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
UMAD1_chr7_7635752_7884223	7679071	C C	CATATATT others(20): Show CATATATTTATATATTTAGTTTATAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0063 a0001c0002t0063	a0001c0002t0063g0155 a0001c0002t0063g0155	1	88	0.0114	27	c.82+ others(42): Show c.82+5644_82+5645insAATATATTTATATATTTAGTTTATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679134	A A	ATTTATAT others(20): Show ATTTATATATTTAGTTTATAGATACATG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01496.hp2 HG02965.hp1 HG00140.hp2 HG01496.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 a0001c0001t0001 a0001c0001t0007 a0001c0001t0014	a0001c0001t0001g0061 a0001c0001t0007g0222 a0001c0001t0014g0009 a0001c0001t0001g0061 a0001c0001t0007g0222 a0001c0001t0014g0009	3	247	0.0121	27	c.82+ others(42): Show c.82+5704_82+5705insCATGTTTATATATTTAGTTTATAGATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679165	A A	ATTTATAT others(20): Show ATTTATATATTTAGTTTATAGATACATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG01123.hp2 others(21): Show HG00280.hp1 HG00597.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01891.hp2 HG01928.hp2 HG01981.hp1 HG01981.hp2 HG02135.hp2 HG02615.hp1 HG02818.hp2 HG02922.hp2 HG04115.hp2 HG04204.hp1 NA18960.hp2 NA18986.hp2 NA18988.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0019 a0001c0001t0026 a0001c0001t0029 a0001c0001t0065 a0001c0001t0067 a0001c0004t0041	a0001c0001t0001g0053 a0001c0001t0001g0117 a0001c0001t0001g0118 others(21): Show a0001c0001t0001g0053 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0002g0029 a0001c0001t0002g0033 a0001c0001t0002g0085 a0001c0001t0002g0167 a0001c0001t0005g0008 a0001c0001t0008g0054 a0001c0001t0009g0193 a0001c0001t0009g0194 a0001c0001t0011g0044 a0001c0001t0011g0045 a0001c0001t0013g0084 a0001c0001t0013g0124 a0001c0001t0019g0078 a0001c0001t0019g0081 a0001c0001t0019g0192 a0001c0001t0026g0056 a0001c0001t0026g0191 a0001c0001t0029g0226 a0001c0001t0065g0214 a0001c0001t0067g0227 a0001c0004t0041g0210	24	248	0.0968	27	c.82+ others(42): Show c.82+5735_82+5736insCATGTTTATATATTTAGTTTATAGATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679196	A A	ATTTATAT others(20): Show ATTTATATATTTAGTTTATAGATACATG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03225.hp1 HG01109.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0068 a0001c0001t0064 a0001c0001t0068	a0001c0001t0064g0190 a0001c0001t0068g0139 a0001c0001t0064g0190 a0001c0001t0068g0139	2	248	0.0081	27	c.82+ others(42): Show c.82+5766_82+5767insCATGTTTATATATTTAGTTTATAGATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679227	A A	ATTTATAT others(20): Show ATTTATATATTTAGTTTATAGATACATG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00741.hp1 HG02145.hp1 others(8): Show HG00733.hp2 HG00741.hp1 HG02145.hp1 HG02630.hp1 HG02647.hp1 HG02809.hp1 HG02818.hp1 HG03516.hp2 HG03669.hp1 NA19063.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0021 a0001c0001t0029 a0001c0001t0071 a0001c0001t0075	a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0001t0005g0036 others(8): Show a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0001t0005g0036 a0001c0001t0011g0023 a0001c0001t0013g0127 a0001c0001t0014g0017 a0001c0001t0014g0110 a0001c0001t0021g0042 a0001c0001t0029g0217 a0001c0001t0071g0004 a0001c0001t0075g0016	11	247	0.0445	27	c.82+ others(42): Show c.82+5797_82+5798insCATGTTTATATATTTAGTTTATAGATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679258	A A	ATTTATAT others(20): Show ATTTATATATTTAGTTTATAGATACATG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02970.hp1 HG02451.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0042 a0001c0001t0001 a0001c0001t0042	a0001c0001t0001g0114 a0001c0001t0042g0152 a0001c0001t0001g0114 a0001c0001t0042g0152	2	248	0.0081	27	c.82+ others(42): Show c.82+5828_82+5829insCATGTTTATATATTTAGTTTATAGATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679289	A A	ATTTATAT others(20): Show ATTTATATATTTAGTTTATAGATACATG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01069.hp1 HG01167.hp1 others(14): Show HG00733.hp1 HG01069.hp1 HG01167.hp1 HG01192.hp2 HG01261.hp1 HG01884.hp1 HG01928.hp1 HG02056.hp1 HG02109.hp2 HG02615.hp2 HG02622.hp1 HG03654.hp1 NA18747.hp1 NA19000.hp1 NA19005.hp2 NA19085.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(13): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0024 a0001c0001t0038 a0001c0001t0046 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0072 a0001c0001t0083	a0001c0001t0003g0107 a0001c0001t0004g0129 a0001c0001t0004g0142 others(14): Show a0001c0001t0003g0107 a0001c0001t0004g0129 a0001c0001t0004g0142 a0001c0001t0006g0131 a0001c0001t0010g0138 a0001c0001t0015g0137 a0001c0001t0016g0125 a0001c0001t0017g0133 a0001c0001t0018g0106 a0001c0001t0024g0141 a0001c0001t0038g0089 a0001c0001t0046g0135 a0001c0001t0050g0136 a0001c0001t0051g0128 a0001c0001t0052g0134 a0001c0001t0072g0026 a0001c0001t0083g0130	17	248	0.0685	27	c.82+ others(42): Show c.82+5859_82+5860insCATGTTTATATATTTAGTTTATAGATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679302	G G	GTTTATAG others(20): Show GTTTATAGATACATGTTTATATATTTAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01255.hp1 NA18975.hp2 others(1): Show HG01123.hp1 HG01255.hp1 NA18975.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0018 a0001c0001t0038 a0001c0001t0003 a0001c0001t0018 a0001c0001t0038	a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0018g0198 others(1): Show a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0018g0198 a0001c0001t0038g0199	4	239	0.0167	27	c.82+ others(42): Show c.82+5859_82+5860insCATGTTTATATATTTAATTTATAGATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679567	A A	ATATTTAA others(20): Show ATATTTAATTTATAGATAAATATATATT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0149 a0001c0001t0078g0149	1	248	0.0040	27	c.82+ others(42): Show c.82+6117_82+6118insTTAATTTATAGATAAATATATATTTAT	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(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0190 a0001c0001t0064g0190	1	26	0.0385	27	c.83- others(42): Show c.83-5402_83-5401insTTTTTTTTTTTTTTTTTTTTTTTTTTT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMODL1_chr21_42066317_42147996	42095089	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03579.hp2 HG02622.hp2 HG03579.hp2	a0013 a0034 a0013 a0034	a0013c0110 a0034c0111 a0013c0110 a0034c0111	a0013c0110t0001 a0034c0111t0012 a0013c0110t0001 a0034c0111t0012	a0013c0110t0001g0270 a0034c0111t0012g0275 a0013c0110t0001g0270 a0034c0111t0012g0275	2	64	0.0313	27	c.932 others(44): Show c.932-3814_932-3813insTTTTTTTTTTTTTTTTTTTTTTTTTTT	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMOD_chr16_20328051_20357715	20345442	C C	CTTTCTTT others(20): Show CTTTCTTTCTTTCTTTCTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	294	0.0034	27	c.118 others(44): Show c.1182+683_1182+684insAGAAAGAAAGAGAAAGAAAGAAAGAAA	UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding	5/10			chr16	TogoVar
UNC13A_chr19_17596336_17693354	17631184	T T	TTCCTCCC others(20): Show TTCCTCCCTCCTTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0273 a0002c0005t0001g0273	1	230	0.0043	27	c.342 others(44): Show c.3429-435_3429-434insGGGAGGGAGGGAGGGAAGGAGGGAGGA	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	28/43			chr19	TogoVar
UNC13B_chr9_35157009_35410335	35232177	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0001 a0001c0013t0001g0001	1	28	0.0357	27	c.152 others(42): Show c.152+979_152+980insTTTTTTTTTTTTTTTTTTTTTTTTTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13C_chr15_53973441_54633605	54038124	A A	ATATATAT others(20): Show ATATATATAAATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	19	0.0526	27	c.298 others(48): Show c.2983+22239_2983+22240insATATATAAATTTTTTTTTTTTTTT TTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54132074	C C	CTTTTTTT others(20): Show CTTTTTTTTTCTTTTTCTTTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00735.hp1 others(26): Show HG00099.hp1 HG00423.hp2 HG00735.hp1 HG01243.hp1 HG01255.hp2 HG01943.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02109.hp1 HG02132.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02896.hp2 HG02897.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03540.hp1 HG03654.hp1 NA18522.hp1 NA18939.hp1 NA18952.hp2 NA18954.hp2 NA18964.hp1 NA18964.hp2 NA19030.hp1 NA19081.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0007 a0009	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0033 a0001c0040 a0002c0018 a0004c0009 a0005c0011 a0007c0010 a0009c0028	a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 others(21): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 a0001c0001t0018 a0001c0001t0019 a0001c0001t0025 a0001c0001t0037 a0001c0002t0001 a0001c0002t0005 a0001c0002t0020 a0001c0002t0023 a0001c0002t0034 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0053 a0001c0007t0012 a0001c0033t0033 a0001c0040t0026 a0002c0018t0004 a0004c0009t0026 a0005c0011t0003 a0007c0010t0002 a0009c0028t0019	a0001c0001t0002g0102 a0001c0001t0002g0141 a0001c0001t0007g0006 others(26): Show a0001c0001t0002g0102 a0001c0001t0002g0141 a0001c0001t0007g0006 a0001c0001t0007g0152 a0001c0001t0011g0077 a0001c0001t0018g0033 a0001c0001t0019g0025 a0001c0001t0025g0003 a0001c0001t0037g0158 a0001c0002t0001g0032 a0001c0002t0001g0034 a0001c0002t0005g0123 a0001c0002t0020g0020 a0001c0002t0020g0024 a0001c0002t0020g0041 a0001c0002t0023g0064 a0001c0002t0034g0079 a0001c0003t0001g0019 a0001c0003t0002g0088 a0001c0003t0005g0120 a0001c0003t0053g0058 a0001c0007t0012g0154 a0001c0033t0033g0093 a0001c0040t0026g0027 a0002c0018t0004g0046 a0004c0009t0026g0021 a0005c0011t0003g0078 a0007c0010t0002g0139 a0009c0028t0019g0008	29	68	0.4265	27	c.298 others(48): Show c.2984-10935_2984-10934insCTTTTTCTTTTTCTTTTTTTTTTT TTT	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(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	61	0.0164	27	c.307 others(48): Show c.3071+31846_3071+31847insTTTTTTTTTTTTTTTTTTTTTTTT TTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54250750	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03486.hp1 HG03098.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0051 a0001c0002t0022 a0001c0002t0051	a0001c0002t0022g0092 a0001c0002t0051g0157 a0001c0002t0022g0092 a0001c0002t0051g0157	2	146	0.0137	27	c.344 others(44): Show c.3448+308_3448+309insCTTTCTTTCTTTCTTTCTTTCTTTCTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54482614	A A	AATTCCAC others(20): Show AATTCCACTGTTCTCTCCCAGATGCTGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00639.hp1 others(66): Show HG00423.hp1 HG00423.hp2 HG00639.hp1 HG00735.hp1 HG01123.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01993.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02155.hp2 HG02258.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03579.hp2 HG03927.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18947.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18964.hp2 NA18979.hp1 NA18979.hp2 NA18989.hp1 NA18991.hp2 NA18993.hp2 NA19030.hp1 NA19081.hp1 NA20129.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0021 a0001c0034 a0001c0035 a0001c0040 a0001c0041 a0002c0016 a0002c0019 a0003c0037 a0003c0038 a0004c0009 a0004c0026 a0005c0011 a0010c0039 a0011c0024 a0012c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(52): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0025 a0001c0001t0030 a0001c0001t0037 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0022 a0001c0002t0023 a0001c0002t0024 a0001c0002t0051 a0001c0002t0060 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0009 a0001c0003t0010 a0001c0003t0021 a0001c0003t0039 a0001c0003t0050 a0001c0003t0053 a0001c0004t0018 a0001c0004t0028 a0001c0004t0052 a0001c0004t0055 a0001c0006t0027 a0001c0006t0049 a0001c0007t0001 a0001c0007t0012 a0001c0007t0016 a0001c0021t0013 a0001c0034t0058 a0001c0035t0001 a0001c0040t0026 a0001c0041t0025 a0002c0016t0004 a0002c0019t0031 a0002c0019t0054 a0003c0037t0008 a0003c0038t0011 a0004c0009t0005 a0004c0026t0001 a0005c0011t0003 a0010c0039t0001 a0011c0024t0028 a0012c0025t0018	a0001c0001t0001g0004 a0001c0001t0002g0067 a0001c0001t0002g0102 others(66): Show a0001c0001t0001g0004 a0001c0001t0002g0067 a0001c0001t0002g0102 a0001c0001t0006g0137 a0001c0001t0007g0016 a0001c0001t0011g0077 a0001c0001t0011g0150 a0001c0001t0012g0057 a0001c0001t0016g0115 a0001c0001t0018g0033 a0001c0001t0019g0025 a0001c0001t0019g0042 a0001c0001t0025g0003 a0001c0001t0030g0142 a0001c0001t0037g0158 a0001c0002t0001g0005 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0034 a0001c0002t0002g0082 a0001c0002t0005g0126 a0001c0002t0022g0092 a0001c0002t0023g0064 a0001c0002t0024g0116 a0001c0002t0051g0157 a0001c0002t0060g0146 a0001c0003t0001g0019 a0001c0003t0003g0065 a0001c0003t0004g0011 a0001c0003t0005g0120 a0001c0003t0005g0128 a0001c0003t0009g0110 a0001c0003t0009g0114 a0001c0003t0009g0119 a0001c0003t0010g0009 a0001c0003t0010g0023 a0001c0003t0010g0026 a0001c0003t0021g0155 a0001c0003t0039g0101 a0001c0003t0050g0012 a0001c0003t0053g0058 a0001c0004t0018g0096 a0001c0004t0028g0148 a0001c0004t0052g0036 a0001c0004t0055g0095 a0001c0006t0027g0050 a0001c0006t0027g0052 a0001c0006t0049g0108 a0001c0007t0001g0029 a0001c0007t0012g0154 a0001c0007t0016g0135 a0001c0021t0013g0038 a0001c0021t0013g0039 a0001c0034t0058g0149 a0001c0035t0001g0001 a0001c0040t0026g0027 a0001c0041t0025g0156 a0002c0016t0004g0053 a0002c0019t0031g0071 a0002c0019t0054g0059 a0003c0037t0008g0094 a0003c0038t0011g0002 a0004c0009t0005g0132 a0004c0026t0001g0022 a0005c0011t0003g0072 a0005c0011t0003g0078 a0010c0039t0001g0037 a0011c0024t0028g0017 a0012c0025t0018g0030	69	155	0.4452	27	c.493 others(48): Show c.4934-11986_4934-11960dupTGTTCTCTCCCAGATGCTGTATTC CAC	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54482614	A A	AATTCCAC others(20): Show AATTCCACTGTTCTCTCCCGGATGCTGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0081 a0001c0002t0008g0081	1	87	0.0115	27	c.493 others(48): Show c.4934-11976_4934-11975insGGATGCTGTATTCCACTGTTCTCT CCC	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC45B_chr17_35142817_35194343	35166086	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA20905.hp2 HG02622.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0067 a0001c0001t0005g0247 a0001c0001t0005g0067 a0001c0001t0005g0247	2	10	0.2000	27	c.115 others(46): Show c.1151+1945_1151+1946insAAAAAAAAAAAAAAAAAAAAAAAAAA A	UNC45B	ENSG00000141161.12	transcript	ENST00000394570.7	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
UNC5A_chr5_176805559_176885898	176859736	G G	GTCCTTGC others(20): Show GTCCTTGCTAGAGGGCATAGCTGCTAGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0256 a0001c0001t0005g0256	1	266	0.0038	27	c.71- others(42): Show c.71-2888_71-2887insTCCTTGCTAGAGGGCATAGCTGCTAGA	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14			chr5	TogoVar
UNC5C_chr4_95157504_95553973	95197061	T T	TTTATATA others(20): Show TTTATATATTATATTTATGTAATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02922.hp2 NA20300.hp2 HG02630.hp2 HG02922.hp2 NA20300.hp2	a0001 a0001	a0001c0005 a0001c0012 a0001c0021 a0001c0005 a0001c0012 a0001c0021	a0001c0005t0004 a0001c0012t0006 a0001c0021t0006 a0001c0005t0004 a0001c0012t0006 a0001c0021t0006	a0001c0005t0004g0054 a0001c0012t0006g0156 a0001c0021t0006g0083 a0001c0005t0004g0054 a0001c0012t0006g0156 a0001c0021t0006g0083	3	194	0.0155	27	c.213 others(46): Show c.2136+5669_2136+5670insTATATATTACATAAATATAATATATA A	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95267949	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03139.hp2 HG02055.hp1 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0001 a0001c0009t0001 a0001c0003t0001 a0001c0009t0001	a0001c0003t0001g0059 a0001c0009t0001g0195 a0001c0003t0001g0059 a0001c0009t0001g0195	2	74	0.0270	27	c.594 others(46): Show c.594+10309_594+10310insAAAAAAAAAAAAAAAAAAAAAAAAAA A	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	4/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95424518	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0191 a0001c0003t0003g0191	1	71	0.0141	27	c.125 others(46): Show c.125-88888_125-88887insAAAAAAAAAAAAAAAAAAAAAAAAAA A	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5D_chr8_35230475_35801540	35365591	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	12	0.0833	27	c.103 others(48): Show c.103+129730_103+129731insAAAAAAAAAAAAAAAAAAAAAAAA AAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35487593	A A	ACACACAC others(20): Show ACACACACACACACACACACACACCCCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0022 a0001c0003t0003g0022	1	58	0.0172	27	c.104 others(46): Show c.104-61698_104-61697insACACACACACACACACACACACCCCC C	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35710934	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	40	0.0250	27	c.111 others(46): Show c.1117+4995_1117+4996insTTTTTTTTTTTTTTTTTTTTTTTTTT T	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC80_chr2_209766832_210004296	209903566	A A	ATATATAG others(20): Show ATATATAGTATATATGTAATATATATAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0013 a0013	a0013c0027 a0013c0027	a0013c0027t0001 a0013c0027t0001	a0013c0027t0001g0032 a0013c0027t0001g0032	1	183	0.0055	27	c.458 others(46): Show c.4582-1193_4582-1192insGTATATATGTAATATATATACTATAT A	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	28/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209979316	T T	TTAAATTG others(20): Show TTAAATTGTGCCATTACACTATGAAGGC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0177 a0001c0001t0012g0177	1	186	0.0054	27	c.911 others(44): Show c.9118+608_9118+609insTAAATTGTGCCATTACACTATGAAGGC	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	59/64			chr2	TogoVar
UPF2_chr10_11915022_12047809	11938853	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA20129.hp1 HG00280.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0244 a0002c0003t0001g0122 a0001c0002t0001g0244 a0002c0003t0001g0122	2	64	0.0313	27	c.337 others(46): Show c.3379-2168_3379-2142dupAAAAAAAAAAAAAAAAAAAAAAAAAA A	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	18/21			chr10	TogoVar
UPF3A_chr13_114276601_114310817	114281899	T T	TGGAGGGA others(20): Show TGGAGGGAGGGGAGGGAGGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01192.hp1 HG03942.hp1 others(9): Show HG01106.hp2 HG01192.hp1 HG03942.hp1 HG04115.hp2 NA18906.hp2 NA18940.hp2 NA18957.hp1 NA18973.hp2 NA18985.hp1 NA19012.hp1 NA19062.hp1 NA19070.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 others(8): Show a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0002c0002t0001g0017 a0002c0002t0001g0073 a0002c0002t0001g0074 a0003c0003t0001g0071 a0003c0003t0001g0072	12	203	0.0591	27	c.207 others(40): Show c.207+56_207+82dupAGGGAGGGGAGGGAGGGGAGGGAGGGG	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPK1A_chr19_35661517_35683481	35682244	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	161	0.0062	27	c.42 others(38): Show c.4225_*4226insTATATATATATATATATATATATATAT	UPK1A	ENSG00000105668.8	transcript	ENST00000222275.3	protein_coding		3764		chr19	TogoVar
UQCC1_chr20_35297578_35416973	35338888	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0043 a0002c0002t0003g0043	1	173	0.0058	27	c.573 others(44): Show c.573+8275_573+8276insATATATATATATATATATATATATATA	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35338892	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02970.hp1 HG03041.hp2 others(1): Show HG02630.hp1 HG02970.hp1 HG03041.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0007t0001 a0002c0002t0003 a0001c0001t0001 a0001c0007t0001 a0002c0002t0003	a0001c0001t0001g0194 a0001c0007t0001g0146 a0002c0002t0003g0044 others(1): Show a0001c0001t0001g0194 a0001c0007t0001g0146 a0002c0002t0003g0044 a0002c0002t0003g0051	4	28	0.1429	27	c.573 others(44): Show c.573+8271_573+8272insATATATATATATATATATATATATATA	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35410704	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02257.hp1 HG02818.hp2 others(2): Show HG02129.hp1 HG02257.hp1 HG02818.hp2 HG03654.hp2 NA19055.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0144 a0001c0001t0001g0203 a0002c0002t0001g0089 others(2): Show a0001c0001t0001g0144 a0001c0001t0001g0203 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0102	5	61	0.0820	27	c.24+ others(42): Show c.24+1235_24+1236insTTTTTTTTTTTTTTTTTTTTTTTTTTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	1/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35412617	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA19066.hp1 NA18969.hp2 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0070 a0002c0002t0001g0094 a0002c0002t0001g0070 a0002c0002t0001g0094	2	66	0.0303	27	c.-65 others(36): Show c.-655_-654insTTTTTTTTTTTTTTTTTTTTTTTTTTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding		645		chr20	TogoVar
UQCC5_chr3_52531605_52546890	52542619	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 NA19089.hp1 HG02293.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	7	0.2857	27	c.21 others(38): Show c.2134_*2135insAAAAAAAAAAAAAAAAAAAAAAAAAAA	UQCC5	ENSG00000168273.8	transcript	ENST00000477703.6	protein_coding		730		chr3	TogoVar
URB1_chr21_32306018_32398012	32361159	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	18	0.0556	27	c.164 others(42): Show c.1640-37_1640-36insCTTTCTTTCTTTCTTTCTTTCTTTCTT	URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	12/38			chr21	TogoVar
USH2A_chr1_215617891_216428448	216030469	A A	AAATGATA others(20): Show AAATGATATATAGATATATATCACAGAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01069.hp2 others(18): Show HG00140.hp1 HG00140.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01192.hp1 HG02055.hp2 HG02451.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02896.hp2 HG03540.hp1 HG06807.hp2 NA18522.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp1	a0002 a0004 a0005 others(18): Show a0002 a0004 a0005 a0006 a0007 a0008 a0010 a0012 a0013 a0018 a0022 a0031 a0032 a0035 a0037 a0056 a0059 a0061 a0066 a0068 a0070	a0002c0071 a0004c0069 a0005c0029 others(18): Show a0002c0071 a0004c0069 a0005c0029 a0006c0073 a0007c0036 a0008c0037 a0010c0063 a0012c0021 a0013c0065 a0018c0027 a0022c0057 a0031c0040 a0032c0070 a0035c0033 a0037c0011 a0056c0034 a0059c0025 a0061c0012 a0066c0051 a0068c0046 a0070c0068	a0002c0071t0001 a0004c0069t0001 a0005c0029t0007 others(18): Show a0002c0071t0001 a0004c0069t0001 a0005c0029t0007 a0006c0073t0001 a0007c0036t0001 a0008c0037t0001 a0010c0063t0001 a0012c0021t0005 a0013c0065t0004 a0018c0027t0002 a0022c0057t0001 a0031c0040t0001 a0032c0070t0001 a0035c0033t0001 a0037c0011t0001 a0056c0034t0003 a0059c0025t0001 a0061c0012t0002 a0066c0051t0001 a0068c0046t0004 a0070c0068t0001	a0002c0071t0001g0058 a0004c0069t0001g0057 a0005c0029t0007g0043 others(18): Show a0002c0071t0001g0058 a0004c0069t0001g0057 a0005c0029t0007g0043 a0006c0073t0001g0054 a0007c0036t0001g0027 a0008c0037t0001g0033 a0010c0063t0001g0056 a0012c0021t0005g0003 a0013c0065t0004g0074 a0018c0027t0002g0042 a0022c0057t0001g0064 a0031c0040t0001g0034 a0032c0070t0001g0052 a0035c0033t0001g0037 a0037c0011t0001g0046 a0056c0034t0003g0045 a0059c0025t0001g0039 a0061c0012t0002g0005 a0066c0051t0001g0066 a0068c0046t0004g0016 a0070c0068t0001g0053	21	71	0.2958	27	c.632 others(48): Show c.6325+15961_6325+15962insATCTGTGATATATATCTATATATC ATT	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	32/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	216082271	G G	GTTTCAGC others(20): Show GTTTCAGCGAAGATTCATAGACATTACA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02055.hp1 HG02717.hp2 others(12): Show HG00140.hp1 HG02055.hp1 HG02717.hp2 HG02735.hp1 HG03098.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG06807.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20805.hp1	a0002 a0004 a0017 others(12): Show a0002 a0004 a0017 a0034 a0040 a0047 a0048 a0051 a0054 a0055 a0059 a0064 a0065 a0067 a0070	a0002c0072 a0004c0069 a0017c0008 others(12): Show a0002c0072 a0004c0069 a0017c0008 a0034c0045 a0040c0009 a0047c0044 a0048c0015 a0051c0035 a0054c0061 a0055c0047 a0059c0025 a0064c0048 a0065c0006 a0067c0024 a0070c0068	a0002c0072t0001 a0004c0069t0001 a0017c0008t0002 others(12): Show a0002c0072t0001 a0004c0069t0001 a0017c0008t0002 a0034c0045t0006 a0040c0009t0008 a0047c0044t0002 a0048c0015t0010 a0051c0035t0001 a0054c0061t0002 a0055c0047t0003 a0059c0025t0001 a0064c0048t0007 a0065c0006t0014 a0067c0024t0005 a0070c0068t0001	a0002c0072t0001g0050 a0004c0069t0001g0057 a0017c0008t0002g0021 others(12): Show a0002c0072t0001g0050 a0004c0069t0001g0057 a0017c0008t0002g0021 a0034c0045t0006g0028 a0040c0009t0008g0001 a0047c0044t0002g0073 a0048c0015t0010g0008 a0051c0035t0001g0025 a0054c0061t0002g0065 a0055c0047t0003g0017 a0059c0025t0001g0039 a0064c0048t0007g0015 a0065c0006t0014g0007 a0067c0024t0005g0040 a0070c0068t0001g0053	15	72	0.2083	27	c.529 others(46): Show c.5298+1158_5298+1184dupTGTAATGTCTATGAATCTTCGCTGAA A	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	26/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	216082279	G G	GAAGATTC others(20): Show GAAGATTCATAGACATTACATTTCAGCA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01192.hp2 HG02257.hp1 others(3): Show HG01109.hp1 HG01192.hp2 HG02257.hp1 HG02451.hp2 HG02559.hp1 HG06807.hp1	a0011 a0014 a0019 others(3): Show a0011 a0014 a0019 a0022 a0023 a0058	a0011c0059 a0014c0023 a0019c0058 others(3): Show a0011c0059 a0014c0023 a0019c0058 a0022c0057 a0023c0020 a0058c0060	a0011c0059t0001 a0014c0023t0004 a0019c0058t0001 others(3): Show a0011c0059t0001 a0014c0023t0004 a0019c0058t0001 a0022c0057t0001 a0023c0020t0006 a0058c0060t0001	a0011c0059t0001g0069 a0014c0023t0004g0013 a0019c0058t0001g0068 others(3): Show a0011c0059t0001g0069 a0014c0023t0004g0013 a0019c0058t0001g0068 a0022c0057t0001g0064 a0023c0020t0006g0004 a0058c0060t0001g0067	6	72	0.0833	27	c.529 others(46): Show c.5298+1176_5298+1177insTGCTGAAATGTAATGTCTATGAATCT T	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	26/71			chr1	TogoVar
USP10_chr16_84695000_84784922	84720576	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG04199.hp2 HG01516.hp1 HG04199.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0001 a0001c0006 a0002c0001	a0001c0006t0001 a0002c0001t0001 a0001c0006t0001 a0002c0001t0001	a0001c0006t0001g0095 a0002c0001t0001g0124 a0001c0006t0001g0095 a0002c0001t0001g0124	2	49	0.0408	27	c.22- others(44): Show c.22-12836_22-12835insTTTTTTTTTTTTTTTTTTTTTTTTTTT	USP10	ENSG00000103194.16	transcript	ENST00000219473.12	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
USP13_chr3_179648040_179794401	179687659	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp2 HG01952.hp1 others(3): Show HG01074.hp1 HG01099.hp2 HG01952.hp1 HG02074.hp1 NA18992.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0011 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0002t0001 a0001c0002t0042	a0001c0001t0001g0032 a0001c0001t0001g0048 a0001c0001t0001g0278 others(3): Show a0001c0001t0001g0032 a0001c0001t0001g0048 a0001c0001t0001g0278 a0001c0001t0011g0252 a0001c0002t0001g0167 a0001c0002t0042g0129	6	29	0.2069	27	c.295 others(44): Show c.295-2556_295-2555insAAAAAAAAAAAAAAAAAAAAAAAAAAA	USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
USP14_chr18_153557_219629	171023	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	271	0.0037	27	c.195 others(44): Show c.195+4204_195+4205insTATATATATATATATATATATATATAT	USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding	3/15			chr18	TogoVar
USP14_chr18_153557_219629	171025	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0146 a0001c0001t0003g0146	1	169	0.0059	27	c.195 others(44): Show c.195+4207_195+4208insAAAAATATATATATATATATATATATA	USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
USP14_chr18_153557_219629	171025	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0016 a0001c0001t0030g0016	1	169	0.0059	27	c.195 others(44): Show c.195+4206_195+4207insTATATATATATATATATATATATATAT	USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding	3/15			chr18	TogoVar
USP14_chr18_153557_219629	215966	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0191 a0001c0001t0004g0191	1	378	0.0026	27	c.46 others(38): Show c.4682_*4683insTTTTTTTTTTTTTTTTTTTTTTTTTTT	USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding		1338		chr18	TogoVar
USP15_chr12_62255404_62421389	62257161	T T	TATGTGTG others(20): Show TATGTGTGTGTATATGTATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00558.hp1 others(75): Show HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG01099.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp2 HG01943.hp1 HG01978.hp1 HG01981.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02615.hp1 HG02683.hp1 HG02723.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG03017.hp2 HG03139.hp2 HG03453.hp1 HG03491.hp1 HG03516.hp2 HG03669.hp1 HG03669.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 NA18612.hp2 NA18906.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18975.hp2 NA18981.hp1 NA18981.hp2 NA18988.hp1 NA18989.hp1 NA18995.hp2 NA19002.hp1 NA19005.hp2 NA19007.hp2 NA19055.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19068.hp2 NA19081.hp2 NA19087.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(18): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0047 a0001c0001t0048 a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0002t0019 a0001c0003t0002 a0001c0003t0003 a0001c0003t0044	a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0013 others(70): Show a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0003g0215 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0240 a0001c0001t0003g0242 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0249 a0001c0001t0003g0252 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0258 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0279 a0001c0001t0004g0010 a0001c0001t0004g0115 a0001c0001t0008g0018 a0001c0001t0008g0296 a0001c0001t0008g0297 a0001c0001t0008g0299 a0001c0001t0008g0300 a0001c0001t0008g0301 a0001c0001t0009g0128 a0001c0001t0009g0129 a0001c0001t0010g0015 a0001c0001t0030g0014 a0001c0001t0031g0268 a0001c0001t0033g0269 a0001c0001t0034g0259 a0001c0001t0036g0302 a0001c0001t0038g0248 a0001c0001t0039g0095 a0001c0001t0047g0267 a0001c0001t0048g0241 a0001c0002t0001g0071 a0001c0002t0005g0019 a0001c0002t0005g0021 a0001c0002t0005g0303 a0001c0002t0005g0304 a0001c0002t0005g0305 a0001c0002t0005g0306 a0001c0002t0005g0307 a0001c0002t0005g0308 a0001c0002t0005g0312 a0001c0002t0006g0323 a0001c0002t0019g0093 a0001c0003t0002g0294 a0001c0003t0003g0216 a0001c0003t0003g0217 a0001c0003t0044g0156	78	345	0.2261	27	c.-32 others(38): Show c.-3254_-3253insATGTGTGTGTATATGTATATATACACA	USP15	ENSG00000135655.16	transcript	ENST00000280377.10	protein_coding		3242		chr12	TogoVar
USP20_chr9_129830458_129886828	129846247	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0252 a0001c0006t0002g0252	1	104	0.0096	27	c.-12 others(46): Show c.-128-3565_-128-3564insATATATATATATATATATATATATAT T	USP20	ENSG00000136878.14	transcript	ENST00000372429.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr9	TogoVar

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