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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UBASH3B_chr11_122650722_122819473 | 122699531 | CTCTTTCT others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01099.hp1 HG01106.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0011a0001c0001t0023a0001c0002t0002others(5): Show | a0001c0001t0011g0056 a0001c0001t0023g0053 a0001c0002t0002g0052 others(6): Show |
9 | 137 | 0.0657 | -12 | c.161 others(31): Show |
UBASH3B | ENSG00000154127.10 | transcript | ENST00000284273.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
UBASH3B_chr11_122650722_122819473 | 122771748 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02622.hp1 HG02630.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0001t0016a0001c0001t0020others(1): Show | a0001c0001t0012g0255 a0001c0001t0016g0256 a0001c0001t0020g0020 others(2): Show |
5 | 63 | 0.0794 | -12 | c.162 others(29): Show |
UBASH3B | ENSG00000154127.10 | transcript | ENST00000284273.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
UBB_chr17_16376091_16387740 | 16376672 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 350 | 0.0029 | -12 | c.-45 others(23): Show |
UBB | ENSG00000170315.14 | transcript | ENST00000302182.8 | protein_coding | 4418 | chr17 | TogoVar | |||||||
UBC_chr12_124906646_124919650 | 124911463 | CAAGCTGG others(5): Show |
C | downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 444 | 0.0023 | -12 | c.*23 others(21): Show |
UBC | ENSG00000150991.16 | transcript | ENST00000339647.6 | protein_coding | 182 | chr12 | TogoVar | |||||||
UBE2A_chrX_119569563_119589423 | 119579789 | CCATGTGC others(5): Show |
C | intron_variant | MODIFIER | HG01071.hp2 HG01257.hp2 HG01346.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004 a0001c0001t0001g0024 a0001c0001t0001g0049 others(5): Show |
31 | 331 | 0.0937 | -12 | c.152 others(29): Show |
UBE2A | ENSG00000077721.17 | transcript | ENST00000371558.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
UBE2B_chr5_134366569_134397108 | 134371473 | TCGGCGGC others(5): Show |
T | upstream_gene_variant | MODIFIER | HG03195.hp1 NA18942.hp1 NA18991.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0020 a0001c0001t0001g0056 a0001c0001t0002g0179 |
3 | 229 | 0.0131 | -12 | c.-12 others(21): Show |
UBE2B | ENSG00000119048.9 | transcript | ENST00000265339.7 | protein_coding | 95 | chr5 | TogoVar | |||||||
UBE2C_chr20_45807644_45821952 | 45814271 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(151): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(14): Show |
154 | 234 | 0.6581 | -12 | c.130 others(25): Show |
UBE2C | ENSG00000175063.17 | transcript | ENST00000356455.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
UBE2D2_chr5_139556339_139633434 | 139590782 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03471.hp1 HG03516.hp2 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0126 |
3 | 113 | 0.0265 | -12 | c.25- others(27): Show |
UBE2D2 | ENSG00000131508.17 | transcript | ENST00000398733.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
UBE2D2_chr5_139556339_139633434 | 139614061 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 89 | 0.0112 | -12 | c.89- others(25): Show |
UBE2D2 | ENSG00000131508.17 | transcript | ENST00000398733.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
UBE2D4_chr7_43921436_43961136 | 43943998 | CCCCAGGA others(5): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG01361.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0017a0001c0001t0025 | a0001c0001t0012g0026 a0001c0001t0012g0027 a0001c0001t0012g0028 others(9): Show |
13 | 386 | 0.0337 | -12 | c.198 others(27): Show |
UBE2D4 | ENSG00000078967.13 | transcript | ENST00000222402.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UBE2E1_chr3_23800955_23896640 | 23869351 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00423.hp2 others(124): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(117): Show |
127 | 228 | 0.5570 | -12 | c.204 others(31): Show |
UBE2E1 | ENSG00000170142.12 | transcript | ENST00000306627.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UBE2E2_chr3_23198327_23596794 | 23284507 | CATTATTA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0001g0280 a0001c0001t0001g0319 a0001c0001t0004g0256 others(47): Show |
50 | 336 | 0.1488 | -12 | c.227 others(31): Show |
UBE2E2 | ENSG00000182247.11 | transcript | ENST00000396703.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UBE2E2_chr3_23198327_23596794 | 23441395 | TGGGCATG others(5): Show |
T | intron_variant | MODIFIER | HG02809.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0218 a0001c0001t0008g0140 |
2 | 336 | 0.0060 | -12 | c.228 others(31): Show |
UBE2E2 | ENSG00000182247.11 | transcript | ENST00000396703.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UBE2E2_chr3_23198327_23596794 | 23466550 | GTTTTGTT others(5): Show |
G | intron_variant | MODIFIER | HG02738.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0022 | a0001c0001t0002g0142 a0001c0001t0022g0143 |
2 | 243 | 0.0082 | -12 | c.228 others(31): Show |
UBE2E2 | ENSG00000182247.11 | transcript | ENST00000396703.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UBE2E2_chr3_23198327_23596794 | 23505072 | ATTTTTGT others(5): Show |
A | intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0202 | 1 | 336 | 0.0030 | -12 | c.360 others(29): Show |
UBE2E2 | ENSG00000182247.11 | transcript | ENST00000396703.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UBE2F_chr2_237962014_238047782 | 237965487 | AAACACAA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00597.hp1 HG01255.hp1 HG01257.hp2 others(43): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(39): Show |
46 | 366 | 0.1257 | -12 | c.-16 others(23): Show |
UBE2F | ENSG00000184182.19 | transcript | ENST00000272930.9 | protein_coding | 1526 | chr2 | TogoVar | |||||||
UBE2G1_chr17_4264259_4371675 | 4284834 | CTTTCTTT others(5): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0137 a0001c0001t0005g0138 |
2 | 35 | 0.0571 | -12 | c.427 others(29): Show |
UBE2G1 | ENSG00000132388.13 | transcript | ENST00000396981.7 | protein_coding | 4/5 | chr17 | TogoVar | |||||||
UBE2G2_chr21_44763580_44806820 | 44795639 | AAAAGAAA others(5): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0058 | 1 | 360 | 0.0028 | -12 | c.43+ others(27): Show |
UBE2G2 | ENSG00000184787.19 | transcript | ENST00000345496.7 | protein_coding | 1/5 | chr21 | TogoVar | |||||||
UBE2H_chr7_129825732_129957960 | 129846346 | AAATAATA others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(191): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0055 a0001c0001t0001g0079 a0001c0001t0001g0081 others(191): Show |
194 | 206 | 0.9417 | -12 | c.299 others(29): Show |
UBE2H | ENSG00000186591.13 | transcript | ENST00000355621.8 | protein_coding | 5/6 | chr7 | TogoVar | |||||||
UBE2H_chr7_129825732_129957960 | 129850909 | AAGAAGAG others(5): Show |
A | intron_variant | MODIFIER | HG02165.hp1 NA18952.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014 | a0001c0001t0004g0261 a0001c0001t0014g0059 |
2 | 288 | 0.0069 | -12 | c.298 others(29): Show |
UBE2H | ENSG00000186591.13 | transcript | ENST00000355621.8 | protein_coding | 5/6 | chr7 | TogoVar | |||||||
UBE2H_chr7_129825732_129957960 | 129933632 | TGACATCC others(5): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00558.hp1 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 others(45): Show |
48 | 288 | 0.1667 | -12 | c.53+ others(29): Show |
UBE2H | ENSG00000186591.13 | transcript | ENST00000355621.8 | protein_coding | 1/6 | chr7 | TogoVar | |||||||
UBE2H_chr7_129825732_129957960 | 129936804 | GAAAAAAA others(5): Show |
G | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 254 | 0.0039 | -12 | c.53+ others(29): Show |
UBE2H | ENSG00000186591.13 | transcript | ENST00000355621.8 | protein_coding | 1/6 | chr7 | TogoVar | |||||||
UBE2H_chr7_129825732_129957960 | 129944715 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG01993.hp1 NA18954.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 a0001c0001t0001g0189 |
2 | 72 | 0.0278 | -12 | c.53+ others(27): Show |
UBE2H | ENSG00000186591.13 | transcript | ENST00000355621.8 | protein_coding | 1/6 | chr7 | TogoVar | |||||||
UBE2H_chr7_129825732_129957960 | 129944740 | ACACACAC others(5): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 a0001c0001t0002g0174 |
2 | 288 | 0.0069 | -12 | c.53+ others(27): Show |
UBE2H | ENSG00000186591.13 | transcript | ENST00000355621.8 | protein_coding | 1/6 | chr7 | TogoVar | |||||||
UBE2J2_chr1_1248912_1278854 | 1271974 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02717.hp2 HG02818.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 others(1): Show |
4 | 100 | 0.0400 | -12 | c.-1+ others(27): Show |
UBE2J2 | ENSG00000160087.21 | transcript | ENST00000349431.11 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
UBE2K_chr4_39693136_39787792 | 39697467 | TGTGTGAG others(5): Show |
T | upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0138 | 1 | 329 | 0.0030 | -12 | c.-86 others(21): Show |
UBE2K | ENSG00000078140.14 | transcript | ENST00000261427.10 | protein_coding | 668 | chr4 | TogoVar | |||||||
UBE2K_chr4_39693136_39787792 | 39697471 | TGAGAGAG others(5): Show |
T | upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 101 | 0.0099 | -12 | c.-85 others(21): Show |
UBE2K | ENSG00000078140.14 | transcript | ENST00000261427.10 | protein_coding | 664 | chr4 | TogoVar | |||||||
UBE2K_chr4_39693136_39787792 | 39714517 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | NA18946.hp2 NA18956.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0107 |
2 | 328 | 0.0061 | -12 | c.63+ others(29): Show |
UBE2K | ENSG00000078140.14 | transcript | ENST00000261427.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
UBE2K_chr4_39693136_39787792 | 39738089 | AAGATACA others(5): Show |
A | intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0307 | 1 | 334 | 0.0030 | -12 | c.157 others(27): Show |
UBE2K | ENSG00000078140.14 | transcript | ENST00000261427.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
UBE2K_chr4_39693136_39787792 | 39752323 | TTCTTTTT others(5): Show |
T | intron_variant | MODIFIER | HG02293.hp2 NA18985.hp1 NA18998.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0020 | a0001c0001t0002g0296 a0001c0001t0002g0305 a0001c0001t0002g0307 others(2): Show |
5 | 334 | 0.0150 | -12 | c.217 others(29): Show |
UBE2K | ENSG00000078140.14 | transcript | ENST00000261427.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
UBE2K_chr4_39693136_39787792 | 39765908 | TATACATA others(5): Show |
T | intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0321 | 1 | 106 | 0.0094 | -12 | c.300 others(29): Show |
UBE2K | ENSG00000078140.14 | transcript | ENST00000261427.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
UBE2L3_chr22_21562714_21629034 | 21578962 | ATTATTTA others(5): Show |
A | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0043 | 1 | 197 | 0.0051 | -12 | c.27+ others(29): Show |
UBE2L3 | ENSG00000185651.16 | transcript | ENST00000342192.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
UBE2L3_chr22_21562714_21629034 | 21612643 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG01891.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007 | a0001c0001t0002g0159 a0001c0001t0003g0001 a0001c0001t0003g0009 others(14): Show |
18 | 162 | 0.1111 | -12 | c.310 others(29): Show |
UBE2L3 | ENSG00000185651.16 | transcript | ENST00000342192.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
UBE2L6_chr11_57546662_57572672 | 57551415 | CTTAAATA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154 | 1 | 365 | 0.0027 | -12 | c.*93 others(21): Show |
UBE2L6 | ENSG00000156587.16 | transcript | ENST00000287156.9 | protein_coding | 246 | chr11 | TogoVar | |||||||
UBE2L6_chr11_57546662_57572672 | 57551416 | TTAAATAA others(5): Show |
T | downstream_gene_variant | MODIFIER | HG02559.hp2 HG02818.hp2 HG02886.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0015 others(5): Show |
9 | 276 | 0.0326 | -12 | c.*93 others(21): Show |
UBE2L6 | ENSG00000156587.16 | transcript | ENST00000287156.9 | protein_coding | 245 | chr11 | TogoVar | |||||||
UBE2L6_chr11_57546662_57572672 | 57565356 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG01256.hp1 HG01516.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0035 others(9): Show |
31 | 177 | 0.1751 | -12 | c.27+ others(27): Show |
UBE2L6 | ENSG00000156587.16 | transcript | ENST00000287156.9 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
UBE2N_chr12_93400684_93446947 | 93406275 | CAAAAAAA others(5): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01261.hp2 HG01358.hp1 HG01361.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0040 a0001c0001t0015g0043 a0001c0001t0015g0226 |
5 | 61 | 0.0820 | -12 | c.*37 others(23): Show |
UBE2N | ENSG00000177889.10 | transcript | ENST00000318066.7 | protein_coding | 4/4 | 3752 | chr12 | TogoVar | ||||||
UBE2O_chr17_76384456_76458152 | 76384702 | GCTCCAGT others(5): Show |
G | downstream_gene_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0150 | 1 | 362 | 0.0028 | -12 | c.*62 others(23): Show |
UBE2O | ENSG00000175931.13 | transcript | ENST00000319380.12 | protein_coding | 4753 | chr17 | TogoVar | |||||||
UBE2O_chr17_76384456_76458152 | 76415795 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG02155.hp2 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 a0001c0001t0001g0281 |
2 | 179 | 0.0112 | -12 | c.418 others(31): Show |
UBE2O | ENSG00000175931.13 | transcript | ENST00000319380.12 | protein_coding | 1/17 | chr17 | TogoVar | |||||||
UBE2O_chr17_76384456_76458152 | 76435405 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00423.hp2 others(26): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0010a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0010g0126 a0002c0002t0001g0110 a0002c0002t0001g0134 others(25): Show |
29 | 362 | 0.0801 | -12 | c.417 others(31): Show |
UBE2O | ENSG00000175931.13 | transcript | ENST00000319380.12 | protein_coding | 1/17 | chr17 | TogoVar | |||||||
UBE2O_chr17_76384456_76458152 | 76435417 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0190 | 1 | 160 | 0.0063 | -12 | c.417 others(31): Show |
UBE2O | ENSG00000175931.13 | transcript | ENST00000319380.12 | protein_coding | 1/17 | chr17 | TogoVar | |||||||
UBE2O_chr17_76384456_76458152 | 76445632 | CAGCCTGG others(5): Show |
C | intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 362 | 0.0028 | -12 | c.417 others(29): Show |
UBE2O | ENSG00000175931.13 | transcript | ENST00000319380.12 | protein_coding | 1/17 | chr17 | TogoVar | |||||||
UBE2O_chr17_76384456_76458152 | 76446897 | ATGTGTTT others(5): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG02132.hp2 HG02148.hp2 others(25): Show |
a0001a0007 | a0001c0003a0001c0019a0007c0020 | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(2): Show | a0001c0003t0001g0217 a0001c0003t0002g0016 a0001c0003t0002g0282 others(24): Show |
28 | 362 | 0.0773 | -12 | c.417 others(29): Show |
UBE2O | ENSG00000175931.13 | transcript | ENST00000319380.12 | protein_coding | 1/17 | chr17 | TogoVar | |||||||
UBE2Q1_chr1_154543577_154563662 | 154558455 | CCCCCCTG others(5): Show |
C | disruptive_inframe_deletion | MODERATE | HG02922.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0079 | 1 | 364 | 0.0027 | -12 | c.87_ others(17): Show |
p.Gly others(11): Show |
UBE2Q1 | ENSG00000160714.10 | transcript | ENST00000292211.5 | protein_coding | 1/13 | 207/3239 | 87/1269 | 29/422 | chr1 | TogoVar | |||
UBE2Q1_chr1_154543577_154563662 | 154558614 | TCCGCCGC others(5): Show |
T | 5_prime_UTR_variant | MODIFIER | HG02886.hp1 HG02976.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0025 a0001c0001t0009g0034 a0001c0001t0009g0035 |
4 | 99 | 0.0404 | -12 | c.-73 others(19): Show |
UBE2Q1 | ENSG00000160714.10 | transcript | ENST00000292211.5 | protein_coding | 1/13 | 62 | chr1 | TogoVar | ||||||
UBE2Q1_chr1_154543577_154563662 | 154560123 | ATATATAT others(5): Show |
A | upstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0041 | 1 | 364 | 0.0027 | -12 | c.-15 others(23): Show |
UBE2Q1 | ENSG00000160714.10 | transcript | ENST00000292211.5 | protein_coding | 1462 | chr1 | TogoVar | |||||||
UBE2Q1_chr1_154543577_154563662 | 154560131 | ATATTTAT others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00609.hp2 others(21): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0045 others(5): Show |
24 | 307 | 0.0782 | -12 | c.-15 others(23): Show |
UBE2Q1 | ENSG00000160714.10 | transcript | ENST00000292211.5 | protein_coding | 1470 | chr1 | TogoVar | |||||||
UBE2Q2_chr15_75838447_75906078 | 75883839 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(329): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(267): Show |
332 | 335 | 0.9910 | -12 | c.884 others(27): Show |
UBE2Q2 | ENSG00000140367.12 | transcript | ENST00000267938.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UBE2QL1_chr5_6443859_6501723 | 6445653 | CTTTTCTT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00735.hp1 HG00741.hp2 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0024 others(48): Show |
58 | 281 | 0.2064 | -12 | c.-32 others(23): Show |
UBE2QL1 | ENSG00000215218.4 | transcript | ENST00000399816.4 | protein_coding | 3205 | chr5 | TogoVar | |||||||
UBE2QL1_chr5_6443859_6501723 | 6501404 | ATGGATGG others(5): Show |
A | downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0141 | 1 | 338 | 0.0030 | -12 | c.*10 others(25): Show |
UBE2QL1 | ENSG00000215218.4 | transcript | ENST00000399816.4 | protein_coding | 4682 | chr5 | TogoVar |