view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UPB1_chr22_24490332_24533390 | 24509360 | TGAAAAA | T | intron_variant | MODIFIER | HG02572.hp1 HG02615.hp1 HG02622.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0010a0001c0001t0032others(1): Show | a0001c0001t0008g0015 a0001c0001t0010g0240 a0001c0001t0032g0015 others(1): Show |
4 | 347 | 0.0115 | -6 | c.365 others(23): Show |
UPB1 | ENSG00000100024.15 | transcript | ENST00000326010.10 | protein_coding | 3/9 | chr22 | TogoVar | |||||||
UPB1_chr22_24490332_24533390 | 24509361 | GAAAAAA | G | intron_variant | MODIFIER | HG02056.hp2 HG02922.hp2 HG02965.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0077 others(19): Show |
24 | 81 | 0.2963 | -6 | c.365 others(23): Show |
UPB1 | ENSG00000100024.15 | transcript | ENST00000326010.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
UPF1_chr19_18826959_18873230 | 18829613 | ATATATG | A | upstream_gene_variant | MODIFIER | HG01361.hp2 HG02145.hp2 HG02280.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0017 others(9): Show |
13 | 386 | 0.0337 | -6 | c.-25 others(17): Show |
UPF1 | ENSG00000005007.14 | transcript | ENST00000262803.10 | protein_coding | 2345 | chr19 | TogoVar | |||||||
UPF1_chr19_18826959_18873230 | 18829619 | GTATATA | G | upstream_gene_variant | MODIFIER | HG01123.hp2 HG01258.hp1 HG01433.hp1 others(28): Show |
a0001 | a0001c0001a0001c0004a0001c0015others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0101 others(21): Show |
31 | 190 | 0.1632 | -6 | c.-25 others(17): Show |
UPF1 | ENSG00000005007.14 | transcript | ENST00000262803.10 | protein_coding | 2339 | chr19 | TogoVar | |||||||
UPF2_chr10_11915022_12047809 | 11921816 | ACTTATT | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00609.hp2 others(53): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0003 | a0001c0001t0001a0001c0008t0001a0002c0003t0001 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0015 others(53): Show |
56 | 332 | 0.1687 | -6 | c.381 others(23): Show |
UPF2 | ENSG00000151461.20 | transcript | ENST00000357604.10 | protein_coding | 21/21 | chr10 | TogoVar | |||||||
UPF2_chr10_11915022_12047809 | 11993149 | CAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(95): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(95): Show |
98 | 262 | 0.3740 | -6 | c.184 others(25): Show |
UPF2 | ENSG00000151461.20 | transcript | ENST00000357604.10 | protein_coding | 8/21 | chr10 | TogoVar | |||||||
UPF2_chr10_11915022_12047809 | 11994975 | CAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00609.hp2 others(43): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(43): Show |
46 | 158 | 0.2911 | -6 | c.184 others(25): Show |
UPF2 | ENSG00000151461.20 | transcript | ENST00000357604.10 | protein_coding | 8/21 | chr10 | TogoVar | |||||||
UPF2_chr10_11915022_12047809 | 12007834 | GTAATAA | G | intron_variant | MODIFIER | HG01099.hp1 HG01106.hp1 HG01109.hp2 others(56): Show |
a0001 | a0001c0001a0001c0005a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(55): Show |
59 | 203 | 0.2906 | -6 | c.130 others(25): Show |
UPF2 | ENSG00000151461.20 | transcript | ENST00000357604.10 | protein_coding | 4/21 | chr10 | TogoVar | |||||||
UPF2_chr10_11915022_12047809 | 12038378 | TCACACA | T | intron_variant | MODIFIER | HG00140.hp2 HG01978.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0002a0001c0001t0016a0001c0002t0001others(1): Show | a0001c0001t0002g0149 a0001c0001t0002g0207 a0001c0001t0016g0333 others(3): Show |
6 | 139 | 0.0432 | -6 | c.-18 others(23): Show |
UPF2 | ENSG00000151461.20 | transcript | ENST00000357604.10 | protein_coding | 1/21 | chr10 | TogoVar | |||||||
UPF3A_chr13_114276601_114310817 | 114277318 | AAAAAAC | A | upstream_gene_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01106.hp2 others(43): Show |
a0002a0003a0007others(1): Show | a0002c0002a0003c0003a0007c0005others(1): Show | a0002c0002t0001a0003c0003t0001a0003c0003t0009others(2): Show | a0002c0002t0001g0017 a0002c0002t0001g0026 a0002c0002t0001g0062 others(39): Show |
46 | 448 | 0.1027 | -6 | c.-43 others(17): Show |
UPF3A | ENSG00000169062.15 | transcript | ENST00000375299.8 | protein_coding | 4282 | chr13 | TogoVar | |||||||
UPF3A_chr13_114276601_114310817 | 114280370 | CTAAAGA | C | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01496.hp2 others(9): Show |
a0004a0011 | a0004c0004a0011c0009 | a0004c0004t0002a0004c0004t0003a0011c0009t0014 | a0004c0004t0002g0006 a0004c0004t0002g0377 a0004c0004t0002g0378 others(6): Show |
12 | 448 | 0.0268 | -6 | c.-12 others(17): Show |
UPF3A | ENSG00000169062.15 | transcript | ENST00000375299.8 | protein_coding | 1230 | chr13 | TogoVar | |||||||
UPF3B_chrX_119829022_119857963 | 119842599 | CACACAT | C | intron_variant | MODIFIER | HG01099.hp1 HG01167.hp1 HG01169.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 a0001c0001t0002g0042 |
5 | 259 | 0.0193 | -6 | c.580 others(21): Show |
UPF3B | ENSG00000125351.14 | transcript | ENST00000276201.7 | protein_coding | 5/10 | chrX | TogoVar | |||||||
UPK1B_chr3_119168598_119210143 | 119179352 | GATATAT | G | intron_variant | MODIFIER | HG00423.hp1 HG01106.hp1 HG02165.hp2 others(9): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0001g0046 a0001c0001t0001g0156 a0001c0001t0001g0158 others(9): Show |
12 | 217 | 0.0553 | -6 | c.-29 others(23): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UPK1B_chr3_119168598_119210143 | 119179393 | ATATATT | A | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG01243.hp1 others(28): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0003 | a0001c0001t0001g0025 a0001c0001t0001g0258 a0001c0001t0001g0260 others(26): Show |
31 | 420 | 0.0738 | -6 | c.-29 others(23): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
UPK1B_chr3_119168598_119210143 | 119203340 | CAAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp1 others(68): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0021 others(60): Show |
71 | 206 | 0.3447 | -6 | c.733 others(21): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UPK1B_chr3_119168598_119210143 | 119208799 | TCTCACA | T | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02572.hp2 HG02717.hp1 others(5): Show |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0001a0002c0002t0001 | a0001c0004t0001g0136 a0001c0004t0001g0142 a0001c0004t0001g0237 others(4): Show |
8 | 358 | 0.0223 | -6 | c.*48 others(17): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 3657 | chr3 | TogoVar | |||||||
UPK3A_chr22_45279949_45300874 | 45283989 | ATTTTTT | A | upstream_gene_variant | MODIFIER | HG00609.hp2 HG00735.hp1 HG01070.hp1 others(24): Show |
a0001a0011 | a0001c0002a0001c0007a0011c0025 | a0001c0002t0002a0001c0007t0002a0011c0025t0002 | a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0214 others(8): Show |
27 | 208 | 0.1298 | -6 | c.-10 others(17): Show |
UPK3A | ENSG00000100373.10 | transcript | ENST00000216211.9 | protein_coding | 959 | chr22 | TogoVar | |||||||
UPK3BL2_chr7_102532919_102548696 | 102544127 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG02004.hp1 HG02004.hp2 HG02040.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(1): Show |
15 | 17 | 0.8824 | -6 | c.-49 others(15): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 432 | chr7 | TogoVar | |||||||
UPK3BL2_chr7_102532919_102548696 | 102547901 | CTTTTTT | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG01258.hp1 HG01517.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(1): Show |
10 | 52 | 0.1923 | -6 | c.-42 others(17): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 4206 | chr7 | TogoVar | |||||||
UPP2_chr2_158096876_158141154 | 158108887 | CGTGTGT | C | intron_variant | MODIFIER | HG00280.hp2 HG00735.hp1 HG01168.hp2 others(9): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0006 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(3): Show | a0001c0001t0001g0021 a0001c0001t0001g0146 a0001c0001t0006g0157 others(4): Show |
12 | 146 | 0.0822 | -6 | c.180 others(23): Show |
UPP2 | ENSG00000007001.13 | transcript | ENST00000005756.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UPRT_chrX_75269085_75309885 | 75274775 | GGTGTGT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(73): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 others(35): Show |
76 | 103 | 0.7379 | -6 | c.386 others(21): Show |
UPRT | ENSG00000094841.14 | transcript | ENST00000373383.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
UQCC1_chr20_35297578_35416973 | 35321108 | TAGAAAC | T | intron_variant | MODIFIER | HG00558.hp2 HG01081.hp1 HG01175.hp1 others(38): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 others(38): Show |
41 | 254 | 0.1614 | -6 | c.574 others(23): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 7/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35321252 | CTGTGTG | C | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG00738.hp1 others(22): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0001c0001t0002a0006c0008t0009 | a0001c0001t0001g0122 a0001c0001t0001g0155 a0001c0001t0001g0157 others(22): Show |
25 | 74 | 0.3378 | -6 | c.574 others(23): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 7/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35321279 | TGTGTGC | T | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02615.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0009 a0002c0002t0004g0031 a0002c0002t0004g0037 others(4): Show |
7 | 254 | 0.0276 | -6 | c.574 others(23): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 7/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35341218 | CAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00558.hp1 others(93): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(2): Show | a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0010 others(93): Show |
96 | 222 | 0.4324 | -6 | c.573 others(23): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 7/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35393503 | AACACAC | A | intron_variant | MODIFIER | HG01934.hp1 HG01993.hp1 HG01993.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0024 a0002c0002t0001g0027 a0002c0002t0001g0056 |
3 | 89 | 0.0337 | -6 | c.129 others(21): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
UQCC6_chr12_103945194_103962215 | 103961537 | TTTGTTG | T | upstream_gene_variant | MODIFIER | HG01167.hp1 HG02257.hp1 HG02280.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007 | a0001c0001t0002g0005 a0001c0001t0002g0017 a0001c0001t0002g0034 others(2): Show |
15 | 118 | 0.1271 | -6 | c.-44 others(17): Show |
UQCC6 | ENSG00000204954.10 | transcript | ENST00000378090.9 | protein_coding | 4323 | chr12 | TogoVar | |||||||
UQCRB_chr8_96217947_96240545 | 96222794 | TCACACA | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG00738.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(5): Show | a0001c0001t0001g0001 a0001c0001t0006g0017 a0001c0001t0006g0023 others(7): Show |
20 | 168 | 0.1190 | -6 | c.*82 others(17): Show |
UQCRB | ENSG00000156467.10 | transcript | ENST00000287022.10 | protein_coding | 152 | chr8 | TogoVar | |||||||
UQCRC2_chr16_21948361_21988660 | 21961626 | TTATATA | T | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG00673.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(13): Show |
26 | 43 | 0.6047 | -6 | c.333 others(21): Show |
UQCRC2 | ENSG00000140740.11 | transcript | ENST00000268379.9 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
UQCRHL_chr1_15802374_15812649 | 15805897 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00621.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 21 | 305 | 0.0689 | -6 | c.*14 others(17): Show |
UQCRHL | ENSG00000233954.7 | transcript | ENST00000696689.1 | protein_coding | 1476 | chr1 | TogoVar | |||||||
UQCRH_chr1_46298698_46321776 | 46311320 | GGGAGGC | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(288): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(135): Show |
291 | 420 | 0.6929 | -6 | c.243 others(23): Show |
UQCRH | ENSG00000173660.12 | transcript | ENST00000311672.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
URAD_chr13_27972717_27993693 | 27990728 | TGTATAG | T | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00609.hp2 others(82): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0002c0002t0004a0003c0003t0001 | a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0030 others(16): Show |
85 | 327 | 0.2599 | -6 | c.-20 others(17): Show |
URAD | ENSG00000183463.7 | transcript | ENST00000332715.6 | protein_coding | 2036 | chr13 | TogoVar | |||||||
URAD_chr13_27972717_27993693 | 27990761 | ATAGGTG | A | upstream_gene_variant | MODIFIER | HG01081.hp2 NA18975.hp2 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0108 |
3 | 314 | 0.0096 | -6 | c.-21 others(17): Show |
URAD | ENSG00000183463.7 | transcript | ENST00000332715.6 | protein_coding | 2069 | chr13 | TogoVar | |||||||
URAD_chr13_27972717_27993693 | 27990833 | GTAGGTA | G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(168): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(51): Show |
171 | 291 | 0.5876 | -6 | c.-22 others(17): Show |
URAD | ENSG00000183463.7 | transcript | ENST00000332715.6 | protein_coding | 2141 | chr13 | TogoVar | |||||||
URAD_chr13_27972717_27993693 | 27990950 | GGTATAT | G | upstream_gene_variant | MODIFIER | HG00323.hp2 HG01175.hp1 HG01257.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0062 |
5 | 398 | 0.0126 | -6 | c.-23 others(17): Show |
URAD | ENSG00000183463.7 | transcript | ENST00000332715.6 | protein_coding | 2258 | chr13 | TogoVar | |||||||
URAD_chr13_27972717_27993693 | 27990968 | TGTATAG | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(69): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(23): Show |
72 | 311 | 0.2315 | -6 | c.-23 others(17): Show |
URAD | ENSG00000183463.7 | transcript | ENST00000332715.6 | protein_coding | 2276 | chr13 | TogoVar | |||||||
URAD_chr13_27972717_27993693 | 27991034 | GGTATAT | G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00423.hp2 others(190): Show |
a0001a0005a0006 | a0001c0001a0005c0006a0006c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(55): Show |
193 | 410 | 0.4707 | -6 | c.-24 others(17): Show |
URAD | ENSG00000183463.7 | transcript | ENST00000332715.6 | protein_coding | 2342 | chr13 | TogoVar | |||||||
URAD_chr13_27972717_27993693 | 27991118 | TGTATAG | T | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02922.hp2 NA18939.hp1 others(2): Show |
a0002a0003a0007 | a0002c0002a0003c0003a0007c0008 | a0002c0002t0001a0003c0003t0001a0007c0008t0001 | a0002c0002t0001g0005 a0003c0003t0001g0020 a0007c0008t0001g0121 |
5 | 426 | 0.0117 | -6 | c.-24 others(17): Show |
URAD | ENSG00000183463.7 | transcript | ENST00000332715.6 | protein_coding | 2426 | chr13 | TogoVar | |||||||
URAD_chr13_27972717_27993693 | 27991190 | GGTATAT | G | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00609.hp2 others(84): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0002c0002t0004others(1): Show | a0001c0001t0001g0061 a0002c0002t0001g0004 a0002c0002t0001g0005 others(18): Show |
87 | 312 | 0.2788 | -6 | c.-25 others(17): Show |
URAD | ENSG00000183463.7 | transcript | ENST00000332715.6 | protein_coding | 2498 | chr13 | TogoVar | |||||||
URB1_chr21_32306018_32398012 | 32397698 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG00738.hp2 others(58): Show |
a0001a0003a0008others(5): Show | a0001c0002a0001c0008a0001c0010others(15): Show | a0001c0002t0016a0001c0008t0020a0001c0010t0047others(21): Show | a0001c0002t0016g0079 a0001c0002t0016g0080 a0001c0002t0016g0316 others(54): Show |
61 | 181 | 0.3370 | -6 | c.-47 others(17): Show |
URB1 | ENSG00000142207.7 | transcript | ENST00000382751.4 | protein_coding | 4687 | chr21 | TogoVar | |||||||
URB2_chr1_229621247_229665200 | 229621398 | ACATACC | A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp2 others(101): Show |
a0003a0004a0005others(4): Show | a0003c0002a0003c0013a0003c0018others(8): Show | a0003c0002t0002a0003c0002t0005a0003c0002t0010others(11): Show | a0003c0002t0002g0001 a0003c0002t0002g0006 a0003c0002t0002g0007 others(62): Show |
104 | 354 | 0.2938 | -6 | c.-49 others(17): Show |
URB2 | ENSG00000135763.10 | transcript | ENST00000258243.7 | protein_coding | 4848 | chr1 | TogoVar | |||||||
URGCP_chr7_43870913_43911596 | 43891321 | ATACAGG | A | intron_variant | MODIFIER | HG02523.hp2 NA18747.hp1 NA18995.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0022 a0002c0001t0001g0061 |
3 | 402 | 0.0075 | -6 | c.15- others(21): Show |
URGCP | ENSG00000106608.17 | transcript | ENST00000453200.6 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
URI1_chr19_29937239_30021612 | 29944140 | CATATAT | C | intron_variant | MODIFIER | HG01074.hp2 HG01891.hp1 HG02109.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0001 | a0001c0001t0001g0054 a0001c0001t0001g0112 a0001c0001t0001g0113 others(5): Show |
8 | 45 | 0.1778 | -6 | c.117 others(23): Show |
URI1 | ENSG00000105176.18 | transcript | ENST00000392271.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
URM1_chr9_128366374_128397016 | 128376747 | GAGGCCA | G | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG01099.hp1 others(69): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0017others(1): Show | a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0011 others(29): Show |
72 | 342 | 0.2105 | -6 | c.36- others(21): Show |
URM1 | ENSG00000167118.11 | transcript | ENST00000372853.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
USF3_chr3_113643385_113701642 | 113657263 | TTGCTGC | T | disruptive_inframe_deletion | MODERATE | HG00280.hp1 HG00558.hp1 HG00621.hp2 others(45): Show |
a0003a0008a0020 | a0003c0004a0003c0005a0003c0021others(4): Show | a0003c0004t0004a0003c0004t0015a0003c0004t0026others(15): Show | a0003c0004t0004g0001 a0003c0004t0004g0136 a0003c0004t0004g0137 others(38): Show |
48 | 78 | 0.6154 | -6 | c.441 others(15): Show |
p.Gln others(15): Show |
USF3 | ENSG00000176542.10 | transcript | ENST00000316407.9 | protein_coding | 7/7 | 4825/13704 | 4413/6738 | 1471/2245 | chr3 | TogoVar | |||
USF3_chr3_113643385_113701642 | 113687229 | TCACACA | T | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00621.hp2 others(25): Show |
a0001a0003a0004others(1): Show | a0001c0002a0003c0004a0004c0006others(1): Show | a0001c0002t0002a0003c0004t0004a0003c0004t0015others(5): Show | a0001c0002t0002g0255 a0003c0004t0004g0001 a0003c0004t0004g0136 others(18): Show |
28 | 146 | 0.1918 | -6 | c.-13 others(25): Show |
USF3 | ENSG00000176542.10 | transcript | ENST00000316407.9 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
USF3_chr3_113643385_113701642 | 113687261 | ACACACC | A | intron_variant | MODIFIER | HG01891.hp2 HG03098.hp1 NA20300.hp1 |
a0003a0008 | a0003c0005a0008c0015 | a0003c0005t0035a0008c0015t0082 | a0003c0005t0035g0128 a0003c0005t0035g0129 a0008c0015t0082g0052 |
3 | 340 | 0.0088 | -6 | c.-13 others(25): Show |
USF3 | ENSG00000176542.10 | transcript | ENST00000316407.9 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215630480 | GTGTATA | G | intron_variant | MODIFIER | HG01106.hp1 HG02896.hp2 HG02922.hp1 others(2): Show |
a0009a0037a0038others(2): Show | a0009c0017a0037c0011a0038c0022others(2): Show | a0009c0017t0002a0037c0011t0001a0038c0022t0001others(2): Show | a0009c0017t0002g0024 a0037c0011t0001g0046 a0038c0022t0001g0002 others(2): Show |
5 | 38 | 0.1316 | -6 | c.152 others(27): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 70/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215724071 | GATATCT | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01069.hp2 others(43): Show |
a0002a0004a0005others(42): Show | a0002c0071a0002c0072a0004c0069others(43): Show | a0002c0071t0001a0002c0072t0001a0004c0069t0001others(43): Show | a0002c0071t0001g0058 a0002c0072t0001g0050 a0004c0069t0001g0057 others(43): Show |
46 | 72 | 0.6389 | -6 | c.120 others(27): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 61/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215771579 | CAAAAAA | C | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(5): Show |
a0011a0019a0024others(5): Show | a0011c0059a0019c0058a0024c0032others(5): Show | a0011c0059t0001a0019c0058t0001a0024c0032t0005others(5): Show | a0011c0059t0001g0069 a0019c0058t0001g0068 a0024c0032t0005g0032 others(5): Show |
8 | 11 | 0.7273 | -6 | c.109 others(27): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 55/71 | chr1 | TogoVar |