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
DHX15_chr4_24522475_24589554	24550094	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02602.hp2 HG01109.hp1 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0126 a0001c0001t0001g0051 a0001c0001t0001g0126	2	374	0.0054	18	c.108 others(37): Show c.1081-1090_1081-1073dupTTTTTTTTTTTTTTTTTT	DHX15	ENSG00000109606.13	transcript	ENST00000336812.5	protein_coding	5/13			chr4	TogoVar
DHX15_chr4_24522475_24589554	24574205	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02132.hp1 HG02965.hp2 others(7): Show HG02080.hp1 HG02132.hp1 HG02965.hp2 NA18945.hp2 NA18949.hp2 NA18950.hp2 NA19011.hp2 NA19056.hp2 NA19080.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0168 a0001c0001t0001g0276 others(7): Show a0001c0001t0001g0129 a0001c0001t0001g0168 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0332	10	374	0.0267	18	c.507 others(35): Show c.507+2020_507+2037dupTTTTTTTTTTTTTTTTTT	DHX15	ENSG00000109606.13	transcript	ENST00000336812.5	protein_coding	2/13			chr4	TogoVar
DHX37_chr12_124941826_124994131	124983418	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	370	0.0027	18	c.277 others(33): Show c.277-813_277-796dupGTGTGTGTGTGTGTGTGT	DHX37	ENSG00000150990.9	transcript	ENST00000308736.7	protein_coding	2/26			chr12	TogoVar
DHX57_chr2_38792729_38880934	38837611	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01168.hp1 HG01346.hp2 others(9): Show HG01070.hp2 HG01168.hp1 HG01346.hp2 HG03041.hp2 HG03453.hp2 HG03492.hp1 HG03710.hp2 NA18612.hp1 NA19054.hp1 NA19054.hp2 NA19063.hp1 NA19068.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0005 a0002c0001 a0003c0005	a0002c0001t0001 a0002c0001t0006 a0003c0005t0002 a0002c0001t0001 a0002c0001t0006 a0003c0005t0002	a0002c0001t0001g0028 a0002c0001t0001g0053 a0002c0001t0001g0054 others(9): Show a0002c0001t0001g0028 a0002c0001t0001g0053 a0002c0001t0001g0054 a0002c0001t0001g0055 a0002c0001t0001g0080 a0002c0001t0001g0082 a0002c0001t0001g0086 a0002c0001t0001g0101 a0002c0001t0001g0112 a0002c0001t0001g0119 a0002c0001t0006g0081 a0003c0005t0002g0189	12	284	0.0423	18	c.254 others(35): Show c.2542+219_2542+220insTTTTTTTTTTTTTTTTTT	DHX57	ENSG00000163214.21	transcript	ENST00000457308.6	protein_coding	13/23			chr2	TogoVar
DHX8_chr17_43478975_43530670	43511456	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG01993.hp2 others(15): Show HG00621.hp2 HG00639.hp1 HG01993.hp2 HG02056.hp1 HG02083.hp1 HG02155.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02602.hp2 HG02683.hp2 HG03492.hp1 NA18906.hp2 NA18954.hp2 NA18974.hp2 NA18998.hp1 NA19081.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0202 others(11): Show a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0209 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0244 a0001c0001t0003g0251 a0001c0001t0003g0279 a0001c0001t0005g0240	18	354	0.0509	18	c.250 others(37): Show c.2503-1904_2503-1887dupTTTTTTTTTTTTTTTTTT	DHX8	ENSG00000067596.12	transcript	ENST00000262415.8	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
DHX9_chr1_182834347_182892982	182868520	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0212 a0001c0004t0001g0212	1	276	0.0036	18	c.155 others(37): Show c.1557+1491_1557+1492insTTTTTTTTTTTTTTTTTT	DHX9	ENSG00000135829.17	transcript	ENST00000367549.4	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
DIAPH1_chr5_141510021_141624000	141591695	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02572.hp2 HG02886.hp2 others(1): Show HG00280.hp1 HG02572.hp2 HG02886.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 a0001c0001t0002 a0001c0001t0003 a0001c0002t0003	a0001c0001t0002g0143 a0001c0001t0002g0302 a0001c0001t0003g0173 others(1): Show a0001c0001t0002g0143 a0001c0001t0002g0302 a0001c0001t0003g0173 a0001c0002t0003g0158	4	336	0.0119	18	c.118 others(35): Show c.118-3463_118-3446dupATATATATATATATATAT	DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	1/27			chr5	TogoVar
DIAPH2_chrX_96679842_97609997	96775353	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	147	0.0068	18	c.447 others(37): Show c.447+17117_447+17134dupGTGTGTGTGTGTGTGTGT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	4/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96939484	G G	GTGTGTAT others(11): Show GTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00621.hp1 others(38): Show HG00140.hp1 HG00280.hp1 HG00621.hp1 HG00673.hp1 HG01074.hp1 HG01106.hp1 HG01192.hp1 HG01358.hp1 HG01981.hp1 HG02056.hp1 HG02071.hp1 HG02132.hp1 HG02300.hp1 HG02486.hp1 HG02602.hp1 HG02735.hp1 HG02738.hp1 HG02965.hp1 HG03017.hp1 HG03130.hp1 HG03490.hp1 HG03492.hp1 HG03710.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp1 NA18953.hp1 NA18955.hp1 NA18961.hp1 NA18966.hp1 NA18970.hp1 NA18983.hp1 NA18994.hp1 NA19002.hp1 NA19004.hp1 NA19056.hp1 NA19088.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020	a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0019 others(38): Show a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0133 a0001c0001t0002g0011 a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0103 a0001c0001t0002g0109 a0001c0001t0003g0025 a0001c0001t0004g0147 a0001c0001t0005g0040 a0001c0001t0007g0049 a0001c0001t0007g0101 a0001c0001t0008g0041 a0001c0001t0009g0036 a0001c0001t0009g0099 a0001c0001t0010g0028 a0001c0001t0014g0012 a0001c0001t0015g0144 a0001c0001t0019g0102 a0001c0001t0020g0146	41	147	0.2789	18	c.132 others(35): Show c.1325+103_1325+104insGTGTATATATATATATAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	12/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96939484	G G	GTGTGTGT others(11): Show GTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02055.hp1 others(4): Show HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02280.hp2 HG02647.hp1 HG02809.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0001t0022	a0001c0001t0001g0138 a0001c0001t0002g0139 a0001c0001t0003g0006 others(4): Show a0001c0001t0001g0138 a0001c0001t0002g0139 a0001c0001t0003g0006 a0001c0001t0006g0005 a0001c0001t0012g0143 a0001c0001t0013g0141 a0001c0001t0022g0112	7	147	0.0476	18	c.132 others(35): Show c.1325+103_1325+104insGTGTGTATATATATATAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	12/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96994282	T T	TGAGAGAC others(11): Show TGAGAGACAAAGGGGAAGC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0140 a0001c0004t0001g0140	1	147	0.0068	18	c.205 others(39): Show c.2050+29076_2050+29093dupGAGAGACAAAGGGGAAGC	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	17/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97137270	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20905.hp1 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0031 a0001c0001t0002g0109 a0001c0001t0001g0031 a0001c0001t0002g0109	2	147	0.0136	18	c.259 others(37): Show c.2590-4380_2590-4363dupATATATATATATATATAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	21/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97145282	C C	CAGTAGTA others(11): Show CAGTAGTAGTAGTAGTAGT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0016 a0004c0010t0001g0016	1	147	0.0068	18	c.271 others(37): Show c.2719+3513_2719+3530dupAGTAGTAGTAGTAGTAGT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97300931	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG02486.hp1 others(2): Show HG01069.hp1 HG01071.hp1 HG02486.hp1 HG02738.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0020 a0001c0001t0001g0098 a0001c0001t0002g0008 others(2): Show a0001c0001t0001g0020 a0001c0001t0001g0098 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0003g0025	5	147	0.0340	18	c.284 others(39): Show c.2845-47168_2845-47151dupAAAAAAAAAAAAAAAAAA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	23/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97427657	G G	GTTTTGTT others(11): Show GTTTTGTTTTTGTTTTTGT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	147	0.0068	18	c.314 others(37): Show c.3146-1968_3146-1951dupTTTTGTTTTTGTTTTTGT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	25/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97588996	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01106.hp1 HG01433.hp1 others(28): Show HG00673.hp1 HG01106.hp1 HG01433.hp1 HG01952.hp1 HG02015.hp1 HG02132.hp1 HG02135.hp1 HG02300.hp1 HG02602.hp1 HG03017.hp1 HG03490.hp1 HG03492.hp1 HG04115.hp1 HG04204.hp1 NA18747.hp1 NA18940.hp1 NA18943.hp1 NA18952.hp1 NA18953.hp1 NA18959.hp1 NA18965.hp1 NA18971.hp1 NA18977.hp1 NA18983.hp1 NA18990.hp1 NA19002.hp2 NA19005.hp1 NA19012.hp1 NA19068.hp1 NA19070.hp1 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0008 a0001c0001 a0001c0007 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0001t0019 a0001c0007t0005 a0002c0008t0002	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0026 others(28): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0129 a0001c0001t0002g0011 a0001c0001t0002g0043 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0064 a0001c0001t0002g0080 a0001c0001t0002g0115 a0001c0001t0002g0119 a0001c0001t0002g0124 a0001c0001t0002g0134 a0001c0001t0005g0040 a0001c0001t0007g0101 a0001c0001t0009g0099 a0001c0001t0010g0028 a0001c0001t0010g0094 a0001c0001t0016g0125 a0001c0001t0019g0102 a0001c0007t0005g0131 a0002c0008t0002g0097	31	147	0.2109	18	c.324 others(39): Show c.3242-10243_3242-10226dupTATATATATATATATATA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	26/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH3_chr13_59660583_60168928	59663665	G G	GCACACAC others(11): Show GCACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	208	0.0048	18	c.29 others(29): Show c.2918_*2919insTGTGTGTGTGTGTGTGTG	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding		1917		chr13	TogoVar
DIAPH3_chr13_59660583_60168928	59762052	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02738.hp2 HG01981.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0059 a0001c0001t0001g0061	2	208	0.0096	18	c.331 others(39): Show c.3319+12119_3319+12136dupAAAAAAAAAAAAAAAAAA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	27/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	59802667	A A	ATTATTAT others(11): Show ATTATTATTATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0044 a0002c0003t0002g0044	1	208	0.0048	18	c.316 others(37): Show c.3163+8120_3163+8121insAAAAAAAAATAATAATAA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	25/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	59802667	A A	ATTATTAT others(11): Show ATTATTATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02040.hp2 HG01978.hp2 HG02040.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0038 a0002c0003t0002g0158 a0002c0003t0002g0038 a0002c0003t0002g0158	2	208	0.0096	18	c.316 others(37): Show c.3163+8120_3163+8121insAAAAAAAAAAAATAATAA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	25/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	59905342	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0056 a0002c0003t0002g0056	1	208	0.0048	18	c.236 others(37): Show c.2367+6375_2367+6392dupTTTTTTTTTTTTTTTTTT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	20/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60052959	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0023	1	208	0.0048	18	c.496 others(37): Show c.496-10157_496-10140dupTTTTTTTTTTTTTTTTTT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	4/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60105099	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0116 a0001c0001t0011g0116	1	208	0.0048	18	c.390 others(35): Show c.390+6893_390+6910dupTTTTTTTTTTTTTTTTTT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	3/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60125394	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02129.hp2 HG02132.hp1 others(3): Show HG00544.hp2 HG02129.hp2 HG02132.hp1 HG02683.hp1 NA18960.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0002 a0001c0001t0001 a0001c0006t0002	a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 others(3): Show a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0006t0002g0153	6	208	0.0289	18	c.213 others(35): Show c.213+7545_213+7562dupAAAAAAAAAAAAAAAAAA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	2/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60156918	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0131 a0001c0001t0007g0131	1	208	0.0048	18	c.180 others(35): Show c.180+6651_180+6668dupATATATATATATATATAT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	1/27			chr13	TogoVar
DIDO1_chr20_62872743_62931505	62875308	T T	TCACCCTC others(11): Show TCACCCTCACCCTCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0040 a0001c0028t0001g0040	1	320	0.0031	18	c.39 others(29): Show c.3924_*3925insCGGGTGAGGGTGAGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2434		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875328	A A	ACCCCACC others(11): Show ACCCCACCCCCACCCTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG02602.hp2 HG01257.hp1 HG02602.hp2	a0003 a0029 a0003 a0029	a0003c0003 a0029c0045 a0003c0003 a0029c0045	a0003c0003t0001 a0029c0045t0001 a0003c0003t0001 a0029c0045t0001	a0003c0003t0001g0266 a0029c0045t0001g0242 a0003c0003t0001g0266 a0029c0045t0001g0242	2	320	0.0063	18	c.39 others(29): Show c.3904_*3905insGTGAGGGTGGGGGTGGGG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2414		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875350	T T	TCACCCGC others(11): Show TCACCCGCACCCGCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG02055.hp1 HG02109.hp2 others(6): Show HG01167.hp1 HG02055.hp1 HG02109.hp2 HG02257.hp1 HG02280.hp2 HG02647.hp1 HG02818.hp1 HG03453.hp1 NA19240.hp2	a0005 a0017 a0025 a0005 a0017 a0025	a0005c0005 a0005c0062 a0017c0041 others(1): Show a0005c0005 a0005c0062 a0017c0041 a0025c0059	a0005c0005t0002 a0005c0062t0002 a0017c0041t0002 others(1): Show a0005c0005t0002 a0005c0062t0002 a0017c0041t0002 a0025c0059t0013	a0005c0005t0002g0127 a0005c0005t0002g0154 a0005c0005t0002g0161 others(6): Show a0005c0005t0002g0127 a0005c0005t0002g0154 a0005c0005t0002g0161 a0005c0005t0002g0162 a0005c0005t0002g0207 a0005c0005t0002g0262 a0005c0062t0002g0160 a0017c0041t0002g0263 a0025c0059t0013g0159	9	320	0.0281	18	c.38 others(29): Show c.3882_*3883insGGGGTGCGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2392		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875404	T T	TCACCCTC others(11): Show TCACCCTCACCCTCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02056.hp1 HG01884.hp2 HG02056.hp1	a0011 a0021 a0011 a0021	a0011c0070 a0021c0072 a0011c0070 a0021c0072	a0011c0070t0001 a0021c0072t0001 a0011c0070t0001 a0021c0072t0001	a0011c0070t0001g0130 a0021c0072t0001g0139 a0011c0070t0001g0130 a0021c0072t0001g0139	2	320	0.0063	18	c.38 others(29): Show c.3828_*3829insCGGGTGAGGGTGAGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2338		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62904780	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0258 a0003c0003t0001g0258	1	320	0.0031	18	c.158 others(37): Show c.1588+1089_1588+1106dupTTTTTTTTTTTTTTTTTT	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding	6/15			chr20	TogoVar
DIDO1_chr20_62872743_62931505	62929693	G G	GTATATAT others(11): Show GTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01928.hp1 HG03195.hp1 others(3): Show HG00140.hp1 HG01928.hp1 HG03195.hp1 HG03491.hp1 NA20300.hp2 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0032	a0001c0001 a0002c0015 a0003c0006 others(2): Show a0001c0001 a0002c0015 a0003c0006 a0006c0008 a0032c0039	a0001c0001t0008 a0002c0015t0001 a0003c0006t0001 others(2): Show a0001c0001t0008 a0002c0015t0001 a0003c0006t0001 a0006c0008t0001 a0032c0039t0006	a0001c0001t0008g0047 a0002c0015t0001g0155 a0002c0015t0001g0158 others(3): Show a0001c0001t0008g0047 a0002c0015t0001g0155 a0002c0015t0001g0158 a0003c0006t0001g0250 a0006c0008t0001g0152 a0032c0039t0006g0048	6	320	0.0188	18	c.-34 others(29): Show c.-3455_-3454insTATATATATATATATATA	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		3189		chr20	TogoVar
DIMT1_chr5_62382254_62408905	62389485	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03098.hp1 HG02895.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0190 a0001c0001t0002g0178 a0001c0001t0002g0190	2	404	0.0050	18	c.900 others(33): Show c.900-434_900-433insTTTTTTTTTTTTTTTTTT	DIMT1	ENSG00000086189.11	transcript	ENST00000199320.9	protein_coding	11/11			chr5	TogoVar
DIMT1_chr5_62382254_62408905	62396139	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00597.hp1 others(25): Show HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00733.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01952.hp1 HG02132.hp1 HG02486.hp2 HG02647.hp1 HG02895.hp2 HG02896.hp2 HG03453.hp2 NA18946.hp1 NA18960.hp1 NA18964.hp1 NA18966.hp2 NA18972.hp1 NA18986.hp2 NA19007.hp1 NA19064.hp1 NA19068.hp2 NA19091.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0012 a0001c0001t0002g0140 a0001c0001t0004g0005 others(7): Show a0001c0001t0002g0012 a0001c0001t0002g0140 a0001c0001t0004g0005 a0001c0001t0004g0013 a0001c0001t0004g0024 a0001c0001t0004g0032 a0001c0001t0004g0104 a0001c0001t0004g0121 a0001c0001t0004g0127 a0001c0001t0004g0131	28	404	0.0693	18	c.447 others(35): Show c.447-1533_447-1532insAAAAAAAAAAAAAAAAAA	DIMT1	ENSG00000086189.11	transcript	ENST00000199320.9	protein_coding	6/11			chr5	TogoVar
DIMT1_chr5_62382254_62408905	62399466	C C	CAAAACAA others(11): Show CAAAACAAAAACAAAAACA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	404	0.0025	18	c.241 others(33): Show c.241-603_241-586dupTGTTTTTGTTTTTGTTTT	DIMT1	ENSG00000086189.11	transcript	ENST00000199320.9	protein_coding	3/11			chr5	TogoVar
DIO1_chr1_53889187_53916086	53902990	T T	TCCTGCCC others(11): Show TCCTGCCCTCCACAGCCTC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0275 a0001c0001t0002g0275	1	452	0.0022	18	c.338 others(35): Show c.338-1670_338-1669insCTCCACAGCCTCCCTGCC	DIO1	ENSG00000211452.12	transcript	ENST00000361921.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
DIO1_chr1_53889187_53916086	53902997	T T	TTCCACAG others(11): Show TTCCACAGCCTCCCTGCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(413): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0012 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0008t0002 a0001c0009t0001 a0001c0011t0002 a0002c0010t0002	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(322): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0334 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0054 a0001c0001t0002g0067 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0228 a0001c0001t0002g0242 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0260 a0001c0001t0002g0269 a0001c0001t0002g0276 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0287 a0001c0001t0002g0293 a0001c0001t0002g0302 a0001c0001t0002g0304 a0001c0001t0002g0312 a0001c0001t0002g0319 a0001c0001t0002g0321 a0001c0001t0002g0340 a0001c0001t0002g0345 a0001c0001t0002g0351 a0001c0001t0003g0003 a0001c0001t0003g0044 a0001c0001t0003g0048 a0001c0001t0003g0069 a0001c0001t0003g0080 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0177 a0001c0001t0003g0195 a0001c0001t0003g0199 a0001c0001t0003g0220 a0001c0001t0003g0229 a0001c0001t0003g0244 a0001c0001t0003g0256 a0001c0001t0003g0264 a0001c0001t0003g0297 a0001c0001t0003g0318 a0001c0001t0004g0176 a0001c0001t0004g0251 a0001c0001t0004g0263 a0001c0001t0004g0333 a0001c0001t0005g0077 a0001c0001t0006g0053 a0001c0001t0006g0265 a0001c0001t0006g0335 a0001c0001t0006g0336 a0001c0001t0006g0337 a0001c0001t0007g0045 a0001c0001t0007g0281 a0001c0001t0008g0070 a0001c0001t0009g0350 a0001c0001t0010g0307 a0001c0001t0011g0019 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0061 a0001c0002t0001g0071 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0131 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0002g0123 a0001c0002t0002g0130 a0001c0002t0002g0216 a0001c0002t0003g0021 a0001c0002t0003g0059 a0001c0002t0003g0129 a0001c0002t0003g0136 a0001c0002t0003g0137 a0001c0002t0003g0217 a0001c0002t0004g0015 a0001c0002t0005g0022 a0001c0002t0005g0039 a0001c0002t0005g0062 a0001c0002t0005g0063 a0001c0002t0005g0064 a0001c0002t0012g0119 a0001c0004t0001g0271 a0001c0005t0001g0146 a0001c0006t0001g0339 a0001c0007t0001g0161 a0001c0008t0002g0037 a0001c0009t0001g0257 a0001c0011t0002g0132 a0002c0010t0002g0145	416	452	0.9204	18	c.338 others(35): Show c.338-1668_338-1651dupTCCACAGCCTCCCTGCCC	DIO1	ENSG00000211452.12	transcript	ENST00000361921.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
DIO1_chr1_53889187_53916086	53902997	T T	TTCCACAG others(11): Show TTCCACAGCCTCCTTGCCC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0096 a0001c0001t0013g0096	1	452	0.0022	18	c.338 others(35): Show c.338-1657_338-1656insTTGCCCTCCACAGCCTCC	DIO1	ENSG00000211452.12	transcript	ENST00000361921.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
DIO1_chr1_53889187_53916086	53903013	C C	CCCTCCAC others(11): Show CCCTCCACAGCCTCCCTGT	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18969.hp1 HG02080.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0341 a0001c0001t0001g0323 a0001c0001t0001g0341	2	452	0.0044	18	c.338 others(35): Show c.338-1651_338-1650insTCCACAGCCTCCCTGTCC	DIO1	ENSG00000211452.12	transcript	ENST00000361921.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
DIP2A_chr21_46453891_46575015	46461271	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA19005.hp2 NA18998.hp1 NA19005.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0019 a0001c0004t0001g0018 a0001c0002t0001g0019 a0001c0004t0001g0018	2	374	0.0054	18	c.91+ others(33): Show c.91+2054_91+2071dupAAAAAAAAAAAAAAAAAA	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46477543	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01099.hp1 HG01256.hp1 others(10): Show HG00621.hp1 HG01099.hp1 HG01256.hp1 HG01258.hp1 HG01975.hp1 HG02145.hp2 HG02165.hp2 HG02523.hp2 HG02809.hp2 HG02818.hp2 NA18943.hp2 NA19066.hp1 NA20752.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0020 a0001c0032 a0006c0033	a0001c0001t0001 a0001c0001t0013 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0013 a0001c0002t0001 a0001c0004t0001 a0001c0008t0001 a0001c0008t0002 a0001c0020t0002 a0001c0032t0002 a0006c0033t0002	a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0013g0147 others(10): Show a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0013g0147 a0001c0002t0001g0062 a0001c0004t0001g0036 a0001c0004t0001g0051 a0001c0004t0001g0120 a0001c0004t0001g0121 a0001c0008t0001g0055 a0001c0008t0002g0115 a0001c0020t0002g0141 a0001c0032t0002g0090 a0006c0033t0002g0017	13	374	0.0348	18	c.92- others(33): Show c.92-7206_92-7189dupGTGTGTGTGTGTGTGTGT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46477543	T T	TTTTGTGT others(11): Show TTTTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG02559.hp2 others(6): Show HG01257.hp2 HG01258.hp2 HG02559.hp2 HG02572.hp1 HG02897.hp1 HG02965.hp1 HG02976.hp1 HG03209.hp2 HG03540.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0012 others(2): Show a0001c0005 a0001c0006 a0001c0012 a0001c0013 a0001c0023	a0001c0005t0008 a0001c0006t0004 a0001c0012t0012 others(2): Show a0001c0005t0008 a0001c0006t0004 a0001c0012t0012 a0001c0013t0015 a0001c0023t0004	a0001c0005t0008g0002 a0001c0006t0004g0145 a0001c0006t0004g0170 others(6): Show a0001c0005t0008g0002 a0001c0006t0004g0145 a0001c0006t0004g0170 a0001c0012t0012g0144 a0001c0012t0012g0146 a0001c0012t0012g0166 a0001c0013t0015g0167 a0001c0023t0004g0168 a0001c0023t0004g0169	9	374	0.0241	18	c.92- others(33): Show c.92-7213_92-7212insTTGTGTGTGTGTGTGTGT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46495240	T T	TTCTCTTC others(11): Show TTCTCTTCTTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0322 a0001c0005t0003g0322	1	374	0.0027	18	c.284 others(35): Show c.284-1745_284-1744insCTTCTTCTCTCTCTCTCT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46495244	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02897.hp1 HG03834.hp1 others(3): Show HG00140.hp1 HG02897.hp1 HG03834.hp1 NA18943.hp1 NA18975.hp1 NA19011.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0012 a0001c0003 a0001c0007 a0001c0012	a0001c0003t0003 a0001c0007t0005 a0001c0012t0012 a0001c0003t0003 a0001c0007t0005 a0001c0012t0012	a0001c0003t0003g0346 a0001c0003t0003g0351 a0001c0003t0003g0355 others(3): Show a0001c0003t0003g0346 a0001c0003t0003g0351 a0001c0003t0003g0355 a0001c0003t0003g0357 a0001c0007t0005g0157 a0001c0012t0012g0166	6	374	0.0160	18	c.284 others(35): Show c.284-1726_284-1709dupCTCTCTCTCTCTCTCTCT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46573645	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp2 HG03130.hp1 HG03130.hp2	a0001 a0002 a0001 a0002	a0001c0013 a0002c0019 a0001c0013 a0002c0019	a0001c0013t0015 a0002c0019t0006 a0001c0013t0015 a0002c0019t0006	a0001c0013t0015g0172 a0002c0019t0006g0196 a0001c0013t0015g0172 a0002c0019t0006g0196	2	374	0.0054	18	c.60 others(29): Show c.6023_*6024insAAAAAAAAAAAAAAAAAA	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding		3631		chr21	TogoVar
DIP2B_chr12_50499985_50753657	50501219	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG02809.hp2 HG01975.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0036 a0001c0002t0004 a0001c0001t0036 a0001c0002t0004	a0001c0001t0036g0001 a0001c0002t0004g0216 a0001c0001t0036g0001 a0001c0002t0004g0216	2	284	0.0070	18	c.-39 others(29): Show c.-3922_-3921insAAAAAAAAAAAAAAAAAA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding		3765		chr12	TogoVar
DIP2B_chr12_50499985_50753657	50505001	T T	TGGCGGCG others(11): Show TGGCGGCGGCGGCGGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01257.hp1 HG02559.hp2 NA20805.hp2 HG01257.hp1 HG02559.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0086 a0001c0001t0012g0087 a0001c0001t0012g0102 a0001c0001t0012g0086 a0001c0001t0012g0087 a0001c0001t0012g0102	3	284	0.0106	18	c.-13 others(27): Show c.-134_-117dupCGGCGGCGGCGGCGGCGG	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/38	116	INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50516241	C C	CTCTCTAT others(11): Show CTCTCTATCTCTATCTCTA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03130.hp1 HG02976.hp2 HG03130.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0008 a0001c0008t0008	a0001c0008t0008g0259 a0001c0008t0008g0260 a0001c0008t0008g0259 a0001c0008t0008g0260	2	284	0.0070	18	c.100 others(37): Show c.100+11015_100+11032dupCTCTATCTCTATCTCTAT	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50537114	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00733.hp1 HG01081.hp1 others(3): Show HG00597.hp1 HG00733.hp1 HG01081.hp1 HG02071.hp1 HG03831.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0114 a0001c0001t0001g0122 a0001c0001t0001g0123 others(3): Show a0001c0001t0001g0114 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0002t0003g0126	6	284	0.0211	18	c.100 others(37): Show c.100+31884_100+31901dupTTTTTTTTTTTTTTTTTT	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50559709	C C	CCACACAC others(11): Show CCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0041	a0001c0002t0041g0244 a0001c0002t0041g0244	1	284	0.0035	18	c.100 others(37): Show c.100+54488_100+54505dupCACACACACACACACACA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593707	C C	CCTCCTCT others(11): Show CCTCCTCTCCTCTCCTCCT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	284	0.0035	18	c.101 others(37): Show c.101-32253_101-32252insCTCTCCTCTCCTCTCCTC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar

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