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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TRIM28_chr19_58539064_58555715 | 58542627 | ACCTGCTT others(32): Show |
A | upstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0008 | 1 | 399 | 0.0025 | -39 | c.-21 others(50): Show |
TRIM28 | ENSG00000130726.12 | transcript | ENST00000253024.10 | protein_coding | 1436 | chr19 | TogoVar | |||||||
TRIM29_chr11_120106286_120143113 | 120137633 | CGAGAAAA others(32): Show |
C | disruptive_inframe_deletion | MODERATE | HG01074.hp2 | a0003 | a0003c0013 | a0003c0013t0001 | a0003c0013t0001g0256 | 1 | 398 | 0.0025 | -39 | c.360 others(46): Show |
p.Phe others(13): Show |
TRIM29 | ENSG00000137699.17 | transcript | ENST00000341846.10 | protein_coding | 1/9 | 480/2977 | 360/1767 | 120/588 | chr11 | TogoVar | |||
TRIM2_chr4_153199443_153344317 | 153244298 | CTCCTCCT others(32): Show |
C | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0235 a0001c0001t0002g0240 |
2 | 266 | 0.0075 | -39 | c.31- others(56): Show |
TRIM2 | ENSG00000109654.16 | transcript | ENST00000338700.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TRIM37_chr17_58993202_59111880 | 59091535 | AATAATGT others(32): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(199): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0339 a0001c0001t0002g0080 a0001c0001t0002g0089 others(199): Show |
202 | 340 | 0.5941 | -39 | c.124 others(54): Show |
TRIM37 | ENSG00000108395.14 | transcript | ENST00000262294.12 | protein_coding | 2/23 | chr17 | TogoVar | |||||||
TRIO_chr5_14138342_14515204 | 14349247 | ACACGTGA others(32): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG03486.hp2 |
a0003 | a0003c0012 | a0003c0012t0005 | a0003c0012t0005g0009 a0003c0012t0005g0010 a0003c0012t0005g0011 |
3 | 196 | 0.0153 | -39 | c.204 others(58): Show |
TRIO | ENSG00000038382.23 | transcript | ENST00000344204.9 | protein_coding | 11/56 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TRMT112_chr11_64311460_64322559 | 64314849 | CCCTCTGT others(32): Show |
C | downstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 376 | 0.0027 | -39 | c.*19 others(50): Show |
TRMT112 | ENSG00000173113.7 | transcript | ENST00000544844.6 | protein_coding | 1610 | chr11 | TogoVar | |||||||
TRPA1_chr8_72016250_72080584 | 72023184 | GGCATAGG others(32): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(245): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0009others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(32): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(178): Show |
248 | 400 | 0.6200 | -39 | c.315 others(55): Show |
TRPA1 | ENSG00000104321.11 | transcript | ENST00000262209.5 | protein_coding | 26/26 | chr8 | TogoVar | |||||||
TRPM5_chr11_2399515_2449514 | 2430827 | ATGGTGGT others(32): Show |
A | intron_variant | MODIFIER | NA18969.hp2 NA18992.hp2 NA18998.hp1 others(3): Show |
a0001 | a0001c0001a0001c0008a0001c0010 | a0001c0001t0003a0001c0008t0003a0001c0010t0003 | a0001c0001t0003g0255 a0001c0008t0003g0227 a0001c0008t0003g0254 others(3): Show |
6 | 413 | 0.0145 | -39 | c.-40 others(58): Show |
TRPM5 | ENSG00000070985.14 | transcript | ENST00000696290.1 | protein_coding | 3/28 | chr11 | TogoVar | |||||||
TSNARE1_chr8_142207080_142408182 | 142235168 | TCCAGAGA others(32): Show |
T | intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 236 | 0.0042 | -39 | c.144 others(58): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 12/13 | chr8 | TogoVar | |||||||
TSPAN13_chr7_16748755_16789536 | 16787232 | GCCTACTT others(32): Show |
G | downstream_gene_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0191 | 1 | 438 | 0.0023 | -39 | c.*37 others(50): Show |
TSPAN13 | ENSG00000106537.8 | transcript | ENST00000262067.5 | protein_coding | 2697 | chr7 | TogoVar | |||||||
TSPAN15_chr10_69446465_69512666 | 69455559 | CTTTCTTT others(32): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG02040.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0303 a0001c0001t0002g0273 a0001c0001t0002g0275 others(13): Show |
16 | 313 | 0.0511 | -39 | c.96+ others(54): Show |
TSPAN15 | ENSG00000099282.10 | transcript | ENST00000373290.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
TSPAN9_chr12_3072379_3291559 | 3235214 | AAAAATAT others(32): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG03491.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0083 | a0001c0001t0002g0245 a0001c0001t0083g0228 |
2 | 258 | 0.0078 | -39 | c.63+ others(56): Show |
TSPAN9 | ENSG00000011105.14 | transcript | ENST00000011898.10 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TSPAN9_chr12_3072379_3291559 | 3235216 | AAATATAT others(32): Show |
A | intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0176 | 1 | 259 | 0.0039 | -39 | c.63+ others(56): Show |
TSPAN9 | ENSG00000011105.14 | transcript | ENST00000011898.10 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TSPEAR_chr21_44492893_44716572 | 44534256 | GGGGCTGG others(32): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0040 a0001c0001t0001g0054 others(34): Show |
37 | 290 | 0.1276 | -39 | c.304 others(54): Show |
TSPEAR | ENSG00000175894.18 | transcript | ENST00000323084.9 | protein_coding | 2/11 | chr21 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133291483 | CGGGGAGC others(32): Show |
C | intron_variant | MODIFIER | HG01261.hp2 HG02004.hp2 HG02148.hp1 others(1): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0003a0001c0004t0002 | a0001c0002t0003g0053 a0001c0002t0003g0061 a0001c0002t0003g0062 others(1): Show |
4 | 282 | 0.0142 | -39 | c.121 others(57): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133291577 | CGGGGAGC others(32): Show |
C | intron_variant | MODIFIER | HG01261.hp2 HG01978.hp2 HG02004.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0011 a0001c0002t0003g0053 a0001c0002t0003g0061 others(2): Show |
6 | 281 | 0.0214 | -39 | c.121 others(56): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133291671 | CGGGGAGC others(32): Show |
C | intron_variant | MODIFIER | HG01978.hp2 HG02015.hp2 NA18973.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0011 a0001c0002t0003g0065 |
3 | 280 | 0.0107 | -39 | c.121 others(56): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133291762 | TCCCGGGG others(32): Show |
T | intron_variant | MODIFIER | HG02148.hp1 NA18964.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0061 a0001c0002t0003g0063 |
2 | 282 | 0.0071 | -39 | c.121 others(56): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133291860 | CGGGGAGC others(32): Show |
C | intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0061 | 1 | 281 | 0.0036 | -39 | c.121 others(56): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133292001 | ACCCTCCG others(32): Show |
A | intron_variant | MODIFIER | HG02723.hp2 HG03471.hp2 NA18990.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0002 | a0001c0001t0001g0128 a0001c0001t0001g0176 a0001c0001t0001g0191 others(1): Show |
4 | 244 | 0.0164 | -39 | c.121 others(56): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133292043 | CTCCGTGT others(32): Show |
C | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0166 | 1 | 276 | 0.0036 | -39 | c.121 others(56): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133292306 | CCGGGGAG others(32): Show |
C | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 2 | 282 | 0.0071 | -39 | c.121 others(56): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TULP4_chr6_158307465_158516828 | 158309446 | ATGGGCGG others(32): Show |
A | upstream_gene_variant | MODIFIER | HG02647.hp1 HG02886.hp1 HG02970.hp2 others(2): Show |
a0001 | a0001c0003a0001c0029 | a0001c0003t0015a0001c0003t0042a0001c0029t0038 | a0001c0003t0015g0232 a0001c0003t0015g0233 a0001c0003t0015g0234 others(2): Show |
5 | 266 | 0.0188 | -39 | c.-45 others(50): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 3018 | chr6 | TogoVar | |||||||
TULP4_chr6_158307465_158516828 | 158350244 | GGGGCGGC others(32): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(214): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0004others(30): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(98): Show | a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0087 others(214): Show |
217 | 266 | 0.8158 | -39 | c.252 others(58): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TYMS_chr18_652653_678578 | 667424 | TGATGGAG others(32): Show |
T | intron_variant | MODIFIER | HG03540.hp1 NA18965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0137 a0001c0001t0002g0078 |
2 | 392 | 0.0051 | -39 | c.455 others(56): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TYMS_chr18_652653_678578 | 667430 | AGATGGTG others(32): Show |
A | intron_variant | MODIFIER | HG04228.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0233 a0001c0001t0003g0262 |
2 | 323 | 0.0062 | -39 | c.455 others(56): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99273532 | GAAGAAAT others(32): Show |
G | intron_variant | MODIFIER | HG00438.hp1 NA18972.hp1 NA18977.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0287 a0001c0001t0004g0296 a0001c0001t0004g0319 |
3 | 378 | 0.0079 | -39 | c.389 others(58): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 4/8 | chr13 | TogoVar | |||||||
UBAP2L_chr1_154215955_154275847 | 154270799 | CAAATTTA others(32): Show |
C | 3_prime_UTR_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0098 | 1 | 348 | 0.0029 | -39 | c.*50 others(48): Show |
UBAP2L | ENSG00000143569.20 | transcript | ENST00000428931.6 | protein_coding | 27/27 | 508 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
UBAP2_chr9_33916693_34053887 | 33939804 | AGGAGGAA others(32): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00609.hp2 others(46): Show |
a0002 | a0002c0001a0002c0013a0002c0024others(1): Show | a0002c0001t0002a0002c0001t0003a0002c0013t0002others(2): Show | a0002c0001t0002g0045 a0002c0001t0002g0046 a0002c0001t0002g0047 others(46): Show |
49 | 348 | 0.1408 | -39 | c.192 others(58): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 16/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 33939897 | GAGGAGGA others(32): Show |
G | intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0052 | 1 | 354 | 0.0028 | -39 | c.192 others(58): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 16/28 | chr9 | TogoVar | |||||||
UBE2S_chr19_55394745_55412788 | 55396480 | CCCCTCCC others(32): Show |
C | downstream_gene_variant | MODIFIER | HG02717.hp1 HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0005 | a0001c0001t0005g0110 a0001c0002t0005g0036 |
3 | 272 | 0.0110 | -39 | c.*49 others(50): Show |
UBE2S | ENSG00000108106.14 | transcript | ENST00000264552.14 | protein_coding | 3264 | chr19 | TogoVar | |||||||
UBN2_chr7_139226237_139313236 | 139253229 | CATCTGGG others(32): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00673.hp2 others(121): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0005a0001c0001t0006a0001c0001t0014others(67): Show | a0001c0001t0005g0006 a0001c0001t0005g0018 a0001c0001t0005g0034 others(118): Show |
124 | 260 | 0.4769 | -39 | c.663 others(56): Show |
UBN2 | ENSG00000157741.15 | transcript | ENST00000473989.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UBR1_chr15_42937897_43111038 | 43076504 | TCTCTGCC others(32): Show |
T | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 274 | 0.0036 | -39 | c.418 others(56): Show |
UBR1 | ENSG00000159459.12 | transcript | ENST00000290650.9 | protein_coding | 3/46 | chr15 | TogoVar | |||||||
UCN3_chr10_5359966_5379692 | 5372970 | GTCTGACT others(32): Show |
G | intron_variant | MODIFIER | NA18983.hp2 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0159 | 1 | 466 | 0.0021 | -39 | c.-6- others(52): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5378554 | CAACATAG others(32): Show |
C | downstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 | 1 | 466 | 0.0021 | -39 | c.*43 others(50): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 3863 | chr10 | TogoVar | |||||||
UGT1A3_chr2_233724042_233778300 | 233724512 | CTCCCAGA others(32): Show |
C | upstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 348 | 0.0029 | -39 | c.-46 others(50): Show |
UGT1A3 | ENSG00000288702.1 | transcript | ENST00000482026.6 | protein_coding | 4529 | chr2 | TogoVar | |||||||
UGT1A4_chr2_233713736_233778300 | 233724512 | CTCCCAGA others(32): Show |
C | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 330 | 0.0030 | -39 | c.867 others(56): Show |
UGT1A4 | ENSG00000244474.6 | transcript | ENST00000373409.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A5_chr2_233707907_233778300 | 233724512 | CTCCCAGA others(32): Show |
C | intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 328 | 0.0030 | -39 | c.867 others(58): Show |
UGT1A5 | ENSG00000288705.1 | transcript | ENST00000373414.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A6_chr2_233687890_233778300 | 233724512 | CTCCCAGA others(32): Show |
C | intron_variant | MODIFIER | HG03942.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0285 | 1 | 330 | 0.0030 | -39 | c.861 others(58): Show |
UGT1A6 | ENSG00000167165.19 | transcript | ENST00000305139.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A7_chr2_233676901_233778300 | 233724512 | CTCCCAGA others(32): Show |
C | intron_variant | MODIFIER | HG03942.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0052 | 1 | 318 | 0.0031 | -39 | c.855 others(58): Show |
UGT1A7 | ENSG00000244122.3 | transcript | ENST00000373426.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A9_chr2_233666898_233778300 | 233724512 | CTCCCAGA others(32): Show |
C | intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 316 | 0.0032 | -39 | c.856 others(58): Show |
UGT1A9 | ENSG00000241119.2 | transcript | ENST00000354728.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UHRF2_chr9_6408199_6512054 | 6488251 | TAAAAAAA others(32): Show |
T | intron_variant | MODIFIER | HG02818.hp2 HG02886.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0102 a0001c0001t0001g0136 others(1): Show |
4 | 7 | 0.5714 | -39 | c.149 others(58): Show |
UHRF2 | ENSG00000147854.17 | transcript | ENST00000276893.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UMPS_chr3_124725452_124754273 | 124750785 | GGGATGGC others(32): Show |
G | downstream_gene_variant | MODIFIER | HG02135.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0100 | 1 | 432 | 0.0023 | -39 | c.*67 others(50): Show |
UMPS | ENSG00000114491.14 | transcript | ENST00000232607.7 | protein_coding | 1513 | chr3 | TogoVar | |||||||
UNC5D_chr8_35230475_35801540 | 35248003 | TATAAAAT others(32): Show |
T | intron_variant | MODIFIER | HG02717.hp2 HG03516.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0021a0001c0003t0011 | a0001c0001t0021g0009 a0001c0003t0011g0056 |
2 | 63 | 0.0317 | -39 | c.103 others(58): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UNC5D_chr8_35230475_35801540 | 35248988 | ATATTATA others(32): Show |
A | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0031 | 1 | 64 | 0.0156 | -39 | c.103 others(58): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UQCC1_chr20_35297578_35416973 | 35410716 | AAAAAAAA others(32): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0249 | 1 | 208 | 0.0048 | -39 | c.24+ others(54): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
USP34_chr2_61182463_61476087 | 61475686 | TATTTATA others(32): Show |
T | upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 310 | 0.0032 | -39 | c.-50 others(50): Show |
USP34 | ENSG00000115464.15 | transcript | ENST00000398571.7 | protein_coding | 4600 | chr2 | TogoVar | |||||||
USP53_chr4_119207713_119300518 | 119248180 | ATTTCCAG others(32): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG02451.hp2 others(16): Show |
a0001a0009 | a0001c0001a0009c0014 | a0001c0001t0007a0001c0001t0010a0001c0001t0016others(6): Show | a0001c0001t0007g0168 a0001c0001t0007g0170 a0001c0001t0010g0033 others(16): Show |
19 | 378 | 0.0503 | -39 | c.238 others(54): Show |
USP53 | ENSG00000145390.12 | transcript | ENST00000692078.1 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
USP7_chr16_8887097_8968906 | 8953977 | CTGCGGCG others(32): Show |
C | intron_variant | MODIFIER | HG03453.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023 | a0001c0001t0001g0056 a0001c0001t0023g0057 |
2 | 332 | 0.0060 | -39 | c.79+ others(54): Show |
USP7 | ENSG00000187555.17 | transcript | ENST00000344836.9 | protein_coding | 1/30 | chr16 | TogoVar | |||||||
UTP20_chr12_101275105_101391618 | 101340937 | CTTTTTTT others(32): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00609.hp2 others(121): Show |
a0001a0003a0008others(9): Show | a0001c0002a0001c0003a0001c0004others(15): Show | a0001c0002t0001a0001c0002t0003a0001c0003t0001others(20): Show | a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 others(119): Show |
124 | 130 | 0.9538 | -39 | c.410 others(56): Show |
UTP20 | ENSG00000120800.5 | transcript | ENST00000261637.5 | protein_coding | 32/61 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |