTATCCCTTTTTTTACCCTTATTAGGTAAAATAGTACATTAT CTCTTATTAGGAAATGGAGGCACAGAAAATTTAAATTACCACCATGACAG TCTACAACTACAAATTGGGATGTCTGGATCCAAGCCCAAGTTACCTGAAA CTATCCATTTACTTACTCTTTCCAATAAAAGCATGTGGCCAATCCCTATT CATCTTTTCAATACCAATACTGAGCACATTGGTAGACATACAAAAAGTGT TCCATAAACAGATGTTGTCTACAACTGGCCCCAAAGGGCAAGCTTTTCCC TCATCCTGTTACACACTGCCTTTCAGAGGACAGAATTTGCTTGAGATCTG TTTCGTCTCCTTTGTAACCTAATCAGATTTCATTAGGCATTCAGTTTTGG TTTTTATCTCACAACCAAATCCACTGTAGTTTTTTTCTTTTCCATAATGA GTGATGAGTGGAAAAAAGAATGGAAGACAGAAATGAAGGAAAAAAAGATG AAAGGACAGTGGAGAGCAACGTAACTCATACTTTACTAATATACTTACAG GAACAGCATTAGACAGAGAAGCCCAAAGCAGTAAGAGCCCATAATTGGGT GAGTTTTCCTTACTTGTTTCCGTCTCTACAATATCCAGCGTAGCTTGCAA TAATGTCTGTTTAAAAGAAATAAACATTGCCAAACCATGGCTATGTGACA AATATCGATGTTAATAAACAAGAGATCATGCCTTTTTCTTTAATATGAAA GATATCATTTCTGCCATTCCCAGGTTTTGCAGTTTGAGGCATGTGAAGGG ATTTATGTCCTTACTGTAGTATAGTAATTAGGAGTAGGGATTCTGGAGCT TGACCGCCTCACTGCATTTGTTCAAATCCTGG	A A	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG02723.hp2 HG02723.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0178 a0010c0010t0001g0178	1	308	0.0032	-1431	c.733 others(16): Show c.733-226_840+1097del	CYP39A1	ENSG00000146233.8	transcript	ENST00000275016.3	protein_coding	6/12			chr6	TogoVar
GK_chrX_30648423_30736462	30658541	ATCCTGAC others(1424): Show ATCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCACGCCCGGCCAAGTTGTGGTTCTTTTGTTGTTTCT TTCTTTCTCCACTACATTTGCTTGTTTCCTTGCCCATCACATTACACAAG TACCAGGAACACATTCTCAACAGAGAGCTGCCACCCACTCTTGTCTTGTC TGTCACAAGACTAAGTGGTAAGAGCTTTCAATTTTGAGCTTCTTGAGGGA TAGAACCATGTCCTTTTTCTTCCCCAAAGCCTGACACAGCATCTGGCATG TGGTAGACACATGTTACATGAACCAACATTAGCAGCAAGGGACCTGCAAG GACTCAAGTGTGTTGACTGGAACACTTGGATTAGAATAGACCGATAAAAC TTGAGGCATCTTGGAAAAAGTCAAAATCAGAAACTATAGCTCTATTTGAT GTATGTATATGCCATTTACTACAATTTCTTTCTTTCTTTCTTTCTTTTCC TTTTTGAGACAGAGTTTCACTCTTCTTGTTGCCCAGGCTGGAGTGCAATG GCGTGATCTCAGCTCACGGCAACCTCCGCCTCCTGGGTTCAAGCGATTCC CCTGCCTAGCCTCCCCGAGTAGCTGGGATTACAGGAATGTGCCACCACAT CTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGT CAGGCTGGTCTCAAACTCCCTACCTCAGGTGATCTACCCGCCTCGGCCTC CCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCTCGGCCAATTTCAT TTTTAAGAAAAACATAATTTCATTTGCTATGTTTTCTTTACTTCTGTGGC TTGTTGGAAGATGCCTTTTCTAGTCAAATTTGGCATGGAACATATTTGTG GCTAATATTTTTATTTTCAGTCACTCACATTTACGTAGTATCATGGTGTT CTCAAGAGGAAGTTTACATTTCTGAATAATGTCTTATCACATGGTAAAGT TTAGTGTGTCATAAAAGAGTAGACTAGTGGGGAAATCACATGGGGAGGGA AATGAATGTGCACATTTATGATAGGACAGATGAATTAGTCATAGGATGAG TGAGGCAAGCCTACAGGACAGTTACTTAGTAAAGAGAGCATTTCAGCTCC CCAGAAGTCTCATTCTTATAAGGCAGAGAATACATGTGTTGTTTCAGAAG CTAATTTTTAAATATTTTTTGTTTTTGAGACGGAGTCTTGCTCTGTTGCC CAGGTTGGAGTGCAGTGGTGTGATCTCAGCTTACTGCAACCTCCACCTCC TGAGTTCAAGTGATTCTCCCACCTCAGCCTCCCCAGTAGCTGGGATTATA GGTGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTGGAGATGGG GTTTTACCATGTTGGCCAGGCTGGTCTTGAAC	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	284	0.0035	-1431	c.78+ others(15): Show c.78+4938_79-5528del	GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
ERC1_chr12_986223_1500931	1085899	GTTGTTGT others(1423): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTG AAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTA TTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCT GGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGC AATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGT GCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATT GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTATTGTTGTTG TTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTA TTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATG CCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACA GGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAA AGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATT ATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGG CCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAA TATGCCTATGCCTGGCCCGTTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	1	102	0.0098	-1430	c.108 others(19): Show c.1086+2329_1086+3758del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
GANC_chr15_42268201_42358666	42293534	TAAAATTT others(1423): Show TAAAATTTTGATACTAAAAATATCTCATTTTCTCATCTCAGAACTAATAC TTGTTCATCATAGGCAGATTAGAAAATATTGAAAAGAAGAAAATTTAAAA TCCCCATAATCTCTCCACCTACTCTCTTAGTGCCTTATGAATAGTCAAGT ACTTGTTTAACTGAAAAATACTAATAATAGCAGAACAAATATCTGTGTAC CCACTACTCATGTTCTTTATATGTAAAGCCTTTTTTCTAGCCAGGCACAG TGGCTCACACCTGTAATCATAACACTTTTGCCGAGGTGGCAAATCAGTTG AGCCCAGGAATTTGAAGCCAGCCTGGGCAACATGGTGAAACCCTGTCCTA CAAAAAAATACAAAAAAATTAGCTGAGTTTAATAGCACATGCCTGTAGTC CCAGTTACTTGGGAGGCTGAGGTAGGAGGATCACTTGAGCCCAGGAGGTC AAGACTGCAGTGAGCTGCGACTGTGGCACTGCACTCCAGCCTGGGCAACA GAGCGAGATTCTGTCTCAAAACAAACAAACAAAAAACGCTTTTTTTTCTT TTGTAAACCCCGATGATTTTGTTCTGTTTTCTTTTAAACATTGTTTTCTT TCCTATCTAAGTTGATCCTTTTACTTACTTATGTAGAAGAGGCACATGGT ACAAAGGAGTATATATTAATACACATTTCTATGTAATAATAGTAAAGAAT CTCCTTCCCCCTGTGTCCTCTAGCTGCCCACTTTCCATCGTTGAAAGTAA TGTGTTCTGGTCGGGTGTGGTGGCTCATGCCTGTAACCCCAGCACTTTGG GAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTG GCCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAATTTAGCCAG GTATAGTGGCACATGCCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCAGA AGAATCTCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCATAC CATTGCACTCCAGCCTGGGCAGCAGAGCAAGACTCTGTCTCAAAAAAAAA AAAAAAAAAAGTAATGTGTTTCCAGTTTTTTGTGTATCCTTTCAGAAACA ATTTATGTATACACATTTTATATATATTCTTTGACTTTTCCTTTCCTGAC ACAAATGGCGCCACCTTTACACATTATTCTACACCTTGCTTTTTTCTGTT AACAATGTGATAATTCTTAATTTCTTTAAAGCAGCTACATAATTTCTGTT GTATGGCTTTACCATGATTCACTGAGTAAATTCTCTATTGAGGGATTTAA AGTTGTTTCTAATCTTGTTTTACAACTAGTTAGTTTACTAATAACCTTGA ATATGTGTCATTGTGCATATATACAAGTATATTTATAGTATAGAGTCATA AAAGGATAGTTGTTGATCAGATGGTTTGTGC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02976.hp2 HG03225.hp1 HG02965.hp2 HG02976.hp2 HG03225.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0009 a0008c0011t0009	a0008c0011t0009g0018 a0008c0011t0009g0020 a0008c0011t0009g0021 a0008c0011t0009g0018 a0008c0011t0009g0020 a0008c0011t0009g0021	3	258	0.0116	-1430	c.512 others(16): Show c.512+619_512+2048del	GANC	ENSG00000214013.10	transcript	ENST00000318010.13	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADARB2_chr10_1172313_1742525	1237581	TACTCCCC others(1422): Show TACTCCCCCCTGCCTCCCGGTGTTTACTCCCATCTCCCTCCCGGTGTTTA CTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACT CCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTCACTCC CCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCC TCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTC TCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTC CCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCC TCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTC CCGGTGTTTACTCCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCC CGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTG TTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTT TACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTA CTCCCTGCATCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCT CTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCT CCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATC CCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCC GGTGTTTACTCCCCTCTTCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGG TGTTCACTCCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGT GTTCACTCCCCCCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGT TCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTC ACTCCCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTAC TCCCCCCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCC TCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTC TCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTG CCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCC TCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCT CTGGCGATACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTTCCTCCCG GTGTTTACTCCCCTCTGCCTCCCGGTGTTC	T T	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0039 a0004c0005t0002g0039	1	100	0.0100	-1429	c.136 others(19): Show c.1361+3121_1362-3737del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ANKRD44_chr2_196981662_197315780	197277021	ACGTTCAC others(1422): Show ACGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GTGCCTGCCACCAAGGCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTTACTGCATTAGCCAGGATGGTCTCAATCTCCTGACCTTGTGATTGG CCCACCTCGGCCTCCCAAAGGAATCTATTTTTCAAAGCTCCTCAAGTGAT ATTGATCCTCTTCTCGGTTTGGTACCCACAAGTATAGAGGACACGGAGTG CACCAAGCCCTTCCCTAGCCTAGAGGTGCTCAGAGTCTCAAAGGGAAGGT AAAATTTTAACCATCATGTCAGGCACATAACTGTTAAGTGCTAGAAAGAA ATACCAGTGAAGTGCTATGGGAATTCAAGAAAGGAACAGCTGGGCTGGAG GAGGTGTCTTGCAAAGGGTGCATTCCAGTGAGGATCTGGAAGACAGGGAG TAAGAGCCTCATCTCTGGAGACCGTGACTGCAGAGGCCTTTACATACATT ATCTCCATCCAAATTCAAAGCTACTGTCTGGGATAAATACCACTCCTATC CAGTCTTTCAGAATAATGAGGCCTAAAGAAGCAGAATAATTTCACTCAAG GTTTTAAACTTAGGCCCTGCAGTCCCAGATGATAGAGCTTAACCACGCAG CTAATACTCAAGCCTTGACCAGAGGGAAACAGGTAGGGGTGGTATGGAAG AGGTCCCAAGGAGTTTCAAGACATAGAATTTCTATCCAAAGCTTCACTTC CATCTTGCTATTAGCGCTGTCACCAGCATTCAGGAGGACAAGAGGAAATT ATCATAATTAGAAGGGACTCTGAGCATGTATCATTCACATATGGCTGGAA AGACTCAAGGATGAGAATAGGCAGTTAGGAGTCACTGACGCTAATGAGCC ACAAATCATAGAAAAGTAACTTAATTGAGACAACAGCAAAATGAGAGGAG GCTCAGAATTAGGAGCTCTCACACTGCTTCGACAGTTCTAGTAACAGCGT AAAGCAGTTTCTGCTTAATCAATTCCCACCTAATCAGAGAGCCATCTTAA CGCAGCATCTCCCAAGGCAGCAAATTAGCTAATAGTGAGTGACTGCAGCA ATCAGGACAGTATCAGTGGGGACGGGAGGGATGGAAATATGCTAGGAAGA AAGGCAATTGGCTGGTGCTAAGGGGTTAAGGGGTGTTTAACTGGCTGTTA AATTGCAAAGTGCTAAGCTTCTGTGTTCTAATGCAGAAAGAGTTAACAAT GAATAGAAATAAAGATGAAATCCATCTTTTTTTCTGTTTTTTTTATTCTG CATCCTAAATGTGCATCCAGGTAGTTACAAAACTTACTTTTTGTTTGTTT TGTTTTGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTG ATCTCGGCTCACTGCAACCTCCACCTCCCG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0020 a0001c0008t0020	a0001c0008t0020g0053 a0001c0008t0020g0053	1	112	0.0089	-1429	c.27+ others(17): Show c.27+32128_27+33556del	ANKRD44	ENSG00000065413.20	transcript	ENST00000282272.15	protein_coding	1/27			chr2	TogoVar

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