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
UGT1A9_chr2_233666898_233778300	233725219	G G	GGGCGAGG others(14): Show GGGCGAGGGCGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0055 a0001c0001t0005g0055	1	275	0.0036	21	c.856 others(40): Show c.856-41814_856-41813insGCGAGGGCGAGGGAGAGGGAG	UGT1A9	ENSG00000241119.2	transcript	ENST00000354728.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A9_chr2_233666898_233778300	233725264	G G	GGCAGAGG others(14): Show GGCAGAGGCAGAGGCAGAGGCA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	167	0.0060	21	c.856 others(40): Show c.856-41769_856-41768insCAGAGGCAGAGGCAGAGGCAG	UGT1A9	ENSG00000241119.2	transcript	ENST00000354728.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT2A1_chr4_69583417_69658247	69635828	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	56	0.0179	21	c.716 others(33): Show c.716-27_716-7dupTTTTTTTTTTTTTTTTTTTTT	UGT2A1	ENSG00000173610.13	transcript	ENST00000286604.9	protein_coding	2/6			chr4	TogoVar
UGT2A2_chr4_69583417_69644642	69635828	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	55	0.0182	21	c.742 others(38): Show c.742+3050_742+3070dupTTTTTTTTTTTTTTTTTTTTT	UGT2A2	ENSG00000271271.6	transcript	ENST00000604629.6	protein_coding	1/5			chr4	TogoVar
UGT2A3_chr4_68923463_68956804	68947967	T T	TTTGTTGT others(14): Show TTTGTTGTTCATTGATATAACA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0166 a0001c0002t0003g0166	1	458	0.0022	21	c.716 others(38): Show c.716-2514_716-2513insTGTTATATCAATGAACAACAA	UGT2A3	ENSG00000135220.11	transcript	ENST00000251566.9	protein_coding	1/5			chr4	TogoVar
UHRF1_chr19_4904501_4967154	4938730	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02027.hp1 HG02572.hp1 HG01168.hp1 HG02027.hp1 HG02572.hp1	a0001 a0001	a0001c0013 a0001c0021 a0001c0023 a0001c0013 a0001c0021 a0001c0023	a0001c0013t0003 a0001c0021t0009 a0001c0023t0002 a0001c0013t0003 a0001c0021t0009 a0001c0023t0002	a0001c0013t0003g0249 a0001c0021t0009g0298 a0001c0023t0002g0040 a0001c0013t0003g0249 a0001c0021t0009g0298 a0001c0023t0002g0040	3	95	0.0316	21	c.786 others(38): Show c.786-2787_786-2767dupTTTTTTTTTTTTTTTTTTTTT	UHRF1	ENSG00000276043.5	transcript	ENST00000650932.1	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
UHRF2_chr9_6408199_6512054	6487182	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	127	0.0079	21	c.149 others(38): Show c.1497+262_1497+282dupTTTTTTTTTTTTTTTTTTTTT	UHRF2	ENSG00000147854.17	transcript	ENST00000276893.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
ULBP3_chr6_150056053_150074121	150071328	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0016 a0004c0006t0016	a0004c0006t0016g0024 a0004c0006t0016g0024	1	190	0.0053	21	c.-22 others(32): Show c.-2263_-2262insAAAAAAAAAAAAAAAAAAAAA	ULBP3	ENSG00000131019.11	transcript	ENST00000367339.7	protein_coding		2208		chr6	TogoVar
ULK1_chr12_131889622_131928150	131917123	G G	GTCGGAGG others(14): Show GTCGGAGGCTGTGGGATGGGGC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	203	0.0049	21	c.218 others(36): Show c.2182+81_2182+82insCTCGGAGGCTGTGGGATGGGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917248	C C	CTCGGAGG others(14): Show CTCGGAGGCTGTGGGATGGGGG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0025 a0002c0008t0025	a0002c0008t0025g0154 a0002c0008t0025g0154	1	332	0.0030	21	c.218 others(38): Show c.2183-148_2183-147insTGGGGGTCGGAGGCTGTGGGA	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK2_chr17_19765830_19872936	19814438	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0015 a0001c0004t0011g0015	1	108	0.0093	21	c.109 others(40): Show c.1096+2310_1096+2311insAAAAAAAAATATATATATATA	ULK2	ENSG00000083290.20	transcript	ENST00000395544.9	protein_coding	13/26			chr17	TogoVar
ULK4_chr3_41241599_41967103	41412553	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0001 a0007c0005t0001	a0007c0005t0001g0066 a0007c0005t0001g0066	1	18	0.0556	21	c.349 others(42): Show c.3493-14310_3493-14290dupAAAAAAAAAAAAAAAAAAAAA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	34/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41431547	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01071.hp1 HG02970.hp2 others(1): Show HG00735.hp2 HG01071.hp1 HG02970.hp2 HG02976.hp1	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0005c0006 a0008c0010 a0001c0001 a0005c0006 a0008c0010	a0001c0001t0001 a0005c0006t0004 a0008c0010t0002 a0001c0001t0001 a0005c0006t0004 a0008c0010t0002	a0001c0001t0001g0038 a0001c0001t0001g0043 a0005c0006t0004g0001 others(1): Show a0001c0001t0001g0038 a0001c0001t0001g0043 a0005c0006t0004g0001 a0008c0010t0002g0056	4	30	0.1333	21	c.349 others(42): Show c.3492+23949_3492+23950insAAAAAAAAAAAAAAAAAAAAA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	34/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41506764	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	55	0.0182	21	c.322 others(42): Show c.3227-43512_3227-43511insTTTTTTTTTTTTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41506767	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	21	0.0476	21	c.322 others(42): Show c.3227-43515_3227-43514insATATATATATTTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41735687	T T	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0069	1	31	0.0323	21	c.232 others(42): Show c.2322-17847_2322-17827dupTAATAATAATAATAATAATAA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	22/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41901479	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01109.hp1 HG01243.hp1 others(4): Show HG01081.hp2 HG01109.hp1 HG01243.hp1 HG01433.hp1 HG02145.hp2 HG03209.hp2 NA19043.hp1	a0001 a0006 a0014 others(1): Show a0001 a0006 a0014 a0021	a0001c0001 a0006c0007 a0014c0022 others(1): Show a0001c0001 a0006c0007 a0014c0022 a0021c0019	a0001c0001t0001 a0001c0001t0003 a0006c0007t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0006c0007t0001 a0014c0022t0001 a0021c0019t0003	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0003g0069 others(4): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0003g0069 a0001c0001t0003g0070 a0006c0007t0001g0023 a0014c0022t0001g0029 a0021c0019t0003g0071	7	22	0.3182	21	c.118 others(38): Show c.1183-651_1183-650insAAAAAAAAAAAAAAAAAAAAA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	12/36			chr3	TogoVar
UMAD1_chr7_7635752_7884223	7767128	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA19011.hp1 NA19011.hp2 others(1): Show HG02622.hp1 NA19011.hp1 NA19011.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0017	a0001c0001t0002g0083 a0001c0001t0003g0172 a0001c0001t0004g0142 others(1): Show a0001c0001t0002g0083 a0001c0001t0003g0172 a0001c0001t0004g0142 a0001c0001t0017g0202	4	150	0.0267	21	c.83- others(38): Show c.83-34528_83-34527insTTTTTTTTTTTTTTTTTTTTT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7796244	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03209.hp1 HG02723.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0022 a0001c0001t0003 a0001c0001t0022	a0001c0001t0003g0238 a0001c0001t0022g0239 a0001c0001t0003g0238 a0001c0001t0022g0239	2	27	0.0741	21	c.83- others(36): Show c.83-5422_83-5402dupTTTTTTTTTTTTTTTTTTTTT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7852395	A A	AGATCCCA others(14): Show AGATCCCACAGATTGTGGGCTC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0045 a0001c0001t0011g0045	1	248	0.0040	21	c.157 others(40): Show c.157-24885_157-24865dupGATCCCACAGATTGTGGGCTC	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UNC13B_chr9_35157009_35410335	35157648	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01175.hp1 HG02451.hp1 others(3): Show HG01074.hp1 HG01175.hp1 HG02451.hp1 HG02895.hp2 HG03098.hp2 HG03130.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0002c0011 a0005c0006 others(1): Show a0001c0001 a0002c0011 a0005c0006 a0006c0008	a0001c0001t0001 a0002c0011t0001 a0005c0006t0001 others(1): Show a0001c0001t0001 a0002c0011t0001 a0005c0006t0001 a0006c0008t0002	a0001c0001t0001g0197 a0002c0011t0001g0179 a0005c0006t0001g0203 others(3): Show a0001c0001t0001g0197 a0002c0011t0001g0179 a0005c0006t0001g0203 a0005c0006t0001g0209 a0006c0008t0002g0002 a0006c0008t0002g0003	6	12	0.5000	21	c.-46 others(32): Show c.-4636_-4635insTTTTTTTTTTTTTTTTTTTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding		4360		chr9	TogoVar
UNC13B_chr9_35157009_35410335	35161206	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0205 a0002c0003t0001g0205	1	77	0.0130	21	c.-10 others(32): Show c.-1078_-1077insAATAATAATAATAATAATAAT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding		802		chr9	TogoVar
UNC13B_chr9_35157009_35410335	35232177	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18951.hp2 NA18990.hp1 NA18942.hp2 NA18951.hp2 NA18990.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0002 a0006c0008 a0001c0001 a0003c0002 a0006c0008	a0001c0001t0001 a0003c0002t0001 a0006c0008t0002 a0001c0001t0001 a0003c0002t0001 a0006c0008t0002	a0001c0001t0001g0097 a0003c0002t0001g0056 a0006c0008t0002g0057 a0001c0001t0001g0097 a0003c0002t0001g0056 a0006c0008t0002g0057	3	30	0.1000	21	c.152 others(36): Show c.152+959_152+979dupTTTTTTTTTTTTTTTTTTTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35297553	T T	TTTTGTTT others(14): Show TTTTGTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18945.hp2 NA18968.hp2 HG00423.hp2 NA18945.hp2 NA18968.hp2	a0002 a0014 a0002 a0014	a0002c0003 a0014c0018 a0002c0003 a0014c0018	a0002c0003t0001 a0014c0018t0001 a0014c0018t0007 a0002c0003t0001 a0014c0018t0001 a0014c0018t0007	a0002c0003t0001g0049 a0014c0018t0001g0123 a0014c0018t0007g0124 a0002c0003t0001g0049 a0014c0018t0001g0123 a0014c0018t0007g0124	3	221	0.0136	21	c.761 others(38): Show c.761+1626_761+1627insGTTTTTTTTTTTTTTTTGTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	8/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35297553	T T	TTTTTGTT others(14): Show TTTTTGTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0027 a0002c0004t0001g0027	1	219	0.0046	21	c.761 others(38): Show c.761+1627_761+1628insGTTTTTTTTTTTTTTTGTTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	8/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35297561	T T	TTTTTGTT others(14): Show TTTTTGTTTTTTTGTTTTTTTG	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0053 a0002c0003t0001g0053	1	166	0.0060	21	c.761 others(38): Show c.761+1635_761+1636insGTTTTTTTGTTTTTTTGTTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	8/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35297561	T T	TTTTTTTT others(14): Show TTTTTTTTGTTTTGTTTTTTTG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0046 a0002c0003t0001g0046	1	166	0.0060	21	c.761 others(38): Show c.761+1637_761+1638insTGTTTTGTTTTTTTGTTTTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	8/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35297561	T T	TTTTTTTT others(14): Show TTTTTTTTTTTTTGTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp2 HG00741.hp2 others(30): Show HG00621.hp2 HG00673.hp2 HG00741.hp2 HG01168.hp2 HG01261.hp1 HG01346.hp2 HG02040.hp2 HG02083.hp1 HG02109.hp1 HG02155.hp1 HG02293.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG03130.hp2 HG03195.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03942.hp1 NA18612.hp1 NA18957.hp1 NA18965.hp2 NA18971.hp2 NA18990.hp2 NA18993.hp2 NA19002.hp2 NA19010.hp2 NA19074.hp2 NA19088.hp1	a0002 a0013 a0017 others(2): Show a0002 a0013 a0017 a0020 a0030	a0002c0003 a0002c0004 a0002c0010 others(6): Show a0002c0003 a0002c0004 a0002c0010 a0002c0011 a0002c0031 a0013c0017 a0017c0029 a0020c0034 a0030c0032	a0002c0003t0001 a0002c0004t0001 a0002c0010t0001 others(6): Show a0002c0003t0001 a0002c0004t0001 a0002c0010t0001 a0002c0011t0001 a0002c0031t0001 a0013c0017t0001 a0017c0029t0001 a0020c0034t0001 a0030c0032t0001	a0002c0003t0001g0024 a0002c0003t0001g0039 a0002c0003t0001g0040 others(30): Show a0002c0003t0001g0024 a0002c0003t0001g0039 a0002c0003t0001g0040 a0002c0003t0001g0041 a0002c0003t0001g0042 a0002c0003t0001g0044 a0002c0003t0001g0045 a0002c0003t0001g0047 a0002c0003t0001g0048 a0002c0003t0001g0052 a0002c0003t0001g0074 a0002c0003t0001g0192 a0002c0003t0001g0204 a0002c0003t0001g0205 a0002c0003t0001g0206 a0002c0003t0001g0208 a0002c0004t0001g0016 a0002c0004t0001g0028 a0002c0004t0001g0029 a0002c0004t0001g0031 a0002c0004t0001g0033 a0002c0010t0001g0017 a0002c0010t0001g0032 a0002c0010t0001g0036 a0002c0010t0001g0099 a0002c0011t0001g0177 a0002c0011t0001g0178 a0002c0011t0001g0179 a0002c0031t0001g0038 a0013c0017t0001g0037 a0017c0029t0001g0050 a0020c0034t0001g0067 a0030c0032t0001g0043	33	198	0.1667	21	c.761 others(38): Show c.761+1637_761+1638insTTTTTTGTTTTTTTGTTTTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	8/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35297561	T T	TTTTTTTT others(14): Show TTTTTTTTTTTTTTGTTTTTTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG03669.hp1 others(2): Show HG00099.hp1 HG00140.hp2 HG03669.hp1 HG03927.hp1 NA21309.hp1	a0003 a0033 a0003 a0033	a0003c0002 a0033c0033 a0003c0002 a0033c0033	a0003c0002t0001 a0033c0033t0001 a0003c0002t0001 a0033c0033t0001	a0003c0002t0001g0060 a0003c0002t0001g0119 a0003c0002t0001g0147 others(2): Show a0003c0002t0001g0060 a0003c0002t0001g0119 a0003c0002t0001g0147 a0003c0002t0001g0149 a0033c0033t0001g0108	5	170	0.0294	21	c.761 others(38): Show c.761+1637_761+1638insTTTTTTTGTTTTTTGTTTTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	8/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13C_chr15_53973441_54633605	54038124	A A	AAAAATTT others(14): Show AAAAATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0063 a0001c0002t0002g0063	1	19	0.0526	21	c.298 others(42): Show c.2983+22238_2983+22239insAAAATTTTTTTTTTTTTTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32			chr15	TogoVar
UNC13C_chr15_53973441_54633605	54138953	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0122 a0001c0001t0006g0122	1	6	0.1667	21	c.298 others(40): Show c.2984-4060_2984-4040dupTTTTTTTTTTTTTTTTTTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54175508	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0065 a0001c0003t0003g0065	1	61	0.0164	21	c.307 others(42): Show c.3071+31826_3071+31846dupTTTTTTTTTTTTTTTTTTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54250752	T T	TCTTTCTT others(14): Show TCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG03195.hp1 HG03471.hp1 HG01169.hp1 HG03195.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0007 a0001c0002 a0001c0004 a0001c0007	a0001c0002t0002 a0001c0004t0018 a0001c0007t0001 a0001c0002t0002 a0001c0004t0018 a0001c0007t0001	a0001c0002t0002g0082 a0001c0004t0018g0096 a0001c0007t0001g0029 a0001c0002t0002g0082 a0001c0004t0018g0096 a0001c0007t0001g0029	3	135	0.0222	21	c.344 others(38): Show c.3448+308_3448+309insCTTTCTTTCTTTCTTTCTTTC	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	8/32			chr15	TogoVar
UNC45B_chr17_35142817_35194343	35166086	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01361.hp2 HG02896.hp2 others(1): Show HG01243.hp1 HG01361.hp2 HG02896.hp2 HG03130.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0019 a0001c0001 a0009c0019	a0001c0001t0004 a0009c0019t0005 a0001c0001t0004 a0009c0019t0005	a0001c0001t0004g0040 a0001c0001t0004g0209 a0009c0019t0005g0259 a0001c0001t0004g0040 a0001c0001t0004g0209 a0009c0019t0005g0259	4	12	0.3333	21	c.115 others(40): Show c.1151+1925_1151+1945dupAAAAAAAAAAAAAAAAAAAAA	UNC45B	ENSG00000141161.12	transcript	ENST00000394570.7	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
UNC5A_chr5_176805559_176885898	176863807	C C	CCCTCCTC others(14): Show CCCTCCTCCTCCTCCCCCTCCT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0257	1	51	0.0196	21	c.292 others(36): Show c.292+970_292+971insTCCTCCCCCTCCTCCTCCTCC	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5B_chr10_71207570_71307864	71298536	G G	GGATAAAT others(14): Show GGATAAATATAAGGCCAATGAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02896.hp2 HG02897.hp1 HG00735.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0035 a0001c0010t0076 a0001c0010t0035 a0001c0010t0076	a0001c0010t0035g0008 a0001c0010t0035g0358 a0001c0010t0076g0008 a0001c0010t0035g0008 a0001c0010t0035g0358 a0001c0010t0076g0008	3	366	0.0082	21	c.267 others(38): Show c.2672+447_2672+467dupGATAAATATAAGGCCAATGAT	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5C_chr4_95157504_95553973	95258746	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01074.hp1 HG00735.hp2 HG01074.hp1	a0002 a0004 a0002 a0004	a0002c0017 a0004c0022 a0002c0017 a0004c0022	a0002c0017t0002 a0004c0022t0015 a0002c0017t0002 a0004c0022t0015	a0002c0017t0002g0034 a0004c0022t0015g0149 a0002c0017t0002g0034 a0004c0022t0015g0149	2	106	0.0189	21	c.595 others(38): Show c.595-8100_595-8080dupAAAAAAAAAAAAAAAAAAAAA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	4/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95354479	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0111 a0001c0003t0001g0111	1	146	0.0068	21	c.125 others(40): Show c.125-18849_125-18848insATATATATATATATATATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95354479	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02738.hp1 HG02280.hp1 HG02738.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0007 a0001c0003 a0002c0007	a0001c0003t0003 a0002c0007t0002 a0001c0003t0003 a0002c0007t0002	a0001c0003t0003g0191 a0002c0007t0002g0060 a0001c0003t0003g0191 a0002c0007t0002g0060	2	147	0.0136	21	c.125 others(40): Show c.125-18849_125-18848insAAATATATATATATATATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95354479	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG06807.hp1 HG03688.hp2 HG06807.hp1	a0001 a0001	a0001c0004 a0001c0010 a0001c0004 a0001c0010	a0001c0004t0001 a0001c0010t0014 a0001c0004t0001 a0001c0010t0014	a0001c0004t0001g0148 a0001c0010t0014g0186 a0001c0004t0001g0148 a0001c0010t0014g0186	2	147	0.0136	21	c.125 others(40): Show c.125-18849_125-18848insAAAAATATATATATATATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5D_chr8_35230475_35801540	35230512	C C	CACACACA others(14): Show CACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	21	0.0476	21	c.-52 others(32): Show c.-5273_-5272insACACACACACACACACACACA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding		4962		chr8	TogoVar
UNC5D_chr8_35230475_35801540	35728095	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0058 a0001c0003t0012g0058	1	30	0.0333	21	c.168 others(40): Show c.1681+1566_1681+1567insTATATATATATATATATATAT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	10/16			chr8	TogoVar
UNC5D_chr8_35230475_35801540	35749989	T T	TTTGTAAA others(14): Show TTTGTAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 NA18522.hp2 HG02896.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0009 a0001c0008t0007 a0001c0002t0009 a0001c0008t0007	a0001c0002t0009g0063 a0001c0008t0007g0037 a0001c0002t0009g0063 a0001c0008t0007g0037	2	25	0.0800	21	c.193 others(38): Show c.1936-593_1936-592insTTGTAAAAAAAAAAAAAAAAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	12/16			chr8	TogoVar
UNC79_chr14_93425939_93712876	93695890	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(14): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00438.hp1 HG00642.hp1 HG00741.hp1 HG01168.hp1 HG01192.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG06807.hp1 NA18944.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0002c0003 others(6): Show a0001c0001 a0001c0005 a0002c0003 a0002c0007 a0003c0004 a0003c0014 a0003c0022 a0003c0036 a0004c0012	a0001c0001t0001 a0001c0005t0001 a0002c0003t0001 others(6): Show a0001c0001t0001 a0001c0005t0001 a0002c0003t0001 a0002c0007t0001 a0003c0004t0001 a0003c0014t0001 a0003c0022t0001 a0003c0036t0001 a0004c0012t0001	a0001c0001t0001g0060 a0001c0001t0001g0133 a0001c0005t0001g0025 others(14): Show a0001c0001t0001g0060 a0001c0001t0001g0133 a0001c0005t0001g0025 a0001c0005t0001g0144 a0002c0003t0001g0099 a0002c0003t0001g0117 a0002c0003t0001g0134 a0002c0007t0001g0071 a0003c0004t0001g0096 a0003c0004t0001g0101 a0003c0004t0001g0102 a0003c0004t0001g0109 a0003c0004t0001g0127 a0003c0014t0001g0070 a0003c0022t0001g0130 a0003c0036t0001g0123 a0004c0012t0001g0147	17	77	0.2208	21	c.788 others(40): Show c.7881+1498_7881+1499insAAAAAAAAAAAAAAAAAAAAA	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	50/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC93B1_chr11_67986100_68009097	67987276	T T	TAAAATAA others(14): Show TAAAATAAAATAAAATAAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0063 a0003c0011t0001g0063	1	195	0.0051	21	c.42 others(32): Show c.4269_*4270insTATTTTATTTTATTTTATTTT	UNC93B1	ENSG00000110057.9	transcript	ENST00000227471.7	protein_coding		3823		chr11	TogoVar
UNK_chr17_75779806_75830799	75782239	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 NA18522.hp1 NA18522.hp2 others(1): Show HG02886.hp1 NA18522.hp1 NA18522.hp2 NA18966.hp2	a0001 a0005 a0001 a0005	a0001c0003 a0001c0006 a0005c0014 a0001c0003 a0001c0006 a0005c0014	a0001c0003t0002 a0001c0006t0005 a0005c0014t0004 a0001c0003t0002 a0001c0006t0005 a0005c0014t0004	a0001c0003t0002g0265 a0001c0006t0005g0082 a0001c0006t0005g0113 others(1): Show a0001c0003t0002g0265 a0001c0006t0005g0082 a0001c0006t0005g0113 a0005c0014t0004g0263	4	107	0.0374	21	c.-26 others(32): Show c.-2642_-2641insTTTTTTTTTTTTTTTTTTTTT	UNK	ENSG00000132478.10	transcript	ENST00000589666.6	protein_coding		2566		chr17	TogoVar
UPF2_chr10_11915022_12047809	11938853	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0309 a0001c0002t0001g0309	1	63	0.0159	21	c.337 others(40): Show c.3379-2162_3379-2142dupAAAAAAAAAAAAAAAAAAAAA	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	18/21			chr10	TogoVar
UPF3B_chrX_119829022_119857963	119851748	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp1 HG03516.hp2 HG01891.hp2 HG02258.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0041 a0001c0001t0002g0019 a0001c0001t0002g0041	3	5	0.6000	21	c.263 others(34): Show c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAA	UPF3B	ENSG00000125351.14	transcript	ENST00000276201.7	protein_coding	2/10			chrX	TogoVar
UPK1A_chr19_35661517_35683481	35676198	T T	TCTTTCTT others(14): Show TCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02818.hp2 NA18950.hp2 HG02273.hp1 HG02818.hp2 NA18950.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0003c0004t0002 a0001c0001t0002 a0003c0004t0002	a0001c0001t0002g0130 a0003c0004t0002g0050 a0001c0001t0002g0130 a0003c0004t0002g0050	3	384	0.0078	21	c.648 others(36): Show c.648+179_648+180insCTTTCTTTCTTTCTTTCTTTC	UPK1A	ENSG00000105668.8	transcript	ENST00000222275.3	protein_coding	6/7			chr19	TogoVar
UPK3BL1_chr7_102632025_102647791	102643232	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18986.hp2 NA18970.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0010 a0001c0001t0001g0017	2	68	0.0294	21	c.-49 others(30): Show c.-492_-491insTTTTTTTTTTTTTTTTTTTTT	UPK3BL1	ENSG00000267368.1	transcript	ENST00000340457.8	protein_coding		442		chr7	TogoVar

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