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
UGT3A2_chr5_36030021_36071882	36068934	G G	GGGAAGGA others(25): Show GGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0212 a0001c0001t0014g0212	1	400	0.0025	32	c.-21 others(43): Show c.-2146_-2145insGTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding		2053		chr5	TogoVar
UGT3A2_chr5_36030021_36071882	36068938	G G	GGGAGGGA others(25): Show GGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG06807.hp1 HG03130.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0215 a0001c0001t0004g0216	2	114	0.0175	32	c.-21 others(43): Show c.-2150_-2149insTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCC	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding		2057		chr5	TogoVar
UGT3A2_chr5_36030021_36071882	36068950	A A	AGGAAGGA others(25): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG03453.hp1 NA19004.hp2 others(2): Show HG02615.hp2 HG03453.hp1 NA19004.hp2 NA19030.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0002g0043 a0001c0001t0002g0124 a0001c0001t0001g0007 a0001c0001t0002g0043 a0001c0001t0002g0124	5	329	0.0152	32	c.-21 others(43): Show c.-2162_-2161insGTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding		2069		chr5	TogoVar
ULK1_chr12_131889622_131928150	131917102	G G	GTCGGAGG others(25): Show GTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0055 a0001c0007t0001g0055	1	269	0.0037	32	c.218 others(47): Show c.2182+55_2182+56insCGGGGGTCGGGTGGGGCTCGGAGGCTGTGG GA	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917125	C C	CGGAGGCT others(25): Show CGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0048 a0001c0002t0001g0048	1	291	0.0034	32	c.218 others(47): Show c.2182+86_2182+87insGTGGGGCTTGGAGGCTGTGGGATGGGGGTC GG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917232	C C	CGGGGGTC others(25): Show CGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGAT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0297 a0001c0001t0026g0297	1	198	0.0051	32	c.218 others(49): Show c.2183-148_2183-147insTGGGGGTCGGGTTCGGCTCGGAGGCTGT GGGA	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917246	G G	GGCTTGGA others(25): Show GGCTTGGAGGCTGTGGGACGGGGGTCGGGGGGA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0316 a0001c0002t0002g0316	1	338	0.0030	32	c.218 others(49): Show c.2183-162_2183-161insTGGAGGCTGTGGGACGGGGGTCGGGGGG AGCT	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917309	G G	GGGCTTGG others(25): Show GGGCTTGGAGGCTGTGGGATGGGGGTCGGGTTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0085	1	92	0.0109	32	c.218 others(49): Show c.2183-102_2183-101insGGCTTGGAGGCTGTGGGATGGGGGTCGG GTTC	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27			chr12	TogoVar
ULK4_chr3_41241599_41967103	41901479	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0019 a0019	a0019c0017 a0019c0017	a0019c0017t0001 a0019c0017t0001	a0019c0017t0001g0022 a0019c0017t0001g0022	1	16	0.0625	32	c.118 others(49): Show c.1183-651_1183-650insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	12/36			chr3	TogoVar
UMAD1_chr7_7635752_7884223	7777574	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02970.hp2 HG02559.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0026 a0001c0001t0024 a0001c0001t0026	a0001c0001t0024g0236 a0001c0001t0026g0230 a0001c0001t0024g0236 a0001c0001t0026g0230	2	71	0.0282	32	c.83- others(49): Show c.83-24068_83-24067insATATATATATATATATATATATATATAT ATAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMOD_chr16_20328051_20357715	20345400	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG03453.hp2 NA18999.hp1 others(2): Show HG02273.hp2 HG03453.hp2 NA18999.hp1 NA19003.hp2 NA20805.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0012 a0001c0003 a0001c0004 a0001c0012	a0001c0003t0002 a0001c0004t0006 a0001c0012t0001 a0001c0003t0002 a0001c0004t0006 a0001c0012t0001	a0001c0003t0002g0002 a0001c0004t0006g0146 a0001c0012t0001g0241 a0001c0003t0002g0002 a0001c0004t0006g0146 a0001c0012t0001g0241	5	337	0.0148	32	c.118 others(49): Show c.1182+725_1182+726insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA	UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding	5/10			chr16	TogoVar
UMOD_chr16_20328051_20357715	20345502	C C	CCCTCCCT others(25): Show CCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0150 a0001c0004t0001g0150	1	316	0.0032	32	c.118 others(49): Show c.1182+623_1182+624insAAGGAAGGAAGGAAGGAAGGGAGGGAGG GAGG	UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding	5/10			chr16	TogoVar
UMOD_chr16_20328051_20357715	20345504	C C	CTCCCTCC others(25): Show CTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0145 a0001c0004t0001g0145	1	402	0.0025	32	c.118 others(49): Show c.1182+621_1182+622insAGAAGGAAGGAAGGAAGGAAGGAAGGGA GGGA	UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding	5/10			chr16	TogoVar
UMPS_chr3_124725452_124754273	124750103	G G	GCCGGGCG others(25): Show GCCGGGCGGGGGGCTGACCCCCCCACCTCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0034 a0002c0002t0002g0034	1	345	0.0029	32	c.60 others(43): Show c.6019_*6020insCCGGGCGGGGGGCTGACCCCCCCACCTCCCGC	UMPS	ENSG00000114491.14	transcript	ENST00000232607.7	protein_coding		831		chr3	TogoVar
UMPS_chr3_124725452_124754273	124750103	G G	GCCGGGCG others(25): Show GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(84): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG01070.hp1 HG01081.hp2 HG01109.hp1 HG01168.hp1 HG01243.hp1 HG01255.hp2 HG01433.hp1 HG01433.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp1 HG02056.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02896.hp1 HG03041.hp1 HG03209.hp1 HG03927.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18966.hp1 NA18968.hp1 NA18971.hp2 NA18973.hp1 NA18978.hp2 NA18981.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp2 NA19012.hp1 NA19055.hp2 NA19057.hp1 NA19062.hp2 NA19063.hp1 NA19070.hp1 NA19072.hp1 NA19076.hp2 NA19077.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA20300.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0006 others(1): Show a0002c0002 a0002c0005 a0002c0006 a0002c0007	a0002c0002t0002 a0002c0002t0009 a0002c0002t0010 others(17): Show a0002c0002t0002 a0002c0002t0009 a0002c0002t0010 a0002c0002t0025 a0002c0002t0030 a0002c0002t0031 a0002c0002t0043 a0002c0002t0088 a0002c0002t0089 a0002c0002t0090 a0002c0002t0092 a0002c0002t0096 a0002c0005t0010 a0002c0005t0030 a0002c0005t0087 a0002c0005t0091 a0002c0006t0093 a0002c0006t0094 a0002c0006t0095 a0002c0007t0002	a0002c0002t0002g0003 a0002c0002t0002g0013 a0002c0002t0002g0014 others(41): Show a0002c0002t0002g0003 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0027 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0089 a0002c0002t0002g0096 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0102 a0002c0002t0002g0104 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0110 a0002c0002t0009g0003 a0002c0002t0009g0014 a0002c0002t0009g0097 a0002c0002t0009g0103 a0002c0002t0010g0003 a0002c0002t0010g0020 a0002c0002t0010g0088 a0002c0002t0010g0090 a0002c0002t0025g0013 a0002c0002t0025g0039 a0002c0002t0025g0095 a0002c0002t0030g0003 a0002c0002t0031g0013 a0002c0002t0043g0013 a0002c0002t0043g0094 a0002c0002t0088g0105 a0002c0002t0089g0003 a0002c0002t0090g0013 a0002c0002t0092g0034 a0002c0002t0096g0101 a0002c0005t0010g0044 a0002c0005t0030g0043 a0002c0005t0087g0041 a0002c0005t0091g0042 a0002c0006t0093g0109 a0002c0006t0094g0087 a0002c0006t0095g0108 a0002c0007t0002g0003 a0002c0007t0002g0098	87	431	0.2019	32	c.60 others(43): Show c.6019_*6020insCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC	UMPS	ENSG00000114491.14	transcript	ENST00000232607.7	protein_coding		831		chr3	TogoVar
UNC119B_chr12_120705458_120728640	120727143	C C	CATGACAG others(25): Show CATGACAGCCAGGGATTTGCGAGAGGAGTGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	396	0.0025	32	c.71 others(43): Show c.7111_*7112insATGACAGCCAGGGATTTGCGAGAGGAGTGTTT	UNC119B	ENSG00000175970.11	transcript	ENST00000344651.5	protein_coding		3504		chr12	TogoVar
UNC13B_chr9_35157009_35410335	35232177	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01261.hp2 HG01346.hp1 others(1): Show HG00741.hp1 HG01261.hp2 HG01346.hp1 NA19043.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0001c0001t0003 a0006c0008t0002 a0001c0001t0001 a0001c0001t0003 a0006c0008t0002	a0001c0001t0001g0063 a0001c0001t0003g0013 a0001c0001t0003g0161 others(1): Show a0001c0001t0001g0063 a0001c0001t0003g0013 a0001c0001t0003g0161 a0006c0008t0002g0010	4	31	0.1290	32	c.152 others(47): Show c.152+979_152+980insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13C_chr15_53973441_54633605	54186836	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA19090.hp2 HG02602.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0047 a0001c0005t0003 a0001c0001t0047 a0001c0005t0003	a0001c0001t0047g0131 a0001c0005t0003g0097 a0001c0001t0047g0131 a0001c0005t0003g0097	2	128	0.0156	32	c.307 others(53): Show c.3071+43160_3071+43161insATATATATATATATATATATATAT ATATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54186837	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0005 a0005	a0005c0027 a0005c0027	a0005c0027t0008 a0005c0027t0008	a0005c0027t0008g0073 a0005c0027t0008g0073	1	156	0.0064	32	c.307 others(53): Show c.3071+43160_3071+43161insATATATATATATATATATATATAT TTATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54230102	A A	AACATATT others(25): Show AACATATTGATTTCATTTTATGTGAATATACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00423.hp1 others(64): Show HG00099.hp1 HG00099.hp2 HG00423.hp1 HG00735.hp2 HG00738.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01361.hp1 HG01515.hp2 HG01891.hp2 HG01943.hp2 HG01993.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02258.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03927.hp2 HG04199.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18979.hp1 NA18979.hp2 NA18991.hp2 NA19081.hp1 NA19090.hp1 NA20300.hp2 NA20752.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0014	a0001c0001 a0001c0002 a0001c0003 others(24): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0012 a0001c0014 a0001c0020 a0001c0021 a0001c0029 a0001c0041 a0002c0018 a0002c0019 a0003c0037 a0003c0038 a0004c0009 a0004c0026 a0005c0011 a0006c0013 a0007c0010 a0009c0028 a0010c0039 a0011c0024 a0012c0025 a0014c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(52): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0025 a0001c0001t0036 a0001c0001t0045 a0001c0001t0047 a0001c0001t0059 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0013 a0001c0002t0020 a0001c0002t0022 a0001c0002t0024 a0001c0002t0034 a0001c0002t0051 a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 a0001c0003t0021 a0001c0004t0018 a0001c0004t0052 a0001c0005t0003 a0001c0006t0027 a0001c0006t0049 a0001c0007t0001 a0001c0012t0017 a0001c0014t0002 a0001c0020t0008 a0001c0021t0013 a0001c0029t0046 a0001c0041t0025 a0002c0018t0004 a0002c0019t0031 a0003c0037t0008 a0003c0038t0011 a0004c0009t0005 a0004c0026t0001 a0005c0011t0003 a0006c0013t0014 a0006c0013t0044 a0007c0010t0002 a0009c0028t0019 a0010c0039t0001 a0011c0024t0028 a0012c0025t0018 a0014c0030t0014	a0001c0001t0001g0013 a0001c0001t0001g0044 a0001c0001t0002g0141 others(64): Show a0001c0001t0001g0013 a0001c0001t0001g0044 a0001c0001t0002g0141 a0001c0001t0006g0122 a0001c0001t0011g0077 a0001c0001t0011g0150 a0001c0001t0014g0083 a0001c0001t0016g0115 a0001c0001t0018g0033 a0001c0001t0019g0042 a0001c0001t0025g0003 a0001c0001t0036g0089 a0001c0001t0045g0130 a0001c0001t0047g0131 a0001c0001t0059g0147 a0001c0002t0001g0018 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0002g0082 a0001c0002t0006g0112 a0001c0002t0008g0075 a0001c0002t0009g0133 a0001c0002t0009g0134 a0001c0002t0013g0014 a0001c0002t0020g0024 a0001c0002t0022g0086 a0001c0002t0022g0092 a0001c0002t0024g0138 a0001c0002t0034g0079 a0001c0002t0051g0157 a0001c0003t0001g0019 a0001c0003t0004g0011 a0001c0003t0005g0125 a0001c0003t0005g0128 a0001c0003t0021g0155 a0001c0004t0018g0096 a0001c0004t0052g0036 a0001c0005t0003g0066 a0001c0005t0003g0068 a0001c0006t0027g0050 a0001c0006t0027g0052 a0001c0006t0049g0108 a0001c0007t0001g0029 a0001c0012t0017g0109 a0001c0012t0017g0117 a0001c0014t0002g0076 a0001c0020t0008g0085 a0001c0021t0013g0038 a0001c0021t0013g0039 a0001c0029t0046g0143 a0001c0041t0025g0156 a0002c0018t0004g0046 a0002c0019t0031g0071 a0003c0037t0008g0094 a0003c0038t0011g0002 a0004c0009t0005g0132 a0004c0026t0001g0022 a0005c0011t0003g0072 a0005c0011t0003g0078 a0006c0013t0014g0151 a0006c0013t0044g0062 a0007c0010t0002g0139 a0009c0028t0019g0008 a0010c0039t0001g0037 a0011c0024t0028g0017 a0012c0025t0018g0030 a0014c0030t0014g0084	67	156	0.4295	32	c.307 others(51): Show c.3072-4928_3072-4927insACATATTGATTTCATTTTATGTGAAT ATACAC	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	4/32			chr15	TogoVar
UNC13C_chr15_53973441_54633605	54250733	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0063 a0001c0002t0002g0063	1	116	0.0086	32	c.344 others(49): Show c.3448+308_3448+309insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455205	C C	CTCTCTAT others(25): Show CTCTCTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0013 a0001c0021t0013	a0001c0021t0013g0039 a0001c0021t0013g0039	1	54	0.0185	32	c.493 others(53): Show c.4934-39402_4934-39401insCTCTATATATATATATATATATAT ATATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455205	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0004 a0002c0016t0004	a0002c0016t0004g0055 a0002c0016t0004g0055	1	54	0.0185	32	c.493 others(53): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTCTCTCTCTAT ATATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC45B_chr17_35142817_35194343	35175060	G G	GAAGAAAG others(25): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01433.hp1 HG02056.hp1 others(4): Show HG00642.hp2 HG01433.hp1 HG02056.hp1 HG02258.hp1 NA18906.hp2 NA18967.hp2 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0002c0003t0006 a0001c0001t0002 a0002c0003t0002 a0002c0003t0006	a0001c0001t0002g0077 a0001c0001t0002g0137 a0002c0003t0002g0096 others(4): Show a0001c0001t0002g0077 a0001c0001t0002g0137 a0002c0003t0002g0096 a0002c0003t0002g0098 a0002c0003t0006g0103 a0002c0003t0006g0104 a0002c0003t0006g0105	7	250	0.0280	32	c.195 others(49): Show c.1958+719_1958+720insAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGA	UNC45B	ENSG00000141161.12	transcript	ENST00000394570.7	protein_coding	14/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
UNC45B_chr17_35142817_35194343	35175075	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18971.hp1 NA18973.hp2 others(1): Show NA18612.hp2 NA18971.hp1 NA18973.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0024 a0001c0001t0001g0057 a0001c0001t0001g0058	4	425	0.0094	32	c.195 others(49): Show c.1958+719_1958+720insAAGAAAGAAAGAAAGAAACAAAGAAAGA AAGA	UNC45B	ENSG00000141161.12	transcript	ENST00000394570.7	protein_coding	14/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
UNC50_chr2_98603589_98623515	98618795	G G	GTTCTGTA others(25): Show GTTCTGTACCTTAGGTGAAATTTAGCAGTCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	412	0.0024	32	c.49 others(41): Show c.491_*492insTTCTGTACCTTAGGTGAAATTTAGCAGTCAAC	UNC50	ENSG00000115446.12	transcript	ENST00000357765.7	protein_coding		281		chr2	TogoVar
UNC5A_chr5_176805559_176885898	176858774	G G	GGAAGGAA others(25): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA20905.hp2 HG02818.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0175 a0001c0001t0002g0097 a0001c0001t0001g0175 a0001c0001t0002g0097	2	75	0.0267	32	c.71- others(47): Show c.71-3849_71-3848insAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA AG	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176871941	C C	CCAACACC others(25): Show CCAACACCACAGCTTCACATCTGCCCACACTCA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	62	0.0161	32	c.886 others(49): Show c.886+1408_886+1409insAACACCACAGCTTCACATCTGCCCACAC TCAC	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176872585	C C	CCAACACC others(25): Show CCAACACCACAGCTTCACATCTGCCCACACTCA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0232 a0001c0004t0002g0232	1	266	0.0038	32	c.887 others(49): Show c.887-1382_887-1381insAACACCACAGCTTCACATCTGCCCACAC TCAC	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5B_chr10_71207570_71307864	71227655	T T	TACATATA others(25): Show TACATATATATACACATATATACATATATATAC	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0252 a0001c0002t0002g0252	1	366	0.0027	32	c.79+ others(49): Show c.79+14607_79+14638dupTATATACATATATATACACATATATATA CACA	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5C_chr4_95157504_95553973	95256699	A A	AATATATA others(25): Show AATATATATATATATATAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0019 a0001c0005t0019	a0001c0005t0019g0010 a0001c0005t0019g0010	1	143	0.0070	32	c.595 others(49): Show c.595-6033_595-6032insATATATATATATATTTATATATATATAT ATAT	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	4/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95256699	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0097 a0001c0003t0001g0097	1	143	0.0070	32	c.595 others(49): Show c.595-6033_595-6032insATATATATATATATATATATATATATAT ATAT	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	4/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95354468	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0006 a0001c0010t0006	a0001c0010t0006g0074 a0001c0010t0006g0074	1	165	0.0061	32	c.125 others(51): Show c.125-18838_125-18837insATATATATATATATATATATATATAT ATATAT	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5D_chr8_35230475_35801540	35271396	C C	CGTGTGTA others(25): Show CGTGTGTATGTATATGTATACACACACATATGT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	64	0.0156	32	c.103 others(51): Show c.103+35535_103+35566dupCATATGTGTGTGTATGTATATGTATA CACACA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35587965	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02622.hp2 HG00597.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0004 a0001c0001t0001 a0001c0006t0004	a0001c0001t0001g0028 a0001c0006t0004g0031 a0001c0001t0001g0028 a0001c0006t0004g0031	2	8	0.2500	32	c.467 others(49): Show c.467-7560_467-7559insTATATATATATATATATATATATATATA TATA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UPF1_chr19_18826959_18873230	18829607	A A	ATATATAT others(25): Show ATATATATATGTATATATATATACATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	389	0.0026	32	c.-26 others(43): Show c.-2603_-2602insTATATATATGTATATATATATACATATATATG	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding		2351		chr19	TogoVar
UPF1_chr19_18826959_18873230	18829611	A A	ATATATGT others(25): Show ATATATGTATATATATATACATATATATATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	384	0.0026	32	c.-25 others(43): Show c.-2599_-2598insTATATGTATATATATATACATATATATATGTG	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding		2347		chr19	TogoVar
UPF3A_chr13_114276601_114310817	114295302	G G	GCTGGCGT others(25): Show GCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCT	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18943.hp1 NA18975.hp2 others(3): Show HG02155.hp2 NA18943.hp1 NA18975.hp2 NA19065.hp2 NA19076.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0059 a0001c0001t0001g0101 others(2): Show a0001c0001t0001g0023 a0001c0001t0001g0059 a0001c0001t0001g0101 a0001c0001t0001g0162 a0001c0001t0001g0173	6	406	0.0148	32	c.846 others(49): Show c.846+3515_846+3516insGTGCTCCCCAGCTCGTCTCCAGCGGCTC TGGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295308	C C	CTGCTCCC others(25): Show CTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02647.hp1 HG03516.hp1 HG02451.hp1 HG02647.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236	3	348	0.0086	32	c.847 others(49): Show c.847-3510_847-3509insGGCTCTGGCGTGCTCCCCAGCTCGTCTC CAGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295331	A A	AGCTCTGG others(25): Show AGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp1 HG02897.hp1 others(1): Show HG02895.hp1 HG02896.hp1 HG02897.hp1 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0012 a0002c0002t0001g0233 a0002c0002t0001g0012 a0002c0002t0001g0233	4	307	0.0130	32	c.847 others(49): Show c.847-3500_847-3469dupCTGCTCCCCAGCTCGTCTCCAGCGGCTC TGGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295331	A A	AGCTCTGG others(25): Show AGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0016 a0016	a0016c0014 a0016c0014	a0016c0014t0001 a0016c0014t0001	a0016c0014t0001g0374 a0016c0014t0001g0374	1	304	0.0033	32	c.847 others(49): Show c.847-3501_847-3500insGTGCTCCCCAGCTCGTCTCCAGCGGCTC TGGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295340	C C	CTGCTCCC others(25): Show CTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0006 a0005c0006t0006	a0005c0006t0006g0218 a0005c0006t0006g0218	1	349	0.0029	32	c.847 others(49): Show c.847-3478_847-3477insAGCTCTGGCGTGCTCCCCAGCTCGTCTC CAGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295340	C C	CTGCTCCC others(25): Show CTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01243.hp1 HG01257.hp1 others(9): Show HG00733.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG02486.hp2 HG02922.hp1 HG03098.hp2 HG03471.hp2 HG03579.hp1 NA18946.hp2 NA18953.hp2 NA19084.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0008 a0001c0001 a0002c0002 a0006c0008	a0001c0001t0001 a0002c0002t0001 a0006c0008t0001 a0001c0001t0001 a0002c0002t0001 a0006c0008t0001	a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0157 others(8): Show a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0157 a0001c0001t0001g0158 a0002c0002t0001g0016 a0002c0002t0001g0046 a0002c0002t0001g0214 a0002c0002t0001g0225 a0002c0002t0001g0352 a0002c0002t0001g0354 a0006c0008t0001g0134	12	360	0.0333	32	c.847 others(49): Show c.847-3436_847-3405dupGTGCTCCCCAGCTCGTCTCCAGCGGCTC TGGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295363	G G	GGCTCTGG others(25): Show GGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0073 a0002c0002t0001g0073	1	439	0.0023	32	c.847 others(49): Show c.847-3469_847-3468insCTGCTCCCCAGCTCGTCTCCAGCAGCTC TGGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295372	G G	GTGCTCCC others(25): Show GTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0121 a0003c0003t0001g0121	1	287	0.0035	32	c.847 others(49): Show c.847-3446_847-3445insAGCTCTGGCCTGCTCCCCAGCTCGTCTC CAGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295372	G G	GTGCTCCC others(25): Show GTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01175.hp2 HG01891.hp1 others(12): Show HG00597.hp1 HG01175.hp2 HG01891.hp1 HG02074.hp2 HG02132.hp1 HG02148.hp2 HG02523.hp2 HG02735.hp2 HG02965.hp2 HG02976.hp1 HG03688.hp1 HG03704.hp1 NA18943.hp1 NA18977.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0001c0001t0001 a0001c0001t0005 a0002c0002t0001	a0001c0001t0001g0037 a0001c0001t0001g0086 a0001c0001t0001g0104 others(12): Show a0001c0001t0001g0037 a0001c0001t0001g0086 a0001c0001t0001g0104 a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0275 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0292 a0001c0001t0001g0300 a0001c0001t0005g0317 a0001c0001t0005g0318 a0002c0002t0001g0353 a0002c0002t0001g0367	15	301	0.0498	32	c.847 others(49): Show c.847-3437_847-3436insCTGCTCCCCAGCTCGTCTCCAGCGGCTC TGGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295404	G G	GTGCTCCC others(25): Show GTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02132.hp2 HG02615.hp1 others(8): Show HG02071.hp2 HG02132.hp2 HG02615.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03491.hp2 HG04184.hp2 NA18985.hp2 NA19007.hp1 NA19056.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0048 a0001c0001t0001g0258 a0001c0001t0001g0284 others(6): Show a0001c0001t0001g0048 a0001c0001t0001g0258 a0001c0001t0001g0284 a0001c0001t0001g0290 a0002c0002t0001g0011 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0364 a0002c0002t0001g0370	11	283	0.0389	32	c.847 others(49): Show c.847-3431_847-3400dupCCCCAGCTCGTCTCCAGCGGCTCTGGCC TGCT	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPK1A_chr19_35661517_35683481	35682244	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG03490.hp2 NA19004.hp2 others(2): Show HG01256.hp1 HG03490.hp2 NA19004.hp2 NA19066.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0054 a0001c0001t0002g0209 others(1): Show a0001c0001t0002g0002 a0001c0001t0002g0054 a0001c0001t0002g0209 a0001c0001t0002g0211	5	165	0.0303	32	c.42 others(43): Show c.4225_*4226insATATATATATATATATATATATATATATATAT	UPK1A	ENSG00000105668.8	transcript	ENST00000222275.3	protein_coding		3764		chr19	TogoVar
UPK1A_chr19_35661517_35683481	35682268	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG02818.hp2 HG01993.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0217 a0001c0001t0002g0130 a0001c0001t0002g0217	2	414	0.0048	32	c.42 others(43): Show c.4249_*4250insATATATATATATATATATATATATATATATAA	UPK1A	ENSG00000105668.8	transcript	ENST00000222275.3	protein_coding		3788		chr19	TogoVar
UPK3BL1_chr7_102632025_102647791	102646920	A A	AGAGAAAG others(25): Show AGAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0022 a0001c0001t0006g0022	1	111	0.0090	32	c.-41 others(43): Show c.-4180_-4179insCTTTCTTTCTTTCTTTCTTTCTTTCCTTTCTC	UPK3BL1	ENSG00000267368.1	transcript	ENST00000340457.8	protein_coding		4130		chr7	TogoVar

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