Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DUSP29_chr10_75032472_75078642	75074317	A A	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0050 a0006c0007t0001g0050	1	192	0.0052	29	c.-78 others(38): Show c.-784_-783insATATATATATATATATATATATATATATT	DUSP29	ENSG00000188716.6	transcript	ENST00000338487.6	protein_coding		676		chr10	TogoVar
DUSP7_chr3_52043919_52061571	52048804	G G	GCAGACCC others(22): Show GCAGACCCCAAGCAGAACCAGGCCAGTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	382	0.0026	29	c.20 others(40): Show c.2010_*2011insGGCACTGGCCTGGTTCTGCTTGGGGTCTG	DUSP7	ENSG00000164086.10	transcript	ENST00000495880.2	protein_coding		114		chr3	TogoVar
DUXA_chr19_57149021_57172485	57165322	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	337	0.0030	29	c.25+ others(44): Show c.25+2096_25+2097insATATATATATATATATATATATATATATA	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding	1/5			chr19	TogoVar
DUXA_chr19_57149021_57172485	57172002	C C	CGAGGGGG others(22): Show CGAGGGGGGCGGGGGCCCGCGAGGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	358	0.0028	29	c.-45 others(40): Show c.-4560_-4559insCGCCCCCCTCGCGGGCCCCCGCCCCCCTC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4518		chr19	TogoVar
DVL1_chr1_1330278_1354418	1350906	G G	GGAGGGGG others(22): Show GGAGGGGGCCGCAGGAGCGACGGGGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	342	0.0029	29	c.-18 others(40): Show c.-1842_-1841insACTCCCCCCGTCGCTCCTGCGGCCCCCTC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1489		chr1	TogoVar
DVL1_chr1_1330278_1354418	1350946	G G	GGAGGGGG others(22): Show GGAGGGGGCCGCAGGAGCGACGGGGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02080.hp2 HG02630.hp1 others(9): Show HG02071.hp1 HG02080.hp2 HG02630.hp1 HG02896.hp1 HG03490.hp1 HG04115.hp2 NA18964.hp2 NA18966.hp1 NA18983.hp1 NA19009.hp2 NA19067.hp1 NA19077.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0002 a0004c0007t0002 a0001c0001t0002 a0004c0007t0002	a0001c0001t0002g0002 a0001c0001t0002g0020 a0001c0001t0002g0022 others(3): Show a0001c0001t0002g0002 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0055 a0004c0007t0002g0021	12	325	0.0369	29	c.-18 others(40): Show c.-1882_-1881insACTCCCCCCGTCGCTCCTGCGGCCCCCTC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1529		chr1	TogoVar
DVL1_chr1_1330278_1354418	1350986	G G	GGAGGGGG others(22): Show GGAGGGGGCCGCAGGAGCGACGGGGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 NA18985.hp2 NA18997.hp2 HG02055.hp1 NA18985.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0066 a0001c0001t0002g0002 a0001c0001t0002g0066	3	341	0.0088	29	c.-19 others(40): Show c.-1922_-1921insACTCCCCCCGTCGCTCCTGCGGCCCCCTC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1569		chr1	TogoVar
DYM_chr18_49031387_49465645	49252216	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03831.hp1 HG03704.hp2 HG03831.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0005c0008 a0001c0003 a0005c0008	a0001c0003t0009 a0005c0008t0005 a0001c0003t0009 a0005c0008t0005	a0001c0003t0009g0005 a0005c0008t0005g0260 a0001c0003t0009g0005 a0005c0008t0005g0260	2	10	0.2000	29	c.146 others(48): Show c.1460+4793_1460+4794insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	13/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49317582	T T	TCCTCCTC others(22): Show TCCTCCTCTCCTCTCCTCTCCTCTCCTCTC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0106 a0001c0001t0007g0106	1	286	0.0035	29	c.763 others(48): Show c.763+14281_763+14282insGAGAGGAGAGGAGAGGAGAGGAGAGG AGG	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49317611	C C	CCTCTCCT others(22): Show CCTCTCCTCTCCTCTCCTCTCCTCTCCTCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0120 a0001c0001t0007g0120	1	283	0.0035	29	c.763 others(48): Show c.763+14252_763+14253insAGAGGAGAGGAGAGGAGAGGAGAGGA GAG	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49440973	A A	AATATATA others(22): Show AATATATAATATATAAATATATTATATTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02145.hp1 HG02572.hp1 others(2): Show HG00738.hp1 HG02145.hp1 HG02572.hp1 HG02809.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0240 a0001c0001t0011g0241 a0001c0001t0011g0242 others(2): Show a0001c0001t0011g0240 a0001c0001t0011g0241 a0001c0001t0011g0242 a0001c0001t0011g0243 a0001c0001t0011g0244	5	256	0.0195	29	c.-53 others(48): Show c.-53-10527_-53-10526insAAAATATAATATATTTATATATTATA TAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYNC1LI1_chr3_32520974_32575858	32532480	A A	ATGTGTAT others(22): Show ATGTGTATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA18949.hp1 NA18952.hp1 others(2): Show HG03017.hp1 NA18949.hp1 NA18952.hp1 NA18970.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0018 a0001c0001t0001g0297 a0001c0001t0004g0062 others(1): Show a0001c0001t0001g0018 a0001c0001t0001g0297 a0001c0001t0004g0062 a0001c0001t0004g0063	5	279	0.0179	29	c.108 others(46): Show c.1080+505_1080+506insATATATATATATATATATATATATACAC A	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	8/12			chr3	TogoVar
DYNC1LI1_chr3_32520974_32575858	32532480	A A	ATGTGTAT others(22): Show ATGTGTATGTATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA19010.hp1 HG03654.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0029 a0001c0001t0003g0021 a0001c0001t0003g0029	2	276	0.0072	29	c.108 others(46): Show c.1080+505_1080+506insATATATATATATATATATATACATACAC A	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	8/12			chr3	TogoVar
DYNC2I1_chr7_158851558_158951189	158937622	G G	GAAAAAAA others(22): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	118	0.0085	29	c.277 others(48): Show c.2778+3086_2778+3087insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	185	0.0054	29	c.75 others(38): Show c.757_*758insAAAAATATATATATATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT2B_chr3_196286219_196323240	196317389	T T	TGTGTGTG others(22): Show TGTGTGTGTGTGTGTGTGGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	206	0.0049	29	c.113 others(44): Show c.113+650_113+651insCCACACACACACCACACACACACACACAC	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4			chr3	TogoVar
DYRK1A_chr21_37361773_37531358	37383743	T T	TGTAGAGT others(22): Show TGTAGAGTAAACAAGAAAGCAAATAACATA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	348	0.0029	29	c.-77 others(48): Show c.-77+16116_-77+16144dupGTAGAGTAAACAAGAAAGCAAATAAC ATA	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37440130	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18906.hp2 HG04184.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0104 a0001c0001t0091 a0001c0001t0104	a0001c0001t0091g0160 a0001c0001t0104g0070 a0001c0001t0091g0160 a0001c0001t0104g0070	2	67	0.0299	29	c.10+ others(46): Show c.10+19769_10+19770insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37479606	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	282	0.0035	29	c.301 others(46): Show c.301-1027_301-1026insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYSF_chr2_71448561_71691763	71560417	G G	GCCCCAGC others(22): Show GCCCCAGCACAGGGCTCCGGCCCAGGCCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG00642.hp2 others(77): Show HG00140.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02109.hp2 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02818.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03486.hp1 HG03540.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18947.hp1 NA18962.hp1 NA18971.hp2 NA19009.hp1 NA19030.hp1 NA19043.hp1 NA19064.hp2 NA19085.hp2 NA19088.hp1 NA19240.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0003 a0005 others(12): Show a0001 a0003 a0005 a0006 a0008 a0009 a0010 a0012 a0013 a0015 a0017 a0020 a0021 a0022 a0028	a0001c0003 a0001c0004 a0001c0005 others(44): Show a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0018 a0001c0020 a0001c0024 a0001c0025 a0001c0026 a0001c0030 a0001c0037 a0001c0038 a0001c0041 a0001c0046 a0001c0064 a0001c0072 a0001c0074 a0001c0075 a0001c0076 a0001c0079 a0001c0080 a0001c0083 a0003c0042 a0003c0043 a0003c0084 a0005c0040 a0006c0029 a0008c0045 a0009c0061 a0010c0032 a0012c0065 a0013c0077 a0015c0036 a0017c0039 a0020c0044 a0021c0078 a0022c0035 a0028c0081	a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 others(51): Show a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0007t0001 a0001c0009t0001 a0001c0009t0002 a0001c0010t0002 a0001c0010t0004 a0001c0011t0001 a0001c0012t0001 a0001c0013t0001 a0001c0014t0001 a0001c0015t0001 a0001c0016t0002 a0001c0018t0001 a0001c0020t0001 a0001c0024t0001 a0001c0025t0001 a0001c0025t0002 a0001c0026t0001 a0001c0030t0001 a0001c0037t0001 a0001c0038t0001 a0001c0041t0002 a0001c0046t0005 a0001c0064t0001 a0001c0072t0001 a0001c0074t0001 a0001c0075t0001 a0001c0076t0001 a0001c0079t0002 a0001c0080t0001 a0001c0083t0001 a0003c0042t0001 a0003c0043t0001 a0003c0084t0002 a0005c0040t0002 a0006c0029t0001 a0008c0045t0001 a0009c0061t0001 a0010c0032t0001 a0012c0065t0001 a0013c0077t0001 a0015c0036t0001 a0017c0039t0001 a0020c0044t0002 a0021c0078t0006 a0022c0035t0001 a0028c0081t0001	a0001c0003t0001g0091 a0001c0003t0001g0105 a0001c0003t0001g0111 others(77): Show a0001c0003t0001g0091 a0001c0003t0001g0105 a0001c0003t0001g0111 a0001c0003t0001g0112 a0001c0003t0001g0113 a0001c0003t0001g0115 a0001c0003t0001g0117 a0001c0003t0001g0119 a0001c0003t0001g0121 a0001c0003t0001g0123 a0001c0003t0001g0134 a0001c0003t0001g0157 a0001c0004t0001g0062 a0001c0004t0002g0020 a0001c0004t0002g0023 a0001c0005t0001g0029 a0001c0005t0001g0133 a0001c0005t0001g0140 a0001c0005t0002g0145 a0001c0005t0002g0152 a0001c0006t0001g0070 a0001c0006t0001g0127 a0001c0006t0002g0153 a0001c0006t0002g0170 a0001c0006t0003g0009 a0001c0007t0001g0184 a0001c0009t0001g0053 a0001c0009t0001g0103 a0001c0009t0002g0025 a0001c0010t0002g0026 a0001c0010t0002g0146 a0001c0010t0004g0033 a0001c0011t0001g0076 a0001c0012t0001g0072 a0001c0012t0001g0128 a0001c0013t0001g0083 a0001c0014t0001g0109 a0001c0014t0001g0169 a0001c0015t0001g0003 a0001c0015t0001g0027 a0001c0016t0002g0019 a0001c0016t0002g0021 a0001c0018t0001g0125 a0001c0020t0001g0071 a0001c0020t0001g0085 a0001c0024t0001g0054 a0001c0024t0001g0124 a0001c0025t0001g0114 a0001c0025t0002g0188 a0001c0026t0001g0048 a0001c0026t0001g0049 a0001c0030t0001g0081 a0001c0037t0001g0130 a0001c0038t0001g0061 a0001c0041t0002g0144 a0001c0046t0005g0147 a0001c0064t0001g0046 a0001c0072t0001g0095 a0001c0074t0001g0138 a0001c0075t0001g0055 a0001c0076t0001g0118 a0001c0079t0002g0022 a0001c0080t0001g0010 a0001c0083t0001g0031 a0003c0042t0001g0066 a0003c0043t0001g0030 a0003c0084t0002g0012 a0005c0040t0002g0013 a0006c0029t0001g0104 a0008c0045t0001g0135 a0009c0061t0001g0129 a0010c0032t0001g0191 a0012c0065t0001g0002 a0013c0077t0001g0190 a0015c0036t0001g0120 a0017c0039t0001g0067 a0020c0044t0002g0148 a0021c0078t0006g0187 a0022c0035t0001g0051 a0028c0081t0001g0101	80	162	0.4938	29	c.216 others(48): Show c.2163-1331_2163-1330insAGCACAGGGCTCCGGCCCAGGCCCCC CCC	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	22/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71560417	G G	GCCCCAGC others(22): Show GCCCCAGCACAGGGCTCCGGCCCAGGCCCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG00642.hp2 others(84): Show HG00140.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01261.hp1 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02109.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18947.hp2 NA18962.hp1 NA18971.hp2 NA18973.hp1 NA19030.hp1 NA19043.hp1 NA19064.hp2 NA19085.hp1 NA19088.hp2 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0003 a0005 others(13): Show a0001 a0003 a0005 a0006 a0008 a0009 a0010 a0011 a0013 a0014 a0016 a0018 a0022 a0023 a0026 a0031	a0001c0003 a0001c0004 a0001c0005 others(46): Show a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0020 a0001c0024 a0001c0025 a0001c0026 a0001c0031 a0001c0039 a0001c0040 a0001c0042 a0001c0047 a0001c0061 a0001c0067 a0001c0077 a0001c0079 a0001c0080 a0001c0081 a0001c0084 a0001c0085 a0001c0086 a0001c0089 a0003c0043 a0003c0044 a0003c0090 a0005c0035 a0006c0076 a0008c0030 a0009c0046 a0010c0064 a0011c0033 a0013c0068 a0014c0082 a0016c0038 a0018c0041 a0022c0045 a0023c0083 a0026c0049 a0031c0087	a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 others(54): Show a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0007t0002 a0001c0008t0001 a0001c0009t0001 a0001c0009t0008 a0001c0010t0001 a0001c0010t0005 a0001c0012t0001 a0001c0013t0001 a0001c0014t0001 a0001c0014t0002 a0001c0015t0001 a0001c0016t0001 a0001c0020t0001 a0001c0024t0001 a0001c0025t0001 a0001c0025t0002 a0001c0026t0001 a0001c0031t0001 a0001c0039t0001 a0001c0040t0001 a0001c0042t0001 a0001c0047t0003 a0001c0061t0002 a0001c0067t0001 a0001c0077t0001 a0001c0079t0001 a0001c0080t0001 a0001c0081t0001 a0001c0084t0001 a0001c0085t0001 a0001c0086t0001 a0001c0089t0001 a0003c0043t0001 a0003c0044t0001 a0003c0090t0001 a0005c0035t0001 a0006c0076t0004 a0008c0030t0001 a0009c0046t0001 a0010c0064t0001 a0011c0033t0002 a0013c0068t0001 a0014c0082t0002 a0016c0038t0001 a0018c0041t0001 a0022c0045t0001 a0023c0083t0002 a0026c0049t0001 a0031c0087t0001	a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0008 others(84): Show a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0011 a0001c0003t0001g0013 a0001c0003t0001g0014 a0001c0003t0001g0039 a0001c0003t0001g0043 a0001c0003t0001g0047 a0001c0003t0001g0055 a0001c0003t0001g0065 a0001c0003t0001g0076 a0001c0003t0001g0098 a0001c0003t0002g0161 a0001c0004t0001g0025 a0001c0004t0001g0030 a0001c0004t0001g0031 a0001c0004t0001g0080 a0001c0005t0001g0070 a0001c0005t0001g0074 a0001c0005t0001g0092 a0001c0005t0001g0143 a0001c0005t0002g0177 a0001c0006t0001g0072 a0001c0006t0001g0122 a0001c0006t0002g0151 a0001c0006t0002g0176 a0001c0006t0003g0204 a0001c0007t0002g0189 a0001c0008t0001g0127 a0001c0009t0001g0053 a0001c0009t0001g0064 a0001c0009t0008g0196 a0001c0010t0001g0035 a0001c0010t0001g0041 a0001c0010t0001g0142 a0001c0010t0005g0086 a0001c0012t0001g0033 a0001c0012t0001g0147 a0001c0012t0001g0208 a0001c0013t0001g0057 a0001c0014t0001g0004 a0001c0014t0002g0175 a0001c0015t0001g0034 a0001c0015t0001g0207 a0001c0016t0001g0026 a0001c0016t0001g0027 a0001c0020t0001g0132 a0001c0020t0001g0133 a0001c0024t0001g0054 a0001c0024t0001g0087 a0001c0025t0001g0012 a0001c0025t0002g0191 a0001c0026t0001g0095 a0001c0026t0001g0097 a0001c0031t0001g0121 a0001c0039t0001g0061 a0001c0040t0001g0096 a0001c0042t0001g0141 a0001c0047t0003g0145 a0001c0061t0002g0001 a0001c0067t0001g0082 a0001c0077t0001g0050 a0001c0079t0001g0068 a0001c0080t0001g0088 a0001c0081t0001g0018 a0001c0084t0001g0038 a0001c0085t0001g0029 a0001c0086t0001g0198 a0001c0089t0001g0024 a0003c0043t0001g0117 a0003c0044t0001g0023 a0003c0090t0001g0136 a0005c0035t0001g0123 a0006c0076t0004g0019 a0008c0030t0001g0016 a0009c0046t0001g0066 a0010c0064t0001g0058 a0011c0033t0002g0152 a0013c0068t0001g0202 a0014c0082t0002g0150 a0016c0038t0001g0015 a0018c0041t0001g0119 a0022c0045t0001g0093 a0023c0083t0002g0188 a0026c0049t0001g0104 a0031c0087t0001g0085	87	171	0.5088	29	c.221 others(48): Show c.2217-1331_2217-1330insAGCACAGGGCTCCGGCCCAGGCCCCC CCC	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	22/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	117	0.0085	29	c.-29 others(40): Show c.-2977_-2976insATATATATATATATATATTTTTTTTTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	117	0.0085	29	c.-29 others(40): Show c.-2977_-2976insATATATATATATATATATATATATATATA	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
EBF1_chr5_158690920_159104916	158954215	G G	GTAAACTG others(22): Show GTAAACTGTTGTAAACTGTTGTAAACTTCA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03471.hp1 HG02451.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0175 a0001c0001t0008g0183 a0001c0001t0002g0175 a0001c0001t0008g0183	2	196	0.0102	29	c.555 others(50): Show c.555-114106_555-114105insTGAAGTTTACAACAGTTTACAACA GTTTA	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF3_chr10_129830233_129969274	129917651	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0192 a0001c0001t0007g0192	1	49	0.0204	29	c.554 others(48): Show c.554+39606_554+39607insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
ECM2_chr9_92490315_92540990	92532015	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0103 a0001c0002t0002g0103	1	249	0.0040	29	c.-28 others(46): Show c.-28+3917_-28+3918insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECT2L_chr6_138791087_138909070	138896090	G G	GTGATTTT others(22): Show GTGATTTTAAACTTGCTGAGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0211 a0001c0001t0016g0211	1	324	0.0031	29	c.241 others(48): Show c.2415-4858_2415-4857insTGATTTTAAACTTGCTGAGTTTTTTT TTT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	20/21			chr6	TogoVar
EDARADD_chr1_236389286_236489930	236405790	T T	TTTCTTTC others(22): Show TTTCTTTCTTTCTTTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01192.hp1 NA19004.hp1 NA20752.hp1 HG01192.hp1 NA19004.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0110 a0002c0002t0001g0247 a0002c0002t0001g0262 a0001c0001t0001g0110 a0002c0002t0001g0247 a0002c0002t0001g0262	3	244	0.0123	29	c.62- others(44): Show c.62-3424_62-3423insCTTTCTTTCTTTTTCTTTCTTTCTTTCTT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236405790	T T	TTTCTTTC others(22): Show TTTCTTTCTTTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0125 a0001c0001t0003g0125	1	242	0.0041	29	c.62- others(44): Show c.62-3424_62-3423insCTTTCTTTTTCTTTCTTTCTTTCTTTCTT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDC3_chr15_74625558_74701024	74668759	A A	AAAGAAAG others(22): Show AAAGAAAGAAAGAAAGAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0215	1	284	0.0035	29	c.484 others(46): Show c.484+2695_484+2696insCTTCTTTCTTTCTTCTTTCTTTCTTTCT T	EDC3	ENSG00000179151.13	transcript	ENST00000315127.9	protein_coding	3/6			chr15	TogoVar
EDIL3_chr5_83935554_84389880	84252493	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02523.hp1 HG01993.hp2 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0004 a0001c0001t0004 a0001c0002t0004	a0001c0001t0004g0113 a0001c0002t0004g0062 a0001c0001t0004g0113 a0001c0002t0004g0062	2	19	0.1053	29	c.196 others(46): Show c.196+1590_196+1591insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	2/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84262659	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	2	0.5000	29	c.68- others(44): Show c.68-8476_68-8448dupAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EDN2_chr1_41473775_41489683	41478589	A A	ATCCCCCC others(22): Show ATCCCCCCCCCCCCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	440	0.0023	29	c.81 others(38): Show c.819_*820insGGGGGGGGGGGGGGGGGGGGGGGGGGGGA	EDN2	ENSG00000127129.10	transcript	ENST00000372587.5	protein_coding		185		chr1	TogoVar
EDNRA_chr4_147476097_147549954	147485176	A A	ACTACTAC others(22): Show ACTACTACTTAAAGGAAAAACTGACATAGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00558.hp1 others(35): Show HG00408.hp2 HG00423.hp1 HG00558.hp1 HG01175.hp2 HG01891.hp1 HG02027.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp2 HG02155.hp1 HG02258.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02738.hp2 HG03490.hp2 HG03492.hp2 HG03669.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 NA18747.hp2 NA18906.hp2 NA18945.hp1 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18956.hp2 NA18960.hp2 NA18967.hp1 NA18983.hp1 NA19005.hp1 NA19067.hp2 NA19080.hp1 NA19081.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0007 a0001c0001 a0001c0002 a0003c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0001t0022 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0030 a0003c0007t0003	a0001c0001t0002g0150 a0001c0001t0002g0162 a0001c0001t0002g0164 others(35): Show a0001c0001t0002g0150 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0171 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0172 a0001c0001t0004g0151 a0001c0001t0004g0158 a0001c0001t0004g0165 a0001c0001t0013g0156 a0001c0001t0013g0169 a0001c0001t0013g0170 a0001c0001t0022g0154 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0155 a0001c0002t0002g0159 a0001c0002t0002g0163 a0001c0002t0002g0168 a0001c0002t0003g0009 a0001c0002t0003g0174 a0001c0002t0003g0177 a0001c0002t0003g0178 a0001c0002t0003g0179 a0001c0002t0003g0180 a0001c0002t0004g0009 a0001c0002t0004g0160 a0001c0002t0004g0161 a0001c0002t0004g0173 a0001c0002t0004g0175 a0001c0002t0004g0176 a0001c0002t0004g0262 a0001c0002t0004g0264 a0001c0002t0030g0157 a0003c0007t0003g0147	38	278	0.1367	29	c.-70 others(44): Show c.-70-433_-70-405dupACTACTTAAAGGAAAAACTGACATAGCCT	EDNRA	ENSG00000151617.17	transcript	ENST00000651419.1	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	184	0.0054	29	c.400 others(46): Show c.400-3626_400-3625insATATATATATATATTTTTTTTTTTTTTT T	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA18973.hp1 HG02602.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0116 a0001c0001t0001g0095 a0001c0001t0001g0116	2	185	0.0108	29	c.400 others(46): Show c.400-3626_400-3625insATATATATATATATATTTTTTTTTTTTT T	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEFSEC_chr3_128148481_128413646	128150488	T T	TATATATA others(22): Show TATATATATATGTATGTTCCATTGTATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0251 a0005c0011t0001g0251	1	270	0.0037	29	c.-30 others(40): Show c.-3020_-3019insATATATATATGTATGTTCCATTGTATGGA	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		2992		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152894	A A	ACGCCCCC others(22): Show ACGCCCCCCCCGCCCCCCATCCTACCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG00639.hp1 others(100): Show HG00323.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01175.hp1 HG01192.hp1 HG01346.hp1 HG01346.hp2 HG01515.hp2 HG01516.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG02280.hp1 HG02451.hp1 HG02523.hp2 HG02630.hp1 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03195.hp1 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03579.hp2 HG03669.hp1 HG03704.hp1 HG04115.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19065.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA20129.hp1 NA20752.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0012 a0002c0005 others(1): Show a0001c0001 a0001c0012 a0002c0005 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0012t0001 a0002c0005t0003 a0003c0004t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(100): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0202 a0001c0001t0004g0079 a0001c0001t0005g0182 a0001c0001t0006g0210 a0001c0012t0001g0133 a0002c0005t0003g0049 a0003c0004t0001g0071 a0003c0004t0001g0213	103	196	0.5255	29	c.-61 others(38): Show c.-614_-613insCGCCCCCCCCGCCCCCCATCCTACCCCCC	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		586		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152991	C C	CCCGCCCC others(22): Show CCCGCCCCCCCCGCCCCCCCCGCCCCCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG02129.hp2 NA18952.hp1 others(2): Show HG00642.hp2 HG02129.hp2 NA18952.hp1 NA19000.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0170 others(2): Show a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0174	5	224	0.0223	29	c.-51 others(38): Show c.-517_-516insCCGCCCCCCCCGCCCCCCCCGCCCCCCTT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		489		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152991	C C	CCGCCCCC others(22): Show CCGCCCCCCCCCGCCCCCCCCGCCCCCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG02135.hp1 HG00621.hp2 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0200 a0001c0001t0005g0182 a0001c0001t0001g0200 a0001c0001t0005g0182	2	221	0.0090	29	c.-51 others(38): Show c.-517_-516insCGCCCCCCCCCGCCCCCCCCGCCCCCCTT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		489		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152993	G G	GCCCCCCC others(22): Show GCCCCCCCCGCCCCCCCCGCCCCCCTTCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	214	0.0047	29	c.-51 others(38): Show c.-515_-514insCCCCCCCCGCCCCCCCCGCCCCCCTTCGC	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		487		chr3	TogoVar
EEIG1_chr9_127935582_127985989	127985663	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	162	0.0062	29	c.-55 others(40): Show c.-5527_-5526insTATATATATATATATATATATATATATAT	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding		4675		chr9	TogoVar
EEPD1_chr7_36148254_36306538	36151852	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0322 a0001c0001t0002g0322	1	57	0.0175	29	c.-20 others(40): Show c.-2015_-2014insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding		1401		chr7	TogoVar
EEPD1_chr7_36148254_36306538	36183888	T T	TTTTTTTT others(22): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0036 a0001c0001t0027g0036	1	13	0.0769	29	c.878 others(48): Show c.878+28686_878+28687insTTTTTTTTTTTTTTTTTTTTTTTTTT TTG	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7			chr7	TogoVar
EFCAB10_chr7_105560124_105586493	105570240	A A	AAAAATAT others(22): Show AAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	243	0.0041	29	c.107 others(44): Show c.107-670_107-669insATATATATATATATATATATATATATTTT	EFCAB10	ENSG00000185055.11	transcript	ENST00000480514.6	protein_coding	1/4			chr7	TogoVar
EFCAB10_chr7_105560124_105586493	105570240	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	243	0.0041	29	c.107 others(44): Show c.107-670_107-669insATATATATATATATATATATATATATATA	EFCAB10	ENSG00000185055.11	transcript	ENST00000480514.6	protein_coding	1/4			chr7	TogoVar
EFCAB11_chr14_89789669_89959730	89944909	A A	ATTAGATT others(22): Show ATTAGATTTTATTAGATCTAATAATAAATC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0231 a0001c0001t0007g0231	1	282	0.0035	29	c.217 others(46): Show c.217+5187_217+5188insGATTTATTATTAGATCTAATAAAATCTA A	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	3/5			chr14	TogoVar
EFCAB13_chr17_47318955_47446312	47424874	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA18906.hp2 NA20129.hp1 HG02818.hp1 NA18906.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0006 a0003c0008 a0001c0006 a0003c0008	a0001c0006t0003 a0003c0008t0004 a0001c0006t0003 a0003c0008t0004	a0001c0006t0003g0101 a0003c0008t0004g0157 a0003c0008t0004g0258 a0001c0006t0003g0101 a0003c0008t0004g0157 a0003c0008t0004g0258	3	45	0.0667	29	c.249 others(48): Show c.2495-4918_2495-4917insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB5_chr17_29936634_30113452	30112454	C C	CCGTAGGT others(22): Show CCGTAGGTGCAGGAGCAGATACACTGCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0076 a0002c0002t0002g0076	1	246	0.0041	29	c.44 others(40): Show c.4430_*4431insCGTAGGTGCAGGAGCAGATACACTGCACT	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding		4003		chr17	TogoVar
EFCAB6_chr22_43523778_43817305	43675312	G G	GTATATAC others(22): Show GTATATACTATAATATATAATATAATATAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02717.hp1 HG02723.hp1 others(7): Show HG01496.hp1 HG02717.hp1 HG02723.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG03098.hp2 HG03453.hp2 HG03516.hp1 NA18906.hp1	a0007 a0021 a0007 a0021	a0007c0007 a0021c0032 a0007c0007 a0021c0032	a0007c0007t0001 a0007c0007t0002 a0021c0032t0001 a0007c0007t0001 a0007c0007t0002 a0021c0032t0001	a0007c0007t0001g0154 a0007c0007t0001g0155 a0007c0007t0001g0156 others(7): Show a0007c0007t0001g0154 a0007c0007t0001g0155 a0007c0007t0001g0156 a0007c0007t0001g0157 a0007c0007t0001g0158 a0007c0007t0001g0159 a0007c0007t0001g0160 a0007c0007t0002g0004 a0007c0007t0002g0005 a0021c0032t0001g0126	10	117	0.0855	29	c.141 others(48): Show c.1419+2683_1419+2684insGTATATTATATTATATATTATAGTAT ATA	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	13/31			chr22	TogoVar

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