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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TYW1_chr7_66991833_67244514 | 67094651 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0010 | a0010c0020 | a0010c0020t0008 | a0010c0020t0008g0213 | 1 | 30 | 0.0333 | -12 | c.138 others(31): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67112100 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01069.hp1 others(59): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0021a0002c0003others(3): Show | a0001c0001t0001a0001c0021t0001a0002c0003t0002others(6): Show | a0001c0001t0001g0125 a0001c0001t0001g0208 a0001c0001t0001g0233 others(59): Show |
62 | 149 | 0.4161 | -12 | c.156 others(31): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67118878 | GAAAAAAA others(5): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01069.hp1 others(60): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0021a0002c0003others(3): Show | a0001c0001t0001a0001c0021t0001a0002c0003t0002others(6): Show | a0001c0001t0001g0125 a0001c0001t0001g0208 a0001c0001t0001g0233 others(60): Show |
63 | 226 | 0.2788 | -12 | c.169 others(31): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67136650 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG03490.hp1 NA19043.hp1 |
a0002a0003 | a0002c0004a0003c0005 | a0002c0004t0004a0003c0005t0002 | a0002c0004t0004g0292 a0003c0005t0002g0012 |
2 | 86 | 0.0233 | -12 | c.169 others(33): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67136675 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp1 HG01993.hp2 others(7): Show |
a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0195 a0003c0005t0002g0196 a0003c0005t0002g0197 others(7): Show |
10 | 362 | 0.0276 | -12 | c.169 others(33): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67160522 | GTATACAT others(5): Show |
G | intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 124 | 0.0081 | -12 | c.169 others(33): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67187052 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG03195.hp1 NA19043.hp2 NA19240.hp2 |
a0002a0010 | a0002c0003a0010c0020 | a0002c0003t0002a0010c0020t0008 | a0002c0003t0002g0210 a0002c0003t0002g0211 a0010c0020t0008g0213 |
3 | 33 | 0.0909 | -12 | c.180 others(31): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67201307 | AAACAACA others(5): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00738.hp2 others(66): Show |
a0002a0007a0011 | a0002c0003a0002c0004a0002c0007others(2): Show | a0002c0003t0002a0002c0003t0004a0002c0003t0013others(5): Show | a0002c0003t0002g0005 a0002c0003t0002g0123 a0002c0003t0002g0124 others(66): Show |
69 | 128 | 0.5391 | -12 | c.197 others(31): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67206622 | CATAAATA others(5): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG01069.hp1 others(32): Show |
a0002a0003a0011 | a0002c0003a0002c0004a0003c0005others(1): Show | a0002c0003t0004a0002c0004t0004a0003c0005t0002others(1): Show | a0002c0003t0004g0172 a0002c0003t0004g0205 a0002c0003t0004g0206 others(32): Show |
35 | 172 | 0.2035 | -12 | c.197 others(33): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67207717 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00642.hp1 others(78): Show |
a0002a0003a0007others(1): Show | a0002c0003a0002c0004a0002c0007others(3): Show | a0002c0003t0002a0002c0003t0004a0002c0003t0013others(6): Show | a0002c0003t0002g0005 a0002c0003t0002g0123 a0002c0003t0002g0124 others(78): Show |
81 | 217 | 0.3733 | -12 | c.197 others(33): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67210919 | ACCATCCA others(5): Show |
A | intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 | 1 | 232 | 0.0043 | -12 | c.197 others(33): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW3_chr1_74728152_74771677 | 74747890 | CATATACA others(5): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0109 a0001c0001t0003g0110 |
2 | 330 | 0.0061 | -12 | c.355 others(27): Show |
TYW3 | ENSG00000162623.16 | transcript | ENST00000370867.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TYW5_chr2_199923913_199960491 | 199935719 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(140): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0016 others(57): Show |
143 | 234 | 0.6111 | -12 | c.691 others(27): Show |
TYW5 | ENSG00000162971.11 | transcript | ENST00000354611.9 | protein_coding | 7/7 | chr2 | TogoVar | |||||||
TYW5_chr2_199923913_199960491 | 199935755 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG02132.hp2 NA18943.hp1 NA19079.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0009a0002c0002t0020 | a0001c0001t0002g0158 a0002c0002t0009g0026 a0002c0002t0020g0145 |
3 | 382 | 0.0079 | -12 | c.691 others(27): Show |
TYW5 | ENSG00000162971.11 | transcript | ENST00000354611.9 | protein_coding | 7/7 | chr2 | TogoVar | |||||||
U2AF1L4_chr19_35737527_35750418 | 35743373 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(68): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0008 others(1): Show |
71 | 121 | 0.5868 | -12 | c.461 others(27): Show |
U2AF1L4 | ENSG00000161265.15 | transcript | ENST00000378975.8 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
UACA_chr15_70649554_70768558 | 70653140 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0220 | 1 | 60 | 0.0167 | -12 | c.*39 others(23): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1413 | chr15 | TogoVar | |||||||
UACA_chr15_70649554_70768558 | 70739467 | AAAGGGAT others(5): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0296 | 1 | 308 | 0.0032 | -12 | c.78+ others(29): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | |||||||
UAP1_chr1_162556722_162606240 | 162577435 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 236 | 0.0042 | -12 | c.485 others(27): Show |
UAP1 | ENSG00000117143.14 | transcript | ENST00000367925.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UAP1_chr1_162556722_162606240 | 162599225 | CAAGTGCA others(5): Show |
C | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0208 | 1 | 410 | 0.0024 | -12 | c.147 others(27): Show |
UAP1 | ENSG00000117143.14 | transcript | ENST00000367925.6 | protein_coding | 10/10 | chr1 | TogoVar | |||||||
UBA2_chr19_34423381_34476251 | 34446608 | CTTTCTTT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(175): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(165): Show |
178 | 316 | 0.5633 | -12 | c.771 others(29): Show |
UBA2 | ENSG00000126261.13 | transcript | ENST00000246548.9 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UBA2_chr19_34423381_34476251 | 34451536 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG02976.hp2 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 a0001c0001t0001g0281 |
2 | 138 | 0.0145 | -12 | c.872 others(27): Show |
UBA2 | ENSG00000126261.13 | transcript | ENST00000246548.9 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UBA2_chr19_34423381_34476251 | 34458558 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02896.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0002 | a0001c0001t0001g0261 a0001c0001t0007g0253 a0001c0001t0007g0254 others(1): Show |
4 | 9 | 0.4444 | -12 | c.124 others(29): Show |
UBA2 | ENSG00000126261.13 | transcript | ENST00000246548.9 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UBA6_chr4_67607652_67706155 | 67686952 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG01070.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0008a0001c0002t0022others(1): Show | a0001c0002t0003g0024 a0001c0002t0003g0042 a0001c0002t0003g0055 others(5): Show |
8 | 31 | 0.2581 | -12 | c.135 others(29): Show |
UBA6 | ENSG00000033178.13 | transcript | ENST00000322244.10 | protein_coding | 2/32 | chr4 | TogoVar | |||||||
UBAC2_chr13_99195854_99391504 | 99216082 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG03139.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0226 a0001c0001t0001g0232 a0001c0001t0002g0322 |
3 | 45 | 0.0667 | -12 | c.31+ others(29): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99234171 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03710.hp2 NA18944.hp1 NA18947.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0094 a0001c0001t0004g0289 a0001c0001t0004g0290 others(5): Show |
8 | 102 | 0.0784 | -12 | c.32- others(27): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99262710 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 39 | 0.0256 | -12 | c.389 others(31): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99280830 | CCTCTCTC others(5): Show |
C | intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0085 | 1 | 209 | 0.0048 | -12 | c.390 others(31): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99283713 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(53): Show |
56 | 64 | 0.8750 | -12 | c.390 others(31): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99338039 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01109.hp2 NA18961.hp1 NA19011.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0004a0003c0003t0004 | a0001c0001t0001g0277 a0001c0001t0004g0294 a0003c0003t0004g0300 |
3 | 246 | 0.0122 | -12 | c.562 others(29): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBALD1_chr16_4603884_4619888 | 4616455 | GGCCGGGG others(5): Show |
G | upstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 338 | 0.0030 | -12 | c.-16 others(23): Show |
UBALD1 | ENSG00000153443.13 | transcript | ENST00000283474.12 | protein_coding | 1568 | chr16 | TogoVar | |||||||
UBAP1L_chr15_65087760_65120200 | 65091078 | GGCTGTAG others(5): Show |
G | downstream_gene_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0116 | 1 | 230 | 0.0043 | -12 | c.*20 others(23): Show |
UBAP1L | ENSG00000246922.10 | transcript | ENST00000559089.6 | protein_coding | 1681 | chr15 | TogoVar | |||||||
UBAP1_chr9_34174043_34257523 | 34182160 | GTTTATTT others(5): Show |
G | intron_variant | MODIFIER | HG01496.hp1 HG03225.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 |
3 | 232 | 0.0129 | -12 | c.-8+ others(27): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34182616 | CTTCTTTC others(5): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01884.hp1 HG01993.hp2 others(6): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0128 a0001c0001t0003g0171 a0001c0001t0003g0172 others(6): Show |
9 | 264 | 0.0341 | -12 | c.-8+ others(27): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34196898 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0161 | 1 | 71 | 0.0141 | -12 | c.-8+ others(29): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34202624 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0339 | 1 | 20 | 0.0500 | -12 | c.-7- others(29): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34220094 | CCCCTCCC others(5): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01261.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0296 a0001c0001t0004g0312 a0001c0001t0004g0315 others(8): Show |
11 | 340 | 0.0324 | -12 | c.-7- others(25): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34231127 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00621.hp2 others(40): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0138 a0001c0001t0002g0163 a0001c0001t0002g0214 others(40): Show |
43 | 72 | 0.5972 | -12 | c.35- others(27): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP2_chr9_33916693_34053887 | 33939816 | AGGAGGAA others(5): Show |
A | intron_variant | MODIFIER | HG03041.hp1 HG03486.hp1 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0052 a0002c0001t0002g0066 |
2 | 319 | 0.0063 | -12 | c.192 others(31): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 16/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 33951332 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00609.hp2 others(52): Show |
a0001a0002a0009 | a0001c0002a0002c0001a0002c0013others(3): Show | a0001c0002t0001a0002c0001t0002a0002c0001t0003others(4): Show | a0001c0002t0001g0165 a0002c0001t0002g0045 a0002c0001t0002g0080 others(52): Show |
55 | 60 | 0.9167 | -12 | c.105 others(31): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 12/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 33962645 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0302 | 1 | 251 | 0.0040 | -12 | c.745 others(29): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 9/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 33981103 | GATATATA others(5): Show |
G | intron_variant | MODIFIER | NA19077.hp2 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0026 | 1 | 214 | 0.0047 | -12 | c.520 others(29): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 6/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 34016284 | GGAGGAGG others(5): Show |
G | intron_variant | MODIFIER | HG01074.hp1 HG01175.hp2 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0049 a0002c0001t0002g0069 |
2 | 354 | 0.0056 | -12 | c.99+ others(25): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 2/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 34016364 | CAGCGGCG others(5): Show |
C | intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0307 | 1 | 187 | 0.0053 | -12 | c.99+ others(25): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 2/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 34019688 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | NA19060.hp2 NA19077.hp1 NA19091.hp2 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0083 a0002c0001t0002g0088 a0002c0001t0002g0110 |
3 | 81 | 0.0370 | -12 | c.-41 others(29): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 1/28 | chr9 | TogoVar | |||||||
UBASH3A_chr21_42398902_42452684 | 42399354 | TAAAAAAA others(5): Show |
T | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01168.hp1 HG01169.hp2 others(8): Show |
a0001a0002a0005 | a0001c0002a0001c0003a0001c0009others(2): Show | a0001c0002t0002a0001c0003t0002a0001c0009t0001others(2): Show | a0001c0002t0002g0043 a0001c0003t0002g0193 a0001c0009t0001g0190 others(6): Show |
11 | 34 | 0.3235 | -12 | c.-45 others(23): Show |
UBASH3A | ENSG00000160185.15 | transcript | ENST00000319294.11 | protein_coding | 4547 | chr21 | TogoVar | |||||||
UBASH3A_chr21_42398902_42452684 | 42408898 | TAAAATAA others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00738.hp2 others(4): Show |
a0002 | a0002c0010 | a0002c0010t0001a0002c0010t0002 | a0002c0010t0001g0307 a0002c0010t0001g0308 a0002c0010t0001g0309 others(3): Show |
7 | 401 | 0.0175 | -12 | c.168 others(27): Show |
UBASH3A | ENSG00000160185.15 | transcript | ENST00000319294.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UBASH3A_chr21_42398902_42452684 | 42411482 | GATACACA others(5): Show |
G | intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0016 | a0002c0016t0002 | a0002c0016t0002g0155 | 1 | 406 | 0.0025 | -12 | c.355 others(29): Show |
UBASH3A | ENSG00000160185.15 | transcript | ENST00000319294.11 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UBASH3A_chr21_42398902_42452684 | 42436260 | GAGTTATA others(5): Show |
G | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0179 | 1 | 406 | 0.0025 | -12 | c.139 others(31): Show |
UBASH3A | ENSG00000160185.15 | transcript | ENST00000319294.11 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UBASH3B_chr11_122650722_122819473 | 122683743 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | NA19030.hp1 | a0006 | a0006c0024 | a0006c0024t0040 | a0006c0024t0040g0231 | 1 | 223 | 0.0045 | -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 | 122690202 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02559.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0012 | a0001c0001t0006g0106 a0001c0001t0006g0240 a0001c0001t0012g0248 |
3 | 258 | 0.0116 | -12 | c.161 others(31): Show |
UBASH3B | ENSG00000154127.10 | transcript | ENST00000284273.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |