Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
TDP2_chr6_24644979_24671899	24648981	T T	TCACCACG others(432): Show TCACCACGCCTGGCTAATTTTTTTGTGTTTTTAGTAGAGACGGGGTTTCA CCATGTTGATCAGGCTGGTCTCTAACTCCTGACCTCGTGATCCGCCTGTC TTGGCCTCACAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCC TAAAAGTGGTTTGTTTCTATACACTTCATTTATAATTTTTTAGATTTTGT CATACGCAGTATACAAGAAGGTATTTCATGTAGATGCTGTGACTTATATA AAGGAAATGAAACGTCCACGGTTTTAAAACAATTTGACAATTATTTATTT ATTTTTGAGACAGAGTTTCACTCTTCTCGCCCAGGCTGGAGTGTAATGGC AAGATCACGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCC TGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0021 a0004c0006t0001g0021	1	418	0.0024	439	c.18 others(450): Show c.1806_*1807insGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCT GAAGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGT GATCTTGCCATTACACTCCAGCCTGGGCGAGAAGAGTGAAACTCTGTCTC AAAAATAAATAAATAATTGTCAAATTGTTTTAAAACCGTGGACGTTTCAT TTCCTTTATATAAGTCACAGCATCTACATGAAATACCTTCTTGTATACTG CGTATGACAAAATCTAAAAAATTATAAATGAAGTGTATAGAAACAAACCA CTTTTAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGTGA GGCCAAGACAGGCGGATCACGAGGTCAGGAGTTAGAGACCAGCCTGATCA ACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAAAATTAGCCAGGCG TGGTG	TDP2	ENSG00000111802.14	transcript	ENST00000378198.9	protein_coding		997		chr6	TogoVar
TDP2_chr6_24644979_24671899	24648981	T T	TCACCACG others(432): Show TCACCACGCCTGGCTAATTTTTTTGTGTTTTTAGTAGAGACGGGGTTTCA CCATGTTGATCAGGCTGGTCTCTAACTCCTGACCTCGTGATCCGCCTGTC TTGGCCTCACAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCC TAAAAGTGGTTTGTTTCTATACACTTCATTTATAATTTTTTAGATTTTGT CATACGCAGTATACAAGAAGGTATTTCATGTAGATGCTGTGACTTATATA AAGGAAATGAAACGTCCATGGTTTTAAAACAATTTGACAATTATTTATTT ATTTTTGAGACAGAGTTTCACTCTTCTCGCCCAGGCTGGAGTGTAATGGC AAGATCACGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCC TGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(333): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0003 a0001c0005 others(8): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0002c0009 a0003c0004 a0004c0006 a0005c0012 a0006c0007 a0007c0011 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0006 a0001c0003t0008 a0001c0005t0006 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0002c0002t0013 a0002c0009t0007 a0003c0004t0003 a0004c0006t0001 a0005c0012t0001 a0006c0007t0003 a0007c0011t0001 a0008c0010t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(126): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0123 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0002g0107 a0001c0001t0003g0033 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0078 a0001c0001t0003g0092 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0140 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0004g0019 a0001c0001t0004g0047 a0001c0001t0004g0095 a0001c0001t0004g0098 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0005g0105 a0001c0001t0006g0090 a0001c0001t0007g0099 a0001c0001t0007g0142 a0001c0001t0009g0049 a0001c0001t0010g0141 a0001c0001t0010g0147 a0001c0001t0011g0054 a0001c0001t0014g0096 a0001c0001t0015g0157 a0001c0003t0001g0012 a0001c0003t0001g0113 a0001c0003t0001g0115 a0001c0003t0001g0120 a0001c0003t0001g0121 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0002g0118 a0001c0003t0005g0114 a0001c0003t0005g0124 a0001c0003t0006g0035 a0001c0003t0008g0024 a0001c0005t0006g0017 a0001c0005t0006g0083 a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0016 a0002c0002t0001g0020 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0002g0025 a0002c0002t0003g0014 a0002c0002t0003g0073 a0002c0002t0003g0131 a0002c0002t0003g0132 a0002c0002t0003g0133 a0002c0002t0004g0070 a0002c0002t0007g0015 a0002c0002t0013g0128 a0002c0009t0007g0127 a0003c0004t0003g0009 a0003c0004t0003g0026 a0003c0004t0003g0052 a0003c0004t0003g0151 a0003c0004t0003g0152 a0003c0004t0003g0155 a0004c0006t0001g0021 a0005c0012t0001g0156 a0006c0007t0003g0056 a0007c0011t0001g0100 a0008c0010t0001g0067	336	418	0.8038	439	c.18 others(450): Show c.1806_*1807insGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCT GAAGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGT GATCTTGCCATTACACTCCAGCCTGGGCGAGAAGAGTGAAACTCTGTCTC AAAAATAAATAAATAATTGTCAAATTGTTTTAAAACCATGGACGTTTCAT TTCCTTTATATAAGTCACAGCATCTACATGAAATACCTTCTTGTATACTG CGTATGACAAAATCTAAAAAATTATAAATGAAGTGTATAGAAACAAACCA CTTTTAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGTGA GGCCAAGACAGGCGGATCACGAGGTCAGGAGTTAGAGACCAGCCTGATCA ACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAAAATTAGCCAGGCG TGGTG	TDP2	ENSG00000111802.14	transcript	ENST00000378198.9	protein_coding		997		chr6	TogoVar
TDP2_chr6_24644979_24671899	24648981	T T	TCACCACG others(432): Show TCACCACGCCTGGCTAATTTTTTTGTGTTTTTAGTAGAGACGGGGTTTCA CCATGTTGATCAGGCTGGTCTCTAACTCCTGACCTCGTGATCCGCCTGTC TTGGCCTCACAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCC TAAAAGTGGTTTGTTTCTATACACTTCATTTATAATTTTTTAGATTTTGT CATACGCAGTATACAAGAAGGTATTTCATGTAGATGCTGTGACTTATATA AAGGAAATGAAACGTCCATGGTTTTAAAACAATTTGACAATTATTTATTT ATTTTTGAGACAGAGTTTCACTCTTCTCGCCCAGGCTGGAGTGTAATGGC AAGATGACGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCC TGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0129 a0002c0002t0002g0129	1	418	0.0024	439	c.18 others(450): Show c.1806_*1807insGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCT GAAGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGT CATCTTGCCATTACACTCCAGCCTGGGCGAGAAGAGTGAAACTCTGTCTC AAAAATAAATAAATAATTGTCAAATTGTTTTAAAACCATGGACGTTTCAT TTCCTTTATATAAGTCACAGCATCTACATGAAATACCTTCTTGTATACTG CGTATGACAAAATCTAAAAAATTATAAATGAAGTGTATAGAAACAAACCA CTTTTAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGTGA GGCCAAGACAGGCGGATCACGAGGTCAGGAGTTAGAGACCAGCCTGATCA ACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAAAATTAGCCAGGCG TGGTG	TDP2	ENSG00000111802.14	transcript	ENST00000378198.9	protein_coding		997		chr6	TogoVar
TDP2_chr6_24644979_24671899	24648981	T T	TCACCACG others(432): Show TCACCACGCCTGGCTAATTTTTTTGTGTTTTTAGTAGAGACGGGGTTTCA CCATGTTGATCAGGCTGGTCTCTAACTCCTGACCTCGTGATCCGCCTGTC TTGGCCTCACAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCC TAAAAGTGGTTTGTTTCTATACACTTCATTTATAATTTTTTAGATTTTGT CATACGCAGTATACAAGAAGGTATTTCATGTAGATGCTGTGACTTATATA AAGGAAATGAAACGTCCATGGTTTTAAAACAATTTGACAATTATTTATTT ATTTTTGAGACAGAGTTTCACTCTTCTCGCCCAGGCTGGAGTGTGATGGC AAGATCACGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCC TGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01978.hp2 HG02148.hp2 others(1): Show HG01928.hp2 HG01978.hp2 HG02148.hp2 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0062 a0002c0002t0001g0001 a0002c0002t0001g0062	4	418	0.0096	439	c.18 others(450): Show c.1806_*1807insGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCT GAAGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGT GATCTTGCCATCACACTCCAGCCTGGGCGAGAAGAGTGAAACTCTGTCTC AAAAATAAATAAATAATTGTCAAATTGTTTTAAAACCATGGACGTTTCAT TTCCTTTATATAAGTCACAGCATCTACATGAAATACCTTCTTGTATACTG CGTATGACAAAATCTAAAAAATTATAAATGAAGTGTATAGAAACAAACCA CTTTTAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGTGA GGCCAAGACAGGCGGATCACGAGGTCAGGAGTTAGAGACCAGCCTGATCA ACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAAAATTAGCCAGGCG TGGTG	TDP2	ENSG00000111802.14	transcript	ENST00000378198.9	protein_coding		997		chr6	TogoVar
TDP2_chr6_24644979_24671899	24648987	C C	CGCCTGGC others(432): Show CGCCTGGCTAATTTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGT TGATCAGGCTGGTCTCTAACTCCTGACCTCGTGATCCGCCTGTCTTGGCC TCACAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAAAAG TGGTTTGTTTCTATACACTTCATTTATAATTTTTTAGATTTTGTCATACG CAGTATACAAGAAGGTATTTCATGTAGATGCTGTGACTTATATAAAGGAA ATGAAACGTCCATGGTTTTAAAACAATTTGACAATTATTTATTTATTTTT GAGACAGAGTTTCACTCTTCTCGCCCAGGCTGGAGTGTAATGGCAAGATC ACGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCTTC AGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	418	0.0024	439	c.18 others(450): Show c.1800_*1801insATGGTGGCAGGCACCTGTAATCCCAGCTACTCAG GAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTG AGCCGTGATCTTGCCATTACACTCCAGCCTGGGCGAGAAGAGTGAAACTC TGTCTCAAAAATAAATAAATAATTGTCAAATTGTTTTAAAACCATGGACG TTTCATTTCCTTTATATAAGTCACAGCATCTACATGAAATACCTTCTTGT ATACTGCGTATGACAAAATCTAAAAAATTATAAATGAAGTGTATAGAAAC AAACCACTTTTAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACT TTGTGAGGCCAAGACAGGCGGATCACGAGGTCAGGAGTTAGAGACCAGCC TGATCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAAAATTAGC CAGGC	TDP2	ENSG00000111802.14	transcript	ENST00000378198.9	protein_coding		991		chr6	TogoVar
TERT_chr5_1248167_1300068	1273056	C C	CACGACCG others(432): Show CACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCAC AGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGAC CCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCAT CCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATC AGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCC ATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACA TCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGAC CGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCAC CACATCAGACCCCACGACCGCCATCCACAGTCACCACACA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0352 a0001c0001t0001g0352	1	392	0.0026	439	c.228 others(456): Show c.2287-777_2287-776insTGTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGG ATGGCGGTCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THEG_chr19_356747_381026	376900	T T	TCTGTGCC others(432): Show TCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCGTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCT CCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCC TCTCCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCA GCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACC CAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCA CCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0275 a0002c0002t0001g0275	1	370	0.0027	439	c.-93 others(448): Show c.-931_-930insGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGC TGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAG GCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACGGGGGGG GAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGGGGG GAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAG GGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAC GGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		875		chr19	TogoVar
TMEM255B_chr13_113754226_113821995	113788235	T T	TGGGGATG others(432): Show TGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGA AGGCGGAGGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGA TGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGGAAGGCG GAGGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGC AGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGG GTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGG GAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGG ATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCG GAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTG	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	260	0.0039	439	c.253 others(456): Show c.253-6852_253-6851insGTGGGGATGGGCAGAGGGGAAGGCGGAG GGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAG GGGGAAGGCGGAGGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGT GGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAA GGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATG GGCAGAGGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGA GGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGA GGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAAGGCGGAGGGGGTG GGGGATGGGCAGAGGGGAAGGCGGAGGGGGTGGGGATGGGCAGAGGGGAA GGCGGAGGGGG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
TPCN2_chr11_69043932_69095597	69077105	T T	TTGCCCTC others(432): Show TTGCCCTCCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCATGT CCCTCCACCTGCCCTCCTGCCCTCCTGTTGTGTCTGTCCACTTTCCCTCC TGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCGTGTCCCTCCACT TGCCCTCCTGCCCTCCTGTTGTGTCTGTCCACTTTCCCTCCTGCCCTCCT GCCATGTCCCTCCACCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCT GCCACGTCCCTCCACCTGCCCTCCTGCCCTCCTGCCATGTCCCTCCACCT GCCCTCTTGCCACGTCCCTCCACCTGCCCTCCTGCCCTCCTGCCATGTCC CTCCACCTGCCCTCCTGCCACGTCCCTCCACCTGCCCTCCTGCCCTCCTG CCATGTCCCTCCACCTGCCCTCTTGCCACGTCCCTCCACC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0244 a0002c0002t0001g0244	1	404	0.0025	439	c.123 others(458): Show c.1231-1332_1231-1331insATGTCCCTCCACCTGCCCTCCTGCCC TCCTGTTGTGTCTGTCCACTTTCCCTCCTGCCCTCCTGCCATGTCCCTCC ACCTGCCCTCCTGCCGTGTCCCTCCACTTGCCCTCCTGCCCTCCTGTTGT GTCTGTCCACTTTCCCTCCTGCCCTCCTGCCATGTCCCTCCACCTGCCCT CCTGCCATGTCCCTCCACCTGCCCTCCTGCCACGTCCCTCCACCTGCCCT CCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCTTGCCACGTCCCTCCA CCTGCCCTCCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCACG TCCCTCCACCTGCCCTCCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTC TTGCCACGTCCCTCCACCTGCCCTCCTGCCCTCCTGCCATGTCCCTCCAC CTGCCCTCCTGCC	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TWIST2_chr2_238843085_238915534	238870128	A A	ACACCACA others(432): Show ACACCACACAAACCACACACCCCACACACACCACACACACCACACCCCAC ACACACCACACACCCCACACACACCACACACCCCCCCACACCACACCCCA TACACACCACACACCACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACACCCCACACACACCACACCCCACACACACCACA CACCCCCCACACACCACACCCCATACACACCACACACCACACCCCACACA CACCACACCCCACACACACCACACCCCACACACACCACACACCCCCCACA CACCACACCCCACACACACCACACACCCCCCACACACCACACACCATACA CACCACACCCCACACACACCACACCCCCCACACACCACACCCCACACACC ACACCCCACACACACCACACCCCACACACACCACACCCCC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA19068.hp1 NA19091.hp2 NA18944.hp1 NA19068.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0028 a0001c0001t0002g0029 a0001c0001t0002g0135 a0001c0001t0001g0028 a0001c0001t0002g0029 a0001c0001t0002g0135	3	338	0.0089	439	c.35 others(458): Show c.35+21398_*35+21399insCACACAAACCACACACCCCACACACA CCACACACACCACACCCCACACACACCACACACCCCACACACACCACACA CCCCCCCACACCACACCCCATACACACCACACACCACACCCCACACACAC CACACCCCACACACACCACACCCCACACACACCACACACCCCACACACAC CACACCCCACACACACCACACACCCCCCACACACCACACCCCATACACAC CACACACCACACCCCACACACACCACACCCCACACACACCACACCCCACA CACACCACACACCCCCCACACACCACACCCCACACACACCACACACCCCC CACACACCACACACCATACACACCACACCCCACACACACCACACCCCCCA CACACCACACCCCACACACCACACCCCACACACACCACACCCCACACACA CCACACCCCCCAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
USP37_chr2_218445251_218573351	218557668	G G	GCTGTAAT others(432): Show GCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACAAGGTCA AGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAA AATACAAAAAATTAGCTGGGCATGGTGGCAGGCGCCTGTAGTCCCAGCTA CTCGAGAGGCTGAGGCAGGAGGATGGTATGAACCCAGGAGGCAGGGTTTG CAGTAAGCCGAGATCACACCACCGCACTCCAGCCTGGGCAACAGAGCGAG ACTCCGTCTCAAAAAACAAAACAAAAAGCAAAAAAACCCCATATATATAT ATATATATATATATGATCTTAAAGTGCAGAAAAACATAAAACATTATGTT CTTAACTTCAACTCATATCAAGATGAGTAACTTGGTTGCATAAGAGAAGC AATAAAGAAGTGAAAACAGGCTGGGCGCAGTGGCTCACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp2 HG02615.hp2 others(10): Show HG02486.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp1 HG03579.hp1 HG06807.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0018 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0018 a0001c0001t0024	a0001c0001t0004g0194 a0001c0001t0006g0141 a0001c0001t0006g0182 others(10): Show a0001c0001t0004g0194 a0001c0001t0006g0141 a0001c0001t0006g0182 a0001c0001t0006g0183 a0001c0001t0006g0184 a0001c0001t0006g0186 a0001c0001t0006g0190 a0001c0001t0006g0191 a0001c0001t0006g0192 a0001c0001t0006g0193 a0001c0001t0018g0187 a0001c0001t0018g0188 a0001c0001t0024g0189	13	282	0.0461	439	c.156 others(454): Show c.156+829_156+830insGTGTGAGCCACTGCGCCCAGCCTGTTTTCA CTTCTTTATTGCTTCTCTTATGCAACCAAGTTACTCATCTTGATATGAGT TGAAGTTAAGAACATAATGTTTTATGTTTTTCTGCACTTTAAGATCATAT ATATATATATATATATATATGGGGTTTTTTTGCTTTTTGTTTTGTTTTTT GAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCGGTGGTGTGATCT CGGCTTACTGCAAACCCTGCCTCCTGGGTTCATACCATCCTCCTGCCTCA GCCTCTCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCAGCTAAT TTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATCTCTTGACCTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTG GGATTACAG	USP37	ENSG00000135913.11	transcript	ENST00000258399.8	protein_coding	4/25			chr2	TogoVar
USP37_chr2_218445251_218573351	218557668	G G	GCTGTAAT others(432): Show GCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACAAGGTCA AGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAA AATACAAAAAATTAGCTGGGCATGGTGGCAGGCGCCTGTAGTCCCAGCTA CTCGAGAGGCTGAGGCAGGAGGATGGTATGAACCCAGGAGGCAGGGTTTG CAGTAAGCCGAGATCACACCAGCGCACTCCAGCCTGGGCAACAGAGCGAG ACTCCGTCTCAAAAAACAAAACAAAAAGCAAAAAAACCCCATATATATAT ATATATATATATATGATCTTAAAGTGCAGAAAAACATAAAACATTATGTT CTTAACTTCAACTCATATCAAGATGAGTAACTTGGTTGCATAAGAGAAGC AATAAAGAAGTGAAAACAGGCTGGGCGCAGTGGCTCACAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0157 a0001c0001t0004g0157	1	282	0.0036	439	c.156 others(454): Show c.156+829_156+830insGTGTGAGCCACTGCGCCCAGCCTGTTTTCA CTTCTTTATTGCTTCTCTTATGCAACCAAGTTACTCATCTTGATATGAGT TGAAGTTAAGAACATAATGTTTTATGTTTTTCTGCACTTTAAGATCATAT ATATATATATATATATATATGGGGTTTTTTTGCTTTTTGTTTTGTTTTTT GAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCGCTGGTGTGATCT CGGCTTACTGCAAACCCTGCCTCCTGGGTTCATACCATCCTCCTGCCTCA GCCTCTCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCAGCTAAT TTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATCTCTTGACCTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTG GGATTACAG	USP37	ENSG00000135913.11	transcript	ENST00000258399.8	protein_coding	4/25			chr2	TogoVar
VCX_chrX_7838171_7849143	7844217	A A	AGGGAGGG others(432): Show AGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGG AGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0019 a0006c0010t0019	a0006c0010t0019g0001 a0006c0010t0019g0001	1	341	0.0029	439	c.20 others(448): Show c.201_*202insGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTG TGTGGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGG GAG	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		75		chrX	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(432): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTC CTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	326	0.0031	439	c.483 others(454): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCT TCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
YBEY_chr21_46281342_46302751	46293370	G G	GCAAGTTA others(432): Show GCAAGTTAAACTCTAGATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGG ACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCG CGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCAGCCACACAAGTT AAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGAC TCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCGTGCCCCGGACTCAGTGGAGTCAGCCACACAAGTTAA ACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTC AGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGT TAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0360 a0001c0001t0001g0360	1	404	0.0025	439	c.339 others(456): Show c.339+1915_339+1916insAACTCTAGATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGT CAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCCGGACTCAGTGGAGTCA GCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGC CACACAAGTTA	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZBTB34_chr9_126855639_126890878	126876166	C C	CCCCCTTC others(432): Show CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCGTTCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCATTCCCCCTTCCCCCT TCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCC CCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCTTCACCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCTCCC TTTCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0223 a0001c0001t0004g0223	1	246	0.0041	439	c.-10 others(456): Show c.-10-3220_-10-3219insTTCCCCCCTTCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCGTT CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCC CATTCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCC TTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTC CCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTCCCCCTTCACCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCTTCCTCCCTTTCCCCTTCCCCCCTTCCCCCCTTCCCCCTTC CCCCCTTCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZNF365_chr10_62369369_62407450	62370841	C C	CATATATC others(432): Show CATATATCATATACATCACATACATCACATATATGATATATATATCACAT ACATCACATATATGATATATATATCATATACATCACATATATGATATATA TCATATATATCACATATATGATATATATCATATATATCACATATATGATA TATATCATATATATCACATATATGATATATATCATATATATCACATATAT GATATATATCATATATATCACATATATGATATATATATCATATATCACAT ATATGATATATATCATATATCATATGATATATATCATATATATCACATAT ATGATATATATCATATGTGATATATATCATATATATCACATATATGATAT ATATCATATGTGATATATATCATATATATCACATATATGATATATATATG TGATATATATCATATATATCACATATATGATATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	350	0.0029	439	c.-36 others(450): Show c.-3631_-3630insATATATCATATACATCACATACATCACATATATG ATATATATATCACATACATCACATATATGATATATATATCATATACATCA CATATATGATATATATCATATATATCACATATATGATATATATCATATAT ATCACATATATGATATATATCATATATATCACATATATGATATATATCAT ATATATCACATATATGATATATATCATATATATCACATATATGATATATA TATCATATATCACATATATGATATATATCATATATCATATGATATATATC ATATATATCACATATATGATATATATCATATGTGATATATATCATATATA TCACATATATGATATATATCATATGTGATATATATCATATATATCACATA TATGATATATATATGTGATATATATCATATATATCACATATATGATATAT ATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3527		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370841	C C	CATATATC others(432): Show CATATATCATATACATCATATACATCACATATATGATATATACATCATAT ATATCACATATATGATATATATATCATATATATCACATATATGATATATA TCATATATATCACATATATGATATATATATCATATATCACATATATGATA TATATATCATATATCACATATATGATATATATATCATATATATCATATGA TATATATCATATATATCACATATATGATATATATCACATGTGATATATAG CATATATATCATGCTATACATCATATATGATATATATGATATATATCACG TATGCTATATAGCATATGTGATATATATGATATATATCACATATGCTATA TAGCATACGTGATATATATGATATATATCACATATGCTATATATCATATG TGATATATATGATATATATCACATATATGATACATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01981.hp2 HG02004.hp1 others(1): Show HG01257.hp1 HG01981.hp2 HG02004.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	4	350	0.0114	439	c.-36 others(450): Show c.-3631_-3630insATATATCATATACATCATATACATCACATATATG ATATATACATCATATATATCACATATATGATATATATATCATATATATCA CATATATGATATATATCATATATATCACATATATGATATATATATCATAT ATCACATATATGATATATATATCATATATCACATATATGATATATATATC ATATATATCATATGATATATATCATATATATCACATATATGATATATATC ACATGTGATATATAGCATATATATCATGCTATACATCATATATGATATAT ATGATATATATCACGTATGCTATATAGCATATGTGATATATATGATATAT ATCACATATGCTATATAGCATACGTGATATATATGATATATATCACATAT GCTATATATCATATGTGATATATATGATATATATCACATATATGATACAT ATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3527		chr10	TogoVar
ABCB11_chr2_168915781_169036324	168975506	G G	GATAAATA others(433): Show GATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATATA AATATATAAATATTTTTATATTTATAGATAAATATATAAATATATAAATA TTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATA TAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATA GATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAA TATATAAATATATAAATATTTTTATATTTATAGATAAATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0054 a0002c0054	a0002c0054t0006 a0002c0054t0006	a0002c0054t0006g0023 a0002c0054t0006g0023	1	306	0.0033	440	c.130 others(459): Show c.1308+1070_1308+1071insATATTTATCTATAAATATAAAAATAT TTATATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTAT ATATTTATCTATAAATATAAAAATATTTATATATTTATATATTTATCTAT AAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTTAT CTATAAATATAAAAATATTTATATATTTATATATTTATCTATAAATATAA AAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTTATATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABHD12B_chr14_50867053_50909970	50870981	A A	AAGAGAGA others(433): Show AAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG AAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA GAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGA GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGA AAGAAAGAAAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0014 a0003c0003t0001g0014	1	376	0.0027	440	c.-11 others(451): Show c.-1194_-1193insAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAG AGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAG AGAGAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1071		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAGAGAGA others(433): Show GAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGAAA GAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGA GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGA GAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0171 a0002c0002t0005g0171	1	376	0.0027	440	c.-11 others(451): Show c.-1192_-1191insAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGGAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG AGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAG AGAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABR_chr17_998519_1184981	1052449	G G	GGAGGGTT others(433): Show GGAGGGTTCCGGAAGGGGCTGGGGGAGGGGTCACAGGGTCAGAGGGAGGG TTCCGGAACGGGCTGGGGGAGGGCTCACAGGGTCAGAGGGAGGGTTCCGG AAGGGGGTGGGGGAGGGCTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGG CTGGGGGAGGGGTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGG GAGGGCTCACAGGGTCAGAGGGAGGGTTCGGGAAGGGGCTGGGGGAGGGC TCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGGTCACAG GGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGGTCACAGGGTCAG AGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGTTCACAGGGTCAGAGGGAG GGTTCCGGAAGGGGCTGGGGGAGGGGTCACAGGGTCAGAGC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03098.hp2 HG02615.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0075 a0001c0001t0031 a0001c0001t0075	a0001c0001t0031g0241 a0001c0001t0075g0156 a0001c0001t0031g0241 a0001c0001t0075g0156	2	337	0.0059	440	c.156 others(459): Show c.1562-1816_1562-1815insGCTCTGACCCTGTGACCCCTCCCCCA GCCCCTTCCGGAACCCTCCCTCTGACCCTGTGAACCCTCCCCCAGCCCCT TCCGGAACCCTCCCTCTGACCCTGTGACCCCTCCCCCAGCCCCTTCCGGA ACCCTCCCTCTGACCCTGTGACCCCTCCCCCAGCCCCTTCCGGAACCCTC CCTCTGACCCTGTGAGCCCTCCCCCAGCCCCTTCCCGAACCCTCCCTCTG ACCCTGTGAGCCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTG TGACCCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGAGCC CTCCCCCACCCCCTTCCGGAACCCTCCCTCTGACCCTGTGAGCCCTCCCC CAGCCCGTTCCGGAACCCTCCCTCTGACCCTGTGACCCCTCCCCCAGCCC CTTCCGGAACCCTC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22			chr17	TogoVar
ABR_chr17_998519_1184981	1052449	G G	GGAGGGTT others(433): Show GGAGGGTTCCGGAAGGGGCTGGGGGAGGGGTCACAGGGTCAGAGGGAGGG TTCCGGAACGGGCTGGGGGAGGGCTCACAGGGTCAGAGGGAGGGTTCCGG AAGGGGGTGGGGGAGGGCTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGG CTGGGGGAGGGGTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGG GAGGGTTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGC TCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGGTCACAG GGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGGTCACAGGGTCAG AGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGTTCACAGGGTCAGAGGGAG GGTTCCGGAAGGGGCTGGGGGAGGGGTCACAGGGTCAGAGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp1 HG01358.hp1 others(6): Show HG00323.hp2 HG00738.hp1 HG01358.hp1 HG01978.hp1 HG02683.hp2 HG02735.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0058	a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0002g0085 others(6): Show a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0002g0085 a0001c0001t0003g0060 a0001c0001t0006g0216 a0001c0001t0008g0024 a0001c0001t0008g0033 a0001c0001t0011g0167 a0001c0001t0058g0076	9	337	0.0267	440	c.156 others(459): Show c.1562-1816_1562-1815insGCTCTGACCCTGTGACCCCTCCCCCA GCCCCTTCCGGAACCCTCCCTCTGACCCTGTGAACCCTCCCCCAGCCCCT TCCGGAACCCTCCCTCTGACCCTGTGACCCCTCCCCCAGCCCCTTCCGGA ACCCTCCCTCTGACCCTGTGACCCCTCCCCCAGCCCCTTCCGGAACCCTC CCTCTGACCCTGTGAGCCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTG ACCCTGTGAACCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTG TGACCCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGAGCC CTCCCCCACCCCCTTCCGGAACCCTCCCTCTGACCCTGTGAGCCCTCCCC CAGCCCGTTCCGGAACCCTCCCTCTGACCCTGTGACCCCTCCCCCAGCCC CTTCCGGAACCCTC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173286	C C	CCAACACA others(433): Show CCAACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCC CACACATCACCTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCC GACATCACCTCAGCCCACCCCCCCCACACATCACCTCAGCCCACCCAACA CATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCAACACATCAC CTCAGTCCACTCAACACATCACCTCAGTCCACCCCCCCCATCACCTCAGC CCACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGCCCACCC AACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACA CGTCACCTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACA TCACCTCAGCCCACCCCCCCCACACATCACCTCAGTCCACT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0033 a0001c0001t0008g0033	1	337	0.0030	440	c.61+ others(455): Show c.61+6380_61+6381insAGTGGACTGAGGTGATGTGTGGGGGGGGTG GGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGA CTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGA GGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGAT GTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTG AGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGG CTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGGGGGGGGTGGGCT GAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGA GGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGG TGATGTGTTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACSF3_chr16_89088852_89161233	89137373	G G	GGATTGAG others(433): Show GGATTGAGGGGAAGAGCCCCGGGTCCCGGGAGGACCACCAGGAGCTCACG GGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGC TCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCA GGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGAC CACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGG AGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTC TCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCC AGGTCTCGGGAGGACCACCAGGAGCTCGTGGGGAAGGATTGAGGGGAAGA GCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01257.hp1 HG01106.hp2 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0170 a0001c0001t0002g0160 a0001c0001t0002g0170	2	368	0.0054	440	c.136 others(459): Show c.1366+4130_1366+4131insGGGTCCCGGGAGGACCACCAGGAGCT CACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAG GAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACC ACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGA GGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCT CGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCA GGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAG CCCCAGGTCTCGGGAGGACCACCAGGAGCTCGTGGGGAAGGATTGAGGGG AAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTG AGGGGAAGAGCCCC	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89137421	C C	CGGGGAAG others(433): Show CGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGA GCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCAC CAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGG ACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCG GGAGGACCACCAGGAGCTCACGGGGAAGGACTGAGGGGAAGAGCCCCAGG TCTCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCC CCAGGTCTCGGGAGGACCACCAGGAGCTTGTGGGGAAGGATTGAGGGGAA GAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGACTGAG GGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTTGT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0135 a0002c0002t0006g0135	1	368	0.0027	440	c.136 others(459): Show c.1366+4190_1366+4191insCCGGGAGGACCACCAGGAGCTCACGG GGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCT CACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAG GAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACC ACCAGGAGCTCACGGGGAAGGACTGAGGGGAAGAGCCCCAGGTCTCGGGA GGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCT CGGGAGGACCACCAGGAGCTTGTGGGGAAGGATTGAGGGGAAGAGCCCCA GGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGACTGAGGGGAAGAG CCCCAGGTCTCGGGAGGACCACCAGGAGCTTGTGGGGAAGGATTGAGGGG AAGAGCCCCAGGTC	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACTRT2_chr1_3016467_3027903	3016683	G G	GGGAGGGA others(433): Show GGGAGGGAGGGAGGAGGGAGGGAGGAGAGAGGAAAGGAAGAAGGGAGGGA GGGAGGAGGGAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGA AGGAGAGAAGGAGAAAGAAGTGAGGAAAGAAGGAGGGAGGGGAGAGAAAA TGGAGGAAGGAGGATGGGAACAGGGGAGGGAGAGAAGGAGGAAGGAAGGA GGGAAGGAGATACGTAGGAAGGAAGGAGGGAAAAAGGAAGAGAGAAAGGG AAGGAAGGAGGGAGGAAGGGAGGAAGGAAGGAGAGAGGGAGGGCAGGAGG AGGGGAGGGAGGGAGGAAGGGAAGAAGGGAGGGGAGAGGAAGAGCAGGAG GAAGGTAAGGAGGGAGGAGGGATGGAGAAGGGAGGGAGGGAGGAAGCGAG GAGGAGAGGGAGGGAGGATGGTGGGAGGGAGGGAGGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG02055.hp2 HG02559.hp2 others(1): Show HG01975.hp2 HG02055.hp2 HG02559.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	366	0.0109	440	c.-50 others(451): Show c.-5004_-5003insGGAGGGAGGGAGGAGGGAGGGAGGAGAGAGGAAA GGAAGAAGGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGGGAGGGAG GGAGGGAGGAAGGGAAGGAGAGAAGGAGAAAGAAGTGAGGAAAGAAGGAG GGAGGGGAGAGAAAATGGAGGAAGGAGGATGGGAACAGGGGAGGGAGAGA AGGAGGAAGGAAGGAGGGAAGGAGATACGTAGGAAGGAAGGAGGGAAAAA GGAAGAGAGAAAGGGAAGGAAGGAGGGAGGAAGGGAGGAAGGAAGGAGAG AGGGAGGGCAGGAGGAGGGGAGGGAGGGAGGAAGGGAAGAAGGGAGGGGA GAGGAAGAGCAGGAGGAAGGTAAGGAGGGAGGAGGGATGGAGAAGGGAGG GAGGGAGGAAGCGAGGAGGAGAGGGAGGGAGGATGGTGGGAGGGAGGGAG GGGGGA	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		4783		chr1	TogoVar
ADGRL3_chr4_61195326_62083335	61847965	A A	ATATATAA others(433): Show ATATATAATATAAAATATATTATATATAATATAAAATATATTATATATAA TATAAAATATATTATACATATAATATAAAATATATTATATATATAATATA AAATATATTATATATATAATATAAAATATATTATATATATAATATAAAAT ATATTATATATATAATATAAAATATATTATATATAATATAAAATATATTA TATATAATATAAAATATATTATATATAATATAAAATATATTATACATATA ATATAAAATATATTATACATATAATATAAAATATATTATATATATAATAT AAAATATATTATATATAATATAAAATATATTATATATAATATAAAATATA TTATATATAATATAAAATATATTATATATATAATATAAAATATATTATAT ATATAATATAAAATATATTATATATATAATATAAAATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0027 a0001c0002t0026g0027	1	58	0.0172	440	c.148 others(461): Show c.1480+34082_1480+34083insATATAAAATATATTATATATAATA TAAAATATATTATATATAATATAAAATATATTATACATATAATATAAAAT ATATTATATATATAATATAAAATATATTATATATATAATATAAAATATAT TATATATATAATATAAAATATATTATATATATAATATAAAATATATTATA TATAATATAAAATATATTATATATAATATAAAATATATTATATATAATAT AAAATATATTATACATATAATATAAAATATATTATACATATAATATAAAA TATATTATATATATAATATAAAATATATTATATATAATATAAAATATATT ATATATAATATAAAATATATTATATATAATATAAAATATATTATATATAT AATATAAAATATATTATATATATAATATAAAATATATTATATATATAATA TAAAATATATTATATA	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(433): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATTATAT ATATTATATACATATAATATATATTCTCATATATATTATATATACTCATA TATATAATATATATTCTCATATATATATATTATATATTCTCATATATATA ATATATATATTCTCATATATAATATATATTCTCATATATATAATATATAC TCATATATTATATATATTCTCATATATTATATATATACTCATATATAATG TATATATTCTAATATATAATATATATTTTCTCATTTATATAATATATATT CTCATATATAATATATATTCTCATATATGACATATTATATATATTCTCAT ATATATTATATATTCTCATATATAATATATATTCTCATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG01070.hp1 others(12): Show HG00099.hp1 HG00323.hp1 HG01070.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01943.hp2 HG01981.hp1 HG02004.hp2 HG02293.hp1 HG03491.hp1 HG03492.hp1 HG04199.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0038 a0001c0001t0043 a0001c0001t0003 a0001c0001t0038 a0001c0001t0043	a0001c0001t0003g0000 a0001c0001t0038g0000 a0001c0001t0043g0000 a0001c0001t0003g0000 a0001c0001t0038g0000 a0001c0001t0043g0000	15	416	0.0361	440	c.10 others(453): Show c.10504_*10505insTATATGAGAATATATATTATATATGAGAATAT ATAATATATATGAGAATATATATAATATGTCATATATGAGAATATATATT ATATATGAGAATATATATTATATAAATGAGAAAATATATATTATATATTA GAATATATACATTATATATGAGTATATATATAATATATGAGAATATATAT AATATATGAGTATATATTATATATATGAGAATATATATTATATATGAGAA TATATATATTATATATATGAGAATATATAATATATATATATGAGAATATA TATTATATATATGAGTATATATAATATATATGAGAATATATATTATATGT ATATAATATATATAATATATAATATATAATATATAATATATACATATATA CATATAATATATAAACATATAATATATAATATATACATGTAATATATATT ATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
ANO2_chr12_5557655_5950259	5931917	G G	GAAAGTGA others(433): Show GAAAGTGACTAATAAGGAAAGAAGGCAGACGAGTGAGGAAAGAAGACAGA AAAGGAAGGAAGACTGGTAAGAAAGTGACTAATAAGGAAAGAAGGTAGAC GAGTGAGGAAAGAAGATAGACTAGTAAGGAAGGAAGACTGGTAAGAAAGT GACTAATAAGGAAAGAAGGCAGACGAGTGAGGAAAGAAGATAGACTAGTA AGGAAGGAAGACTGGTAACAAAGTGACTAAAAAGGAAAGAAGGCAGACGA GTGAGGAAAGAAGACAGACTAGTAAGGAAGGAAGACTGGTAAGAAAGTGA CTAATAAGGAAAGAAGGTAGACGAGTGAGGAAAGAAGATAGACTAGTAAG GAAGGAAGGCTGGTAAGAAAGTGACTAATAAGGAAAGAAGGTAGACGAGT GAGGAAAGAAGATAGACTAGTAAGGAAGGAAGACTGGTAAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0002 a0008c0012t0002	a0008c0012t0002g0146 a0008c0012t0002g0146	1	162	0.0062	440	c.23- others(455): Show c.23-9114_23-9113insGTTACCAGTCTTCCTTCCTTACTAGTCTAT CTTCTTTCCTCACTCGTCTACCTTCTTTCCTTATTAGTCACTTTCTTACC AGCCTTCCTTCCTTACTAGTCTATCTTCTTTCCTCACTCGTCTACCTTCT TTCCTTATTAGTCACTTTCTTACCAGTCTTCCTTCCTTACTAGTCTGTCT TCTTTCCTCACTCGTCTGCCTTCTTTCCTTTTTAGTCACTTTGTTACCAG TCTTCCTTCCTTACTAGTCTATCTTCTTTCCTCACTCGTCTGCCTTCTTT CCTTATTAGTCACTTTCTTACCAGTCTTCCTTCCTTACTAGTCTATCTTC TTTCCTCACTCGTCTACCTTCTTTCCTTATTAGTCACTTTCTTACCAGTC TTCCTTCCTTTTCTGTCTTCTTTCCTCACTCGTCTGCCTTCTTTCCTTAT TAGTCACTTT	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24			chr12	TogoVar
ANO9_chr11_412938_447011	431205	G G	GGTGTGGG others(433): Show GGTGTGGGGCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGC TCCCGTGGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTGCGGGT ATCTGGGGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGC GTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGG GTGTGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGC TCCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGT ATCTGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGG CTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAGG GGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	286	0.0035	440	c.539 others(455): Show c.539+488_539+489insTCCTGCGGAAGCCCCCAGATACCCGCGGAC GCCCCCACACCCCTGCAGAAGCCCCCAGATACCCGCGGACGCCCCCACAC CCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCAGAC GCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGACGCCCCCAGA TACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGATACCCGCGGA CGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGGAGCCCCCACA CCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGCGGA AGCCCCCAGATACCCGCAGACGCCCCCACACCCCCGCGGAAGCCCCCAGA TACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATACCCACGGG AGCCCCACAC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431210	G G	GGGGCTCC others(433): Show GGGGCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCG TGGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTGCGGGTATCTG GGGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTG CGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTGTG GGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCCCG CGGGTACCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATCTG GGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTC CGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAAGGGTG TGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	286	0.0035	440	c.539 others(455): Show c.539+483_539+484insACACCCCTGCGGAAGCCCCCAGATACCCGC GGACGCCCCCACACCCTTGCAGAAGCCCCCAGATACCCGCGGACGCCCCC ACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGC AGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGACGCCC CCAGGTACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGATACCC GCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGGAGCCC CCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCC GCGGAAGCCCCCAGATACCCGCAGACGCCCCCACACCCCCGCGGAAGCCC CCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATACCC ACGGGAGCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ARHGEF10_chr8_1818926_1963641	1824952	T T	TCCCCGCA others(433): Show TCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCC CACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCAC CCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCCGC ACCCCACCTGTCCCCTCGCACCCCACCTGCCCCCCCGCACCCCACCTGTC CCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCCGCACCCC ACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCT GCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTG TCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0207 a0001c0001t0012g0207	1	363	0.0028	440	c.-48 others(455): Show c.-48+997_-48+998insGCACCCCACCTGTCCCTCCGCACCCCACCT GTCCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGCCCCCCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTC ACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCG CACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACC CCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCA CCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1824952	T T	TCCCCGCA others(433): Show TCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCC CACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCAC CCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCA CCCCACCTGTCCCCTCGCACCCCACCTGCCCCCCCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCCGCACCCCACCTGTTCACCCGCACCCC ACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCT GCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTG TCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0212 a0001c0002t0010g0212	1	363	0.0028	440	c.-48 others(455): Show c.-48+997_-48+998insGCACCCCACCTGTCCCTCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGCCCCCCCGCAC CCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCCGCACCCCACCTGTTC ACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCG CACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACC CCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCA CCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1824952	T T	TCCCCGCA others(433): Show TCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCC CACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCAC CCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCA CCCCACCTGTCCCCTCGCACCCCACCTGCCCCCCCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCCGCACCCCACCTGTTCACCCGCACCCC ACCTGTCCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTCCCCCT GCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCTCCGCACCCCACCTG TCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0323 a0001c0007t0001g0323	1	363	0.0028	440	c.-48 others(455): Show c.-48+997_-48+998insGCACCCCACCTGTCCCTCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGCCCCCCCGCAC CCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCCGCACCCCACCTGTTC ACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTGCACCCCA CCTGTCCCCCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCTCCG CACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACC CCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCA CCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1824952	T T	TCCCCGCA others(433): Show TCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCC CACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCAC CCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCA CCCCACCTGTCCCCTCGCACCCCACCTGCCCCCCCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCCGCACCCCA CCTGTCCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCT GCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTG TCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0218 a0001c0007t0001g0218	1	363	0.0028	440	c.-48 others(455): Show c.-48+997_-48+998insGCACCCCACCTGTCCCTCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGCCCCCCCGCAC CCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCA CCCGCACCCCACCTGTCCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCG CACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACC CCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCA CCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1824952	T T	TCCCCGCA others(433): Show TCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCC CACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCAC CCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCA CCCCACCTGTCCCCTCGCACCCCACCTGCCCCCCCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTG CACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGT CCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0222 a0001c0007t0001g0222	1	363	0.0028	440	c.-48 others(455): Show c.-48+997_-48+998insGCACCCCACCTGTCCCTCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGCCCCCCCGCAC CCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCA CCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGC ACCCCACCTGTCCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACC CCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCA CCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1824952	T T	TCCCCGCA others(433): Show TCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCC CACCTGTTTACTCTGCACCCCAGCTGTCCCCCCCACACCCCACCTGTTCA CCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCCGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGC ACCCCACCTGTCCCCTCGCACCCCACCTGCCCCCCCGCACCCCACCTGTC CCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCCGCACCCC ACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCT GCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTG TCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA18975.hp1 HG03669.hp2 NA18975.hp1	a0002 a0013 a0002 a0013	a0002c0060 a0013c0057 a0002c0060 a0013c0057	a0002c0060t0012 a0013c0057t0001 a0002c0060t0012 a0013c0057t0001	a0002c0060t0012g0284 a0013c0057t0001g0283 a0002c0060t0012g0284 a0013c0057t0001g0283	2	363	0.0055	440	c.-48 others(455): Show c.-48+921_-48+922insCACACCCCACCTGTTCACCCGCACTCCACC TGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCA CCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC CCTCGCACCCCACCTGCCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTTCACCCGCACCCCACCTGTCCCCCCG CACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGT TCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCC CACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCT CGCACCCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAG CTGTCCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825066	T T	TCCCCCCG others(433): Show TCCCCCCGCACTCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACC CCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCC TCGCACCCCACCTGCCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTTCACCCGCACCCCACCTGTCCCCCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTC ACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCG CACCCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAGCT GTCCCCCCACACCCCACCTGTTCACCCGCACTCCACCTGTC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0224	1	363	0.0028	440	c.-48 others(455): Show c.-48+997_-48+998insGCACCCCACCTGTCCCTCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGCCCCCCCGCAC CCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCA CCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGC ACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTC CCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCC CACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCAC CCGCACTCCACCTGTCCCCCCCGCACTCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825085	T T	TCCCCCCG others(433): Show TCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCTCCGCACC CCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGCCCCC CCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACC TGTTCACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCA CCCCACCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCC CTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCC ACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCT GTTCACCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTC	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0225 a0001c0013t0001g0225	1	363	0.0028	440	c.-48 others(455): Show c.-48+997_-48+998insGCACCCCACCTGTCCCTCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGCCCCCCCGCAC CCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCA CCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGC ACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTC CCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCC CACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCAC CCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCCGCACCCCAC CTGTCCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825143	T T	TTCACCTG others(433): Show TTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACC CCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCC CCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCA CCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCCCACCTGTTTACTC TGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCACCCGCACTCCACCT GTCCCCCCGCAATCCACCTGTCCCCCCGCACCCCACCTGTC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0150 a0002c0150	a0002c0150t0001 a0002c0150t0001	a0002c0150t0001g0005 a0002c0150t0001g0005	1	363	0.0028	440	c.-48 others(457): Show c.-48+1030_-48+1031insTCACCTGCACCCCACCTGTCCCTCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCG CACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCTGCACCCCACCTGT CCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCC CACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCC CCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCAC CTGTTCACCCGCACTCCACCTGTCCCCCCGCAATCCACCTGTCCCCCCGC ACCCCACCTGTC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850057	G G	GTGGGCCG others(433): Show GTGGGCCGGCTGCGTGGACACAGACAGCAAATGCTGAGGAGGGCGTGGGG CGGCCACGTGGACATAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTG CGTGGACACAGACAGCAAATGCTGAGGAGGGCGTGGGGCGACCATGTGGA CACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGA GGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAA ATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTG AGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGG GTGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGG GCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0006 a0001c0021t0006	a0001c0021t0006g0128 a0001c0021t0006g0128	1	363	0.0028	440	c.37+ others(455): Show c.37+6644_37+6645insCAGCAAATGCTGAGGAGGGCGTGGGGCGGC CACGTGGACATAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTG GACACAGACAGCAAATGCTGAGGAGGGCGTGGGGCGACCATGTGGACACA GAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCGTGGACACAGAGGGC AAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGC TGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGA GGGCGTGGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGTGT GGGCCGGCTGCGTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCG GCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGCATGGGCCGGCTGCG TGGACACAGA	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASAP2_chr2_9201812_9410678	9305514	T T	TAGATATT others(433): Show TAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATATTGGTGGAGA GGCTGTAGTAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTGGTGGGG TATAGATAATTGGTGGAGGGGCTGTAATAGTGGGGTATAGATATTGGTGG AGAGGCTGTAGTAGTGGGGTATAGATATTGGTGGAGGGGCTGGAGTAGTG AGGTATAGATATTGGAGGGTCTGGAGTAGTGAGGTATAGATATTGGTTGA CAGGCTGGAGTAGTGGCGTATACATATTGGTGGAGGGGCTGTAATAGTGG GGTATAGATGTTGGTGTAGAGGCTGTAGTAGTGGGGTATAGATATTGGTG GAGAGGCTGTAGTAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGT GGGGTATAGATATTGGTGGAGGGGCTGTAATAGTGGGGTAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0188 a0001c0002t0003g0188	1	210	0.0048	440	c.345 others(457): Show c.345+8083_345+8084insAGGCTGTAGTAGTGGGGTATAGATATTG GTGGAGAGGCTGTAGTAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGT GGTGGGGTATAGATAATTGGTGGAGGGGCTGTAATAGTGGGGTATAGATA TTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATATTGGTGGAGGGGCTGG AGTAGTGAGGTATAGATATTGGAGGGTCTGGAGTAGTGAGGTATAGATAT TGGTTGACAGGCTGGAGTAGTGGCGTATACATATTGGTGGAGGGGCTGTA ATAGTGGGGTATAGATGTTGGTGTAGAGGCTGTAGTAGTGGGGTATAGAT ATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATATTGGTGGAGAGGCTG TAGTAGTGGGGTATAGATATTGGTGGAGGGGCTGTAATAGTGGGGTACAG ATATTGGTGGAG	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9406390	A A	ACATCTAG others(433): Show ACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTG TGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGA CCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTG AGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTG TCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTG TGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTG TGTGTTTGTCACTGAGTGGACCTCTGTGGCATCTCGTCTTCCTCAGGCCT TCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTC AGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0179 a0002c0001t0001g0179	1	210	0.0048	440	c.30 others(451): Show c.3063_*3064insCATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTCA CTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGT TTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCC TTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCT CAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTC CTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGGCATCTC GTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGA CATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCT CTGTGG	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		713		chr2	TogoVar
AZU1_chr19_822837_837018	835444	A A	AGCCTCCA others(433): Show AGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0008 a0001c0009t0001g0008	1	391	0.0026	440	c.35 others(451): Show c.3567_*3568insGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3427		chr19	TogoVar
C2orf80_chr2_208160347_208195030	208176938	T T	TAGGTGTA others(433): Show TAGGTGTATACATACGTATACATATCTGTATACATACGTATACATAGGTG TATACATACGTATACATATCTGTATACATACGTATACATAGGTGTATACA TACGTATACATATCTGTATACATACGTATACATAGGTGTATACATACGTA TACATATCTGTATACATACGTATACATAGGTGTATACATACGTATACATA TCTGTATACATACGTATACATAGGTGTATACATACGTATACATATCTGTA TACATACGTATACATAGGTGTATACATACGTATACATATCTGTATACATA CGTATACATAGGTGTATACATACGTATACATATCTGTATACATACGTATA CATAGGTGTATACATACGTATACATATCTGTATACAGATCTGTATACAGA TGTATACAGATCTGTATACAGATGTATACAGATCTGTATAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02572.hp1 HG02622.hp1 others(7): Show HG01361.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02735.hp1 HG02818.hp2 HG02922.hp2 HG02976.hp2 HG03471.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0064 a0001c0001t0001g0251 a0001c0001t0003g0209 others(7): Show a0001c0001t0001g0064 a0001c0001t0001g0251 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0220 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0265 a0001c0001t0003g0268	10	342	0.0292	440	c.366 others(457): Show c.366+3806_366+3807insGTATACAGATCTGTATACATCTGTATAC AGATCTGTATACATCTGTATACAGATCTGTATACAGATATGTATACGTAT GTATACACCTATGTATACGTATGTATACAGATATGTATACGTATGTATAC ACCTATGTATACGTATGTATACAGATATGTATACGTATGTATACACCTAT GTATACGTATGTATACAGATATGTATACGTATGTATACACCTATGTATAC GTATGTATACAGATATGTATACGTATGTATACACCTATGTATACGTATGT ATACAGATATGTATACGTATGTATACACCTATGTATACGTATGTATACAG ATATGTATACGTATGTATACACCTATGTATACGTATGTATACAGATATGT ATACGTATGTATACACCTATGTATACGTATGTATACAGATATGTATACGT ATGTATACACCT	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
CACNA1I_chr22_39565753_39694735	39602018	C C	CTCCCTCC others(433): Show CTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCC TCCCTCCTTCCTTCCTTCCTGCCTTCCTTCCTTCCTTCCTTCTCTCTCTC TTTCTTTCACCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTT CCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTC CTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCC TTCCTTCCTTCCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCT TCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTC TCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTCCCTTCC TTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18954.hp2 NA18964.hp1 HG00609.hp1 NA18954.hp2 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148	3	236	0.0127	440	c.482 others(457): Show c.482+1368_482+1369insCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTGCCTTCCTTCCT TCCTTCCTTCTCTCTCTCTTTCTTTCACCCTCCCTCCCTTCCTTCCTTCC TTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCT TCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTC CCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTTC CTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCC TCCCTCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTC CCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCC CTCCTTCCTTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CALN1_chr7_71774491_72417338	72209189	T T	TTTCCTTC others(433): Show TTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCC TCCTTCCCTCCTTCCCTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTC CTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCT TCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTC CCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCC TCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTC CTTCCCTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCCTCCT TCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTC CTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	142	0.0070	440	c.244 others(459): Show c.244+69496_244+69497insGGAGGGAAGGAAGGAGGGAAGGAGGG AAGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAG GGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAAGGAAGG AGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAG GGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGG AAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAG GGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGG AAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAG GGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGG AAGGAGGGAAGGAA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72209189	T T	TTTCCTTC others(433): Show TTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCC TCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCGTCCTTCCCTCCTTCCCTC CTTCCTTCCCTCCTTCCCTCCTTCCCTCCGTCCTTCCCTCCTTCCCTCCT TCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTC CCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCC TCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTC CTTCCTTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCC TCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTC CTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCC	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	142	0.0070	440	c.244 others(459): Show c.244+69496_244+69497insGGAGGGAAGGAAGGAGGGAAGGAGGG AAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAA GGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGG AAGGAAGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAA GGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGG AAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAG GGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAGGGAAGGAGGG AAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAGGGAAGGAGGGAA GGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGG AAGGAGGGAAGGAA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CBFA2T3_chr16_88869858_88982207	88975123	C C	CCTCTGCT others(433): Show CCTCTGCTCCTGACCTCCAGCCATGTCAGAGGTCCACCCTGACCCTCTCT GCTCCTGACCTGCAGCCATGTCAGAGGTCCACCCTGATCCTCTGCTCCAC ATCTTTAGCCATGTCAGAGGTCCACCCTGACCCTCTGCTCCTCACCTGCA GCCATGTCAGAGGTCCACCCTGACCCTCTCTGCTCCTGACCTGCAGCCAT GTCAGAGGTCCACCCTGATCCTCTGCTCCTGACCTGCAGCCATGTCAGAG GTCCACCCTGACCCTCTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCA CCCTGACCCTCTGCTCCTCACCTGCAGCCATGTCAGAGGTCCACCCTGAC CCTCTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCACCCTGATCCTCT GCTCCACATCTTTAGCCATGTCAGAGGTCCACCCTGACCCT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	284	0.0035	440	c.151 others(457): Show c.151+1533_151+1534insAGGGTCAGGGTGGACCTCTGACATGGCT AAAGATGTGGAGCAGAGGATCAGGGTGGACCTCTGACATGGCTGCAGGTC AGGAGCAGAGAGGGTCAGGGTGGACCTCTGACATGGCTGCAGGTGAGGAG CAGAGGGTCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAGAG GGTCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAGGATCAGG GTGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAGAGGGTCAGGGTGGA CCTCTGACATGGCTGCAGGTGAGGAGCAGAGGGTCAGGGTGGACCTCTGA CATGGCTAAAGATGTGGAGCAGAGGATCAGGGTGGACCTCTGACATGGCT GCAGGTCAGGAGCAGAGAGGGTCAGGGTGGACCTCTGACATGGCTGGAGG TCAGGAGCAGAG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar

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