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
MPPED1_chr22_43407014_43512848	43475478	G G	GGTGATAA others(432): Show GGTGATAATGGTGATGGTGGTGATGGTGATGATGGTGATGCTGATGGTAT AGTGACGATGATGGTGATAATAATGGGGATGATGGTGATGGTGATTATGG TGATGTTGATAATGGTGGTGATGGTGGCAATGTTGGTGATGATGGTAATG ATAATGGTGGTGGGAATGATGATGGTAAGGTAATGACAACGATGAGGGTG ATGGTGGTGGTGGTATGATCATAATAGTGAGGGTGGTGATGGTGATGGTG ATGATGATGATTGCGATGGTGGTGATGATGGTGATGATGATGATGGTTGT GGTGATGGTGGTGGTGTGATGATGGTGAGGGTAGTGATGGTGATAATGAT GGTGATGATGGTGGTGTGATGATGGTGAGGGTAGTGATAGTGATAATGAT GGTGATGATGGTGGTGATGCTGATGGTGATGATGATGATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0207 a0001c0001t0015g0207	1	250	0.0040	439	c.632 others(454): Show c.632+522_632+523insAATGGTGATGGTGGTGATGGTGATGATGGT GATGCTGATGGTATAGTGACGATGATGGTGATAATAATGGGGATGATGGT GATGGTGATTATGGTGATGTTGATAATGGTGGTGATGGTGGCAATGTTGG TGATGATGGTAATGATAATGGTGGTGGGAATGATGATGGTAAGGTAATGA CAACGATGAGGGTGATGGTGGTGGTGGTATGATCATAATAGTGAGGGTGG TGATGGTGATGGTGATGATGATGATTGCGATGGTGGTGATGATGGTGATG ATGATGATGGTTGTGGTGATGGTGGTGGTGTGATGATGGTGAGGGTAGTG ATGGTGATAATGATGGTGATGATGGTGGTGTGATGATGGTGAGGGTAGTG ATAGTGATAATGATGGTGATGATGGTGGTGATGCTGATGGTGATGATGAT GATAGTGAT	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43475478	G G	GGTGATAA others(432): Show GGTGATAATGGTGATGGTGGTGATGGTGATGATGGTGATGCTGATGGTAT AGTGACGATGATGGTGATAATAATGGGGATGATGGTGATGGTGATTATGG TGATGTTGATAATGGTGGTGATGGTGGCAATGTTGGTGATGATGGTAATG ATAATGGTGGTGGGAATGATGATGGTAAGGTAATGACAATGATGAGGGTG ATGGTGGTGGTGGTATGATCATAATAGTGAGGGTGGTGATGGTGATGGTG ATGATGATGATTGCAATGGTGGTGATGATGGTGATGATGATGATGGTTGT GGTGATGGTGGTGGTGTGATGATGGTGAGGGTAGTGATGGTGATAATGAT GGTGATGATGGTGGTGTGATGATGGTGAGGGTAGTGATAGTGATAATGAT GGTGATGATGGTGGTGATGCTGATGGTGATGATGATGATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01243.hp1 HG02647.hp1 others(16): Show HG01069.hp1 HG01243.hp1 HG02647.hp1 HG02897.hp2 HG02976.hp1 HG03098.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp1 NA18522.hp1 NA18945.hp2 NA18951.hp2 NA18966.hp1 NA19060.hp1 NA19064.hp1 NA19065.hp1 NA19079.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0002t0007	a0001c0001t0002g0025 a0001c0001t0002g0174 a0001c0001t0002g0242 others(16): Show a0001c0001t0002g0025 a0001c0001t0002g0174 a0001c0001t0002g0242 a0001c0001t0003g0121 a0001c0001t0003g0167 a0001c0001t0004g0243 a0001c0001t0006g0026 a0001c0001t0006g0084 a0001c0001t0006g0186 a0001c0001t0006g0187 a0001c0001t0006g0189 a0001c0001t0006g0191 a0001c0001t0007g0050 a0001c0001t0007g0208 a0001c0001t0007g0209 a0001c0002t0001g0155 a0001c0002t0007g0083 a0001c0002t0007g0107 a0001c0002t0007g0214	19	250	0.0760	439	c.632 others(454): Show c.632+522_632+523insAATGGTGATGGTGGTGATGGTGATGATGGT GATGCTGATGGTATAGTGACGATGATGGTGATAATAATGGGGATGATGGT GATGGTGATTATGGTGATGTTGATAATGGTGGTGATGGTGGCAATGTTGG TGATGATGGTAATGATAATGGTGGTGGGAATGATGATGGTAAGGTAATGA CAATGATGAGGGTGATGGTGGTGGTGGTATGATCATAATAGTGAGGGTGG TGATGGTGATGGTGATGATGATGATTGCAATGGTGGTGATGATGGTGATG ATGATGATGGTTGTGGTGATGGTGGTGGTGTGATGATGGTGAGGGTAGTG ATGGTGATAATGATGGTGATGATGGTGGTGTGATGATGGTGAGGGTAGTG ATAGTGATAATGATGGTGATGATGGTGGTGATGCTGATGGTGATGATGAT GATAGTGAT	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43475478	G G	GGTGATAA others(432): Show GGTGATAATGGTGATGGTGGTGATGGTGATGATGGTGATGCTGATGGTAT AGTGACGATGATGGTGATAATAATGGGGATGATGGTGATGGTGATTATGG TGATGTTGATAATGGTGGTGATGGTGGCAATGTTGGTGATGATGGTAATG ATAATGGTGGTGGGAATGATGATGGTAAGGTAATGACAATGATGAGGGTG ATGGTGGTGGTGGTATGATCATAATAGTGAGGGTGGTGATGGTGATGGTG ATGATGATGATTGCGATGGTGGTGATGATGGTGATGATGATGATGGTTGT GGTGATGGTGGTGGTGTGATGATGGTGAGGGTAGTGATGGTGATAATGAT GGTGATGATGGTGGTGTGATGATGGTGAGGGTAGTGATAGTGATAATGAT GGTGATGATGGTGGTGATGCTGATGGTGATGATGATGATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00738.hp2 others(122): Show HG00099.hp1 HG00639.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG02040.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02683.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03540.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18961.hp2 NA18964.hp1 NA18966.hp2 NA18968.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19030.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19240.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0010 a0001c0012 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0023 a0001c0001t0029 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0025 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0004t0012 a0001c0004t0014 a0001c0005t0003 a0001c0005t0004 a0001c0006t0003 a0001c0006t0005 a0001c0006t0017 a0001c0010t0001 a0001c0012t0026 a0002c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0046 a0001c0001t0001g0055 others(121): Show a0001c0001t0001g0001 a0001c0001t0001g0046 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0172 a0001c0001t0001g0180 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0218 a0001c0001t0002g0003 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0024 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0054 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0131 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0148 a0001c0001t0002g0173 a0001c0001t0002g0216 a0001c0001t0002g0219 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0003g0023 a0001c0001t0003g0108 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0183 a0001c0001t0004g0070 a0001c0001t0004g0097 a0001c0001t0004g0106 a0001c0001t0004g0134 a0001c0001t0004g0147 a0001c0001t0004g0195 a0001c0001t0004g0217 a0001c0001t0004g0228 a0001c0001t0004g0240 a0001c0001t0005g0224 a0001c0001t0007g0124 a0001c0001t0008g0179 a0001c0001t0008g0226 a0001c0001t0009g0118 a0001c0001t0009g0120 a0001c0001t0009g0143 a0001c0001t0009g0161 a0001c0001t0015g0210 a0001c0001t0016g0136 a0001c0001t0021g0098 a0001c0001t0023g0130 a0001c0001t0029g0221 a0001c0002t0001g0088 a0001c0002t0002g0074 a0001c0002t0002g0089 a0001c0002t0002g0091 a0001c0002t0002g0093 a0001c0002t0002g0103 a0001c0002t0003g0094 a0001c0002t0004g0028 a0001c0002t0004g0029 a0001c0002t0004g0072 a0001c0002t0004g0111 a0001c0002t0004g0182 a0001c0002t0005g0247 a0001c0002t0006g0244 a0001c0002t0006g0248 a0001c0002t0007g0105 a0001c0002t0008g0086 a0001c0002t0009g0057 a0001c0002t0025g0085 a0001c0004t0001g0114 a0001c0004t0001g0159 a0001c0004t0001g0227 a0001c0004t0002g0132 a0001c0004t0005g0113 a0001c0004t0005g0165 a0001c0004t0005g0230 a0001c0004t0005g0232 a0001c0004t0012g0156 a0001c0004t0014g0196 a0001c0004t0014g0231 a0001c0005t0003g0220 a0001c0005t0004g0015 a0001c0005t0004g0016 a0001c0005t0004g0017 a0001c0006t0003g0060 a0001c0006t0003g0061 a0001c0006t0005g0033 a0001c0006t0005g0034 a0001c0006t0005g0035 a0001c0006t0005g0036 a0001c0006t0005g0038 a0001c0006t0017g0170 a0001c0006t0017g0193 a0001c0010t0001g0018 a0001c0010t0001g0020 a0001c0012t0026g0177 a0002c0011t0001g0158	125	250	0.5000	439	c.632 others(454): Show c.632+522_632+523insAATGGTGATGGTGGTGATGGTGATGATGGT GATGCTGATGGTATAGTGACGATGATGGTGATAATAATGGGGATGATGGT GATGGTGATTATGGTGATGTTGATAATGGTGGTGATGGTGGCAATGTTGG TGATGATGGTAATGATAATGGTGGTGGGAATGATGATGGTAAGGTAATGA CAATGATGAGGGTGATGGTGGTGGTGGTATGATCATAATAGTGAGGGTGG TGATGGTGATGGTGATGATGATGATTGCGATGGTGGTGATGATGGTGATG ATGATGATGGTTGTGGTGATGGTGGTGGTGTGATGATGGTGAGGGTAGTG ATGGTGATAATGATGGTGATGATGGTGGTGTGATGATGGTGAGGGTAGTG ATAGTGATAATGATGGTGATGATGGTGGTGATGCTGATGGTGATGATGAT GATAGTGAT	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43475478	G G	GGTGATAA others(432): Show GGTGATAATGGTGATGGTGGTGATGGTGATGATGGTGATGCTGATGGTAT AGTGACGATGATGGTGATAATAATGGGGATGATGGTGATGGTGATTATGG TGATGTTGATAATGGTGGTGATGGTGGCAATGTTGGTGATGATGGTAATG ATAATGGTGGTGGGAATGATGATGGTAAGGTAATGACAATGATGAGGGTG ATGGTGGTGGTGGTATGATCATAATAGTGAGGGTGGTGATGGTGATGGTG ATGATGATGATTGCGATGGTGGTGATGATGGTGATGATGATGATGGTTGT GGTGATGGTGGTGGTGTGATGATGGTGAGGGTAGTGATGGTGATAATGAT GGTGATGATGGTGGTGTGATGATGGTGAGGGTAGTGATAGTGTTAATGAT GGTGATGATGGTGGTGATGCTGATGGTGATGATGATGATA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01358.hp2 HG01496.hp2 others(4): Show HG01346.hp1 HG01358.hp2 HG01496.hp2 HG02723.hp1 HG03453.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0008 a0001c0009 a0001c0013 a0001c0008 a0001c0009 a0001c0013	a0001c0008t0010 a0001c0008t0018 a0001c0009t0002 others(2): Show a0001c0008t0010 a0001c0008t0018 a0001c0009t0002 a0001c0009t0019 a0001c0013t0010	a0001c0008t0010g0064 a0001c0008t0010g0237 a0001c0008t0018g0011 others(4): Show a0001c0008t0010g0064 a0001c0008t0010g0237 a0001c0008t0018g0011 a0001c0009t0002g0205 a0001c0009t0002g0222 a0001c0009t0019g0188 a0001c0013t0010g0099	7	250	0.0280	439	c.632 others(454): Show c.632+522_632+523insAATGGTGATGGTGGTGATGGTGATGATGGT GATGCTGATGGTATAGTGACGATGATGGTGATAATAATGGGGATGATGGT GATGGTGATTATGGTGATGTTGATAATGGTGGTGATGGTGGCAATGTTGG TGATGATGGTAATGATAATGGTGGTGGGAATGATGATGGTAAGGTAATGA CAATGATGAGGGTGATGGTGGTGGTGGTATGATCATAATAGTGAGGGTGG TGATGGTGATGGTGATGATGATGATTGCGATGGTGGTGATGATGGTGATG ATGATGATGGTTGTGGTGATGGTGGTGGTGTGATGATGGTGAGGGTAGTG ATGGTGATAATGATGGTGATGATGGTGGTGTGATGATGGTGAGGGTAGTG ATAGTGTTAATGATGGTGATGATGGTGGTGATGCTGATGGTGATGATGAT GATAGTGAT	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MRPL24_chr1_156732303_156746088	156735555	A A	AATAGGCA others(432): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG02027.hp1 HG02132.hp1 HG00642.hp2 HG02027.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	364	0.0082	439	c.18 others(450): Show c.1842_*1843insATATATATATATTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGT AGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCCACCACG CCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTC ACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTCGGCATC CCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGCTGGAGA GCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAATCCTCCC ACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCATGCCTG CCTAT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1747		chr1	TogoVar
MSLN_chr16_755734_773862	767711	G G	GGCGTGGA others(432): Show GGCGTGGAGGAGGGGCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGG GGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGC GCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTC GCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAG GGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGG GTGTGTGGGGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGA GGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCG CGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGG GCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGGGGGC	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	388	0.0026	439	c.159 others(456): Show c.1596+253_1596+254insGGCGTGTGGAGGGGGGCGCGTGGGGGGG GCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGG AGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGT GGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGC GTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGG CGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGG GCGCGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGA GGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGT GGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGGGGGCG CGTGGAGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYDGF_chr19_4652545_4675342	4663119	T T	TCATCCTC others(432): Show TCATCCTCATTCTACAGCCTCCAATCTACCCTCCCCACCCGTCCTGTCCT CATTCTACACAGCCTCCAATCTACGCTCCCATCCACCCCATCCTCATTCT ACAGCATCCAATCTACTCTCCCCACCTACCCCATCCTCATTCTACACAGC CTCCAATCTGTGCCCTCTCCACCCACCCCATCCTCATTCTACACAGCCTC CAATCTACCCTCCCCACCCCATCCTCATTCTACAGCCTCCAACCTGTGCA CTCTCCACCCACCCCATCCTCATTCTACACAGCCTCCAATCTACCCTCCC CACCCACCCCATCCTCATTCTACAGCCTCCAATCTACCCTCCCCACCCAC CCCATCCTCATTCTACACAGCCTCCAATCTACCCTCCCCATCCACCCCAT CCTCATTCTACAGCCTTCAATCTACCCTCCCCACCCACCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0118 a0002c0002t0002g0118	1	410	0.0024	439	c.287 others(456): Show c.287+1756_287+1757insGGGTGGGTGGGGAGGGTAGATTGAAGGC TGTAGAATGAGGATGGGGTGGATGGGGAGGGTAGATTGGAGGCTGTGTAG AATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGG ATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTGTAGAATGAGGATGGG GTGGGTGGAGAGTGCACAGGTTGGAGGCTGTAGAATGAGGATGGGGTGGG GAGGGTAGATTGGAGGCTGTGTAGAATGAGGATGGGGTGGGTGGAGAGGG CACAGATTGGAGGCTGTGTAGAATGAGGATGGGGTAGGTGGGGAGAGTAG ATTGGATGCTGTAGAATGAGGATGGGGTGGATGGGAGCGTAGATTGGAGG CTGTGTAGAATGAGGACAGGACGGGTGGGGAGGGTAGATTGGAGGCTGTA GAATGAGGATG	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYDGF_chr19_4652545_4675342	4663193	C C	CCTCCCCA others(432): Show CCTCCCCACCCACCCCATCCTCATTCTACAGCCTCCAATCTGTGCCCTCT CCACCCATCCCATCCTCATTCTACACAGCCTCCAATCTACGCTCCCATCC ACCCCATCCTCATTCTACAGCATCCAATCTACTCTCCCCACCTACCCCAT CCTCATTCTACACAGCCTCCAATCTGTGCCCTCTCCACCCACCCCATCCT CATTCTACACAGCCTCCAATCTACCCTCCCCACCCCATCCTCATTCTACA GCCTCCAACCTGTGCACTCTCCACCCACCCCATCCTCATTCTACACAGCC TCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTACAGCCTCCAATC TACCCTCCCCACCTCATCCTCATTCTACAGCCTCCAGTATACCCTCCCCA CCCACCCTGTCCTCATTCTACACAGTCTCCAATCTGTGCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	410	0.0024	439	c.287 others(456): Show c.287+1682_287+1683insAGCACAGATTGGAGACTGTGTAGAATGA GGACAGGGTGGGTGGGGAGGGTATACTGGAGGCTGTAGAATGAGGATGAG GTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGATGGGGTGGGTGGGGA GGGTAGATTGGAGGCTGTGTAGAATGAGGATGGGGTGGGTGGAGAGTGCA CAGGTTGGAGGCTGTAGAATGAGGATGGGGTGGGGAGGGTAGATTGGAGG CTGTGTAGAATGAGGATGGGGTGGGTGGAGAGGGCACAGATTGGAGGCTG TGTAGAATGAGGATGGGGTAGGTGGGGAGAGTAGATTGGATGCTGTAGAA TGAGGATGGGGTGGATGGGAGCGTAGATTGGAGGCTGTGTAGAATGAGGA TGGGATGGGTGGAGAGGGCACAGATTGGAGGCTGTAGAATGAGGATGGGG TGGGTGGGGAG	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYDGF_chr19_4652545_4675342	4663752	A A	AAGCCTCC others(432): Show AAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTACAGCCTC CAATCTGTGCCCTCTCCACCCATCCCATCCTCATTCTACACAGCCTCCAA TCTACGCTCCCATCCACCCCATCCTCATTCTACAGCATCCAATCTACTCT CCCCACCTACCCCATCCTCATTCTACACAGCCTCCAATCTGTGCCCTCTC CACCCACCCCATCCTCATTCTACACAGCCTCCAATCTACCCTCCCCACCC CATCCTCATTCTACAGCCTCCAACCTGTGCACTCTCCACCCACCCCATCC TCATTCTACACAGCCTCCAATCTACCCTCCCCACCCCATCCTCATTCTAC AGCCTCCAACCTGTGCACTCTCCACCCACCCCATCCTCATTCTACACAGC CTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTAC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	410	0.0024	439	c.287 others(456): Show c.287+1123_287+1124insGTAGAATGAGGATGGGGTGGGTGGGGAG GGTAGATTGGAGGCTGTGTAGAATGAGGATGGGGTGGGTGGAGAGTGCAC AGGTTGGAGGCTGTAGAATGAGGATGGGGTGGGGAGGGTAGATTGGAGGC TGTGTAGAATGAGGATGGGGTGGGTGGAGAGTGCACAGGTTGGAGGCTGT AGAATGAGGATGGGGTGGGGAGGGTAGATTGGAGGCTGTGTAGAATGAGG ATGGGGTGGGTGGAGAGGGCACAGATTGGAGGCTGTGTAGAATGAGGATG GGGTAGGTGGGGAGAGTAGATTGGATGCTGTAGAATGAGGATGGGGTGGA TGGGAGCGTAGATTGGAGGCTGTGTAGAATGAGGATGGGATGGGTGGAGA GGGCACAGATTGGAGGCTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTA GATTGGAGGCT	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
NCAPG2_chr7_158626169_158709804	158667406	T T	TCCCTTAC others(432): Show TCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTC CCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACT ACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCT TACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCC GCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGG GTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACC CACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCC CGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTC CCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	378	0.0027	439	c.148 others(458): Show c.1480-2657_1480-2656insGAGGGCGGAGGGACCCAGTAGTGGGT AAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAG TAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGA GGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAG GCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAG TGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGA CCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGG CGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGT AAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAG TAGTGGGTAAGGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NHLRC4_chr16_562005_574495	571108	T T	TAGCCTGT others(432): Show TAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTA GCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGT GTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTG GTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGG CTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGT GCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGC CTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTG TGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGT GTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	439	c.26 others(450): Show c.2689_*2690insAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGG TGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCG CCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTA GCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTG TCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTG GGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTC TGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGC TAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGG CACCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1614		chr16	TogoVar
NOP14_chr4_2932936_2968406	2961219	T T	TAGTAACT others(432): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATATAGTTA GTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATA TATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTA TATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATA TAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATA TTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAG TAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTA ATAATATAGTTAGTATATTAATATATAGTAACTATATTAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0067 a0002c0002t0026g0067	1	422	0.0024	439	c.195 others(456): Show c.195+1905_195+1906insTTAATATAGTTACTATATATTAATATAC TAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTA TTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTT ACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATTA ATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAACT ATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAAT ATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTAT ATATTAATATACTAACTATATTAATATAGTTACTATATATTAATATACTA ACTATATTATTAATATAGTTACTATATATTAATATATACTAACTATATTA ATATAGTTACT	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(432): Show AGGAGGGGAGGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGTGG GGGAGGGAGAGGGGAAAGGGAGAGGGGAAAGGGAGGGGATGGGGGAGGGA GAAGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGGAAGGGAGGGGGAGGGGAAAGGGGGAAGGGA GAAGGGGGAGGGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAG GGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGAGGGA GGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGGGAGG AGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0167 a0001c0001t0061g0167	1	344	0.0029	439	c.154 others(456): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCC CCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCTTCCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCCT CCCCCTCCCTTCTCCCTCCCCCATCCCCTCCCTTTCCCCTCTCCCTTTCC CCTCTCCCTCCCCCACCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCCTC CCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300885	G G	GGGGAGGG others(432): Show GGGGAGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGG GAGGGGGGAGGGGGAGGGGTGGGGGAGGGAGAGGGGAAAGGGAGAGGGGA AAGGGAGGGGATGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGGGAGGGG GAGGGGGAGGGGAGGGGGAGGGGGAAGGGAGGGGGAGGGGGAGGGGAAGG GGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGGGAGGGGAA AGGAGGAGGAAGGGGGAGGGGGAAGGGGAGGGAGGGGAGGAGGGGGAAGG GAGGGGAGGAGGGGGAAGGGAGGGGAGGGGAGGAGGGGGGAGGGAGAGGG GAGGGGAGGAAGAAGGGGAAGGGGGAGGGGAGGGGAGGAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02630.hp1 HG03209.hp1 others(1): Show HG02622.hp1 HG02630.hp1 HG03209.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0022 a0001c0001t0037 a0001c0001t0010 a0001c0001t0022 a0001c0001t0037	a0001c0001t0010g0186 a0001c0001t0022g0185 a0001c0001t0022g0190 others(1): Show a0001c0001t0010g0186 a0001c0001t0022g0185 a0001c0001t0022g0190 a0001c0001t0037g0188	4	344	0.0116	439	c.154 others(456): Show c.1545+353_1545+354insTTCCTCCCCTCCCCTCCCCCTTCCCCTT CTTCCTCCCCTCCCCTCTCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCC CCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCC CTTCCTCCTCCTTTCCCCTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTC CCCTCTTCCTCCCCTTCCCCTCCCCCTCCCCCTCCCTTCCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCC ATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCCCTCC CCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCC TCCCCCCTCCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300885	G G	GGGGAGGG others(432): Show GGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGTGGGGGA GGGAGAGGGGAAAGGGAGAGGGGAAAGGGAGGGGATGGGGGAGGGAGAAG GGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGGAGGGGGAAGGGGGAAGGGAGAAGGGGGAGGGGGAGGGGAAGG GGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGGGAGGGGAA AGGAGGAGGAAGGGGGAGGGGGAAGGGGAGGGAGGGGAGGAGGGGGAAGG GAGGGGAGGAGGGGGAAGGGAGGGGAGGGGAGGAGGGGGGAGGGAGAGGG GAGGGGAGGAAGAAGGGGAAGGGGGAGGGGAGGGGAGGAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03139.hp1 HG02622.hp2 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0107 a0001c0003t0108 a0001c0003t0107 a0001c0003t0108	a0001c0003t0107g0310 a0001c0003t0108g0229 a0001c0003t0107g0310 a0001c0003t0108g0229	2	344	0.0058	439	c.154 others(456): Show c.1545+353_1545+354insTTCCTCCCCTCCCCTCCCCCTTCCCCTT CTTCCTCCCCTCCCCTCTCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCC CCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCC CTTCCTCCTCCTTTCCCCTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTC CCCTCTTCCTCCCCTTCCCCTCCCCCTCCCCCTTCTCCCTTCCCCCTTCC CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCC CCCTCCCCCTCCCTTCTCCCTCCCCCATCCCCTCCCTTTCCCCTCTCCCT TTCCCCTCTCCCTCCCCCACCCCTCCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCT CCCCCCCTCCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCTCCCCA others(432): Show TCTCCCCAGAGTGGATTTCTCTTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTTCCCTCTCCCCTTCCCCTCCCCCTCCCCCTTC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0137 a0001c0001t0007g0137	1	326	0.0031	439	c.433 others(456): Show c.433+1023_433+1024insGAAGGGGGAGGGGGAGGGGAAGGGGAGA GGGAAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAAGAGAAATCC ACTCTGGGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
ODF3_chr11_191761_205258	194850	A A	ACAGGGCC others(432): Show ACAGGGCCACAGCCACACACACAGACCCACATACAGAGGATCCCACTCAA GGAGCACATGTGCGAAAGTCCCCCACAGAGGGACACACAAATGGGGACAT CAGGAACACAGGGCCACAGCCACACACACAGACCCACATACAGAGGATCC CACTCAAGGAGCACACGTGCGAAAGTCCCCACAGAGGGGCACACAAGTGG GGACATCAGGAACACACTCAGGGCCACAGCCACACACACAGACCCACATA CAGAGGATCCCACTCAAGGAGCACATGTGCGAAAGTCCCCCACAGAGGGA CACACAAATGGGGACATCAGGAACACACTCAGGGCCACAGCCACACACAC AGACCCACATACAGAGGATCCCACTCAAGGAGCACATGTGCGAAAGTCCC CCACAGAGGGACACACAAATGGGGACATCAGGAACACACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02559.hp2 HG02486.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	388	0.0052	439	c.-22 others(450): Show c.-2205_-2204insCAGGGCCACAGCCACACACACAGACCCACATACA GAGGATCCCACTCAAGGAGCACATGTGCGAAAGTCCCCCACAGAGGGACA CACAAATGGGGACATCAGGAACACAGGGCCACAGCCACACACACAGACCC ACATACAGAGGATCCCACTCAAGGAGCACACGTGCGAAAGTCCCCACAGA GGGGCACACAAGTGGGGACATCAGGAACACACTCAGGGCCACAGCCACAC ACACAGACCCACATACAGAGGATCCCACTCAAGGAGCACATGTGCGAAAG TCCCCCACAGAGGGACACACAAATGGGGACATCAGGAACACACTCAGGGC CACAGCCACACACACAGACCCACATACAGAGGATCCCACTCAAGGAGCAC ATGTGCGAAAGTCCCCCACAGAGGGACACACAAATGGGGACATCAGGAAC ACACT	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		1910		chr11	TogoVar
PATJ_chr1_61737480_62168915	62137609	G G	GACACAGG others(432): Show GACACAGGACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCT CCGGAGGGGGGGACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAAT GCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGG AAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAG GGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCC TGAGAGGGAAATGTCTCTGGAGGGGGAAACACAGAGTGAAGGGGGACAGA GGCCTGAGAGGGAAATGTCTCTGGAGGGGGAAACACAGAGTGAAGGGGGA CAGAGGCCTGAGAGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGG GGGACAGAGGCCTGAGGGGGAAATGCCTCTGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02809.hp2 HG02895.hp1 others(2): Show HG02280.hp2 HG02809.hp2 HG02895.hp1 HG03516.hp1 HG06807.hp2	a0001 a0002 a0022 others(2): Show a0001 a0002 a0022 a0044 a0058	a0001c0026 a0002c0020 a0022c0036 others(2): Show a0001c0026 a0002c0020 a0022c0036 a0044c0135 a0058c0090	a0001c0026t0001 a0002c0020t0025 a0022c0036t0028 others(2): Show a0001c0026t0001 a0002c0020t0025 a0022c0036t0028 a0044c0135t0008 a0058c0090t0008	a0001c0026t0001g0116 a0002c0020t0025g0112 a0022c0036t0028g0145 others(2): Show a0001c0026t0001g0116 a0002c0020t0025g0112 a0022c0036t0028g0145 a0044c0135t0008g0137 a0058c0090t0008g0018	5	158	0.0317	439	c.527 others(458): Show c.5271+8670_5271+8671insGACACAGAGTGAGGGGGGACAGAGGC CTGAGGGGGAAATGCCTCCGGAGGGGGGGACACAGAGTGAGGGGGGACAG AGGCCTGAGGGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGG ACAGAGGCCTGAGGGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGG GGGGACAGAGGCCTGAGGGGGAAATGCCTCCGGAGGGGGGAACACAGAGT GAGGGGGGACAGAGGCCTGAGAGGGAAATGTCTCTGGAGGGGGAAACACA GAGTGAAGGGGGACAGAGGCCTGAGAGGGAAATGTCTCTGGAGGGGGAAA CACAGAGTGAAGGGGGACAGAGGCCTGAGAGGGAAATGCCTCCGGAGGGG GGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAATGCCTCTGGA GGGGGGAACACAG	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	41/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(432): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAA TACATATATAACATGTATGTATTACATATATGTAATACATATATAACATG TATTACATATATGTAATACATATATAACATGTATTACATATATGTAATAC ATATATAACATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	400	0.0025	439	c.70 others(450): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTAATACATATATAACATGTATGTATTACATATATGTAA TACATATATAACATGTATTACATATATGTAATACATATATAACATGTATT ACATATATGTAATACATATATAACATGTATTACATATATGTAATACATAT ATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(432): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAACATG TATTACATATATGTAATACATATATAACATGTATTACATATATGTAATAC ATATATAACATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	400	0.0025	439	c.70 others(450): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAA TACATATATAACATGTATTACATATATGTAATACATATATAACATGTATT ACATATATGTAATACATATATAACATGTATTACATATATGTAATACATAT ATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PDCD6_chr5_266646_319974	318187	A A	ACCCTGCA others(432): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCC CACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCAC CTCCCGCCCTCACCCTGCACCTCCCCCCCCTCACCCTGCACCTCCCCCAA TCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCC ATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCT CCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCT GCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACC CTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTC ACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	360	0.0028	439	c.36 others(450): Show c.3672_*3673insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTC CCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCCCTCACC CTGCACCTCCCCCAATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAA CCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCC ACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACC TCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTC CATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCC TTCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCA CCCTT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3214		chr5	TogoVar
PDCD6_chr5_266646_319974	318187	A A	ACCCTGCA others(432): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCC CACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCAC CTCCCGCCCTCACCCTGCACCTCCCCCCCTCACCCTGCACCTCCCCCAAT CCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCA TCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTC CCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTG CACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCC TGCACCTCCCCCAATCCTTCACCTCCCCCCCTCCCTTCATCTCCCCCCTC ACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	360	0.0028	439	c.36 others(450): Show c.3672_*3673insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTC CCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCCTCACCC TGCACCTCCCCCAATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAAC CCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCA CTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCT CCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCC ATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCCTCCC TTCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCA CCCTT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3214		chr5	TogoVar
PITPNM3_chr17_6446263_6561555	6561389	C C	CTCCTCCT others(432): Show CTCCTCCTTCTCCTCTTCCTCCTCCTAGTCCTCCTCCTCCTCCCCTCCTC CTCTTCCTCCTCCTCCTTCTCATTATCCTCCTTCTCATTCTCTCCCTTCT CCTCCTCTTCCTTCTCCTCCTTTTCTCCTCCTTCTTCTCCTTTTCCTCCT CCTTCTTCTCCTTTTCCTCCTCCTTCTCTTCTTCCTCTTCTTCTTCCTCC TCCTCCCCTCCTTTTCCTCCTCCTCCTCTTTCTTCTCCTCTTCCTCCTCC TCCGCCCCCCTTCCTCCTTCTCCTCATCCTCCTTCCCTCCTCTTCCTCCT TTTCCTCCTTCTCCTCCCCTCTTCCTCCTCTTCCTCCTCCTCCTCCCCTC CTCCTCCCCTCTTCCTCCCCTCCTCCTCCTCTTCCTCCTCCTTCTCTTTA TTCTCCCCTCCTCCTCTTCCTCCTCCTTCTCCCTTCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	218	0.0046	439	c.-49 others(450): Show c.-4984_-4983insAGAGGAAGGGAGAAGGAGGAGGAAGAGGAGGAGG GGAGAATAAAGAGAAGGAGGAGGAAGAGGAGGAGGAGGGGAGGAAGAGGG GAGGAGGAGGGGAGGAGGAGGAGGAAGAGGAGGAAGAGGGGAGGAGAAGG AGGAAAAGGAGGAAGAGGAGGGAAGGAGGATGAGGAGAAGGAGGAAGGGG GGCGGAGGAGGAGGAAGAGGAGAAGAAAGAGGAGGAGGAGGAAAAGGAGG GGAGGAGGAGGAAGAAGAAGAGGAAGAAGAGAAGGAGGAGGAAAAGGAGA AGAAGGAGGAGGAAAAGGAGAAGAAGGAGGAGAAAAGGAGGAGAAGGAAG AGGAGGAGAAGGGAGAGAATGAGAAGGAGGATAATGAGAAGGAGGAGGAG GAAGAGGAGGAGGGGAGGAGGAGGAGGACTAGGAGGAGGAAGAGGAGAAG GAGGA	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4835		chr17	TogoVar
PLCXD1_chrX_276381_308356	296882	C C	CCACATGG others(432): Show CCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCCCC CACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTATC ACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTCCCA CATGGGATTAGGACGTGGACATCTTTGGGGCCATTATCCTGTCTACCTCT TGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTCCCACAT GGGATTAGGACGTGGACATCTTTGGGGCCATTATCCTGTCTACCTCTTGG GGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTACCTCATGGG GATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTATCACATGGGG ATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0104 a0001c0003t0104	a0001c0003t0104g0093 a0001c0003t0104g0093	1	176	0.0057	439	c.734 others(456): Show c.734-2182_734-2181insACATTATTCTGTCCCCCACATGGGGATT AGGACGTGGACATCTTTGGGGCCATTATTCTGTCTATCACATGGGGATTA GGACGTGGACATCTTTGGGGACATTATTCTGTCTCCCACATGGGATTAGG ACGTGGACATCTTTGGGGCCATTATCCTGTCTACCTCTTGGGGATTAGGA CGTGGACATCTTTGGGGACATTATTCTGTCTCCCACATGGGATTAGGACG TGGACATCTTTGGGGCCATTATCCTGTCTACCTCTTGGGGATTAGGACGT GGACATCTTTGGGGACATTATTCTGTCTACCTCATGGGGATTAGGACGTG GACATCTTTGGGGCCATTATTCTGTCTATCACATGGGGATTAGGACGTGG ACATCTTTGGGGCCATTATTCTGTCTATCACATGGGGATTAGGACGTGGA CATCTTTGGGG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PPP2R5C_chr14_101756709_101932977	101782639	C C	CCTCTCCC others(432): Show CCTCTCCCCCTTCCCCTCCCTCTCTCCCCTTCTCTCTCTCTTTCTCCCCT TCCCTCTCTCTCCCCTCTGTCTCTTTCTCCCCTTCCCTCTCTCTCCCCCC CTTTCTCCCCATTCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCTCCCC CTTCCCCTCCCTCTCCCCCTTCCCCTCCCTCTCTCCCCTTCTCTCTCTCT TTCTCCCCTTCCCTCTCTCTCCCCTCTGTCTCTTTCTCCCCTTCCCTCTC TCTCCCCCCCTTTCTCCCCATTCCCCTCCCTCTCTCCCCCTTCCCCTCCC TCTCTCCCCCTTCCCCTCCCTCTCCCCCTTCCCCTCCCTCTCTCCCCTTC TCTCTCTCTTTCTCCCCTTCCCTCTCTCTCCCCTCTGTCTCTTTCTCCCC TTCCCTCTCTCTCCCCCCCTTTCTCCCCATTCCCCTCCCT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	138	0.0073	439	c.94- others(454): Show c.94-3298_94-3297insTTCCCTCTCTCTCCCCCCCTTTCTCCCCAT TCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCTCCCCCTTCCCCTCCCT CTCCCCCTTCCCCTCCCTCTCTCCCCTTCTCTCTCTCTTTCTCCCCTTCC CTCTCTCTCCCCTCTGTCTCTTTCTCCCCTTCCCTCTCTCTCCCCCCCTT TCTCCCCATTCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCTCCCCCTT CCCCTCCCTCTCCCCCTTCCCCTCCCTCTCTCCCCTTCTCTCTCTCTTTC TCCCCTTCCCTCTCTCTCCCCTCTGTCTCTTTCTCCCCTTCCCTCTCTCT CCCCCCCTTTCTCCCCATTCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCT CTCCCCTTCTCTCTCTCTTTCTCCCCTTCCCTCTCTCTCCCCTCTGTCTC TTTCTCCCC	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTDSS2_chr11_445279_496399	475247	G G	GTACGGAC others(432): Show GTACGGACATATTCACGCGTTTGTGATATGGACATATTCACGCGTTTGTG TGATATGGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTG TGTGATACGGACATATTCACGTGTTTGTGTGATACGGACATTCACGCGTT TGTGTGATATGGACACATTCACGCGTTTGTGTGTAGGACATATTCACGTG TTTGTGTGTATGGACATATTCACGCGTTTGTGATACAGACATTCACGCGT TTGTGTGTACAGACATATTCACGAGTTTGTGTGATACAGATATATTCACG CATTTGTGATACGGCCATATTCACACGTTTGTGATACGGACATATTCACA CGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATTCA CACGTTTGTGTGATGCGGACATATTCATGCGTTTGTGTGA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0306 a0001c0001t0004g0306	1	346	0.0029	439	c.367 others(456): Show c.367+1297_367+1298insTGGACATATTCACGCGTTTGTGTGATAT GGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTGTGTGAT ACGGACATATTCACGTGTTTGTGTGATACGGACATTCACGCGTTTGTGTG ATATGGACACATTCACGCGTTTGTGTGTAGGACATATTCACGTGTTTGTG TGTATGGACATATTCACGCGTTTGTGATACAGACATTCACGCGTTTGTGT GTACAGACATATTCACGAGTTTGTGTGATACAGATATATTCACGCATTTG TGATACGGCCATATTCACACGTTTGTGATACGGACATATTCACACGTTTG TGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATTCACACGTT TGTGTGATGCGGACATATTCATGCGTTTGTGTGATACGGACATATTCACG CGTTTGTGATA	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	475247	G G	GTACGGAC others(432): Show GTACGGACATATTCACGCGTTTGTGATATGGACATATTCACGCGTTTGTG TGATATGGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTG TGTGATACGGACATATTCACGTGTTTGTGTGATACGGACATTCACGCGTT TGTGTGATATGGACACATTCACGCGTTTGTGTGTAGGACATATTCACGTG TTTGTGTGTATGGACATATTCACGCGTTTGTGATACAGACATTCACGCGT TTGTGTGTACAGACATATTCACGCGTTTGTGTGATACAGATATATTCACG CATTTGTGATACGGCCATATTCACACGTTTGTGATACGGACATATTCACA CGTTTGTGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATTCA CACGTTTGTGTGATGCGGACATATTCATGCGTTTGTGTGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02280.hp2 others(7): Show HG02109.hp2 HG02145.hp2 HG02280.hp2 HG02451.hp1 HG02630.hp1 HG03471.hp1 HG03486.hp1 NA18522.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0158 others(7): Show a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0165	10	346	0.0289	439	c.367 others(456): Show c.367+1297_367+1298insTGGACATATTCACGCGTTTGTGTGATAT GGACATATTCACGCTTTTGTGATACGGACATATTCACGCGTTTGTGTGAT ACGGACATATTCACGTGTTTGTGTGATACGGACATTCACGCGTTTGTGTG ATATGGACACATTCACGCGTTTGTGTGTAGGACATATTCACGTGTTTGTG TGTATGGACATATTCACGCGTTTGTGATACAGACATTCACGCGTTTGTGT GTACAGACATATTCACGCGTTTGTGTGATACAGATATATTCACGCATTTG TGATACGGCCATATTCACACGTTTGTGATACGGACATATTCACACGTTTG TGTGATACGGCCATATTCACGCGTTTGTGATACGGACATATTCACACGTT TGTGTGATGCGGACATATTCATGCGTTTGTGTGATACGGACATATTCACG CGTTTGTGATA	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SAMD11_chr1_918923_949574	934127	G G	GCGGCTGC others(432): Show GCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGGGGGCGGCTCCGTTACAGGTGGGCAGGGGCGGCTGCGTTACAGGTGG GCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGTCGGCTGCGTTAC AGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTG CGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCAGGGGCGG CTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGG AGTCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGCGGCTGCGTTACAGGT GGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0004 a0009c0014t0004	a0009c0014t0004g0259 a0009c0014t0004g0259	1	434	0.0023	439	c.843 others(456): Show c.843-1625_843-1624insGGGGGAGGCGGCTGCGTTACAGGTGGGC GGGGGGGGCGGCTCCGTTACAGGTGGGCAGGGGCGGCTGCGTTACAGGTG GGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGTCGGCTGCGTTA CAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCT GCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCAGGGGCG GCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGG GAGTCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGG GCGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGCGGCTGCGTTACAGG TGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGTCGGCTGCGT TACAGGTGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TATAACAT others(432): Show TATAACATATAATATATAATATATATTATATATAATATATTATATATAAT ATATTATATATTATATATAATATATTATATATAATATAATAATATATATT ATATATAATATATAATATATATGTTATATATAATATATATTATATGTTAT ATATAATATATATTTATATGTTATATATAATATATATTATATATTATATA TAATATATAATATATATTACATATAATATATATTATATATTATATATTAT ATATTATATATTATATATTATATATAATATATATTATATATTATATATAA TATATAAATATATTATATATAATATATAATATATAAATATATATTATATA TTATATATAATATATAAATATATATTATATATATTTAATATATATTTTAT ATATAAATATATATTATATATATAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	188	0.0053	439	c.193 others(458): Show c.193-29585_193-29584insTATATAAAATATATATTATATATATA ATATATATTTATATATAAAATATATATTAAATATATATAATATATATTTA TATATTATATATAATATATAATATATATTTATATATTATATATTATATAT AATATATTTATATATTATATATAATATATAATATATATTATATATAATAT ATAATATATAATATATAATATATAATATATAATATATATTATATGTAATA TATATTATATATTATATATAATATATAATATATATTATATATAACATATA AATATATATTATATATAACATATAATATATATTATATATAACATATATAT TATATATTATATATAATATATATTATTATATTATATATAATATATTATAT ATAATATATAATATATTATATATAATATATTATATATAATATATATTATA TATTATATGTTAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TATAATAT others(432): Show TATAATATATAATTATATAATATATATTATATATAATATATAATATATAA TTATATAATATATATTATATATAATATATAATATATAATATATATAATAT ATAATATATATAATATATATTTATATATTATATATAATATATATAATATA TATATTATATATAATATATATTATATATTATATATAATATATATTTATAT ATAATATAAATATATATTATGTTATATATAATATATAAATATATATATTA TATATAATATATATTTATATATAATATATAAATATAATTATATATTATAT ATAATATATAAATATATATTATATATTATATATAATATATATTTATATAT TATATAATATATAAATATATATTATATATATTTAATATATATTTTATATA TAAATTATATATTATATATATTTAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA21309.hp2 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0014 a0001c0001t0002 a0001c0002t0014	a0001c0001t0002g0037 a0001c0002t0014g0097 a0001c0001t0002g0037 a0001c0002t0014g0097	2	188	0.0106	439	c.193 others(458): Show c.193-29585_193-29584insTATATAAAATATATATTAAATATATA TAATATATAATTTATATATAAAATATATATTAAATATATATAATATATAT TTATATATTATATAATATATAAATATATATTATATATAATATATAATATA TATTTATATATTATATATAATATATAATTATATTTATATATTATATATAA ATATATATTATATATAATATATATATTTATATATTATATATAACATAATA TATATTTATATTATATATAAATATATATTATATATAATATATAATATATA TTATATATAATATATATATTATATATATTATATATAATATATAAATATAT ATTATATATATTATATATTATATATATTATATATTATATATTATATATAA TATATATTATATAATTATATATTATATATTATATATAATATATATTATAT AATTATATATTAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TATAATAT others(432): Show TATAATATATAATTATATAATATATATTATATATTATATATAATATATAA TTATATAATATATATTATATATAATATATAATATATAATATATATAATAT ATAATATATATAATATATATTTATATATTATATATAATATATATAATATA TATATTATATATAATATATATTATATATTATATATAATATATATTTATAT ATAATATAAATATATATTATGTTATATATAATATATAAATATATATATTA TATATAATATATATTTATATATAATATATAAATATAATTATATATTATAT ATAATATATAAATATATATTATATATTATATATAATATATATTTATATAT TATATAATATATAAATATATATTATATATATTTAATATATATTTTATATA TAAATTATATATTATATATATTTAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03579.hp1 HG03139.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0012 a0001c0001t0006 a0001c0001t0012	a0001c0001t0006g0053 a0001c0001t0012g0003 a0001c0001t0006g0053 a0001c0001t0012g0003	2	188	0.0106	439	c.193 others(458): Show c.193-29585_193-29584insTATATAAAATATATATTAAATATATA TAATATATAATTTATATATAAAATATATATTAAATATATATAATATATAT TTATATATTATATAATATATAAATATATATTATATATAATATATAATATA TATTTATATATTATATATAATATATAATTATATTTATATATTATATATAA ATATATATTATATATAATATATATATTTATATATTATATATAACATAATA TATATTTATATTATATATAAATATATATTATATATAATATATAATATATA TTATATATAATATATATATTATATATATTATATATAATATATAAATATAT ATTATATATATTATATATTATATATATTATATATTATATATTATATATAA TATATATTATATAATTATATATTATATATAATATATAATATATATTATAT AATTATATATTAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SCGB1C1_chr11_188078_199575	194850	A A	ACAGGGCC others(432): Show ACAGGGCCACAGCCACACACACAGACCCACATACAGAGGATCCCACTCAA GGAGCACATGTGCGAAAGTCCCCCACAGAGGGACACACAAATGGGGACAT CAGGAACACAGGGCCACAGCCACACACACAGACCCACATACAGAGGATCC CACTCAAGGAGCACACGTGCGAAAGTCCCCACAGAGGGGCACACAAGTGG GGACATCAGGAACACACTCAGGGCCACAGCCACACACACAGACCCACATA CAGAGGATCCCACTCAAGGAGCACATGTGCGAAAGTCCCCCACAGAGGGA CACACAAATGGGGACATCAGGAACACACTCAGGGCCACAGCCACACACAC AGACCCACATACAGAGGATCCCACTCAAGGAGCACATGTGCGAAAGTCCC CCACAGAGGGACACACAAATGGGGACATCAGGAACACACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG02486.hp1 HG02559.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0001 a0001c0004t0002g0001	2	354	0.0057	439	c.40 others(448): Show c.400_*401insCAGGGCCACAGCCACACACACAGACCCACATACAGA GGATCCCACTCAAGGAGCACATGTGCGAAAGTCCCCCACAGAGGGACACA CAAATGGGGACATCAGGAACACAGGGCCACAGCCACACACACAGACCCAC ATACAGAGGATCCCACTCAAGGAGCACACGTGCGAAAGTCCCCACAGAGG GGCACACAAGTGGGGACATCAGGAACACACTCAGGGCCACAGCCACACAC ACAGACCCACATACAGAGGATCCCACTCAAGGAGCACATGTGCGAAAGTC CCCCACAGAGGGACACACAAATGGGGACATCAGGAACACACTCAGGGCCA CAGCCACACACACAGACCCACATACAGAGGATCCCACTCAAGGAGCACAT GTGCGAAAGTCCCCCACAGAGGGACACACAAATGGGGACATCAGGAACAC ACT	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		276		chr11	TogoVar
SHANK1_chr19_50654255_50724802	50678788	G G	GTGATGGG others(432): Show GTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGATGATGGGGAGGG GTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGG GGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGG TGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTC AGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAA GGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTCAGGGTGATGGGGGGG TGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGTCAGGGTGAT GGAGAGGGGTCAGGGTGATGGGGAAAGGTCAGGGTGATGGGGAGGGGTCA GGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0012 a0003c0006t0012	a0003c0006t0012g0088 a0003c0006t0012g0088	1	316	0.0032	439	c.257 others(458): Show c.2578-6675_2578-6674insTCCTGACCCCTCCCCACACCCTGACC CCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCTTTCCCCATCAC CCTGACCCCTCTCCATCACCCTGACCCCTCTCCATCACACTGACCCCTCT CCATCACACTGACACCCCCCCATCACCCTGACCCCTTACCTGTAATGCTT GTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACCC CTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCT GACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAC ACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTC CCCATCACCCTGACCCCTCCCCATCATCCTGACCCCTCCCCACACCCTGA CCCCTCCCCATCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SLC37A3_chr7_140328752_140403530	140387779	A A	AATATAAA others(432): Show AATATAAATATATTATATATATTATATATAATATAAATATATTATATATA TTATACATAAATATAAATATATTATATATATTATACATAAATATAAATAT ATTATATATATTATATATAATATAAATATATTATATATATTATATATAAA TATAAATATATTATATATAAATATAAATATATTATATATTATATAAATAT AAATATATTATATATTATATAAATATAAATATATTATATATTATATATAA ATATAAATATATTATATATTATATATAATATAAATATATTATATATATTA TATATAATATAAATATATTAATATATTATATATAATATAAATATATTATA TATAATATAAATATATTATATATATTATATATAATATAAATATATTATAT ATATTATATATAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0236 a0002c0007t0001g0236	1	346	0.0029	439	c.-70 others(456): Show c.-70-5184_-70-5183insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATTTATATTATATATAATATATTAATATAT TTATATTATATATAATATATATAATATATTTATATTATATATAATATATA ATATATTTATATTTATATATAATATATAATATATTTATATTTATATAATA TATAATATATTTATATTTATATAATATATAATATATTTATATTTATATAT AATATATTTATATTTATATATAATATATATAATATATTTATATTATATAT AATATATATAATATATTTATATTTATGTATAATATATATAATATATTTAT ATTTATGTATAATATATATAATATATTTATATTATATATAATATATATAA TATATTTATAT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SMOC2_chr6_168436184_168672992	168489612	G G	GTCCCCTT others(432): Show GTCCCCTTGGATCACACTGTTTTAGAATGAAATATATCAAATCGTCTGGG TCCCCTTGCATCACACTGTTTTAGAATGAAATATATCAAATCGTCTGGGT CCCCTTGGATCACACTGTTTTAGAATGAAATATATCAAATCGTCTGGGTC CTCTTGGATCACACTGTTTTAGAGTGAAATATATGGAATCATCTGGGTCC CCTTGCATCACACTGTTTTAGAGTGAAATATATCGAATCATCTGGGTCCT CTTGGATCACAGTTTTAGAGTGAAATATATCGAATCGTCTGGGTCCCCTT GCATCACACTGTTTTAGAGTGAAATATATCGAATCATCTGGGTCCTCTTG GATCACACTGTTTTAGAGGGAAATATATCGAATCATCTGGGTCCCCTTGG ATCACACTGTTTTAGAGGGAAATATGTCGAATCATCTGGT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01496.hp2 HG02630.hp1 others(3): Show HG01256.hp2 HG01496.hp2 HG02630.hp1 HG02735.hp1 HG03492.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0005t0001	a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0003g0116 others(3): Show a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0003g0116 a0001c0001t0003g0120 a0001c0001t0004g0118 a0001c0005t0001g0162	6	180	0.0333	439	c.85- others(456): Show c.85-20245_85-19807dupCATCACACTGTTTTAGAATGAAATATAT CAAATCGTCTGGGTCCCCTTGGATCACACTGTTTTAGAATGAAATATATC AAATCGTCTGGGTCCTCTTGGATCACACTGTTTTAGAGTGAAATATATGG AATCATCTGGGTCCCCTTGCATCACACTGTTTTAGAGTGAAATATATCGA ATCATCTGGGTCCTCTTGGATCACAGTTTTAGAGTGAAATATATCGAATC GTCTGGGTCCCCTTGCATCACACTGTTTTAGAGTGAAATATATCGAATCA TCTGGGTCCTCTTGGATCACACTGTTTTAGAGGGAAATATATCGAATCAT CTGGGTCCCCTTGGATCACACTGTTTTAGAGGGAAATATGTCGAATCATC TGGTTCCCCTTGGATCACACTGTTTTAGAATGAAATATATCAAATCGTCT GGGTCCCCTTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMYD3_chr1_245744347_246512279	245798398	A A	ACACACCA others(432): Show ACACACCACACATACACACACACACATACACACACAAACACACACACATA CACACCACACACACACATACCCACACACACACATACATACACACCACACA CCCCCACACACATACACACACACAAAAATACACATACACACAAACACACA AATACACACATACACACAAAAATACACATACACACAAACACACAAATACA CACACAGAAATACACATACATACACACACACACACCCACATACCCACACA CATACCCACACACCCACAAACACACATACACACACACACACAAATACACA CACATACATAACACACCCACACACATACACACACACAATACACATACACA CAAACACACACATACACATACAAAAATACACACATACACACACACAAATA CACACATACACACACATACCCACACACACACACACATACT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	150	0.0067	439	c.107 others(460): Show c.1077-34250_1077-34249insAGTATGTGTGTGTGTGTGTGGGTA TGTGTGTGTATGTGTGTATTTGTGTGTGTGTATGTGTGTATTTTTGTATG TGTATGTGTGTGTTTGTGTGTATGTGTATTGTGTGTGTGTATGTGTGTGG GTGTGTTATGTATGTGTGTGTATTTGTGTGTGTGTGTGTATGTGTGTTTG TGGGTGTGTGGGTATGTGTGTGGGTATGTGGGTGTGTGTGTGTGTATGTA TGTGTATTTCTGTGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTTTG TGTGTATGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTTTGTGTGTG TGTATGTGTGTGGGGGTGTGTGGTGTGTATGTATGTGTGTGTGTGGGTAT GTGTGTGTGTGGTGTGTATGTGTGTGTGTTTGTGTGTGTATGTGTGTGTG TGTATGTGTGGTGTG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245798398	A A	ACACACCA others(432): Show ACACACCACACATACACACACACACATACACACACAAACACACACACATA CACACCACACACACATACCCACACACACACATACATACACACCACACACC CCCACACACATACACACACACAAAAATACACATACACACAAACACACAAA TACACACATACACACAAAAATACACATACACACAAACACACAAATACACA CACAGAAATACACATACATACACACACACACACCCACATACCCACACACA TACCCACACACCCACAAACACACATACACACACACACAAATACACACACA TACATAACACACCCACACACATACACACACACAATACACATACACACAAA CACACACATACACATACAAAAATACACACATACACACACACAAATACACA CATACACACACATACCCACACACACATACACACACATACT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00738.hp2 others(11): Show HG00423.hp1 HG00597.hp1 HG00738.hp2 HG01496.hp1 HG01981.hp1 HG02015.hp1 HG02965.hp2 HG02970.hp2 HG03130.hp2 HG03831.hp2 NA18747.hp2 NA18962.hp1 NA19086.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0014 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0014t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001	a0001c0001t0001g0034 a0001c0001t0001g0044 a0001c0001t0001g0046 others(11): Show a0001c0001t0001g0034 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0067 a0001c0001t0001g0082 a0001c0001t0002g0040 a0001c0002t0001g0062 a0001c0002t0002g0088 a0001c0006t0001g0035 a0001c0014t0002g0091 a0002c0003t0001g0096 a0002c0003t0002g0131 a0002c0004t0001g0121 a0002c0004t0001g0140	14	150	0.0933	439	c.107 others(460): Show c.1077-34250_1077-34249insAGTATGTGTGTGTATGTGTGTGTG GGTATGTGTGTGTATGTGTGTATTTGTGTGTGTGTATGTGTGTATTTTTG TATGTGTATGTGTGTGTTTGTGTGTATGTGTATTGTGTGTGTGTATGTGT GTGGGTGTGTTATGTATGTGTGTGTATTTGTGTGTGTGTGTATGTGTGTT TGTGGGTGTGTGGGTATGTGTGTGGGTATGTGGGTGTGTGTGTGTGTATG TATGTGTATTTCTGTGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTT TGTGTGTATGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTTTGTGTG TGTGTATGTGTGTGGGGGTGTGTGGTGTGTATGTATGTGTGTGTGTGGGT ATGTGTGTGTGGTGTGTATGTGTGTGTGTTTGTGTGTGTATGTGTGTGTG TGTATGTGTGGTGTG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245798398	A A	ACACACCA others(432): Show ACACACCACACATACACACACACACATACACACACAAACACACACACATA CACACCACACACACATACCCACACACACACATACATACACACCACACACC CCCACACACATACACACACACAAAAATACACATACACACAAACACACAAA TACACACATACACACAAAAATACACATACACACAAACACACAAATACACA CACAGAAATACACATACATACACACACACACCCACATACCCACACACATA CCCACACACCCACAAACACACATACACACACACACACAAATACACACACA TACATAACACACCCACACACATACACACACACAATACACATACACACAAA CACACACATACACATACAAAAATACACACATACACACACACAAATACACA CATACACACACATACCCACACACACATACACACACATACT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	150	0.0067	439	c.107 others(460): Show c.1077-34250_1077-34249insAGTATGTGTGTGTATGTGTGTGTG GGTATGTGTGTGTATGTGTGTATTTGTGTGTGTGTATGTGTGTATTTTTG TATGTGTATGTGTGTGTTTGTGTGTATGTGTATTGTGTGTGTGTATGTGT GTGGGTGTGTTATGTATGTGTGTGTATTTGTGTGTGTGTGTGTATGTGTG TTTGTGGGTGTGTGGGTATGTGTGTGGGTATGTGGGTGTGTGTGTGTATG TATGTGTATTTCTGTGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTT TGTGTGTATGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTTTGTGTG TGTGTATGTGTGTGGGGGTGTGTGGTGTGTATGTATGTGTGTGTGTGGGT ATGTGTGTGTGGTGTGTATGTGTGTGTGTTTGTGTGTGTATGTGTGTGTG TGTATGTGTGGTGTG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245798399	C C	CACACCAC others(432): Show CACACCACACATACACACACACACACATACACACAGAAACACACACACAT ACACACCACACACACATACCCACACACACACATACATACACACCACACAC CCCCACACACACACACACACAAAAATACACATACACACAAACACACAAAT ACACACATACACACAAAAATACACATACACACAAACACACAAATACACAC ACAGAAATACACATACATACACACACACCCCCACATACCCACACACATAC CCACACACCCACAAACACACATACACACACACACACACAAATACACACAC ATACATAACACACCCACACACATACACACACACAATACACATACACACAA ACACACACATACACATACAAAAATACACACATACACACACACAAATACAC ACATACACACACATACCCACACACACACATACACACACAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0107 a0002c0004t0001g0107	1	150	0.0067	439	c.107 others(460): Show c.1077-34251_1077-34250insATGTGTGTGTATGTGTGTGTGTGG GTATGTGTGTGTATGTGTGTATTTGTGTGTGTGTATGTGTGTATTTTTGT ATGTGTATGTGTGTGTTTGTGTGTATGTGTATTGTGTGTGTGTATGTGTG TGGGTGTGTTATGTATGTGTGTGTATTTGTGTGTGTGTGTGTGTATGTGT GTTTGTGGGTGTGTGGGTATGTGTGTGGGTATGTGGGGGTGTGTGTGTAT GTATGTGTATTTCTGTGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTT TTGTGTGTATGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTTTGTGT GTGTGTGTGTGTGGGGGTGTGTGGTGTGTATGTATGTGTGTGTGTGGGTA TGTGTGTGTGGTGTGTATGTGTGTGTGTTTCTGTGTGTATGTGTGTGTGT GTGTATGTGTGGTGT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245798399	C C	CACACCAC others(432): Show CACACCACACATACACACACACACACATACACACAGAAACACACACACAT ACACACCACACACACATACCCACACACACACATACATACACACCACACAC CCCCACACACATACACACACACAAAAATACACATACACACAAACACACAA ATACACACATACACACAAAAATACACATACACACAAACACACAAATACAC ACACAGAAATACACATACATACACACACACACCCACATACCCACACACAT ACCCACACACCCACAAACACACATACACACACACACACACAAATACACAC ACATACATAACACACCCACACACATACACACACACAATACACATACACAC AAACACACACATACACATACAAAAATACACACATACACACACAAATACAC ACATACACACACATACCCACACACACACATACACACACAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0129 a0002c0004t0001g0129	1	150	0.0067	439	c.107 others(460): Show c.1077-34251_1077-34250insATGTGTGTGTATGTGTGTGTGTGG GTATGTGTGTGTATGTGTGTATTTGTGTGTGTATGTGTGTATTTTTGTAT GTGTATGTGTGTGTTTGTGTGTATGTGTATTGTGTGTGTGTATGTGTGTG GGTGTGTTATGTATGTGTGTGTATTTGTGTGTGTGTGTGTGTATGTGTGT TTGTGGGTGTGTGGGTATGTGTGTGGGTATGTGGGTGTGTGTGTGTATGT ATGTGTATTTCTGTGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTTT GTGTGTATGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTTTGTGTGT GTGTATGTGTGTGGGGGTGTGTGGTGTGTATGTATGTGTGTGTGTGGGTA TGTGTGTGTGGTGTGTATGTGTGTGTGTTTCTGTGTGTATGTGTGTGTGT GTGTATGTGTGGTGT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245798399	C C	CACACCAC others(432): Show CACACCACACATACACACACACATACACACACAAACACACACACATACAC ACCACACACACATACCCACACACACACATACATACACACACACCACACAC CCCCACACACATACACACACACAAAAATACACATACACACAAACACACAA ATACACACATACACACAAAAATACACATACACACAAACACACAAATACAC ACACAGAAATACACATACATACACACACACACCCACATACCCACACACAC ATACCCACACCCACACACATACACACACACACACAAATACACACACATAC ACAACACACCCACACACATACACACACACAAAACACATACACACAAACAC AAATACACACATACACATACAAAAATACACACATACACACACACAAATAC ACACATACACACACATACCCACACACACATACACACACAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01081.hp1 HG01109.hp1 others(25): Show HG00741.hp1 HG01081.hp1 HG01109.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01981.hp2 HG02004.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03471.hp2 HG03579.hp1 NA18522.hp1 NA19030.hp1 NA19240.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(6): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009 a0002c0003 a0002c0004 a0002c0005 a0002c0007 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0009t0001 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0005t0001 a0002c0005t0002 a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 a0002c0008t0002	a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0002g0017 others(25): Show a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0002g0017 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0024 a0001c0002t0002g0037 a0001c0002t0002g0078 a0001c0006t0001g0022 a0001c0009t0001g0002 a0002c0003t0001g0137 a0002c0003t0001g0144 a0002c0003t0001g0148 a0002c0003t0002g0095 a0002c0003t0002g0143 a0002c0003t0002g0145 a0002c0003t0002g0147 a0002c0004t0001g0113 a0002c0004t0001g0119 a0002c0004t0002g0139 a0002c0005t0001g0136 a0002c0005t0002g0106 a0002c0005t0002g0115 a0002c0007t0001g0120 a0002c0007t0004g0134 a0002c0008t0001g0128 a0002c0008t0001g0135 a0002c0008t0002g0125	28	150	0.1867	439	c.107 others(460): Show c.1077-34251_1077-34250insATGTGTGTGTATGTGTGTGTGGGT ATGTGTGTGTATGTGTGTATTTGTGTGTGTGTATGTGTGTATTTTTGTAT GTGTATGTGTGTATTTGTGTTTGTGTGTATGTGTTTTGTGTGTGTGTATG TGTGTGGGTGTGTTGTGTATGTGTGTGTATTTGTGTGTGTGTGTGTATGT GTGTGGGTGTGGGTATGTGTGTGTGGGTATGTGGGTGTGTGTGTGTATGT ATGTGTATTTCTGTGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTTT GTGTGTATGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTTTGTGTGT GTGTATGTGTGTGGGGGTGTGTGGTGTGTGTGTATGTATGTGTGTGTGTG GGTATGTGTGTGTGGTGTGTATGTGTGTGTGTTTGTGTGTGTATGTGTGT GTGTATGTGTGGTGT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SORCS2_chr4_7187538_7747827	7449245	C C	CCCTCCCT others(432): Show CCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCT CCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT TCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCC CTCCCTTCCGTACTTCCTCTCCCCTCCCTCCCTCTTTTCCTTTCTCTCCC CTCCATCCCGCCCTCCCTCCCTTCCTCTTTTCCCTCTCTT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0080 a0001c0003t0011g0080	1	168	0.0060	439	c.548 others(458): Show c.548+52897_548+52898insTCCTCCCTCCCTTCCTCCCTCCCTCC CTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCT CCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCT CCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCC CTCCCTCCCTTCCTCCCTCCCTTCCGTACTTCCTCTCCCCTCCCTCCCTC TTTTCCTTTCTCTCCCCTCCATCCCGCCCTCCCTCCCTTCCTCTTTTCCC TCTCTTCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA13_chr13_24155720_24312069	24190169	T T	TCATTATA others(432): Show TCATTATATAACATATAATGATATATAATATATATCATTATATAACATAT AATGATATATAATATATATCATTATATAACATATAATGATATATAATATA TATCATTATATAACATATAATGATATATAATATATATCATTATATAACAT ATAATGATATATAATATATATCATTATATAACATATAATGATATATAATA TATATCATTATATAACATATAATGATATATAATATATATCATTATATAAC ATATAATGATATATAATATATATCATTATATAACATATAATGATATATAA TATATATCATTATATAACATATAATGATATATAATATATATCATTATATA ACATATAATGATATATAATATATATCATTATATAACATATAATGATATAT AATATATATCATTATATAACATATAATGATATATAATATA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0144 a0001c0003t0005g0144	1	356	0.0028	439	c.-11 others(460): Show c.-112+29237_-112+29238insCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA ATGATATATAATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12			chr13	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(432): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGG GAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAA CGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGGGAGG GGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGG AGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGG GGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGG GGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGAACGGGG GAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	251	0.0040	439	c.34 others(448): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCAT CTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCT TCCCCCTCCCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCC CCCGTTCCCGCTTCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCC CCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCA CCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTTCC CCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SRXN1_chr20_641615_658200	642132	G G	GGGGGGGG others(432): Show GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGA GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGT GGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	422	0.0024	439	c.65 others(450): Show c.6581_*6582insAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCC AGGCAACTCCACCCCCGCTGGGCCCCCCCCCCCCAGGCAACTCCACCCCC GCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCACCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGC TGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4482		chr20	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(432): Show GATTATAAAATATAATCATATATAATATATGATTATAAAATATAATCATA TATTATATATGATTATAAAATATAATCATATATTATATATGATTATAAAA TATAATTATATATTATATATGATTATAAAATATAATTATATATATTATAT ATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTA TATATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAA TTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTAT ATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATATATGATTATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0088 a0001c0002t0002g0088	1	268	0.0037	439	c.75 others(450): Show c.7501_*7502insATTATAAAATATAATCATATATAATATATGATTA TAAAATATAATCATATATTATATATGATTATAAAATATAATCATATATTA TATATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAA TTATATATATTATATATGATTATAAAATATAATTATATATTATATATGAT TATAAAATATAATTATATATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(432): Show GATTATAAAATATAATCATATATAATATATGATTATAAAATATAATCATA TATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAAA TATAATTATATATTATATATGATTATAAAATATAATTATATATATTATAT ATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTA TATATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAA TTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTAT ATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATATATGATTATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 NA18986.hp2 NA19060.hp2 others(2): Show HG00642.hp2 NA18986.hp2 NA19060.hp2 NA19077.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0029 a0001c0002t0002g0033 a0001c0002t0002g0044 others(2): Show a0001c0002t0002g0029 a0001c0002t0002g0033 a0001c0002t0002g0044 a0001c0002t0002g0055 a0001c0002t0002g0064	5	268	0.0187	439	c.75 others(450): Show c.7501_*7502insATTATAAAATATAATCATATATAATATATGATTA TAAAATATAATCATATATTATATATGATTATAAAATATAATTATATATTA TATATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAA TTATATATATTATATATGATTATAAAATATAATTATATATTATATATGAT TATAAAATATAATTATATATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(432): Show GGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGTGGGGAGGGAGAGAGAGA AGGGGAGGCGGAGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAG GGGGGAGAGAGGGGGAGGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGAG GGGGGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGAGAGAGAGAGGGGGAG GGAGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGG GAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGG GGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGA GGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGG GGGAGAGAGAGGGGGAGGGAGGGAGGGAGGGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0078 a0001c0003t0078	a0001c0003t0078g0218 a0001c0003t0078g0218	1	276	0.0036	439	c.-18 others(458): Show c.-18+37479_-18+37480insTCTCTCTCTCCCTCCCTCCCTCCCTC CCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCT CCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCT CTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCT CTCTCTCCCCCTCCCTCCCCCTCTCTCTCTCCCCCTCCCTCCCCCCTCCC TCCCCCTCTCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCCCCCCCTC CCCCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCC TCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTCCCCCT CTCTCTCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TCF3_chr19_1604292_1657615	1627981	C C	CAGGGGAT others(432): Show CAGGGGATGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAACT CACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGG AAGGGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCT CACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGG GAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAG CTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGTGG GAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAA CTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAG	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18948.hp2 NA19007.hp1 HG02523.hp2 NA18948.hp2 NA19007.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0014 a0002c0001t0095 a0002c0001t0014 a0002c0001t0095	a0002c0001t0014g0058 a0002c0001t0014g0059 a0002c0001t0095g0317 a0002c0001t0014g0058 a0002c0001t0014g0059 a0002c0001t0095g0317	3	352	0.0085	439	c.299 others(454): Show c.299-556_299-555insCTGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGC TGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTC ACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGC TGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGTTCTG CTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCC CACCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCC TCATCCCCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TDP2_chr6_24644979_24671899	24648981	T T	TCACCACG others(432): Show TCACCACGCCTGGCTAATTTGTTTGTGTTTTTAGTAGAGACGGGGTTTCA CCATGTTGATCAGGCTGGTCTCTAACTCCTGACCTCGTGATCCGCCTGTC TTGGCCTCACAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCC TAAAAGTGGTTTGTTTCTATACACTTCATTTATAATTTTTTAGATTTTGT CATACGCAGTATACAAGAAGGTATTTCATGTAGATGCTGTGACTTATATA AAGGAAATGAAACGTCCATGGTTTTAAAACAATTTGACAATTATTTATTT ATTTTTGAGACAGAGTTTCACTCTTCTCGCCCAGGCTGGAGTGTAATGGC AAGATCACGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCC TGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG03834.hp1 NA18978.hp1 HG02738.hp1 HG03834.hp1 NA18978.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0012 a0001c0003t0001g0012	3	418	0.0072	439	c.18 others(450): Show c.1806_*1807insGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCT GAAGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGT GATCTTGCCATTACACTCCAGCCTGGGCGAGAAGAGTGAAACTCTGTCTC AAAAATAAATAAATAATTGTCAAATTGTTTTAAAACCATGGACGTTTCAT TTCCTTTATATAAGTCACAGCATCTACATGAAATACCTTCTTGTATACTG CGTATGACAAAATCTAAAAAATTATAAATGAAGTGTATAGAAACAAACCA CTTTTAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGTGA GGCCAAGACAGGCGGATCACGAGGTCAGGAGTTAGAGACCAGCCTGATCA ACATGGTGAAACCCCGTCTCTACTAAAAACACAAACAAATTAGCCAGGCG TGGTG	TDP2	ENSG00000111802.14	transcript	ENST00000378198.9	protein_coding		997		chr6	TogoVar

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