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
UGT2A1_chr4_69583417_69658247	69635828	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp2 HG02818.hp1 HG03710.hp1 others(1): Show HG02145.hp2 HG02818.hp1 HG03710.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0229 a0001c0001t0001g0234 others(1): Show a0001c0001t0001g0138 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0262	4	59	0.0678	19	c.716 others(31): Show c.716-25_716-7dupTTTTTTTTTTTTTTTTTTT	UGT2A1	ENSG00000173610.13	transcript	ENST00000286604.9	protein_coding	2/6			chr4	TogoVar
UGT2A2_chr4_69583417_69644642	69635828	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02818.hp1 HG03710.hp1 others(1): Show HG02145.hp2 HG02818.hp1 HG03710.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 others(1): Show a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0280	4	58	0.0690	19	c.742 others(36): Show c.742+3052_742+3070dupTTTTTTTTTTTTTTTTTTT	UGT2A2	ENSG00000271271.6	transcript	ENST00000604629.6	protein_coding	1/5			chr4	TogoVar
UGT2A3_chr4_68923463_68956804	68939804	A A	AAGTTTGA others(12): Show AAGTTTGAGGGTCATCTGAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0175 a0001c0002t0003g0175	1	458	0.0022	19	c.864 others(36): Show c.864+5501_864+5502insGTCAGATGACCCTCAAACT	UGT2A3	ENSG00000135220.11	transcript	ENST00000251566.9	protein_coding	2/5			chr4	TogoVar
UGT2B4_chr4_69475165_69500905	69500617	G G	GCAAGAAA others(12): Show GCAAGAAAGCAAGAAAGCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0091 a0001c0001t0003g0091	1	434	0.0023	19	c.-47 others(30): Show c.-4757_-4756insTTGCTTTCTTGCTTTCTTG	UGT2B4	ENSG00000156096.15	transcript	ENST00000305107.7	protein_coding		4713		chr4	TogoVar
UGT3A1_chr5_35946006_35996390	35994333	T T	TTTGTTTG others(12): Show TTTGTTTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 NA18965.hp2 HG00621.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0033 a0001c0001t0010 a0001c0001t0033	a0001c0001t0010g0014 a0001c0001t0033g0132 a0001c0001t0010g0014 a0001c0001t0033g0132	2	78	0.0256	19	c.-30 others(30): Show c.-3094_-3093insCACACACACACACAAACAA	UGT3A1	ENSG00000145626.12	transcript	ENST00000274278.8	protein_coding		2944		chr5	TogoVar
UGT3A2_chr5_36030021_36071882	36052468	A A	ACTCCATT others(12): Show ACTCCATTTTCACTCTTTGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(156): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02523.hp1 HG02602.hp2 HG02615.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02886.hp2 HG03017.hp2 HG03453.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp2 NA18990.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19011.hp2 NA19030.hp2 NA19056.hp2 NA19058.hp2 NA19063.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19087.hp2 NA19090.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0005 a0004c0006 a0001c0001 a0001c0005 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0005t0002 a0004c0006t0002	a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0032 others(81): Show a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0097 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0013 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0208 a0001c0001t0003g0010 a0001c0001t0003g0074 a0001c0001t0003g0107 a0001c0001t0005g0016 a0001c0001t0005g0064 a0001c0001t0005g0065 a0001c0001t0005g0084 a0001c0001t0005g0085 a0001c0001t0005g0108 a0001c0001t0007g0021 a0001c0001t0007g0081 a0001c0001t0007g0086 a0001c0001t0012g0071 a0001c0001t0013g0054 a0001c0005t0002g0069 a0004c0006t0002g0099	159	408	0.3897	19	c.197 others(34): Show c.197-503_197-485dupGCAAAGAGTGAAAATGGAG	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding	2/6			chr5	TogoVar
UHRF1_chr19_4904501_4967154	4938730	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02896.hp2 HG03688.hp1 others(3): Show HG02559.hp2 HG02896.hp2 HG03688.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0001c0012 a0001c0014 others(1): Show a0001c0005 a0001c0012 a0001c0014 a0002c0003	a0001c0005t0001 a0001c0012t0006 a0001c0014t0031 others(2): Show a0001c0005t0001 a0001c0012t0006 a0001c0014t0031 a0002c0003t0001 a0002c0003t0015	a0001c0005t0001g0170 a0001c0012t0006g0301 a0001c0014t0031g0263 others(3): Show a0001c0005t0001g0170 a0001c0012t0006g0301 a0001c0014t0031g0263 a0002c0003t0001g0021 a0002c0003t0001g0125 a0002c0003t0015g0152	6	98	0.0612	19	c.786 others(36): Show c.786-2785_786-2767dupTTTTTTTTTTTTTTTTTTT	UHRF1	ENSG00000276043.5	transcript	ENST00000650932.1	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
UHRF2_chr9_6408199_6512054	6445981	C C	CTTTGTTT others(12): Show CTTTGTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	101	0.0099	19	c.644 others(38): Show c.644+11811_644+11812insGTTTTTTTTTTTTTTTTTT	UHRF2	ENSG00000147854.17	transcript	ENST00000276893.10	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
UIMC1_chr5_176900006_177011779	177000498	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01515.hp2 HG01517.hp2 others(13): Show HG00733.hp2 HG01515.hp2 HG01517.hp2 HG01978.hp1 HG02257.hp2 HG02717.hp1 HG02735.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03471.hp1 HG03540.hp2 HG03579.hp1 HG04184.hp1 NA18994.hp1 NA19030.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 a0003c0004t0001 a0003c0004t0002 a0003c0004t0003	a0003c0004t0001g0026 a0003c0004t0001g0027 a0003c0004t0001g0169 others(13): Show a0003c0004t0001g0026 a0003c0004t0001g0027 a0003c0004t0001g0169 a0003c0004t0001g0176 a0003c0004t0001g0177 a0003c0004t0001g0178 a0003c0004t0001g0179 a0003c0004t0001g0180 a0003c0004t0001g0181 a0003c0004t0001g0182 a0003c0004t0001g0183 a0003c0004t0001g0184 a0003c0004t0001g0195 a0003c0004t0001g0197 a0003c0004t0002g0004 a0003c0004t0003g0325	16	288	0.0556	19	c.-9+ others(34): Show c.-9+6133_-9+6151dupAAAAAAAAAAAAAAAAAAA	UIMC1	ENSG00000087206.17	transcript	ENST00000511320.6	protein_coding	1/14			chr5	TogoVar
ULBP3_chr6_150056053_150074121	150071328	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02258.hp2 HG02615.hp1 others(2): Show HG01891.hp1 HG02258.hp2 HG02615.hp1 HG02922.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0013 a0001c0001t0007g0077 a0001c0001t0007g0013 a0001c0001t0007g0077	5	194	0.0258	19	c.-22 others(30): Show c.-2263_-2262insAAAAAAAAAAAAAAAAAAA	ULBP3	ENSG00000131019.11	transcript	ENST00000367339.7	protein_coding		2208		chr6	TogoVar
ULK2_chr17_19765830_19872936	19814438	A A	ATATATAT others(12): Show ATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19080.hp1 NA19077.hp1 NA19080.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0009 a0001c0004t0004g0013 a0001c0004t0004g0009 a0001c0004t0004g0013	2	109	0.0183	19	c.109 others(38): Show c.1096+2310_1096+2311insAAAAAAATATATATATATA	ULK2	ENSG00000083290.20	transcript	ENST00000395544.9	protein_coding	13/26			chr17	TogoVar
ULK4_chr3_41241599_41967103	41469602	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	26	0.0385	19	c.322 others(38): Show c.3227-6368_3227-6350dupTTTTTTTTTTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41506764	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	55	0.0182	19	c.322 others(40): Show c.3227-43512_3227-43511insTTTTTTTTTTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41657818	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0001 a0007c0005t0001	a0007c0005t0001g0064 a0007c0005t0001g0064	1	8	0.1250	19	c.307 others(38): Show c.3071+5788_3071+5789insTTTTTTTTTTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	30/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41794660	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02970.hp1 HG02622.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0049 a0001c0001t0001g0051	2	24	0.0833	19	c.201 others(38): Show c.2011-4836_2011-4818dupTTTTTTTTTTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	20/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41794686	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0014 a0002c0004t0002g0014	1	63	0.0159	19	c.201 others(38): Show c.2011-4844_2011-4843insGTTTTTTTTTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	20/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41891205	G G	GGGGGAAA others(12): Show GGGGGAAAGAAGGGACGGGA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02145.hp2 HG02257.hp2 others(2): Show HG01106.hp1 HG02145.hp2 HG02257.hp2 HG02615.hp1 HG04115.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0024 a0001c0001 a0013c0024	a0001c0001t0001 a0013c0024t0001 a0001c0001t0001 a0013c0024t0001	a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0035 others(2): Show a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0047 a0013c0024t0001g0027	5	36	0.1389	19	c.157 others(38): Show c.1577+4312_1577+4313insTCCCGTCCCTTCTTTCCCC	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	16/36			chr3	TogoVar
UMAD1_chr7_7635752_7884223	7761363	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0122 a0001c0001t0057g0122	1	140	0.0071	19	c.83- others(36): Show c.83-40295_83-40294insAAAAAAAAAAAAAAAAAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMODL1_chr21_42066317_42147996	42128502	A A	AGCATGCG others(12): Show AGCATGCGTCGCAGAACGCG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00609.hp1 others(55): Show HG00597.hp1 HG00597.hp2 HG00609.hp1 HG01257.hp1 HG01358.hp2 HG01884.hp2 HG01891.hp2 HG01975.hp1 HG02074.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02300.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03225.hp2 HG03471.hp1 HG03540.hp2 HG03579.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18962.hp1 NA18966.hp2 NA18967.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18989.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19060.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19090.hp2 NA19091.hp2	a0002 a0007 a0009 others(22): Show a0002 a0007 a0009 a0010 a0017 a0018 a0019 a0021 a0023 a0025 a0026 a0028 a0032 a0057 a0066 a0070 a0071 a0078 a0082 a0087 a0100 a0105 a0110 a0111 a0118	a0002c0005 a0007c0006 a0007c0078 others(29): Show a0002c0005 a0007c0006 a0007c0078 a0009c0017 a0009c0018 a0010c0053 a0010c0057 a0010c0063 a0017c0011 a0018c0021 a0018c0184 a0019c0014 a0021c0034 a0021c0150 a0023c0099 a0025c0028 a0026c0025 a0028c0050 a0028c0087 a0032c0033 a0057c0186 a0066c0081 a0070c0106 a0071c0105 a0078c0098 a0082c0112 a0087c0159 a0100c0126 a0105c0167 a0110c0084 a0111c0089 a0118c0083	a0002c0005t0003 a0007c0006t0001 a0007c0006t0003 others(37): Show a0002c0005t0003 a0007c0006t0001 a0007c0006t0003 a0007c0006t0016 a0007c0006t0029 a0007c0078t0003 a0009c0017t0003 a0009c0017t0006 a0009c0017t0016 a0009c0018t0001 a0009c0018t0003 a0010c0053t0020 a0010c0057t0019 a0010c0063t0001 a0017c0011t0002 a0018c0021t0003 a0018c0184t0003 a0019c0014t0003 a0019c0014t0013 a0021c0034t0001 a0021c0150t0001 a0023c0099t0001 a0025c0028t0001 a0026c0025t0003 a0028c0050t0001 a0028c0050t0003 a0028c0087t0003 a0032c0033t0001 a0057c0186t0003 a0066c0081t0006 a0070c0106t0001 a0071c0105t0019 a0078c0098t0002 a0082c0112t0001 a0087c0159t0001 a0100c0126t0022 a0105c0167t0002 a0110c0084t0003 a0111c0089t0015 a0118c0083t0002	a0002c0005t0003g0049 a0007c0006t0001g0238 a0007c0006t0003g0033 others(53): Show a0002c0005t0003g0049 a0007c0006t0001g0238 a0007c0006t0003g0033 a0007c0006t0003g0186 a0007c0006t0003g0189 a0007c0006t0003g0248 a0007c0006t0003g0252 a0007c0006t0003g0253 a0007c0006t0016g0167 a0007c0006t0029g0065 a0007c0078t0003g0338 a0009c0017t0003g0326 a0009c0017t0003g0327 a0009c0017t0006g0328 a0009c0017t0016g0287 a0009c0018t0001g0125 a0009c0018t0001g0201 a0009c0018t0001g0282 a0009c0018t0003g0319 a0010c0053t0020g0005 a0010c0057t0019g0369 a0010c0063t0001g0361 a0017c0011t0002g0247 a0018c0021t0003g0169 a0018c0021t0003g0210 a0018c0021t0003g0351 a0018c0021t0003g0352 a0018c0184t0003g0172 a0019c0014t0003g0150 a0019c0014t0003g0175 a0019c0014t0003g0182 a0019c0014t0013g0152 a0019c0014t0013g0153 a0021c0034t0001g0359 a0021c0034t0001g0378 a0021c0150t0001g0368 a0023c0099t0001g0221 a0025c0028t0001g0008 a0025c0028t0001g0274 a0026c0025t0003g0034 a0028c0050t0001g0045 a0028c0050t0003g0147 a0028c0087t0003g0231 a0032c0033t0001g0276 a0057c0186t0003g0174 a0066c0081t0006g0302 a0070c0106t0001g0157 a0071c0105t0019g0083 a0078c0098t0002g0243 a0082c0112t0001g0358 a0087c0159t0001g0044 a0100c0126t0022g0073 a0105c0167t0002g0190 a0110c0084t0003g0249 a0111c0089t0015g0120 a0118c0083t0002g0230	58	398	0.1457	19	c.369 others(36): Show c.3690+673_3690+674insATGCGTCGCAGAACGCGGC	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UNC13A_chr19_17596336_17693354	17628108	G G	GGCGTGTT others(12): Show GGCGTGTTGTTGGGGCGGGC	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0002 a0001c0028t0002	a0001c0028t0002g0082 a0001c0028t0002g0082	1	318	0.0031	19	c.375 others(36): Show c.3754-187_3754-169dupGCCCGCCCCAACAACACGC	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	31/43			chr19	TogoVar
UNC13B_chr9_35157009_35410335	35157648	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01168.hp1 HG01346.hp1 others(4): Show HG00741.hp1 HG01168.hp1 HG01346.hp1 HG01952.hp1 HG02055.hp2 HG02622.hp1 NA19002.hp1	a0001 a0004 a0010 a0001 a0004 a0010	a0001c0001 a0001c0013 a0004c0005 others(2): Show a0001c0001 a0001c0013 a0004c0005 a0004c0042 a0010c0019	a0001c0001t0003 a0001c0013t0001 a0004c0005t0001 others(2): Show a0001c0001t0003 a0001c0013t0001 a0004c0005t0001 a0004c0042t0001 a0010c0019t0001	a0001c0001t0003g0013 a0001c0001t0003g0157 a0001c0001t0003g0161 others(4): Show a0001c0001t0003g0013 a0001c0001t0003g0157 a0001c0001t0003g0161 a0001c0013t0001g0001 a0004c0005t0001g0170 a0004c0042t0001g0005 a0010c0019t0001g0166	7	13	0.5385	19	c.-46 others(30): Show c.-4636_-4635insTTTTTTTTTTTTTTTTTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding		4360		chr9	TogoVar
UNC13B_chr9_35157009_35410335	35232177	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02027.hp1 HG02602.hp2 others(4): Show HG01175.hp2 HG02027.hp1 HG02602.hp2 HG03017.hp1 HG03471.hp2 NA18945.hp2 NA19000.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0009 a0014 a0018	a0001c0023 a0002c0003 a0003c0002 others(3): Show a0001c0023 a0002c0003 a0003c0002 a0009c0022 a0014c0018 a0018c0030	a0001c0023t0001 a0002c0003t0001 a0003c0002t0001 others(3): Show a0001c0023t0001 a0002c0003t0001 a0003c0002t0001 a0009c0022t0001 a0014c0018t0007 a0018c0030t0001	a0001c0023t0001g0062 a0002c0003t0001g0207 a0003c0002t0001g0080 others(4): Show a0001c0023t0001g0062 a0002c0003t0001g0207 a0003c0002t0001g0080 a0003c0002t0001g0082 a0009c0022t0001g0102 a0014c0018t0007g0124 a0018c0030t0001g0072	7	34	0.2059	19	c.152 others(34): Show c.152+961_152+979dupTTTTTTTTTTTTTTTTTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13C_chr15_53973441_54633605	54038122	A A	AAAAATTT others(12): Show AAAAATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18906.hp2 HG02258.hp1 NA18906.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0014c0030 a0001c0001 a0014c0030	a0001c0001t0014 a0014c0030t0014 a0001c0001t0014 a0014c0030t0014	a0001c0001t0014g0083 a0014c0030t0014g0084 a0001c0001t0014g0083 a0014c0030t0014g0084	2	83	0.0241	19	c.298 others(40): Show c.2983+22236_2983+22237insAAAATTTTTTTTTTTTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32			chr15	TogoVar
UNC13C_chr15_53973441_54633605	54038124	A A	ATATTTTT others(12): Show ATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0054 a0002c0019t0054	a0002c0019t0054g0059 a0002c0019t0054g0059	1	19	0.0526	19	c.298 others(40): Show c.2983+22239_2983+22240insATTTTTTTTTTTTTTTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54138953	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01978.hp2 NA20300.hp2 HG01169.hp2 HG01978.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0015 a0001c0002t0008 a0001c0001t0007 a0001c0001t0015 a0001c0002t0008	a0001c0001t0007g0006 a0001c0001t0015g0070 a0001c0002t0008g0075 a0001c0001t0007g0006 a0001c0001t0015g0070 a0001c0002t0008g0075	3	8	0.3750	19	c.298 others(38): Show c.2984-4058_2984-4040dupTTTTTTTTTTTTTTTTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54408199	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0001 a0001c0035t0001g0001	1	36	0.0278	19	c.484 others(38): Show c.4848-6771_4848-6753dupAAAAAAAAAAAAAAAAAAA	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	18/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54463269	G G	GGGGGGGG others(12): Show GGGGGGGGGGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0058 a0001c0034t0058	a0001c0034t0058g0149 a0001c0034t0058g0149	1	156	0.0064	19	c.493 others(40): Show c.4934-31326_4934-31325insGGGGGTGGGGGGGGGGGGG	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC5A_chr5_176805559_176885898	176858774	G G	GGAAGGAA others(12): Show GGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	74	0.0135	19	c.71- others(34): Show c.71-3849_71-3848insAAGGAAGGAAGGAAGGAAG	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5C_chr4_95157504_95553973	95258746	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02602.hp1 NA18954.hp2 others(3): Show HG00544.hp2 HG02602.hp1 NA18954.hp2 NA18969.hp1 NA19004.hp1 NA19006.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0005 a0001c0006 a0002c0002 others(1): Show a0001c0005 a0001c0006 a0002c0002 a0007c0033	a0001c0005t0001 a0001c0006t0001 a0002c0002t0005 others(2): Show a0001c0005t0001 a0001c0006t0001 a0002c0002t0005 a0002c0002t0036 a0007c0033t0002	a0001c0005t0001g0087 a0001c0006t0001g0007 a0002c0002t0005g0094 others(3): Show a0001c0005t0001g0087 a0001c0006t0001g0007 a0002c0002t0005g0094 a0002c0002t0005g0161 a0002c0002t0036g0090 a0007c0033t0002g0048	6	110	0.0545	19	c.595 others(36): Show c.595-8098_595-8080dupAAAAAAAAAAAAAAAAAAA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	4/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95301279	T T	TCTGCCTC others(12): Show TCTGCCTCCTGGGTTCAGGC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0059 a0001c0003t0001g0059	1	204	0.0049	19	c.490 others(34): Show c.490+308_490+326dupGCCTGAACCCAGGAGGCAG	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	3/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95354479	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02818.hp2 HG03486.hp2 others(1): Show HG02559.hp2 HG02818.hp2 HG03486.hp2 HG04228.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0001 a0001c0004t0003 others(1): Show a0001c0003t0001 a0001c0004t0001 a0001c0004t0003 a0001c0004t0016	a0001c0003t0001g0031 a0001c0004t0001g0009 a0001c0004t0003g0014 others(1): Show a0001c0003t0001g0031 a0001c0004t0001g0009 a0001c0004t0003g0014 a0001c0004t0016g0058	4	149	0.0268	19	c.125 others(38): Show c.125-18849_125-18848insAAATATATATATATATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95354479	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0006 a0001c0012t0006	a0001c0012t0006g0156 a0001c0012t0006g0156	1	146	0.0068	19	c.125 others(38): Show c.125-18849_125-18848insAAAAATATATATATATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95354479	A A	ATATATAT others(12): Show ATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0034 a0001c0014t0034	a0001c0014t0034g0190 a0001c0014t0034g0190	1	146	0.0068	19	c.125 others(38): Show c.125-18849_125-18848insAAAAAAATATATATATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95398044	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0001 a0002c0024t0001	a0002c0024t0001g0067 a0002c0024t0001g0067	1	50	0.0200	19	c.125 others(38): Show c.125-62432_125-62414dupAAAAAAAAAAAAAAAAAAA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95424518	C C	CTTTCTTT others(12): Show CTTTCTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01515.hp2 HG03834.hp2 others(1): Show HG00639.hp1 HG01515.hp2 HG03834.hp2 NA20905.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0003 a0002c0001 a0005c0038 a0001c0003 a0002c0001 a0005c0038	a0001c0003t0001 a0002c0001t0002 a0002c0001t0017 others(1): Show a0001c0003t0001 a0002c0001t0002 a0002c0001t0017 a0005c0038t0002	a0001c0003t0001g0111 a0002c0001t0002g0102 a0002c0001t0017g0204 others(1): Show a0001c0003t0001g0111 a0002c0001t0002g0102 a0002c0001t0017g0204 a0005c0038t0002g0153	4	74	0.0541	19	c.125 others(38): Show c.125-88888_125-88887insAAAAAAAAAAAAAAAGAAA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95424518	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00733.hp1 HG01081.hp2 others(6): Show HG00597.hp2 HG00733.hp1 HG01081.hp2 HG02132.hp2 HG02572.hp1 HG02895.hp2 HG03486.hp1 NA18944.hp1 NA18949.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0001c0019 a0001c0037 others(5): Show a0001c0004 a0001c0019 a0001c0037 a0002c0001 a0002c0002 a0002c0036 a0002c0043 a0003c0013	a0001c0004t0001 a0001c0019t0010 a0001c0037t0037 others(6): Show a0001c0004t0001 a0001c0019t0010 a0001c0037t0037 a0002c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0036t0022 a0002c0043t0002 a0003c0013t0009	a0001c0004t0001g0196 a0001c0019t0010g0055 a0001c0037t0037g0199 others(6): Show a0001c0004t0001g0196 a0001c0019t0010g0055 a0001c0037t0037g0199 a0002c0001t0001g0026 a0002c0002t0001g0071 a0002c0002t0002g0142 a0002c0036t0022g0104 a0002c0043t0002g0012 a0003c0013t0009g0133	9	79	0.1139	19	c.125 others(38): Show c.125-88906_125-88888dupAAAAAAAAAAAAAAAAAAA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95536082	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0008 a0002c0002t0002g0008	1	139	0.0072	19	c.124 others(38): Show c.124+12651_124+12652insAAAAATATATATATATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5D_chr8_35230475_35801540	35230512	C C	CACACACA others(12): Show CACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0045 a0001c0002t0008g0045	1	21	0.0476	19	c.-52 others(30): Show c.-5273_-5272insACACACACACACACACACA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding		4962		chr8	TogoVar
UNC5D_chr8_35230475_35801540	35749989	T T	TTTGTAAA others(12): Show TTTGTAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp2 HG03209.hp1 HG02622.hp1 HG02622.hp2 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0008 a0001c0002t0020 a0001c0006t0004 a0001c0002t0008 a0001c0002t0020 a0001c0006t0004	a0001c0002t0008g0047 a0001c0002t0020g0002 a0001c0006t0004g0031 a0001c0002t0008g0047 a0001c0002t0020g0002 a0001c0006t0004g0031	3	26	0.1154	19	c.193 others(36): Show c.1936-593_1936-592insTTGTAAAAAAAAAAAAAAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	12/16			chr8	TogoVar
UNC79_chr14_93425939_93712876	93695890	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00673.hp1 HG01496.hp1 others(12): Show HG00597.hp2 HG00673.hp1 HG01496.hp1 HG01516.hp2 HG01975.hp1 HG02273.hp1 HG02809.hp2 HG02922.hp1 HG03654.hp1 HG03704.hp1 NA18962.hp2 NA18984.hp1 NA19012.hp2 NA19062.hp2 NA19081.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0001c0005 a0001c0016 others(7): Show a0001c0001 a0001c0005 a0001c0016 a0002c0003 a0002c0007 a0002c0008 a0002c0015 a0002c0017 a0002c0038 a0012c0027	a0001c0001t0001 a0001c0005t0001 a0001c0016t0001 others(7): Show a0001c0001t0001 a0001c0005t0001 a0001c0016t0001 a0002c0003t0001 a0002c0007t0001 a0002c0008t0001 a0002c0015t0001 a0002c0017t0001 a0002c0038t0001 a0012c0027t0001	a0001c0001t0001g0090 a0001c0005t0001g0010 a0001c0016t0001g0188 others(12): Show a0001c0001t0001g0090 a0001c0005t0001g0010 a0001c0016t0001g0188 a0002c0003t0001g0106 a0002c0003t0001g0112 a0002c0003t0001g0115 a0002c0003t0001g0116 a0002c0003t0001g0142 a0002c0003t0001g0150 a0002c0007t0001g0082 a0002c0008t0001g0141 a0002c0015t0001g0160 a0002c0017t0001g0175 a0002c0038t0001g0105 a0012c0027t0001g0068	15	75	0.2000	19	c.788 others(38): Show c.7881+1480_7881+1498dupAAAAAAAAAAAAAAAAAAA	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	50/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC80_chr2_209766832_210004296	209770997	G G	GGGAGGAG others(12): Show GGGAGGAGGAGGAAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02559.hp2 HG02622.hp1 others(1): Show HG02055.hp1 HG02559.hp2 HG02622.hp1 HG03540.hp1	a0001 a0011 a0001 a0011	a0001c0013 a0001c0022 a0011c0051 a0001c0013 a0001c0022 a0011c0051	a0001c0013t0002 a0001c0013t0010 a0001c0022t0017 others(1): Show a0001c0013t0002 a0001c0013t0010 a0001c0022t0017 a0011c0051t0001	a0001c0013t0002g0183 a0001c0013t0010g0181 a0001c0022t0017g0180 others(1): Show a0001c0013t0002g0183 a0001c0013t0010g0181 a0001c0022t0017g0180 a0011c0051t0001g0182	4	186	0.0215	19	c.-10 others(30): Show c.-1076_-1075insGGAGGAGGAGGAAGAAGAA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding		834		chr2	TogoVar
UNC93A_chr6_167286315_167321014	167295452	C C	CGCCTCCC others(12): Show CGCCTCCCTCGTGATCCTCG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02572.hp1 NA18961.hp2 others(2): Show HG01978.hp2 HG02572.hp1 NA18961.hp2 NA18990.hp2 NA19079.hp1	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0018	a0001c0001 a0002c0002 a0010c0014 others(1): Show a0001c0001 a0002c0002 a0010c0014 a0018c0045	a0001c0001t0001 a0002c0002t0004 a0010c0014t0001 others(1): Show a0001c0001t0001 a0002c0002t0004 a0010c0014t0001 a0018c0045t0005	a0001c0001t0001g0285 a0002c0002t0004g0052 a0010c0014t0001g0284 others(1): Show a0001c0001t0001g0285 a0002c0002t0004g0052 a0010c0014t0001g0284 a0018c0045t0005g0096	5	432	0.0116	19	c.270 others(34): Show c.270-568_270-567insATCCTCGGCCTCCCTCGTG	UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UNC93A_chr6_167286315_167321014	167295483	A A	ATCCTCGG others(12): Show ATCCTCGGCCTCCCTCGTGC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp2 HG03225.hp1 HG02145.hp1 HG02486.hp2 HG03225.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0003 a0005c0010 a0001c0001 a0003c0003 a0005c0010	a0001c0001t0001 a0003c0003t0006 a0005c0010t0005 a0001c0001t0001 a0003c0003t0006 a0005c0010t0005	a0001c0001t0001g0093 a0003c0003t0006g0095 a0005c0010t0005g0088 a0001c0001t0001g0093 a0003c0003t0006g0095 a0005c0010t0005g0088	3	334	0.0090	19	c.270 others(34): Show c.270-549_270-548insTCCTCGGCCTCCCTCGTGC	UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7			chr6	TogoVar
UNC93B1_chr11_67986100_68009097	67987215	G G	GTAAATAA others(12): Show GTAAATAAAATAAAATAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	179	0.0056	19	c.43 others(30): Show c.4330_*4331insTTTTATTTTATTTTATTTA	UNC93B1	ENSG00000110057.9	transcript	ENST00000227471.7	protein_coding		3884		chr11	TogoVar
UNKL_chr16_1358205_1419704	1366889	A A	AGGAAAGG others(12): Show AGGAAAGGCGGCTCCCAGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(269): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 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.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.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 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0013 a0014	a0001c0001 a0001c0003 a0001c0008 others(24): Show a0001c0001 a0001c0003 a0001c0008 a0001c0011 a0001c0012 a0001c0013 a0001c0027 a0001c0028 a0002c0002 a0002c0006 a0002c0009 a0002c0014 a0002c0018 a0002c0019 a0002c0030 a0003c0004 a0004c0010 a0004c0031 a0005c0015 a0006c0025 a0007c0023 a0008c0029 a0009c0021 a0011c0017 a0012c0024 a0013c0016 a0014c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(75): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0032 a0001c0001t0034 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0049 a0001c0001t0052 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0070 a0001c0003t0001 a0001c0003t0036 a0001c0003t0045 a0001c0008t0024 a0001c0008t0043 a0001c0011t0006 a0001c0012t0019 a0001c0012t0053 a0001c0013t0030 a0001c0027t0019 a0001c0028t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0009 a0002c0002t0011 a0002c0002t0023 a0002c0002t0031 a0002c0002t0033 a0002c0002t0048 a0002c0002t0062 a0002c0002t0069 a0002c0006t0003 a0002c0006t0044 a0002c0006t0051 a0002c0009t0001 a0002c0014t0063 a0002c0018t0008 a0002c0019t0001 a0002c0030t0002 a0003c0004t0003 a0004c0010t0002 a0004c0031t0002 a0005c0015t0012 a0006c0025t0003 a0007c0023t0050 a0008c0029t0002 a0009c0021t0047 a0011c0017t0001 a0012c0024t0035 a0013c0016t0003 a0014c0026t0004	a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0032 others(267): Show a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0106 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0268 a0001c0001t0001g0282 a0001c0001t0001g0294 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0023 a0001c0001t0002g0049 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0089 a0001c0001t0002g0093 a0001c0001t0002g0107 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0193 a0001c0001t0002g0198 a0001c0001t0002g0201 a0001c0001t0002g0219 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0226 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0242 a0001c0001t0002g0250 a0001c0001t0002g0259 a0001c0001t0002g0269 a0001c0001t0002g0292 a0001c0001t0003g0018 a0001c0001t0003g0205 a0001c0001t0003g0245 a0001c0001t0003g0255 a0001c0001t0003g0291 a0001c0001t0004g0079 a0001c0001t0004g0104 a0001c0001t0004g0168 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0247 a0001c0001t0004g0274 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0004g0286 a0001c0001t0004g0305 a0001c0001t0005g0099 a0001c0001t0005g0174 a0001c0001t0005g0221 a0001c0001t0005g0227 a0001c0001t0005g0228 a0001c0001t0005g0229 a0001c0001t0005g0295 a0001c0001t0006g0001 a0001c0001t0006g0097 a0001c0001t0006g0098 a0001c0001t0006g0220 a0001c0001t0006g0249 a0001c0001t0006g0256 a0001c0001t0008g0264 a0001c0001t0009g0218 a0001c0001t0009g0225 a0001c0001t0009g0230 a0001c0001t0009g0240 a0001c0001t0009g0258 a0001c0001t0010g0055 a0001c0001t0010g0056 a0001c0001t0010g0057 a0001c0001t0010g0059 a0001c0001t0010g0062 a0001c0001t0010g0179 a0001c0001t0011g0257 a0001c0001t0011g0266 a0001c0001t0011g0293 a0001c0001t0012g0054 a0001c0001t0012g0058 a0001c0001t0012g0060 a0001c0001t0013g0020 a0001c0001t0013g0021 a0001c0001t0013g0022 a0001c0001t0013g0178 a0001c0001t0014g0285 a0001c0001t0014g0287 a0001c0001t0014g0288 a0001c0001t0014g0289 a0001c0001t0018g0210 a0001c0001t0018g0254 a0001c0001t0022g0246 a0001c0001t0022g0248 a0001c0001t0025g0303 a0001c0001t0025g0304 a0001c0001t0026g0053 a0001c0001t0026g0171 a0001c0001t0029g0061 a0001c0001t0032g0063 a0001c0001t0032g0064 a0001c0001t0034g0111 a0001c0001t0038g0162 a0001c0001t0039g0231 a0001c0001t0041g0203 a0001c0001t0042g0302 a0001c0001t0049g0095 a0001c0001t0052g0161 a0001c0001t0058g0224 a0001c0001t0059g0296 a0001c0001t0060g0239 a0001c0001t0061g0126 a0001c0001t0064g0043 a0001c0001t0065g0147 a0001c0001t0066g0206 a0001c0001t0067g0016 a0001c0001t0070g0065 a0001c0003t0001g0080 a0001c0003t0001g0082 a0001c0003t0001g0121 a0001c0003t0001g0122 a0001c0003t0001g0123 a0001c0003t0001g0124 a0001c0003t0001g0134 a0001c0003t0001g0136 a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0169 a0001c0003t0001g0261 a0001c0003t0001g0265 a0001c0003t0036g0116 a0001c0003t0045g0165 a0001c0008t0024g0251 a0001c0008t0024g0252 a0001c0008t0043g0105 a0001c0011t0006g0094 a0001c0011t0006g0096 a0001c0012t0019g0301 a0001c0012t0053g0015 a0001c0013t0030g0013 a0001c0013t0030g0014 a0001c0027t0019g0184 a0001c0028t0003g0204 a0002c0002t0001g0025 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0031 a0002c0002t0001g0033 a0002c0002t0001g0036 a0002c0002t0001g0039 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0048 a0002c0002t0001g0052 a0002c0002t0001g0068 a0002c0002t0001g0071 a0002c0002t0001g0118 a0002c0002t0001g0128 a0002c0002t0001g0135 a0002c0002t0001g0146 a0002c0002t0001g0159 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0002t0001g0199 a0002c0002t0001g0271 a0002c0002t0002g0024 a0002c0002t0002g0041 a0002c0002t0002g0100 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0241 a0002c0002t0003g0042 a0002c0002t0008g0066 a0002c0002t0008g0085 a0002c0002t0008g0143 a0002c0002t0009g0235 a0002c0002t0011g0026 a0002c0002t0023g0270 a0002c0002t0023g0290 a0002c0002t0031g0091 a0002c0002t0031g0200 a0002c0002t0033g0050 a0002c0002t0048g0067 a0002c0002t0062g0086 a0002c0002t0069g0188 a0002c0006t0003g0108 a0002c0006t0003g0112 a0002c0006t0003g0114 a0002c0006t0044g0110 a0002c0006t0051g0109 a0002c0009t0001g0176 a0002c0009t0001g0260 a0002c0014t0063g0003 a0002c0018t0008g0243 a0002c0019t0001g0035 a0002c0030t0002g0101 a0003c0004t0003g0175 a0003c0004t0003g0177 a0003c0004t0003g0197 a0003c0004t0003g0207 a0003c0004t0003g0208 a0003c0004t0003g0209 a0003c0004t0003g0211 a0003c0004t0003g0212 a0003c0004t0003g0214 a0003c0004t0003g0215 a0004c0010t0002g0077 a0004c0010t0002g0183 a0004c0031t0002g0311 a0005c0015t0012g0019 a0006c0025t0003g0213 a0007c0023t0050g0103 a0008c0029t0002g0244 a0009c0021t0047g0113 a0011c0017t0001g0087 a0012c0024t0035g0074 a0013c0016t0003g0190 a0014c0026t0004g0279	272	320	0.8500	19	c.204 others(36): Show c.2046+184_2046+202dupCCCTGGGAGCCGCCTTTCC	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	14/14			chr16	TogoVar
UNKL_chr16_1358205_1419704	1366891	G G	GAAAGGCG others(12): Show GAAAGGCGGCTCCCAGGGGA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0236 a0002c0002t0001g0236	1	320	0.0031	19	c.204 others(36): Show c.2046+200_2046+201insTCCCCTGGGAGCCGCCTTT	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	14/14			chr16	TogoVar
UNK_chr17_75779806_75830799	75782239	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG02135.hp2 HG02165.hp1 others(5): Show HG01074.hp1 HG02135.hp2 HG02165.hp1 HG03490.hp1 HG03579.hp1 NA18949.hp2 NA19060.hp2 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 others(2): Show a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007	a0001c0002t0001 a0001c0003t0002 a0001c0005t0001 others(2): Show a0001c0002t0001 a0001c0003t0002 a0001c0005t0001 a0001c0006t0001 a0001c0007t0002	a0001c0002t0001g0025 a0001c0003t0002g0088 a0001c0003t0002g0250 others(5): Show a0001c0002t0001g0025 a0001c0003t0002g0088 a0001c0003t0002g0250 a0001c0005t0001g0102 a0001c0006t0001g0258 a0001c0007t0002g0084 a0001c0007t0002g0226 a0001c0007t0002g0229	8	111	0.0721	19	c.-26 others(30): Show c.-2642_-2641insTTTTTTTTTTTTTTTTTTT	UNK	ENSG00000132478.10	transcript	ENST00000589666.6	protein_coding		2566		chr17	TogoVar
UNK_chr17_75779806_75830799	75782244	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0261 a0001c0003t0002g0261	1	356	0.0028	19	c.-26 others(30): Show c.-2637_-2636insTTTTTTTTTTTTTTTTTTA	UNK	ENSG00000132478.10	transcript	ENST00000589666.6	protein_coding		2561		chr17	TogoVar
UPF2_chr10_11915022_12047809	11938853	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0250 a0001c0002t0001g0250	1	63	0.0159	19	c.337 others(38): Show c.3379-2160_3379-2142dupAAAAAAAAAAAAAAAAAAA	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	18/21			chr10	TogoVar
UPF3B_chrX_119829022_119857963	119851748	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02922.hp1 HG03471.hp1 others(1): Show HG02647.hp1 HG02922.hp1 HG03471.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0020 a0001c0001t0001g0047 a0001c0001t0001g0048	4	6	0.6667	19	c.263 others(32): Show c.263+18_263+19insAAAAAAAAAAAAAAAAAAA	UPF3B	ENSG00000125351.14	transcript	ENST00000276201.7	protein_coding	2/10			chrX	TogoVar

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