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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UNC80_chr2_209766832_210004296 | 209995976 | CATT | C | 3_prime_UTR_variant | MODIFIER | HG01891.hp2 HG02976.hp1 HG03209.hp2 |
a0001a0014 | a0001c0010a0014c0028 | a0001c0010t0008a0014c0028t0008 | a0001c0010t0008g0026 a0001c0010t0008g0027 a0014c0028t0008g0037 |
3 | 186 | 0.0161 | -3 | c.*38 others(12): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 65/65 | 384 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UNC93A_chr6_167286315_167321014 | 167286977 | CAAA | C | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00733.hp1 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0005others(4): Show | a0001c0001t0001g0215 a0001c0001t0002g0341 a0001c0001t0002g0342 others(13): Show |
19 | 114 | 0.1667 | -3 | c.-45 others(14): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 4337 | chr6 | TogoVar | |||||||
UNC93A_chr6_167286315_167321014 | 167299128 | AAAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0004a0003c0003t0003others(4): Show | a0001c0001t0001g0021 a0001c0001t0001g0073 a0001c0001t0001g0074 others(14): Show |
21 | 446 | 0.0471 | -3 | c.625 others(20): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
UNCX_chr7_1227872_1242326 | 1232240 | CCCT | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(396): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(97): Show |
399 | 404 | 0.9876 | -3 | c.-77 others(12): Show |
UNCX | ENSG00000164853.9 | transcript | ENST00000316333.9 | protein_coding | 631 | chr7 | TogoVar | |||||||
UNCX_chr7_1227872_1242326 | 1234750 | CAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(207): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(37): Show |
210 | 219 | 0.9589 | -3 | c.451 others(20): Show |
UNCX | ENSG00000164853.9 | transcript | ENST00000316333.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UNG_chr12_109092597_109115992 | 109095452 | AAAT | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(215): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(134): Show |
218 | 450 | 0.4844 | -3 | c.-22 others(14): Show |
UNG | ENSG00000076248.12 | transcript | ENST00000242576.7 | protein_coding | 2144 | chr12 | TogoVar | |||||||
UNG_chr12_109092597_109115992 | 109101106 | CTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00544.hp2 others(79): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0014 others(36): Show |
82 | 104 | 0.7885 | -3 | c.436 others(18): Show |
UNG | ENSG00000076248.12 | transcript | ENST00000242576.7 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
UNG_chr12_109092597_109115992 | 109112329 | TGTG | T | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01168.hp1 HG01169.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009 a0001c0001t0003g0069 a0001c0001t0003g0070 |
7 | 450 | 0.0156 | -3 | c.*23 others(14): Show |
UNG | ENSG00000076248.12 | transcript | ENST00000242576.7 | protein_coding | 1338 | chr12 | TogoVar | |||||||
UNG_chr12_109092597_109115992 | 109112688 | CAAA | C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG01074.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0011 a0001c0001t0001g0258 a0001c0001t0001g0275 others(9): Show |
15 | 167 | 0.0898 | -3 | c.*27 others(14): Show |
UNG | ENSG00000076248.12 | transcript | ENST00000242576.7 | protein_coding | 1697 | chr12 | TogoVar | |||||||
UNKL_chr16_1358205_1419704 | 1369055 | GTTT | G | intron_variant | MODIFIER | HG02027.hp1 HG02257.hp1 HG02922.hp2 others(4): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0015a0001c0001t0021others(3): Show | a0001c0001t0001g0129 a0001c0001t0015g0088 a0001c0001t0021g0307 others(4): Show |
7 | 65 | 0.1077 | -3 | c.158 others(22): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 12/14 | chr16 | TogoVar | |||||||
UNKL_chr16_1358205_1419704 | 1371082 | CAAA | C | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG02523.hp2 others(8): Show |
a0001a0002a0010 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0015a0001c0001t0016a0001c0001t0020others(4): Show | a0001c0001t0015g0088 a0001c0001t0015g0155 a0001c0001t0015g0157 others(8): Show |
11 | 267 | 0.0412 | -3 | c.135 others(20): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 11/14 | chr16 | TogoVar | |||||||
UNKL_chr16_1358205_1419704 | 1397606 | CCCG | C | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp1 HG02027.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(2): Show | a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0106 others(9): Show |
12 | 320 | 0.0375 | -3 | c.735 others(18): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 5/14 | chr16 | TogoVar | |||||||
UNKL_chr16_1358205_1419704 | 1397693 | CCCG | C | intron_variant | MODIFIER | HG00621.hp2 HG01109.hp2 HG02257.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0059a0001c0001t0064 | a0001c0001t0001g0158 a0001c0001t0001g0268 a0001c0001t0059g0296 others(1): Show |
4 | 320 | 0.0125 | -3 | c.735 others(18): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 5/14 | chr16 | TogoVar | |||||||
UNKL_chr16_1358205_1419704 | 1400417 | CAAA | C | intron_variant | MODIFIER | HG02135.hp1 HG04184.hp2 HG04204.hp2 others(10): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0148 a0001c0001t0001g0294 a0001c0003t0001g0080 others(10): Show |
13 | 14 | 0.9286 | -3 | c.599 others(18): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 4/14 | chr16 | TogoVar | |||||||
UNKL_chr16_1358205_1419704 | 1402271 | AAGC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(299): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0005others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(90): Show | a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0034 others(298): Show |
302 | 320 | 0.9438 | -3 | c.465 others(18): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 3/14 | chr16 | TogoVar | |||||||
UNK_chr17_75779806_75830799 | 75782159 | CTTT | C | upstream_gene_variant | MODIFIER | HG01175.hp1 HG01952.hp2 HG02055.hp1 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0007 | a0001c0003t0004g0087 a0001c0003t0004g0090 a0001c0003t0004g0235 others(4): Show |
7 | 301 | 0.0233 | -3 | c.-27 others(14): Show |
UNK | ENSG00000132478.10 | transcript | ENST00000589666.6 | protein_coding | 2646 | chr17 | TogoVar | |||||||
UNK_chr17_75779806_75830799 | 75782993 | TCAA | T | upstream_gene_variant | MODIFIER | HG02976.hp2 NA18984.hp2 NA19081.hp1 |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0004 | a0001c0003t0002g0241 a0001c0003t0002g0264 a0001c0003t0004g0168 |
3 | 131 | 0.0229 | -3 | c.-18 others(14): Show |
UNK | ENSG00000132478.10 | transcript | ENST00000589666.6 | protein_coding | 1812 | chr17 | TogoVar | |||||||
UNK_chr17_75779806_75830799 | 75812005 | AAAC | A | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG00639.hp1 others(98): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0004others(11): Show | a0001c0001t0001g0063 a0001c0001t0001g0167 a0001c0003t0002g0004 others(93): Show |
101 | 356 | 0.2837 | -3 | c.315 others(16): Show |
UNK | ENSG00000132478.10 | transcript | ENST00000589666.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
UPB1_chr22_24490332_24533390 | 24492961 | TAAC | T | upstream_gene_variant | MODIFIER | HG00438.hp2 HG01070.hp1 HG01167.hp2 others(56): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0029 a0001c0001t0001g0212 a0001c0001t0001g0213 others(48): Show |
59 | 222 | 0.2658 | -3 | c.-24 others(14): Show |
UPB1 | ENSG00000100024.15 | transcript | ENST00000326010.10 | protein_coding | 2370 | chr22 | TogoVar | |||||||
UPB1_chr22_24490332_24533390 | 24527801 | TAAA | T | 3_prime_UTR_variant | MODIFIER | HG02055.hp1 HG02572.hp1 HG02809.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0010a0001c0001t0028a0003c0004t0036 | a0001c0001t0010g0048 a0001c0001t0010g0051 a0001c0001t0010g0053 others(3): Show |
6 | 268 | 0.0224 | -3 | c.*20 others(14): Show |
UPB1 | ENSG00000100024.15 | transcript | ENST00000326010.10 | protein_coding | 10/10 | 2023 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
UPB1_chr22_24490332_24533390 | 24529991 | AAAC | A | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02630.hp1 HG02738.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0023others(2): Show | a0001c0001t0002g0217 a0001c0001t0009g0226 a0001c0001t0009g0227 others(3): Show |
6 | 350 | 0.0171 | -3 | c.*41 others(14): Show |
UPB1 | ENSG00000100024.15 | transcript | ENST00000326010.10 | protein_coding | 1602 | chr22 | TogoVar | |||||||
UPB1_chr22_24490332_24533390 | 24533083 | CTTT | C | downstream_gene_variant | MODIFIER | HG01070.hp1 HG01109.hp1 HG02055.hp1 others(12): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0005a0001c0001t0008a0001c0001t0010others(6): Show | a0001c0001t0005g0163 a0001c0001t0008g0015 a0001c0001t0008g0034 others(11): Show |
15 | 195 | 0.0769 | -3 | c.*72 others(14): Show |
UPB1 | ENSG00000100024.15 | transcript | ENST00000326010.10 | protein_coding | 4694 | chr22 | TogoVar | |||||||
UPF1_chr19_18826959_18873230 | 18869822 | TGAC | T | downstream_gene_variant | MODIFIER | HG02615.hp2 NA18522.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | 392 | 0.0077 | -3 | c.*33 others(14): Show |
UPF1 | ENSG00000005007.14 | transcript | ENST00000262803.10 | protein_coding | 1593 | chr19 | TogoVar | |||||||
UPF1_chr19_18826959_18873230 | 18871223 | ATTT | A | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG01123.hp2 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0017 others(35): Show |
42 | 99 | 0.4242 | -3 | c.*47 others(14): Show |
UPF1 | ENSG00000005007.14 | transcript | ENST00000262803.10 | protein_coding | 2994 | chr19 | TogoVar | |||||||
UPF1_chr19_18826959_18873230 | 18873072 | TGAG | T | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01346.hp2 HG01981.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 others(5): Show |
19 | 392 | 0.0485 | -3 | c.*65 others(14): Show |
UPF1 | ENSG00000005007.14 | transcript | ENST00000262803.10 | protein_coding | 4843 | chr19 | TogoVar | |||||||
UPF2_chr10_11915022_12047809 | 11915372 | CAAA | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00621.hp2 HG00639.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0002g0023 a0001c0001t0002g0039 a0001c0001t0002g0066 others(13): Show |
16 | 34 | 0.4706 | -3 | c.*59 others(14): Show |
UPF2 | ENSG00000151461.20 | transcript | ENST00000357604.10 | protein_coding | 4649 | chr10 | TogoVar | |||||||
UPF2_chr10_11915022_12047809 | 11931475 | ATAT | A | intron_variant | MODIFIER | HG01167.hp2 HG02723.hp2 HG02922.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0011 | a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 others(6): Show |
9 | 332 | 0.0271 | -3 | c.368 others(20): Show |
UPF2 | ENSG00000151461.20 | transcript | ENST00000357604.10 | protein_coding | 20/21 | chr10 | TogoVar | |||||||
UPF2_chr10_11915022_12047809 | 11946578 | ACTG | A | intron_variant | MODIFIER | HG02970.hp2 HG03139.hp2 NA19030.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0114 a0001c0004t0007g0115 a0001c0004t0007g0116 others(1): Show |
4 | 332 | 0.0120 | -3 | c.317 others(22): Show |
UPF2 | ENSG00000151461.20 | transcript | ENST00000357604.10 | protein_coding | 16/21 | chr10 | TogoVar | |||||||
UPF2_chr10_11915022_12047809 | 12003830 | CAGG | C | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00438.hp2 others(100): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0009a0001c0002t0001a0001c0002t0009others(3): Show | a0001c0001t0009g0050 a0001c0002t0001g0112 a0001c0002t0001g0113 others(100): Show |
103 | 332 | 0.3102 | -3 | c.150 others(20): Show |
UPF2 | ENSG00000151461.20 | transcript | ENST00000357604.10 | protein_coding | 5/21 | chr10 | TogoVar | |||||||
UPF2_chr10_11915022_12047809 | 12007834 | GTAA | G | intron_variant | MODIFIER | HG02280.hp2 NA18947.hp1 NA18954.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0016others(1): Show | a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 others(4): Show |
7 | 151 | 0.0464 | -3 | c.130 others(22): Show |
UPF2 | ENSG00000151461.20 | transcript | ENST00000357604.10 | protein_coding | 4/21 | chr10 | TogoVar | |||||||
UPF3A_chr13_114276601_114310817 | 114284789 | AGTC | A | intron_variant | MODIFIER | HG02258.hp2 HG03139.hp2 HG03579.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014 | 3 | 448 | 0.0067 | -3 | c.422 others(20): Show |
UPF3A | ENSG00000169062.15 | transcript | ENST00000375299.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UPF3A_chr13_114276601_114310817 | 114291661 | CGGA | C | disruptive_inframe_deletion | MODERATE | NA18951.hp1 NA19062.hp2 NA19082.hp2 |
a0007a0013 | a0007c0005a0013c0011 | a0007c0005t0001a0013c0011t0001 | a0007c0005t0001g0192 a0007c0005t0001g0205 a0013c0011t0001g0253 |
3 | 448 | 0.0067 | -3 | c.723 others(10): Show |
p.Arg others(6): Show |
UPF3A | ENSG00000169062.15 | transcript | ENST00000375299.8 | protein_coding | 7/10 | 762/2370 | 723/1431 | 241/476 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||
UPF3A_chr13_114276601_114310817 | 114304995 | AAGG | A | 3_prime_UTR_variant | MODIFIER | HG01496.hp2 HG02109.hp2 HG02572.hp2 others(4): Show |
a0004a0005 | a0004c0004a0005c0006 | a0004c0004t0003a0005c0006t0006 | a0004c0004t0003g0116 a0004c0004t0003g0187 a0004c0004t0003g0188 others(4): Show |
7 | 448 | 0.0156 | -3 | c.*81 others(10): Show |
UPF3A | ENSG00000169062.15 | transcript | ENST00000375299.8 | protein_coding | 10/10 | 81 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
UPF3B_chrX_119829022_119857963 | 119846505 | TAAA | T | intron_variant | MODIFIER | HG02280.hp1 HG02486.hp1 HG02559.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 a0001c0001t0002g0049 a0001c0001t0002g0054 others(4): Show |
9 | 186 | 0.0484 | -3 | c.371 others(20): Show |
UPF3B | ENSG00000125351.14 | transcript | ENST00000276201.7 | protein_coding | 3/10 | chrX | TogoVar | |||||||
UPF3B_chrX_119829022_119857963 | 119851325 | ATAG | A | intron_variant | MODIFIER | HG00639.hp1 HG01106.hp1 HG01243.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0127 others(11): Show |
16 | 280 | 0.0571 | -3 | c.370 others(18): Show |
UPF3B | ENSG00000125351.14 | transcript | ENST00000276201.7 | protein_coding | 3/10 | chrX | TogoVar | |||||||
UPK1A_chr19_35661517_35683481 | 35681559 | ATTT | A | downstream_gene_variant | MODIFIER | HG00597.hp1 HG01106.hp2 HG01256.hp2 others(33): Show |
a0001a0003a0004 | a0001c0001a0001c0009a0003c0004others(1): Show | a0001c0001t0001a0001c0009t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0044 a0001c0001t0001g0052 others(27): Show |
36 | 270 | 0.1333 | -3 | c.*35 others(14): Show |
UPK1A | ENSG00000105668.8 | transcript | ENST00000222275.3 | protein_coding | 3079 | chr19 | TogoVar | |||||||
UPK1B_chr3_119168598_119210143 | 119174535 | CAGG | C | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG01433.hp1 others(30): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(26): Show |
33 | 420 | 0.0786 | -3 | c.-29 others(18): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UPK1B_chr3_119168598_119210143 | 119175012 | CTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00639.hp1 others(59): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(2): Show | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 others(56): Show |
62 | 73 | 0.8493 | -3 | c.-29 others(20): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UPK1B_chr3_119168598_119210143 | 119179398 | TTAA | T | intron_variant | MODIFIER | HG01496.hp1 HG01891.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 |
3 | 412 | 0.0073 | -3 | c.-29 others(20): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UPK1B_chr3_119168598_119210143 | 119179805 | CTTT | C | intron_variant | MODIFIER | HG01978.hp2 HG02615.hp1 NA18963.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0007 a0001c0001t0001g0040 a0001c0001t0001g0191 others(3): Show |
7 | 33 | 0.2121 | -3 | c.-29 others(20): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UPK1B_chr3_119168598_119210143 | 119203340 | CAAA | C | intron_variant | MODIFIER | HG02083.hp2 HG02129.hp1 NA18943.hp2 others(18): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0003a0003c0003t0004 | a0003c0003t0002g0349 a0003c0003t0003g0026 a0003c0003t0003g0060 others(17): Show |
21 | 156 | 0.1346 | -3 | c.733 others(18): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UPK1B_chr3_119168598_119210143 | 119206026 | TCCC | T | downstream_gene_variant | MODIFIER | HG02083.hp2 HG02129.hp1 NA18943.hp2 others(23): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0003a0003c0003t0004 | a0003c0003t0002g0349 a0003c0003t0003g0026 a0003c0003t0003g0060 others(22): Show |
26 | 388 | 0.0670 | -3 | c.*20 others(14): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 884 | chr3 | TogoVar | |||||||
UPK3A_chr22_45279949_45300874 | 45282008 | CAAA | C | upstream_gene_variant | MODIFIER | HG01993.hp2 HG02615.hp2 HG02717.hp2 others(5): Show |
a0001a0003 | a0001c0005a0003c0009 | a0001c0005t0001a0003c0009t0001 | a0001c0005t0001g0069 a0003c0009t0001g0116 a0003c0009t0001g0117 others(5): Show |
8 | 92 | 0.0870 | -3 | c.-30 others(14): Show |
UPK3A | ENSG00000100373.10 | transcript | ENST00000216211.9 | protein_coding | 2940 | chr22 | TogoVar | |||||||
UPK3BL1_chr7_102632025_102647791 | 102636361 | CAAA | C | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02886.hp2 NA18966.hp2 others(2): Show |
a0001a0003a0006 | a0001c0003a0003c0004a0006c0011 | a0001c0003t0017a0003c0004t0009a0006c0011t0019 | a0001c0003t0017g0037 a0003c0004t0009g0078 a0003c0004t0009g0080 others(2): Show |
5 | 45 | 0.1111 | -3 | c.*11 others(14): Show |
UPK3BL1 | ENSG00000267368.1 | transcript | ENST00000340457.8 | protein_coding | 663 | chr7 | TogoVar | |||||||
UPK3BL1_chr7_102632025_102647791 | 102638511 | ACCT | A | intron_variant | MODIFIER | HG02015.hp2 NA18946.hp1 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0082 |
3 | 140 | 0.0214 | -3 | c.683 others(18): Show |
UPK3BL1 | ENSG00000267368.1 | transcript | ENST00000340457.8 | protein_coding | 5/5 | chr7 | TogoVar | |||||||
UPK3BL1_chr7_102632025_102647791 | 102643242 | AAAC | A | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01175.hp1 NA18951.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0002g0039 others(3): Show |
6 | 140 | 0.0429 | -3 | c.-50 others(12): Show |
UPK3BL1 | ENSG00000267368.1 | transcript | ENST00000340457.8 | protein_coding | 452 | chr7 | TogoVar | |||||||
UPK3BL2_chr7_102532919_102548696 | 102544127 | CAAA | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG01517.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0002g0003 |
11 | 13 | 0.8462 | -3 | c.-49 others(12): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 432 | chr7 | TogoVar | |||||||
UPK3B_chr7_76505552_76521522 | 76515022 | TTCC | T | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02145.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0046 others(1): Show |
12 | 338 | 0.0355 | -3 | c.672 others(16): Show |
UPK3B | ENSG00000243566.7 | transcript | ENST00000334348.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UPP1_chr7_48084265_48113736 | 48096570 | TTTC | T | intron_variant | MODIFIER | HG00639.hp2 HG01891.hp2 HG02257.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002a0001c0002t0003 | a0001c0001t0002g0113 a0001c0002t0002g0017 a0001c0002t0002g0112 others(2): Show |
11 | 426 | 0.0258 | -3 | c.44+ others(18): Show |
UPP1 | ENSG00000183696.14 | transcript | ENST00000395564.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UPP2_chr2_158096876_158141154 | 158139672 | TGGA | T | 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 | -3 | c.*47 others(14): Show |
UPP2 | ENSG00000007001.13 | transcript | ENST00000005756.5 | protein_coding | 3519 | chr2 | TogoVar |