| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UAP1_chr1_162556722_162606240 | 162589140 | ATTTATAT others(10): Show |
A | intron_variant | MODIFIER | HG02027.hp2 NA18966.hp2 NA18967.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003a0001c0001t0004g0047a0001c0001t0004g0048others(2): Show | 14 | 412 | 0.0340 | -17 | c.116 others(34): Show |
UAP1 | ENSG00000117143.14 | transcript | ENST00000367925.6 | protein_coding | 7/10 | chr1 | TogoVar | ||||||
| UBA1_chrX_47188829_47220128 | 47203572 | TCAAGAAC others(10): Show |
T | frameshift_variant | HIGH | NA19003.hp2 | a0008 | a0008c0018 | a0008c0018t0001 | a0008c0018t0001g0139 | 1 | 281 | 0.0036 | -17 | c.145 others(26): Show |
p.Lys others(5): Show |
UBA1 | ENSG00000130985.17 | transcript | ENST00000335972.11 | protein_coding | 14/26 | 1648/3572 | 1452/3177 | 484/1058 | chrX | TogoVar | ||
| UBAC2_chr13_99195854_99391504 | 99292206 | GCTCACTG others(10): Show |
G | intron_variant | MODIFIER | HG02698.hp2 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0083a0001c0001t0009g0084 | 2 | 380 | 0.0053 | -17 | c.390 others(36): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| UBALD1_chr16_4603884_4619888 | 4607215 | ACTTTGGG others(10): Show |
A | downstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 340 | 0.0029 | -17 | c.*24 others(28): Show |
UBALD1 | ENSG00000153443.13 | transcript | ENST00000283474.12 | protein_coding | 1668 | chr16 | TogoVar | ||||||
| UBAP1_chr9_34174043_34257523 | 34184926 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 342 | 0.0029 | -17 | c.-8+ others(32): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| UBAP1_chr9_34174043_34257523 | 34195927 | GTTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0063a0001c0001t0005g0273 | 2 | 342 | 0.0059 | -17 | c.-8+ others(34): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| UBAP1_chr9_34174043_34257523 | 34218250 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02559.hp1 HG02559.hp2 others(7): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0005a0006c0008t0005 | a0001c0001t0005g0003a0001c0001t0005g0014a0001c0001t0005g0259others(7): Show | 10 | 342 | 0.0292 | -17 | c.-7- others(32): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| UBAP2_chr9_33916693_34053887 | 33939856 | GGGGGAGG others(10): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp2 others(78): Show |
a0001a0003a0004others(4): Show | a0001c0002a0001c0003a0001c0022others(6): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(11): Show | a0001c0002t0001g0141a0001c0002t0001g0258a0001c0002t0001g0264others(78): Show | 81 | 356 | 0.2275 | -17 | c.192 others(36): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 16/28 | chr9 | TogoVar | ||||||
| UBAP2_chr9_33916693_34053887 | 33981146 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0299 | 1 | 356 | 0.0028 | -17 | c.520 others(34): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 6/28 | chr9 | TogoVar | ||||||
| UBAP2_chr9_33916693_34053887 | 33981188 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG01934.hp1 HG02040.hp1 NA20805.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0137a0001c0002t0001g0181a0001c0003t0001g0334 | 3 | 356 | 0.0084 | -17 | c.520 others(34): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 6/28 | chr9 | TogoVar | ||||||
| UBAP2_chr9_33916693_34053887 | 33981209 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0293 | 1 | 356 | 0.0028 | -17 | c.520 others(34): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 6/28 | chr9 | TogoVar | ||||||
| UBAP2_chr9_33916693_34053887 | 33981228 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | NA18522.hp2 NA19060.hp2 NA19077.hp1 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0003 | a0002c0001t0002g0083a0002c0001t0002g0088a0002c0001t0002g0110others(1): Show | 4 | 356 | 0.0112 | -17 | c.520 others(34): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 6/28 | chr9 | TogoVar | ||||||
| UBAP2_chr9_33916693_34053887 | 33981247 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0026 | a0002c0026t0002 | a0002c0026t0002g0079 | 1 | 356 | 0.0028 | -17 | c.520 others(34): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 6/28 | chr9 | TogoVar | ||||||
| UBAP2_chr9_33916693_34053887 | 33999890 | GTATGTAT others(10): Show |
G | intron_variant | MODIFIER | HG00609.hp1 HG02129.hp1 NA18945.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0044a0001c0002t0001g0130a0001c0002t0001g0152others(2): Show | 5 | 356 | 0.0140 | -17 | c.100 others(34): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 2/28 | chr9 | TogoVar | ||||||
| UBASH3A_chr21_42398902_42452684 | 42399354 | TAAAAAAA others(10): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG02451.hp1 HG02738.hp2 others(3): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0015 | a0001c0002t0001a0001c0003t0002a0002c0015t0004 | a0001c0002t0001g0305a0001c0002t0001g0309a0001c0003t0002g0235others(3): Show | 6 | 408 | 0.0147 | -17 | c.-45 others(28): Show |
UBASH3A | ENSG00000160185.15 | transcript | ENST00000319294.11 | protein_coding | 4547 | chr21 | TogoVar | ||||||
| UBASH3B_chr11_122650722_122819473 | 122717929 | AAGTCTCA others(10): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG00673.hp1 HG01243.hp2 others(40): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(25): Show | a0001c0001t0001g0156a0001c0001t0001g0247a0001c0001t0004g0262others(40): Show | 43 | 290 | 0.1483 | -17 | c.162 others(36): Show |
UBASH3B | ENSG00000154127.10 | transcript | ENST00000284273.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| UBE2D2_chr5_139556339_139633434 | 139570145 | TAGTCCTA others(10): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG02818.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222a0001c0001t0001g0223a0001c0001t0001g0224 | 3 | 226 | 0.0133 | -17 | c.24+ others(32): Show |
UBE2D2 | ENSG00000131508.17 | transcript | ENST00000398733.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| UBE2D2_chr5_139556339_139633434 | 139590782 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG02523.hp2 HG02602.hp2 HG02683.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003a0001c0001t0001g0196a0001c0001t0001g0201others(4): Show | 7 | 226 | 0.0310 | -17 | c.25- others(32): Show |
UBE2D2 | ENSG00000131508.17 | transcript | ENST00000398733.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| UBE2E1_chr3_23800955_23896640 | 23842232 | TGTGTGTG others(10): Show |
T | intron_variant | MODIFIER | NA18957.hp1 NA18969.hp1 NA19004.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0019 | 3 | 370 | 0.0081 | -17 | c.203 others(36): Show |
UBE2E1 | ENSG00000170142.12 | transcript | ENST00000306627.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| UBE2E3_chr2_180975605_181068425 | 181020911 | TTAGGGAA others(10): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00558.hp2 others(65): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(60): Show | 68 | 338 | 0.2012 | -17 | c.246 others(36): Show |
UBE2E3 | ENSG00000170035.16 | transcript | ENST00000410062.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| UBE2F_chr2_237962014_238047782 | 237977219 | AGGTCTCA others(10): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(304): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(290): Show | 307 | 368 | 0.8342 | -17 | c.118 others(34): Show |
UBE2F | ENSG00000184182.19 | transcript | ENST00000272930.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| UBE2F_chr2_237962014_238047782 | 237978909 | AGGGCAGA others(10): Show |
A | intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 368 | 0.0027 | -17 | c.118 others(34): Show |
UBE2F | ENSG00000184182.19 | transcript | ENST00000272930.9 | protein_coding | 2/9 | chr2 | TogoVar | ||||||
| UBE2G1_chr17_4264259_4371675 | 4284834 | CTTTCTTT others(10): Show |
C | intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0020 | 1 | 272 | 0.0037 | -17 | c.427 others(34): Show |
UBE2G1 | ENSG00000132388.13 | transcript | ENST00000396981.7 | protein_coding | 4/5 | chr17 | TogoVar | ||||||
| UBE2G2_chr21_44763580_44806820 | 44763932 | GCACACCC others(10): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(79): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0208a0001c0001t0002g0077a0001c0001t0003g0003others(55): Show | 82 | 368 | 0.2228 | -17 | c.*74 others(28): Show |
UBE2G2 | ENSG00000184787.19 | transcript | ENST00000345496.7 | protein_coding | 4647 | chr21 | TogoVar | ||||||
| UBE2H_chr7_129825732_129957960 | 129836879 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00733.hp1 others(53): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(9): Show | a0001c0001t0002g0080a0001c0001t0002g0123a0001c0001t0002g0124others(53): Show | 56 | 290 | 0.1931 | -17 | c.428 others(34): Show |
UBE2H | ENSG00000186591.13 | transcript | ENST00000355621.8 | protein_coding | 6/6 | chr7 | TogoVar | ||||||
| UBE2I_chr16_1304636_1332017 | 1319347 | CGCGGTGT others(10): Show |
C | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0227 | 1 | 364 | 0.0028 | -17 | c.224 others(32): Show |
UBE2I | ENSG00000103275.22 | transcript | ENST00000397514.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| UBE2K_chr4_39693136_39787792 | 39702231 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01256.hp2 HG01928.hp1 HG02083.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0188a0001c0001t0001g0189a0001c0001t0004g0070 | 3 | 336 | 0.0089 | -17 | c.63+ others(32): Show |
UBE2K | ENSG00000078140.14 | transcript | ENST00000261427.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| UBE2L3_chr22_21562714_21629034 | 21612643 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0346 | 1 | 352 | 0.0028 | -17 | c.310 others(34): Show |
UBE2L3 | ENSG00000185651.16 | transcript | ENST00000342192.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| UBE2R2_chr9_33812160_33925399 | 33911402 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0273 | 1 | 366 | 0.0027 | -17 | c.363 others(32): Show |
UBE2R2 | ENSG00000107341.5 | transcript | ENST00000263228.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| UBE2W_chr8_73781219_73883862 | 73822602 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0081 | 1 | 266 | 0.0038 | -17 | c.210 others(34): Show |
UBE2W | ENSG00000104343.21 | transcript | ENST00000602593.6 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
| UBE3C_chr7_157133926_157274370 | 157171684 | ATATTTTT others(10): Show |
A | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0182 | 1 | 322 | 0.0031 | -17 | c.342 others(34): Show |
UBE3C | ENSG00000009335.19 | transcript | ENST00000348165.10 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| UBE3C_chr7_157133926_157274370 | 157171686 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0181a0001c0001t0004g0183 | 2 | 322 | 0.0062 | -17 | c.342 others(34): Show |
UBE3C | ENSG00000009335.19 | transcript | ENST00000348165.10 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| UBE3C_chr7_157133926_157274370 | 157208055 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 322 | 0.0031 | -17 | c.180 others(34): Show |
UBE3C | ENSG00000009335.19 | transcript | ENST00000348165.10 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| UBL3_chr13_29759371_29855617 | 29816754 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0152 | 1 | 392 | 0.0026 | -17 | c.27+ others(34): Show |
UBL3 | ENSG00000122042.10 | transcript | ENST00000380680.5 | protein_coding | 1/4 | chr13 | TogoVar | ||||||
| UBQLN1_chr9_83654968_83712958 | 83673551 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0191 | 1 | 308 | 0.0033 | -17 | c.110 others(36): Show |
UBQLN1 | ENSG00000135018.14 | transcript | ENST00000376395.9 | protein_coding | 6/10 | chr9 | TogoVar | ||||||
| UBR2_chr6_42559029_42698505 | 42659546 | CACACACA others(10): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0003 | a0003c0008 | a0003c0008t0011 | a0003c0008t0011g0340 | 1 | 342 | 0.0029 | -17 | c.324 others(32): Show |
UBR2 | ENSG00000024048.11 | transcript | ENST00000372901.2 | protein_coding | 29/46 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| UBR3_chr2_169822454_170089131 | 169838386 | TTTGTGTG others(10): Show |
T | intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0146 | 1 | 324 | 0.0031 | -17 | c.545 others(36): Show |
UBR3 | ENSG00000144357.18 | transcript | ENST00000272793.11 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| UBR3_chr2_169822454_170089131 | 169853821 | TTGTGTTT others(10): Show |
T | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0168 | 1 | 324 | 0.0031 | -17 | c.546 others(36): Show |
UBR3 | ENSG00000144357.18 | transcript | ENST00000272793.11 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| UBR3_chr2_169822454_170089131 | 170075172 | AAGATGCT others(10): Show |
A | intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0165a0001c0002t0002g0166 | 2 | 324 | 0.0062 | -17 | c.519 others(36): Show |
UBR3 | ENSG00000144357.18 | transcript | ENST00000272793.11 | protein_coding | 36/38 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| UBR4_chr1_19069510_19215266 | 19166714 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG02109.hp2 HG02135.hp1 others(1): Show |
a0002a0019 | a0002c0002a0002c0024a0019c0043 | a0002c0002t0001a0002c0024t0001a0019c0043t0001 | a0002c0002t0001g0073a0002c0002t0001g0097a0002c0024t0001g0055others(1): Show | 4 | 326 | 0.0123 | -17 | c.410 others(34): Show |
UBR4 | ENSG00000127481.15 | transcript | ENST00000375254.8 | protein_coding | 29/105 | chr1 | TogoVar | ||||||
| UBTF_chr17_44200040_44224675 | 44204903 | CTATGGAA others(10): Show |
C | downstream_gene_variant | MODIFIER | NA19058.hp2 | a0003 | a0003c0009 | a0003c0009t0031 | a0003c0009t0031g0057 | 1 | 372 | 0.0027 | -17 | c.*23 others(28): Show |
UBTF | ENSG00000108312.16 | transcript | ENST00000436088.6 | protein_coding | 136 | chr17 | TogoVar | ||||||
| UBXN4_chr2_135736855_135790056 | 135750835 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG00639.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0009others(1): Show | a0001c0001t0004g0003a0001c0001t0004g0032a0001c0001t0004g0119others(14): Show | 23 | 370 | 0.0622 | -17 | c.185 others(34): Show |
UBXN4 | ENSG00000144224.17 | transcript | ENST00000272638.14 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| UBXN7_chr3_196342662_196437427 | 196429184 | AGGCGTGG others(10): Show |
A | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0188 | 1 | 274 | 0.0037 | -17 | c.73+ others(32): Show |
UBXN7 | ENSG00000163960.12 | transcript | ENST00000296328.9 | protein_coding | 1/10 | chr3 | TogoVar | ||||||
| UCHL3_chr13_75544791_75611020 | 75595597 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG03490.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081a0001c0001t0001g0082 | 2 | 326 | 0.0061 | -17 | c.550 others(32): Show |
UCHL3 | ENSG00000118939.19 | transcript | ENST00000377595.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| UCHL3_chr13_75544791_75611020 | 75609390 | GCCTGTAG others(10): Show |
G | downstream_gene_variant | MODIFIER | HG00735.hp1 HG02647.hp2 HG02723.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0080a0001c0001t0001g0081a0001c0001t0001g0082others(7): Show | 10 | 326 | 0.0307 | -17 | c.*35 others(28): Show |
UCHL3 | ENSG00000118939.19 | transcript | ENST00000377595.8 | protein_coding | 3371 | chr13 | TogoVar | ||||||
| UCK2_chr1_165822614_165916618 | 165880562 | TGGGGGTG others(10): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00735.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0123a0001c0001t0003g0211a0001c0001t0003g0229others(14): Show | 17 | 320 | 0.0531 | -17 | c.100 others(34): Show |
UCK2 | ENSG00000143179.16 | transcript | ENST00000367879.9 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
| UCKL1_chr20_63934829_63961416 | 63938637 | GGGGGGCG others(10): Show |
G | downstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0257 | 1 | 356 | 0.0028 | -17 | c.*13 others(28): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1191 | chr20 | TogoVar | ||||||
| UEVLD_chr11_18524609_18593734 | 18528361 | ATATATAT others(10): Show |
A | downstream_gene_variant | MODIFIER | NA19068.hp1 NA19081.hp1 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0354a0001c0003t0004g0371 | 2 | 400 | 0.0050 | -17 | c.*39 others(28): Show |
UEVLD | ENSG00000151116.17 | transcript | ENST00000396197.8 | protein_coding | 1247 | chr11 | TogoVar | ||||||
| UFSP2_chr4_185394537_185430964 | 185426879 | CAAAAAAA others(10): Show |
C | upstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 300 | 0.0033 | -17 | c.-10 others(28): Show |
UFSP2 | ENSG00000109775.11 | transcript | ENST00000264689.11 | protein_coding | 916 | chr4 | TogoVar | ||||||
| UGGT1_chr2_128086200_128200677 | 128197593 | AAAATCAA others(10): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0079 | 1 | 332 | 0.0030 | -17 | c.*78 others(28): Show |
UGGT1 | ENSG00000136731.13 | transcript | ENST00000259253.11 | protein_coding | 1917 | chr2 | TogoVar |