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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ALDH6A1_chr14_74051847_74089453	74053659	GGCCTCCC others(9771): Show GGCCTCCCAAAGCTCCAGGATTACAGGTGTGAGCCACCGCACCTGGCCAA AACCTAAACTTTTTTTTTTTTTTGAGAGAGTCTCACTCTGTCGCCCAGGC TGGAGTGCAATGATGCCATCTTGGCTCACTGCAACCTCCACCTCCCGGGT TTAAGCGATTCTCCTGCCTCAGCCTCCCGAGGAGCTGGGACTACAGGTGC ATGCCACCACGTCTGGCTGATTTTCTTTTTTTTGAGACAGAGTCTTCGCT CTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGAT CTGCCTCCAGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAATAGCTG GGACTACAGGCTCCTGCCACCATGCCCGGCTAATTTTTTTGTATTTTTTA GTAGAGACAGAGTTTCACCATGTTAGCCAGGGTAGTCTTGATCTCCTGAC CTCGTGATCCGCCCGCCTCGTCCTCCCAAAGTGCTAGTATTACAGGTGTG AACCACTGCGCGCAGCCTAATTTTCGTATTTTTAGTAGAGACAGCGTTTC ACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGAACCACCCAC CTTGGCCTCCCAAATTACTGGGATTACGGGTGTGAGCCACCGCACCTGGC CTAAACAACTTTTTTTTTCTTGTTCCCTTTGTCTGTGTCTCTAAATAAAT AATGTTACATTACAGTTTTTTTTGTTGTTTTTTTTTTTGAGTCGGAGTCT CGCTCTGTTGCCAAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCA ACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTA GCTGGGATTACAGGTGCCCACCACCATGCCCAGCTAATTTTTGTATTTTT AGTAGAGATGGGGTTTCACCATTTTGGTCAGGCTGATCTCGAACTCCTGA CCTTGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACGGGTGT GAGCCACCGCACCCAGGCTCTTTTTTTTTTTTTTTTTGAGAAGGAGTCTT GCTTTGTCACCCAGTCTGGAATGCAGTGGAGTGATCTCGGCTCACTGCAA CCTCCCATCTCCCAGGTTCAAGCGATTCTCCTGCCTCGGCCTCCTGAGTA GCTGGGATTAGAGGAGCCTGCCACCATGCCCAGCTAATTTTTGTATATTT AGTAGAGACGGCATTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTAA CCTGTGATCTGCCCGCCTTGGCCTCCCAAAGTGTTGGGTAAGCCACCGTC CCCAGCCTCCTTAGAGTTTTCTACTTTGCTTATTTCCTTAATGTCTGAGC ACAAATATTTTTTCATGTTGTTAAAGTTTTTGTCATTTTCATCTTTATGA TATGTAACATTTCGGATTGGCTAGTATATTGTTGTCCTTATCAACTTTAT GATTTTGTGATGGATAGTTTGCTTTGTAGTTTTCTTTTTTTCTTTCTTTT TTTTTTTGAGACGGAGTTTCACTCTTTTCTCCCAGGCTGGAGCACAGTGG CGCGATCTCAGCTTACTGCAGCCTCCGCCTCCTGGGTTCAAGCGATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACAGCTGCCACCATGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGAGCTTTCATCACATTGTCCA GGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTGTAGTTGTT TCATAATATTCAATTATGGTGTGGAATTTATCCTATGTTTACCCATTATA TATTTTTTAAAAAGAAGAGAAGCCTATTTGACCGTATTTTTCCTTTTCAC ATTTTTTTCCTTTGAAATTCTTTAGGACACATATTGAAGGAAATGTGGAT ATTGGAGATTTGACCTGGGAGCAGAAGGAAAAAGTATTGCGATTGCTCTT TGCAAAAATGAATGGCTGTCCTTCTAGGTAACTCCCTATTTCTGCAGTGA AATACCAAGTTGTTATCAAATCTAGAAACCACTTAGGAACAAAGAACTTA TTTTTCTTACTTAGAACTAAAGGGACGGGAAAGGACCAGAAAATATAAAA AGGCCCTACTGCTTAACTACTGCAGCTCCCAGAGATAAAGAATGGGAGAT TAATGAATGAGCATGAAAATGAAAGATGAGTTGGAATTAAAGGGGGAGGG GAAAGATTCATCTTAGATGTTTAAGGTAGTGCTTATTAAGAAGTTACAAT ATTGCTCAGCTGAATGAGTGGCAACTGAAGAGAAACATAACAATATTAAG ATTTTATTGGTTTGCAAAGATAAGTATTTTTTTTTTTTTTTGAGATGGGG TCTCACTCTGTCACCCAGGCCAGAGTGCAGTGGCACAATCACAGCTCACT ATAACCTCCACTTCCCAGGTGCAAGTGATCCTCCCACCTCAGCCTACTGA GTAGCTGGGACTACAGGCATGTGCCACAACGCCCGGCTAATTTTTTTTTT TTTTTTTTTTGAGAAGGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAGT GATGTAATCTCGGCTCACTGCAACCTCTGCCTCCTGGTTCAAGTGATTCT CGTGCTTCAGCCTCCCGAGTAGCTAGGATTACAGGGGCCACCACCATGCC TGGCTAATTTTTGTATTTTTTTGTAGAGATGGAGTTTTACCATGTTATCC AGGCTGGTCTCGAACTCCTGACCTGAGGTGACCTGCCCGCCTCAGCCTCC TAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCGGCCCTAATTTTG TATTTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCACAAA CTCCTGACCTCAGATGATCCACTCACCTCGGCTTCCCAAAGTGCTGGGAT TACAGGCATGAGCCACTGCCCCTGGCCAGTTATACATTTTAAAATAACTA AAAGAGTGTAATTGGATTGTAACACAAGGGATAAATACTTGAAGGGATGG ATACTTCATTCTCTATGATGTGATTATTTCACATTGCATGCCTGTATCAA AACATCTCACGTACCCCACAAATACGTATACCTACTATCACCCACAAAAA TAAAAAATAAAAAAAAATTAAAATACAAAAAGAAAATATGAAGGCATGAG GAGACACTGCCTCATTCATTATCTTTGTTGACTTTTACCCACTACAGGAA ATACAACCAGAGTTCTAGGCCTCCAGTTCCAGACTATGTTGTTTCTGACA GTGGGGAAACAAAGGAATTTGGGTAAGAGCTCTCTTGCTTAAGTAATAAA CATGAGCCCAACACGATGGTTCTTGTGGGCATCTTGAATGTGCTAATTGA AAGTAATATGACAAGTCTGTTATTCTAAACCAGGTTTCATGTGTGTAGAG TTGTTGACGGTTCTGTTATTTTGTCATTATTGCAGGGATGAAAGTAAGCT TCAAGATAAAATCTTCATCACCCAGCAAATTGCAATATCAGACTCTTCTG GTGAAGTGGTGCTACCCACTATTCCAAAAGAACCTCAGGAGTCTGACACA GTAAGGAGTCTGTATCTAATCAAACAATGTATATTGTTGTCACCCTTCCC CATGTCGCTTCTTGCTAAATCACGGTTATTTTCTCTACTAGTTGAGAGAC TTCAGGGATCAGTGGAATGAGTAATAAATAGCATTAGTAGATTACATAAA TTTTTAAAGCAATATCCGTACAAATGCATATTATACTAATGCAAATGCAA ATGTGTGCCTCTTTTTGTGTAGAAACCTATAGGTTGCCTTTTGAAGTAAA CAGCCTAGCCAAAATGTGTACTATCTTTTACGTAAGAGTAAACATAGTGA CCTTGTGACTCTTAGCTTTCCATCACAGGTGGGAAGTCAGAGTCATTACA ACCTAGAGGACAAAGGCTTATAAGGAGATATGAAATGATTTTTTTAAGCC AAGTTTTTCTCTTTAAGAGTTTTTAATTTATAATTTGTTATTCATAATTA GTACAATGTAGAATCTGAGAAATTTCAAATGAAGCCACATTAGAACAAAA AGAAAATACTGACTTTTTAGCCGCGATCACATGAATATAACTGATGAGTT TTTTTCATCTAAGAAATAAGAAACTCTGAGCAGCAAATAGTTGGCCAGAT GAGTTGTTTCTAATTAGAGCATCACAGTTCTGATTAGTGTGTTTTTTTAG AAGTGATTTCCCTTAAATATAAGGAAAATGTTAGGAATCTCTGTGACTAC ATTTAATTCCACTTGGAATATAGACAATAATGACCTTTTATTTAACCCAG CCTATAGTTGTTGGATTGGATTAAATATCACTACCAGGGCCAGGTGCGGT GGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCA TTAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCTGTCT CTACTAAAAGTACAAAAAATTATCCGGGTGTGGGGGCATGCACCTGTAAT CCCAGCTACTCGGGAGACTGAGGCAGGAGAATTACTTGAACCCAGGAGGT GGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCACCCTGGGCAAC AGAGCGAGACTCCATCTCAAAACAAAACAAAACAACAACAAAAAAAATCA CTACCAGTTGCCAGCTGTGATAAGAGCTAAAACAAGGGGTACTGTAGTCT CAAATTATAAATTTCTATTGCCTCATATTTAGGAAAGCAGAAAAAAAAAA AAAAAAGGCCCAGTAGGATCATAAGTGTATTTTACAAAAGTTCCAGTCAC CTTAAGTGATTGAAGGTTTTGACATTTTATCCAGCCAGGTGGTAGTAATA AGCCTCAAATCCACAGGGTACACAACATTTTCAAGGTCTTTTTTTTTTTT ATCATACTTAATTCATGAATAACCCCCATAGTGTAGGTTAGTTAGCACTA TCAAAGTGACTGGTAAGGACGCAGGAAAATAAAAAGAGGATTCAATTGGA TTGGTACTGCAAAAAGAATCCATTCTGTTCAGCACATGAATTTCTGTTCT GACCTTAAGTTTAGATATATCAAAGAAACAAAAAGCATAGAGGCGGCTGG GGGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGG CAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAA ACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGTATGC CTGAAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCC GGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCATTGCACTCTAGCCT GGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGC GTAAAGGCAGTTGAACTAATGGCAGAAGAAGACTGTCAAAGCATTTTTTT TTAACCACTTTATGTCATGGAAAGCTTCGAAATTTCTTAGGCCCAGTTAA TTGCTCTACATGAAGAGTTCTTCATTAAACAAATCACTAATTAGAAATAC AGGCAAGAGAAAAGAATATATAAAATTTGGCAAGTAATAGCAGGTTAGAT TTGCTTAAGGCAGGTGTCTTACCCATTTTCATGGTTGGAACAATCCTTGA TTTCTGGGCCTAAAATAACTTTTGAAATAATTTTCTAAGAAAATTATTTG CATCTGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAG GCCGAGGCAGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACC AACACGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGTGTG GTGGCGCATGCCTGTAATCCCAGCTACTAGGGGGGCTGAGGCAGGAGAAT CGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCTGAGATCACGCCATTG CACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAGAAAA AAGAAAATTATTTGCATCTGAATTAATGGCTGAAGTATTAATTAATGATT GCTGAAGAGAACCCTGAAACTTAGTACTTGGCACATATAACAAAAAGTTG ATTTATCCATTGCTTACTGAGGTATCCTTGAGAAGTGATCTTAAGCAGGA GCAGTGACAATGATAGAATTAATAGTGGTCATGAATTACTAGGAAACAAA GTGGCATTGAGCAGAAAAGAAAGAAGCTGTTGCCACAACTTTGGGATATA TAAAAATGGATTATATCTTGTGTATTGTGGGATAAAAGAGGGGCTAAAGA AAACTTTGCAGGAGGTCTCTCCCAGTGGCATTTAGGTAGCGCTATGTTTG AGGATCAACCAAAAGCGGTGAGTTATTTCTGTCCTGTTTCCCCATCTAAG AGTTCTTCTTGCAATTATTGGAACATCTTCTTTAAAAAATTTTTTTTCCC TTTTCTTTTTTTACTTTTTCAATTTTTTTAAATAATAGATACGGGGTTTC GCCACGTTCTTCAACTCCTGGGCTCAAGCAATCTGCCCACTGTGGCCTCC CAAAATGATGGAATTACAGGCGTGAGCCACCGCGCCTGGCTGGAACATTT TCTTTACATACACTGGCTTTTCTCCCCTTCAAATCATCAGAAAATGGGAT AATTTTTAGAAATCAGGTTTAAGCACTACTTTCAGATAAGCATTTCATAG TTACAACAGTTACCTCAAAATAGAAGTATGAAGAGCAAGTGAGAAATCTG GTTTCATTGTTACACTAGGCAGTTCCCTATAGAAACTTTGCGGGGGTTAA TAGTCCTGAGGAAGATTTTAGTTACAATGTATTCCAATCCCATCGATCTG ATCTGAGCAAAGCTGACAAATGAAGCTGGTCAAAAATAAAGGGAGATTAC TCAGGATGGAGTCAGTCTTAAACAAACTTGTTTCTAACGGCCCATGGTAG GCATGACAACAGCAGGTGAGGAAAGAGTAGCATCTTCTTCTTTCCACTGA GAAGTAATGGTCTTTAACTGAGTGTAGAATTGGATGCCCTAAGGAAAACA GAAAAAAAGTTAGCATATATTTCTGGGGTTTCATGATTCTTCTTTTAATT AGCTTTTGAAGGAGGTATTATAAAGTGCTACTCACTTTCCTAATTGAGAA ATGCAATCAGAATCCAATATATATTGTTCCTAAGATAATTGATCTAAAAC ATTTAACATAATACCTGGCAGATAGTAAACAATCAAACCTTAGCCATCAT TATTATGCTGAAACTAGTATTTCTTTCTTTTTTGTTTGAGATGGAGTCTT GCTCTGTCACTTAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAA CCTCTGCCTCCCGGGTTCAAGCAGCTCTCCTGCCTCAGCCTCTCGAGTAG CTGGGATTACAGGCACCTGCTACCACGCCTGGCTAATTTTTGTATTTTTA GTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCCGGC CTCAAGTGATCCGCCTTCCTCGGCCTCTCAAAGTGCTGGAATTACAAGTG TGAGCCACCGTGCCCCCAGCTATTATATAGTAGGCCATTTATTTATTTAT TTATTTATTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAG TGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCATGTGATT CTCCTGCCTCAGCCTTCTGAATAGCTGGGATTACAAGTGTGTGCCACCAT GCCCAGCTATTTTTGTATTTTTAGTAGAGAAGGGCTAATTTCAGATTAGC CCATGTTGGCTAGCACCATGTTGGCCAAGCTGGTCTTGAACCCCTGACCT CAGGTGATCCGCCAGTCTTGGTCTCCCAAAGTTCTGGGATCACAGGCATG AGCCACTGTACCCAGCGGCCATTTCTGATAATTATCAGAGATCATGAGCT CTATATTGAAGTGGCAAACCCAAAGTATCTTAGAAATCTAAAGTAAAATG TCTGACATTATACAAATTCACTTCTCAATTACCTATAACATGTGAGCCCA AAAATTCAGCATATTTAACTCTCTCTATATATAGATATAGTTTATAAGAG TAGGCTTGAGCAAAAGAGAATACATTGTGCAGATCTAACACTTATATAAT TACTAGCAAGCTAGAATGACATTTTACCAGATTACCAGAGTAATTTATAA TAATTAAACTGGGGGGTGCAGCCAGGAGCGGTGGCTCACACTTGTAATAT CAGCACTTTGGGAGGCTGAGGTAGGCGGATCACTTGAGGCCATGAGCTCA AGACCAGCCTGGCCCAACATGGCGAAACCTCGTCTCTACTGGGAAAAAAA AAAAAAAAAAAAAAAAAAAAAAGCTGGGCGTGGTGGAGCCTGAGGCAGAA TTGCTTGAACCTGGGAGGTGGAGGTTGCAAGTGAGCCGAGAATGCACCAT TGCACTCCAGCCTGGGCAACAGAGCAAAACTCCCATCTCAAAAAAATAAA TAAATGGAGAGGGTGGGCAGGGAACAATTTTTAAACAATAGTTGTACTCT GTTTTGCTTAAAAGAAATGTTACTAGTATCAAATTAGTCATTTTTACAAA AGCTGTGACTAGGCCGGGTGCGGTGACTCACTCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCAGGCAGATCACCTGAGGTAAGGAGGTCGAGACCAGC CTGGCCAACATGGCGAAACCCCGTCTCTACTACAAATACAAAAATTGGCG GGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCGGGAGGCATAGATAC GAGAATTGCTTGAACCCTGGAGGCTGAGGTTGCAGTGAGCCAAGATCATG CCACTATACTCCAGCCTGGGTGACAGAGAAAGATTCCATCAAAAAAACCC CAAAACAAAAAACCAAAAGCTGTGACTAATATACAAACTATATAATCAAC CTCCAAATACCAAAGTGTTGACTTCTTAACCATTTGGCCACACTGTCATA ATGCTATGCAATCCCATTGTTAATTTTTTAATAACCCAAACATAAATAAA ATAAAAAAGCCCCACATCCCTCGCCCTGTGGCAGCACATAGCTGGCACAG AAAAAAAAAATCAACCTATAAAAGGGGAGACTTGTATAACAAAACATGTA ATTTATTAATGAAGGTTTCAAAATGGCTCTAGTCCTATGACTAGAAAGAA CTTCCCCTAGCCTATTTGTTCAACAAATGTTTGGGCAGCCTGCTCTGTTC CAGGTACTGCAGATAAGTAGATAACAACTACAGTCTGATGAGGGCTTCTT TAAATGGCTTAAAGAGCCCTACATGACTCAACCCCTGCCTGCCTCTCTAA CTTCATTTCTTCCTTTTCTTCTCATTTGCTCACTGTGCCCCAGCCCATTT CCGCTGTCTGAATGTGCCATGCTTCTTCCTGCCTCGGGACATATGCACCT GTTGGCCGATGTGGCAATAGTAATAATTCTTCTTTTTTTTTTTTTTGAGA TGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTCCAGTGGTGCAATCTCGGC TCACTGCAACTTCCGCCTCCCAGATTCAAAGGATTCTTCTGCCTCAGCCT CCCGAGTAGCTGGGATTATAGGCACCTGCCACCACACCTGGCTAATTGTT TTATTTTTAGTAGAGGGGGTTTTGCCATGTTGGCCAGATTGGTCTCAAAC TCCTGACTTCAGGTGATCTGCCTGCCTCA	G G	exon_loss_variant others(5): Show exon_loss_variant splice_acceptor_variant 3_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG02602.hp1 HG02602.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0003 a0004c0007t0003	a0004c0007t0003g0200 a0004c0007t0003g0200	1	400	0.0025	-9778	c.150 others(15): Show c.1503+1385_*6982del		ALDH6A1	ENSG00000119711.13	transcript	ENST00000553458.6	protein_coding	12/12						chr14	TogoVar
ALDH6A1_chr14_74051847_74089453	74067571	T T	TA TA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp2 HG02257.hp2 HG02486.hp2 others(3): Show HG02055.hp2 HG02257.hp2 HG02486.hp2 HG02723.hp2 HG02886.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0122 a0001c0001t0001g0123 others(2): Show a0001c0001t0001g0032 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125	6	399	0.0150	1	c.853 others(6): Show c.853-3dupT		ALDH6A1	ENSG00000119711.13	transcript	ENST00000553458.6	protein_coding	7/11						chr14	TogoVar
ALDH6A1_chr14_74051847_74089453	74072618	A A	AAAAC AAAAC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01081.hp2 HG01884.hp1 HG02630.hp1 others(5): Show HG01081.hp2 HG01884.hp1 HG02630.hp1 HG03098.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0034 a0001c0001t0001g0157 a0001c0001t0001g0012 a0001c0001t0001g0034 a0001c0001t0001g0157	8	384	0.0208	4	c.112 others(16): Show c.112-11_112-8dupGTTT		ALDH6A1	ENSG00000119711.13	transcript	ENST00000553458.6	protein_coding	2/11						chr14	TogoVar
ALDH6A1_chr14_74051847_74089453	74072618	AAAAC AAAAC	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp2 HG02145.hp1 HG02451.hp2 others(13): Show HG01884.hp2 HG02145.hp1 HG02451.hp2 HG02572.hp1 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp2 HG03209.hp1 HG04184.hp2 HG06807.hp1 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0002t0001 a0001c0009t0001 a0001c0001t0001 a0001c0002t0001 a0001c0009t0001	a0001c0001t0001g0038 a0001c0001t0001g0114 a0001c0001t0001g0115 others(12): Show a0001c0001t0001g0038 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0163 a0001c0001t0001g0210 a0001c0002t0001g0112 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0009t0001g0113	16	392	0.0408	-4	c.112 others(16): Show c.112-11_112-8delGTTT		ALDH6A1	ENSG00000119711.13	transcript	ENST00000553458.6	protein_coding	2/11						chr14	TogoVar
ALDH7A1_chr5_126536841_126600219	126552023	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp2 HG00544.hp1 HG00558.hp1 others(35): Show HG00099.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00673.hp1 HG01069.hp2 HG01433.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG02004.hp1 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02132.hp2 HG02145.hp2 HG03654.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18944.hp1 NA18950.hp2 NA18964.hp2 NA18975.hp2 NA18980.hp2 NA18982.hp1 NA18990.hp1 NA18993.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19057.hp1 NA19064.hp2 NA19066.hp2 NA19082.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0011 a0002c0002 a0005c0011	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0010 a0002c0002t0012 a0002c0002t0025 a0005c0011t0002	a0002c0002t0001g0001 a0002c0002t0001g0186 a0002c0002t0001g0200 others(34): Show a0002c0002t0001g0001 a0002c0002t0001g0186 a0002c0002t0001g0200 a0002c0002t0001g0229 a0002c0002t0001g0257 a0002c0002t0001g0302 a0002c0002t0001g0337 a0002c0002t0001g0354 a0002c0002t0001g0359 a0002c0002t0001g0360 a0002c0002t0002g0047 a0002c0002t0002g0051 a0002c0002t0002g0053 a0002c0002t0002g0068 a0002c0002t0002g0077 a0002c0002t0002g0082 a0002c0002t0002g0085 a0002c0002t0002g0097 a0002c0002t0002g0175 a0002c0002t0002g0203 a0002c0002t0002g0237 a0002c0002t0002g0245 a0002c0002t0002g0323 a0002c0002t0003g0061 a0002c0002t0003g0067 a0002c0002t0003g0303 a0002c0002t0003g0313 a0002c0002t0004g0009 a0002c0002t0004g0041 a0002c0002t0004g0076 a0002c0002t0004g0188 a0002c0002t0004g0374 a0002c0002t0006g0113 a0002c0002t0010g0084 a0002c0002t0012g0242 a0002c0002t0025g0256 a0005c0011t0002g0261	38	378	0.1005	0	c.131 others(4): Show c.1315A>C	p.Lys others(6): Show p.Lys439Gln	ALDH7A1	ENSG00000164904.18	transcript	ENST00000409134.8	protein_coding	14/18	1336/4765	1315/1620	439/539			chr5	TogoVar
ALDH7A1_chr5_126536841_126600219	126559319	TCTGCATC others(18): Show TCTGCATCTTCAAAGGCTTAGGAAAG	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA18967.hp1 NA18967.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0002 a0007c0009t0002	a0007c0009t0002g0328 a0007c0009t0002g0328	1	378	0.0026	-25	c.914 others(35): Show c.914-10_928delCTTTCCTAAGCCTTTGAAGATGCAG	p.Ala others(13): Show p.Ala305_Ala309del	ALDH7A1	ENSG00000164904.18	transcript	ENST00000409134.8	protein_coding	11/18	949/4765	914/1620	305/539			chr5	TogoVar
ALDH9A1_chr1_165657216_165703562	165665015	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	330	0.0030	0	c.146 others(6): Show c.1462+3G>A		ALDH9A1	ENSG00000143149.13	transcript	ENST00000354775.5	protein_coding	10/10						chr1	TogoVar
ALDOB_chr9_101415560_101440774	101425447	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	416	0.0024	0	c.799 others(5): Show c.799+6G>A		ALDOB	ENSG00000136872.21	transcript	ENST00000647789.2	protein_coding	7/8						chr9	TogoVar
ALDOB_chr9_101415560_101440774	101429747	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18939.hp1 NA18944.hp2 NA18959.hp1 others(3): Show NA18939.hp1 NA18944.hp2 NA18959.hp1 NA19007.hp1 NA19082.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	6	416	0.0144	0	c.324 others(5): Show c.324+8C>G		ALDOB	ENSG00000136872.21	transcript	ENST00000647789.2	protein_coding	3/8						chr9	TogoVar
ALDOC_chr17_28568120_28581895	28575413	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18989.hp2 NA18989.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0002 a0005c0004t0002	a0005c0004t0002g0012 a0005c0004t0002g0012	1	350	0.0029	0	c.112 others(5): Show c.112+8G>A		ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	2/8						chr17	TogoVar
ALDOC_chr17_28568120_28581895	28575415	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18989.hp2 NA18989.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0002 a0005c0004t0002	a0005c0004t0002g0012 a0005c0004t0002g0012	1	350	0.0029	0	c.112 others(5): Show c.112+6T>A		ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	2/8						chr17	TogoVar
ALDOC_chr17_28568120_28581895	28575417	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18989.hp2 NA18989.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0002 a0005c0004t0002	a0005c0004t0002g0012 a0005c0004t0002g0012	1	350	0.0029	0	c.112 others(5): Show c.112+4A>G		ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	2/8						chr17	TogoVar
ALDOC_chr17_28568120_28581895	28575543	C C	G G	splice_region_variant splice_region_variant	LOW	NA18989.hp2 NA18989.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0002 a0005c0004t0002	a0005c0004t0002g0012 a0005c0004t0002g0012	1	350	0.0029	0	c.-11 others(3): Show c.-11G>C		ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	2/9						chr17	TogoVar
ALDOC_chr17_28568120_28581895	28575548	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18989.hp2 NA18989.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0002 a0005c0004t0002	a0005c0004t0002g0012 a0005c0004t0002g0012	1	350	0.0029	0	c.-12 others(5): Show c.-12-4C>T		ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	1/8						chr17	TogoVar
ALDOC_chr17_28568120_28581895	28575549	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18989.hp2 NA18989.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0002 a0005c0004t0002	a0005c0004t0002g0012 a0005c0004t0002g0012	1	350	0.0029	0	c.-12 others(5): Show c.-12-5T>A		ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	1/8						chr17	TogoVar
ALDOC_chr17_28568120_28581895	28575551	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18989.hp2 NA18989.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0002 a0005c0004t0002	a0005c0004t0002g0012 a0005c0004t0002g0012	1	350	0.0029	0	c.-12 others(5): Show c.-12-7A>T		ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	1/8						chr17	TogoVar
ALDOC_chr17_28568120_28581895	28575552	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18989.hp2 NA18989.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0002 a0005c0004t0002	a0005c0004t0002g0012 a0005c0004t0002g0012	1	350	0.0029	0	c.-12 others(5): Show c.-12-8C>G		ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	1/8						chr17	TogoVar
ALG10B_chr12_38311774_38334721	38318247	CTTTCATT others(3): Show CTTTCATTTTA	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02970.hp2 HG03041.hp1 HG03195.hp1 others(2): Show HG02970.hp2 HG03041.hp1 HG03195.hp1 HG03225.hp1 NA18522.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0014 a0006c0008t0014	a0006c0008t0014g0009 a0006c0008t0014g0009	5	450	0.0111	-10	c.172 others(22): Show c.172-13_172-4delTTTCATTTTA		ALG10B	ENSG00000175548.9	transcript	ENST00000308742.9	protein_coding	1/2						chr12	TogoVar
ALG11_chr13_52007398_52038600	52028313	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0048 a0001c0001t0018g0048	1	360	0.0028	0	c.120 others(6): Show c.1208-6T>C		ALG11	ENSG00000253710.5	transcript	ENST00000521508.2	protein_coding	3/3						chr13	TogoVar
ALG13_chrX_111676170_111765649	111721716	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01106.hp1 HG01109.hp1 HG01243.hp1 others(71): Show HG01106.hp1 HG01109.hp1 HG01243.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0013 others(6): Show a0001c0001 a0001c0002 a0001c0013 a0002c0003 a0002c0005 a0002c0008 a0003c0004 a0004c0007 a0004c0009	a0001c0001t0001 a0001c0002t0001 a0001c0013t0001 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0013t0001 a0002c0003t0001 a0002c0005t0001 a0002c0008t0001 a0003c0004t0001 a0004c0007t0001 a0004c0009t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 others(69): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0002t0001g0002 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0183 a0001c0013t0001g0042 a0002c0003t0001g0052 a0002c0003t0001g0063 a0002c0005t0001g0022 a0002c0005t0001g0025 a0002c0005t0001g0074 a0002c0008t0001g0047 a0003c0004t0001g0009 a0003c0004t0001g0065 a0003c0004t0001g0066 a0003c0004t0001g0067 a0004c0007t0001g0016 a0004c0007t0001g0017 a0004c0009t0001g0043	74	189	0.3915	0	c.143 others(6): Show c.1435+5A>T		ALG13	ENSG00000101901.13	transcript	ENST00000394780.8	protein_coding	12/26						chrX	TogoVar
ALG13_chrX_111676170_111765649	111728181	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	189	0.0053	0	c.224 others(6): Show c.2248-4A>G		ALG13	ENSG00000101901.13	transcript	ENST00000394780.8	protein_coding	18/26						chrX	TogoVar
ALG14_chr1_94969405_95077951	95027258	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0222 a0001c0003t0020g0222	1	386	0.0026	0	c.291 others(3): Show c.291T>C	p.Tyr others(5): Show p.Tyr97Tyr	ALG14	ENSG00000172339.10	transcript	ENST00000370205.6	protein_coding	3/4	344/9375	291/651	97/216			chr1	TogoVar
ALG1L2_chr3_130076831_130103390	130092230	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(46): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00741.hp2 HG01069.hp2 HG01106.hp2 HG01175.hp2 HG01255.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01943.hp2 HG01978.hp1 HG02055.hp1 HG02055.hp2 HG02257.hp1 HG02258.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03669.hp2 HG03704.hp2 HG06807.hp1 NA18522.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0006 a0001c0008 a0002c0002 others(6): Show a0001c0006 a0001c0008 a0002c0002 a0002c0007 a0002c0012 a0002c0015 a0003c0005 a0003c0011 a0004c0009	a0001c0006t0001 a0001c0006t0002 a0001c0008t0001 others(9): Show a0001c0006t0001 a0001c0006t0002 a0001c0008t0001 a0001c0008t0002 a0002c0002t0001 a0002c0007t0001 a0002c0012t0001 a0002c0015t0001 a0003c0005t0001 a0003c0011t0001 a0004c0009t0001 a0004c0009t0005	a0001c0006t0001g0066 a0001c0006t0002g0018 a0001c0006t0002g0064 others(28): Show a0001c0006t0001g0066 a0001c0006t0002g0018 a0001c0006t0002g0064 a0001c0008t0001g0069 a0001c0008t0002g0067 a0002c0002t0001g0004 a0002c0002t0001g0019 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0063 a0002c0002t0001g0065 a0002c0002t0001g0068 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0074 a0002c0007t0001g0072 a0002c0007t0001g0073 a0002c0012t0001g0062 a0002c0015t0001g0087 a0003c0005t0001g0013 a0003c0005t0001g0035 a0003c0005t0001g0036 a0003c0005t0001g0037 a0003c0011t0001g0032 a0003c0011t0001g0034 a0004c0009t0001g0135 a0004c0009t0005g0040	49	260	0.1885	0	c.253 others(5): Show c.253+8T>C		ALG1L2	ENSG00000251287.9	transcript	ENST00000425059.1	protein_coding	3/7						chr3	TogoVar
ALG1L2_chr3_130076831_130103390	130094518	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(44): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00741.hp2 HG01069.hp2 HG01106.hp2 HG01175.hp2 HG01255.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01943.hp2 HG01978.hp1 HG02055.hp1 HG02055.hp2 HG02257.hp1 HG02258.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03704.hp2 HG06807.hp1 NA18522.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0006 a0002c0002 a0002c0007 others(5): Show a0001c0006 a0002c0002 a0002c0007 a0002c0012 a0002c0015 a0003c0005 a0003c0011 a0004c0009	a0001c0006t0001 a0001c0006t0002 a0002c0002t0001 others(7): Show a0001c0006t0001 a0001c0006t0002 a0002c0002t0001 a0002c0007t0001 a0002c0012t0001 a0002c0015t0001 a0003c0005t0001 a0003c0011t0001 a0004c0009t0001 a0004c0009t0005	a0001c0006t0001g0066 a0001c0006t0002g0018 a0001c0006t0002g0064 others(26): Show a0001c0006t0001g0066 a0001c0006t0002g0018 a0001c0006t0002g0064 a0002c0002t0001g0004 a0002c0002t0001g0019 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0063 a0002c0002t0001g0065 a0002c0002t0001g0068 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0074 a0002c0007t0001g0072 a0002c0007t0001g0073 a0002c0012t0001g0062 a0002c0015t0001g0087 a0003c0005t0001g0013 a0003c0005t0001g0035 a0003c0005t0001g0036 a0003c0005t0001g0037 a0003c0011t0001g0032 a0003c0011t0001g0034 a0004c0009t0001g0135 a0004c0009t0005g0040	47	260	0.1808	0	c.424 others(5): Show c.424+5G>C		ALG1L2	ENSG00000251287.9	transcript	ENST00000425059.1	protein_coding	5/7						chr3	TogoVar
ALG1L2_chr3_130076831_130103390	130096171	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	260	0.0038	0	c.539 others(5): Show c.539+8C>G		ALG1L2	ENSG00000251287.9	transcript	ENST00000425059.1	protein_coding	6/7						chr3	TogoVar
ALG1_chr16_5066843_5092379	5078734	AGGCTTTT others(28): Show AGGCTTTTTTTCTGCTCCTTCAGCTCAGAACCTGAG	A A	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA19063.hp1 NA19063.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0003 a0009c0016t0003	a0009c0016t0003g0096 a0009c0016t0003g0096	1	442	0.0023	-35	c.741 others(45): Show c.741-21_754delGCTTTTTTTCTGCTCCTTCAGCTCAGAACCTGAGG	p.Ser others(5): Show p.Ser248fs	ALG1	ENSG00000033011.14	transcript	ENST00000262374.10	protein_coding	7/13		741/1395	247/464		INFO_REALIGN_3_PRIME	chr16	TogoVar
ALG1_chr16_5066843_5092379	5083678	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18944.hp2 NA18951.hp2 NA18982.hp1 NA18944.hp2 NA18951.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0121 a0001c0001t0001g0040 a0001c0001t0001g0121	3	442	0.0068	0	c.118 others(6): Show c.1188-4G>A		ALG1	ENSG00000033011.14	transcript	ENST00000262374.10	protein_coding	11/12						chr16	TogoVar
ALG3_chr3_184237301_184253962	184243634	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	338	0.0030	0	c.933 others(5): Show c.933-4C>T		ALG3	ENSG00000214160.10	transcript	ENST00000397676.8	protein_coding	6/8						chr3	TogoVar
ALG6_chr1_63362627_63443553	63407059	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	386	0.0026	0	c.430 others(5): Show c.430-3C>T		ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	6/14						chr1	TogoVar
ALG6_chr1_63362627_63443553	63411329	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03516.hp1 HG03516.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0020 a0005c0009t0020	a0005c0009t0020g0315 a0005c0009t0020g0315	1	386	0.0026	0	c.678 others(3): Show c.678G>T	p.Lys others(6): Show p.Lys226Asn	ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	8/15	946/3325	678/1524	226/507			chr1	TogoVar
ALG8_chr11_78095946_78144626	78106951	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01081.hp2 HG02647.hp2 HG02922.hp2 others(3): Show HG01081.hp2 HG02647.hp2 HG02922.hp2 HG03041.hp2 HG03130.hp1 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0104 a0001c0003t0001g0105 a0001c0003t0001g0110 others(3): Show a0001c0003t0001g0104 a0001c0003t0001g0105 a0001c0003t0001g0110 a0001c0003t0001g0111 a0001c0003t0001g0112 a0001c0003t0001g0113	6	400	0.0150	0	c.103 others(6): Show c.1039-5T>C		ALG8	ENSG00000159063.14	transcript	ENST00000299626.10	protein_coding	9/12						chr11	TogoVar
ALG8_chr11_78095946_78144626	78112642	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0192 a0002c0002t0001g0192	1	400	0.0025	0	c.898 others(5): Show c.898+8A>G		ALG8	ENSG00000159063.14	transcript	ENST00000299626.10	protein_coding	8/12						chr11	TogoVar
ALG8_chr11_78095946_78144626	78112652	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02451.hp1 HG02630.hp2 HG02809.hp1 others(2): Show HG02451.hp1 HG02630.hp2 HG02809.hp1 HG03098.hp1 HG03225.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0224 a0003c0004t0001g0226 a0003c0004t0001g0227 others(2): Show a0003c0004t0001g0224 a0003c0004t0001g0226 a0003c0004t0001g0227 a0003c0004t0001g0228 a0003c0004t0001g0244	5	400	0.0125	0	c.896 others(3): Show c.896T>C	p.Ile others(6): Show p.Ile299Thr	ALG8	ENSG00000159063.14	transcript	ENST00000299626.10	protein_coding	8/13	934/1637	896/1581	299/526			chr11	TogoVar
ALG9_chr11_111777195_111876581	111809772	A A	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00597.hp1 NA18968.hp2 NA18989.hp2 others(1): Show HG00597.hp1 NA18968.hp2 NA18989.hp2 NA19084.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0096 a0004c0004t0001g0097 a0004c0004t0001g0098 others(1): Show a0004c0004t0001g0096 a0004c0004t0001g0097 a0004c0004t0001g0098 a0004c0004t0001g0099	4	312	0.0128	0	c.160 others(4): Show c.1604T>G	p.Ile others(6): Show p.Ile535Ser	ALG9	ENSG00000086848.15	transcript	ENST00000616540.5	protein_coding	14/15	1703/6158	1604/1857	535/618			chr11	TogoVar
ALG9_chr11_111777195_111876581	111865258	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0273 a0001c0001t0003g0273	1	312	0.0032	0	c.406 others(5): Show c.406-7C>T		ALG9	ENSG00000086848.15	transcript	ENST00000616540.5	protein_coding	3/14						chr11	TogoVar
ALG9_chr11_111777195_111876581	111868594	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	2	312	0.0064	0	c.405 others(5): Show c.405+8C>A		ALG9	ENSG00000086848.15	transcript	ENST00000616540.5	protein_coding	3/14						chr11	TogoVar
ALG9_chr11_111777195_111876581	111871347	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0011 a0002c0002t0021g0011	1	312	0.0032	0	c.131 others(5): Show c.131+5G>A		ALG9	ENSG00000086848.15	transcript	ENST00000616540.5	protein_coding	1/14						chr11	TogoVar
ALKAL2_chr2_274558_293091	283180	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02559.hp1 HG02572.hp2 HG02615.hp2 others(3): Show HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02723.hp1 HG03098.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0014 a0001c0001t0001g0051 a0001c0002t0001g0093 others(1): Show a0001c0001t0001g0014 a0001c0001t0001g0051 a0001c0002t0001g0093 a0001c0002t0001g0094	6	414	0.0145	0	c.389 others(5): Show c.389-5C>T		ALKAL2	ENSG00000189292.17	transcript	ENST00000403610.9	protein_coding	4/5						chr2	TogoVar
ALKBH1_chr14_77667404_77713023	77707818	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0273	1	358	0.0028	0	c.183 others(5): Show c.183+4C>G		ALKBH1	ENSG00000100601.10	transcript	ENST00000216489.8	protein_coding	1/5						chr14	TogoVar
ALKBH2_chr12_109083189_109098472	109088516	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	468	0.0021	0	c.480 others(5): Show c.480-4G>A		ALKBH2	ENSG00000189046.11	transcript	ENST00000429722.3	protein_coding	3/3						chr12	TogoVar
ALKBH2_chr12_109083189_109098472	109090213	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00544.hp2 HG01516.hp1 others(46): Show HG00099.hp2 HG00544.hp2 HG01516.hp1 HG01517.hp2 HG02071.hp2 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02451.hp2 HG02738.hp2 HG04228.hp2 NA18747.hp1 NA18940.hp1 NA18941.hp2 NA18943.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18953.hp1 NA18954.hp2 NA18964.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18997.hp1 NA18998.hp1 NA19001.hp1 NA19001.hp2 NA19012.hp2 NA19054.hp1 NA19064.hp2 NA19067.hp2 NA19070.hp2 NA19074.hp2 NA19079.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0039 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0039	49	468	0.1047	0	c.281 others(5): Show c.281-6G>T		ALKBH2	ENSG00000189046.11	transcript	ENST00000429722.3	protein_coding	2/3						chr12	TogoVar
ALKBH2_chr12_109083189_109098472	109092924	TTTAAAAC others(24): Show TTTAAAACCATGTCCTAGAAAGGAAACAGAAG	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant splice_region_variant 5_prime_UTR_variant intron_variant	HIGH	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0035 a0001c0001t0005g0035	1	468	0.0021	-31	c.-15 others(43): Show c.-151-18_-139delCTTCTGTTTCCTTTCTAGGACATGGTTTTAA		ALKBH2	ENSG00000189046.11	transcript	ENST00000429722.3	protein_coding	2/4				139		chr12	TogoVar
ALKBH3_chr11_43875831_43925274	43883086	T T	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0191 a0001c0007t0005g0191	1	374	0.0027	0	c.81T others(2): Show c.81T>G	p.Ala others(5): Show p.Ala27Ala	ALKBH3	ENSG00000166199.13	transcript	ENST00000302708.9	protein_coding	3/10	500/1544	81/861	27/286			chr11	TogoVar
ALKBH3_chr11_43875831_43925274	43883196	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	374	0.0027	0	c.183 others(5): Show c.183+8C>G		ALKBH3	ENSG00000166199.13	transcript	ENST00000302708.9	protein_coding	3/9						chr11	TogoVar
ALKBH3_chr11_43875831_43925274	43892127	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02723.hp1 HG02723.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0171 a0005c0008t0001g0171	1	374	0.0027	0	c.457 others(3): Show c.457C>G	p.His others(6): Show p.His153Asp	ALKBH3	ENSG00000166199.13	transcript	ENST00000302708.9	protein_coding	7/10	876/1544	457/861	153/286			chr11	TogoVar
ALKBH6_chr19_36004120_36019213	36009121	A A	T T	splice_region_variant splice_region_variant	LOW	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	390	0.0026	0	c.16 others(4): Show c.169T>A		ALKBH6	ENSG00000239382.11	transcript	ENST00000378875.8	protein_coding	7/7						chr19	TogoVar
ALKBH6_chr19_36004120_36019213	36010886	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01256.hp2 HG01258.hp2 HG02145.hp1 others(9): Show HG01256.hp2 HG01258.hp2 HG02145.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02723.hp2 HG02896.hp2 HG02897.hp2 HG03540.hp1 NA18906.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	12	390	0.0308	0	c.336 others(5): Show c.336+8C>A		ALKBH6	ENSG00000239382.11	transcript	ENST00000378875.8	protein_coding	5/6						chr19	TogoVar
ALKBH8_chr11_107497727_107570735	107511039	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00408.hp2 HG00639.hp2 others(94): Show HG00099.hp1 HG00408.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01934.hp1 HG01943.hp1 HG02027.hp1 HG02040.hp2 HG02074.hp2 HG02132.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02300.hp1 HG02451.hp2 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02809.hp1 HG02886.hp2 HG02970.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp2 HG04204.hp2 HG04228.hp1 NA18939.hp1 NA18942.hp2 NA18943.hp1 NA18946.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18963.hp2 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18975.hp1 NA18981.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA19000.hp2 NA19005.hp1 NA19009.hp1 NA19012.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19075.hp2 NA19079.hp2 NA19240.hp2 NA20905.hp1 NA20905.hp2	a0001 a0010 a0011 a0001 a0010 a0011	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0019 a0010c0018 a0011c0022	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0001c0001t0020 a0001c0002t0001 a0001c0002t0005 a0001c0003t0001 a0001c0019t0005 a0010c0018t0001 a0011c0022t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 others(71): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0049 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0001g0114 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0262 a0001c0001t0001g0315 a0001c0001t0005g0166 a0001c0001t0005g0172 a0001c0001t0012g0147 a0001c0001t0012g0149 a0001c0001t0020g0319 a0001c0002t0001g0078 a0001c0002t0005g0133 a0001c0003t0001g0215 a0001c0019t0005g0156 a0010c0018t0001g0139 a0011c0022t0001g0175	97	398	0.2437	0	c.128 others(6): Show c.1288-3C>T		ALKBH8	ENSG00000137760.15	transcript	ENST00000428149.7	protein_coding	10/11						chr11	TogoVar
ALKBH8_chr11_107497727_107570735	107551809	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02818.hp1 HG02886.hp1 HG02922.hp1 others(1): Show HG02818.hp1 HG02886.hp1 HG02922.hp1 NA19240.hp1	a0012 a0013 a0014 others(1): Show a0012 a0013 a0014 a0016	a0012c0021 a0013c0020 a0014c0014 others(1): Show a0012c0021 a0013c0020 a0014c0014 a0016c0015	a0012c0021t0001 a0013c0020t0009 a0014c0014t0001 others(1): Show a0012c0021t0001 a0013c0020t0009 a0014c0014t0001 a0016c0015t0003	a0012c0021t0001g0199 a0013c0020t0009g0310 a0014c0014t0001g0192 others(1): Show a0012c0021t0001g0199 a0013c0020t0009g0310 a0014c0014t0001g0192 a0016c0015t0003g0193	4	398	0.0101	0	c.699 others(3): Show c.699A>C	p.Gln others(6): Show p.Gln233His	ALKBH8	ENSG00000137760.15	transcript	ENST00000428149.7	protein_coding	6/12	840/4067	699/1995	233/664			chr11	TogoVar
ALKBH8_chr11_107497727_107570735	107553983	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp1 HG03098.hp2 NA20300.hp1 HG02145.hp1 HG03098.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0010 a0001c0002t0003 a0001c0002t0010	a0001c0002t0003g0126 a0001c0002t0003g0127 a0001c0002t0010g0128 a0001c0002t0003g0126 a0001c0002t0003g0127 a0001c0002t0010g0128	3	398	0.0075	0	c.368 others(5): Show c.368-5C>T		ALKBH8	ENSG00000137760.15	transcript	ENST00000428149.7	protein_coding	3/11						chr11	TogoVar

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