Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
UNC13C_chr15_53973441_54633605	54172703	GATATATA others(13): Show GATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0026 a0004c0009t0026	a0004c0009t0026g0021 a0004c0009t0026g0021	1	9	0.1111	-20	c.307 others(41): Show c.3071+29058_3071+29077delATATATATATATATATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54203735	TACATATA others(13): Show TACATATATATGTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00639.hp2 others(15): Show HG00099.hp2 HG00423.hp1 HG00639.hp2 HG00738.hp2 HG01109.hp1 HG01109.hp2 HG02129.hp2 HG02148.hp2 HG02155.hp2 HG02602.hp1 HG03139.hp1 NA18612.hp1 NA18947.hp2 NA18953.hp2 NA18993.hp1 NA19064.hp1 NA19064.hp2 NA19090.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0007 a0015	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0012 a0002c0015 a0002c0018 a0002c0019 a0002c0036 a0005c0027 a0007c0010 a0015c0031	a0001c0001t0007 a0001c0001t0016 a0001c0001t0047 others(14): Show a0001c0001t0007 a0001c0001t0016 a0001c0001t0047 a0001c0002t0008 a0001c0002t0023 a0001c0003t0005 a0001c0003t0010 a0001c0003t0050 a0001c0005t0003 a0001c0012t0017 a0002c0015t0012 a0002c0018t0004 a0002c0019t0054 a0002c0036t0004 a0005c0027t0008 a0007c0010t0035 a0015c0031t0001	a0001c0001t0007g0028 a0001c0001t0016g0113 a0001c0001t0047g0131 others(15): Show a0001c0001t0007g0028 a0001c0001t0016g0113 a0001c0001t0047g0131 a0001c0002t0008g0081 a0001c0002t0023g0098 a0001c0003t0005g0128 a0001c0003t0010g0026 a0001c0003t0050g0012 a0001c0005t0003g0068 a0001c0005t0003g0097 a0001c0012t0017g0117 a0002c0015t0012g0047 a0002c0018t0004g0048 a0002c0019t0054g0059 a0002c0036t0004g0010 a0005c0027t0008g0073 a0007c0010t0035g0140 a0015c0031t0001g0051	18	156	0.1154	-20	c.307 others(41): Show c.3072-31271_3072-31252delTATATATGTATATATACACA	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455197	CTCTCTCT others(13): Show CTCTCTCTCTATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0147 a0001c0001t0059g0147	1	151	0.0066	-20	c.493 others(41): Show c.4934-39409_4934-39390delCTCTCTCTATATATATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455201	CTCTCTAT others(13): Show CTCTCTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0124 a0001c0001t0006g0124	1	146	0.0068	-20	c.493 others(41): Show c.4934-39405_4934-39386delCTCTATATATATATATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC5A_chr5_176805559_176885898	176805906	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	226	0.0044	-20	c.-48 others(31): Show c.-4844_-4825delAAAGAAAGAAAGAAAGAAAG	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding		4652		chr5	TogoVar
UNC5A_chr5_176805559_176885898	176805965	AGAAAGAA others(13): Show AGAAAGAAAGAAAGAAAGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	259	0.0039	-20	c.-47 others(31): Show c.-4785_-4766delGAAAGAAAGAAAGAAAGAAG	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding		4593		chr5	TogoVar
UNC5A_chr5_176805559_176885898	176829186	ATGGATGG others(13): Show ATGGATGGATGGATGGATGGT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA19240.hp2 HG01109.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0004 a0001c0001t0003 a0002c0002t0004	a0001c0001t0003g0049 a0002c0002t0004g0048 a0001c0001t0003g0049 a0002c0002t0004g0048	2	266	0.0075	-20	c.70+ others(37): Show c.70+18378_70+18397delATGGATGGTTGGATGGATGG	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5C_chr4_95157504_95553973	95256201	ATCCAGTC others(13): Show ATCCAGTCTCACACAGATGAC	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 NA18957.hp1 HG01071.hp2 NA18957.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0002 a0002c0001t0001 a0002c0001t0002	a0002c0001t0001g0152 a0002c0001t0002g0134 a0002c0001t0001g0152 a0002c0001t0002g0134	2	204	0.0098	-20	c.595 others(37): Show c.595-5554_595-5535delGTCATCTGTGTGAGACTGGA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	4/15			chr4	TogoVar
UNC5D_chr8_35230475_35801540	35248871	AAAATATA others(13): Show AAAATATATAATATATTATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	64	0.0156	-20	c.103 others(39): Show c.103+13006_103+13025delAATATATAATATATTATATA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35335740	GAAATGAG others(13): Show GAAATGAGAGATTGCAATTTT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02922.hp1 HG03516.hp2 HG02559.hp2 HG02922.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0016 a0001c0003t0003 a0001c0001t0004 a0001c0001t0016 a0001c0003t0003	a0001c0001t0004g0035 a0001c0001t0016g0019 a0001c0003t0003g0008 a0001c0001t0004g0035 a0001c0001t0016g0019 a0001c0003t0003g0008	3	63	0.0476	-20	c.103 others(39): Show c.103+99854_103+99873delAAATGAGAGATTGCAATTTT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16			chr8	TogoVar
UNC5D_chr8_35230475_35801540	35538395	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG01123.hp1 others(22): Show HG00438.hp1 HG00438.hp2 HG01123.hp1 HG01123.hp2 HG02083.hp1 HG02129.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03516.hp2 HG03688.hp1 HG03688.hp2 NA18522.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0016 a0001c0001t0019 a0001c0001t0021 a0001c0002t0008 a0001c0002t0009 a0001c0003t0003 a0001c0003t0005 a0001c0003t0012 a0001c0003t0023 a0001c0004t0003 a0001c0004t0022 a0001c0006t0004 a0001c0008t0007	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0013 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0002g0049 a0001c0001t0002g0057 a0001c0001t0010g0064 a0001c0001t0016g0019 a0001c0001t0019g0011 a0001c0001t0021g0009 a0001c0002t0008g0047 a0001c0002t0009g0063 a0001c0003t0003g0008 a0001c0003t0005g0033 a0001c0003t0005g0041 a0001c0003t0012g0058 a0001c0003t0023g0005 a0001c0004t0003g0004 a0001c0004t0022g0050 a0001c0006t0004g0031 a0001c0008t0007g0037	25	33	0.7576	-20	c.104 others(39): Show c.104-10871_104-10852delATATATATATATATATATAT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35789137	CTATATAT others(13): Show CTATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03486.hp2 HG02717.hp1 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0024 a0001c0002t0013 a0001c0002t0024	a0001c0002t0013g0062 a0001c0002t0024g0027 a0001c0002t0013g0062 a0001c0002t0024g0027	2	10	0.2000	-20	c.265 others(39): Show c.2658-1190_2658-1171delATATATATATATATATATAT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC79_chr14_93425939_93712876	93513189	CCCTTCCT others(13): Show CCCTTCCTTCCTTCTTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp1 HG00733.hp2 HG00735.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0001 a0004c0012t0001	a0004c0012t0001g0145 a0004c0012t0001g0146 a0004c0012t0001g0145 a0004c0012t0001g0146	2	186	0.0108	-20	c.899 others(39): Show c.899-10757_899-10738delTCTTTCCTTCCTTCCTTCCT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	7/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC80_chr2_209766832_210004296	209844472	TTTCTTTC others(13): Show TTTCTTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03516.hp2 HG02976.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0121 a0001c0001t0001g0106 a0001c0001t0001g0121	2	153	0.0131	-20	c.345 others(39): Show c.3454+2030_3454+2049delTTTCCTTCCTTCCTTCCTTC	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	21/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209844476	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18979.hp2 NA18978.hp2 NA18979.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0013 a0001c0004t0002g0082 a0001c0004t0001g0013 a0001c0004t0002g0082	2	131	0.0153	-20	c.345 others(39): Show c.3454+2085_3454+2104delCCTTCCTTCCTTCCTTCCTT	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	21/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209931364	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0002 a0001c0047t0002	a0001c0047t0002g0003 a0001c0047t0002g0003	1	40	0.0250	-20	c.599 others(37): Show c.5994+344_5994+363delCACACACACACACACACACA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	38/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC93B1_chr11_67986100_68009097	67987215	GTAAAATA others(13): Show GTAAAATAAAATAAAATAAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02622.hp2 HG03098.hp1 others(10): Show HG02280.hp2 HG02622.hp2 HG03098.hp1 HG03471.hp2 NA18522.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18981.hp2 NA19005.hp2 NA19009.hp1 NA19065.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0004 a0001c0002t0001 a0001c0004t0001 a0001c0001t0004 a0001c0002t0001 a0001c0004t0001	a0001c0001t0004g0011 a0001c0001t0004g0141 a0001c0002t0001g0140 others(3): Show a0001c0001t0004g0011 a0001c0001t0004g0141 a0001c0002t0001g0140 a0001c0004t0001g0006 a0001c0004t0001g0190 a0001c0004t0001g0191	13	191	0.0681	-20	c.43 others(31): Show c.4311_*4330delTTTTATTTTATTTTATTTTA	UNC93B1	ENSG00000110057.9	transcript	ENST00000227471.7	protein_coding		3884		chr11	TogoVar
UNCX_chr7_1227872_1242326	1241386	GGCCGGGG others(13): Show GGCCGGGGTGGGCGTGGAGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	404	0.0025	-20	c.44 others(31): Show c.4410_*4429delGCCGGGGTGGGCGTGGAGGT	UNCX	ENSG00000164853.9	transcript	ENST00000316333.9	protein_coding		4061		chr7	TogoVar
UNKL_chr16_1358205_1419704	1400417	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03471.hp1 NA18522.hp1 HG02965.hp2 HG03471.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0067 a0001c0001t0026 a0001c0001t0067	a0001c0001t0026g0053 a0001c0001t0026g0171 a0001c0001t0067g0016 a0001c0001t0026g0053 a0001c0001t0026g0171 a0001c0001t0067g0016	3	4	0.7500	-20	c.599 others(35): Show c.599-928_599-909delTTTTTTTTTTTTTTTTTTTT	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	4/14			chr16	TogoVar
UNKL_chr16_1358205_1419704	1414878	CGCCCTGC others(13): Show CGCCCTGCCCTGCCCTGCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	26	0.0385	-20	c.-20 others(29): Show c.-207_-188delAGGGCAGGGCAGGGCAGGGC	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding		175		chr16	TogoVar
UPB1_chr22_24490332_24533390	24496384	CACACACA others(13): Show CACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	350	0.0029	-20	c.104 others(35): Show c.104+897_104+916delTACACACACACACACACACA	UPB1	ENSG00000100024.15	transcript	ENST00000326010.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
UPF1_chr19_18826959_18873230	18829606	CATATATA others(13): Show CATATATATATATGTATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	358	0.0028	-20	c.-26 others(31): Show c.-2603_-2584delATATATATATATGTATATAT	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding		2352		chr19	TogoVar
UPF1_chr19_18826959_18873230	18852639	CTCCCTCC others(13): Show CTCCCTCCCCTCCTCTTTCTG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA18522.hp2 NA18906.hp1 HG02615.hp2 NA18522.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0055 a0001c0001t0001g0153 a0001c0001t0001g0154	3	392	0.0077	-20	c.973 others(35): Show c.973-339_973-320delCTCCTCTTTCTGTCCCTCCC	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr19	TogoVar
UPF1_chr19_18826959_18873230	18863713	AGGGCTCT others(13): Show AGGGCTCTCCTAGGGGAGGGT	A A	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	364	0.0027	-20	c.277 others(37): Show c.2775+126_2775+145delTCTCCTAGGGGAGGGTGGGC	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr19	TogoVar
UPF2_chr10_11915022_12047809	11938842	GTTTTTTT others(13): Show GTTTTTTTTTTGTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0286 a0001c0002t0001g0286	1	311	0.0032	-20	c.337 others(39): Show c.3379-2150_3379-2131delAAAAAAAAACAAAAAAAAAA	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	18/21			chr10	TogoVar
UPK1B_chr3_119168598_119210143	119179379	ATATATAT others(13): Show ATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	420	0.0024	-20	c.-29 others(37): Show c.-29+5742_-29+5761delTATATATATATATATATATT	UPK1B	ENSG00000114638.8	transcript	ENST00000264234.8	protein_coding	1/7			chr3	TogoVar
UPP2_chr2_158096876_158141154	158099590	GGAGAGAC others(13): Show GGAGAGACATCTAAGAATTGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02129.hp1 NA18612.hp2 others(2): Show HG02040.hp2 HG02129.hp1 NA18612.hp2 NA19006.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0113 a0001c0001t0002g0030 a0001c0001t0002g0116 others(1): Show a0001c0001t0001g0113 a0001c0001t0002g0030 a0001c0001t0002g0116 a0001c0001t0002g0159	5	340	0.0147	-20	c.-24 others(31): Show c.-2473_-2454delGAGAGACATCTAAGAATTGA	UPP2	ENSG00000007001.13	transcript	ENST00000005756.5	protein_coding		2285		chr2	TogoVar
UPP2_chr2_158096876_158141154	158104961	GGAAGGGA others(13): Show GGAAGGGAAGGGAAGGGAAGA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0057 a0002c0002t0016g0057	1	336	0.0030	-20	c.63- others(35): Show c.63-1120_63-1101delAGAGAAGGGAAGGGAAGGGA	UPP2	ENSG00000007001.13	transcript	ENST00000005756.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
UPP2_chr2_158096876_158141154	158104979	AGAGAAGG others(13): Show AGAGAAGGGAAGGGAAGGGAG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0077 a0002c0002t0012g0077	1	330	0.0030	-20	c.63- others(35): Show c.63-1118_63-1099delAGAAGGGAAGGGAAGGGAGG	UPP2	ENSG00000007001.13	transcript	ENST00000005756.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
UPP2_chr2_158096876_158141154	158104994	AGGGAGGG others(13): Show AGGGAGGGGAGGGGAGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(67): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02056.hp2 HG02074.hp1 HG02145.hp1 HG02257.hp2 HG02293.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02735.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03225.hp1 HG03225.hp2 HG03490.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG04204.hp2 NA18944.hp2 NA18953.hp2 NA18971.hp2 NA18977.hp1 NA18982.hp2 NA19002.hp2 NA19005.hp2 NA19043.hp1 NA19064.hp2 NA19076.hp2 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0015	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 others(43): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0002g0220 a0001c0001t0007g0202 a0001c0001t0007g0217 a0001c0001t0007g0218 a0001c0001t0007g0219 a0001c0001t0007g0222 a0001c0001t0008g0195 a0001c0001t0008g0215 a0001c0001t0015g0004	70	240	0.2917	-20	c.63- others(35): Show c.63-1071_63-1052delAGGGGAGGGGAGGGGAGGGG	UPP2	ENSG00000007001.13	transcript	ENST00000005756.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
UPRT_chrX_75269085_75309885	75274775	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	28	0.0357	-20	c.386 others(35): Show c.386+158_386+177delGTGTGTGTGTGTGTGTGTGT	UPRT	ENSG00000094841.14	transcript	ENST00000373383.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
UQCC4_chr16_1414752_1425747	1414878	CGCCCTGC others(13): Show CGCCCTGCCCTGCCCTGCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	28	0.0357	-20	c.53 others(31): Show c.5348_*5367delAGGGCAGGGCAGGGCAGGGC	UQCC4	ENSG00000174109.5	transcript	ENST00000442039.3	protein_coding		4873		chr16	TogoVar
UQCC6_chr12_103945194_103962215	103957940	TTATATTA others(13): Show TTATATTATATATTTTTAATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	1	452	0.0022	-20	c.-90 others(29): Show c.-902_-883delTATTAAAAATATATAATATA	UQCC6	ENSG00000204954.10	transcript	ENST00000378090.9	protein_coding		726		chr12	TogoVar
UQCR11_chr19_1592169_1610462	1600085	GGGCCCAG others(13): Show GGGCCCAGCAGATTCTAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(46): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00597.hp1 HG00639.hp2 HG00642.hp2 HG00741.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp2 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02015.hp1 HG02055.hp2 HG02135.hp2 HG02258.hp2 HG02486.hp1 HG02717.hp2 HG02738.hp2 HG02922.hp1 HG02970.hp1 HG03098.hp1 HG03831.hp2 HG03927.hp1 NA18941.hp2 NA18944.hp2 NA18969.hp2 NA18974.hp1 NA18984.hp2 NA18994.hp2 NA18997.hp1 NA19030.hp2 NA19043.hp2 NA19078.hp1 NA19087.hp1 NA19091.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0058 a0001c0001t0001g0067 a0001c0001t0003g0004 others(13): Show a0001c0001t0001g0058 a0001c0001t0001g0067 a0001c0001t0003g0004 a0001c0001t0003g0012 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0047 a0001c0001t0003g0049 a0001c0001t0003g0051 a0001c0001t0003g0053 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0007g0046	49	362	0.1354	-20	c.51- others(33): Show c.51-545_51-526delTTCCTAGAATCTGCTGGGCC	UQCR11	ENSG00000127540.12	transcript	ENST00000591899.8	protein_coding	1/2			chr19	TogoVar
URB2_chr1_229621247_229665200	229622018	CATCTATC others(13): Show CATCTATCTATCTATCTATCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG02129.hp2 HG02155.hp1 others(4): Show HG00673.hp2 HG02129.hp2 HG02155.hp1 HG02165.hp2 NA18955.hp2 NA18959.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0041 a0001c0001t0003g0176 others(1): Show a0001c0001t0003g0002 a0001c0001t0003g0041 a0001c0001t0003g0176 a0001c0001t0003g0183	7	38	0.1842	-20	c.-43 others(31): Show c.-4351_-4332delATCTATCTATCTATCTATCT	URB2	ENSG00000135763.10	transcript	ENST00000258243.7	protein_coding		4228		chr1	TogoVar
URGCP_chr7_43870913_43911596	43883321	AATATATA others(13): Show AATATATATATATATACATAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp2 HG02630.hp1 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0020 a0001c0003t0004g0020	2	385	0.0052	-20	c.113 others(37): Show c.113-1384_113-1365delATATGTATATATATATATAT	URGCP	ENSG00000106608.17	transcript	ENST00000453200.6	protein_coding	3/5			chr7	TogoVar
URGCP_chr7_43870913_43911596	43898746	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA20752.hp1 HG01496.hp2 NA20752.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0025 a0001c0004t0001g0025	2	271	0.0074	-20	c.14+ others(35): Show c.14+7796_14+7815delATTTATTTATTTATTTATTT	URGCP	ENSG00000106608.17	transcript	ENST00000453200.6	protein_coding	1/5			chr7	TogoVar
URGCP_chr7_43870913_43911596	43898772	AATAAATA others(13): Show AATAAATAAATAAATAAATTT	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0111 a0002c0001t0001g0111	1	402	0.0025	-20	c.14+ others(35): Show c.14+7770_14+7789delAAATTTATTTATTTATTTAT	URGCP	ENSG00000106608.17	transcript	ENST00000453200.6	protein_coding	1/5			chr7	TogoVar
URI1_chr19_29937239_30021612	29944140	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0085 a0001c0008t0001g0085	1	38	0.0263	-20	c.117 others(37): Show c.117+1510_117+1529delTATATATATATATATATATA	URI1	ENSG00000105176.18	transcript	ENST00000392271.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
UROC1_chr3_126476166_126522773	126476212	GGCGCGGG others(13): Show GGCGCGGGGTCGGGGGGCGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02717.hp1 HG02976.hp2 HG02615.hp2 HG02717.hp1 HG02976.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0003 a0004c0007t0005 a0001c0001t0003 a0004c0007t0005	a0001c0001t0003g0024 a0004c0007t0005g0057 a0001c0001t0003g0024 a0004c0007t0005g0057	3	378	0.0079	-20	c.61 others(31): Show c.6113_*6132delTCCGCCCCCCGACCCCGCGC	UROC1	ENSG00000159650.9	transcript	ENST00000290868.7	protein_coding		4953		chr3	TogoVar
USH1C_chr11_17488900_17549416	17548418	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(160): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01175.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02523.hp1 HG02572.hp2 HG02809.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03834.hp1 HG04184.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18988.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0006 a0012 a0013 a0014	a0001c0001 a0001c0003 a0001c0004 others(20): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0013 a0001c0016 a0001c0018 a0001c0023 a0001c0028 a0001c0039 a0002c0002 a0002c0005 a0002c0006 a0002c0009 a0002c0010 a0002c0012 a0002c0031 a0004c0014 a0006c0034 a0012c0022 a0013c0032 a0014c0033	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0008 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0007t0001 a0001c0008t0001 a0001c0013t0001 a0001c0013t0010 a0001c0016t0001 a0001c0018t0015 a0001c0023t0017 a0001c0028t0003 a0001c0039t0001 a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 a0002c0005t0002 a0002c0005t0013 a0002c0006t0001 a0002c0006t0002 a0002c0009t0001 a0002c0009t0002 a0002c0010t0002 a0002c0012t0001 a0002c0031t0002 a0004c0014t0001 a0004c0014t0005 a0006c0034t0002 a0012c0022t0002 a0013c0032t0002 a0014c0033t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0017 others(138): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0095 a0001c0001t0001g0116 a0001c0001t0001g0146 a0001c0001t0001g0201 a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0226 a0001c0001t0001g0236 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0284 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0294 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0002g0216 a0001c0001t0003g0204 a0001c0003t0001g0142 a0001c0003t0001g0196 a0001c0003t0001g0200 a0001c0003t0001g0202 a0001c0003t0001g0221 a0001c0003t0001g0224 a0001c0003t0001g0235 a0001c0003t0001g0246 a0001c0003t0001g0252 a0001c0003t0001g0253 a0001c0003t0001g0257 a0001c0003t0001g0264 a0001c0003t0001g0265 a0001c0003t0001g0268 a0001c0003t0001g0293 a0001c0003t0001g0317 a0001c0003t0001g0320 a0001c0003t0001g0321 a0001c0003t0003g0250 a0001c0003t0004g0030 a0001c0003t0008g0269 a0001c0004t0001g0004 a0001c0004t0001g0197 a0001c0004t0001g0205 a0001c0004t0001g0206 a0001c0004t0001g0207 a0001c0004t0001g0208 a0001c0004t0001g0209 a0001c0004t0001g0231 a0001c0004t0001g0274 a0001c0004t0001g0297 a0001c0004t0001g0313 a0001c0004t0002g0237 a0001c0004t0003g0296 a0001c0004t0003g0298 a0001c0007t0001g0192 a0001c0007t0001g0305 a0001c0007t0001g0318 a0001c0008t0001g0006 a0001c0008t0001g0217 a0001c0008t0001g0219 a0001c0008t0001g0259 a0001c0008t0001g0261 a0001c0008t0001g0286 a0001c0008t0001g0291 a0001c0013t0001g0212 a0001c0013t0001g0276 a0001c0013t0010g0026 a0001c0016t0001g0225 a0001c0018t0015g0307 a0001c0023t0017g0278 a0001c0028t0003g0063 a0001c0039t0001g0306 a0002c0002t0001g0214 a0002c0002t0002g0002 a0002c0002t0002g0014 a0002c0002t0002g0016 a0002c0002t0002g0020 a0002c0002t0002g0037 a0002c0002t0002g0058 a0002c0002t0002g0091 a0002c0002t0002g0103 a0002c0002t0002g0166 a0002c0002t0002g0183 a0002c0002t0002g0198 a0002c0002t0002g0211 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0283 a0002c0005t0001g0070 a0002c0005t0001g0222 a0002c0005t0001g0234 a0002c0005t0002g0021 a0002c0005t0002g0044 a0002c0005t0002g0045 a0002c0005t0002g0233 a0002c0005t0002g0248 a0002c0005t0002g0256 a0002c0005t0002g0262 a0002c0005t0002g0308 a0002c0005t0013g0218 a0002c0006t0001g0007 a0002c0006t0001g0260 a0002c0006t0001g0263 a0002c0006t0002g0003 a0002c0006t0002g0018 a0002c0006t0002g0019 a0002c0006t0002g0022 a0002c0006t0002g0254 a0002c0006t0002g0271 a0002c0006t0002g0285 a0002c0006t0002g0310 a0002c0006t0002g0319 a0002c0009t0001g0314 a0002c0009t0002g0008 a0002c0009t0002g0023 a0002c0009t0002g0199 a0002c0009t0002g0277 a0002c0009t0002g0315 a0002c0010t0002g0238 a0002c0010t0002g0272 a0002c0012t0001g0141 a0002c0031t0002g0255 a0004c0014t0001g0266 a0004c0014t0005g0223 a0006c0034t0002g0258 a0012c0022t0002g0220 a0013c0032t0002g0247 a0014c0033t0001g0230	163	185	0.8811	-20	c.-41 others(31): Show c.-4131_-4112delAAAAAAAAAAAAAAAAAAAA	USH1C	ENSG00000006611.17	transcript	ENST00000005226.12	protein_coding		4003		chr11	TogoVar
USH2A_chr1_215617891_216428448	215630480	GTGTATAT others(13): Show GTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02922.hp2 NA19240.hp1 HG00140.hp2 HG02922.hp2 NA19240.hp1	a0005 a0039 a0064 a0005 a0039 a0064	a0005c0029 a0039c0019 a0064c0048 a0005c0029 a0039c0019 a0064c0048	a0005c0029t0007 a0039c0019t0009 a0064c0048t0007 a0005c0029t0007 a0039c0019t0009 a0064c0048t0007	a0005c0029t0007g0043 a0039c0019t0009g0011 a0064c0048t0007g0015 a0005c0029t0007g0043 a0039c0019t0009g0011 a0064c0048t0007g0015	3	36	0.0833	-20	c.152 others(41): Show c.15298-1465_15298-1446delTATATATATATATATATACA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	70/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	215683235	ACACACAC others(13): Show ACACACACACACACACACACG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0006 a0006	a0006c0073 a0006c0073	a0006c0073t0001 a0006c0073t0001	a0006c0073t0001g0054 a0006c0073t0001g0054	1	72	0.0139	-20	c.120 others(41): Show c.12067-2879_12067-2860delCGTGTGTGTGTGTGTGTGTG	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	61/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	216355307	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02055.hp2 HG00140.hp2 HG02055.hp2	a0005 a0018 a0005 a0018	a0005c0029 a0018c0027 a0005c0029 a0018c0027	a0005c0029t0007 a0018c0027t0002 a0005c0029t0007 a0018c0027t0002	a0005c0029t0007g0043 a0018c0027t0002g0042 a0005c0029t0007g0043 a0018c0027t0002g0042	2	13	0.1538	-20	c.784 others(37): Show c.784+9626_784+9645delCTTTCTTTCTTTCTTTCTTT	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	4/71			chr1	TogoVar
USP10_chr16_84695000_84784922	84697689	ATATATAT others(13): Show ATATATATATATATATATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA19058.hp2 NA18964.hp2 NA19058.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0225 a0001c0002t0001g0289 a0001c0002t0001g0225 a0001c0002t0001g0289	2	428	0.0047	-20	c.-24 others(31): Show c.-2401_-2382delTATATATATATATATATATG	USP10	ENSG00000103194.16	transcript	ENST00000219473.12	protein_coding		2310		chr16	TogoVar
USP11_chrX_47228009_47253328	47237775	GGTGTGTG others(13): Show GGTGTGTGTGTATGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	159	0.0063	-20	c.177 others(37): Show c.177-1284_177-1265delATGTGTGTGTGTGTGTGTGT	USP11	ENSG00000102226.10	transcript	ENST00000377107.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
USP13_chr3_179648040_179794401	179750306	ATATATAT others(13): Show ATATATATATATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(56): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01099.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01361.hp1 HG01361.hp2 HG01891.hp2 HG01952.hp1 HG01993.hp1 HG02015.hp2 HG02040.hp1 HG02080.hp1 HG02132.hp1 HG02165.hp1 HG02165.hp2 HG02486.hp2 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02698.hp2 HG03017.hp1 HG03239.hp2 HG03490.hp1 HG03669.hp1 HG03927.hp1 HG04115.hp2 HG04184.hp2 NA18612.hp1 NA18943.hp1 NA18954.hp1 NA18966.hp2 NA18977.hp2 NA18978.hp1 NA18986.hp2 NA18992.hp2 NA18994.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19007.hp1 NA19011.hp2 NA19055.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19085.hp1 NA19090.hp2 NA19240.hp1 NA20752.hp2 NA20905.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0014 a0001c0001 a0001c0002 a0005c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0020 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0040 a0001c0002t0042 a0001c0002t0043 a0005c0014t0001	a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0051 others(56): Show a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0201 a0001c0001t0001g0217 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0044 a0001c0001t0002g0104 a0001c0001t0004g0266 a0001c0001t0006g0073 a0001c0001t0006g0116 a0001c0001t0006g0228 a0001c0001t0007g0013 a0001c0001t0007g0099 a0001c0001t0007g0106 a0001c0001t0007g0209 a0001c0001t0009g0103 a0001c0001t0011g0057 a0001c0001t0011g0224 a0001c0001t0012g0070 a0001c0001t0012g0113 a0001c0001t0020g0059 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0135 a0001c0002t0001g0137 a0001c0002t0001g0144 a0001c0002t0001g0152 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0003g0180 a0001c0002t0007g0166 a0001c0002t0040g0126 a0001c0002t0042g0129 a0001c0002t0043g0125 a0005c0014t0001g0076	59	293	0.2014	-20	c.171 others(39): Show c.1710-1963_1710-1944delGTGTGTATATATATATATAT	USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	13/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
USP13_chr3_179648040_179794401	179750322	GTGTGTAT others(13): Show GTGTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00642.hp2 HG01257.hp2 others(6): Show HG00597.hp2 HG00642.hp2 HG01257.hp2 HG04199.hp2 NA18943.hp2 NA18959.hp2 NA18995.hp1 NA19010.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0002g0024 others(6): Show a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0002g0024 a0001c0001t0002g0037 a0001c0001t0002g0089 a0001c0001t0002g0112 a0001c0001t0002g0120 a0001c0002t0002g0127 a0001c0002t0002g0147	9	288	0.0313	-20	c.171 others(39): Show c.1710-1961_1710-1942delGTGTATATATATATATATAT	USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	13/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
USP14_chr18_153557_219629	157920	TATATATA others(13): Show TATATATATAAATATATATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG06807.hp2 NA18906.hp1 HG03209.hp1 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0036 a0001c0002t0055 a0001c0002t0003 a0001c0002t0036 a0001c0002t0055	a0001c0002t0003g0234 a0001c0002t0036g0232 a0001c0002t0055g0233 a0001c0002t0003g0234 a0001c0002t0036g0232 a0001c0002t0055g0233	3	378	0.0079	-20	c.-77 others(29): Show c.-778_-759delATATATATAAATATATATAA	USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding		636		chr18	TogoVar
USP14_chr18_153557_219629	157946	TAAATATA others(13): Show TAAATATATATAAATATATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	378	0.0026	-20	c.-75 others(29): Show c.-752_-733delAAATATATATAAATATATAA	USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding		610		chr18	TogoVar

Search by Variant

Search

Search Results