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
CROCC2_chr2_240901336_240998311	240923627	G G	GTCCCCAC others(306): Show GTCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACC CAGTCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAA CCCAGTCCCCCACACTAACCCGGCCCCCACACTGACCCGGCCCCCACACT GACCCGGCCCCCCACACTGACCCGGCCCCCACACTAACCCGGCCCCCCAC ACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTGACCCGGCCCCC ACACTAACCCAGCCCCCACACTAACCCAGCCCCCACACTGACCCAGCCCC CACACTAACCCAGC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02129.hp1 HG02155.hp1 others(1): Show HG02015.hp1 HG02129.hp1 HG02155.hp1 NA19004.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0120 a0001c0002t0001g0151 a0001c0002t0001g0152 others(1): Show a0001c0002t0001g0120 a0001c0002t0001g0151 a0001c0002t0001g0152 a0002c0001t0001g0156	4	350	0.0114	313	c.488 others(328): Show c.488+982_488+983insTCCCCACACTAACCCAGCCCCCACACTAAC CCGGCCCCCCACACTAACCCAGTCCCCCACACTAACCCAGTCCCCACACT AACCCAGTCCCCACACTAACCCAGTCCCCCACACTAACCCGGCCCCCACA CTGACCCGGCCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCCCCA CACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCC CCACACTGACCCGGCCCCCACACTAACCCAGCCCCCACACTAACCCAGCC CCCACACTGACCCAGCCCCCACACTAACCCAGC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923627	G G	GTCCCCAC others(306): Show GTCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACC CAGTCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAA CCCAGTCCCCCACACTAACCCGGCCCCCACACTGACCCGGCCCCCACACT GACCCGGCCCCCCACACTGACCCGGCCCCCACACTAACCCGGCCCCCCAC ACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTGACCCGGCCCCC ACACTGACCCAGCCCCCACACTAACCCAGCCCCCACACTGACCCAGCCCC CACACTAACCCAGC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp1 HG02976.hp1 HG02451.hp1 HG02486.hp1 HG02976.hp1	a0012 a0015 a0012 a0015	a0012c0023 a0015c0097 a0012c0023 a0015c0097	a0012c0023t0001 a0012c0023t0008 a0015c0097t0001 a0012c0023t0001 a0012c0023t0008 a0015c0097t0001	a0012c0023t0001g0114 a0012c0023t0008g0110 a0015c0097t0001g0113 a0012c0023t0001g0114 a0012c0023t0008g0110 a0015c0097t0001g0113	3	350	0.0086	313	c.488 others(328): Show c.488+982_488+983insTCCCCACACTAACCCAGCCCCCACACTAAC CCGGCCCCCCACACTAACCCAGTCCCCCACACTAACCCAGTCCCCACACT AACCCAGTCCCCACACTAACCCAGTCCCCCACACTAACCCGGCCCCCACA CTGACCCGGCCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCCCCA CACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCC CCACACTGACCCGGCCCCCACACTGACCCAGCCCCCACACTAACCCAGCC CCCACACTGACCCAGCCCCCACACTAACCCAGC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924097	C C	CCCCCACA others(306): Show CCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCC GGCCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCCCACACTAACC CGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACACT AACCCGGCCCCCCACACTAACCCAGCCCCCACACTGACCCGGCCCCCCAC ACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCA CACTAATCCGGCCCCCACACTAACCCGGCCCCTCACACTAACCCGGCCCC CCACACTAACCCAG	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0003 a0006c0007t0003	a0006c0007t0003g0209 a0006c0007t0003g0209	1	350	0.0029	313	c.488 others(330): Show c.488+1456_488+1457insACACTAACCCGGCCCCCACACTAACCCG GCCCCCCACACTAACCCGGCCCCCACACTAATCCGGCCCCCACACTAACC CGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTA ACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACA CTGACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCA CACTAACCCGGCCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCCT CACACTAACCCGGCCCCCCACACTAACCCAGCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924097	C C	CCCCCACA others(306): Show CCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCC GGCCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCCCACACTAACC CGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACACT AACCCGGCCCCCCACACTAACCCAGCCCCCACACTGACCCGGCCCCCCAC ACTGACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCA CACTAATCCGGCCCCCACACTAACCCGGCCCCTCACACTAACCCGGCCCC CCACACTAACCCAG	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0094 a0006c0007t0001g0094	1	350	0.0029	313	c.488 others(330): Show c.488+1456_488+1457insACACTAACCCGGCCCCCACACTAACCCG GCCCCCCACACTAACCCGGCCCCCACACTAATCCGGCCCCCACACTAACC CGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTA ACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACA CTGACCCGGCCCCCCACACTGACCCAGTCCCCACACTAACCCAGTCCCCA CACTAACCCGGCCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCCT CACACTAACCCGGCCCCCCACACTAACCCAGCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRYBG1_chr6_106355717_106577017	106365679	T T	TATTTTTT others(306): Show TATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01169.hp1 NA20129.hp2 HG01169.hp1 NA20129.hp2	a0002 a0005 a0002 a0005	a0002c0003 a0005c0008 a0002c0003 a0005c0008	a0002c0003t0006 a0005c0008t0003 a0002c0003t0006 a0005c0008t0003	a0002c0003t0006g0052 a0005c0008t0003g0051 a0002c0003t0006g0052 a0005c0008t0003g0051	2	272	0.0074	313	c.173 others(330): Show c.173+4608_173+4609insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCATGAGCCACCGCGCCCGGCCATTTTTTTTT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CYTIP_chr2_157409619_157449089	157423466	T T	TAAAAAAA others(306): Show TAAAAAAAAACCAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTGGCGGACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0278 a0001c0001t0007g0278	1	320	0.0031	313	c.546 others(330): Show c.546+3884_546+3885insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGTCCGCCACCACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTCTGGTTTTTTTTT	CYTIP	ENSG00000115165.10	transcript	ENST00000264192.8	protein_coding	6/7			chr2	TogoVar
DBX2_chr12_45009672_45056099	45025761	T T	TAGAAAGA others(306): Show TAGAAAGATCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAACACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01978.hp1 HG02148.hp2 others(5): Show HG01361.hp1 HG01978.hp1 HG02148.hp2 HG02280.hp2 HG02683.hp2 HG02809.hp1 HG03017.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 others(5): Show a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0005g0098	8	416	0.0192	313	c.500 others(330): Show c.500-1868_500-1867insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCCAGATCTTTCT	DBX2	ENSG00000185610.6	transcript	ENST00000332700.6	protein_coding	2/3			chr12	TogoVar
DDR2_chr1_162627464_162792405	162791518	G G	GCATTTGG others(306): Show GCATTTGGCATTTTTTTTTTTTTTTTTTTTGGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCGGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0043 a0001c0007t0043	a0001c0007t0043g0076 a0001c0007t0043g0076	1	302	0.0033	313	c.11 others(326): Show c.11272_*11273insCATTTGGCATTTTTTTTTTTTTTTTTTTTGGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCGGG GATTACAGGCGTGAGCCACCGCGCCCGGCCA	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding		4114		chr1	TogoVar
DENND2B_chr11_8688352_8815674	8810806	G G	GTCTCTCT others(306): Show GTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0221 a0001c0001t0003g0221	1	352	0.0028	313	c.-31 others(322): Show c.-316_-315insGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGAGA GAGAGAGAGAGGAGAGAGAGAGAGAGA	DENND2B	ENSG00000166444.19	transcript	ENST00000313726.11	protein_coding		133		chr11	TogoVar
DHRS4_chr14_23948770_23974279	23952287	G G	GAAATCCT others(306): Show GAAATCCTTGTTTTTTTTCTTTTTGTTGAGACAGAGTCTCCGTCTGTCGC TCAGGTTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCGCATC CCGTGTTCATGCCATTCCCCTGCCTCAGCCTCCAGAGTAGCTGGGACTAC AGGCAAGTACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGGGACG AGTTTCACCGTGTTAGCCAGGATGGACTTGATCTCCTGACCCCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCCACCACGC CCAGCTGAATGTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0011 a0011	a0011c0027 a0011c0027	a0011c0027t0014 a0011c0027t0014	a0011c0027t0014g0191 a0011c0027t0014g0191	1	267	0.0038	313	c.-15 others(324): Show c.-1502_-1501insAAATCCTTGTTTTTTTTCTTTTTGTTGAGACAGA GTCTCCGTCTGTCGCTCAGGTTGGAGTGCAGTGGCGTGATCTTGGCTCAC TGCAAGCTCCGCATCCCGTGTTCATGCCATTCCCCTGCCTCAGCCTCCAG AGTAGCTGGGACTACAGGCAAGTACCACCACGCCCGGCTAATTTTTTGTA TTTTTAGTAGGGACGAGTTTCACCGTGTTAGCCAGGATGGACTTGATCTC CTGACCCCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GGTGAGCCACCACGCCCAGCTGAATGTCC	DHRS4	ENSG00000157326.19	transcript	ENST00000313250.10	protein_coding		1482		chr14	TogoVar
DOCK1_chr10_126900428_127457516	127392028	A A	AGCATCTG others(306): Show AGCATCTGGCCTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC ATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0035 a0002c0035	a0002c0035t0003 a0002c0035t0003	a0002c0035t0003g0053 a0002c0035t0003g0053	1	136	0.0074	313	c.392 others(332): Show c.3927+7133_3927+7134insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCGCATCTGGCCTTCT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	38/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	127392028	A A	AGCATCTG others(306): Show AGCATCTGGCCTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01192.hp2 others(19): Show HG00741.hp1 HG00741.hp2 HG01192.hp2 HG01261.hp1 HG01261.hp2 HG02257.hp2 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG03041.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03704.hp1 NA18747.hp2 NA19090.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0004 a0001c0006 others(18): Show a0001c0001 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0040 a0001c0049 a0001c0064 a0002c0017 a0002c0023 a0002c0062 a0002c0070 a0003c0031 a0003c0046 a0003c0048 a0004c0013 a0004c0020 a0004c0032 a0004c0051	a0001c0001t0002 a0001c0004t0002 a0001c0006t0001 others(19): Show a0001c0001t0002 a0001c0004t0002 a0001c0006t0001 a0001c0007t0001 a0001c0008t0002 a0001c0009t0002 a0001c0011t0001 a0001c0040t0001 a0001c0049t0002 a0001c0064t0001 a0002c0017t0002 a0002c0017t0005 a0002c0023t0001 a0002c0062t0001 a0002c0070t0002 a0003c0031t0009 a0003c0046t0013 a0003c0048t0003 a0004c0013t0003 a0004c0020t0003 a0004c0032t0004 a0004c0051t0003	a0001c0001t0002g0128 a0001c0004t0002g0120 a0001c0006t0001g0102 others(19): Show a0001c0001t0002g0128 a0001c0004t0002g0120 a0001c0006t0001g0102 a0001c0007t0001g0105 a0001c0008t0002g0089 a0001c0009t0002g0049 a0001c0011t0001g0048 a0001c0040t0001g0010 a0001c0049t0002g0017 a0001c0064t0001g0055 a0002c0017t0002g0136 a0002c0017t0005g0101 a0002c0023t0001g0082 a0002c0062t0001g0016 a0002c0070t0002g0094 a0003c0031t0009g0124 a0003c0046t0013g0043 a0003c0048t0003g0063 a0004c0013t0003g0036 a0004c0020t0003g0033 a0004c0032t0004g0106 a0004c0051t0003g0026	22	136	0.1618	313	c.392 others(332): Show c.3927+7133_3927+7134insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCGCATCTGGCCTTCT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	38/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK5_chr8_25179689_25420711	25315130	A A	AATATAAA others(306): Show AATATAAAAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC AGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02647.hp1 HG01167.hp2 HG01169.hp2 HG02647.hp1	a0003 a0003	a0003c0019 a0003c0025 a0003c0019 a0003c0025	a0003c0019t0021 a0003c0025t0066 a0003c0025t0067 a0003c0019t0021 a0003c0025t0066 a0003c0025t0067	a0003c0019t0021g0206 a0003c0025t0066g0014 a0003c0025t0067g0013 a0003c0019t0021g0206 a0003c0025t0066g0014 a0003c0025t0067g0013	3	210	0.0143	313	c.131 others(332): Show c.1319-1873_1319-1872insAAAAATTCTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTG CAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAC TACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGT TTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGG CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATAT	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	13/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK8_chr9_209865_470255	256804	T T	TGAGGGCA others(306): Show TGAGGGCAGAGGCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0014 a0014	a0014c0018 a0014c0018	a0014c0018t0002 a0014c0018t0002	a0014c0018t0002g0007 a0014c0018t0002g0007	1	256	0.0039	313	c.54- others(330): Show c.54-14807_54-14806insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCGAGGGCAGAGGCTTTT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOK6_chr18_69395888_69854087	69492816	T T	TTGGTGGG others(306): Show TTGGTGGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC ATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01106.hp1 HG01496.hp1 others(9): Show HG01071.hp1 HG01106.hp1 HG01496.hp1 HG01517.hp2 HG02615.hp2 HG02738.hp2 HG03471.hp1 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03688.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0013 a0001c0001t0058 others(8): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0058 a0001c0001t0072 a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 a0001c0002t0010 a0001c0002t0011 a0001c0003t0010 a0001c0003t0027	a0001c0001t0001g0071 a0001c0001t0013g0069 a0001c0001t0058g0025 others(9): Show a0001c0001t0001g0071 a0001c0001t0013g0069 a0001c0001t0058g0025 a0001c0001t0072g0073 a0001c0002t0001g0072 a0001c0002t0001g0075 a0001c0002t0003g0122 a0001c0002t0008g0070 a0001c0002t0010g0068 a0001c0002t0011g0074 a0001c0003t0010g0066 a0001c0003t0027g0030	12	170	0.0706	313	c.67- others(330): Show c.67-71657_67-71656insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTGGTGGGCTTTTTT	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69492816	T T	TTGGTGGG others(306): Show TTGGTGGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	170	0.0059	313	c.67- others(330): Show c.67-71657_67-71656insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTGGTGGGCTTTTTT	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DPY19L4_chr8_94714900_94798836	94782492	T T	TTACTGTG others(306): Show TTACTGTGGCCATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCT GTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCC GCCCCCTGGGGTTTACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01261.hp2 HG01884.hp2 others(8): Show HG01257.hp2 HG01261.hp2 HG01884.hp2 HG02055.hp1 HG02109.hp2 HG02280.hp1 HG02622.hp1 HG02895.hp1 HG03098.hp2 HG03471.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0003 a0001c0001 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0006t0001 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0006t0001 a0002c0003t0004 a0002c0003t0026 a0002c0003t0027	a0001c0001t0001g0033 a0001c0001t0004g0162 a0001c0001t0004g0163 others(8): Show a0001c0001t0001g0033 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0006t0001g0020 a0001c0006t0001g0021 a0002c0003t0004g0166 a0002c0003t0004g0167 a0002c0003t0004g0168 a0002c0003t0026g0165 a0002c0003t0027g0207	11	290	0.0379	313	c.171 others(332): Show c.1716-1162_1716-1161insTTTTTTTTTTTTTTTTTGAGACAGAG TCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AGGCTCCGCCCCCTGGGGTTTACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTACTGTGGCCATTTTT	DPY19L4	ENSG00000156162.16	transcript	ENST00000414645.6	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
EFCAB2_chr1_244964682_245092837	245012486	T T	TGAAAGAT others(306): Show TGAAAGATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCACCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCATTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp1 HG03516.hp2 HG02055.hp1 HG02486.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0138 a0001c0001t0001g0277 a0001c0002t0002g0274 a0001c0001t0001g0138 a0001c0001t0001g0277 a0001c0002t0002g0274	3	290	0.0103	313	c.26- others(328): Show c.26-4746_26-4745insTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCACCCGCCACTACGCCCGGCTAATTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCATTTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCGAAAGATTTT	EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
EGF_chr4_109907883_110018766	110013803	G G	GCCTTGAT others(306): Show GCCTTGATTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0275 a0004c0004t0003g0275	1	388	0.0026	313	c.23 others(324): Show c.2348_*2349insCCTTGATTTCTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGC	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding		38		chr4	TogoVar
EIPR1_chr2_3183970_3382818	3315169	C C	CCACCACC others(306): Show CCACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCCC CATCCACAGCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCC TACCACCACCATCACCACCATCCCCATCCACACCCCCACCACCATCCTCA CCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCAT CCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTAC CACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCCATCCA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	250	0.0040	313	c.259 others(332): Show c.259+22847_259+22848insTGGATGGGGATGGTGGTGATGGTGGT GGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTG GATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTG GTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGG TGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGAT GGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTG ATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ENY2_chr8_109329347_109350954	109337068	T T	TCATTTAA others(306): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCAC CACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGC CTCCCAAAGTGCTG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	428	0.0023	313	c.83+ others(326): Show c.83+877_83+878insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG AGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCG CCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCT CGGCCTCCCAAAGTGCTGCATTTAAAGTTTT	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
EPB41_chr1_28909569_29125041	28994950	G G	GCACCCAG others(306): Show GCACCCAGCCTTATTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGAGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18989.hp1 HG03704.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0143 a0001c0001t0011g0148 a0001c0001t0002g0143 a0001c0001t0011g0148	2	312	0.0064	313	c.681 others(330): Show c.681+1426_681+1427insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGAGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCACCCAGCCTTATTTCTT	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28994950	G G	GCACCCAG others(306): Show GCACCCAGCCTTATTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGAGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0142 a0001c0001t0015g0142	1	312	0.0032	313	c.681 others(330): Show c.681+1426_681+1427insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGAGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCACCCAGCCTTATTTCTT	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	29100313	C C	CAAAAAAA others(306): Show CAAAAAAATTAGCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAT TAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0121 a0001c0001t0005g0121	1	312	0.0032	313	c.231 others(332): Show c.2313+2395_2313+2396insCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAAAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GTCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	29100313	C C	CAAAAAAA others(306): Show CAAAAAAATTAGCTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAA TTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGA GATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	312	0.0032	313	c.231 others(332): Show c.2313+2394_2313+2395insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGTCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAATTAGCTGGG	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHA5_chr4_65314567_65675489	65381092	T T	TAGAAAGT others(306): Show TAGAAAGTTTTTAAGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTG CAGTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0054 a0001c0006t0054	a0001c0006t0054g0172 a0001c0006t0054g0172	1	234	0.0043	313	c.179 others(334): Show c.1794-13669_1794-13668insTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCCACTTAAAAACTTTCT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	8/16			chr4	TogoVar
EPHA8_chr1_22558489_22608595	22599868	G G	GGAAGGAA others(306): Show GGAAGGAAGGAAGGAGGGAAGGAGGGAGGGAAGGAGAGAAGGAGGGAGGG AGTAGGGGAGGAAGGGAGGGAGAGGGAGGAAGGAAGGGGGAAGGAGGAAG AAAGGAGGGAGGGAAGGCGGGAAGGAAGGGGGGAGGGAGGAAGGAAGAGG GAAATGAGGGAAGGAAGGTGGAAAGGAAGGAAGGAGGGAAGGGGAGAGAA GGGGGGAGGGGAGGGAAGGAGAGAAGGAATGAGGGAGGGAGTGGGGGAGG AAGGAAGGAAGGAAGGAGAGGAGGAGGAAAGGAGGGATGGAGGGAAGGAA GGAGGGAAGGGAGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0040 a0040	a0040c0027 a0040c0027	a0040c0027t0046 a0040c0027t0046	a0040c0027t0046g0175 a0040c0027t0046g0175	1	342	0.0029	313	c.238 others(330): Show c.2389-787_2389-786insAGGAAGGAGGGAAGGAGGGAGGGAAGGA GAGAAGGAGGGAGGGAGTAGGGGAGGAAGGGAGGGAGAGGGAGGAAGGAA GGGGGAAGGAGGAAGAAAGGAGGGAGGGAAGGCGGGAAGGAAGGGGGGAG GGAGGAAGGAAGAGGGAAATGAGGGAAGGAAGGTGGAAAGGAAGGAAGGA GGGAAGGGGAGAGAAGGGGGGAGGGGAGGGAAGGAGAGAAGGAATGAGGG AGGGAGTGGGGGAGGAAGGAAGGAAGGAAGGAGAGGAGGAGGAAAGGAGG GATGGAGGGAAGGAAGGAGGGAAGGGAGAGAAGGA	EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
ERCC6L2_chr9_95870691_96023447	95934454	A A	ATGTGATT others(306): Show ATGTGATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTGGCCCAG GTGGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCAG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTTTTTTTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00673.hp2 others(65): Show HG00323.hp2 HG00423.hp1 HG00673.hp2 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01256.hp2 HG01257.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01943.hp1 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02109.hp1 HG02145.hp2 HG02165.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02602.hp1 HG02735.hp2 HG02922.hp1 HG02976.hp2 HG03017.hp2 HG03453.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG03834.hp2 HG03927.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18944.hp1 NA18954.hp2 NA18966.hp1 NA18970.hp2 NA18971.hp2 NA18977.hp1 NA18985.hp2 NA18987.hp2 NA18990.hp1 NA19000.hp2 NA19001.hp1 NA19004.hp2 NA19005.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19074.hp2 NA19078.hp2 NA19081.hp2 NA19087.hp2 NA19090.hp2 NA19091.hp2 NA20905.hp2 NA21309.hp2	a0002 a0014 a0017 others(4): Show a0002 a0014 a0017 a0019 a0024 a0026 a0027	a0002c0002 a0002c0020 a0014c0023 others(5): Show a0002c0002 a0002c0020 a0014c0023 a0017c0018 a0019c0022 a0024c0019 a0026c0021 a0027c0025	a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 others(14): Show a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 a0002c0002t0028 a0002c0002t0029 a0002c0002t0030 a0002c0002t0035 a0002c0002t0048 a0002c0002t0051 a0002c0002t0093 a0002c0020t0035 a0014c0023t0006 a0017c0018t0059 a0019c0022t0003 a0024c0019t0016 a0026c0021t0044 a0027c0025t0049	a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0014 others(63): Show a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0014 a0002c0002t0003g0255 a0002c0002t0003g0308 a0002c0002t0003g0310 a0002c0002t0003g0311 a0002c0002t0003g0312 a0002c0002t0003g0313 a0002c0002t0003g0315 a0002c0002t0003g0316 a0002c0002t0003g0317 a0002c0002t0003g0318 a0002c0002t0003g0320 a0002c0002t0003g0323 a0002c0002t0003g0330 a0002c0002t0003g0331 a0002c0002t0003g0333 a0002c0002t0003g0335 a0002c0002t0003g0342 a0002c0002t0003g0344 a0002c0002t0003g0345 a0002c0002t0003g0347 a0002c0002t0003g0348 a0002c0002t0003g0349 a0002c0002t0003g0350 a0002c0002t0003g0351 a0002c0002t0003g0352 a0002c0002t0003g0353 a0002c0002t0003g0354 a0002c0002t0003g0355 a0002c0002t0003g0357 a0002c0002t0003g0358 a0002c0002t0003g0360 a0002c0002t0006g0011 a0002c0002t0006g0306 a0002c0002t0006g0319 a0002c0002t0006g0321 a0002c0002t0006g0324 a0002c0002t0006g0334 a0002c0002t0006g0343 a0002c0002t0006g0359 a0002c0002t0006g0367 a0002c0002t0007g0012 a0002c0002t0007g0013 a0002c0002t0007g0307 a0002c0002t0007g0327 a0002c0002t0007g0328 a0002c0002t0007g0332 a0002c0002t0028g0329 a0002c0002t0028g0368 a0002c0002t0029g0362 a0002c0002t0029g0364 a0002c0002t0030g0361 a0002c0002t0030g0363 a0002c0002t0035g0085 a0002c0002t0048g0325 a0002c0002t0051g0314 a0002c0002t0093g0304 a0002c0020t0035g0086 a0014c0023t0006g0309 a0017c0018t0059g0336 a0019c0022t0003g0196 a0024c0019t0016g0326 a0026c0021t0044g0322 a0027c0025t0049g0346	68	392	0.1735	313	c.175 others(332): Show c.1751+5600_1751+5601insTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTGGCCCAGGTGGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTT TTTTTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAAGCGTGAGCCACCGCGCCCGGCCTGTGATTTTT	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERP44_chr9_99974185_100104000	100087012	T T	TAAAAAAA others(306): Show TAAAAAAAAAAACTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0089 a0001c0001t0003g0089	1	220	0.0046	313	c.57+ others(330): Show c.57+11771_57+11772insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCAAAGTTTTTTTTTTT	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	1/11			chr9	TogoVar
ESCO2_chr8_27769554_27810316	27781262	A A	AGCAGCTC others(306): Show AGCAGCTCAGACTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGACCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03139.hp1 HG03471.hp1 HG02630.hp2 HG03139.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0047 a0001c0001t0003 a0001c0001t0047	a0001c0001t0003g0030 a0001c0001t0047g0104 a0001c0001t0003g0030 a0001c0001t0047g0104	3	380	0.0079	313	c.955 others(330): Show c.955+1010_955+1011insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGACCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCGCAGCTCAGACTTTC	ESCO2	ENSG00000171320.15	transcript	ENST00000305188.13	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESYT2_chr7_158725997_158834509	158730508	G G	GTCAAGGA others(306): Show GTCAAGGAGAAAGGAAGTGCCCGGTGGTGAAATGCCGAGAATCAAGGAGA AAGGAAGTGCCCGGTGTGAAATGCCGAGAATCAAGGAGAAAGGAAGTGCC CGGTGCGAAATGCCCACAGTCAAGGAGAAAGGAAGTGCCCGGTGTCAAAG GCCCACAGTCAAGGAGAAAGGAAGTGCCCGGTGTGAAATGCCGAGAATCA AGGAGAAAGGAAGTGCCCGGTGTGAAATGCCGAGAATCAAGGAGAAAGGA AGTGCCCGGTGCGAAATGCCCACAGTCAAGGAGAAAGGAAGTGCCCAGTG TGAAATGCCGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	370	0.0027	313	c.36 others(324): Show c.3698_*3699insTTCTCGGCATTTCACACTGGGCACTTCCTTTCTC CTTGACTGTGGGCATTTCGCACCGGGCACTTCCTTTCTCCTTGATTCTCG GCATTTCACACCGGGCACTTCCTTTCTCCTTGATTCTCGGCATTTCACAC CGGGCACTTCCTTTCTCCTTGACTGTGGGCCTTTGACACCGGGCACTTCC TTTCTCCTTGACTGTGGGCATTTCGCACCGGGCACTTCCTTTCTCCTTGA TTCTCGGCATTTCACACCGGGCACTTCCTTTCTCCTTGATTCTCGGCATT TCACCACCGGGCACTTCCTTTCTCCTTGA	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		488		chr7	TogoVar
EXD3_chr9_137301896_137428162	137350578	C C	CTAGATAG others(306): Show CTAGATAGAGAGGGGTGGGGATTACGGGGAGGGGTTAGATAGAGAGGGGT GGGGATCACGGGGAGGGTTCTAGATAGAGAGGGGTGGGGATCACGGGGAG GGTTCTAGATAGAGAGGGGTGGGGATCACAAGGAGGGGGCTAGATAGAGA GGGGTGGGGATCACGGGGAGGGTTCTAGATAGAGAGGGGTGGGGATCACG GGGAAGGTTCTAGATAGAGAGGGGTGGGGATCACGGGAAAGGTTCTAGAT AGAGAGGGGTGGGGATCACGGGGAAGGTGCTAGATAGAGAGGGGTGGGGA TTACGGGGAGGGGT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0026 a0026	a0026c0013 a0026c0013	a0026c0013t0001 a0026c0013t0001	a0026c0013t0001g0074 a0026c0013t0001g0074	1	82	0.0122	313	c.149 others(330): Show c.1494+459_1494+460insACCCCTCCCCGTAATCCCCACCCCTCTC TATCTAGCACCTTCCCCGTGATCCCCACCCCTCTCTATCTAGAACCTTTC CCGTGATCCCCACCCCTCTCTATCTAGAACCTTCCCCGTGATCCCCACCC CTCTCTATCTAGAACCCTCCCCGTGATCCCCACCCCTCTCTATCTAGCCC CCTCCTTGTGATCCCCACCCCTCTCTATCTAGAACCCTCCCCGTGATCCC CACCCCTCTCTATCTAGAACCCTCCCCGTGATCCCCACCCCTCTCTATCT AACCCCTCCCCGTAATCCCCACCCCTCTCTATCTA	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	14/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137350578	C C	CTAGATAG others(306): Show CTAGATAGAGAGGGGTGGGGATTACGGGGAGGGGTTAGATAGAGAGGGGT GGGGATCACGGGGAGGGTTCTAGATAGAGAGGGGTGGGGATCACGGGGAG GGTTCTAGATAGAGAGGGGTGGGGATCACAAGGAGGGGGCTAGATAGAGA GGGGTGGGGATCACGGGGAGGGTTCTAGATAGAGAGGGGTGGGGATCACG GGGAAGGTTCTAGATAGAGAGGGGTGGGGATCACGGGGAAGGTTCTAGAT AGAGAGGGGTGGGGATCACGGGGAAGGTGCTAGATAGAGAGGGGTGGGGA TTACGGGGAGGGGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00423.hp1 others(42): Show HG00099.hp1 HG00323.hp1 HG00423.hp1 HG01069.hp1 HG01069.hp2 HG01256.hp1 HG01258.hp1 HG01975.hp1 HG01993.hp1 HG01993.hp2 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02615.hp1 HG02647.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03669.hp1 HG03688.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18747.hp1 NA18951.hp1 NA18951.hp2 NA18999.hp1 NA18999.hp2 NA19007.hp1 NA19007.hp2 NA19043.hp2 NA19066.hp2	a0001 a0002 a0004 others(9): Show a0001 a0002 a0004 a0006 a0007 a0009 a0010 a0018 a0023 a0024 a0029 a0032	a0001c0001 a0001c0032 a0002c0002 others(10): Show a0001c0001 a0001c0032 a0002c0002 a0004c0009 a0006c0004 a0007c0008 a0009c0006 a0010c0011 a0018c0014 a0023c0031 a0024c0023 a0029c0016 a0032c0025	a0001c0001t0001 a0001c0001t0002 a0001c0032t0001 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0032t0001 a0002c0002t0001 a0004c0009t0001 a0006c0004t0001 a0007c0008t0001 a0009c0006t0001 a0010c0011t0001 a0018c0014t0001 a0023c0031t0001 a0024c0023t0001 a0029c0016t0001 a0032c0025t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0016 others(42): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0002g0001 a0001c0032t0001g0075 a0002c0002t0001g0011 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0036 a0002c0002t0001g0045 a0002c0002t0001g0048 a0002c0002t0001g0056 a0002c0002t0001g0076 a0002c0002t0001g0077 a0004c0009t0001g0014 a0004c0009t0001g0065 a0006c0004t0001g0018 a0006c0004t0001g0053 a0006c0004t0001g0066 a0007c0008t0001g0013 a0009c0006t0001g0008 a0009c0006t0001g0047 a0010c0011t0001g0006 a0010c0011t0001g0046 a0018c0014t0001g0072 a0023c0031t0001g0015 a0024c0023t0001g0049 a0029c0016t0001g0007 a0032c0025t0001g0033	45	82	0.5488	313	c.149 others(330): Show c.1494+459_1494+460insACCCCTCCCCGTAATCCCCACCCCTCTC TATCTAGCACCTTCCCCGTGATCCCCACCCCTCTCTATCTAGAACCTTCC CCGTGATCCCCACCCCTCTCTATCTAGAACCTTCCCCGTGATCCCCACCC CTCTCTATCTAGAACCCTCCCCGTGATCCCCACCCCTCTCTATCTAGCCC CCTCCTTGTGATCCCCACCCCTCTCTATCTAGAACCCTCCCCGTGATCCC CACCCCTCTCTATCTAGAACCCTCCCCGTGATCCCCACCCCTCTCTATCT AACCCCTCCCCGTAATCCCCACCCCTCTCTATCTA	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	14/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137350578	C C	CTAGATAG others(306): Show CTAGATAGAGAGGGGTGGGGATTACGGGGAGGGGTTAGATAGAGAGGGGT GGGGATCACGGGGAGGGTTCTAGATAGAGAGGGGTGGGGATCACGGGGAG GGTTCTAGATAGAGAGGGGTGGGGATCACAAGGAGGGGGCTAGATAGAGA GGGGTGGGGATCACGGGGAGGGTTCTAGATAGAGAGGGGTGGGGATCACG GGGAAGGTTCTAGATAGAGAGGGGTGGGGATCACGGGGAAGGTTCTAGAT AGAGAGGGGTGGGGATCACGGTGAAGGTGCTAGATAGAGAGGGGTGGGGA TTACGGGGAGGGGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02615.hp2 HG02896.hp2 HG01884.hp2 HG02615.hp2 HG02896.hp2	a0004 a0017 a0004 a0017	a0004c0007 a0017c0018 a0004c0007 a0017c0018	a0004c0007t0001 a0017c0018t0001 a0004c0007t0001 a0017c0018t0001	a0004c0007t0001g0002 a0004c0007t0001g0023 a0017c0018t0001g0022 a0004c0007t0001g0002 a0004c0007t0001g0023 a0017c0018t0001g0022	3	82	0.0366	313	c.149 others(330): Show c.1494+459_1494+460insACCCCTCCCCGTAATCCCCACCCCTCTC TATCTAGCACCTTCACCGTGATCCCCACCCCTCTCTATCTAGAACCTTCC CCGTGATCCCCACCCCTCTCTATCTAGAACCTTCCCCGTGATCCCCACCC CTCTCTATCTAGAACCCTCCCCGTGATCCCCACCCCTCTCTATCTAGCCC CCTCCTTGTGATCCCCACCCCTCTCTATCTAGAACCCTCCCCGTGATCCC CACCCCTCTCTATCTAGAACCCTCCCCGTGATCCCCACCCCTCTCTATCT AACCCCTCCCCGTAATCCCCACCCCTCTCTATCTA	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	14/21			chr9	TogoVar
FAF1_chr1_50432028_50965267	50446976	T T	TCCCTAAT others(306): Show TCCCTAATAATTTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACTGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA21309.hp2 HG02145.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0036 a0001c0001t0020 a0001c0001t0036	a0001c0001t0020g0117 a0001c0001t0036g0120 a0001c0001t0020g0117 a0001c0001t0036g0120	2	190	0.0105	313	c.187 others(332): Show c.1870-5454_1870-5453insGGCCGGGCGCAGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAGAAAATTATTAGGG	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	18/18			chr1	TogoVar
FAM135B_chr8_138125023_138502261	138313722	T T	TAAGATAC others(306): Show TAAGATACAAGCTACGGCCGGGCGCGGTGGCTCGTGCCTGTAATCCTAGC ACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCTTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAATACAAAAAATTA GCCGGGCGTGTTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAAAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03225.hp1 HG02723.hp2 HG03225.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0001 a0001c0004 a0003c0001	a0001c0004t0001 a0003c0001t0004 a0001c0004t0001 a0003c0001t0004	a0001c0004t0001g0021 a0003c0001t0004g0020 a0001c0004t0001g0021 a0003c0001t0004g0020	2	212	0.0094	313	c.78- others(328): Show c.78-2803_78-2802insTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCATGCCATTTTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCAACACGCCCGGCTAATTTTTTGTATTTT TAGTAGAAACGGGGTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTAGGATTACAGGCA CGAGCCACCGCGCCCGGCCGTAGCTTGTATCTT	FAM135B	ENSG00000147724.12	transcript	ENST00000395297.6	protein_coding	2/19			chr8	TogoVar
FAM135B_chr8_138125023_138502261	138313722	T T	TAAGATAC others(306): Show TAAGATACAAGCTACGGCCGGGCGCGGTGGCTCGTGCCTGTAATCCTAGC ACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCTTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAATACAAAAAATTA GCCGGGCGTGTTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(116): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18952.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18982.hp1 NA18994.hp2 NA19000.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0011 a0012 a0013	a0001c0003 a0001c0004 a0001c0005 others(21): Show a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0013 a0001c0015 a0001c0022 a0002c0002 a0002c0008 a0002c0019 a0002c0027 a0003c0001 a0003c0014 a0003c0020 a0004c0009 a0005c0011 a0006c0012 a0007c0029 a0008c0016 a0011c0024 a0012c0031 a0013c0026	a0001c0003t0003 a0001c0003t0010 a0001c0003t0018 others(48): Show a0001c0003t0003 a0001c0003t0010 a0001c0003t0018 a0001c0003t0038 a0001c0004t0001 a0001c0004t0002 a0001c0004t0008 a0001c0005t0001 a0001c0005t0002 a0001c0005t0005 a0001c0006t0005 a0001c0007t0001 a0001c0007t0003 a0001c0007t0040 a0001c0010t0011 a0001c0010t0034 a0001c0013t0002 a0001c0015t0008 a0001c0022t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0002t0032 a0002c0002t0037 a0002c0008t0001 a0002c0019t0015 a0002c0027t0003 a0003c0001t0002 a0003c0001t0004 a0003c0001t0006 a0003c0001t0007 a0003c0001t0009 a0003c0001t0013 a0003c0001t0014 a0003c0001t0019 a0003c0001t0021 a0003c0001t0022 a0003c0001t0023 a0003c0001t0028 a0003c0001t0031 a0003c0014t0002 a0003c0020t0004 a0004c0009t0002 a0005c0011t0016 a0006c0012t0002 a0007c0029t0001 a0008c0016t0008 a0011c0024t0001 a0012c0031t0002 a0013c0026t0001	a0001c0003t0003g0033 a0001c0003t0003g0056 a0001c0003t0003g0067 others(116): Show a0001c0003t0003g0033 a0001c0003t0003g0056 a0001c0003t0003g0067 a0001c0003t0003g0077 a0001c0003t0003g0083 a0001c0003t0003g0110 a0001c0003t0010g0206 a0001c0003t0010g0208 a0001c0003t0018g0168 a0001c0003t0038g0207 a0001c0004t0001g0030 a0001c0004t0001g0034 a0001c0004t0001g0071 a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0004t0001g0095 a0001c0004t0001g0101 a0001c0004t0001g0106 a0001c0004t0002g0147 a0001c0004t0002g0150 a0001c0004t0002g0156 a0001c0004t0002g0165 a0001c0004t0002g0181 a0001c0004t0002g0182 a0001c0004t0008g0128 a0001c0005t0001g0057 a0001c0005t0001g0069 a0001c0005t0001g0090 a0001c0005t0002g0136 a0001c0005t0002g0141 a0001c0005t0002g0151 a0001c0005t0002g0179 a0001c0005t0005g0200 a0001c0006t0005g0187 a0001c0006t0005g0211 a0001c0007t0001g0047 a0001c0007t0003g0044 a0001c0007t0003g0054 a0001c0007t0003g0065 a0001c0007t0040g0191 a0001c0010t0011g0118 a0001c0010t0034g0163 a0001c0013t0002g0137 a0001c0015t0008g0129 a0001c0022t0003g0011 a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0028 a0002c0002t0001g0036 a0002c0002t0001g0039 a0002c0002t0001g0046 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0053 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0070 a0002c0002t0001g0073 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0086 a0002c0002t0001g0089 a0002c0002t0001g0094 a0002c0002t0001g0099 a0002c0002t0001g0102 a0002c0002t0002g0132 a0002c0002t0002g0167 a0002c0002t0005g0194 a0002c0002t0005g0197 a0002c0002t0005g0202 a0002c0002t0005g0204 a0002c0002t0006g0135 a0002c0002t0032g0134 a0002c0002t0037g0201 a0002c0008t0001g0004 a0002c0008t0001g0031 a0002c0019t0015g0112 a0002c0027t0003g0097 a0003c0001t0002g0169 a0003c0001t0004g0012 a0003c0001t0004g0013 a0003c0001t0004g0018 a0003c0001t0004g0035 a0003c0001t0004g0062 a0003c0001t0004g0100 a0003c0001t0004g0104 a0003c0001t0006g0140 a0003c0001t0006g0155 a0003c0001t0006g0171 a0003c0001t0006g0176 a0003c0001t0007g0029 a0003c0001t0007g0037 a0003c0001t0007g0051 a0003c0001t0007g0093 a0003c0001t0007g0103 a0003c0001t0009g0175 a0003c0001t0009g0177 a0003c0001t0013g0190 a0003c0001t0014g0027 a0003c0001t0019g0138 a0003c0001t0021g0198 a0003c0001t0021g0212 a0003c0001t0022g0001 a0003c0001t0023g0024 a0003c0001t0028g0116 a0003c0001t0031g0126 a0003c0014t0002g0149 a0003c0020t0004g0076 a0004c0009t0002g0142 a0004c0009t0002g0145 a0005c0011t0016g0139 a0006c0012t0002g0170 a0007c0029t0001g0072 a0008c0016t0008g0127 a0011c0024t0001g0014 a0012c0031t0002g0166 a0013c0026t0001g0079	119	212	0.5613	313	c.78- others(328): Show c.78-2803_78-2802insTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCAACACGCCCGGCTAATTTTTTGTATTTT TAGTAGAAACGGGGTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTAGGATTACAGGCA CGAGCCACCGCGCCCGGCCGTAGCTTGTATCTT	FAM135B	ENSG00000147724.12	transcript	ENST00000395297.6	protein_coding	2/19			chr8	TogoVar
FAM135B_chr8_138125023_138502261	138313722	T T	TAAGATAC others(306): Show TAAGATACAAGCTACGGCCGGGCGCGGTGGCTCGTGCCTGTAATCCTAGC ACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCTTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAATACAAAAAATTA GCCGGGTGTGTTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0160 a0001c0005t0002g0160	1	212	0.0047	313	c.78- others(328): Show c.78-2803_78-2802insTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCAACACACCCGGCTAATTTTTTGTATTTT TAGTAGAAACGGGGTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTAGGATTACAGGCA CGAGCCACCGCGCCCGGCCGTAGCTTGTATCTT	FAM135B	ENSG00000147724.12	transcript	ENST00000395297.6	protein_coding	2/19			chr8	TogoVar
FAM171B_chr2_186689060_186770959	186753066	T T	TAAGAGCT others(306): Show TAAGAGCTATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCAGTA CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTT AGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCT CCCAAAGTGCTGGG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0173 a0002c0006t0001g0173	1	332	0.0030	313	c.896 others(328): Show c.896-855_896-854insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTG GAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCCAGTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCC TCGGCCTCCCAAAGTGCTGGGAAGAGCTATCTT	FAM171B	ENSG00000144369.14	transcript	ENST00000304698.10	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
FAM174B_chr15_92612448_92660775	92630835	A A	ACATATTA others(306): Show ACATATTATATATTACATATTACGTATTACATATTACATATTATATATTA CGTATTACGTATTACATATTACATATTATATATTACGTATTACGTATTAC ATATTACATATTATATATTACGTATTACGTATTACATATTACATATTATA TATTACGTATTACGTATTACATATTACATATTATATATTACGTATTACGT ATTACATATTACATATTATATATTACGTATTACGTATTACATATTACATA TTATATATTACGTATTACGTATTACATATTATATATTATATATTACGTAT TACGTATTACATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG06807.hp2 HG00140.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0010 a0001c0001t0009 a0001c0001t0010	a0001c0001t0009g0338 a0001c0001t0010g0339 a0001c0001t0009g0338 a0001c0001t0010g0339	2	394	0.0051	313	c.345 others(328): Show c.345-491_345-490insATATGTAATACGTAATACGTAATATATAAT ATATAATATGTAATACGTAATACGTAATATATAATATGTAATATGTAATA CGTAATACGTAATATATAATATGTAATATGTAATACGTAATACGTAATAT ATAATATGTAATATGTAATACGTAATACGTAATATATAATATGTAATATG TAATACGTAATACGTAATATATAATATGTAATATGTAATACGTAATACGT AATATATAATATGTAATATGTAATACGTAATACGTAATATATAATATGTA ATATGTAATACGTAATATGTAATATATAATATG	FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2			chr15	TogoVar
FAM210A_chr18_13658347_13731558	13673958	T T	TCATTTCC others(306): Show TCATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCTGGCTTCTTTAT TTCCAGTTTCCTGATTATTAACATTCCTGAGCCCAGGCTTCTTTATTTCC AGTTTCCTGATTATTAACATTCCTGAGCCCTGGCTTCTTTATTTCCTGTT TCCTGATTATTAAAATTCCTGAGCCCCGACTTCATTTCCAGTTTCCTGAT TATTAACATTCCTGAGCCCTAGCTTCTTGATTTCCAGTTTCCTGATTATT AACATTCCTGAGCCCCGACTTCTTTATTTCCAGTTTCCTGATTATTAACA TTCCTGAGCCCCGA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02818.hp1 HG02559.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0268 a0001c0001t0008g0269 a0001c0001t0008g0268 a0001c0001t0008g0269	2	326	0.0061	313	c.474 others(330): Show c.474-1986_474-1985insTCGGGGCTCAGGAATGTTAATAATCAGG AAACTGGAAATAAAGAAGTCGGGGCTCAGGAATGTTAATAATCAGGAAAC TGGAAATCAAGAAGCTAGGGCTCAGGAATGTTAATAATCAGGAAACTGGA AATGAAGTCGGGGCTCAGGAATTTTAATAATCAGGAAACAGGAAATAAAG AAGCCAGGGCTCAGGAATGTTAATAATCAGGAAACTGGAAATAAAGAAGC CTGGGCTCAGGAATGTTAATAATCAGGAAACTGGAAATAAAGAAGCCAGG GCTCAGGAATGTTAATAATCAGGAAACTGGAAATG	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FANCA_chr16_89732549_89821647	89801032	C C	CAAAAAAA others(306): Show CAAAAAAAAAAAAAAAGAAAAAAGAAAAAAAAAGGCCAGGCACGGTAGCC CACGCCTATAATCCCAACACTTTGAGAGGCCAAGGTGGGCGGGTCATGAG ATCAGAAGTTCGAGACCAGCCTGACCAACACTGTGAAAGCCCATCTCTAC TAAAAATAGAAAAACTAGCCGGGAGTGGTGGTGGGCGCCTGTAGTCCCAG CTATTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCGGAGGCGGAGC TTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGAGACAGAGC AAGACTCCATCTCA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0028 a0028	a0028c0054 a0028c0054	a0028c0054t0013 a0028c0054t0013	a0028c0054t0013g0206 a0028c0054t0013g0206	1	334	0.0030	313	c.793 others(330): Show c.793-1395_793-1394insTGAGATGGAGTCTTGCTCTGTCTCCCAG GCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCGGG GTTCACGCCATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGC GCCCACCACCACTCCCGGCTAGTTTTTCTATTTTTAGTAGAGATGGGCTT TCACAGTGTTGGTCAGGCTGGTCTCGAACTTCTGATCTCATGACCCGCCC ACCTTGGCCTCTCAAAGTGTTGGGATTATAGGCGTGGGCTACCGTGCCTG GCCTTTTTTTTTCTTTTTTCTTTTTTTTTTTTTTT	FANCA	ENSG00000187741.16	transcript	ENST00000389301.8	protein_coding	8/42			chr16	TogoVar
FARP1_chr13_98138094_98460176	98151043	A A	AAACAATT others(306): Show AAACAATTCACAGGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCT GGGACTACAGGCGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0173 a0001c0002t0009g0173	1	218	0.0046	313	c.-24 others(330): Show c.-24+7568_-24+7569insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGT AGCTGGGACTACAGGCGCCCGCCACCATGCCCGGCTAATTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCAACAATTCACAGGTCTT	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FAT3_chr11_92219818_92901473	92875311	T T	TAAGATCC others(306): Show TAAGATCCTAGACAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCCGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0049 a0049	a0049c0059 a0049c0059	a0049c0059t0044 a0049c0059t0044	a0049c0059t0044g0082 a0049c0059t0044g0082	1	118	0.0085	313	c.121 others(334): Show c.12128-5406_12128-5405insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTC CGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAGATCCTAGACAG	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	22/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92875311	T T	TAAGATCC others(306): Show TAAGATCCTAGACAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01099.hp1 HG01169.hp1 others(30): Show HG00673.hp1 HG01099.hp1 HG01169.hp1 HG01169.hp2 HG01891.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02080.hp1 HG02080.hp2 HG02145.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02922.hp1 HG02976.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03927.hp1 NA18940.hp1 NA19009.hp1 NA19060.hp2 NA19065.hp1 NA19240.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(14): Show a0001 a0003 a0004 a0007 a0010 a0011 a0013 a0016 a0017 a0018 a0025 a0026 a0027 a0028 a0038 a0040 a0050	a0001c0001 a0001c0005 a0001c0006 others(25): Show a0001c0001 a0001c0005 a0001c0006 a0001c0025 a0001c0050 a0001c0053 a0001c0085 a0001c0087 a0003c0019 a0003c0032 a0004c0012 a0004c0048 a0004c0049 a0004c0063 a0007c0080 a0010c0073 a0011c0065 a0013c0018 a0016c0015 a0017c0071 a0018c0028 a0025c0047 a0026c0062 a0027c0017 a0028c0075 a0038c0086 a0040c0068 a0050c0064	a0001c0001t0053 a0001c0001t0079 a0001c0001t0080 others(30): Show a0001c0001t0053 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0005t0018 a0001c0005t0064 a0001c0005t0065 a0001c0006t0052 a0001c0025t0011 a0001c0050t0085 a0001c0053t0040 a0001c0085t0014 a0001c0087t0066 a0003c0019t0058 a0003c0032t0013 a0004c0012t0004 a0004c0048t0047 a0004c0049t0013 a0004c0063t0059 a0007c0080t0061 a0010c0073t0001 a0011c0065t0041 a0013c0018t0063 a0016c0015t0082 a0017c0071t0001 a0018c0028t0077 a0025c0047t0011 a0026c0062t0001 a0027c0017t0001 a0028c0075t0084 a0038c0086t0014 a0040c0068t0060 a0050c0064t0012	a0001c0001t0053g0090 a0001c0001t0079g0003 a0001c0001t0080g0011 others(30): Show a0001c0001t0053g0090 a0001c0001t0079g0003 a0001c0001t0080g0011 a0001c0001t0081g0002 a0001c0005t0018g0088 a0001c0005t0064g0006 a0001c0005t0065g0004 a0001c0006t0052g0028 a0001c0025t0011g0076 a0001c0050t0085g0022 a0001c0053t0040g0050 a0001c0085t0014g0107 a0001c0087t0066g0001 a0003c0019t0058g0110 a0003c0032t0013g0109 a0004c0012t0004g0044 a0004c0048t0047g0055 a0004c0049t0013g0080 a0004c0063t0059g0118 a0007c0080t0061g0114 a0010c0073t0001g0077 a0011c0065t0041g0086 a0013c0018t0063g0012 a0016c0015t0082g0007 a0017c0071t0001g0031 a0018c0028t0077g0005 a0025c0047t0011g0063 a0026c0062t0001g0039 a0027c0017t0001g0034 a0028c0075t0084g0014 a0038c0086t0014g0108 a0040c0068t0060g0043 a0050c0064t0012g0093	33	118	0.2797	313	c.121 others(334): Show c.12128-5406_12128-5405insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAGATCCTAGACAG	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	22/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92875311	T T	TAAGATCC others(306): Show TAAGATCCTAGACAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGTTATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03209.hp2 HG03041.hp2 HG03209.hp2	a0034 a0039 a0034 a0039	a0034c0033 a0039c0070 a0034c0033 a0039c0070	a0034c0033t0045 a0039c0070t0046 a0034c0033t0045 a0039c0070t0046	a0034c0033t0045g0049 a0039c0070t0046g0056 a0034c0033t0045g0049 a0039c0070t0046g0056	2	118	0.0170	313	c.121 others(334): Show c.12128-5406_12128-5405insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGT TATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAGATCCTAGACAG	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	22/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FBP1_chr9_94598133_94644518	94625120	T T	TTAAAGTG others(306): Show TTAAAGTGAGAAGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAA AAAAAAAAATAAAA	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19086.hp2 NA19081.hp1 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0243 a0001c0004t0001g0185 a0001c0002t0001g0243 a0001c0004t0001g0185	2	358	0.0056	313	c.171 others(330): Show c.171-4630_171-4629insTTTTATTTTTTTTTTTTGAGACGGAGTC TCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAG GCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTGCTTCTCACTTTA	FBP1	ENSG00000165140.12	transcript	ENST00000375326.9	protein_coding	1/6			chr9	TogoVar
FBP2_chr9_94553720_94598824	94559519	T T	TAAAGAGT others(306): Show TAAAGAGTCAAGCTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGCCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02723.hp2 HG01081.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0293 a0001c0001t0001g0234 a0001c0001t0001g0293	2	380	0.0053	313	c.826 others(328): Show c.826-388_826-387insTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGGCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCTAAGCTTGACTCTTT	FBP2	ENSG00000130957.5	transcript	ENST00000375337.4	protein_coding	6/6			chr9	TogoVar
FBXL13_chr7_102806189_103079796	102857095	T T	TAAAGAAT others(306): Show TAAAGAATTAAACATAAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGAGCGGTGGCGGGCTCCTGTAGTCCCAGCTACTTGAGAGGCTG AGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACGCTGTCTCAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0011 a0013c0016t0011	a0013c0016t0011g0174 a0013c0016t0011g0174	1	328	0.0031	313	c.190 others(332): Show c.1906-2236_1906-2235insTTTTTTTTTTTTTTTTGAGACAGCGT CTGGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCAAG TAGCTGGGACTACAGGAGCCCGCCACCGCTCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCACGCCCGGCCTTATGTTTAATTCTTT	FBXL13	ENSG00000161040.19	transcript	ENST00000440067.4	protein_coding	17/20			chr7	TogoVar
FIG4_chr6_109686296_109830426	109781773	C C	CAGATTTT others(306): Show CAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACT GCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCA CCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTT GTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG CCTCCCAAAGTGCT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01175.hp1 HG01358.hp1 HG00408.hp2 HG01175.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0046 a0001c0001t0002g0052 a0001c0003t0001g0265 a0001c0001t0002g0046 a0001c0001t0002g0052 a0001c0003t0001g0265	3	370	0.0081	313	c.189 others(332): Show c.1890-3191_1890-3190insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC GCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGATTT	FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr6	TogoVar

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