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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
UPK3A_chr22_45279949_45300874	45282183	TAGAAAGA others(5): Show TAGAAAGAAAGAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01517.hp2 others(31): Show HG01257.hp1 HG01258.hp2 HG01517.hp2 HG02015.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02132.hp1 HG02257.hp1 HG02683.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp2 HG02976.hp2 HG03453.hp1 HG03710.hp2 NA18946.hp2 NA18954.hp1 NA18965.hp2 NA18970.hp1 NA18972.hp2 NA18978.hp2 NA18981.hp1 NA19004.hp1 NA19054.hp1 NA19054.hp2 NA19060.hp2 NA19065.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0013 a0002c0004 a0005c0014	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0005t0001 a0001c0013t0002 a0002c0004t0001 a0005c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0021 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0053 a0001c0001t0001g0206 a0001c0001t0003g0001 a0001c0002t0001g0018 a0001c0002t0001g0037 a0001c0002t0001g0094 a0001c0002t0001g0098 a0001c0002t0001g0100 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0210 a0001c0002t0002g0220 a0001c0003t0001g0197 a0001c0005t0001g0029 a0001c0005t0001g0201 a0001c0013t0002g0054 a0002c0004t0001g0007 a0005c0014t0001g0018	34	267	0.1273	-12	c.-28 others(23): Show c.-2830_-2819delAGAAAGAAAGAA		UPK3A	ENSG00000100373.10	transcript	ENST00000216211.9	protein_coding					2765		chr22	TogoVar
UPK3BL1_chr7_102632025_102647791	102644178	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp2 HG01168.hp1 others(17): Show HG00673.hp1 HG00673.hp2 HG01168.hp1 HG01175.hp2 HG01928.hp2 HG02004.hp1 HG02015.hp2 HG02886.hp1 HG03098.hp1 NA18946.hp1 NA18946.hp2 NA18966.hp2 NA18982.hp2 NA18987.hp1 NA18987.hp2 NA18991.hp1 NA19002.hp2 NA19043.hp1 NA19077.hp1 NA19079.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 a0001c0001 a0001c0003 a0003c0004	a0001c0001t0001 a0001c0001t0008 a0001c0003t0011 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0003t0011 a0003c0004t0009	a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0020 others(14): Show a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0008g0043 a0001c0003t0011g0036 a0001c0003t0011g0046 a0003c0004t0009g0078 a0003c0004t0009g0080	20	29	0.6897	-12	c.-14 others(23): Show c.-1449_-1438delTTTTTTTTTTTT		UPK3BL1	ENSG00000267368.1	transcript	ENST00000340457.8	protein_coding					1388		chr7	TogoVar
UPK3BL1_chr7_102632025_102647791	102645034	TTTTGTTT others(5): Show TTTTGTTTGTTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0037 a0001c0003t0017g0037	1	87	0.0115	-12	c.-23 others(23): Show c.-2305_-2294delCAAACAAACAAA		UPK3BL1	ENSG00000267368.1	transcript	ENST00000340457.8	protein_coding					2244		chr7	TogoVar
UPK3BL2_chr7_102532919_102548696	102544127	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 NA19030.hp1 HG01496.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0013 a0001c0001t0004g0011 a0001c0001t0001g0013 a0001c0001t0004g0011	2	4	0.5000	-12	c.-50 others(21): Show c.-503_-492delTTTTTTTTTTTT		UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding					432		chr7	TogoVar
UPK3BL2_chr7_102532919_102548696	102545943	TTTTGTTT others(5): Show TTTTGTTTGTTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG01069.hp2 others(34): Show HG00639.hp1 HG00735.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01346.hp2 HG02040.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02145.hp2 HG02165.hp1 HG02602.hp2 HG03492.hp1 HG03831.hp1 NA18940.hp2 NA18947.hp2 NA18953.hp1 NA18959.hp2 NA18967.hp2 NA18985.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19012.hp2 NA19056.hp1 NA19060.hp1 NA19066.hp1 NA19066.hp2 NA19077.hp1 NA19080.hp2 NA19081.hp1 NA19089.hp2 NA19090.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0003t0001g0006 a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0003t0001g0006	37	137	0.2701	-12	c.-23 others(23): Show c.-2319_-2308delCAAACAAACAAA		UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding					2248		chr7	TogoVar
UPP1_chr7_48084265_48113736	48087856	GGTTTTTT others(5): Show GGTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG02976.hp2 HG01167.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0102 a0001c0001t0003g0125 a0001c0001t0001g0102 a0001c0001t0003g0125	2	426	0.0047	-12	c.-17 others(23): Show c.-1760_-1749delGTTTTTTTTTTT		UPP1	ENSG00000183696.14	transcript	ENST00000395564.9	protein_coding					1408		chr7	TogoVar
UPP2_chr2_158096876_158141154	158108887	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	135	0.0074	-12	c.180 others(29): Show c.180+2706_180+2717delGTGTGTGTGTGT		UPP2	ENSG00000007001.13	transcript	ENST00000005756.5	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
UPP2_chr2_158096876_158141154	158130449	TCAAAAAA others(5): Show TCAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0056 a0002c0002t0007g0056	1	340	0.0029	-12	c.812 others(29): Show c.812-4286_812-4275delCAAAAAAAAAAA		UPP2	ENSG00000007001.13	transcript	ENST00000005756.5	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
UQCC1_chr20_35297578_35416973	35321252	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18906.hp2 NA21309.hp2 HG03195.hp2 NA18906.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125	3	52	0.0577	-12	c.574 others(29): Show c.574-6499_574-6488delCACACACACACA		UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9						chr20	TogoVar
UQCC1_chr20_35297578_35416973	35322732	AAAAAACA others(5): Show AAAAAACAAAAAC	A A	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0064 a0002c0002t0001g0064	1	253	0.0040	-12	c.574 others(29): Show c.574-7979_574-7968delGTTTTTGTTTTT		UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9						chr20	TogoVar
UQCC1_chr20_35297578_35416973	35393491	CAAACACA others(5): Show CAAACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp2 HG01261.hp2 others(5): Show HG00642.hp1 HG01109.hp2 HG01261.hp2 HG02723.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 others(5): Show a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245	8	253	0.0316	-12	c.129 others(27): Show c.129+589_129+600delTTGTGTGTGTTT		UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	2/9						chr20	TogoVar
UQCC1_chr20_35297578_35416973	35402580	AAAACAAA others(5): Show AAAACAAACAAAC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp2 HG01261.hp2 others(10): Show HG00642.hp1 HG01109.hp2 HG01261.hp2 HG02257.hp2 HG02630.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG03041.hp1 HG03130.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0235 others(10): Show a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245	13	84	0.1548	-12	c.25- others(27): Show c.25-8396_25-8385delGTTTGTTTGTTT		UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	1/9						chr20	TogoVar
UQCC1_chr20_35297578_35416973	35413470	AAGAAAGT others(5): Show AAGAAAGTGACAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0100 a0002c0002t0001g0100	1	254	0.0039	-12	c.-15 others(23): Show c.-1519_-1508delATGTCACTTTCT		UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding					1498		chr20	TogoVar
UQCC2_chr6_33691764_33716700	33709234	TTTCCCAA others(5): Show TTTCCCAAACATG	T T	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	400	0.0025	-12	c.138 others(29): Show c.138+2303_138+2314delCATGTTTGGGAA		UQCC2	ENSG00000137288.10	transcript	ENST00000607484.6	protein_coding	1/3						chr6	TogoVar
UQCC3_chr11_62666673_62678686	62675922	CAATAAAT others(5): Show CAATAAATAAATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA19003.hp1 NA19054.hp1 NA18962.hp1 NA19003.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0005g0001 a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0005g0001	3	320	0.0094	-12	c.38 others(23): Show c.3809_*3820delAATAAATAAATA		UQCC3	ENSG00000204922.5	transcript	ENST00000377953.4	protein_coding					2237		chr11	TogoVar
UQCC4_chr16_1414752_1425747	1415969	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02922.hp1 NA18522.hp2 others(2): Show HG02257.hp1 HG02922.hp1 NA18522.hp2 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	151	0.0331	-12	c.42 others(23): Show c.4265_*4276delTTTTTTTTTTTT		UQCC4	ENSG00000174109.5	transcript	ENST00000442039.3	protein_coding					3782		chr16	TogoVar
UQCC5_chr3_52531605_52546890	52542619	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	6	0.1667	-12	c.21 others(23): Show c.2135_*2146delAAAAAAAAAAAA		UQCC5	ENSG00000168273.8	transcript	ENST00000477703.6	protein_coding					730		chr3	TogoVar
UQCC6_chr12_103945194_103962215	103961537	TTTGTTGT others(5): Show TTTGTTGTTGTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02970.hp1 NA19240.hp2 HG02109.hp1 HG02970.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0006 a0001c0001t0007g0006	3	106	0.0283	-12	c.-44 others(23): Show c.-4491_-4480delCAACAACAACAA		UQCC6	ENSG00000204954.10	transcript	ENST00000378090.9	protein_coding					4323		chr12	TogoVar
UQCRC1_chr3_48594002_48614646	48610704	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02809.hp2 HG02280.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	252	0.0079	-12	c.-10 others(23): Show c.-1096_-1085delTTTTTTTTTTTT		UQCRC1	ENSG00000010256.11	transcript	ENST00000203407.6	protein_coding					1059		chr3	TogoVar
UQCRC2_chr16_21948361_21988660	21949683	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	13	0.0769	-12	c.-37 others(23): Show c.-3740_-3729delAAAAAAAAAAAA		UQCRC2	ENSG00000140740.11	transcript	ENST00000268379.9	protein_coding					3677		chr16	TogoVar
UQCRC2_chr16_21948361_21988660	21961626	TTATATAT others(5): Show TTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01433.hp2 HG01884.hp1 others(6): Show HG01081.hp2 HG01433.hp2 HG01884.hp1 HG02145.hp1 HG02572.hp2 HG02615.hp1 HG02970.hp1 NA18956.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0004 a0003c0004t0001 a0001c0001t0001 a0001c0001t0004 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0040 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0040 a0001c0001t0001g0060 a0001c0001t0004g0082 a0003c0004t0001g0022	9	26	0.3462	-12	c.333 others(27): Show c.333-802_333-791delATATATATATAT		UQCRC2	ENSG00000140740.11	transcript	ENST00000268379.9	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
UQCRFS1_chr19_29200320_29218151	29200844	CTAAATAA others(5): Show CTAAATAAATAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00544.hp2 others(74): Show HG00323.hp1 HG00323.hp2 HG00544.hp2 HG00609.hp2 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01109.hp1 HG01255.hp1 HG01261.hp2 HG01433.hp2 HG01928.hp2 HG01943.hp1 HG01978.hp1 HG01978.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02132.hp1 HG02155.hp2 HG02273.hp2 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG02897.hp2 HG03704.hp1 HG03834.hp1 HG03927.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18747.hp1 NA18944.hp1 NA18948.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp2 NA18984.hp1 NA18986.hp2 NA18987.hp2 NA18991.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19001.hp2 NA19012.hp2 NA19054.hp1 NA19056.hp1 NA19060.hp2 NA19063.hp2 NA19068.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19078.hp2 NA19088.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0006 a0001c0001 a0001c0003 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0002c0006t0002	a0001c0001t0001g0002 a0001c0001t0002g0004 a0001c0001t0002g0010 others(16): Show a0001c0001t0001g0002 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0029 a0001c0001t0002g0036 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0071 a0001c0003t0002g0006 a0001c0003t0002g0030 a0001c0003t0002g0044 a0001c0003t0002g0067 a0002c0006t0002g0091	77	265	0.2906	-12	c.66 others(23): Show c.6692_*6703delTTTATTTATTTA		UQCRFS1	ENSG00000169021.6	transcript	ENST00000304863.6	protein_coding					4475		chr19	TogoVar
UQCRH_chr1_46298698_46321776	46311320	GGGAGGCG others(5): Show GGGAGGCGGAGGC	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01346.hp1 HG02559.hp2 others(8): Show HG01167.hp1 HG01346.hp1 HG02559.hp2 HG02572.hp1 HG02647.hp1 HG02717.hp2 HG02896.hp1 HG03471.hp1 HG03540.hp1 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0058 a0001c0001t0001g0159 others(5): Show a0001c0001t0001g0018 a0001c0001t0001g0058 a0001c0001t0001g0159 a0001c0001t0001g0169 a0001c0001t0001g0184 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207	11	140	0.0786	-12	c.243 others(29): Show c.243+1025_243+1036delAGGCGGAGGCGG		UQCRH	ENSG00000173660.12	transcript	ENST00000311672.10	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr1	TogoVar
UQCRH_chr1_46298698_46321776	46313642	CAGATAGA others(5): Show CAGATAGATAGAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03017.hp1 HG01081.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0105 a0001c0001t0001g0004 a0001c0001t0001g0105	2	316	0.0063	-12	c.244 others(29): Show c.244-2876_244-2865delGATAGATAGATA		UQCRH	ENSG00000173660.12	transcript	ENST00000311672.10	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr1	TogoVar
URAD_chr13_27972717_27993693	27987892	TGATAGAT others(5): Show TGATAGATAGATA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01243.hp2 HG01358.hp2 others(3): Show HG00323.hp1 HG01243.hp2 HG01358.hp2 HG02738.hp1 NA18906.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0021 a0002c0002t0001g0048 a0001c0001t0002g0021 a0002c0002t0001g0048	6	70	0.0857	-12	c.175 others(27): Show c.175+559_175+570delTATCTATCTATC		URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding	1/1						chr13	TogoVar
URAD_chr13_27972717_27993693	27990728	TGTATAGG others(5): Show TGTATAGGTATAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00438.hp2 others(24): Show HG00140.hp1 HG00323.hp2 HG00438.hp2 HG01106.hp1 HG01175.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01884.hp2 HG01981.hp1 HG02040.hp2 HG02280.hp1 HG02647.hp2 HG02717.hp2 HG02818.hp1 HG03041.hp1 HG03098.hp1 HG03471.hp2 HG03516.hp2 HG03579.hp1 HG06807.hp1 NA18949.hp1 NA18986.hp1 NA19003.hp1 NA19055.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0023 others(8): Show a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0002c0002t0001g0004 a0002c0002t0001g0115 a0003c0003t0001g0020	27	269	0.1004	-12	c.-21 others(23): Show c.-2103_-2092delCTATACCTATAC		URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding					2036		chr13	TogoVar
URAD_chr13_27972717_27993693	27990833	GTAGGTAT others(5): Show GTAGGTATAGGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(111): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00544.hp1 HG00609.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02135.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02818.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG04228.hp2 HG06807.hp1 NA18943.hp2 NA18944.hp2 NA18949.hp1 NA18952.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18973.hp2 NA18977.hp1 NA18978.hp1 NA18982.hp1 NA18986.hp1 NA18991.hp2 NA18992.hp2 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19011.hp1 NA19055.hp2 NA19062.hp1 NA19063.hp1 NA19067.hp2 NA19076.hp1 NA19077.hp1 NA19081.hp2 NA19084.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0007c0008	a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 a0003c0003t0001 a0007c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0018 others(28): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0030 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0048 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0004g0117 a0003c0003t0001g0012 a0003c0003t0001g0016 a0003c0003t0001g0020 a0003c0003t0001g0031 a0003c0003t0001g0047 a0003c0003t0001g0124 a0007c0008t0001g0121	114	234	0.4872	-12	c.-22 others(23): Show c.-2208_-2197delTACCTATACCTA		URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding					2141		chr13	TogoVar
URAD_chr13_27972717_27993693	27990866	GGTATAGG others(5): Show GGTATAGGTATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	421	0.0024	-12	c.-22 others(23): Show c.-2241_-2230delATATACCTATAC		URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding					2174		chr13	TogoVar
URAD_chr13_27972717_27993693	27990884	GGTATAGG others(5): Show GGTATAGGTATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18984.hp2 NA18988.hp2 others(1): Show NA18962.hp2 NA18984.hp2 NA18988.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	4	424	0.0094	-12	c.-22 others(23): Show c.-2259_-2248delATATACCTATAC		URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding					2192		chr13	TogoVar
URAD_chr13_27972717_27993693	27991163	ATAGGTGT others(5): Show ATAGGTGTAGGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	425	0.0024	-12	c.-25 others(23): Show c.-2538_-2527delCACCTACACCTA		URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding					2471		chr13	TogoVar
URAD_chr13_27972717_27993693	27991190	GGTATATG others(5): Show GGTATATGTATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0016 a0003c0003t0001g0016	1	226	0.0044	-12	c.-25 others(23): Show c.-2565_-2554delATATACATATAC		URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding					2498		chr13	TogoVar
URAD_chr13_27972717_27993693	27991313	ATATGTAT others(5): Show ATATGTATAGGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02970.hp1 HG03225.hp2 HG02723.hp2 HG02970.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0130 a0001c0001t0002g0049 a0001c0001t0002g0130	3	425	0.0071	-12	c.-26 others(23): Show c.-2688_-2677delCACCTATACATA		URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding					2621		chr13	TogoVar
URAD_chr13_27972717_27993693	27991325	GTAGGTAT others(5): Show GTAGGTATAGGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 NA19240.hp1 HG03486.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0034 a0001c0001t0001g0013 a0001c0001t0001g0034	2	229	0.0087	-12	c.-27 others(23): Show c.-2700_-2689delTACCTATACCTA		URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding					2633		chr13	TogoVar
URB1_chr21_32306018_32398012	32361156	GAAAAAAG others(5): Show GAAAAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02717.hp1 HG03471.hp1 others(2): Show HG02630.hp1 HG02717.hp1 HG03471.hp1 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0013 a0001c0009t0048 a0001c0009t0013 a0001c0009t0048	a0001c0009t0013g0086 a0001c0009t0013g0088 a0001c0009t0013g0089 others(2): Show a0001c0009t0013g0086 a0001c0009t0013g0088 a0001c0009t0013g0089 a0001c0009t0013g0090 a0001c0009t0048g0085	5	332	0.0151	-12	c.164 others(27): Show c.1640-45_1640-34delTCTTTCTTTTTT		URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	12/38						chr21	TogoVar
URB2_chr1_229621247_229665200	229622018	CATCTATC others(5): Show CATCTATCTATCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00597.hp1 others(42): Show HG00323.hp2 HG00408.hp2 HG00597.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG01071.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01515.hp2 HG01975.hp2 HG01993.hp2 HG02074.hp1 HG02080.hp2 HG02559.hp1 HG02602.hp2 HG02738.hp2 HG02970.hp2 HG03130.hp2 HG03239.hp2 HG03688.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04228.hp1 NA18522.hp2 NA18946.hp2 NA18967.hp2 NA18972.hp1 NA18979.hp1 NA18987.hp1 NA18993.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19063.hp1 NA19080.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0019 a0002c0003 others(2): Show a0001c0001 a0001c0019 a0002c0003 a0002c0004 a0003c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(7): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0019t0013 a0002c0003t0001 a0002c0004t0008 a0003c0002t0002 a0003c0002t0005 a0003c0002t0010 a0003c0002t0011	a0001c0001t0003g0002 a0001c0001t0003g0004 a0001c0001t0003g0016 others(33): Show a0001c0001t0003g0002 a0001c0001t0003g0004 a0001c0001t0003g0016 a0001c0001t0003g0018 a0001c0001t0003g0039 a0001c0001t0003g0042 a0001c0001t0003g0169 a0001c0001t0003g0174 a0001c0001t0003g0179 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0190 a0001c0001t0003g0200 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0208 a0001c0001t0004g0046 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0007g0198 a0001c0019t0013g0171 a0002c0003t0001g0005 a0002c0003t0001g0062 a0002c0003t0001g0081 a0002c0003t0001g0083 a0002c0004t0008g0026 a0003c0002t0002g0007 a0003c0002t0002g0035 a0003c0002t0002g0140 a0003c0002t0002g0149 a0003c0002t0005g0146 a0003c0002t0010g0006 a0003c0002t0010g0008 a0003c0002t0011g0142	45	76	0.5921	-12	c.-43 others(23): Show c.-4351_-4340delATCTATCTATCT		URB2	ENSG00000135763.10	transcript	ENST00000258243.7	protein_coding					4228		chr1	TogoVar
URGCP_chr7_43870913_43911596	43898746	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00639.hp1 others(22): Show HG00140.hp1 HG00140.hp2 HG00639.hp1 HG00735.hp1 HG01081.hp2 HG01106.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01943.hp2 HG02293.hp2 HG02486.hp2 HG02602.hp2 HG02735.hp1 HG03654.hp1 HG03654.hp2 HG03834.hp1 HG03942.hp2 NA19084.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0001 a0002c0001t0001 a0001c0004t0001 a0002c0001t0001	a0001c0004t0001g0013 a0001c0004t0001g0016 a0001c0004t0001g0024 others(16): Show a0001c0004t0001g0013 a0001c0004t0001g0016 a0001c0004t0001g0024 a0001c0004t0001g0045 a0001c0004t0001g0046 a0001c0004t0001g0047 a0001c0004t0001g0048 a0001c0004t0001g0086 a0001c0004t0001g0087 a0001c0004t0001g0088 a0001c0004t0001g0090 a0001c0004t0001g0091 a0001c0004t0001g0093 a0001c0004t0001g0094 a0001c0004t0001g0095 a0001c0004t0001g0096 a0001c0004t0001g0097 a0001c0004t0001g0098 a0002c0001t0001g0092	25	294	0.0850	-12	c.14+ others(27): Show c.14+7804_14+7815delATTTATTTATTT		URGCP	ENSG00000106608.17	transcript	ENST00000453200.6	protein_coding	1/5						chr7	TogoVar
URGCP_chr7_43870913_43911596	43898780	AATAAATA others(5): Show AATAAATAAATTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp1 HG02818.hp2 others(2): Show HG02630.hp2 HG02647.hp1 HG02818.hp2 HG03540.hp2 NA18522.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0015 a0002c0001t0001g0258 a0002c0001t0001g0259 others(1): Show a0002c0001t0001g0015 a0002c0001t0001g0258 a0002c0001t0001g0259 a0002c0001t0001g0261	5	402	0.0124	-12	c.14+ others(27): Show c.14+7770_14+7781delAAATTTATTTAT		URGCP	ENSG00000106608.17	transcript	ENST00000453200.6	protein_coding	1/5						chr7	TogoVar
URI1_chr19_29937239_30021612	29944140	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02015.hp2 HG02738.hp2 others(5): Show HG00140.hp2 HG02015.hp2 HG02738.hp2 HG04228.hp2 NA18955.hp1 NA18966.hp2 NA18985.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0050 a0001c0001t0001g0092 a0001c0001t0001g0093 others(5): Show a0001c0001t0001g0050 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0004t0001g0096	8	45	0.1778	-12	c.117 others(29): Show c.117+1518_117+1529delTATATATATATA		URI1	ENSG00000105176.18	transcript	ENST00000392271.6	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr19	TogoVar
URI1_chr19_29937239_30021612	29970128	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00609.hp2 others(21): Show HG00438.hp1 HG00558.hp1 HG00609.hp2 HG00741.hp2 HG01168.hp1 HG01175.hp1 HG01433.hp2 HG01516.hp2 HG01934.hp2 HG02257.hp2 HG02602.hp1 HG02738.hp2 HG02809.hp1 HG03490.hp2 HG03491.hp2 HG04228.hp1 NA18955.hp2 NA18959.hp2 NA18964.hp1 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0004t0001 a0001c0006t0001 a0001c0001t0001 a0001c0004t0001 a0001c0006t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0087 others(19): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0167 a0001c0001t0001g0174 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0209 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0242 a0001c0004t0001g0089 a0001c0006t0001g0221	24	166	0.1446	-12	c.118 others(29): Show c.118-1048_118-1037delTTTTTTTTTTTT		URI1	ENSG00000105176.18	transcript	ENST00000392271.6	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr19	TogoVar
URI1_chr19_29937239_30021612	29974240	GCACTCAA others(5): Show GCACTCAATAAGT	G G	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	326	0.0031	-12	c.152 others(29): Show c.152+3014_152+3025delCACTCAATAAGT		URI1	ENSG00000105176.18	transcript	ENST00000392271.6	protein_coding	2/10						chr19	TogoVar
URI1_chr19_29937239_30021612	29985119	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG03540.hp2 NA19067.hp2 HG02056.hp2 HG03540.hp2 NA19067.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0310 a0002c0002t0002g0314 a0002c0002t0003g0015 a0002c0002t0002g0310 a0002c0002t0002g0314 a0002c0002t0003g0015	3	4	0.7500	-12	c.153 others(25): Show c.153-57_153-46delAAAAAAAAAAAA		URI1	ENSG00000105176.18	transcript	ENST00000392271.6	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr19	TogoVar
URM1_chr9_128366374_128397016	128373173	TCCACCCA others(5): Show TCCACCCACCCAC	T T	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	342	0.0029	-12	c.35+ others(27): Show c.35+1772_35+1783delCACCCACCCACC		URM1	ENSG00000167118.11	transcript	ENST00000372853.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr9	TogoVar
URM1_chr9_128366374_128397016	128395694	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02895.hp2 HG02897.hp1 HG02622.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0035 a0001c0001t0007g0036 a0001c0001t0007g0035 a0001c0001t0007g0036	3	64	0.0469	-12	c.59 others(23): Show c.5961_*5972delAAAAAAAAAAAA		URM1	ENSG00000167118.11	transcript	ENST00000372853.9	protein_coding					3679		chr9	TogoVar
UROC1_chr3_126476166_126522773	126500909	ACACAGCC others(5): Show ACACAGCCTGGGC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00639.hp2 others(47): Show HG00140.hp2 HG00280.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01123.hp2 HG01243.hp1 HG01258.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01943.hp2 HG02258.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02738.hp1 HG02895.hp2 HG02896.hp1 HG02976.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03540.hp2 HG03704.hp1 HG03831.hp2 HG03942.hp2 HG04228.hp2 NA18522.hp2 NA18906.hp1 NA19043.hp2 NA19240.hp1 NA20752.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0012	a0001c0003 a0001c0004 a0001c0008 others(7): Show a0001c0003 a0001c0004 a0001c0008 a0001c0011 a0002c0005 a0002c0029 a0003c0025 a0008c0027 a0008c0028 a0012c0026	a0001c0003t0001 a0001c0004t0002 a0001c0004t0003 others(15): Show a0001c0003t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0005 a0001c0004t0007 a0001c0004t0011 a0001c0008t0003 a0001c0008t0005 a0001c0011t0001 a0002c0005t0002 a0002c0005t0003 a0002c0005t0006 a0002c0005t0013 a0002c0029t0001 a0003c0025t0001 a0008c0027t0005 a0008c0028t0001 a0012c0026t0002	a0001c0003t0001g0001 a0001c0003t0001g0028 a0001c0003t0001g0133 others(35): Show a0001c0003t0001g0001 a0001c0003t0001g0028 a0001c0003t0001g0133 a0001c0003t0001g0148 a0001c0003t0001g0151 a0001c0003t0001g0160 a0001c0003t0001g0190 a0001c0003t0001g0234 a0001c0003t0001g0267 a0001c0003t0001g0294 a0001c0004t0002g0149 a0001c0004t0002g0159 a0001c0004t0002g0202 a0001c0004t0002g0225 a0001c0004t0003g0055 a0001c0004t0005g0050 a0001c0004t0007g0233 a0001c0004t0007g0265 a0001c0004t0007g0268 a0001c0004t0007g0281 a0001c0004t0007g0286 a0001c0004t0011g0161 a0001c0008t0003g0064 a0001c0008t0005g0066 a0001c0011t0001g0065 a0002c0005t0002g0138 a0002c0005t0002g0141 a0002c0005t0002g0297 a0002c0005t0003g0136 a0002c0005t0003g0163 a0002c0005t0006g0008 a0002c0005t0006g0145 a0002c0005t0013g0142 a0002c0029t0001g0137 a0003c0025t0001g0266 a0008c0027t0005g0144 a0008c0028t0001g0143 a0012c0026t0002g0150	50	378	0.1323	-12	c.966 others(25): Show c.966-47_966-36delGCCCAGGCTGTG		UROC1	ENSG00000159650.9	transcript	ENST00000290868.7	protein_coding	10/19						chr3	TogoVar
UROC1_chr3_126476166_126522773	126502202	TTGTGTGT others(5): Show TTGTGTGTGTGTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG01099.hp2 others(1): Show HG00099.hp2 HG00323.hp2 HG01099.hp2 HG03239.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0016 a0005c0017 a0001c0001 a0005c0016 a0005c0017	a0001c0001t0007 a0001c0001t0008 a0005c0016t0007 others(1): Show a0001c0001t0007 a0001c0001t0008 a0005c0016t0007 a0005c0017t0001	a0001c0001t0007g0307 a0001c0001t0008g0219 a0005c0016t0007g0076 others(1): Show a0001c0001t0007g0307 a0001c0001t0008g0219 a0005c0016t0007g0076 a0005c0017t0001g0077	4	378	0.0106	-12	c.903 others(27): Show c.903-934_903-923delGACACACACACA		UROC1	ENSG00000159650.9	transcript	ENST00000290868.7	protein_coding	9/19						chr3	TogoVar
USB1_chr16_57996407_58026618	58015080	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(166): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18960.hp1 NA18962.hp2 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18973.hp2 NA18984.hp2 NA18987.hp2 NA18988.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19076.hp2 NA19078.hp1 NA19081.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0005 a0001c0001 a0001c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0004t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(54): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0002g0001 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0116 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0007g0012 a0001c0001t0010g0001 a0001c0001t0013g0117 a0001c0004t0001g0092 a0004c0005t0001g0073	169	256	0.6602	-12	c.503 others(27): Show c.503+785_503+796delATAAATAAATAA		USB1	ENSG00000103005.13	transcript	ENST00000219281.8	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr16	TogoVar
USF1_chr1_161034251_161050977	161034450	CATAAATA others(5): Show CATAAATAAATAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(86): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01123.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG02004.hp2 HG02071.hp1 HG02135.hp2 HG02145.hp2 HG02273.hp2 HG02293.hp2 HG02622.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG03209.hp2 HG03471.hp2 HG03491.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG04184.hp1 NA18939.hp1 NA18940.hp1 NA18943.hp2 NA18954.hp1 NA18960.hp2 NA18963.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18977.hp1 NA18980.hp1 NA18991.hp1 NA18992.hp2 NA18999.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19068.hp1 NA19074.hp1 NA19076.hp2 NA19082.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0014 a0001c0001t0017	a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0077 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0077 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0044 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0003g0047 a0001c0001t0004g0071 a0001c0001t0006g0010 a0001c0001t0006g0015 a0001c0001t0006g0045 a0001c0001t0008g0009 a0001c0001t0008g0048 a0001c0001t0014g0050 a0001c0001t0017g0092	89	169	0.5266	-12	c.54 others(23): Show c.5458_*5469delTTATTTATTTAT		USF1	ENSG00000158773.14	transcript	ENST00000368021.7	protein_coding					4800		chr1	TogoVar
USF1_chr1_161034251_161050977	161041946	GGAGAGAG others(5): Show GGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0045 a0001c0001t0006g0045	1	393	0.0025	-12	c.277 others(27): Show c.277-112_277-101delTCTCTCTCTCTC		USF1	ENSG00000158773.14	transcript	ENST00000368021.7	protein_coding	5/10						chr1	TogoVar
USF3_chr3_113643385_113701642	113652108	AGTGTGTG others(5): Show AGTGTGTGTGTGT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp1 HG02486.hp1 HG02622.hp2 others(3): Show HG01243.hp1 HG02486.hp1 HG02622.hp2 HG02922.hp1 HG02965.hp1 HG03471.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0005 a0002c0003 a0003c0005	a0002c0003t0042 a0003c0005t0020 a0003c0005t0039 others(1): Show a0002c0003t0042 a0003c0005t0020 a0003c0005t0039 a0003c0005t0051	a0002c0003t0042g0065 a0003c0005t0020g0148 a0003c0005t0020g0150 others(3): Show a0002c0003t0042g0065 a0003c0005t0020g0148 a0003c0005t0020g0150 a0003c0005t0020g0151 a0003c0005t0039g0152 a0003c0005t0051g0149	6	241	0.0249	-12	c.28 others(23): Show c.2824_*2835delACACACACACAC		USF3	ENSG00000176542.10	transcript	ENST00000316407.9	protein_coding	7/7				2824		chr3	TogoVar
USF3_chr3_113643385_113701642	113657263	TTGCTGCT others(5): Show TTGCTGCTGCTGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG04199.hp2 HG04199.hp2	a0018 a0018	a0018c0025 a0018c0025	a0018c0025t0003 a0018c0025t0003	a0018c0025t0003g0222 a0018c0025t0003g0222	1	31	0.0323	-12	c.440 others(21): Show c.4407_4418delGCAGCAGCAGCA	p.Gln others(15): Show p.Gln1470_Gln1473del	USF3	ENSG00000176542.10	transcript	ENST00000316407.9	protein_coding	7/7	4825/13704	4407/6738	1469/2245			chr3	TogoVar

Search by Variant

Search

Search Results