Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NBAS_chr2_15161916_15566334	15379415	T T	TAAGAAGC others(305): Show TAAGAAGCTGATGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGGGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGACTCAAAA AAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0028 a0028	a0028c0024 a0028c0024	a0028c0024t0001 a0028c0024t0001	a0028c0024t0001g0028 a0028c0024t0001g0028	1	224	0.0045	312	c.359 others(329): Show c.3590+186_3590+187insCTTTTTTTTTTTTTTTTGAGTCGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCCCTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTCCATCAGCTTCTT	NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	30/51			chr2	TogoVar
NBAS_chr2_15161916_15566334	15379415	T T	TAAGAAGC others(305): Show TAAGAAGCTGATGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGGGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG00733.hp1 others(85): Show HG00280.hp2 HG00639.hp2 HG00733.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01496.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03041.hp2 HG03195.hp2 HG03486.hp1 HG03491.hp1 HG03579.hp1 HG03669.hp1 HG03704.hp1 HG03834.hp1 NA18522.hp2 NA18612.hp2 NA18939.hp1 NA18948.hp2 NA18960.hp1 NA18967.hp2 NA18968.hp2 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18980.hp2 NA18986.hp1 NA18990.hp1 NA18992.hp1 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19060.hp2 NA19064.hp2 NA19072.hp2 NA19080.hp1 NA19081.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(19): Show a0001 a0002 a0003 a0006 a0009 a0011 a0012 a0013 a0014 a0015 a0017 a0022 a0023 a0024 a0025 a0026 a0029 a0032 a0033 a0037 a0039 a0040	a0001c0003 a0001c0023 a0002c0002 others(24): Show a0001c0003 a0001c0023 a0002c0002 a0002c0009 a0003c0010 a0003c0011 a0003c0021 a0006c0008 a0009c0027 a0011c0016 a0012c0012 a0013c0015 a0014c0028 a0015c0048 a0015c0050 a0017c0049 a0022c0044 a0023c0052 a0024c0026 a0025c0029 a0026c0018 a0029c0043 a0032c0025 a0033c0047 a0037c0045 a0039c0051 a0040c0022	a0001c0003t0001 a0001c0023t0001 a0002c0002t0001 others(24): Show a0001c0003t0001 a0001c0023t0001 a0002c0002t0001 a0002c0009t0001 a0003c0010t0001 a0003c0011t0001 a0003c0021t0001 a0006c0008t0001 a0009c0027t0001 a0011c0016t0001 a0012c0012t0001 a0013c0015t0001 a0014c0028t0001 a0015c0048t0001 a0015c0050t0001 a0017c0049t0001 a0022c0044t0001 a0023c0052t0001 a0024c0026t0001 a0025c0029t0001 a0026c0018t0001 a0029c0043t0001 a0032c0025t0001 a0033c0047t0001 a0037c0045t0001 a0039c0051t0001 a0040c0022t0001	a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0023 others(85): Show a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0023 a0001c0003t0001g0030 a0001c0003t0001g0033 a0001c0003t0001g0039 a0001c0023t0001g0007 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0166 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0190 a0002c0002t0001g0192 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0219 a0002c0009t0001g0160 a0002c0009t0001g0165 a0002c0009t0001g0191 a0002c0009t0001g0193 a0003c0010t0001g0048 a0003c0011t0001g0022 a0003c0011t0001g0034 a0003c0021t0001g0009 a0006c0008t0001g0016 a0006c0008t0001g0017 a0009c0027t0001g0026 a0011c0016t0001g0177 a0012c0012t0001g0032 a0012c0012t0001g0143 a0013c0015t0001g0002 a0013c0015t0001g0223 a0014c0028t0001g0010 a0015c0048t0001g0183 a0015c0050t0001g0200 a0017c0049t0001g0188 a0022c0044t0001g0176 a0023c0052t0001g0148 a0024c0026t0001g0021 a0025c0029t0001g0031 a0026c0018t0001g0153 a0029c0043t0001g0027 a0032c0025t0001g0003 a0033c0047t0001g0159 a0037c0045t0001g0221 a0039c0051t0001g0194 a0040c0022t0001g0008	88	224	0.3929	312	c.359 others(329): Show c.3590+186_3590+187insCTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCCCTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTCCATCAGCTTCTT	NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	30/51			chr2	TogoVar
NBAS_chr2_15161916_15566334	15379415	T T	TAAGAAGC others(305): Show TAAGAAGCTGATGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TTCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGGGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0216 a0002c0002t0001g0216	1	224	0.0045	312	c.359 others(329): Show c.3590+186_3590+187insCTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCCCTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTCCATCAGCTTCTT	NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	30/51			chr2	TogoVar
NBAS_chr2_15161916_15566334	15379415	T T	TAAGAAGC others(305): Show TAAGAAGCTGATGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGTTCAAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGGGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0038 a0038	a0038c0046 a0038c0046	a0038c0046t0001 a0038c0046t0001	a0038c0046t0001g0210 a0038c0046t0001g0210	1	224	0.0045	312	c.359 others(329): Show c.3590+186_3590+187insCTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCCCTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGAACTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTCCATCAGCTTCTT	NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	30/51			chr2	TogoVar
NBAS_chr2_15161916_15566334	15379415	T T	TAAGAAGC others(305): Show TAAGAAGCTGATGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACTAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG01109.hp1 others(10): Show HG00408.hp2 HG00438.hp2 HG01109.hp1 HG01358.hp2 HG02451.hp2 HG02698.hp1 HG03041.hp1 HG03540.hp2 NA18948.hp1 NA18963.hp2 NA19010.hp2 NA19072.hp1 NA19084.hp1	a0005 a0008 a0010 others(2): Show a0005 a0008 a0010 a0016 a0019	a0005c0006 a0005c0054 a0008c0014 others(4): Show a0005c0006 a0005c0054 a0008c0014 a0008c0019 a0010c0013 a0016c0055 a0019c0020	a0005c0006t0001 a0005c0054t0001 a0008c0014t0001 others(4): Show a0005c0006t0001 a0005c0054t0001 a0008c0014t0001 a0008c0019t0001 a0010c0013t0001 a0016c0055t0001 a0019c0020t0001	a0005c0006t0001g0136 a0005c0006t0001g0138 a0005c0006t0001g0139 others(10): Show a0005c0006t0001g0136 a0005c0006t0001g0138 a0005c0006t0001g0139 a0005c0006t0001g0140 a0005c0006t0001g0141 a0005c0006t0001g0142 a0005c0054t0001g0137 a0008c0014t0001g0133 a0008c0014t0001g0134 a0008c0019t0001g0004 a0010c0013t0001g0131 a0016c0055t0001g0135 a0019c0020t0001g0005	13	224	0.0580	312	c.359 others(329): Show c.3590+186_3590+187insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTCCATCAGCTTCTT	NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	30/51			chr2	TogoVar
NBDY_chrX_56724243_56824179	56725501	G G	GTAACAAT others(305): Show GTAACAATATTGTTATATTGTTATATATACATATAACAATATTGTTATAT TGTTATATATACATATAACAATATTGTTATATTGTTATATATACATATAA CAATATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGTT ATATATACATATAACAATATTGTTATATTGTTATATATACATATAACAAT ATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGTTATAT ATACATATAACAATATTGTTATATTGTTATATATACATATAACAATATTG TTATATATACATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG03453.hp2 HG02970.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0032 a0001c0001t0003g0027 a0001c0001t0003g0032	2	160	0.0125	312	c.-38 others(323): Show c.-3853_-3852insTAACAATATTGTTATATTGTTATATATACATATA ACAATATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGT TATATATACATATAACAATATTGTTATATTGTTATATATACATATAACAA TATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGTTATA TATACATATAACAATATTGTTATATTGTTATATATACATATAACAATATT GTTATATTGTTATATATACATATAACAATATTGTTATATTGTTATATATA CATATAACAATATTGTTATATATACATA	NBDY	ENSG00000204272.13	transcript	ENST00000374922.9	protein_coding		3741		chrX	TogoVar
NCOR2_chr12_124319415_124572612	124339766	C C	CCCCCATC others(305): Show CCCCCATCCATCCATCCATCCACCCACGCAGCTAACCTAACTTCCCACTG ACCCACACACCCACCTAACCCGACCACCCCCCCATCCATCCATCCATCCA CCCACGCAGCTAACCTAACTTCCCACTGACCCACACACCCACCTAACCCG ACCACCTCCCCATCCATCCATCCATCCACCCACGCAGCTAACCTAACTTC CCACTGACCCACCCACCCACCTAACCCGACCACCCCCCCATCCATCCATC CATCCACCCACGCAGCTAACCTAACTTCCCACTGACCCACACACCCACCT AACCCGACCACCT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0121 a0002c0121	a0002c0121t0007 a0002c0121t0007	a0002c0121t0007g0167 a0002c0121t0007g0167	1	234	0.0043	312	c.568 others(329): Show c.5687+239_5687+240insAGGTGGTCGGGTTAGGTGGGTGTGTGGG TCAGTGGGAAGTTAGGTTAGCTGCGTGGGTGGATGGATGGATGGATGGGG GGGTGGTCGGGTTAGGTGGGTGGGTGGGTCAGTGGGAAGTTAGGTTAGCT GCGTGGGTGGATGGATGGATGGATGGGGAGGTGGTCGGGTTAGGTGGGTG TGTGGGTCAGTGGGAAGTTAGGTTAGCTGCGTGGGTGGATGGATGGATGG ATGGGGGGGTGGTCGGGTTAGGTGGGTGTGTGGGTCAGTGGGAAGTTAGG TTAGCTGCGTGGGTGGATGGATGGATGGATGGGG	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	39/48			chr12	TogoVar
NDUFA9_chr12_4644114_4699317	4661708	A A	ACTAGAGT others(305): Show ACTAGAGTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCT CTGTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0181	1	362	0.0028	312	c.553 others(327): Show c.553-814_553-813insTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTTTTGCTCTGTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTAGAGTTCTT	NDUFA9	ENSG00000139180.11	transcript	ENST00000266544.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
NDUFB4_chr3_120591336_120607507	120600105	T T	TAAGGTTT others(305): Show TAAGGTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02630.hp1 HG02723.hp1 others(2): Show HG01175.hp1 HG02630.hp1 HG02723.hp1 HG03209.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0046 a0001c0001t0001g0013 a0001c0001t0001g0046	5	424	0.0118	312	c.181 others(327): Show c.181-991_181-990insTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCAAGGTTTTTTTTTTT	NDUFB4	ENSG00000065518.8	transcript	ENST00000184266.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
NDUFB4_chr3_120591336_120607507	120600110	T T	TTTTTTTT others(305): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCAAGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01975.hp1 HG00323.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	2	424	0.0047	312	c.181 others(327): Show c.181-991_181-990insTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCAAGGTTTTTTTTTT	NDUFB4	ENSG00000065518.8	transcript	ENST00000184266.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
NDUFC1_chr4_139284931_139307477	139289132	C C	CAAAAAAA others(305): Show CAAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCG AGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAA AAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	376	0.0027	312	c.98 others(321): Show c.980_*981insTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGC CCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCC CTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCTTTTTTTTTTTTTTTTT	NDUFC1	ENSG00000109390.13	transcript	ENST00000394223.2	protein_coding		798		chr4	TogoVar
NDUFS6_chr5_1796407_1821048	1812526	T T	TGACTCCT others(305): Show TGACTCCTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CGACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	444	0.0023	312	c.187 others(329): Show c.187-1801_187-1800insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACGACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCGACTCCTCTTTT	NDUFS6	ENSG00000145494.12	transcript	ENST00000274137.10	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NDUFS6_chr5_1796407_1821048	1812526	T T	TGACTCCT others(305): Show TGACTCCTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CGACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(109): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01099.hp1 HG01106.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02129.hp1 HG02135.hp1 HG02148.hp2 HG02273.hp1 HG02523.hp1 HG02602.hp1 HG02647.hp2 HG02738.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03209.hp1 HG03239.hp1 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04228.hp1 NA18940.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18994.hp2 NA18998.hp2 NA19002.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19063.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19078.hp2 NA19079.hp2 NA19081.hp2 NA19082.hp2 NA19085.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(31): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0084 a0001c0001t0001g0093 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0002g0012	112	444	0.2523	312	c.187 others(329): Show c.187-1801_187-1800insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACGACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCGACTCCTCTTTT	NDUFS6	ENSG00000145494.12	transcript	ENST00000274137.10	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NDUFS6_chr5_1796407_1821048	1812526	T T	TGACTCCT others(305): Show TGACTCCTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCGGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CGACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA19240.hp2 HG02723.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0108 a0001c0001t0001g0109	2	444	0.0045	312	c.187 others(329): Show c.187-1801_187-1800insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACGACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCGACTCCTCTTTT	NDUFS6	ENSG00000145494.12	transcript	ENST00000274137.10	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NDUFS6_chr5_1796407_1821048	1812526	T T	TGACTCCT others(305): Show TGACTCCTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CGACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	444	0.0023	312	c.187 others(329): Show c.187-1801_187-1800insTTTTTTTTTTTTTTTTTTGAGATGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACGACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCGACTCCTCTTTT	NDUFS6	ENSG00000145494.12	transcript	ENST00000274137.10	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NFIB_chr9_14076848_14319141	14205256	G G	GGGGAAGG others(305): Show GGGGAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAAGGGAGGAAGGAAGGAAGGAAGGAAGGAAG GAAAGGGAGGAAATGAAGGGAGGGAAAGGAGGGTGAGAGGGAGGGAGGGA AGGAAGGGAGGGAGGGAGGGGAGGAAATGAAGGGAGGAAAAGGAGAAAAT GAAAGGAAGGGAAGGGAAGGAAGGGAGAGAGGAAGGGAGGGAGGAAAGGA AGGAGAGGAGGGAGGGAAAGCAGGGAAGGAAGGAAGAAAGGGAGGGAGAG AGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0037 a0001c0001t0040g0037	1	304	0.0033	312	c.563 others(331): Show c.563-25477_563-25476insTCCCTCCCTCCCTCTCTCCCTCCCTT TCTTCCTTCCTTCCCTGCTTTCCCTCCCTCCTCTCCTTCCTTTCCTCCCT CCCTTCCTCTCTCCCTTCCTTCCCTTCCCTTCCTTTCATTTTCTCCTTTT CCTCCCTTCATTTCCTCCCCTCCCTCCCTCCCTTCCTTCCCTCCCTCCCT CTCACCCTCCTTTCCCTCCCTTCATTTCCTCCCTTTCCTTCCTTCCTTCC TTCCTTCCTTCCTCCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTCCC	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NGEF_chr2_232873701_233018256	232981166	C C	CAAAAAGT others(305): Show CAAAAAGTATAACTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0023 a0001c0002t0016g0023	1	362	0.0028	312	c.-74 others(329): Show c.-74-6203_-74-6202insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCTCAGTTATACTTTTT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232981166	C C	CAAAAAGT others(305): Show CAAAAAGTATAACTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG01106.hp2 others(41): Show HG00323.hp1 HG00642.hp2 HG01106.hp2 HG01109.hp1 HG01884.hp1 HG02055.hp2 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02257.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02602.hp2 HG02630.hp2 HG02683.hp1 HG02738.hp1 HG02886.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03927.hp2 HG04115.hp1 NA18943.hp1 NA18962.hp1 NA18971.hp1 NA19005.hp2 NA19054.hp1 NA19056.hp1 NA19085.hp2 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0012 a0004c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 a0001c0001t0023 a0001c0001t0029 a0001c0002t0003 a0001c0002t0009 a0001c0002t0011 a0001c0002t0035 a0001c0003t0005 a0001c0004t0004 a0001c0005t0001 a0001c0005t0005 a0001c0005t0006 a0001c0005t0007 a0001c0005t0018 a0001c0007t0007 a0001c0012t0010 a0004c0020t0022	a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0125 others(41): Show a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0125 a0001c0001t0001g0237 a0001c0001t0001g0337 a0001c0001t0002g0024 a0001c0001t0002g0028 a0001c0001t0002g0051 a0001c0001t0002g0123 a0001c0001t0002g0150 a0001c0001t0002g0241 a0001c0001t0002g0283 a0001c0001t0005g0160 a0001c0001t0006g0246 a0001c0001t0007g0044 a0001c0001t0008g0119 a0001c0001t0008g0235 a0001c0001t0014g0129 a0001c0001t0014g0130 a0001c0001t0015g0236 a0001c0001t0023g0011 a0001c0001t0029g0128 a0001c0002t0003g0282 a0001c0002t0009g0116 a0001c0002t0011g0251 a0001c0002t0035g0361 a0001c0003t0005g0041 a0001c0003t0005g0229 a0001c0004t0004g0032 a0001c0004t0004g0033 a0001c0004t0004g0034 a0001c0004t0004g0036 a0001c0004t0004g0037 a0001c0004t0004g0038 a0001c0004t0004g0039 a0001c0004t0004g0045 a0001c0005t0001g0026 a0001c0005t0005g0287 a0001c0005t0006g0334 a0001c0005t0007g0025 a0001c0005t0018g0007 a0001c0007t0007g0042 a0001c0012t0010g0340 a0004c0020t0022g0006	44	362	0.1216	312	c.-74 others(329): Show c.-74-6203_-74-6202insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCTCAGTTATACTTTTT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232981166	C C	CAAAAAGT others(305): Show CAAAAAGTATAACTGAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp2 HG01071.hp2 others(15): Show HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01192.hp2 HG01261.hp2 HG02148.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02683.hp2 HG02886.hp1 HG02896.hp2 HG03704.hp1 HG03834.hp2 NA18522.hp2 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0011 a0001c0012	a0001c0001t0003 a0001c0001t0015 a0001c0002t0011 others(7): Show a0001c0001t0003 a0001c0001t0015 a0001c0002t0011 a0001c0002t0012 a0001c0003t0005 a0001c0004t0004 a0001c0005t0001 a0001c0005t0007 a0001c0011t0001 a0001c0012t0007	a0001c0001t0003g0279 a0001c0001t0003g0358 a0001c0001t0015g0276 others(15): Show a0001c0001t0003g0279 a0001c0001t0003g0358 a0001c0001t0015g0276 a0001c0001t0015g0280 a0001c0001t0015g0281 a0001c0002t0011g0131 a0001c0002t0012g0056 a0001c0003t0005g0136 a0001c0003t0005g0286 a0001c0004t0004g0331 a0001c0005t0001g0285 a0001c0005t0001g0329 a0001c0005t0001g0330 a0001c0005t0007g0052 a0001c0011t0001g0088 a0001c0011t0001g0089 a0001c0011t0001g0114 a0001c0012t0007g0118	18	362	0.0497	312	c.-74 others(329): Show c.-74-6203_-74-6202insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCACGCCCGGCCTCAGTTATACTTTTT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NHP2_chr5_178144463_178158885	178157188	A A	AGCTAATT others(305): Show AGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	418	0.0024	312	c.-33 others(323): Show c.-3372_-3371insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAATTAGC	NHP2	ENSG00000145912.10	transcript	ENST00000274606.8	protein_coding		3304		chr5	TogoVar
NOS3_chr7_150986017_151019588	150995593	C C	CCCCCATC others(305): Show CCCCCATCCCACCCCTGCACCCCTCCCATCCCACCTCTAAACCCCTCCTC CCTCTCCCCCGTCCCACCCCTAAACCCCACCTCCCTGTCCCCCTCTAAAC CCCTCCTCCCTCTCCCCATCCCACCCCTGCACCCTTCCTCCCTCTGCCCC CGTCCCACGCCTGTACTCCTCCTCCCTCTCCCCCCGTCACACCCCTGCAC CCCTCCTCCCTCTCCCCATCCCATCCCTGCACCCCTCCTCCCTCTGCCCC CGTCCCACCCCTAAACCCCTCCTCCCTCTGCCCCACCCCACCCTTGCACC CCTCCTCCCTCTT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0099 a0002c0003t0001g0099	1	382	0.0026	312	c.270 others(327): Show c.270+283_270+284insATCCCACCCCTGCACCCCTCCCATCCCACC TCTAAACCCCTCCTCCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCCC TGTCCCCCTCTAAACCCCTCCTCCCTCTCCCCATCCCACCCCTGCACCCT TCCTCCCTCTGCCCCCGTCCCACGCCTGTACTCCTCCTCCCTCTCCCCCC GTCACACCCCTGCACCCCTCCTCCCTCTCCCCATCCCATCCCTGCACCCC TCCTCCCTCTGCCCCCGTCCCACCCCTAAACCCCTCCTCCCTCTGCCCCA CCCCACCCTTGCACCCCTCCTCCCTCTTCCCC	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
NOS3_chr7_150986017_151019588	150995593	C C	CCCCCATC others(305): Show CCCCCATCCCACCCCTGCCCCCCCTCCCATCCCACCTCTAAACCCCTCCT CCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCCCTGTCCCCCTCTAAA CCCCACCTCCCTCTCCCCATCCCACCCCTGCACCCTTCCTCCCTCTGCCC CCGTCCCACGCCTGTACTCCTCCTCCCTCTCCCCCGTCACACCCCTGCAC CCCTCCTCCCTCTCCCCATCCCATCCCTGCACCCCTCCTCCCTCTGCCCC CGTCCCACCCCTAAACCCCTCCTCCCTCTGCCCCACCCCACCCTTGCACC CCTCCTCCCTCTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA20300.hp1 HG03669.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0132 a0001c0002t0001g0133	2	382	0.0052	312	c.270 others(327): Show c.270+283_270+284insATCCCACCCCTGCCCCCCCTCCCATCCCAC CTCTAAACCCCTCCTCCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCC CTGTCCCCCTCTAAACCCCACCTCCCTCTCCCCATCCCACCCCTGCACCC TTCCTCCCTCTGCCCCCGTCCCACGCCTGTACTCCTCCTCCCTCTCCCCC GTCACACCCCTGCACCCCTCCTCCCTCTCCCCATCCCATCCCTGCACCCC TCCTCCCTCTGCCCCCGTCCCACCCCTAAACCCCTCCTCCCTCTGCCCCA CCCCACCCTTGCACCCCTCCTCCCTCTTCCCC	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
NOS3_chr7_150986017_151019588	150995593	C C	CCCCCATC others(305): Show CCCCCATCCCACCCCTGCCCCCCCTCCCATCCCACCTCTAAACCCCTCCT CCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCCCTGTCCCCCTCTAAA CCCCTCCTCCCTCTCCCCATCCCACCCCTGCACCCGTCCTCCCTCTGCCC CCGTCCCACGCCTGTACTCCTCCTCCCTCTCCCCCGTCACACCCCTGCAC CCCTCCTCCCTCTCCCCATCCCATCCCTGCACCCCTCCTCCCTCTGCCCC CGTCCCACCCCTAAACCCCTCCTCCCTCTGCCCCACCCCACCCTTGCACC CCTCCTCCCTCTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	382	0.0026	312	c.270 others(327): Show c.270+283_270+284insATCCCACCCCTGCCCCCCCTCCCATCCCAC CTCTAAACCCCTCCTCCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCC CTGTCCCCCTCTAAACCCCTCCTCCCTCTCCCCATCCCACCCCTGCACCC GTCCTCCCTCTGCCCCCGTCCCACGCCTGTACTCCTCCTCCCTCTCCCCC GTCACACCCCTGCACCCCTCCTCCCTCTCCCCATCCCATCCCTGCACCCC TCCTCCCTCTGCCCCCGTCCCACCCCTAAACCCCTCCTCCCTCTGCCCCA CCCCACCCTTGCACCCCTCCTCCCTCTTCCCC	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
NOS3_chr7_150986017_151019588	150995593	C C	CCCCCATC others(305): Show CCCCCATCCCACCCCTGCCCCCCCTCCCATCCCACCTCTAAACCCCTCCT CCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCCCTGTCCCCCTCTAAA CCCCTCCTCCCTCTCCCCATCCCACCCCTGCACCCTTCCTCCCTCTGCCC CCGTCCCACGCCTGTACTCCTCCTCCCTCTCCCCCGTCACACCCCTGCAC CCCTCCTCCCTCTCCCCATCCCATCCCTGCACCCCTCCTCCCTCTGCCCC CGTCCCACCCCTAAACCCCTCCTCCCTCTGCCCCACCCCACCCTTGCACC CCTCCTCCCTCTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02717.hp1 NA18956.hp1 others(1): Show HG00544.hp2 HG02717.hp1 NA18956.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 others(1): Show a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0002t0001g0134	4	382	0.0105	312	c.270 others(327): Show c.270+283_270+284insATCCCACCCCTGCCCCCCCTCCCATCCCAC CTCTAAACCCCTCCTCCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCC CTGTCCCCCTCTAAACCCCTCCTCCCTCTCCCCATCCCACCCCTGCACCC TTCCTCCCTCTGCCCCCGTCCCACGCCTGTACTCCTCCTCCCTCTCCCCC GTCACACCCCTGCACCCCTCCTCCCTCTCCCCATCCCATCCCTGCACCCC TCCTCCCTCTGCCCCCGTCCCACCCCTAAACCCCTCCTCCCTCTGCCCCA CCCCACCCTTGCACCCCTCCTCCCTCTTCCCC	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
NOS3_chr7_150986017_151019588	150995593	C C	CCCCCATC others(305): Show CCCCCATCCCACCCCTGCCCCCCCTCCCATCCCACCTCTAAACCCCTCCT CCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCCCTGTCCCCCTCTAAA CCCCTCCTCCCTGTCCCCATCCCACCCCTGCACCCTTCCTCCCTCTGCCC CCGTCCCACGCCTGTACTCCTCCTCCCTCTCCCCCGTCACACCCCTGCAC CCCTCCTCCCTCTCCCCATCCCATCCCTGCACCCCTCCTCCCTCTGCCCC CGTCCCACCCCTAAACCCCTCCTCCCTCTGCCCCACCCCACCCTTGCACC CCTCCTCCCTCTT	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0271 a0001c0002t0001g0271	1	382	0.0026	312	c.270 others(327): Show c.270+283_270+284insATCCCACCCCTGCCCCCCCTCCCATCCCAC CTCTAAACCCCTCCTCCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCC CTGTCCCCCTCTAAACCCCTCCTCCCTGTCCCCATCCCACCCCTGCACCC TTCCTCCCTCTGCCCCCGTCCCACGCCTGTACTCCTCCTCCCTCTCCCCC GTCACACCCCTGCACCCCTCCTCCCTCTCCCCATCCCATCCCTGCACCCC TCCTCCCTCTGCCCCCGTCCCACCCCTAAACCCCTCCTCCCTCTGCCCCA CCCCACCCTTGCACCCCTCCTCCCTCTTCCCC	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
NPC2_chr14_74474940_74498305	74475441	T T	TGTATTTA others(305): Show TGTATTTAACATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	410	0.0024	312	c.48 others(323): Show c.4832_*4833insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAATGTTAAATAC	NPC2	ENSG00000119655.11	transcript	ENST00000555619.6	protein_coding		4498		chr14	TogoVar
NPY4R_chr10_46456099_46470958	46461033	C C	CAGAATTC others(305): Show CAGAATTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 NA19030.hp1 HG02723.hp2 NA19030.hp1	a0002 a0002	a0002c0007 a0002c0009 a0002c0007 a0002c0009	a0002c0007t0001 a0002c0009t0001 a0002c0007t0001 a0002c0009t0001	a0002c0007t0001g0010 a0002c0009t0001g0037 a0002c0007t0001g0010 a0002c0009t0001g0037	2	290	0.0069	312	c.47 others(321): Show c.474_*475insAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAGAATTCT	NPY4R	ENSG00000204174.8	transcript	ENST00000374312.5	protein_coding		65		chr10	TogoVar
NT5DC1_chr6_116095853_116254497	116116343	T T	TAAAAATA others(305): Show TAAAAATAACTACTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	300	0.0033	312	c.444 others(327): Show c.444+591_444+592insCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAATAACTACTTTTGG	NT5DC1	ENSG00000178425.14	transcript	ENST00000319550.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr6	TogoVar
NUDCD1_chr8_109235919_109339087	109337068	T T	TCATTTAA others(305): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACC ACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01516.hp2 HG01517.hp2 HG00741.hp2 HG01516.hp2 HG01517.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0170 a0003c0003t0003g0187 a0003c0003t0003g0209 a0003c0003t0003g0170 a0003c0003t0003g0187 a0003c0003t0003g0209	3	360	0.0083	312	c.-30 others(323): Show c.-3059_-3058insCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAACTTTAAATG	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding		2982		chr8	TogoVar
NUDT13_chr10_73105455_73136823	73112353	C C	CAAAAAAA others(305): Show CAAAAAAAAATAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	324	0.0031	312	c.-10 others(329): Show c.-10+1799_-10+1800insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAATAGA	NUDT13	ENSG00000166321.14	transcript	ENST00000357321.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
NXN_chr17_794310_984776	831917	T T	TAAAAGAG others(305): Show TAAAAGAGAGCCTCCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	242	0.0041	312	c.361 others(329): Show c.361-5840_361-5839insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCCAGGAGGCTCTCTTTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	831917	T T	TAAAAGAG others(305): Show TAAAAGAGATCCTCCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02723.hp2 HG02922.hp1 others(3): Show HG01884.hp1 HG02723.hp2 HG02922.hp1 NA18964.hp2 NA18999.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0022 a0001c0001t0002 a0001c0001t0003 a0001c0001t0022	a0001c0001t0002g0083 a0001c0001t0003g0027 a0001c0001t0003g0044 others(3): Show a0001c0001t0002g0083 a0001c0001t0003g0027 a0001c0001t0003g0044 a0001c0001t0003g0175 a0001c0001t0003g0198 a0001c0001t0022g0151	6	242	0.0248	312	c.361 others(329): Show c.361-5840_361-5839insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCCAGGAGGATCTCTTTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	831917	T T	TAAAAGAG others(305): Show TAAAAGAGATCCTCCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	242	0.0041	312	c.361 others(329): Show c.361-5840_361-5839insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCCAGGAGGATCTCTTTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OLFML1_chr11_7480506_7516377	7481892	T T	TAAGAAAT others(305): Show TAAGAAATATGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC GGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0141 a0006c0007t0001g0142 a0006c0007t0001g0141 a0006c0007t0001g0142	2	388	0.0052	312	c.-39 others(323): Show c.-3984_-3983insAAGAAATATGTCGGCCGGGCGCGGTGGCTCACGC CTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAA	OLFML1	ENSG00000183801.8	transcript	ENST00000329293.4	protein_coding		3613		chr11	TogoVar
OR10H1_chr19_15799549_15820664	15817125	C C	CAAAAGAA others(305): Show CAAAAGAATGGAAAAGGAGGGCCGGGCGCGGTGGCTCACACCTGTAATCC CAGCACGTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	398	0.0025	312	c.-23 others(323): Show c.-2349_-2348insTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAACGTGCTGGGATTACAGGTGTGAGCCACC GCGCCCGGCCCTCCTTTTCCATTCTTTT	OR10H1	ENSG00000186723.4	transcript	ENST00000641419.1	protein_coding		1462		chr19	TogoVar
OR10H1_chr19_15799549_15820664	15817125	C C	CAAAAGAA others(305): Show CAAAAGAATGGAAAAGGAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACGTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp1 others(160): Show HG00099.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18971.hp2 NA18972.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18987.hp1 NA18989.hp1 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19060.hp1 NA19064.hp1 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19086.hp2 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0006 a0012 a0014	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0002c0003 a0005c0010 a0006c0009 a0012c0015 a0014c0017	a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 others(27): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0049 a0001c0002t0001 a0001c0004t0004 a0001c0004t0013 a0001c0004t0017 a0001c0004t0022 a0001c0004t0037 a0001c0004t0046 a0001c0004t0054 a0001c0006t0007 a0002c0003t0040 a0002c0003t0045 a0005c0010t0004 a0006c0009t0004 a0012c0015t0009 a0014c0017t0008	a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0011 others(97): Show a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0115 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0164 a0001c0001t0002g0169 a0001c0001t0002g0177 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0008g0022 a0001c0001t0008g0044 a0001c0001t0008g0159 a0001c0001t0009g0109 a0001c0001t0009g0128 a0001c0001t0009g0147 a0001c0001t0009g0160 a0001c0001t0009g0163 a0001c0001t0009g0179 a0001c0001t0009g0180 a0001c0001t0009g0181 a0001c0001t0010g0048 a0001c0001t0010g0134 a0001c0001t0010g0150 a0001c0001t0010g0178 a0001c0001t0010g0182 a0001c0001t0011g0043 a0001c0001t0011g0131 a0001c0001t0011g0158 a0001c0001t0011g0171 a0001c0001t0014g0162 a0001c0001t0014g0175 a0001c0001t0014g0183 a0001c0001t0028g0146 a0001c0001t0029g0137 a0001c0001t0030g0136 a0001c0001t0031g0168 a0001c0001t0032g0173 a0001c0001t0033g0141 a0001c0001t0034g0170 a0001c0001t0035g0165 a0001c0001t0049g0222 a0001c0002t0001g0074 a0001c0004t0004g0002 a0001c0004t0004g0018 a0001c0004t0004g0019 a0001c0004t0004g0020 a0001c0004t0004g0049 a0001c0004t0004g0051 a0001c0004t0004g0111 a0001c0004t0004g0188 a0001c0004t0004g0191 a0001c0004t0004g0194 a0001c0004t0004g0197 a0001c0004t0004g0198 a0001c0004t0004g0200 a0001c0004t0013g0026 a0001c0004t0013g0112 a0001c0004t0017g0196 a0001c0004t0017g0201 a0001c0004t0017g0202 a0001c0004t0022g0110 a0001c0004t0022g0192 a0001c0004t0037g0193 a0001c0004t0046g0190 a0001c0004t0054g0223 a0001c0006t0007g0208 a0002c0003t0040g0133 a0002c0003t0045g0195 a0005c0010t0004g0050 a0005c0010t0004g0189 a0005c0010t0004g0199 a0006c0009t0004g0017 a0012c0015t0009g0135 a0014c0017t0008g0174	163	398	0.4096	312	c.-23 others(323): Show c.-2349_-2348insTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAACGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCCTCCTTTTCCATTCTTTT	OR10H1	ENSG00000186723.4	transcript	ENST00000641419.1	protein_coding		1462		chr19	TogoVar
OR10H1_chr19_15799549_15820664	15817125	C C	CAAAAGAA others(305): Show CAAAAGAATGGAAAAGGAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(68): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00558.hp1 HG00738.hp1 HG01074.hp1 HG01123.hp2 HG01175.hp2 HG01256.hp1 HG01361.hp2 HG01515.hp2 HG01891.hp1 HG01943.hp2 HG01952.hp1 HG01993.hp1 HG02055.hp1 HG02056.hp2 HG02074.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03225.hp2 HG03540.hp1 HG03688.hp2 HG03704.hp2 HG03927.hp2 HG04228.hp2 NA18522.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18945.hp2 NA18947.hp1 NA18949.hp2 NA18955.hp1 NA18962.hp2 NA18963.hp1 NA18967.hp2 NA18985.hp2 NA18990.hp2 NA18992.hp1 NA18994.hp2 NA19003.hp2 NA19004.hp2 NA19030.hp2 NA19064.hp2 NA19068.hp2 NA19081.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0011	a0001c0001 a0001c0004 a0001c0006 others(4): Show a0001c0001 a0001c0004 a0001c0006 a0002c0003 a0002c0011 a0010c0020 a0011c0014	a0001c0001t0006 a0001c0004t0053 a0001c0006t0007 others(9): Show a0001c0001t0006 a0001c0004t0053 a0001c0006t0007 a0002c0003t0003 a0002c0003t0024 a0002c0003t0026 a0002c0003t0027 a0002c0003t0051 a0002c0011t0003 a0002c0011t0025 a0010c0020t0050 a0011c0014t0003	a0001c0001t0006g0047 a0001c0004t0053g0248 a0001c0006t0007g0052 others(45): Show a0001c0001t0006g0047 a0001c0004t0053g0248 a0001c0006t0007g0052 a0001c0006t0007g0053 a0001c0006t0007g0054 a0001c0006t0007g0207 a0001c0006t0007g0210 a0001c0006t0007g0211 a0001c0006t0007g0212 a0001c0006t0007g0213 a0002c0003t0003g0003 a0002c0003t0003g0006 a0002c0003t0003g0015 a0002c0003t0003g0056 a0002c0003t0003g0057 a0002c0003t0003g0217 a0002c0003t0003g0218 a0002c0003t0003g0219 a0002c0003t0003g0225 a0002c0003t0003g0227 a0002c0003t0003g0230 a0002c0003t0003g0232 a0002c0003t0003g0233 a0002c0003t0003g0235 a0002c0003t0003g0236 a0002c0003t0003g0237 a0002c0003t0003g0238 a0002c0003t0003g0239 a0002c0003t0003g0241 a0002c0003t0003g0242 a0002c0003t0003g0243 a0002c0003t0003g0244 a0002c0003t0003g0245 a0002c0003t0003g0246 a0002c0003t0003g0249 a0002c0003t0003g0250 a0002c0003t0003g0251 a0002c0003t0024g0226 a0002c0003t0024g0234 a0002c0003t0026g0220 a0002c0003t0026g0229 a0002c0003t0027g0231 a0002c0003t0027g0240 a0002c0003t0051g0247 a0002c0011t0003g0228 a0002c0011t0025g0058 a0010c0020t0050g0224 a0011c0014t0003g0221	71	398	0.1784	312	c.-23 others(323): Show c.-2349_-2348insTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCCTCCTTTTCCATTCTTTT	OR10H1	ENSG00000186723.4	transcript	ENST00000641419.1	protein_coding		1462		chr19	TogoVar
OR1F1_chr16_3183204_3211556	3198073	G G	GGGAGAAG others(305): Show GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGG GAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGG GAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGAGAGGGAGAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG04204.hp1 HG02886.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0007 a0001c0001t0010	a0001c0001t0007g0106 a0001c0001t0010g0204 a0001c0001t0007g0106 a0001c0001t0010g0204	2	328	0.0061	312	c.-12 others(329): Show c.-12-6157_-12-6156insAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA AGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGG GAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAAGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
OR51A7_chr11_4898783_4914462	4902306	C C	CTAGAATT others(305): Show CTAGAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGC AATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGACTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG03041.hp2 HG01109.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0034 a0001c0001t0017g0054 a0001c0001t0001g0034 a0001c0001t0017g0054	2	452	0.0044	312	c.-15 others(323): Show c.-1570_-1569insTAGAATTTCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGC GGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCC CGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGC CTCGGCCTCCCAAAGTGCTGGGACTACA	OR51A7	ENSG00000176895.9	transcript	ENST00000641490.1	protein_coding		1476		chr11	TogoVar
OR5T1_chr11_56269154_56281819	56274110	T T	TAAGAATT others(305): Show TAAGAATTCAAATGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCG GGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0009 a0001c0002t0004g0009	1	379	0.0026	312	c.-33 others(321): Show c.-334_-333insAAGAATTCAAATGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAA	OR5T1	ENSG00000181698.5	transcript	ENST00000641665.1	protein_coding		43		chr11	TogoVar
ORC5_chr7_104121341_104213013	104124116	A A	AGACAGTA others(305): Show AGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGTGGGGACTA CTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAGTCTGAGGA TGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGTGGAG ACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAGTCTG AGGATGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGT GGGGACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAG TCTGAGGATGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00738.hp1 HG01074.hp1 others(11): Show HG00735.hp2 HG00738.hp1 HG01074.hp1 HG01081.hp2 HG01167.hp2 HG01169.hp1 HG01261.hp1 HG02280.hp2 HG02818.hp2 HG02922.hp2 HG03225.hp1 HG03688.hp1 HG06807.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0277 a0001c0001t0002g0279 others(11): Show a0001c0001t0002g0271 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0315	14	366	0.0383	312	c.27 others(323): Show c.2731_*2732insCGTCATCCTCAGACTGTGGTCTGAAAATATTAAA TGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCATGATACTGCTTT CCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTGGTCTGAAAATAT TAAATGGAAAACACCAGAAATACAGTAGTCTCCACTTACCCATGATACTG CTTTCCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTGGTCTGAAA ATATTAAATGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCATGAT ACTGCTTTCCTTGAGTTCAGTTACTGTC	ORC5	ENSG00000164815.11	transcript	ENST00000297431.9	protein_coding		2224		chr7	TogoVar
ORC5_chr7_104121341_104213013	104124116	A A	AGACAGTA others(305): Show AGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGTGGGGACTA CTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAGTCTGAGGA TGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGTGGGG ACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAGTCTG AGGATGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGT GGGGACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAG TCTGAGGATGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00597.hp2 HG00621.hp2 others(74): Show HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp2 HG01884.hp2 HG01934.hp1 HG01978.hp2 HG01981.hp2 HG02040.hp2 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02165.hp1 HG02257.hp2 HG02273.hp1 HG02300.hp1 HG02523.hp2 HG02572.hp1 HG02630.hp2 HG02717.hp2 HG02809.hp2 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03471.hp1 HG03491.hp1 HG03516.hp1 HG03654.hp2 HG04184.hp1 HG04199.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18949.hp2 NA18953.hp2 NA18959.hp1 NA18967.hp1 NA18972.hp2 NA18979.hp2 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19005.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA19072.hp1 NA19077.hp2 NA19078.hp2 NA19081.hp2 NA19083.hp1 NA19086.hp2 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp2	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0001c0002 a0005c0004 others(1): Show a0001c0001 a0001c0002 a0005c0004 a0008c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0005c0004t0002 a0008c0005t0002	a0001c0001t0001g0005 a0001c0001t0001g0037 a0001c0001t0001g0046 others(66): Show a0001c0001t0001g0005 a0001c0001t0001g0037 a0001c0001t0001g0046 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0148 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0002g0007 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0205 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0274 a0001c0001t0002g0316 a0001c0002t0001g0011 a0001c0002t0001g0095 a0005c0004t0002g0224 a0008c0005t0002g0206	77	366	0.2104	312	c.27 others(323): Show c.2731_*2732insCGTCATCCTCAGACTGTGGTCTGAAAATATTAAA TGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCATGATACTGCTTT CCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTGGTCTGAAAATAT TAAATGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCATGATACTG CTTTCCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTGGTCTGAAA ATATTAAATGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCATGAT ACTGCTTTCCTTGAGTTCAGTTACTGTC	ORC5	ENSG00000164815.11	transcript	ENST00000297431.9	protein_coding		2224		chr7	TogoVar
OSGIN1_chr16_83948240_83971332	83950358	T T	TACATGCA others(305): Show TACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACA CGTACACGCACACATGAGCACATGTGCACACATGCACATACATACTGGCA CACACGTACATGCACACATGAGCACGTGCACACATGCACATACATACTGG CACACACGTACACACACATGCACACATGAGCACATGTGCACACATGCACA TACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATG CACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACACA TGCACATACTGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	350	0.0029	312	c.-30 others(323): Show c.-3045_-3044insACATGCACACATGAGCACATGTGCACACATGCAC ATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACACATGC ACATACATACTGGCACACACGTACATGCACACATGAGCACGTGCACACAT GCACATACATACTGGCACACACGTACACACACATGCACACATGAGCACAT GTGCACACATGCACATACATACTGGCACACACGTACATGCACACATGAGC ACATGTGCACACATGCACATACATACTGGCACACGTACACGCACACATGA GCACATGTGCACACATGCACATACTGGC	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2881		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83950870	C C	CATACACA others(305): Show CATACACACATGAGCACATGTGCACACATGCACATACATACTGGCACACA CGTACATGCACACATGAGCACATGTGCACACATGCACACATACTGGCACA CGTACACACATGCACACATGGGCACATGTGCACACATGCACATACATACT GGCACACGTACACGCACACATGAGCACATGTGCACACATGCACATACATA CTGGCACACACGTACACACATGCACACATGAGCACATGTGCACACATGCA CATACATACTGGCACACACGTACGCACATGTGCACACATGCACATACATA CTGGCACACACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0179 a0001c0003t0002g0179	1	350	0.0029	312	c.-25 others(323): Show c.-2533_-2532insATACACACATGAGCACATGTGCACACATGCACAT ACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGC ACACATACTGGCACACGTACACACATGCACACATGGGCACATGTGCACAC ATGCACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCAC ACATGCACATACATACTGGCACACACGTACACACATGCACACATGAGCAC ATGTGCACACATGCACATACATACTGGCACACACGTACGCACATGTGCAC ACATGCACATACATACTGGCACACACGT	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2369		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83950870	C C	CATACACA others(305): Show CATACACACATGAGCACATGTGCACACATGCACATACATACTGGCACACA CGTACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCA CACGTACACACACGCACACATGGGCACATGTGCACACATGCACATACATA CTGGCACACGTACACGCACACATGAGCACATGTGCACATGCACATACATA CTGGCACACACGTACACACATGCACACATGAGCACATGTGCACACATGCA CATACATACTGGCACACACGTACGCACATGTGCACACATGCACATACATA CTGGCACACACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0212 a0001c0003t0003g0212	1	350	0.0029	312	c.-25 others(323): Show c.-2533_-2532insATACACACATGAGCACATGTGCACACATGCACAT ACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGC ACATACATACTGGCACACGTACACACACGCACACATGGGCACATGTGCAC ACATGCACATACATACTGGCACACGTACACGCACACATGAGCACATGTGC ACATGCACATACATACTGGCACACACGTACACACATGCACACATGAGCAC ATGTGCACACATGCACATACATACTGGCACACACGTACGCACATGTGCAC ACATGCACATACATACTGGCACACACGT	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2369		chr16	TogoVar
PADI2_chr1_17061761_17124451	17114628	T T	TAAGAAAC others(305): Show TAAGAAACGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTG AAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCG GGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0340 a0001c0007t0005g0340	1	356	0.0028	312	c.92+ others(327): Show c.92+4651_92+4652insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCATCGTTTCTT	PADI2	ENSG00000117115.13	transcript	ENST00000375486.9	protein_coding	1/15			chr1	TogoVar
PAK2_chr3_196734857_196837647	196811321	T T	TCCTTCCC others(305): Show TCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTC CCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCC CTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCC TTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCT CCCTTCCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCT CCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTC CCTTCCTTCCCTC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0017 a0001c0001t0022g0017	1	178	0.0056	312	c.773 others(327): Show c.773+676_773+677insCCCTTCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCTT CCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTC CCCTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCC CTTCCCTCCCTCCCTTCCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCC CTCCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCT TCCCTTCCCTCCCTTCCTTCCCTCCCTTCCCT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PARD3_chr10_34104561_34820296	34282095	T T	TAAAATAC others(305): Show TAAAATACAAGTGCCAGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02922.hp1 HG02280.hp2 HG02922.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0003 a0001c0003t0001 a0001c0004t0003	a0001c0003t0001g0063 a0001c0004t0003g0064 a0001c0003t0001g0063 a0001c0004t0003g0064	2	100	0.0200	312	c.317 others(331): Show c.3176+2039_3176+2040insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCTGCCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCAGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CTTGAGCCACCGCGCCCGGCCTGGCACTTGTATTTT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	21/24			chr10	TogoVar
PARP14_chr3_122675839_122735840	122726893	T T	TAATTTTA others(305): Show TAATTTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0226 a0001c0001t0003g0226	1	366	0.0027	312	c.494 others(329): Show c.4942-912_4942-911insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAATTTTA	PARP14	ENSG00000173193.15	transcript	ENST00000474629.7	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCBP3_chr21_45638725_45947450	45909792	C C	CCCCCCCC others(305): Show CCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGA TACGGACCCCCTCCACCCACTGCCCAGATACGGACCTGGCCACCCACTGC CCAGATACGGACCCGGCCACCCACTGCCCAGATACGGACCCCCCCCCCCC ACCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCCAGATACGGACC CCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGAT ACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCGCCCACT GCCCAGATACGGA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0245	1	292	0.0034	312	c.471 others(327): Show c.471+313_471+314insACCCACTGCCCAGATACGGACCCGGCCCAC CCACTGCCCAGATACGGACCCCCTCCACCCACTGCCCAGATACGGACCTG GCCACCCACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGATACGGA CCCCCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCC CAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACC CACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCC CCCCCGCCCACTGCCCAGATACGGACCCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar

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