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
ABCC11_chr16_48160773_48252539	48247412	A A	AGAGCAGC others(450): Show AGAGCAGCAGAAGTAATTTGCTCCCAGCGTTCTTTGCCACATAGAGTGGC AGGGTTAAATGATTTAAAATTTAATCATTTAAATTAGAAAACATAGATTG AAAACTCTTCATAGAATTCCAGCATTAAAAGAACTCATCAGACCATCTAG TTATCCTAGAAGTATTGTTTGCTACTTCAAAAGCCTATGTGGAAAGATTG TACGATATTCCTTGGTAATAGTTTCGAATGTCTTTTTTTCTCTAATATGG CTTTTAAAGCACTCTACTTAAAAAAAAAAAAAGCTTTAATAATACCAATA CCGAGTTATCCACAGTATTAGTCTGTTTCCATGCACAAATCTGTCCTTCC CCAGTTACCTGCTTTTCTGTATGGTAGCCCAGAGGTGAGATGAGGGGCTC TGTTCCTGTCTCTTGTTTCCTTTACACCATCCAGGTGACACTGGCTGCAG CCTTCAAG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02896.hp1 HG03453.hp1 HG03471.hp1 HG02896.hp1 HG03453.hp1 HG03471.hp1	a0003 a0004 a0016 a0003 a0004 a0016	a0003c0018 a0004c0028 a0016c0024 a0003c0018 a0004c0028 a0016c0024	a0003c0018t0018 a0004c0028t0012 a0016c0024t0012 a0003c0018t0018 a0004c0028t0012 a0016c0024t0012	a0003c0018t0018g0132 a0004c0028t0012g0131 a0016c0024t0012g0133 a0003c0018t0018g0132 a0004c0028t0012g0131 a0016c0024t0012g0133	3	158	0.0190	457	c.-11 others(466): Show c.-118_-117insCTTGAAGGCTGCAGCCAGTGTCACCTGGATGGTGTA AAGGAAACAAGAGACAGGAACAGAGCCCCTCATCTCACCTCTGGGCTACC ATACAGAAAAGCAGGTAACTGGGGAAGGACAGATTTGTGCATGGAAACAG ACTAATACTGTGGATAACTCGGTATTGGTATTATTAAAGCTTTTTTTTTT TTTAAGTAGAGTGCTTTAAAAGCCATATTAGAGAAAAAAAGACATTCGAA ACTATTACCAAGGAATATCGTACAATCTTTCCACATAGGCTTTTGAAGTA GCAAACAATACTTCTAGGATAACTAGATGGTCTGATGAGTTCTTTTAATG CTGGAATTCTATGAAGAGTTTTCAATCTATGTTTTCTAATTTAAATGATT AAATTTTAAATCATTTAACCCTGCCACTCTATGTGGCAAAGAACGCTGGG AGCAAATTACTTCTGCTGCTC	ABCC11	ENSG00000121270.16	transcript	ENST00000356608.7	protein_coding	1/30	15492		chr16	TogoVar
ABCC11_chr16_48160773_48252539	48247412	A A	AGAGCAGC others(450): Show AGAGCAGCAGAAGTAATTTGCTCCCAGCGTTCTTTGCCACATAGAGTGGC AGGGTTAAATGATTTAAAATTTAATCATTTAAATTAGAAAACATAGATTG AAAAGTCTTCATAGAATTCCAGCATTAAAAGAACTCATCAGACCATCTAG TTATCCTAGAAGTATTGTTTGCTACTTCAAAAGCCTATGTGGAAAGATTG TACGATATTCCTTGGTAATAGTTTCGAATGTCTTTTTTTCTCTAATATGG CTTTTAAAGCACTCTACTTAAAAAAAAAAAAAGCTTTAATAATACCAATA CCGAGTTATCCACAGTATTAGTCTGTTTCCATGCACAAATCTGTCCTTCC CCAGTTACCTGCTTTTCTGTATGGTAGCCCAGAGGTGAGATGAGGGGCTC TGTTCCTGTCTCTTGTTTCCTTTACACCATCCAGGTGACACTGGCTGCAG CCTTCAAG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00558.hp1 others(142): Show HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG04115.hp1 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18983.hp1 NA18983.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022	a0001c0001 a0001c0003 a0001c0020 others(34): Show a0001c0001 a0001c0003 a0001c0020 a0001c0021 a0001c0037 a0001c0039 a0001c0040 a0002c0002 a0002c0013 a0002c0019 a0002c0031 a0003c0006 a0003c0018 a0003c0023 a0003c0029 a0004c0009 a0004c0017 a0004c0027 a0005c0004 a0006c0011 a0006c0012 a0007c0005 a0009c0007 a0010c0010 a0011c0015 a0012c0016 a0013c0014 a0014c0035 a0014c0038 a0015c0022 a0016c0026 a0017c0030 a0018c0025 a0019c0034 a0020c0033 a0021c0036 a0022c0032	a0001c0001t0001 a0001c0001t0014 a0001c0003t0001 others(38): Show a0001c0001t0001 a0001c0001t0014 a0001c0003t0001 a0001c0020t0001 a0001c0021t0001 a0001c0037t0001 a0001c0039t0001 a0001c0040t0001 a0002c0002t0001 a0002c0002t0009 a0002c0013t0001 a0002c0019t0001 a0002c0019t0009 a0002c0031t0001 a0003c0006t0004 a0003c0018t0002 a0003c0023t0004 a0003c0029t0015 a0004c0009t0001 a0004c0009t0010 a0004c0017t0001 a0004c0027t0001 a0005c0004t0001 a0006c0011t0002 a0006c0012t0007 a0007c0005t0005 a0009c0007t0006 a0010c0010t0008 a0011c0015t0002 a0012c0016t0002 a0013c0014t0002 a0014c0035t0002 a0014c0038t0016 a0015c0022t0011 a0016c0026t0017 a0017c0030t0001 a0018c0025t0001 a0019c0034t0001 a0020c0033t0001 a0021c0036t0001 a0022c0032t0001	a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0037 others(136): Show a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0037 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0014g0007 a0001c0003t0001g0017 a0001c0003t0001g0045 a0001c0003t0001g0050 a0001c0003t0001g0054 a0001c0003t0001g0056 a0001c0003t0001g0060 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0081 a0001c0003t0001g0082 a0001c0003t0001g0087 a0001c0003t0001g0114 a0001c0020t0001g0061 a0001c0020t0001g0075 a0001c0021t0001g0041 a0001c0021t0001g0042 a0001c0037t0001g0070 a0001c0039t0001g0066 a0001c0040t0001g0057 a0002c0002t0001g0003 a0002c0002t0001g0038 a0002c0002t0001g0090 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0097 a0002c0002t0001g0103 a0002c0002t0001g0105 a0002c0002t0001g0109 a0002c0002t0001g0118 a0002c0002t0009g0009 a0002c0013t0001g0043 a0002c0013t0001g0092 a0002c0013t0001g0108 a0002c0019t0001g0096 a0002c0019t0009g0008 a0002c0031t0001g0091 a0003c0006t0004g0011 a0003c0006t0004g0012 a0003c0006t0004g0013 a0003c0006t0004g0026 a0003c0006t0004g0027 a0003c0006t0004g0028 a0003c0018t0002g0010 a0003c0023t0004g0032 a0003c0029t0015g0019 a0004c0009t0001g0126 a0004c0009t0001g0128 a0004c0009t0001g0129 a0004c0009t0010g0127 a0004c0009t0010g0130 a0004c0017t0001g0029 a0004c0017t0001g0031 a0004c0027t0001g0034 a0005c0004t0001g0004 a0005c0004t0001g0098 a0005c0004t0001g0099 a0005c0004t0001g0101 a0005c0004t0001g0102 a0005c0004t0001g0107 a0005c0004t0001g0119 a0006c0011t0002g0005 a0006c0011t0002g0124 a0006c0011t0002g0125 a0006c0012t0007g0020 a0006c0012t0007g0021 a0006c0012t0007g0022 a0006c0012t0007g0023 a0007c0005t0005g0001 a0007c0005t0005g0148 a0007c0005t0005g0149 a0007c0005t0005g0150 a0007c0005t0005g0151 a0009c0007t0006g0142 a0009c0007t0006g0143 a0009c0007t0006g0144 a0009c0007t0006g0145 a0009c0007t0006g0146 a0009c0007t0006g0147 a0010c0010t0008g0024 a0010c0010t0008g0025 a0010c0010t0008g0035 a0010c0010t0008g0036 a0011c0015t0002g0080 a0012c0016t0002g0067 a0012c0016t0002g0077 a0012c0016t0002g0078 a0013c0014t0002g0002 a0013c0014t0002g0110 a0014c0035t0002g0123 a0014c0038t0016g0058 a0015c0022t0011g0014 a0015c0022t0011g0015 a0016c0026t0017g0033 a0017c0030t0001g0112 a0018c0025t0001g0030 a0019c0034t0001g0039 a0020c0033t0001g0117 a0021c0036t0001g0040 a0022c0032t0001g0100	145	158	0.9177	457	c.-11 others(466): Show c.-118_-117insCTTGAAGGCTGCAGCCAGTGTCACCTGGATGGTGTA AAGGAAACAAGAGACAGGAACAGAGCCCCTCATCTCACCTCTGGGCTACC ATACAGAAAAGCAGGTAACTGGGGAAGGACAGATTTGTGCATGGAAACAG ACTAATACTGTGGATAACTCGGTATTGGTATTATTAAAGCTTTTTTTTTT TTTAAGTAGAGTGCTTTAAAAGCCATATTAGAGAAAAAAAGACATTCGAA ACTATTACCAAGGAATATCGTACAATCTTTCCACATAGGCTTTTGAAGTA GCAAACAATACTTCTAGGATAACTAGATGGTCTGATGAGTTCTTTTAATG CTGGAATTCTATGAAGACTTTTCAATCTATGTTTTCTAATTTAAATGATT AAATTTTAAATCATTTAACCCTGCCACTCTATGTGGCAAAGAACGCTGGG AGCAAATTACTTCTGCTGCTC	ABCC11	ENSG00000121270.16	transcript	ENST00000356608.7	protein_coding	1/30	15492		chr16	TogoVar
ARHGAP39_chr8_144524179_144690846	144687120	C C	CCCCGTGA others(450): Show CCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCCGTGACCACAC ACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCAC TTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGAC CACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGCG AGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCC GTGACCACGCACTGGCGGCGAGCACTTCCCACCCCCGTGACCACACACTG GCGGCGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCACTTC CCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCAC ACACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGC ACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	246	0.0041	457	c.-15 others(468): Show c.-1517_-1516insTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGG GTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGC CGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTC ACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAG TGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTG CGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTG GGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGC CAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACG GGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCT CGCCGCCAGTGCGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1275		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687405	A A	ACCCCCGT others(450): Show ACCCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACA CACTAGCGGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCA CTTCCCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGA CCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGC GAGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCC CGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTG GCGGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCACTTCC CACCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACA CACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCA CTTCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	246	0.0041	457	c.-18 others(468): Show c.-1802_-1801insGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGG GGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCG CCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGT CACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGT GCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGT GTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTGG GAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCC AGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGG GGTGGGAAGTGCTCGCCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCG CCGCCAGTGCGTGGTCACGGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1560		chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825105	C C	CCCCCCGC others(450): Show CCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCC CACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCT CGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCCGCAC CCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCA CCTGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGC ACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCCCACCTGT TTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCACCCGCACT CCACCTGT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0004 a0001c0016t0004	a0001c0016t0004g0176 a0001c0016t0004g0176	1	363	0.0028	457	c.-48 others(472): Show c.-48+997_-48+998insGCACCCCACCTGTCCCCCTGCACCCCACCT GTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCAC CCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCC CCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTTCACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTGC ACCCCACCTGTTCACCTGCACCCCACCTGTCCCCCCGCACCCCACCTGTC CCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCC ACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCC CACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACC TGTTCACCCGCACTCCACCTGTCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825105	C C	CCCCCCGC others(450): Show CCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCC CACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCT CGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTTCACCCGCACCCCACCTGTCCCCCCGCAC CCCACCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCC CCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGC ACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCCCACCTGT TTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCACCCGCACT CCACCTGT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0155 a0001c0155	a0001c0155t0003 a0001c0155t0003	a0001c0155t0003g0179 a0001c0155t0003g0179	1	363	0.0028	457	c.-48 others(472): Show c.-48+997_-48+998insGCACCCCACCTGTCCCCCTGCACCCCACCT GTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCAC CCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCC CCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCCGCACCCCAC CTGTCCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCTGC ACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTC CCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCC ACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCC CACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACC TGTTCACCCGCACTCCACCTGTCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
C1QTNF12_chr1_1237453_1251722	1245158	C C	CCTCTGCC others(450): Show CCTCTGCCCTCCTCCCCCTTCCCCCTCCTCCCCCCACTCCTCTCCCCTCT TCCCCCGACTCCTTCCCCTACTCATCTCCCTCCTCCCCCACTCCTCTCCC CTCCTCTCCCACTCCTCCCCCTCCTCCCCCACTCCTCCCCCCCCACTGCT CTCCCCCTCTTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCCTTCTCCA CTCCTCTCCCCTCCCACTCCTCCCCCACTCCTGTCCCTCCTCCCCCCTCT TCCCCCTCCTCCCCCCACTCCTCATCTCCCTCCTCCCCACTTCCTCTCCC CTCTTCCCCCCACTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCTTGCC CCCACTCCTCCCCCACTCCTTCCCCACTCCTCTCCTCTCTTCCCCCCACT CCTCCCCCACTCCTCTCCCCTCCTCCCCCACTCCTCTCCCCTCCTCCCCC ACTCCTCT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	328	0.0031	457	c.178 others(472): Show c.178-662_178-661insAGAGGAGTGGGGGAGGAGGGGAGAGGAGTG GGGGAGGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGGAAGAGAGGAGAGG AGTGGGGAAGGAGTGGGGGAGGAGTGGGGGCAAGAGGGGAGAGGAGTGGG GGAGGAGTGGGGGGAGTGGGGGGAAGAGGGGAGAGGAAGTGGGGAGGAGG GAGATGAGGAGTGGGGGGAGGAGGGGGAAGAGGGGGGAGGAGGGACAGGA GTGGGGGAGGAGTGGGAGGGGAGAGGAGTGGAGAAGGAGGGGAGAGGAGT GGGGGAGGAGTGGGGGGAAGAGGGGGAGAGCAGTGGGGGGGGAGGAGTGG GGGAGGAGGGGGAGGAGTGGGAGAGGAGGGGAGAGGAGTGGGGGAGGAGG GAGATGAGTAGGGGAAGGAGTCGGGGGAAGAGGGGAGAGGAGTGGGGGGA GGAGGGGGAAGGGGGAGGAGGGCAGAG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	1/7			chr1	TogoVar
C20orf96_chr20_265863_295750	279137	A A	AGGGACGG others(450): Show AGGGACGGAGGGAGGGAGGGCGGGAGGGAGGGAGGGACGGAGGGTGGGAG GGAGGGAGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGG AGGGACGGAGGGCGGGAGGGAGGGAGGGAGGGAGGGCGGGAGGGAGGGAG GGACGGAGGGTGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGCGGGAGGG CGGGACGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGAGGGCG GGAGGGCGGGACGGAGGGACGGAGGGCGGGAGGGAGGGAGGGACGGAGGG CGGGAGGGAGGGAGGGACGGAGGGCGGGAGGGAGGGAGGGAGGGCGGGAC GGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGG ACGGAGGGCGGGGAGGGCGGGACGGAGGGAGGGCGGGACGGAGGGACGGA GGGAGGGC	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	410	0.0024	457	c.465 others(470): Show c.465+34_465+35insGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCC TCCGTCCCGCCCTCCCCGCCCTCCGTCCCTCCCTCCCTCCGTCCCTCCGT CCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCC CGCCCTCCGTCCCTCCCTCCCTCCCGCCCTCCGTCCCTCCCTCCCTCCCG CCCTCCGTCCCTCCGTCCCGCCCTCCCGCCCTCCCTCCCTCCCTCCGTCC CTCCGTCCCGCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCT CCCTCCCTCCCTCCCACCCTCCGTCCCTCCCTCCCTCCCGCCCTCCCTCC CTCCCTCCCTCCCGCCCTCCGTCCCTCCCTCCCTCCGTCCCGCCCTCCCG CCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCACCCTCCGTCCCTCCCTCC CTCCCGCCCTCCCTCCCTCCGTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
CALN1_chr7_71774491_72417338	72114242	T T	TGGGAAGG others(450): Show TGGGAAGGGAAGGGAAGGGAAGGGAAGGGAGTAAAAATAAAAGTGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GAAGGGAAGGGAAGGGAAGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGG AAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG AAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG AAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG AAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG AAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG AAGGGAAG	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0013 a0001c0001t0028g0013	1	142	0.0070	457	c.245 others(474): Show c.245-7949_245-7948insCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTCCCTTCCCTTCCCTTCCCTTCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCACTTTTATTTTTAC TCCCTTCCCTTCCCTTCCCTTCCCTTCCC	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAPN11_chr6_44153820_44189401	44181785	A A	ACACTCAC others(450): Show ACACTCACACACACACACTCACATACAGACACAACCACACCACACTCTCA CACACACACTCACATACAGACACAACCACACCACACCACACACACACACA CTCACATACAGACACAACCACACCACACTCACACACACACACTCACATAC AGACACAACCACACCACACACACACACTCACATACAGACACAACCACACC ACACTCACACATACACACTCACATACAGACACAACCACACCACACTCACA CACACACACTCACATACAGACACAACCACACCACACTCACACACACACAC TCACATACAGACACAACCACACCACACTCACACACACACACAGACACAAC CACACCACACTCACACACACACACACTCACATACAGACACAACCACACCA CACACACACACACACACAGACACAACCACACCACACACACACCCAACCAC ACCACACT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02155.hp1 HG02040.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0394 a0001c0001t0002g0021 a0001c0001t0002g0394	2	460	0.0044	457	c.193 others(474): Show c.1938+468_1938+469insTCACACACACACACTCACATACAGACAC AACCACACCACACTCTCACACACACACTCACATACAGACACAACCACACC ACACCACACACACACACACTCACATACAGACACAACCACACCACACTCAC ACACACACACTCACATACAGACACAACCACACCACACACACACACTCACA TACAGACACAACCACACCACACTCACACATACACACTCACATACAGACAC AACCACACCACACTCACACACACACACTCACATACAGACACAACCACACC ACACTCACACACACACACTCACATACAGACACAACCACACCACACTCACA CACACACACAGACACAACCACACCACACTCACACACACACACACTCACAT ACAGACACAACCACACCACACACACACACACACACAGACACAACCACACC ACACACACACCCAACCACACCACACTCAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP72_chr5_607340_658553	650982	C C	CTGTGAGG others(450): Show CTGTGAGGGGTGACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGC GTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTG AGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGAC TGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCAT GGACTGTGAGGTGTGACTGAGGTGTGACTGAGGTGTGACTGTGAGGCGTG GACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGG CGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGT GAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGA CTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGAGGTGTG ACTGTGGG	intron_variant intron_variant	MODIFIER	HG01258.hp2 NA18971.hp2 NA19065.hp2 HG01258.hp2 NA18971.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0062	3	91	0.0330	457	c.177 others(476): Show c.1779-1999_1779-1998insGGTGACTGTGAGGCGTGGACTGTGAG GCGTGGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACT GTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTG ACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGG TGTGACTGTGAGGCATGGACTGTGAGGTGTGACTGAGGTGTGACTGAGGT GTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTG AGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGAC TGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGT GACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAG GTGTGACTGAGGTGTGACTGTGGGTGTGAGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	650984	G G	GTGAGGGG others(450): Show GTGAGGGGTGACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGCGT GGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAG GTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTG TGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCATGG ACTGTGAGGTGTGACTGAGGTGTGACTGAGGTGTGACTGTGAGGCGTGGA CTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCG TGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGA GGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACT GTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGAGGTGTGAC TGTGGGTG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	91	0.0110	457	c.177 others(476): Show c.1779-1999_1779-1998insGGTGACTGTGAGGCGTGGACTGTGAG GCGTGGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACT GTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTG ACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGG TGTGACTGTGAGGCATGGACTGTGAGGTGTGACTGAGGTGTGACTGAGGT GTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTG AGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGAC TGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGT GACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAG GTGTGACTGAGGTGTGACTGTGGGTGTGAGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP61_chr20_20047532_20365698	20357451	A A	ACTGAGGG others(450): Show ACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGA GGTGGTCACAGTGTGAGGGGAGATGGTCACACTGAGGGGAGGTGGTCACA GTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGG AGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAG TGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGA GATGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACA CTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAG GTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAGGTG GTCATACT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0135 a0005c0008t0001g0135	1	236	0.0042	457	c.351 others(476): Show c.3514-2759_3514-2758insCTGAGGGGAGGTGGTCACAGTGTGAG GGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGATGGT CACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGG GGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTC ACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGG GAGGTGGTCACAGTGTGAGGGGAGATGGTCACACTGAGGGGAGGTGGTCA CAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGG GGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCAT AGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGAGGA GGTGGTCACACTGAGGGGAGGTGGTCATACT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26			chr20	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(450): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATA TTTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATTAAAATAAATATTTATTTTATTTATTTTAATATATAAAAT ATTTTATT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG03927.hp2 HG02148.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0247 a0001c0001t0023g0123 a0001c0001t0001g0247 a0001c0001t0023g0123	2	402	0.0050	457	c.80- others(472): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTA TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATTAAAATAAATATTTATTTTATTTATTTTAATATATAAAATATTT TATTTATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHST13_chr3_126519155_126548291	126539875	A A	ACACACCC others(450): Show ACACACCCCAAACCACACATGGACCCTCCACACACCACACACACACCACA CATTCCACACAAGCACACTACACCACACAAGCACACCACACGCATACCAC ACAAAAATGCCACACATTCCCACACACCACAAACACACCACCCACATGAC ACACACTACACACACACCACACACCATATATGCCACACACAACACACACA ACACACGCTACACACACACCCCATACACACACACCACACACACCAGACAC ACACAAACACCACACACACCAGACACAACACACAACACACACACACCACA GGTGTGCACCACACACACACCACATGCACACAGACATACCACCTACCAAA AGTGTGCACCACACGCACCACGTGCATACCAACACACACCACACACACCA TACAGACACACCACACACACCACACACACTCCATACACATACAACACACA ACACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	364	0.0028	457	c.181 others(474): Show c.181-1853_181-1852insCCCAAACCACACATGGACCCTCCACACA CCACACACACACCACACATTCCACACAAGCACACTACACCACACAAGCAC ACCACACGCATACCACACAAAAATGCCACACATTCCCACACACCACAAAC ACACCACCCACATGACACACACTACACACACACCACACACCATATATGCC ACACACAACACACACAACACACGCTACACACACACCCCATACACACACAC CACACACACCAGACACACACAAACACCACACACACCAGACACAACACACA ACACACACACACCACAGGTGTGCACCACACACACACCACATGCACACAGA CATACCACCTACCAAAAGTGTGCACCACACGCACCACGTGCATACCAACA CACACCACACACACCATACAGACACACCACACACACCACACACACTCCAT ACACATACAACACACAACACACACCACAC	CHST13	ENSG00000180767.11	transcript	ENST00000319340.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHST13_chr3_126519155_126548291	126539875	A A	ACACACCC others(450): Show ACACACCCCAAACCACACATGGACCCTCCACACACCACACACACACCACA CATTCCACACAAGCACACTACACCACACAAGCACACCACACGCATACCAC ACAAAAATGCCACACATTCCCACACACCACAAACACACCACCCACATGAC ACACACTACACACACACCACACACCATATATGCCACACACAACACACACA ACACACGCTACACACACACCCCATACACACACACCACACACACCAGACAC ACACAAACACCACACACACCAGACACAACACACAACACACACACACCACA GGTGTGCACCACACACACACCACATGCACACAGACATACCACCTACCAAA AGTGTGCACCACACGCACCACGTGCATACCAACACACACCACACGCACCA TACAGACACACCACACACACCACACACACTCCATACACATACAACACACA ACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0115 a0003c0007t0001g0115	1	364	0.0028	457	c.181 others(474): Show c.181-1853_181-1852insCCCAAACCACACATGGACCCTCCACACA CCACACACACACCACACATTCCACACAAGCACACTACACCACACAAGCAC ACCACACGCATACCACACAAAAATGCCACACATTCCCACACACCACAAAC ACACCACCCACATGACACACACTACACACACACCACACACCATATATGCC ACACACAACACACACAACACACGCTACACACACACCCCATACACACACAC CACACACACCAGACACACACAAACACCACACACACCAGACACAACACACA ACACACACACACCACAGGTGTGCACCACACACACACCACATGCACACAGA CATACCACCTACCAAAAGTGTGCACCACACGCACCACGTGCATACCAACA CACACCACACGCACCATACAGACACACCACACACACCACACACACTCCAT ACACATACAACACACAACACACACCACAC	CHST13	ENSG00000180767.11	transcript	ENST00000319340.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHST13_chr3_126519155_126548291	126539875	A A	ACACACCC others(450): Show ACACACCCCAAACCACACATGGACCCTCCACACACCACACACACACCACA CATTCCACACAAGCACACTACACCACACAAGCACACCACACGCATACCAC ACAAAAATGCCACACATTCCCACACACCACAAACACACCACCCACATGAC ACACACTACACACACACCACACACCATATATGCCACACACAACACACACA ACACACGCTACACACACACCCCATACACACACACCACACACACCAGACAC ACACAAACACCACACACACCAGACACAACACACAACACACACACACCACA GGTGTGCACCACACACACACCACATGCACAGACATACCACCTACCAAAAG TGTGCACCACACGCACCACGTGCATACCAACACACACCACACACACCATA CAGACACACCACACACACACCACACACACTCCATACACATACAACACACA ACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01358.hp1 HG01358.hp2 others(17): Show HG00735.hp1 HG01358.hp1 HG01358.hp2 HG02258.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03209.hp2 HG03225.hp1 HG03490.hp1 HG03654.hp2 HG03942.hp2 NA18522.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0017 a0003c0005t0001g0019 a0003c0005t0001g0032 others(9): Show a0003c0005t0001g0017 a0003c0005t0001g0019 a0003c0005t0001g0032 a0003c0005t0001g0038 a0003c0005t0001g0077 a0003c0005t0001g0080 a0003c0005t0001g0081 a0003c0005t0001g0082 a0003c0005t0001g0110 a0003c0005t0001g0111 a0003c0005t0001g0112 a0003c0005t0001g0113	20	364	0.0550	457	c.181 others(474): Show c.181-1853_181-1852insCCCAAACCACACATGGACCCTCCACACA CCACACACACACCACACATTCCACACAAGCACACTACACCACACAAGCAC ACCACACGCATACCACACAAAAATGCCACACATTCCCACACACCACAAAC ACACCACCCACATGACACACACTACACACACACCACACACCATATATGCC ACACACAACACACACAACACACGCTACACACACACCCCATACACACACAC CACACACACCAGACACACACAAACACCACACACACCAGACACAACACACA ACACACACACACCACAGGTGTGCACCACACACACACCACATGCACAGACA TACCACCTACCAAAAGTGTGCACCACACGCACCACGTGCATACCAACACA CACCACACACACCATACAGACACACCACACACACACCACACACACTCCAT ACACATACAACACACAACACACACCACAC	CHST13	ENSG00000180767.11	transcript	ENST00000319340.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL27A1_chr9_114150537_114317511	114278403	T T	TGGTGATA others(450): Show TGGTGATAGTGGGGGTGGGAGTGGAGTGGAGGTGAGGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGATGGTGGTTGGTGGTGGTGATGGTGGT GGTGGTTGGTGGTGGTGATGATGGCGGGGGTGATGGTGGTGATGATGATG GCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGAT GATGGCGGGGGTGGTGGTGGTGATGTTGATGGCGGGGGTGGTGGTGGTGA TGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTG GTGATGATGATGGCGGGGGTGGTGGTGGTGATGTTGATGGCGGGGGTGGT GGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGTTGATGGCGGGGG TGGTGGTGGTGATGATGATGGCAGGGGTGGTGGTGGTGGTGATGATGGTG GGGGTGGG	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0255 a0003c0005t0004g0255	1	308	0.0033	457	c.371 others(476): Show c.3717+2639_3717+2640insATAGTGGGGGTGGGAGTGGAGTGGAG GTGAGGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGT TGGTGGTGGTGATGGTGGTGGTGGTTGGTGGTGGTGATGATGGCGGGGGT GATGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGG GGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGTTGATG GCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGAT GATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGA TGTTGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTG GTGATGTTGATGGCGGGGGTGGTGGTGGTGATGATGATGGCAGGGGTGGT GGTGGTGGTGATGATGGTGGGGGTGGGGGTG	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	37/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(450): Show TGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGT GGGGGGGTGGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTG GGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	367	0.0027	457	c.-42 others(468): Show c.-4257_-4256insGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTG AGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGGTGAGGGAGTCGGGTGGGG GTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCG GGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGGTGAGGGAGTTGGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DECR2_chr16_396885_417482	397709	T T	TGAGGGAG others(450): Show TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02818.hp2 HG03540.hp2 HG02451.hp2 HG02818.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0026 a0001c0001t0001g0035	3	367	0.0082	457	c.-42 others(468): Show c.-4255_-4254insGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGTG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4175		chr16	TogoVar
DECR2_chr16_396885_417482	397716	G G	GTGAGGGA others(450): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGAGTGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	367	0.0027	457	c.-42 others(468): Show c.-4248_-4247insTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGAGTGGGGGGTGGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGC	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4168		chr16	TogoVar
DENND1C_chr19_6462207_6486787	6479350	T T	TGTGTCCC others(450): Show TGTGTCCCTGAGTCCCTGTGTCCCTGAGTCCCTGGGTCCCTGAGTCCCTG TGTCCCTGTGTCCCTGTGTCCCTGAGTCCCTGTGTCCCTGAGTCCCTGGG TCCCTGGGTCCCTGGGTCCCTGGGTCCCTGAGTCCCTGTGTCCCTGAGTC CCTGGGTCCCTGAGTCCCTGTGTCCCTGTGTCCCTGTGTCCCTGAGTCCC TGTGTCCCTGAGTCCCTGGGTCCCTGAGTCCCTGAGTCCCTGTGTCCCTG AGTCCCTGTGTCCCTGTGTCCCTGAGTCCCTGTGTCCCTGGGTCCCTGTG TCCCTGTGTCCCTGGGTCCCTGGGTCCCTGTGTCCCTGTGTCCCTGGGTC CCTGGGTCCCTGAGTCCCTGTGTCCCTGAGTCCCTGAGTCCCTGTGTCCC TGTGTCCCTGAGTCCCTGTGTCCCTGTGTCCCTGTGTCCCTGGGTCCCTG TGTCCCTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0341 a0002c0003t0004g0341	1	420	0.0024	457	c.177 others(472): Show c.177-295_177-294insCAGGGACACAGGGACCCAGGGACACAGGGA CACAGGGACACAGGGACTCAGGGACACAGGGACACAGGGACTCAGGGACT CAGGGACACAGGGACTCAGGGACCCAGGGACCCAGGGACACAGGGACACA GGGACCCAGGGACCCAGGGACACAGGGACACAGGGACCCAGGGACACAGG GACTCAGGGACACAGGGACACAGGGACTCAGGGACACAGGGACTCAGGGA CTCAGGGACCCAGGGACTCAGGGACACAGGGACTCAGGGACACAGGGACA CAGGGACACAGGGACTCAGGGACCCAGGGACTCAGGGACACAGGGACTCA GGGACCCAGGGACCCAGGGACCCAGGGACCCAGGGACTCAGGGACACAGG GACTCAGGGACACAGGGACACAGGGACACAGGGACTCAGGGACCCAGGGA CTCAGGGACACAGGGACTCAGGGACAC	DENND1C	ENSG00000205744.10	transcript	ENST00000381480.7	protein_coding	4/22			chr19	TogoVar
DGKD_chr2_233349494_233477098	233396898	A A	AAGAGGAC others(450): Show AAGAGGACACCAGAGGGGACCAGGGTGGCTGGGGGGGGCAGAGCGAGAGG ACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGCGCCAGAGTGAGAGGACT CCAGAGGGGACCAGGGTGGCTGGTAGAGGCCAGAGTGAGAGGACACCAGA GGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGA GCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGACCAGG GTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGAGCAGGGTGGC TGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGG GGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGG GGGCGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGTAGAGG CCAGAGTG	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA19081.hp2 HG02071.hp1 NA19081.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0013 a0001c0002 a0006c0013	a0001c0002t0003 a0006c0013t0004 a0001c0002t0003 a0006c0013t0004	a0001c0002t0003g0119 a0006c0013t0004g0097 a0001c0002t0003g0119 a0006c0013t0004g0097	2	336	0.0060	457	c.348 others(474): Show c.348+6437_348+6438insGGTGGCTGGGGGGGGCAGAGCGAGAGGA CTCCAGAGGGGACCAGGGTGGCTGGGGGGGGCGCCAGAGTGAGAGGACTC CAGAGGGGACCAGGGTGGCTGGTAGAGGCCAGAGTGAGAGGACACCAGAG GGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGAG CAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGACCAGGG TGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGAGCAGGGTGGCT GGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGG GGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGG GGCGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGTAGAGGC CAGAGTGAGAGGACACCAGAGGGGACCAG	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233396898	A A	AAGAGGAC others(450): Show AAGAGGACACCAGAGGGGACCAGGGTGGCTGGGGGGGGCAGAGCGAGAGG ACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGCGCCAGAGTGAGAGGACT CCAGAGGGGACCAGGGTGGCTGGTAGAGGCCAGAGTGAGAGGACACCAGA GGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGA GCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGACCAGG GTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGAGCAGGGTGGC TGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGG GGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGG GGGCGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGTAGAGG CCAGAGTG	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0109 a0001c0002t0004g0109	1	336	0.0030	457	c.348 others(474): Show c.348+6437_348+6438insGGTGGCTGGGGGGGGCAGAGCGAGAGGA CTCCAGAGGGGACCAGGGTGGCTGGGGGGGGCGCCAGAGTGAGAGGACTC CAGAGGGGACCAGGGTGGCTGGTAGAGGCCAGAGTGAGAGGACACCAGAG GGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGAG CAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGACCAGGG TGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGAGCAGGGTGGCT GGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGG GGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGG GGCGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGTAGAGGC CAGAGTGAGAGGACACCAGAGGGGACCAG	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIDO1_chr20_62872743_62931505	62875320	C C	CCACCCCC others(450): Show CCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCGCACCCGCACCCCCAC CCGCACCCGCACCCCCACCCCCACCCCGACCCCCACCCGCACCCCCACCC CCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCGCACCCCC ACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCCCAC CCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCCACC CCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCCCACCCCCACCCG CACCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCA CCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACC CCCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0128 a0005c0005t0002g0128	1	320	0.0031	457	c.39 others(468): Show c.3912_*3913insCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGG TGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTG GGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGG GGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGGTGGGGGTGGGGGTGCGG GTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGT GCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGCGGGTGG GGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTCGGG GTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGT GCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGC GGGTGGGGGTGGGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2422		chr20	TogoVar
DIP2C_chr10_269201_694668	556156	G G	GCACCCAC others(450): Show GCACCCACCCACCCCTCCCACAGCCGGATCCGAGGACAGCACCCACCCCT CCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCAGA TCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGC ACCCACCCACCCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACC CCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCC GGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGAC GGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCA CCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAG CCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGG ACGGCACC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0077 a0001c0007t0002g0077	1	88	0.0114	457	c.86- others(474): Show c.86-69627_86-69626insGGTGCCGTCCTGGGATCCGGCTGTGGGA GGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGG TGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGG ATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGG GAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTG GGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTG GGATCCGGCTGTGGGAGGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTG TGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCTGGCTGTGGGAGGGGTGG GTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGCTGTCCTCG GATCCGGCTGTGGGAGGGGTGGGTGGGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP1_chr18_3491032_4460307	4087104	C C	CATACATG others(450): Show CATACATGTATATATACACATATATACATACATGTATATATACACATATA TACATACATGTATATATACACATATATACATACATGTATATATACACATA TATACATACATGTATATATACACATATATACATACATGTATATATACACA TATATACATACATGTATATATACACATATATACATACATGTATATATACA CATATATACATACATGTATATATACACATATATACATATATGTATATATA CACATATATACATATATGTATATATACACATATATACATATATGTATATA TACACATATATACATATATGTATATATACACATATATACATATATGTATA TATACACATATATACATATATGTATATATACACATATATACATATATGTA TATATACACATATATACATATATGTATATATACACATATATACATATACA CACACACA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0012 a0001c0004t0001g0012	1	80	0.0125	457	c.-15 others(478): Show c.-159+64075_-159+64076insTGTGTGTGTGTATATGTATATATG TGTATATATACATATATGTATATATGTGTATATATACATATATGTATATA TGTGTATATATACATATATGTATATATGTGTATATATACATATATGTATA TATGTGTATATATACATATATGTATATATGTGTATATATACATATATGTA TATATGTGTATATATACATATATGTATATATGTGTATATATACATATATG TATATATGTGTATATATACATGTATGTATATATGTGTATATATACATGTA TGTATATATGTGTATATATACATGTATGTATATATGTGTATATATACATG TATGTATATATGTGTATATATACATGTATGTATATATGTGTATATATACA TGTATGTATATATGTGTATATATACATGTATGTATATATGTGTATATATA CATGTATGTATATATGTGTATATATACATGTAT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	2/12			chr18	TogoVar
DPEP1_chr16_89608642_89643433	89619597	T T	TCCCCTCC others(450): Show TCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCT GCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGC TCCCCTCCCTGCAGCCCGCTTTCCCCCTGCCCCCCTGCTCCCCTCCCTGC AGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTC CCCTCTCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGC CCCCCTGCTCCCCTCTCTGCAGCCCGCTTTCCCCCTGCCCCCCTGCTCCC CTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCTCTGCAGCCCCCTGCCC CCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAG CCCCCTGC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0049 a0003c0004t0002g0049	1	250	0.0040	457	c.-10 others(476): Show c.-107+5882_-107+5883insTCCCTGCAGCTCCCTGCCCCCCCGCT CCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCAT GCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCGCTTTCCCCCTGCC CCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCA GCTCCCTGCCCCCCCGCTCCCCTCTCTGCAGCCCCCTGCCCCCCTGCTCC CCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCTCTGCAGCCCGCTTTC CCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCC TCTCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCC CCCGCTCCCCTCCCTGCAGCCCCCTGCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EIPR1_chr2_3183970_3382818	3331228	T T	TAGTGTCA others(450): Show TAGTGTCAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTCAGCAG AGGCAGGTGTGTATACACCCATGAGATGGTGTGAGCAGAGGCAGGTGTGT ATACACCCATGAGATGGTGTGAGCAGAGGCAGGTGTGTATACACCCATGA GATGGTGTGAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTCAGC AGAGGCAGGTGTGTATACACCCATGAGATGGTGTCAGCAGAGGCAGGTGT GTATACACCCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCCAT GAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTCA GCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTCAGCAGAGGCAGGT GTGTATACACCCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCC ATGAGATG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01496.hp1 HG01256.hp1 HG01258.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085	3	250	0.0120	457	c.259 others(474): Show c.259+6788_259+6789insCATCTCATGGGTGTATACACACCTGCCT CTGCTGACACCATCTCATGGGTGTATACACACCTGCCTCTGCTGACACCA TCTCATGGGTGTATACACACCTGCCTCTGCTGACACCATCTCATGGGTGT ATACACACCTGCCTCTGCTGACACCATCTCATGGGTGTATACACACCTGC CTCTGCTGACACCATCTCATGGGTGTATACACACCTGCCTCTGCTGACAC CATCTCATGGGTGTATACACACCTGCCTCTGCTGACACCATCTCATGGGT GTATACACACCTGCCTCTGCTCACACCATCTCATGGGTGTATACACACCT GCCTCTGCTCACACCATCTCATGGGTGTATACACACCTGCCTCTGCTCAC ACCATCTCATGGGTGTATACACACCTGCCTCTGCTGACACCATCTCATGG GTGTATACACACCTGCCTCTGCTGACACT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
FBN2_chr5_128252909_128543245	128539754	C C	CATATATA others(450): Show CATATATAACATATGATATATATATCATATATATCATATATATTATATCA TATATATTATATCATATATCATATATATGATATATATGATAGATCATATA TTATATCATATATATCATATATATGATAGATCATATATGATCTATCATAT ATATCATATCATATATATCATATATCACATATATCATATATCACATATAT CATATATATCATATATCACATATATCATATATATCATATATCATATATAT CATATATCACATATATCATATATATCACATATCATATATATCACATATCA TATATATCATATATCATATATCATATATATCATATATCATATATATCATA TATATCATATATCATATATATCATATATATCATATATCATATATATCATA TATATCATATATCATATATATCATATATATCATATATCATATATATCATA TATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0029 a0003c0029	a0003c0029t0027 a0003c0029t0027	a0003c0029t0027g0118 a0003c0029t0027g0118	1	236	0.0042	457	c.-21 others(468): Show c.-2152_-2151insATGATATATATGATATATATGATATATGATATAT ATGATATATATGATATATGATATATATGATATATATGATATATGATATAT ATGATATATATGATATATGATATATATGATATATATGATATATGATATAT ATGATATATGATATATGATATATATGATATGTGATATATATGATATGTGA TATATATGATATATGTGATATATGATATATATGATATATGATATATATGA TATATGTGATATATGATATATATGATATATGTGATATATGATATATGTGA TATATGATATATATGATATGATATATATGATAGATCATATATGATCTATC ATATATATGATATATATGATATAATATATGATCTATCATATATATCATAT ATATGATATATGATATAATATATATGATATAATATATATGATATATATGA TATATATATCATATGTTATATAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1510		chr5	TogoVar
FBXO34_chr14_55266421_55358611	55332023	T T	TACACCAC others(450): Show TACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTG TATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATAT ATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCG TGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAA AATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACAC CACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATAT ATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATA TACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTG TATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATAT ATATATAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	334	0.0030	457	c.-10 others(476): Show c.-10-18356_-10-18355insACCACCGTGGTGTATATATAAAAATA TATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACC GTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAA AAATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACA CCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATA TATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATAT ATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGT GTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATA TATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACC GTGGTGTATATATAAAAATATATATATACAC	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FOXQ1_chr6_1307098_1319758	1317225	C C	CCCTCCCC others(450): Show CCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCC CCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCC ACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCATCCCTC CTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGC CCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTC CAGCCTACCCCCTCCCCCCGCCCACCCCCCTCCCGCCCCCCTCCAGCCTA CCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCCCCCCAGCCTACCCCC TCCCCCCGCCCACCCCCTCCTCCCGCCCCCTCCAGCCTACCCCTCCCCCC GCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCCCCCGCCCACCCCTCC TCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0000 a0003c0002t0003g0000	1	406	0.0025	457	c.33 others(468): Show c.3309_*3310insCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTC CAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTA CCCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCC CCCCGCCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCC CACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCT CCTCCCGCCCCCCTCCAGCCTACCCCCTCCCCCCGCCCACCCCCCTCCCG CCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCC CCCCAGCCTACCCCCTCCCCCCGCCCACCCCCTCCTCCCGCCCCCTCCAG CCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCC CCCGCCCACCCCTCCTCCCGCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2468		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(450): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCA TCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCT CCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTCCTCCCG CCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCCCCTCCCGCCCCCC TCCAGCCTACCCCCTCCCCCGCCCACCCCCCTCCCGCCCCCCTCCAGCCT ACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCCCCCCAGCCTACCCC CTCCCCCCGCCCACCCCCTCCTCCCGCCCCCTCCAGCCTATCCCTCCCCC CGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCCCCCGCCCACCCCCC TCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 NA20752.hp1 HG01070.hp2 HG01071.hp1 NA20752.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0000 a0002c0004t0001g0000	3	406	0.0074	457	c.33 others(468): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTAC CCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCC CCCCGCCCACCCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCAC CCACCTCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACC CCCCTCCCGCCCCCCTCCAGCCTACCCCCTCCCCCGCCCACCCCCCTCCC GCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCC CCCCCAGCCTACCCCCTCCCCCCGCCCACCCCCTCCTCCCGCCCCCTCCA GCCTATCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCC CCCCGCCCACCCCCCTCCCGCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2469		chr6	TogoVar
GABRA3_chrX_152161234_152456315	152182738	C C	CACTATAT others(450): Show CACTATATATACACTATATATGTATAGTATATATACACTATATATAGTGT ATATATACACTATATATATAGTGTATATACACTATATATATAGTATATAT ACACTATATATATAGTATATATACACTATATATACACTATATATGTATAT ATATACATATATAGTGTATATATAGTGTATATATACACTGTATATGTATA TATAGTGTATATATACACTATATATACACTGTATATGTATATATAGTGTA TATATACACTATACACTGTATATGTATATATAGTGTATATATACACTATA CACTGTATATGTATATATAGTGTATATATACACTATACACTGTATATGTA TATATAGTGTATATATACACTATACACTGTATATGTATATATAGTGTATA TATACACTATATATACACTATATAGTGTATATATAGTATATATATACTGT ATATATAT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	204	0.0049	457	c.114 others(476): Show c.1143+6991_1143+6992insATATATATACAGTATATATATACTAT ATATACACTATATAGTGTATATATAGTGTATATATACACTATATATACAT ATACAGTGTATAGTGTATATATACACTATATATACATATACAGTGTATAG TGTATATATACACTATATATACATATACAGTGTATAGTGTATATATACAC TATATATACATATACAGTGTATAGTGTATATATACACTATATATACATAT ACAGTGTATATATAGTGTATATATACACTATATATACATATACAGTGTAT ATATACACTATATATACACTATATATGTATATATATACATATATAGTGTA TATATAGTGTATATATACTATATATATAGTGTATATATACTATATATATA GTGTATATACACTATATATATAGTGTATATATACACTATATATAGTGTAT ATATACTATACATATATAGTGTATATATAGT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GAL3ST2_chr2_241771822_241809287	241807278	A A	ACCCTCGG others(450): Show ACCCTCGGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCGCAGGC CACCCTCCCTCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACCTCGGCAGGCCACCCCTCCCTCCCCCTCAACCAG GGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCTGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGATGTCTGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCG GCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTT CCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCA ACCCAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0010 a0002c0002t0002g0010	1	314	0.0032	457	c.31 others(468): Show c.3112_*3113insCCCTCGGCAGGCCACCCTCCCTCCCCCTCAGCCC AGGGACCTCGCAGGCCACCCTCCCTCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCGGCAGGCCACCCCTCC CTCCCCCTCAACCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACC CAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGATGTCT GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGATGTCTGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTC AACCCAGGGACCTCGGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCAC CCTCCCTCCCCCTCAACCCAGGG	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2992		chr2	TogoVar
GNAL_chr18_11684264_11890685	11874556	C C	CTGCACTC others(450): Show CTGCACTCCAGCCTGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAA AAAAAAGTGCAGACTTATGCATGGTGACAGGAAGCACATCGGTGGTTGCC TCAGGAAGGAGGGCTGCAGAGGGAATGCAGGCGCTGTGGGAGGGTCCGGC TGTGCTCATTGTTTCCATGTAGTGATGCTGGCATGACAACACACACGCCA GAACTCCTCAGACGGGCCAGGCGTGGTGGCTCACACCTATAATCCCAACA CTTTGGGAGTCTGAGGCGTGCAGATCACCTGAGGTCAGGAGTTCAAGACC AGCGTGGCCAACACGGTGAAACCCCATCTCTACTAAAAACACAAAAATTA GCCAGGCATGGTGGCCAGCACCTATAATCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCAGTGAGCCGAGAT TGCACCAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01099.hp1 HG01433.hp1 others(6): Show HG01081.hp1 HG01099.hp1 HG01433.hp1 HG01952.hp1 HG02145.hp1 HG02258.hp2 HG02572.hp1 HG03098.hp1 HG03540.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0002 a0001c0001t0060 a0001c0001t0112 others(5): Show a0001c0001t0002 a0001c0001t0060 a0001c0001t0112 a0001c0001t0133 a0001c0001t0155 a0001c0001t0172 a0002c0002t0005 a0003c0004t0064	a0001c0001t0002g0172 a0001c0001t0002g0219 a0001c0001t0060g0247 others(6): Show a0001c0001t0002g0172 a0001c0001t0002g0219 a0001c0001t0060g0247 a0001c0001t0112g0110 a0001c0001t0133g0202 a0001c0001t0155g0023 a0001c0001t0172g0094 a0002c0002t0005g0045 a0003c0004t0064g0005	9	248	0.0363	457	c.116 others(476): Show c.1163-2050_1163-2049insTGACAGAGCGAGACTCCATCTCAAAA AAAAAAAAAAAAAAGTGCAGACTTATGCATGGTGACAGGAAGCACATCGG TGGTTGCCTCAGGAAGGAGGGCTGCAGAGGGAATGCAGGCGCTGTGGGAG GGTCCGGCTGTGCTCATTGTTTCCATGTAGTGATGCTGGCATGACAACAC ACACGCCAGAACTCCTCAGACGGGCCAGGCGTGGTGGCTCACACCTATAA TCCCAACACTTTGGGAGTCTGAGGCGTGCAGATCACCTGAGGTCAGGAGT TCAAGACCAGCGTGGCCAACACGGTGAAACCCCATCTCTACTAAAAACAC AAAAATTAGCCAGGCATGGTGGCCAGCACCTATAATCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCAGTGA GCCGAGATTGCACCATTGCACTCCAGCCTGG	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11684264_11890685	11874556	C C	CTGCACTC others(450): Show CTGCACTCCAGCCTGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAA AAAAAAGTGCAGACTTATGCATGGTGACAGGAAGCACATCGGTGGTTGCC TCGGGAAGGAGGGCTGCAGAGGGAATGCAGACGCTGTGGGAGGGTCCGGC TGTGCTCATTGTTTCCATGTAGTGATGCTGGCATGACAACACACACGCCA GAACTCCTCAGACGGGCCAGGCGTGGTGGCTCACACCTATAATCCCAACA CTTTGGGAGTCTGAGGCGTGCAGATCACCTGAGGTCAGGAGTTCAAGACC AGCGTGGCCAACACGGTGAAACCCCATCTCTACTAAAAACACAAAAATTA GCCAGGCATGGTGGCCAGCACCTATAATCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCAGTGAGCCGAGAT TGCACCCT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0128 a0001c0001t0128	a0001c0001t0128g0179 a0001c0001t0128g0179	1	248	0.0040	457	c.116 others(476): Show c.1163-2050_1163-2049insTGACAGAGCGAGACTCCATCTCAAAA AAAAAAAAAAAAAAGTGCAGACTTATGCATGGTGACAGGAAGCACATCGG TGGTTGCCTCGGGAAGGAGGGCTGCAGAGGGAATGCAGACGCTGTGGGAG GGTCCGGCTGTGCTCATTGTTTCCATGTAGTGATGCTGGCATGACAACAC ACACGCCAGAACTCCTCAGACGGGCCAGGCGTGGTGGCTCACACCTATAA TCCCAACACTTTGGGAGTCTGAGGCGTGCAGATCACCTGAGGTCAGGAGT TCAAGACCAGCGTGGCCAACACGGTGAAACCCCATCTCTACTAAAAACAC AAAAATTAGCCAGGCATGGTGGCCAGCACCTATAATCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCAGTGA GCCGAGATTGCACCCTTGCACTCCAGCCTGG	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11684264_11890685	11874556	C C	CTGCACTC others(450): Show CTGCACTCCAGCCTGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAA AAAAAAGTGCAGACTTATGCATGGTGACAGGAAGCACATCGGTGGTTGCC TCGGGAAGGAGGGCTGCAGAGGGAATGCAGGCGCTGTGGGAGGGTCCGGC TGTGCTCATTGTTTCCATGTAGTGATGCTGGCATGACAACACACACGCCA GAACTCCTCAGACGGGCCAGGCGTGGTGGCTCACACCTATAATCCCAACA CTTTGGGAGTCTGAGGCGTGCAGATCACCTGAGGTCAGGAGTTCAAGACC AGCGTGGCCAACACGGTGAAACCCCATCTCTACTAAAAACACAAAAATTA GCCAGGCATGGTGGCCAGCACCTATAATCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCAGTGAGCCGAGAT TGCACCAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02559.hp2 HG02886.hp2 others(6): Show HG01433.hp2 HG02559.hp2 HG02886.hp2 HG03139.hp1 HG04204.hp2 NA18965.hp1 NA18965.hp2 NA20129.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0036 a0001c0001t0059 others(6): Show a0001c0001t0015 a0001c0001t0036 a0001c0001t0059 a0001c0001t0070 a0001c0001t0079 a0001c0001t0118 a0001c0001t0127 a0001c0001t0138 a0001c0001t0149	a0001c0001t0015g0206 a0001c0001t0036g0066 a0001c0001t0059g0062 others(6): Show a0001c0001t0015g0206 a0001c0001t0036g0066 a0001c0001t0059g0062 a0001c0001t0070g0148 a0001c0001t0079g0099 a0001c0001t0118g0210 a0001c0001t0127g0209 a0001c0001t0138g0186 a0001c0001t0149g0160	9	248	0.0363	457	c.116 others(476): Show c.1163-2050_1163-2049insTGACAGAGCGAGACTCCATCTCAAAA AAAAAAAAAAAAAAGTGCAGACTTATGCATGGTGACAGGAAGCACATCGG TGGTTGCCTCGGGAAGGAGGGCTGCAGAGGGAATGCAGGCGCTGTGGGAG GGTCCGGCTGTGCTCATTGTTTCCATGTAGTGATGCTGGCATGACAACAC ACACGCCAGAACTCCTCAGACGGGCCAGGCGTGGTGGCTCACACCTATAA TCCCAACACTTTGGGAGTCTGAGGCGTGCAGATCACCTGAGGTCAGGAGT TCAAGACCAGCGTGGCCAACACGGTGAAACCCCATCTCTACTAAAAACAC AAAAATTAGCCAGGCATGGTGGCCAGCACCTATAATCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCAGTGA GCCGAGATTGCACCATTGCACTCCAGCCTGG	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11747085_11890685	11874556	C C	CTGCACTC others(450): Show CTGCACTCCAGCCTGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAA AAAAAAGTGCAGACTTATGCATGGTGACAGGAAGCACATCGGTGGTTGCC TCAGGAAGGAGGGCTGCAGAGGGAATGCAGGCGCTGTGGGAGGGTCCGGC TGTGCTCATTGTTTCCATGTAGTGATGCTGGCATGACAACACACACGCCA GAACTCCTCAGACGGGCCAGGCGTGGTGGCTCACACCTATAATCCCAACA CTTTGGGAGTCTGAGGCGTGCAGATCACCTGAGGTCAGGAGTTCAAGACC AGCGTGGCCAACACGGTGAAACCCCATCTCTACTAAAAACACAAAAATTA GCCAGGCATGGTGGCCAGCACCTATAATCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCAGTGAGCCGAGAT TGCACCAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp2 HG01433.hp1 others(6): Show HG01081.hp2 HG01099.hp2 HG01433.hp1 HG01952.hp2 HG02145.hp2 HG02258.hp1 HG02572.hp2 HG03098.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0048 a0001c0001t0089 others(4): Show a0001c0001t0001 a0001c0001t0048 a0001c0001t0089 a0001c0001t0101 a0001c0001t0128 a0001c0001t0148 a0001c0001t0149	a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0161 others(6): Show a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0161 a0001c0001t0048g0230 a0001c0001t0089g0069 a0001c0001t0101g0271 a0001c0001t0128g0110 a0001c0001t0148g0187 a0001c0001t0149g0235	9	284	0.0317	457	c.932 others(474): Show c.932-2050_932-2049insTGACAGAGCGAGACTCCATCTCAAAAAA AAAAAAAAAAAAGTGCAGACTTATGCATGGTGACAGGAAGCACATCGGTG GTTGCCTCAGGAAGGAGGGCTGCAGAGGGAATGCAGGCGCTGTGGGAGGG TCCGGCTGTGCTCATTGTTTCCATGTAGTGATGCTGGCATGACAACACAC ACGCCAGAACTCCTCAGACGGGCCAGGCGTGGTGGCTCACACCTATAATC CCAACACTTTGGGAGTCTGAGGCGTGCAGATCACCTGAGGTCAGGAGTTC AAGACCAGCGTGGCCAACACGGTGAAACCCCATCTCTACTAAAAACACAA AAATTAGCCAGGCATGGTGGCCAGCACCTATAATCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCAGTGAGC CGAGATTGCACCATTGCACTCCAGCCTGG	GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11747085_11890685	11874556	C C	CTGCACTC others(450): Show CTGCACTCCAGCCTGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAA AAAAAAGTGCAGACTTATGCATGGTGACAGGAAGCACATCGGTGGTTGCC TCGGGAAGGAGGGCTGCAGAGGGAATGCAGACGCTGTGGGAGGGTCCGGC TGTGCTCATTGTTTCCATGTAGTGATGCTGGCATGACAACACACACGCCA GAACTCCTCAGACGGGCCAGGCGTGGTGGCTCACACCTATAATCCCAACA CTTTGGGAGTCTGAGGCGTGCAGATCACCTGAGGTCAGGAGTTCAAGACC AGCGTGGCCAACACGGTGAAACCCCATCTCTACTAAAAACACAAAAATTA GCCAGGCATGGTGGCCAGCACCTATAATCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCAGTGAGCCGAGAT TGCACCCT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0172 a0001c0001t0038g0172	1	284	0.0035	457	c.932 others(474): Show c.932-2050_932-2049insTGACAGAGCGAGACTCCATCTCAAAAAA AAAAAAAAAAAAGTGCAGACTTATGCATGGTGACAGGAAGCACATCGGTG GTTGCCTCGGGAAGGAGGGCTGCAGAGGGAATGCAGACGCTGTGGGAGGG TCCGGCTGTGCTCATTGTTTCCATGTAGTGATGCTGGCATGACAACACAC ACGCCAGAACTCCTCAGACGGGCCAGGCGTGGTGGCTCACACCTATAATC CCAACACTTTGGGAGTCTGAGGCGTGCAGATCACCTGAGGTCAGGAGTTC AAGACCAGCGTGGCCAACACGGTGAAACCCCATCTCTACTAAAAACACAA AAATTAGCCAGGCATGGTGGCCAGCACCTATAATCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCAGTGAGC CGAGATTGCACCCTTGCACTCCAGCCTGG	GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11747085_11890685	11874556	C C	CTGCACTC others(450): Show CTGCACTCCAGCCTGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAA AAAAAAGTGCAGACTTATGCATGGTGACAGGAAGCACATCGGTGGTTGCC TCGGGAAGGAGGGCTGCAGAGGGAATGCAGGCGCTGTGGGAGGGTCCGGC TGTGCTCATTGTTTCCATGTAGTGATGCTGGCATGACAACACACACGCCA GAACTCCTCAGACGGGCCAGGCGTGGTGGCTCACACCTATAATCCCAACA CTTTGGGAGTCTGAGGCGTGCAGATCACCTGAGGTCAGGAGTTCAAGACC AGCGTGGCCAACACGGTGAAACCCCATCTCTACTAAAAACACAAAAATTA GCCAGGCATGGTGGCCAGCACCTATAATCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCAGTGAGCCGAGAT TGCACCAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02559.hp1 HG02886.hp1 others(6): Show HG01433.hp2 HG02559.hp1 HG02886.hp1 HG03139.hp1 HG04204.hp2 NA18965.hp1 NA18965.hp2 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0033 a0001c0001t0037 others(6): Show a0001c0001t0005 a0001c0001t0033 a0001c0001t0037 a0001c0001t0047 a0001c0001t0052 a0001c0001t0054 a0001c0001t0059 a0001c0001t0132 a0001c0002t0024	a0001c0001t0005g0055 a0001c0001t0033g0021 a0001c0001t0037g0245 others(6): Show a0001c0001t0005g0055 a0001c0001t0033g0021 a0001c0001t0037g0245 a0001c0001t0047g0244 a0001c0001t0052g0058 a0001c0001t0054g0093 a0001c0001t0059g0026 a0001c0001t0132g0242 a0001c0002t0024g0083	9	284	0.0317	457	c.932 others(474): Show c.932-2050_932-2049insTGACAGAGCGAGACTCCATCTCAAAAAA AAAAAAAAAAAAGTGCAGACTTATGCATGGTGACAGGAAGCACATCGGTG GTTGCCTCGGGAAGGAGGGCTGCAGAGGGAATGCAGGCGCTGTGGGAGGG TCCGGCTGTGCTCATTGTTTCCATGTAGTGATGCTGGCATGACAACACAC ACGCCAGAACTCCTCAGACGGGCCAGGCGTGGTGGCTCACACCTATAATC CCAACACTTTGGGAGTCTGAGGCGTGCAGATCACCTGAGGTCAGGAGTTC AAGACCAGCGTGGCCAACACGGTGAAACCCCATCTCTACTAAAAACACAA AAATTAGCCAGGCATGGTGGCCAGCACCTATAATCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCAGTGAGC CGAGATTGCACCATTGCACTCCAGCCTGG	GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11747085_11890685	11874556	C C	CTGCACTC others(450): Show CTGCACTCCAGCCTGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAA AAAAAGTGCAGACTTATGCATGGTGACAGGAAGCACATCGGTGGTTGCCT CGGGAAGGAGGGCTGCAGAGGGAATGCAGGCGCTGTGGGAGGGTCCGGCT GTGCTCATTGTTTCCATGTAGTGATGCTGGCATGACAACACACACGCCAG AACTCCTCAGACGGGCCAGGCGTGGTGGCTCACACCTATAATCCCAACAC TTTGGGAGTCTGAGGCGTGCAGATCACCTGAGGTCAGGAGTTCAAGACCA GCGTGGCCAACACGGGTGAAACCCCATCTCTACTAAAAACACAAAAATTA GCCAGGCATGGTGGCCAGCACCTATAATCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCAGTGAGCCGAGAT TGCACCCT	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0004 a0001c0001t0022g0004	1	284	0.0035	457	c.932 others(474): Show c.932-2050_932-2049insTGACAGAGCGAGACTCCATCTCAAAAAA AAAAAAAAAAAGTGCAGACTTATGCATGGTGACAGGAAGCACATCGGTGG TTGCCTCGGGAAGGAGGGCTGCAGAGGGAATGCAGGCGCTGTGGGAGGGT CCGGCTGTGCTCATTGTTTCCATGTAGTGATGCTGGCATGACAACACACA CGCCAGAACTCCTCAGACGGGCCAGGCGTGGTGGCTCACACCTATAATCC CAACACTTTGGGAGTCTGAGGCGTGCAGATCACCTGAGGTCAGGAGTTCA AGACCAGCGTGGCCAACACGGGTGAAACCCCATCTCTACTAAAAACACAA AAATTAGCCAGGCATGGTGGCCAGCACCTATAATCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCAGTGAGC CGAGATTGCACCCTTGCACTCCAGCCTGG	GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GPIHBP1_chr8_143208218_143222170	143218179	A A	AACACCAC others(450): Show AACACCACCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAAC ACCACCCCAACACCACCCCAACACCACCCCCAACACCACCCCAACACCAC CCCAACACCACCCCCAACACCATCCCCAACACCACCCCAACACCACCCCC AACACCACCCCAACACCACCCCAACACCACCCCAACACCACCCCCAACAC CATCCCCAACACCACCCCCAACACCATCCCCAACACCCCAATAACCCCCC AACACCACCCCAACACCACCCCCAATACCACCCCCACCACCCCCAACACC ACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCACC CCAACACCACCCCCAACACCATCCCCAACACCACCCCAACACCACCCCCA ACACCACCCCCAACACCATCCCCAACACCACCCCAACACCACCCCCAACA CCACCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	106	0.0094	457	c.26 others(468): Show c.2661_*2662insACACCACCCCAACACCACCCCCAACACCACCCCC AACACCACCCCCAACACCACCCCAACACCACCCCAACACCACCCCCAACA CCACCCCAACACCACCCCAACACCACCCCCAACACCATCCCCAACACCAC CCCAACACCACCCCCAACACCACCCCAACACCACCCCAACACCACCCCAA CACCACCCCCAACACCATCCCCAACACCACCCCCAACACCATCCCCAACA CCCCAATAACCCCCCAACACCACCCCAACACCACCCCCAATACCACCCCC ACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACAC CACCCCAACACCACCCCAACACCACCCCCAACACCATCCCCAACACCACC CCAACACCACCCCCAACACCACCCCCAACACCATCCCCAACACCACCCCA ACACCACCCCCAACACCACCCAC	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1010		chr8	TogoVar
GPR157_chr1_9095305_9134102	9116199	A A	ATATATAT others(450): Show ATATATATTTATATTATATATATTATATATAATATAATTATATATATTTA TATTATATATATTATATATAATTATATATAATTATATTATATATATTATA TTATATATAATTATATATAATTATATTATATATATTATATTATATATAAT TATATATAATTATATTATATATTATATGTAATATAAATATATATAATTAT ATTATATATATTATATGTAATATAATTATATATATTTATATTATATATAT TATATATAATATAATTATATATATTTATATTATATATATTATATATAATA TAATTATATATAATTATATTATATATATTATATTATATATAATTATATAT AATTATATTATATATATTATATTATATATAATTATATATAATTATATTAT ATATTATATGTAATATAAATATATATAATTATATTATATATATTATATGT AATATAAT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0191 a0001c0001t0010g0191	1	404	0.0025	457	c.384 others(474): Show c.384-4711_384-4710insATTATATTACATATAATATATATAATAT AATTATATATATTTATATTACATATAATATATAATATAATTATATATAAT TATATATAATATAATATATATAATATAATTATATATAATTATATATAATA TAATATATATAATATAATTATATATAATTATATTATATATAATATATATA ATATAAATATATATAATTATATTATATATAATATATATAATATAAATATA TATAATTATATTACATATAATATATATAATATAATTATATATATTTATAT TACATATAATATATAATATAATTATATATAATTATATATAATATAATATA TATAATATAATTATATATAATTATATATAATATAATATATATAATATAAT TATATATAATTATATATAATATATATAATATAAATATATATAATTATATT ATATATAATATATATAATATAAATATATA	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GPR173_chrX_53043789_53085615	53073903	A A	ATATATAT others(450): Show ATATATATAAATATATATATTTATATTTATTTTTATATATATAAATATAT ATATTTATATATATAAATAAATATAAATATATATATTTATATGTATATAT ATAAATATATATATTTATATATATATATTTTATACATATAAATATATATT ATAAATATATATTTATACATATAAATATATATTATAAATATATATATTTA TATTTATTTATATATATAAATATATATATTTATATATATAAATATATATA TTTATATATATAAATATATATATTTATATATAAATATATATATTTATATA TATAAATATATATATTTATATATAAATATATATATTTATATTTATTTCTA TATATAAATATATATATTTATATATATAAATATATATTTATATATATAAA TATATATATTTATATTTATAAATATATATATTTATATATATTTATATTTA TATATATT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0014 a0001c0002t0019g0014	1	208	0.0048	457	c.-97 others(474): Show c.-97-2605_-97-2604insATTTATATTTATTTTTATATATATAAAT ATATATATTTATATATATAAATAAATATAAATATATATATTTATATGTAT ATATATAAATATATATATTTATATATATATATTTTATACATATAAATATA TATTATAAATATATATTTATACATATAAATATATATTATAAATATATATA TTTATATTTATTTATATATATAAATATATATATTTATATATATAAATATA TATATTTATATATATAAATATATATATTTATATATAAATATATATATTTA TATATATAAATATATATATTTATATATAAATATATATATTTATATTTATT TCTATATATAAATATATATATTTATATATATAAATATATATTTATATATA TAAATATATATATTTATATTTATAAATATATATATTTATATATATTTATA TTTATATATATTTATATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073903	A A	ATATATAT others(450): Show ATATATATAAATATATATATTTATATTTATTTTTATATATATAAATATAT ATATTTATATATATATAAATAAATATAAATATATATATTTATATGTATAT ATATAAATATATATATTTGTATATATATAAATATATATATTTATATATAT ATATTTTATACATATAAATATATATTATAAATATATATTTATACATATAA ATATATATTATAAATATATATATTTATATTTATTTATATATATAAATATA TATATTTATATATATAAATATATATATTTATATATATAAATATATATATT TATATTTATTTATATATATATAAATATATATTTATATATAAATATATATA TTTATATTTATTTCTATATATAAATATATATATTTATATATATAAATATA TATTTATATATATAAATATATATATTTATATATATAAATATATATATTTA TATATATT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19088.hp1 NA19085.hp1 NA19088.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0016 a0001c0003t0002g0017 a0001c0003t0002g0016 a0001c0003t0002g0017	2	208	0.0096	457	c.-97 others(474): Show c.-97-2605_-97-2604insATTTATATTTATTTTTATATATATAAAT ATATATATTTATATATATATAAATAAATATAAATATATATATTTATATGT ATATATATAAATATATATATTTGTATATATATAAATATATATATTTATAT ATATATATTTTATACATATAAATATATATTATAAATATATATTTATACAT ATAAATATATATTATAAATATATATATTTATATTTATTTATATATATAAA TATATATATTTATATATATAAATATATATATTTATATATATAAATATATA TATTTATATTTATTTATATATATATAAATATATATTTATATATAAATATA TATATTTATATTTATTTCTATATATAAATATATATATTTATATATATAAA TATATATTTATATATATAAATATATATATTTATATATATAAATATATATA TTTATATATATTTATATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073903	A A	ATATATAT others(450): Show ATATATATAAATATATATATTTATATTTATTTTTATATATATAAATATAT ATATTTATATATATATAAATAAATATAAATATATATATTTATATGTATAT ATATAAATATATATATTTGTATATATATAAATATATATATTTATATATAT ATATTTTATACATATAAATATATATTATAAATATATATTTATACATATAA ATATATATTATAAATATATATATTTATATTTATTTATATATATAAATATA TATATTTATATATATAAATATATATATTTATATATATAAATATATATATT TATATTTATTTATATATATATAAATATATATTTATATATAAATATATATA TTTATATTTATTTCTATATATAAATATATATATTTATATATATAAATATA TATTTATATATATAAATATATATATTTATATTTATAAATATATATATTTA TATATATT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18988.hp1 NA19074.hp1 others(1): Show NA18965.hp1 NA18988.hp1 NA19074.hp1 NA19087.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0056 a0001c0003t0058 a0001c0003t0002 a0001c0003t0056 a0001c0003t0058	a0001c0003t0002g0015 a0001c0003t0002g0018 a0001c0003t0056g0020 others(1): Show a0001c0003t0002g0015 a0001c0003t0002g0018 a0001c0003t0056g0020 a0001c0003t0058g0019	4	208	0.0192	457	c.-97 others(474): Show c.-97-2605_-97-2604insATTTATATTTATTTTTATATATATAAAT ATATATATTTATATATATATAAATAAATATAAATATATATATTTATATGT ATATATATAAATATATATATTTGTATATATATAAATATATATATTTATAT ATATATATTTTATACATATAAATATATATTATAAATATATATTTATACAT ATAAATATATATTATAAATATATATATTTATATTTATTTATATATATAAA TATATATATTTATATATATAAATATATATATTTATATATATAAATATATA TATTTATATTTATTTATATATATATAAATATATATTTATATATAAATATA TATATTTATATTTATTTCTATATATAAATATATATATTTATATATATAAA TATATATTTATATATATAAATATATATATTTATATTTATAAATATATATA TTTATATATATTTATATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073903	A A	ATATATAT others(450): Show ATATATATAAATATATATATTTATATTTATTTTTATATATATAAATATAT ATATTTATATATATATAAATAAATATAAATATATATATTTATATGTATAT ATATAAATATATATATTTGTATATATATAAATATATATATTTATATATAT ATATTTTATACATATAAATATATATTATAAATATATATTTATACATATAA ATATATATTATAAATATATATATTTATATTTATTTATATATATAAATATA TATATTTATATATATAAATATATATATTTATATATATAAATATATATATT TATATTTATTTATATATATATAAATATATATTTATATATAAATATATATA TTTATATTTATTTCTATATATAAATATATATATTTCTATATATAAATATA TATTTATATATATAAATATATATATTTATATTTATAAATATATATATTTA TATATATT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0023 a0001c0003t0002g0023	1	208	0.0048	457	c.-97 others(474): Show c.-97-2605_-97-2604insATTTATATTTATTTTTATATATATAAAT ATATATATTTATATATATATAAATAAATATAAATATATATATTTATATGT ATATATATAAATATATATATTTGTATATATATAAATATATATATTTATAT ATATATATTTTATACATATAAATATATATTATAAATATATATTTATACAT ATAAATATATATTATAAATATATATATTTATATTTATTTATATATATAAA TATATATATTTATATATATAAATATATATATTTATATATATAAATATATA TATTTATATTTATTTATATATATATAAATATATATTTATATATAAATATA TATATTTATATTTATTTCTATATATAAATATATATATTTCTATATATAAA TATATATTTATATATATAAATATATATATTTATATTTATAAATATATATA TTTATATATATTTATATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074119	T T	TATAAATA others(450): Show TATAAATATATATAAATATACATGTATATTTATTCATATATAAATATATA TAAATATACATGTATATTATTCATATATAAATATATGTAAATATACATGT ATATTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCAT ATATAAATATATGTAAATATACATGTATATTTATTCATATATAAATATAT GTAAATATACATGTATATTTATTCATATATAAATATATGTAAATATACAT GTATATTTATTCATATATAAATATATGTAAATATACATGTATATTTATTC ATATATAAATATATGTAAATATACATGTATATTTATTCATATATAAATAT ATGTAAATATACATGTATATTTATTCATATATAAATATATGTAAATATAC ATGTATATTTATTCATATAGAAATATATGTAAATATACATGTATATTTAT TCATATAG	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0184 a0001c0001t0046g0184	1	208	0.0048	457	c.-97 others(474): Show c.-97-2405_-97-2404insTAAATATATATAAATATACATGTATATT TATTCATATATAAATATATATAAATATACATGTATATTATTCATATATAA ATATATGTAAATATACATGTATATTTATTCATATATAAATATATGTAAAT ATACATGTATATTTATTCATATATAAATATATGTAAATATACATGTATAT TTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATATAT AAATATATGTAAATATACATGTATATTTATTCATATATAAATATATGTAA ATATACATGTATATTTATTCATATATAAATATATGTAAATATACATGTAT ATTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATAT ATAAATATATGTAAATATACATGTATATTTATTCATATAGAAATATATGT AAATATACATGTATATTTATTCATATAGA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GTPBP6_chrX_299759_323796	323687	T T	TGTGTGTG others(450): Show TGTGTGTGTGTGTGTGTAGCCGTCAATCTCCTGGGCTCCTGGGTTCCGTC TGCCCTGTTCATAGAGACGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAG GGACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCGGTCAGTCTCCTG GGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGATGGAATGAGGGTGTCC CCAGGTGGTGAGCTCAGGGACGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTAGCCGTCAGTCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAG AGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGACGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTAGCCGTCAATCTCCTGGGCTCCTGGGTTCC GTCTGCCCTGTTCATAGAGACGGAATGAGGGCGTCCCCAGGTGGTGAGCT CAGGGACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0024 a0005c0010t0001g0024	1	155	0.0065	457	c.-49 others(468): Show c.-4901_-4900insCGTCCCTGAGCTCACCACCTGGGGACGCCCTCAT TCCGTCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGATTGAC GGCTACACACACACACACACACACACACACACACGTCCCTGAGCTCACCA CCTGGGGACGCCCTCATTCCATCTCTATGAACAGGGCAGACGGAACCCAG GAGCCCAGGAGACTGACGGCTACACACACACACACACACACACACACACA CACGTCCCTGAGCTCACCACCTGGGGACACCCTCATTCCATCTCTATGAA CAGGGCAGACGGAACCCAGGAGCCCAGGAGACTGACCGCTACACACACAC ACACACACACACACACACACGTCCCTGAGCTCACCACCTGGGGACGCCCT CATTCCGTCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGATT GACGGCTACACACACACACACAC	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		4892		chrX	TogoVar

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