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
ZNF30_chr19_34921903_34950168	34923077	A A	ATATATAA others(312): Show ATATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTAT GTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAA CTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATA TAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTAT ATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGT TATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACA TAACTTGTTATGTTATATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp1 NA19007.hp1 NA19010.hp2 others(1): Show NA18986.hp1 NA19007.hp1 NA19010.hp2 NA19063.hp1	a0003 a0007 a0003 a0007	a0003c0003 a0007c0007 a0003c0003 a0007c0007	a0003c0003t0002 a0007c0007t0002 a0003c0003t0002 a0007c0007t0002	a0003c0003t0002g0002 a0003c0003t0002g0082 a0007c0007t0002g0079 others(1): Show a0003c0003t0002g0002 a0003c0003t0002g0082 a0007c0007t0002g0079 a0007c0007t0002g0084	4	412	0.0097	319	c.-42 others(330): Show c.-4204_-4203insTATATAACATAACTTGTTATGTTATATTGTATAT AACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATA TTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTT ATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACAT AACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTA TATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTT ATATTGTATATAACATAACTTGTTATGTTATATTG	ZNF30	ENSG00000168661.15	transcript	ENST00000601142.2	protein_coding		3825		chr19	TogoVar
ZNF486_chr19_20162214_20205488	20198932	T T	TAAAAAAA others(312): Show TAAAAAAAATTATACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0027 a0002c0003t0027	a0002c0003t0027g0006 a0002c0003t0027g0006	1	382	0.0026	319	c.84 others(328): Show c.844_*845insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAATTATAC	ZNF486	ENSG00000256229.8	transcript	ENST00000335117.9	protein_coding	4/4	845	INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF737_chr19_20532992_20570781	20563166	A A	AAGTTTCC others(312): Show AAGTTTCCTTTCATCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCTTGCCTCAGCCTCCCGAG CAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGCATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0178 a0002c0001t0001g0178	1	336	0.0030	319	c.3+2 others(332): Show c.3+2471_3+2472insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTG AGGCAAGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAGATGAAAGGAAACT	ZNF737	ENSG00000237440.9	transcript	ENST00000427401.9	protein_coding	1/3			chr19	TogoVar
ZNF804B_chr7_88754700_89343528	88955149	T T	TGGTAAAT others(312): Show TGGTAAATACTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTGGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACTGTTTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02818.hp1 HG02615.hp1 HG02818.hp1	a0002 a0012 a0002 a0012	a0002c0002 a0012c0018 a0002c0002 a0012c0018	a0002c0002t0013 a0012c0018t0008 a0002c0002t0013 a0012c0018t0008	a0002c0002t0013g0058 a0012c0018t0008g0115 a0002c0002t0013g0058 a0012c0018t0008g0115	2	166	0.0121	319	c.108 others(340): Show c.108+195079_108+195080insTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTTTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCCGGTAAATACTTTTT	ZNF804B	ENSG00000182348.7	transcript	ENST00000333190.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF804B_chr7_88754700_89343528	89240090	T T	TACTACTA others(312): Show TACTACTAGTGTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCTGGCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0008 a0008	a0008c0027 a0008c0027	a0008c0027t0007 a0008c0027t0007	a0008c0027t0007g0129 a0008c0027t0007g0129	1	166	0.0060	319	c.249 others(338): Show c.249+21804_249+21805insGTTTTGTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCACTACTAGT	ZNF804B	ENSG00000182348.7	transcript	ENST00000333190.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF827_chr4_145752627_145943823	145892670	C C	CCAAAGGC others(312): Show CCAAAGGCCATCCAACAGGGCCGGGCGCGGTGGCTCGCGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAA TTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAACAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01515.hp1 HG01261.hp2 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0087 a0001c0001t0001g0011 a0001c0001t0001g0087	2	254	0.0079	319	c.109 others(336): Show c.1094-256_1094-255insTTTTTTGTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGCAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGC ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGCGAGCCACCGCGCCCGGCCCTGTTGGATGGCCTTTG	ZNF827	ENSG00000151612.18	transcript	ENST00000508784.6	protein_coding	2/14			chr4	TogoVar
AASDH_chr4_56333290_56392491	56392004	T T	TTTTTTTT others(313): Show TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCAGGTATAAAGTTCTTAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0317 a0001c0005t0001g0317	1	382	0.0026	320	c.-46 others(331): Show c.-4686_-4685insTTTAAGAACTTTATACCTGGCCGGGCGCGGTGGC TCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGA GGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding		4514		chr4	TogoVar
AASDH_chr4_56333290_56392491	56392004	T T	TTTTTTTT others(313): Show TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCAGGTATAAAGTTCTTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02027.hp2 HG02056.hp1 others(5): Show HG01109.hp1 HG02027.hp2 HG02056.hp1 HG02129.hp1 HG02647.hp1 HG03688.hp1 NA19077.hp1 NA19083.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0011 a0001c0005t0001g0028 a0001c0005t0001g0051 others(5): Show a0001c0005t0001g0011 a0001c0005t0001g0028 a0001c0005t0001g0051 a0001c0005t0001g0299 a0001c0005t0001g0308 a0001c0005t0001g0313 a0001c0005t0001g0321 a0001c0005t0001g0322	8	382	0.0209	320	c.-46 others(331): Show c.-4686_-4685insTTAAGAACTTTATACCTGGCCGGGCGCGGTGGCT CACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAG GTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding		4514		chr4	TogoVar
ABHD18_chr4_127960406_128044953	128037836	T T	TCTTAAAT others(313): Show TCTTAAATGGGGTTTATTTTTTTATTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0053 a0002c0002t0053	a0002c0002t0053g0330 a0002c0002t0053g0330	1	344	0.0029	320	c.20 others(331): Show c.2039_*2040insTTTTTTATTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTTAAATGGGGTTTAT	ABHD18	ENSG00000164074.17	transcript	ENST00000645843.2	protein_coding	13/13	2040	INFO_REALIGN_3_PRIME	chr4	TogoVar
ABHD18_chr4_127960406_128044953	128037836	T T	TCTTAAAT others(313): Show TCTTAAATGGGGTTTATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00544.hp2 others(48): Show HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp2 HG00738.hp2 HG01081.hp2 HG01358.hp2 HG02056.hp2 HG02132.hp1 HG02273.hp2 HG02300.hp1 NA18942.hp2 NA18943.hp2 NA18947.hp2 NA18951.hp2 NA18955.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp2 NA18974.hp2 NA18977.hp2 NA18978.hp2 NA18981.hp2 NA18983.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp2 NA18994.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19054.hp2 NA19056.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp1 NA19086.hp2 NA19090.hp1 NA19091.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0007 a0002c0002 a0006c0007	a0002c0002t0001 a0002c0002t0014 a0002c0002t0029 others(9): Show a0002c0002t0001 a0002c0002t0014 a0002c0002t0029 a0002c0002t0030 a0002c0002t0032 a0002c0002t0033 a0002c0002t0050 a0002c0002t0052 a0002c0002t0055 a0002c0002t0056 a0002c0002t0093 a0006c0007t0001	a0002c0002t0001g0270 a0002c0002t0001g0272 a0002c0002t0001g0276 others(48): Show a0002c0002t0001g0270 a0002c0002t0001g0272 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0286 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0295 a0002c0002t0001g0297 a0002c0002t0001g0299 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0305 a0002c0002t0001g0307 a0002c0002t0001g0310 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0319 a0002c0002t0001g0320 a0002c0002t0001g0322 a0002c0002t0001g0324 a0002c0002t0001g0326 a0002c0002t0001g0328 a0002c0002t0001g0329 a0002c0002t0001g0332 a0002c0002t0001g0333 a0002c0002t0014g0271 a0002c0002t0014g0303 a0002c0002t0014g0309 a0002c0002t0014g0311 a0002c0002t0014g0321 a0002c0002t0029g0292 a0002c0002t0029g0306 a0002c0002t0030g0273 a0002c0002t0030g0331 a0002c0002t0032g0285 a0002c0002t0032g0293 a0002c0002t0033g0323 a0002c0002t0033g0325 a0002c0002t0050g0274 a0002c0002t0052g0327 a0002c0002t0055g0269 a0002c0002t0056g0288 a0002c0002t0093g0002 a0006c0007t0001g0287	51	344	0.1483	320	c.20 others(331): Show c.2039_*2040insTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTTAAATGGGGTTTAT	ABHD18	ENSG00000164074.17	transcript	ENST00000645843.2	protein_coding	13/13	2040	INFO_REALIGN_3_PRIME	chr4	TogoVar
ACACA_chr17_37079992_37411836	37136053	T T	TAAAAATT others(313): Show TAAAAATTTTAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGCCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03225.hp1 HG03139.hp2 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0120 a0001c0004t0005g0277 a0001c0004t0005g0120 a0001c0004t0005g0277	2	299	0.0067	320	c.568 others(339): Show c.5680-5836_5680-5835insTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCGTTTTAGCCGGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTAAAATTTTT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	45/55			chr17	TogoVar
ACSS2_chr20_34871612_34932959	34885959	T T	TAGGCAAT others(313): Show TAGGCAATTACTATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCACCACCTCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0146 a0002c0004t0001g0146	1	312	0.0032	320	c.374 others(337): Show c.374+2985_374+2986insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCT CACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCACCACCTCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCAGGCAATTACTATTT	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
ACTG2_chr2_73888008_73924865	73898352	T T	TGCACCTT others(313): Show TGCACCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0028 a0001c0001t0005g0028	1	416	0.0024	320	c.-36 others(337): Show c.-36-2913_-36-2912insTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCGCACCTTTTCT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADAM2_chr8_39738735_39843227	39822506	T T	TTGCATTG others(313): Show TTGCATTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	329	0.0030	320	c.268 others(335): Show c.268-845_268-844insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAATGCA	ADAM2	ENSG00000104755.16	transcript	ENST00000265708.9	protein_coding	4/20			chr8	TogoVar
ADAMTS17_chr15_99966437_100346975	100272595	T T	TAAGATTT others(313): Show TAAGATTTAGGGTTTTCTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTATAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01257.hp1 HG00735.hp2 HG01257.hp1	a0002 a0002	a0002c0001 a0002c0064 a0002c0001 a0002c0064	a0002c0001t0055 a0002c0064t0005 a0002c0001t0055 a0002c0064t0005	a0002c0001t0055g0087 a0002c0064t0005g0150 a0002c0001t0055g0087 a0002c0064t0005g0150	2	228	0.0088	320	c.789 others(337): Show c.789+8633_789+8634insTTTTTTTTTTTTTTTTTTTTTTGAGATG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTATAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCTGGCCAGAAAACCCTAAATCTT	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	4/21			chr15	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(313): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAGGGGGAGGAGGGGGGGGAGGAGGGGAGGGG GGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGA GGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGG AAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGA GGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGG GAGGAGGGGAGGGGGGAGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03130.hp2 NA20300.hp1 HG02976.hp2 HG03130.hp2 NA20300.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0082 a0002c0006t0002g0085 a0002c0006t0002g0088 a0002c0006t0002g0082 a0002c0006t0002g0085 a0002c0006t0002g0088	3	352	0.0085	320	c.51 others(331): Show c.5165_*5166insCTCCTCCCCCCTCCCCTCCTCCCTCCTCCCCCGT CCCCTCCTCCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTC CTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTCCCTCCTCCCCCT CCCCTCCTCCTTCCCTCCTCCCCCTCCCCTCCTCCCCTCTCCCCCTCCCC CCTCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCCT CCCCCCCCTCCTCCCCCTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCC CTCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADGRA1_chr10_133082924_133136675	133112467	G G	GGGTCTGC others(313): Show GGGTCTGCGGGCCACGTCGGTTATTTGGGGTCTGTAAGCAGTGTTGGTTA TTTGGGGTCTGCAGGCCGCGTCGGTTATTTGAGGTCTGTGGGCCGCATCG GTTGAGGTCTGCGGGCCGTGTCGGTTATTTGGGGTCTACGGGCTACGTTG GTTATTTGGGGTCTACGGGCCACGTCCGTTATTTGGGGTCTGTGGGCCAT GTCGGTTATTTGGGGTCTACGGGCCACGTCAGTTATTTGGGGTCTGCAGG CCGCGTCGGTTATTTGAGGTCTGTGGGCCGTGTCGGTTATTTGAGGTCTG TGGGCCGTGTCGGTTATTTGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp1 HG03225.hp1 HG01884.hp1 HG02280.hp1 HG03225.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0008c0013 a0001c0001 a0001c0003 a0008c0013	a0001c0001t0011 a0001c0003t0067 a0008c0013t0065 a0001c0001t0011 a0001c0003t0067 a0008c0013t0065	a0001c0001t0011g0261 a0001c0003t0067g0258 a0008c0013t0065g0257 a0001c0001t0011g0261 a0001c0003t0067g0258 a0008c0013t0065g0257	3	368	0.0082	320	c.401 others(337): Show c.401+9637_401+9638insACGTCGGTTATTTGGGGTCTGTAAGCAG TGTTGGTTATTTGGGGTCTGCAGGCCGCGTCGGTTATTTGAGGTCTGTGG GCCGCATCGGTTGAGGTCTGCGGGCCGTGTCGGTTATTTGGGGTCTACGG GCTACGTTGGTTATTTGGGGTCTACGGGCCACGTCCGTTATTTGGGGTCT GTGGGCCATGTCGGTTATTTGGGGTCTACGGGCCACGTCAGTTATTTGGG GTCTGCAGGCCGCGTCGGTTATTTGAGGTCTGTGGGCCGTGTCGGTTATT TGAGGTCTGTGGGCCGTGTCGGTTATTTGAGGTCTGCGGGCC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133112467	G G	GGGTCTGC others(313): Show GGGTCTGCGGGCCACGTCGGTTATTTGGGGTCTGTAAGCAGTGTTGGTTA TTTGGGGTCTGCAGGCCGCGTCGGTTATTTGAGGTCTGTGGGCCGCATCG GTTGAGGTCTGCGGGCCGTGTCGGTTATTTGGGGTCTACGGGCTACGTTG GTTATTTGGGGTCTACGGGCCGCGTCCGTTACTTGGGGTCTGTGGGCCAT GTCGGTTATTTGGGGTCTACGGGCCACATCAATTATTTGGGGTCTGCAGG CCGCGTCGGTTATTTGAGGTCTGTGGGCCGTGTCGGTTATTTGAGGTCTG TGGGCCGTGTCGGTTATTTGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0022 a0001c0002t0008g0022	1	368	0.0027	320	c.401 others(337): Show c.401+9637_401+9638insACGTCGGTTATTTGGGGTCTGTAAGCAG TGTTGGTTATTTGGGGTCTGCAGGCCGCGTCGGTTATTTGAGGTCTGTGG GCCGCATCGGTTGAGGTCTGCGGGCCGTGTCGGTTATTTGGGGTCTACGG GCTACGTTGGTTATTTGGGGTCTACGGGCCGCGTCCGTTACTTGGGGTCT GTGGGCCATGTCGGTTATTTGGGGTCTACGGGCCACATCAATTATTTGGG GTCTGCAGGCCGCGTCGGTTATTTGAGGTCTGTGGGCCGTGTCGGTTATT TGAGGTCTGTGGGCCGTGTCGGTTATTTGAGGTCTGCGGGCC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133112467	G G	GGGTCTGC others(313): Show GGGTCTGCGGGCCACGTCGGTTATTTGGGGTCTGTAAGCAGTGTTGGTTA TTTGGGGTCTGCAGGCCGCGTCGGTTATTTGAGGTCTGTGGGCCGCATCG GTTGAGGTCTGCGGGCCGTGTCGGTTATTTGGGGTCTACGGGCTACGTTG GTTATTTGGGGTCTACGGGCCGCGTCCGTTATTTGGGGTCTGTGGGCCAT GTCGGTTATTTGGGGTCTACGGGCCACATCAATTATTTGGGGTCTGCAGG CCGCGTCGGTTATTTGAGGTCTGTGGGCCGTGTCGGTTATTTGAGGTCTG TGGGCCGTGTCGGTTATTTGA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0019 a0001c0002t0008g0019	1	368	0.0027	320	c.401 others(337): Show c.401+9637_401+9638insACGTCGGTTATTTGGGGTCTGTAAGCAG TGTTGGTTATTTGGGGTCTGCAGGCCGCGTCGGTTATTTGAGGTCTGTGG GCCGCATCGGTTGAGGTCTGCGGGCCGTGTCGGTTATTTGGGGTCTACGG GCTACGTTGGTTATTTGGGGTCTACGGGCCGCGTCCGTTATTTGGGGTCT GTGGGCCATGTCGGTTATTTGGGGTCTACGGGCCACATCAATTATTTGGG GTCTGCAGGCCGCGTCGGTTATTTGAGGTCTGTGGGCCGTGTCGGTTATT TGAGGTCTGTGGGCCGTGTCGGTTATTTGAGGTCTGCGGGCC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133112467	G G	GGGTCTGC others(313): Show GGGTCTGCGGGCCACGTCGGTTATTTGGGGTCTGTAAGCAGTGTTGGTTA TTTGGGGTCTGCAGGCCGCGTCGGTTATTTGAGGTCTGTGGGCCGCATCG GTTGAGGTCTGCGGGCCGTGTCGGTTATTTGGGGTCTACGGGCTACGTTG GTTATTTGGGGTCTACGGGCCGCGTCCGTTATTTGGGGTCTGTGGGCCAT GTCGGTTATTTGGGGTCTACGGGCCACATCAGTTATTTGGGGTCTGCAGG CCGCGTCGGTTATTTGAGGTCTGTGGGCCGTGTCGGTTATTTGAGGTCTG TGGGCCGTGTCGGTTATTTGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02559.hp1 HG02622.hp1 others(6): Show HG00741.hp1 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02723.hp2 HG03041.hp2 HG03098.hp1 HG03471.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0027 a0001c0002 a0001c0027	a0001c0002t0008 a0001c0027t0038 a0001c0002t0008 a0001c0027t0038	a0001c0002t0008g0015 a0001c0002t0008g0016 a0001c0002t0008g0017 others(6): Show a0001c0002t0008g0015 a0001c0002t0008g0016 a0001c0002t0008g0017 a0001c0002t0008g0018 a0001c0002t0008g0020 a0001c0002t0008g0021 a0001c0002t0008g0023 a0001c0002t0008g0024 a0001c0027t0038g0014	9	368	0.0245	320	c.401 others(337): Show c.401+9637_401+9638insACGTCGGTTATTTGGGGTCTGTAAGCAG TGTTGGTTATTTGGGGTCTGCAGGCCGCGTCGGTTATTTGAGGTCTGTGG GCCGCATCGGTTGAGGTCTGCGGGCCGTGTCGGTTATTTGGGGTCTACGG GCTACGTTGGTTATTTGGGGTCTACGGGCCGCGTCCGTTATTTGGGGTCT GTGGGCCATGTCGGTTATTTGGGGTCTACGGGCCACATCAGTTATTTGGG GTCTGCAGGCCGCGTCGGTTATTTGAGGTCTGTGGGCCGTGTCGGTTATT TGAGGTCTGTGGGCCGTGTCGGTTATTTGAGGTCTGCGGGCC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133112563	A A	ATCGGTTG others(313): Show ATCGGTTGAGGTCTGCGGGCCGTGTCGGTTATTTGGGGTCTACGGGCTAC GTTGGTTATTTGGGGTCTACGGGCCGCGTCCGTTATTTGGGGTCTGTGGG CCATGTCGGTTATTTGGGGTCTACGGGCCACGTCAGTTATTTGGGGTCTG CAGGCCGCGTCGGTTATTTGAGGTCTGTGGGCCGTGTCGGTTATTTGAGG TCTGTGGGCCGTGTCGGTTATTTGAGGTCTGCGGGCCGCGTCAGTTATTT GGGGTCTGTAAGCAGTGTTGGTTATTTGGGGTCTGCAGGCCGCGTCGGTT ATTTGAGGTCTGTGGGCCGCG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0206 a0001c0001t0045g0206	1	368	0.0027	320	c.401 others(337): Show c.401+9727_401+9728insGAGGTCTGCGGGCCGTGTCGGTTATTTG GGGTCTACGGGCTACGTTGGTTATTTGGGGTCTACGGGCCGCGTCCGTTA TTTGGGGTCTGTGGGCCATGTCGGTTATTTGGGGTCTACGGGCCACGTCA GTTATTTGGGGTCTGCAGGCCGCGTCGGTTATTTGAGGTCTGTGGGCCGT GTCGGTTATTTGAGGTCTGTGGGCCGTGTCGGTTATTTGAGGTCTGCGGG CCGCGTCAGTTATTTGGGGTCTGTAAGCAGTGTTGGTTATTTGGGGTCTG CAGGCCGCGTCGGTTATTTGAGGTCTGTGGGCCGCGTCGGTT	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133135683	G G	GGGGGTGT others(313): Show GGGGGTGTCTGGTCTCTGGGTCCCTGTGGTGGGGGGGGTCTCTGGGTCCC TGTTGGGGGGGTCTGGTCTCTGGGTCCCTGTAGGGGTTCTGGTCTCTGGG TCCCTGTGGGCGGGTCTGGTCTCTGGGTCCCTTTGGGGGGGTCCTGGTCT CTGGGTCCCTGTGGGGGCGGCTGGTCTCTGGGTCCCTGTGGGGGGTTCTG GTCTCTGGGTCCCTGTGGGGGGCGGCTGATCTCTGGGTCCCTGTGGGGGG GTCTGGTCTCTGGGTCCCTGTTGGGGGGTCTGGTCTCTGGGTCTCTGTGG GGGTTCTGGTCTCTGGGTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0204	1	368	0.0027	320	c.61 others(331): Show c.6172_*6173insGGGGTGTCTGGTCTCTGGGTCCCTGTGGTGGGGG GGGTCTCTGGGTCCCTGTTGGGGGGGTCTGGTCTCTGGGTCCCTGTAGGG GTTCTGGTCTCTGGGTCCCTGTGGGCGGGTCTGGTCTCTGGGTCCCTTTG GGGGGGTCCTGGTCTCTGGGTCCCTGTGGGGGCGGCTGGTCTCTGGGTCC CTGTGGGGGGTTCTGGTCTCTGGGTCCCTGTGGGGGGCGGCTGATCTCTG GGTCCCTGTGGGGGGGTCTGGTCTCTGGGTCCCTGTTGGGGGGTCTGGTC TCTGGGTCTCTGTGGGGGTTCTGGTCTCTGGGTCCC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding		4009		chr10	TogoVar
ADGRA3_chr4_22382376_22521066	22514245	C C	CAAAGAAT others(313): Show CAAAGAATCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0266 a0001c0002t0001g0266	1	290	0.0035	320	c.257 others(337): Show c.257+1282_257+1283insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGATTCTTT	ADGRA3	ENSG00000152990.14	transcript	ENST00000334304.10	protein_coding	1/18			chr4	TogoVar
ADGRL3_chr4_61195326_62083335	61647701	T T	TAAGAATG others(313): Show TAAGAATGCAAAAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0028 a0001c0001t0008g0028	1	58	0.0172	320	c.474 others(339): Show c.474-29110_474-29109insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATGCAAAAATT	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	5/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
AFF2_chrX_148495617_149005663	148581072	C C	CACACATA others(313): Show CACACATATATACACATATGTGTATATATGTATATATACACACATATATA CACATATGTGTATATATGTATATATACACACATATATACACATATGTGTA TATATGTATATATACACACATATATACACATATGTGTATATATGTATATA TACACATATATACACATATGTGTATATGTATATGTACACATATATACACA TATGTGTATATGTATATGTACACATATATACACATATGTGTATATGTATA TGTACACATATATACACATATGTGTATATGTATATGTACACATATATACA CATATGTGTATATGTATATGT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0149 a0001c0002t0029g0149	1	169	0.0059	320	c.48- others(337): Show c.48-70914_48-70913insCATATGTGTATATATGTATATATACACA CATATATACACATATGTGTATATATGTATATATACACACATATATACACA TATGTGTATATATGTATATATACACACATATATACACATATGTGTATATA TGTATATATACACATATATACACATATGTGTATATGTATATGTACACATA TATACACATATGTGTATATGTATATGTACACATATATACACATATGTGTA TATGTATATGTACACATATATACACATATGTGTATATGTATATGTACACA TATATACACATATGTGTATATGTATATGTACACATATATACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF3_chr2_99540419_100147590	99820748	A A	AGGTTTTT others(313): Show AGGTTTTTAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	100	0.0100	320	c.921 others(339): Show c.921+16728_921+16729insAGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTAAAAACC	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	8/24			chr2	TogoVar
AGPS_chr2_177387773_177548834	177453985	C C	CCCCCTCT others(313): Show CCCCCTCTGGCTACTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03927.hp1 HG02630.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0172 a0001c0001t0001g0103 a0001c0001t0001g0172	2	258	0.0078	320	c.871 others(337): Show c.871-7891_871-7890insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCCCTCTGGCTACTTTT	AGPS	ENSG00000018510.18	transcript	ENST00000264167.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
AIDA_chr1_222663013_222717491	222697341	T T	TAAAAAAG others(313): Show TAAAAAAGGAGTGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	368	0.0027	320	c.181 others(337): Show c.181-3079_181-3078insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCTCCACTCCTTTTTT	AIDA	ENSG00000186063.13	transcript	ENST00000340020.11	protein_coding	2/9			chr1	TogoVar
AK5_chr1_77277019_77564966	77299296	T T	TTGCCCAT others(313): Show TTGCCCATTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01346.hp1 HG01496.hp2 others(15): Show HG00621.hp2 HG01346.hp1 HG01496.hp2 HG01517.hp2 HG01978.hp1 HG03490.hp1 HG03704.hp1 NA18951.hp2 NA18960.hp2 NA18966.hp1 NA18973.hp1 NA18984.hp1 NA19000.hp2 NA19012.hp2 NA19079.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0001 a0001c0003t0004 a0001c0003t0021 others(4): Show a0001c0003t0001 a0001c0003t0004 a0001c0003t0021 a0002c0004t0002 a0002c0004t0010 a0002c0004t0017 a0002c0004t0018	a0001c0003t0001g0246 a0001c0003t0001g0250 a0001c0003t0001g0260 others(15): Show a0001c0003t0001g0246 a0001c0003t0001g0250 a0001c0003t0001g0260 a0001c0003t0001g0261 a0001c0003t0001g0262 a0001c0003t0004g0236 a0001c0003t0004g0248 a0001c0003t0004g0253 a0001c0003t0021g0237 a0002c0004t0002g0238 a0002c0004t0002g0241 a0002c0004t0002g0245 a0002c0004t0002g0247 a0002c0004t0002g0249 a0002c0004t0002g0252 a0002c0004t0010g0254 a0002c0004t0017g0200 a0002c0004t0018g0251	18	284	0.0634	320	c.699 others(337): Show c.699+1362_699+1363insTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCTGCCCATTTTTCT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AKAP12_chr6_151234967_151363559	151321515	T T	TTATTTCT others(313): Show TTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0123 a0002c0001t0002g0123	1	316	0.0032	320	c.319 others(339): Show c.319+15620_319+15621insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTATTTCTT	AKAP12	ENSG00000131016.17	transcript	ENST00000402676.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
ALG13_chrX_111676170_111765649	111721071	A A	AAGAAGGA others(313): Show AAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAA TTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGA AGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCT TCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGA AGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCT TCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAA ACTTAATTCTTCCTTCTTCAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp1 HG02886.hp1 others(4): Show HG01891.hp1 HG02257.hp1 HG02886.hp1 HG03225.hp1 HG03486.hp2 NA18522.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0002c0005t0001	a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 others(4): Show a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0066 a0001c0002t0001g0035 a0002c0003t0001g0050 a0002c0005t0001g0077	7	191	0.0367	320	c.132 others(336): Show c.1327-361_1327-42dupAACTTAATTCTTCCTTCTTCATAGAAGGA AGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCT TCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAA ACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTT CATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTT AATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATA GAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGA	ALG13	ENSG00000101901.13	transcript	ENST00000394780.8	protein_coding	11/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
ALKBH8_chr11_107497727_107570735	107529672	T T	TTTTTGTA others(313): Show TTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0274 a0002c0004t0001g0274	1	400	0.0025	320	c.878 others(337): Show c.878+2627_878+2628insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACAAAA	ALKBH8	ENSG00000137760.15	transcript	ENST00000428149.7	protein_coding	8/11			chr11	TogoVar
ALK_chr2_29187774_29926586	29583551	T T	TCTGGACT others(313): Show TCTGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCTTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0009 a0002c0014t0001g0009	1	80	0.0125	320	c.953 others(339): Show c.953-51436_953-51435insGAAGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTCCAG	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	3/28			chr2	TogoVar
ALPK3_chr15_84812356_84878479	84854229	T T	TCTACTAA others(313): Show TCTACTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02071.hp2 HG02083.hp1 others(19): Show HG00673.hp2 HG02071.hp2 HG02083.hp1 HG02135.hp2 HG02165.hp2 HG02258.hp1 HG02630.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03492.hp1 HG03831.hp2 NA18747.hp2 NA18946.hp2 NA18949.hp2 NA18954.hp2 NA18966.hp2 NA18999.hp2 NA19012.hp1 NA19084.hp1 NA19084.hp2	a0001 a0013 a0015 others(1): Show a0001 a0013 a0015 a0020	a0001c0001 a0001c0004 a0013c0023 others(2): Show a0001c0001 a0001c0004 a0013c0023 a0015c0020 a0020c0032	a0001c0001t0005 a0001c0001t0026 a0001c0004t0007 others(4): Show a0001c0001t0005 a0001c0001t0026 a0001c0004t0007 a0001c0004t0033 a0013c0023t0005 a0015c0020t0030 a0020c0032t0005	a0001c0001t0005g0108 a0001c0001t0005g0127 a0001c0001t0005g0130 others(19): Show a0001c0001t0005g0108 a0001c0001t0005g0127 a0001c0001t0005g0130 a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0005g0175 a0001c0001t0005g0176 a0001c0001t0005g0179 a0001c0001t0005g0202 a0001c0001t0005g0221 a0001c0001t0005g0238 a0001c0001t0026g0150 a0001c0004t0007g0279 a0001c0004t0007g0281 a0001c0004t0033g0278 a0013c0023t0005g0195 a0013c0023t0005g0196 a0015c0020t0030g0147 a0020c0032t0005g0207	22	340	0.0647	320	c.165 others(339): Show c.1654-2151_1654-2150insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCACTACTAATTTTT	ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
ALPL_chr1_21504423_21583410	21527015	G G	GTTCTTTT others(313): Show GTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0146 a0001c0001t0003g0146	1	370	0.0027	320	c.-10 others(341): Show c.-105+17529_-105+17530insTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT	ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ALS2_chr2_201695267_201785933	201766722	G G	GAAAATGT others(313): Show GAAAATGTGGCACATAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00597.hp2 others(41): Show HG00423.hp1 HG00544.hp1 HG00597.hp2 HG01071.hp2 HG01168.hp1 HG01975.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02135.hp1 HG02155.hp1 HG02165.hp1 HG02683.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03834.hp1 HG04115.hp2 NA18940.hp1 NA18941.hp1 NA18944.hp2 NA18945.hp1 NA18949.hp1 NA18952.hp2 NA18954.hp1 NA18959.hp1 NA18959.hp2 NA18971.hp1 NA18975.hp1 NA18978.hp2 NA18980.hp1 NA18991.hp2 NA18994.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19056.hp2 NA19065.hp2 NA19067.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp2 NA19091.hp2	a0001 a0005 a0009 a0001 a0005 a0009	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0005c0012 a0009c0015	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0005c0012t0002 a0009c0015t0002	a0001c0001t0001g0207 a0001c0002t0001g0096 a0001c0002t0001g0224 others(38): Show a0001c0001t0001g0207 a0001c0002t0001g0096 a0001c0002t0001g0224 a0001c0003t0001g0173 a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 a0001c0003t0002g0159 a0001c0003t0002g0161 a0001c0003t0002g0164 a0001c0003t0002g0167 a0001c0003t0002g0168 a0001c0003t0002g0169 a0001c0003t0002g0170 a0001c0003t0002g0171 a0001c0003t0002g0172 a0001c0003t0002g0174 a0001c0003t0002g0175 a0001c0003t0002g0176 a0001c0003t0002g0177 a0001c0003t0002g0178 a0001c0003t0002g0179 a0001c0003t0002g0180 a0001c0003t0002g0181 a0001c0003t0002g0182 a0001c0003t0002g0183 a0001c0003t0002g0187 a0001c0003t0002g0189 a0001c0003t0002g0190 a0001c0003t0002g0192 a0001c0003t0002g0194 a0001c0003t0002g0195 a0001c0003t0002g0196 a0001c0003t0002g0197 a0001c0003t0002g0198 a0001c0003t0002g0199 a0001c0003t0002g0200 a0001c0003t0002g0201 a0005c0012t0002g0160 a0005c0012t0002g0163 a0009c0015t0002g0188	44	354	0.1243	320	c.175 others(335): Show c.175+506_175+507insTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCACCCGGCCTATGTGCCACATTTT	ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	3/33			chr2	TogoVar
ANKRD33B_chr5_10559070_10662816	10634868	T T	TAAAGAAG others(313): Show TAAAGAAGAAAGGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAAC ACTTTGGGAGGCCGAGGCGGGTGGATCAGGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02572.hp2 HG02886.hp2 others(1): Show HG01361.hp1 HG02572.hp2 HG02886.hp2 HG02895.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0009 a0004c0019 a0007c0022 a0001c0009 a0004c0019 a0007c0022	a0001c0009t0008 a0004c0019t0028 a0007c0022t0021 a0001c0009t0008 a0004c0019t0028 a0007c0022t0021	a0001c0009t0008g0290 a0004c0019t0028g0011 a0004c0019t0028g0207 others(1): Show a0001c0009t0008g0290 a0004c0019t0028g0011 a0004c0019t0028g0207 a0007c0022t0021g0006	4	324	0.0124	320	c.497 others(337): Show c.497-3146_497-3145insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAACACTTTGGGAGGCCGAGGCGGGTGGATCAGGAGGTCAGGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAGAAAGGTT	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANO1_chr11_70073317_70194530	70163987	T T	TAACTTTT others(313): Show TAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0235 a0001c0001t0002g0235	1	302	0.0033	320	c.195 others(337): Show c.1950+660_1950+661insTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCAACTTTTTTTTTT	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANXA2_chr15_60342151_60402986	60365044	A A	ATGGCAGT others(313): Show ATGGCAGTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02080.hp2 HG02647.hp1 others(1): Show HG02074.hp1 HG02080.hp2 HG02647.hp1 NA19072.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0120 a0001c0001t0001g0190 a0001c0001t0001g0195 others(1): Show a0001c0001t0001g0120 a0001c0001t0001g0190 a0001c0001t0001g0195 a0003c0004t0001g0036	4	334	0.0120	320	c.149 others(335): Show c.149-522_149-521insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAATACAACTGCCA	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12			chr15	TogoVar
AOPEP_chr9_94721699_95092159	94948416	T T	TCCCATTC others(313): Show TCCCATTCTAACTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCTATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0128 a0002c0008t0001g0128	1	182	0.0055	320	c.166 others(339): Show c.1662-6746_1662-6745insTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC TATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCCCCCATTCTAACTCTT	AOPEP	ENSG00000148120.19	transcript	ENST00000375315.8	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
APBB1IP_chr10_26433341_26572803	26564036	T T	TAAAAAGA others(313): Show TAAAAAGAAAAAATATGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00609.hp2 others(51): Show HG00408.hp1 HG00544.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp1 HG01891.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02074.hp1 HG02080.hp2 HG02132.hp1 HG02155.hp2 HG02293.hp1 HG02602.hp2 HG03490.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG06807.hp2 NA18939.hp2 NA18950.hp1 NA18952.hp2 NA18960.hp1 NA18969.hp2 NA18973.hp1 NA18980.hp2 NA18988.hp2 NA18993.hp1 NA18999.hp1 NA19058.hp1 NA19065.hp2 NA19068.hp1 NA19085.hp2 NA19088.hp2 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0018 others(51): Show a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0177 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0213 a0001c0001t0001g0237 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0257 a0001c0001t0002g0265 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0290 a0001c0001t0002g0303 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0332	54	358	0.1508	320	c.147 others(339): Show c.1473+1621_1473+1622insTGGCCGGGTGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG ATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAAAATA	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB1IP_chr10_26433341_26572803	26564036	T T	TAAAAAGA others(313): Show TAAAAAGAAAAAATATGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAGA	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	358	0.0028	320	c.147 others(339): Show c.1473+1621_1473+1622insTGGCCGGGTGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG ATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAGAAAAAATA	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
API5_chr11_43306996_43349529	43310873	A A	AATATATA others(313): Show AATATATAATATATATTATATATACAATTGTATATATAATATATATTATA TATAATTGTATATATAATATATATTATATATAATTGTATATATAATATAT ATTATATATAATTGTATATATAATATATATTATATATAATTGTATATATA ATATATATTATATATAATTGTATATATAATATATATTATATATATAATTG TATATATAATATATATTATATATATAATTGTATATATAATATATATTATA TATATAATTGTATATATAATATATATTATATATATAATTGTATATATAAT ATATATTATATATATAATTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG02683.hp2 HG03491.hp2 HG00323.hp1 HG02683.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0012 a0001c0001t0001g0097 a0001c0001t0001g0100	3	384	0.0078	320	c.-12 others(331): Show c.-1255_-1254insATATATAATATATATTATATATACAATTGTATAT ATAATATATATTATATATAATTGTATATATAATATATATTATATATAATT GTATATATAATATATATTATATATAATTGTATATATAATATATATTATAT ATAATTGTATATATAATATATATTATATATAATTGTATATATAATATATA TTATATATATAATTGTATATATAATATATATTATATATATAATTGTATAT ATAATATATATTATATATATAATTGTATATATAATATATATTATATATAT AATTGTATATATAATATATATTATATATATAATTGT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1122		chr11	TogoVar
API5_chr11_43306996_43349529	43310873	A A	AATATATA others(313): Show AATATATAATATATATTATATATACAATTGTATATATAATATATATTATA TATAATTGTATATATAATATATATTATATATAATTGTATATATAATATAT ATTATATATAATTGTATATATAATATATATTATATATAATTGTATATATA ATATATATTATATATAATTGTATATATAATATATATTATATATATAATTG TATATATAATATATATTATATATATAATTGTATATATAATATATATTATA TATATAATTGTATATATAATATATATTATATATATAATTGTATATATATT ATATATTATATATATAATTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0065	1	384	0.0026	320	c.-12 others(331): Show c.-1255_-1254insATATATAATATATATTATATATACAATTGTATAT ATAATATATATTATATATAATTGTATATATAATATATATTATATATAATT GTATATATAATATATATTATATATAATTGTATATATAATATATATTATAT ATAATTGTATATATAATATATATTATATATAATTGTATATATAATATATA TTATATATATAATTGTATATATAATATATATTATATATATAATTGTATAT ATAATATATATTATATATATAATTGTATATATAATATATATTATATATAT AATTGTATATATATTATATATTATATATATAATTGT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1122		chr11	TogoVar
API5_chr11_43306996_43349529	43310873	A A	AATATATA others(313): Show AATATATAATATATATTATATATATAATTGTATATATAATATATATTATA TATAATTGTATATATAATATATATTATATATAATTGTATATATAATATAT ATTATATATAATTGTATATATAATATATATTATATATAATTGTATATATA ATATATATTATATATAATTGTATATATAATATATATTATATATATAATTG TATATATAATATATATTATATATATAATTGTATATATAATATATATTATA TATATAATTGTATATATAATATATATTATATATATAATTATATATATAAT ATATATTATATATATAATTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	384	0.0026	320	c.-12 others(331): Show c.-1255_-1254insATATATAATATATATTATATATATAATTGTATAT ATAATATATATTATATATAATTGTATATATAATATATATTATATATAATT GTATATATAATATATATTATATATAATTGTATATATAATATATATTATAT ATAATTGTATATATAATATATATTATATATAATTGTATATATAATATATA TTATATATATAATTGTATATATAATATATATTATATATATAATTGTATAT ATAATATATATTATATATATAATTGTATATATAATATATATTATATATAT AATTATATATATAATATATATTATATATATAATTGT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1122		chr11	TogoVar
ARHGAP24_chr4_85470150_86007666	85663336	T T	TAAGAATG others(313): Show TAAGAATGCTTGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACGCGGTGAAACCCCGCCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTGGCGGGCGCCTGTGGTCCCGGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGGTC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02486.hp2 HG01346.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0020 a0001c0001t0005 a0001c0001t0020	a0001c0001t0005g0036 a0001c0001t0020g0002 a0001c0001t0005g0036 a0001c0001t0020g0002	2	108	0.0185	320	c.181 others(339): Show c.181-58536_181-58535insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACGCGGTGAAACCCCGCCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTGGTCCCGGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGGTCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATGCTTGTG	ARHGAP24	ENSG00000138639.18	transcript	ENST00000395184.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP35_chr19_46855997_47010077	46916382	T T	TCTGTCCC others(313): Show TCTGTCCCTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00558.hp1 others(27): Show HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00621.hp1 HG01433.hp2 HG02015.hp1 HG02071.hp1 HG02083.hp1 HG02155.hp1 HG02559.hp1 HG02698.hp1 HG02738.hp1 HG03139.hp1 HG03209.hp2 HG03239.hp1 NA18951.hp1 NA18966.hp2 NA18969.hp1 NA18982.hp1 NA18993.hp2 NA19000.hp2 NA19007.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp2 NA19079.hp1 NA19080.hp1 NA19085.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0013 a0001c0001 a0003c0013	a0001c0001t0004 a0001c0001t0014 a0001c0001t0022 others(3): Show a0001c0001t0004 a0001c0001t0014 a0001c0001t0022 a0001c0001t0032 a0001c0001t0039 a0003c0013t0004	a0001c0001t0004g0022 a0001c0001t0004g0070 a0001c0001t0004g0071 others(27): Show a0001c0001t0004g0022 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0086 a0001c0001t0004g0095 a0001c0001t0004g0233 a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0242 a0001c0001t0014g0087 a0001c0001t0014g0247 a0001c0001t0014g0248 a0001c0001t0022g0074 a0001c0001t0032g0232 a0001c0001t0039g0077 a0003c0013t0004g0244	30	298	0.1007	320	c.-18 others(339): Show c.-188-2091_-188-2090insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCTGTCCCTCTGTCTT	ARHGAP35	ENSG00000160007.20	transcript	ENST00000672722.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGAP39_chr8_144524179_144690846	144687405	A A	ACCCCGTG others(313): Show ACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCTGTGACCACG CACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCA CTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTG ACCACACACTAGCGGCGAGCACTTCCCACCCCCGTGACCACACACTGGCG GCGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCAC CCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACGCA CTGGCGGCGAGCACTTCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	246	0.0041	320	c.-18 others(331): Show c.-1802_-1801insGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGG GGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTC GCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGG TCACGGGGGTGGGAAGTGCTCGCCGCTAGTGTGTGGTCACGGGGTGGGAA GTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAG TGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGCGTGGTCACAGGG GTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1560		chr8	TogoVar
ARHGDIB_chr12_14937031_14966601	14951698	T T	TAAAACAT others(313): Show TAAAACATTGAGGAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAAA TAGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	464	0.0022	320	c.-12 others(335): Show c.-12-975_-12-974insTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATTTCGGCTC ACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCTCTCCTCAATGTTTT	ARHGDIB	ENSG00000111348.9	transcript	ENST00000228945.9	protein_coding	1/5			chr12	TogoVar
ARHGEF28_chr5_73621196_73946990	73850085	T T	TGTTATTT others(313): Show TGTTATTTTGCATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGGGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTCAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0188 a0004c0004t0001g0188	1	188	0.0053	320	c.174 others(339): Show c.1747+1014_1747+1015insTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGGGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTCAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCGTTATTTTGCATTTTT	ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	13/35		INFO_REALIGN_3_PRIME	chr5	TogoVar

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