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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UNC79_chr14_93425939_93712876 | 93660520 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02723.hp1 others(5): Show |
a0001a0003a0013 | a0001c0001a0001c0011a0001c0016others(3): Show | a0001c0001t0001a0001c0011t0001a0001c0016t0001others(3): Show | a0001c0001t0001g0027 a0001c0011t0001g0128 a0001c0011t0001g0129 others(5): Show |
8 | 77 | 0.1039 | -10 | c.685 others(29): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 42/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UNC79_chr14_93425939_93712876 | 93660563 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG03453.hp1 HG03471.hp2 |
a0001a0011 | a0001c0019a0011c0032 | a0001c0019t0001a0011c0032t0001 | a0001c0019t0001g0171 a0011c0032t0001g0182 |
2 | 118 | 0.0169 | -10 | c.685 others(29): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 42/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209786980 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00609.hp1 others(32): Show |
a0001a0002a0007others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(13): Show | a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0063 others(32): Show |
35 | 40 | 0.8750 | -10 | c.724 others(25): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 5/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209866484 | GCACCCCC others(3): Show |
G | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0013 | a0001c0013t0002 | a0001c0013t0002g0183 | 1 | 161 | 0.0062 | -10 | c.362 others(29): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 22/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209931364 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp2 HG03139.hp1 others(4): Show |
a0001a0004 | a0001c0013a0001c0015a0001c0029others(2): Show | a0001c0013t0002a0001c0013t0010a0001c0015t0001others(3): Show | a0001c0013t0002g0183 a0001c0013t0010g0181 a0001c0015t0001g0018 others(4): Show |
7 | 46 | 0.1522 | -10 | c.599 others(27): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 38/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209938676 | GTCTCTCT others(3): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(23): Show |
a0001a0002a0009others(2): Show | a0001c0002a0001c0005a0001c0006others(14): Show | a0001c0002t0001a0001c0005t0007a0001c0006t0001others(16): Show | a0001c0002t0001g0110 a0001c0005t0007g0004 a0001c0006t0001g0001 others(23): Show |
26 | 52 | 0.5000 | -10 | c.646 others(27): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 42/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209955692 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01255.hp2 HG02109.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 others(3): Show |
6 | 96 | 0.0625 | -10 | c.745 others(29): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 48/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209955736 | TATACACA others(3): Show |
T | intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0065 | 1 | 173 | 0.0058 | -10 | c.745 others(29): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 48/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC93A_chr6_167286315_167321014 | 167286977 | CAAAAAAA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00642.hp2 HG01167.hp1 others(20): Show |
a0001a0002a0004others(5): Show | a0001c0001a0002c0002a0004c0004others(5): Show | a0001c0001t0001a0002c0002t0004a0004c0004t0003others(6): Show | a0001c0001t0001g0048 a0001c0001t0001g0277 a0002c0002t0004g0022 others(15): Show |
23 | 118 | 0.1949 | -10 | c.-45 others(21): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 4337 | chr6 | TogoVar | |||||||
UNC93A_chr6_167286315_167321014 | 167288449 | TACACACA others(3): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(71): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0013a0001c0023others(13): Show | a0001c0001t0001a0001c0001t0004a0001c0013t0001others(17): Show | a0001c0001t0001g0004 a0001c0001t0001g0046 a0001c0001t0001g0048 others(60): Show |
74 | 100 | 0.7400 | -10 | c.-30 others(21): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 2865 | chr6 | TogoVar | |||||||
UNC93B1_chr11_67986100_68009097 | 67987215 | GTAAAATA others(3): Show |
G | downstream_gene_variant | MODIFIER | HG00408.hp1 HG01433.hp1 HG02015.hp1 others(11): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0181 a0001c0002t0001g0019 others(8): Show |
14 | 192 | 0.0729 | -10 | c.*43 others(21): Show |
UNC93B1 | ENSG00000110057.9 | transcript | ENST00000227471.7 | protein_coding | 3884 | chr11 | TogoVar | |||||||
UNCX_chr7_1227872_1242326 | 1230215 | GGGGCGGG others(3): Show |
G | upstream_gene_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 404 | 0.0025 | -10 | c.-28 others(21): Show |
UNCX | ENSG00000164853.9 | transcript | ENST00000316333.9 | protein_coding | 2656 | chr7 | TogoVar | |||||||
UNG_chr12_109092597_109115992 | 109111020 | CCAGGCCA others(3): Show |
C | downstream_gene_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0186 | 1 | 450 | 0.0022 | -10 | c.*10 others(21): Show |
UNG | ENSG00000076248.12 | transcript | ENST00000242576.7 | protein_coding | 29 | chr12 | TogoVar | |||||||
UNG_chr12_109092597_109115992 | 109111877 | GGAAGGGT others(3): Show |
G | downstream_gene_variant | MODIFIER | HG01891.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0291 a0001c0001t0002g0292 |
2 | 450 | 0.0044 | -10 | c.*19 others(21): Show |
UNG | ENSG00000076248.12 | transcript | ENST00000242576.7 | protein_coding | 886 | chr12 | TogoVar | |||||||
UNKL_chr16_1358205_1419704 | 1413243 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG02451.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0017a0001c0001t0068a0001c0007t0027others(1): Show | a0001c0001t0017g0298 a0001c0001t0017g0300 a0001c0001t0068g0299 others(3): Show |
6 | 11 | 0.5455 | -10 | c.287 others(25): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 2/14 | chr16 | TogoVar | |||||||
UNKL_chr16_1358205_1419704 | 1414878 | CGCCCTGC others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02922.hp2 NA18906.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0021a0001c0001t0071 | a0001c0001t0002g0269 a0001c0001t0021g0306 a0001c0001t0021g0307 others(2): Show |
5 | 30 | 0.1667 | -10 | c.-19 others(19): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 175 | chr16 | TogoVar | |||||||
UNK_chr17_75779806_75830799 | 75782993 | TCAAAAAA others(3): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00735.hp2 others(42): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0188 a0001c0001t0003g0028 a0001c0001t0003g0031 others(41): Show |
45 | 173 | 0.2601 | -10 | c.-18 others(21): Show |
UNK | ENSG00000132478.10 | transcript | ENST00000589666.6 | protein_coding | 1812 | chr17 | TogoVar | |||||||
UNK_chr17_75779806_75830799 | 75802242 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02559.hp2 others(4): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0005a0001c0004t0001a0001c0004t0003 | a0001c0003t0005g0170 a0001c0004t0001g0323 a0001c0004t0003g0169 others(4): Show |
7 | 14 | 0.5000 | -10 | c.105 others(27): Show |
UNK | ENSG00000132478.10 | transcript | ENST00000589666.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
UNK_chr17_75779806_75830799 | 75803091 | TCTCTACT others(3): Show |
T | intron_variant | MODIFIER | HG03209.hp1 NA18993.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0132 a0001c0002t0001g0057 |
2 | 356 | 0.0056 | -10 | c.105 others(27): Show |
UNK | ENSG00000132478.10 | transcript | ENST00000589666.6 | protein_coding | 1/15 | chr17 | TogoVar | |||||||
UPB1_chr22_24490332_24533390 | 24496394 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0016 | 1 | 350 | 0.0029 | -10 | c.104 others(25): Show |
UPB1 | ENSG00000100024.15 | transcript | ENST00000326010.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
UPB1_chr22_24490332_24533390 | 24509361 | GAAAAAAA others(3): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0232 a0001c0001t0005g0017 |
2 | 59 | 0.0339 | -10 | c.365 others(27): Show |
UPB1 | ENSG00000100024.15 | transcript | ENST00000326010.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
UPF1_chr19_18826959_18873230 | 18829609 | ATATATAT others(3): Show |
A | upstream_gene_variant | MODIFIER | HG01167.hp2 NA18969.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0027 |
2 | 387 | 0.0052 | -10 | c.-26 others(21): Show |
UPF1 | ENSG00000005007.14 | transcript | ENST00000262803.10 | protein_coding | 2349 | chr19 | TogoVar | |||||||
UPF1_chr19_18826959_18873230 | 18829619 | GTATATAT others(3): Show |
G | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG01070.hp1 others(37): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(22): Show |
40 | 199 | 0.2010 | -10 | c.-25 others(21): Show |
UPF1 | ENSG00000005007.14 | transcript | ENST00000262803.10 | protein_coding | 2339 | chr19 | TogoVar | |||||||
UPF2_chr10_11915022_12047809 | 11938853 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0242 | 1 | 63 | 0.0159 | -10 | c.337 others(29): Show |
UPF2 | ENSG00000151461.20 | transcript | ENST00000357604.10 | protein_coding | 18/21 | chr10 | TogoVar | |||||||
UPF2_chr10_11915022_12047809 | 11990435 | AAAAGGGT others(3): Show |
A | intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154 | 1 | 332 | 0.0030 | -10 | c.184 others(29): Show |
UPF2 | ENSG00000151461.20 | transcript | ENST00000357604.10 | protein_coding | 8/21 | chr10 | TogoVar | |||||||
UPF3B_chrX_119829022_119857963 | 119842595 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02486.hp1 HG02559.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 a0001c0001t0002g0120 a0001c0001t0002g0125 others(1): Show |
6 | 280 | 0.0214 | -10 | c.580 others(25): Show |
UPF3B | ENSG00000125351.14 | transcript | ENST00000276201.7 | protein_coding | 5/10 | chrX | TogoVar | |||||||
UPK1A_chr19_35661517_35683481 | 35666418 | AACACACA others(3): Show |
A | upstream_gene_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 275 | 0.0036 | -10 | c.-12 others(19): Show |
UPK1A | ENSG00000105668.8 | transcript | ENST00000222275.3 | protein_coding | 98 | chr19 | TogoVar | |||||||
UPK1A_chr19_35661517_35683481 | 35667306 | TTTTTGTT others(3): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG00733.hp2 HG00738.hp1 others(41): Show |
a0001a0005a0008others(1): Show | a0001c0001a0005c0007a0008c0014others(1): Show | a0001c0001t0001a0001c0001t0002a0005c0007t0001others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0025 others(25): Show |
44 | 168 | 0.2619 | -10 | c.84+ others(23): Show |
UPK1A | ENSG00000105668.8 | transcript | ENST00000222275.3 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UPK1B_chr3_119168598_119210143 | 119175007 | ATTTTCTT others(3): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp1 HG02886.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0079 a0001c0001t0001g0203 a0001c0001t0003g0204 others(2): Show |
5 | 420 | 0.0119 | -10 | c.-29 others(27): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UPK1B_chr3_119168598_119210143 | 119175012 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00597.hp2 others(50): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 others(46): Show |
53 | 64 | 0.8281 | -10 | c.-29 others(27): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UPK1B_chr3_119168598_119210143 | 119179352 | GATATATA others(3): Show |
G | intron_variant | MODIFIER | HG03209.hp1 NA18522.hp1 NA18906.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0079 a0001c0001t0001g0176 a0002c0002t0001g0055 |
3 | 208 | 0.0144 | -10 | c.-29 others(27): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UPK1B_chr3_119168598_119210143 | 119179389 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 420 | 0.0024 | -10 | c.-29 others(27): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
UPK1B_chr3_119168598_119210143 | 119179805 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG00733.hp1 others(46): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0012 a0001c0001t0001g0137 a0001c0001t0001g0138 others(43): Show |
49 | 75 | 0.6533 | -10 | c.-29 others(27): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UPK3BL2_chr7_102532919_102548696 | 102544127 | CAAAAAAA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp1 HG01071.hp2 HG02132.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0007 |
7 | 9 | 0.7778 | -10 | c.-50 others(19): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 432 | chr7 | TogoVar | |||||||
UPK3BL2_chr7_102532919_102548696 | 102547901 | CTTTTTTT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG01169.hp2 HG02109.hp1 NA18980.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 45 | 0.0667 | -10 | c.-42 others(21): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 4206 | chr7 | TogoVar | |||||||
UPP1_chr7_48084265_48113736 | 48087859 | TTTTTTTT others(3): Show |
T | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG02258.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0010 a0001c0001t0003g0117 a0001c0002t0003g0018 others(1): Show |
12 | 426 | 0.0282 | -10 | c.-17 others(21): Show |
UPP1 | ENSG00000183696.14 | transcript | ENST00000395564.9 | protein_coding | 1405 | chr7 | TogoVar | |||||||
UPP2_chr2_158096876_158141154 | 158104917 | AAAGGGAA others(3): Show |
A | intron_variant | MODIFIER | HG02818.hp1 HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0080 |
3 | 223 | 0.0135 | -10 | c.63- others(25): Show |
UPP2 | ENSG00000007001.13 | transcript | ENST00000005756.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UPP2_chr2_158096876_158141154 | 158104971 | GGAAGGGA others(3): Show |
G | intron_variant | MODIFIER | HG02647.hp1 HG03486.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0004 | a0001c0001t0001g0115 a0002c0002t0004g0075 |
2 | 335 | 0.0060 | -10 | c.63- others(25): Show |
UPP2 | ENSG00000007001.13 | transcript | ENST00000005756.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UPP2_chr2_158096876_158141154 | 158104989 | AGGGAAGG others(3): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0002 | a0002c0002t0017 | a0002c0002t0017g0076 | 1 | 327 | 0.0031 | -10 | c.63- others(25): Show |
UPP2 | ENSG00000007001.13 | transcript | ENST00000005756.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UPP2_chr2_158096876_158141154 | 158104994 | AGGGAGGG others(3): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG02258.hp2 HG02280.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0158 others(10): Show |
16 | 186 | 0.0860 | -10 | c.63- others(25): Show |
UPP2 | ENSG00000007001.13 | transcript | ENST00000005756.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UQCC1_chr20_35297578_35416973 | 35321252 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG01081.hp1 HG01175.hp1 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0108 others(23): Show |
26 | 75 | 0.3467 | -10 | c.574 others(27): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 7/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35321275 | TGTGTGTG others(3): Show |
T | intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0153 | 1 | 254 | 0.0039 | -10 | c.574 others(27): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 7/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35348371 | TTTTTGTT others(3): Show |
T | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 140 | 0.0071 | -10 | c.465 others(27): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 6/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35396284 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02723.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0238 a0001c0001t0002g0241 |
2 | 135 | 0.0148 | -10 | c.25- others(25): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35412617 | CAAAAAAA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG00597.hp2 HG01975.hp1 HG01993.hp1 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0012 a0002c0002t0001g0017 a0002c0002t0001g0021 others(8): Show |
11 | 75 | 0.1467 | -10 | c.-66 others(19): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 645 | chr20 | TogoVar | |||||||
UQCC4_chr16_1414752_1425747 | 1414878 | CGCCCTGC others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02080.hp2 HG02257.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 6 | 33 | 0.1818 | -10 | c.*53 others(21): Show |
UQCC4 | ENSG00000174109.5 | transcript | ENST00000442039.3 | protein_coding | 4873 | chr16 | TogoVar | |||||||
UQCR11_chr19_1592169_1610462 | 1600209 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 312 | 0.0032 | -10 | c.51- others(23): Show |
UQCR11 | ENSG00000127540.12 | transcript | ENST00000591899.8 | protein_coding | 1/2 | chr19 | TogoVar | |||||||
UQCR11_chr19_1592169_1610462 | 1605252 | GGGCCCGG others(3): Show |
G | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 362 | 0.0028 | -10 | c.50+ others(22): Show |
UQCR11 | ENSG00000127540.12 | transcript | ENST00000591899.8 | protein_coding | 1/2 | chr19 | TogoVar | |||||||
UQCRC2_chr16_21948361_21988660 | 21961626 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG01346.hp1 HG02055.hp2 HG02451.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0071 others(3): Show |
6 | 23 | 0.2609 | -10 | c.333 others(25): Show |
UQCRC2 | ENSG00000140740.11 | transcript | ENST00000268379.9 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
URAD_chr13_27972717_27993693 | 27981020 | CTCTCTCT others(3): Show |
C | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0125 | 1 | 426 | 0.0023 | -10 | c.176 others(27): Show |
URAD | ENSG00000183463.7 | transcript | ENST00000332715.6 | protein_coding | 1/1 | chr13 | TogoVar |