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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UNC5D_chr8_35230475_35801540 | 35541702 | T | TTACTG | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0028 others(19): Show |
22 | 64 | 0.3438 | 5 | c.104 others(22): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UNC5D_chr8_35230475_35801540 | 35734335 | C | CAAAAA | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03453.hp1 others(2): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0002t0007a0001c0002t0009others(1): Show | a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0007g0003 others(2): Show |
5 | 30 | 0.1667 | 5 | c.176 others(24): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UNC5D_chr8_35230475_35801540 | 35740013 | C | CGGTGG | intron_variant | MODIFIER | HG02886.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 a0001c0001t0002g0057 |
2 | 64 | 0.0313 | 5 | c.176 others(24): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UNC79_chr14_93425939_93712876 | 93439315 | C | CTCTTT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(122): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(30): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(31): Show | a0001c0001t0001g0012 a0001c0001t0001g0132 a0001c0001t0001g0133 others(122): Show |
125 | 192 | 0.6510 | 5 | c.22+ others(20): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UNC79_chr14_93425939_93712876 | 93461972 | A | AAAAAG | intron_variant | MODIFIER | HG02257.hp2 HG02818.hp1 HG02886.hp2 others(3): Show |
a0001a0006a0009others(1): Show | a0001c0009a0006c0013a0009c0033others(1): Show | a0001c0009t0001a0006c0013t0001a0006c0013t0002others(2): Show | a0001c0009t0001g0008 a0006c0013t0001g0044 a0006c0013t0002g0045 others(3): Show |
6 | 52 | 0.1154 | 5 | c.23- others(20): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UNC79_chr14_93425939_93712876 | 93467628 | C | CTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG02451.hp1 HG03486.hp2 others(3): Show |
a0001a0012 | a0001c0001a0012c0027 | a0001c0001t0001a0012c0027t0001 | a0001c0001t0001g0012 a0001c0001t0001g0069 a0001c0001t0001g0132 others(3): Show |
6 | 13 | 0.4615 | 5 | c.23- others(16): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UNC79_chr14_93425939_93712876 | 93550528 | A | AAAAAG | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00558.hp2 others(69): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0020a0001c0028others(12): Show | a0001c0001t0001a0001c0020t0001a0001c0028t0001others(13): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 others(69): Show |
72 | 191 | 0.3770 | 5 | c.175 others(24): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 14/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UNC79_chr14_93425939_93712876 | 93642043 | A | AAACGT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(76): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0005others(21): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(21): Show | a0001c0001t0001g0090 a0001c0002t0001g0170 a0001c0005t0001g0025 others(76): Show |
79 | 192 | 0.4115 | 5 | c.623 others(22): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 36/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UNC79_chr14_93425939_93712876 | 93698476 | G | GTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01255.hp1 others(5): Show |
a0001a0002a0003 | a0001c0006a0002c0003a0002c0008others(1): Show | a0001c0006t0001a0002c0003t0001a0002c0008t0001others(1): Show | a0001c0006t0001g0180 a0001c0006t0001g0181 a0002c0003t0001g0087 others(5): Show |
8 | 58 | 0.1379 | 5 | c.788 others(24): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 50/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UNC93B1_chr11_67986100_68009097 | 67987215 | G | GTAAAA | downstream_gene_variant | MODIFIER | HG01081.hp2 HG01109.hp1 HG01243.hp1 others(17): Show |
a0001 | a0001c0001a0001c0005a0001c0013 | a0001c0001t0001a0001c0005t0006a0001c0013t0005 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(13): Show |
20 | 198 | 0.1010 | 5 | c.*43 others(16): Show |
UNC93B1 | ENSG00000110057.9 | transcript | ENST00000227471.7 | protein_coding | 3884 | chr11 | TogoVar | |||||||
UNC93B1_chr11_67986100_68009097 | 67987276 | T | TAAAAA | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG01070.hp1 others(19): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0003a0001c0003t0007 | a0001c0002t0002g0012 a0001c0002t0002g0023 a0001c0002t0002g0050 others(17): Show |
22 | 216 | 0.1019 | 5 | c.*42 others(16): Show |
UNC93B1 | ENSG00000110057.9 | transcript | ENST00000227471.7 | protein_coding | 3823 | chr11 | TogoVar | |||||||
UNG_chr12_109092597_109115992 | 109109763 | C | CAAAAA | intron_variant | MODIFIER | HG00673.hp2 HG01516.hp1 HG01891.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0003t0001 | a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0213 others(5): Show |
9 | 328 | 0.0274 | 5 | c.802 others(18): Show |
UNG | ENSG00000076248.12 | transcript | ENST00000242576.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
UNG_chr12_109092597_109115992 | 109109781 | A | AAAAAT | intron_variant | MODIFIER | HG00438.hp1 HG01243.hp1 HG02055.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0057 a0001c0001t0001g0082 a0001c0001t0001g0120 others(13): Show |
20 | 279 | 0.0717 | 5 | c.802 others(18): Show |
UNG | ENSG00000076248.12 | transcript | ENST00000242576.7 | protein_coding | 6/6 | chr12 | TogoVar | |||||||
UNG_chr12_109092597_109115992 | 109111557 | T | TTTTTC | downstream_gene_variant | MODIFIER | HG01891.hp2 HG03209.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016 | a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0016g0290 |
3 | 450 | 0.0067 | 5 | c.*15 others(16): Show |
UNG | ENSG00000076248.12 | transcript | ENST00000242576.7 | protein_coding | 566 | chr12 | TogoVar | |||||||
UNKL_chr16_1358205_1419704 | 1380673 | A | ATTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(180): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0008others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0002 a0001c0001t0001g0032 a0001c0001t0001g0034 others(178): Show |
183 | 197 | 0.9289 | 5 | c.126 others(24): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 10/14 | chr16 | TogoVar | |||||||
UNK_chr17_75779806_75830799 | 75782993 | T | TTAAAA | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01952.hp2 HG02055.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0011 | a0001c0001t0001a0001c0001t0008a0001c0003t0004others(2): Show | a0001c0001t0001g0167 a0001c0001t0008g0118 a0001c0001t0008g0267 others(4): Show |
7 | 135 | 0.0519 | 5 | c.-18 others(16): Show |
UNK | ENSG00000132478.10 | transcript | ENST00000589666.6 | protein_coding | 1812 | chr17 | TogoVar | |||||||
UNK_chr17_75779806_75830799 | 75802242 | C | CTTTTT | intron_variant | MODIFIER | HG02818.hp1 HG02886.hp1 HG02895.hp1 others(8): Show |
a0001 | a0001c0003a0001c0005a0001c0006 | a0001c0003t0002a0001c0003t0004a0001c0005t0017others(2): Show | a0001c0003t0002g0230 a0001c0003t0002g0232 a0001c0003t0002g0240 others(8): Show |
11 | 18 | 0.6111 | 5 | c.105 others(22): Show |
UNK | ENSG00000132478.10 | transcript | ENST00000589666.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
UPB1_chr22_24490332_24533390 | 24521179 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp1 HG01168.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0001c0001t0041a0002c0005t0002 | a0001c0001t0002g0007 a0001c0001t0002g0019 a0001c0001t0002g0040 others(13): Show |
19 | 227 | 0.0837 | 5 | c.873 others(20): Show |
UPB1 | ENSG00000100024.15 | transcript | ENST00000326010.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
UPF3B_chrX_119829022_119857963 | 119851748 | C | CTTTTT | intron_variant | MODIFIER | HG01978.hp2 HG02109.hp1 HG02976.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 others(5): Show |
8 | 10 | 0.8000 | 5 | c.263 others(18): Show |
UPF3B | ENSG00000125351.14 | transcript | ENST00000276201.7 | protein_coding | 2/10 | chrX | TogoVar | |||||||
UPK1A_chr19_35661517_35683481 | 35667306 | T | TTTTTG | intron_variant | MODIFIER | HG01346.hp1 HG02293.hp1 HG02300.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0124 a0002c0002t0001g0001 a0002c0002t0001g0022 others(5): Show |
11 | 135 | 0.0815 | 5 | c.84+ others(18): Show |
UPK1A | ENSG00000105668.8 | transcript | ENST00000222275.3 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UPK1B_chr3_119168598_119210143 | 119179398 | T | TATATA | intron_variant | MODIFIER | HG00099.hp1 HG01109.hp2 HG04115.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0004 | a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0315 others(1): Show |
4 | 413 | 0.0097 | 5 | c.-29 others(22): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
UPK1B_chr3_119168598_119210143 | 119203340 | C | CAAAAA | intron_variant | MODIFIER | NA18952.hp2 NA18959.hp2 NA18963.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0091 a0001c0001t0001g0168 others(2): Show |
6 | 141 | 0.0426 | 5 | c.733 others(20): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UPK3BL1_chr7_102632025_102647791 | 102642109 | G | GAAAAA | intron_variant | MODIFIER | HG01074.hp2 HG01081.hp2 HG01168.hp2 others(13): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0017 others(9): Show |
16 | 46 | 0.3478 | 5 | c.112 others(20): Show |
UPK3BL1 | ENSG00000267368.1 | transcript | ENST00000340457.8 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
UPK3BL1_chr7_102632025_102647791 | 102642226 | T | TTTTTC | intron_variant | MODIFIER | HG02683.hp1 HG03098.hp2 HG03654.hp1 others(1): Show |
a0004a0007 | a0004c0005a0007c0012 | a0004c0005t0002a0004c0005t0012a0004c0005t0015others(1): Show | a0004c0005t0002g0098 a0004c0005t0012g0099 a0004c0005t0015g0097 others(1): Show |
4 | 140 | 0.0286 | 5 | c.112 others(20): Show |
UPK3BL1 | ENSG00000267368.1 | transcript | ENST00000340457.8 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
UPK3BL1_chr7_102632025_102647791 | 102643232 | C | CAGAAA | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01256.hp1 HG01433.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0003 | a0001c0001t0003g0047 a0001c0003t0003g0001 a0001c0003t0003g0049 others(1): Show |
8 | 74 | 0.1081 | 5 | c.-49 others(14): Show |
UPK3BL1 | ENSG00000267368.1 | transcript | ENST00000340457.8 | protein_coding | 442 | chr7 | TogoVar | |||||||
UPK3BL1_chr7_102632025_102647791 | 102646948 | G | GAAAGA | upstream_gene_variant | MODIFIER | HG00741.hp1 HG03654.hp2 NA18942.hp2 others(6): Show |
a0001a0003 | a0001c0003a0003c0004 | a0001c0003t0002a0001c0003t0003a0003c0004t0002 | a0001c0003t0002g0052 a0001c0003t0003g0001 a0001c0003t0003g0049 others(1): Show |
9 | 135 | 0.0667 | 5 | c.-42 others(16): Show |
UPK3BL1 | ENSG00000267368.1 | transcript | ENST00000340457.8 | protein_coding | 4158 | chr7 | TogoVar | |||||||
UPK3BL2_chr7_102532919_102548696 | 102540843 | C | CAAAAA | intron_variant | MODIFIER | HG00544.hp1 HG01169.hp2 HG01934.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 8 | 160 | 0.0500 | 5 | c.485 others(20): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
UPK3BL2_chr7_102532919_102548696 | 102540845 | A | AAAAAC | intron_variant | MODIFIER | HG00544.hp2 HG02257.hp1 HG02280.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(1): Show |
4 | 180 | 0.0222 | 5 | c.485 others(20): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
UPP2_chr2_158096876_158141154 | 158104917 | A | AAAGGG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(47): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0039 others(32): Show |
50 | 270 | 0.1852 | 5 | c.63- others(20): Show |
UPP2 | ENSG00000007001.13 | transcript | ENST00000005756.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UPP2_chr2_158096876_158141154 | 158104994 | A | AGGGAG | intron_variant | MODIFIER | NA18943.hp2 NA18980.hp2 NA18986.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0119 a0001c0001t0001g0120 |
4 | 174 | 0.0230 | 5 | c.63- others(20): Show |
UPP2 | ENSG00000007001.13 | transcript | ENST00000005756.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UPP2_chr2_158096876_158141154 | 158139683 | G | GGGTTC | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00558.hp2 others(75): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(11): Show | a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0080 others(40): Show |
78 | 340 | 0.2294 | 5 | c.*47 others(16): Show |
UPP2 | ENSG00000007001.13 | transcript | ENST00000005756.5 | protein_coding | 3530 | chr2 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35317924 | A | AGGGCT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00558.hp2 others(160): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0122 a0001c0001t0001g0138 a0001c0001t0001g0139 others(160): Show |
163 | 254 | 0.6417 | 5 | c.574 others(22): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 7/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35338890 | A | ATATAT | intron_variant | MODIFIER | HG01884.hp2 HG03139.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0221 |
3 | 105 | 0.0286 | 5 | c.573 others(22): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 7/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35348371 | T | TTTTTG | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp2 HG01261.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0215 a0001c0001t0002g0238 a0001c0001t0002g0239 others(6): Show |
9 | 148 | 0.0608 | 5 | c.465 others(22): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 6/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35415259 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG02809.hp2 HG03041.hp1 HG03130.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0246 others(2): Show |
5 | 10 | 0.5000 | 5 | c.-32 others(16): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 3287 | chr20 | TogoVar | |||||||
UQCC6_chr12_103945194_103962215 | 103948040 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00735.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0007 a0001c0001t0006g0021 a0001c0001t0006g0025 others(2): Show |
30 | 175 | 0.1714 | 5 | c.*34 others(16): Show |
UQCC6 | ENSG00000204954.10 | transcript | ENST00000378090.9 | protein_coding | 2153 | chr12 | TogoVar | |||||||
UQCC6_chr12_103945194_103962215 | 103954329 | A | AAAGAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(427): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0022 others(61): Show |
430 | 460 | 0.9348 | 5 | c.108 others(22): Show |
UQCC6 | ENSG00000204954.10 | transcript | ENST00000378090.9 | protein_coding | 2/2 | chr12 | TogoVar | |||||||
UQCRFS1_chr19_29200320_29218151 | 29200377 | A | ATTTTT | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(228): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(57): Show |
231 | 243 | 0.9506 | 5 | c.*71 others(16): Show |
UQCRFS1 | ENSG00000169021.6 | transcript | ENST00000304863.6 | protein_coding | 4942 | chr19 | TogoVar | |||||||
UQCRFS1_chr19_29200320_29218151 | 29218026 | G | GAAGAA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(414): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(85): Show |
417 | 434 | 0.9608 | 5 | c.-49 others(16): Show |
UQCRFS1 | ENSG00000169021.6 | transcript | ENST00000304863.6 | protein_coding | 4876 | chr19 | TogoVar | |||||||
UQCRQ_chr5_132861642_132873847 | 132869132 | G | GTTTTT | downstream_gene_variant | MODIFIER | HG03209.hp1 HG03942.hp1 HG04115.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 9 | 183 | 0.0492 | 5 | c.*15 others(16): Show |
UQCRQ | ENSG00000164405.11 | transcript | ENST00000378670.8 | protein_coding | 286 | chr5 | TogoVar | |||||||
URI1_chr19_29937239_30021612 | 29977585 | T | TGAGTG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(312): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(20): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(306): Show |
315 | 326 | 0.9663 | 5 | c.152 others(22): Show |
URI1 | ENSG00000105176.18 | transcript | ENST00000392271.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
URM1_chr9_128366374_128397016 | 128369938 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG02040.hp2 HG02071.hp2 HG02074.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 a0001c0001t0003g0025 a0001c0001t0003g0046 others(7): Show |
21 | 327 | 0.0642 | 5 | c.-14 others(16): Show |
URM1 | ENSG00000167118.11 | transcript | ENST00000372853.9 | protein_coding | 1435 | chr9 | TogoVar | |||||||
URM1_chr9_128366374_128397016 | 128371219 | G | GCCCTC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp2 others(104): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0089 a0001c0001t0002g0002 a0001c0001t0002g0008 others(51): Show |
107 | 284 | 0.3768 | 5 | c.-16 others(14): Show |
URM1 | ENSG00000167118.11 | transcript | ENST00000372853.9 | protein_coding | 154 | chr9 | TogoVar | |||||||
URM1_chr9_128366374_128397016 | 128376694 | T | TAATAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(162): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0072 a0001c0001t0001g0085 a0001c0001t0001g0089 others(81): Show |
165 | 342 | 0.4825 | 5 | c.36- others(20): Show |
URM1 | ENSG00000167118.11 | transcript | ENST00000372853.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
URM1_chr9_128366374_128397016 | 128379804 | A | AAAAAT | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG01099.hp1 others(68): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0017others(1): Show | a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0011 others(28): Show |
71 | 340 | 0.2088 | 5 | c.106 others(22): Show |
URM1 | ENSG00000167118.11 | transcript | ENST00000372853.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UROC1_chr3_126476166_126522773 | 126520847 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG01433.hp2 HG02083.hp2 HG03516.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0024 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0113 a0001c0001t0002g0007 a0001c0001t0002g0127 others(5): Show |
8 | 164 | 0.0488 | 5 | c.-31 others(16): Show |
UROC1 | ENSG00000159650.9 | transcript | ENST00000290868.7 | protein_coding | 3075 | chr3 | TogoVar | |||||||
USF2_chr19_35263962_35284821 | 35269042 | T | TCCCTC | 5_prime_UTR_variant | MODIFIER | HG01943.hp1 HG01975.hp2 HG01993.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0005 a0001c0001t0008g0065 |
8 | 419 | 0.0191 | 5 | c.-41 others(12): Show |
USF2 | ENSG00000105698.16 | transcript | ENST00000222305.8 | protein_coding | 1/10 | 36 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
USH2A_chr1_215617891_216428448 | 215622854 | A | ATTATT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG01069.hp2 HG01071.hp2 others(11): Show |
a0002a0004a0006others(10): Show | a0002c0071a0002c0072a0004c0069others(11): Show | a0002c0071t0001a0002c0072t0001a0004c0069t0001others(11): Show | a0002c0071t0001g0058 a0002c0072t0001g0050 a0004c0069t0001g0057 others(11): Show |
14 | 72 | 0.1944 | 5 | c.*29 others(16): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 36 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215659712 | T | TAGCTG | intron_variant | MODIFIER | HG02451.hp2 HG02896.hp1 HG03098.hp2 others(4): Show |
a0022a0036a0041others(4): Show | a0022c0057a0036c0053a0041c0049others(4): Show | a0022c0057t0001a0036c0053t0001a0041c0049t0001others(4): Show | a0022c0057t0001g0064 a0036c0053t0001g0061 a0041c0049t0001g0063 others(4): Show |
7 | 72 | 0.0972 | 5 | c.141 others(26): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 64/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215788915 | C | CCAAAA | intron_variant | MODIFIER | HG01081.hp2 HG01106.hp1 HG02055.hp1 others(9): Show |
a0008a0009a0017others(9): Show | a0008c0037a0009c0017a0017c0008others(9): Show | a0008c0037t0001a0009c0017t0002a0017c0008t0002others(9): Show | a0008c0037t0001g0033 a0009c0017t0002g0024 a0017c0008t0002g0021 others(9): Show |
12 | 21 | 0.5714 | 5 | c.101 others(26): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 51/71 | chr1 | TogoVar |