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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UBXN2B_chr8_58406361_58456501 | 58446779 | ATTTTTTT others(13): Show |
A | intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0221 | 1 | 49 | 0.0204 | -20 | c.834 others(35): Show |
UBXN2B | ENSG00000215114.10 | transcript | ENST00000399598.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UBXN4_chr2_135736855_135790056 | 135750835 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG01928.hp2 HG02683.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0002a0001c0002t0002a0001c0008t0002 | a0001c0001t0002g0230 a0001c0001t0002g0269 a0001c0002t0002g0234 others(3): Show |
6 | 18 | 0.3333 | -20 | c.185 others(37): Show |
UBXN4 | ENSG00000144224.17 | transcript | ENST00000272638.14 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UBXN7_chr3_196342662_196437427 | 196363231 | CATACATA others(13): Show |
C | intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 272 | 0.0037 | -20 | c.835 others(35): Show |
UBXN7 | ENSG00000163960.12 | transcript | ENST00000296328.9 | protein_coding | 8/10 | chr3 | TogoVar | |||||||
UBXN7_chr3_196342662_196437427 | 196375004 | GAGGAAGG others(13): Show |
G | intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0123 | 1 | 77 | 0.0130 | -20 | c.469 others(37): Show |
UBXN7 | ENSG00000163960.12 | transcript | ENST00000296328.9 | protein_coding | 5/10 | chr3 | TogoVar | |||||||
UBXN8_chr8_30739164_30772006 | 30759968 | TAAATAAA others(13): Show |
T | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 161 | 0.0062 | -20 | c.529 others(35): Show |
UBXN8 | ENSG00000104691.16 | transcript | ENST00000265616.10 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UCK2_chr1_165822614_165916618 | 165854598 | AAAATAAA others(13): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0167 | 1 | 101 | 0.0099 | -20 | c.99+ others(37): Show |
UCK2 | ENSG00000143179.16 | transcript | ENST00000367879.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UCP2_chr11_73969672_73987843 | 73986518 | GTTTTTTT others(13): Show |
G | upstream_gene_variant | MODIFIER | HG02717.hp2 NA19030.hp1 |
a0002 | a0002c0002a0002c0006 | a0002c0002t0001a0002c0006t0016 | a0002c0002t0001g0059 a0002c0006t0016g0046 |
2 | 129 | 0.0155 | -20 | c.-40 others(31): Show |
UCP2 | ENSG00000175567.11 | transcript | ENST00000663595.2 | protein_coding | 3676 | chr11 | TogoVar | |||||||
UEVLD_chr11_18524609_18593734 | 18560120 | CACACACA others(13): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG01496.hp2 HG02258.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0002a0002c0006t0002 | a0001c0001t0002g0004 a0001c0001t0002g0141 a0001c0001t0002g0147 others(6): Show |
10 | 397 | 0.0252 | -20 | c.613 others(37): Show |
UEVLD | ENSG00000151116.17 | transcript | ENST00000396197.8 | protein_coding | 6/11 | chr11 | TogoVar | |||||||
UFL1_chr6_96516806_96560276 | 96521682 | GAACCCCC others(13): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00741.hp2 others(52): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005a0001c0002t0008others(1): Show | a0001c0002t0002g0002 a0001c0002t0002g0019 a0001c0002t0002g0020 others(17): Show |
55 | 380 | 0.1447 | -20 | c.-19 others(29): Show |
UFL1 | ENSG00000014123.10 | transcript | ENST00000369278.5 | protein_coding | 123 | chr6 | TogoVar | |||||||
UFSP1_chr7_100883721_100894715 | 100889741 | GCCCCTCC others(13): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(141): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(1): Show | a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0004t0001g0000 others(1): Show |
144 | 372 | 0.3871 | -20 | c.-49 others(29): Show |
UFSP1 | ENSG00000176125.7 | transcript | ENST00000388761.4 | protein_coding | 27 | chr7 | TogoVar | |||||||
UGCG_chr9_111891814_111940369 | 111911905 | GATATATA others(13): Show |
G | intron_variant | MODIFIER | HG02970.hp1 HG03041.hp1 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0362 a0001c0002t0006g0363 |
2 | 152 | 0.0132 | -20 | c.99- others(35): Show |
UGCG | ENSG00000148154.10 | transcript | ENST00000374279.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UGGT1_chr2_128086200_128200677 | 128169048 | TAAAAAAA others(13): Show |
T | intron_variant | MODIFIER | HG02135.hp2 NA18980.hp1 NA18991.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0018a0001c0001t0056a0001c0001t0062others(1): Show | a0001c0001t0018g0092 a0001c0001t0056g0113 a0001c0001t0062g0098 others(1): Show |
4 | 29 | 0.1379 | -20 | c.292 others(39): Show |
UGGT1 | ENSG00000136731.13 | transcript | ENST00000259253.11 | protein_coding | 26/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGGT1_chr2_128086200_128200677 | 128198831 | CTCAACTA others(13): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0078 | 1 | 330 | 0.0030 | -20 | c.*90 others(31): Show |
UGGT1 | ENSG00000136731.13 | transcript | ENST00000259253.11 | protein_coding | 3155 | chr2 | TogoVar | |||||||
UGGT2_chr13_95796580_96058401 | 95914612 | TAAAAAAA others(13): Show |
T | intron_variant | MODIFIER | HG02886.hp1 HG02895.hp2 HG02922.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0003a0003c0009 | a0001c0001t0001a0003c0003t0001a0003c0009t0002 | a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 others(4): Show |
7 | 24 | 0.2917 | -20 | c.229 others(41): Show |
UGGT2 | ENSG00000102595.22 | transcript | ENST00000376747.8 | protein_coding | 20/38 | chr13 | TogoVar | |||||||
UGT1A10_chr2_233631448_233778300 | 233700676 | GTGATAAT others(13): Show |
G | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 299 | 0.0033 | -20 | c.855 others(39): Show |
UGT1A10 | ENSG00000242515.6 | transcript | ENST00000344644.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A6_chr2_233687890_233778300 | 233700676 | GTGATAAT others(13): Show |
G | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0208 | 1 | 329 | 0.0030 | -20 | c.861 others(37): Show |
UGT1A6 | ENSG00000167165.19 | transcript | ENST00000305139.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A7_chr2_233676901_233778300 | 233700676 | GTGATAAT others(13): Show |
G | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0194 | 1 | 317 | 0.0032 | -20 | c.855 others(39): Show |
UGT1A7 | ENSG00000244122.3 | transcript | ENST00000373426.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A8_chr2_233612633_233778300 | 233700676 | GTGATAAT others(13): Show |
G | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0258 | 1 | 287 | 0.0035 | -20 | c.856 others(39): Show |
UGT1A8 | ENSG00000242366.4 | transcript | ENST00000373450.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A9_chr2_233666898_233778300 | 233700676 | GTGATAAT others(13): Show |
G | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0202 | 1 | 315 | 0.0032 | -20 | c.855 others(39): Show |
UGT1A9 | ENSG00000241119.2 | transcript | ENST00000354728.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT2A1_chr4_69583417_69658247 | 69627456 | ACAGGCAA others(13): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(115): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(11): Show | a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 others(108): Show |
118 | 374 | 0.3155 | -20 | c.847 others(37): Show |
UGT2A1 | ENSG00000173610.13 | transcript | ENST00000286604.9 | protein_coding | 3/6 | chr4 | TogoVar | |||||||
UGT2A2_chr4_69583417_69644642 | 69627456 | ACAGGCAA others(13): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(117): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0003c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0015 others(91): Show |
120 | 376 | 0.3191 | -20 | c.742 others(39): Show |
UGT2A2 | ENSG00000271271.6 | transcript | ENST00000604629.6 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
UGT2A3_chr4_68923463_68956804 | 68942504 | GATATATA others(13): Show |
G | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0003 | a0001c0003t0018 | a0001c0003t0018g0071 | 1 | 45 | 0.0222 | -20 | c.864 others(37): Show |
UGT2A3 | ENSG00000135220.11 | transcript | ENST00000251566.9 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
UGT3A2_chr5_36030021_36071882 | 36058939 | ACCTGCAG others(13): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 a0001c0001t0001g0146 |
2 | 408 | 0.0049 | -20 | c.196 others(37): Show |
UGT3A2 | ENSG00000168671.10 | transcript | ENST00000282507.8 | protein_coding | 2/6 | chr5 | TogoVar | |||||||
UGT8_chr4_114593807_114683225 | 114611427 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02895.hp2 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0009 | a0001c0001t0008g0204 a0001c0001t0008g0205 a0001c0001t0008g0206 others(1): Show |
4 | 278 | 0.0144 | -20 | c.-2- others(37): Show |
UGT8 | ENSG00000174607.11 | transcript | ENST00000310836.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
UHRF2_chr9_6408199_6512054 | 6428533 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 15 | 0.0667 | -20 | c.385 others(37): Show |
UHRF2 | ENSG00000147854.17 | transcript | ENST00000276893.10 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UHRF2_chr9_6408199_6512054 | 6488251 | TAAAAAAA others(13): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG02572.hp1 HG02647.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0084 others(3): Show |
6 | 9 | 0.6667 | -20 | c.149 others(39): Show |
UHRF2 | ENSG00000147854.17 | transcript | ENST00000276893.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UIMC1_chr5_176900006_177011779 | 176911112 | GAAGAAAA others(13): Show |
G | intron_variant | MODIFIER | HG02922.hp2 HG02976.hp1 HG02976.hp2 others(2): Show |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0003 | a0003c0004t0001g0171 a0003c0004t0001g0179 a0003c0004t0001g0191 others(2): Show |
5 | 196 | 0.0255 | -20 | c.167 others(37): Show |
UIMC1 | ENSG00000087206.17 | transcript | ENST00000511320.6 | protein_coding | 11/14 | chr5 | TogoVar | |||||||
ULK1_chr12_131889622_131928150 | 131917199 | GGAGGCTG others(13): Show |
G | intron_variant | MODIFIER | HG02523.hp2 HG02895.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0006 | a0001c0002t0001g0066 a0001c0003t0006g0238 |
2 | 340 | 0.0059 | -20 | c.218 others(37): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917212 | TGGGGCTC others(13): Show |
T | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0067 | 1 | 300 | 0.0033 | -20 | c.218 others(37): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ULK4_chr3_41241599_41967103 | 41300837 | TTATATAT others(13): Show |
T | intron_variant | MODIFIER | HG01169.hp2 HG01891.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0006 | a0001c0001t0001g0055 a0003c0003t0006g0058 |
2 | 19 | 0.1053 | -20 | c.367 others(41): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 35/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41323391 | AACACACA others(13): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG03486.hp1 |
a0003a0016 | a0003c0016a0016c0015 | a0003c0016t0001a0016c0015t0001 | a0003c0016t0001g0057 a0016c0015t0001g0005 |
2 | 10 | 0.2000 | -20 | c.367 others(41): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 35/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41531454 | GGGAGGGG others(13): Show |
G | intron_variant | MODIFIER | HG01934.hp2 HG02622.hp1 HG02970.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0001g0051 others(1): Show |
4 | 70 | 0.0571 | -20 | c.322 others(41): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 32/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41531464 | GGGAGGGG others(13): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02970.hp2 HG03486.hp2 others(3): Show |
a0002a0004a0005others(1): Show | a0002c0009a0004c0002a0005c0006others(1): Show | a0002c0009t0002a0004c0002t0005a0005c0006t0004others(1): Show | a0002c0009t0002g0012 a0004c0002t0005g0067 a0005c0006t0004g0001 others(3): Show |
6 | 33 | 0.1818 | -20 | c.322 others(41): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 32/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41602251 | AAAAGGAA others(13): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02572.hp1 HG02615.hp1 |
a0001a0005 | a0001c0001a0005c0013 | a0001c0001t0001a0005c0013t0002 | a0001c0001t0001g0030 a0001c0001t0001g0032 a0005c0013t0002g0016 |
3 | 13 | 0.2308 | -20 | c.312 others(41): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 31/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41864346 | CTGTTTTG others(13): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG01109.hp2 others(24): Show |
a0002a0004a0005others(6): Show | a0002c0004a0002c0009a0004c0002others(8): Show | a0002c0004t0002a0002c0009t0002a0004c0002t0001others(10): Show | a0002c0004t0002g0014 a0002c0004t0002g0015 a0002c0004t0002g0017 others(24): Show |
27 | 40 | 0.6750 | -20 | c.165 others(41): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 17/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41891206 | CGGGGAAA others(13): Show |
C | intron_variant | MODIFIER | HG02165.hp2 | a0017 | a0017c0012 | a0017c0012t0001 | a0017c0012t0001g0063 | 1 | 59 | 0.0169 | -20 | c.157 others(39): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 16/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41891213 | AGAAGGGA others(13): Show |
A | intron_variant | MODIFIER | HG01515.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0060 | 1 | 58 | 0.0172 | -20 | c.157 others(39): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 16/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41917988 | AAAATAAA others(13): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp2 HG01071.hp1 others(32): Show |
a0001a0006a0012others(5): Show | a0001c0001a0006c0007a0012c0020others(5): Show | a0001c0001t0001a0001c0001t0003a0006c0007t0001others(6): Show | a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 others(32): Show |
35 | 50 | 0.7000 | -20 | c.727 others(35): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 7/36 | chr3 | TogoVar | |||||||
UMAD1_chr7_7635752_7884223 | 7643715 | AAAAAAAA others(13): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG01255.hp2 HG01993.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0013 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0007g0105 others(1): Show |
4 | 248 | 0.0161 | -20 | c.-64 others(37): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7847100 | AAAAAATA others(13): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0036a0001c0001t0076 | a0001c0001t0027g0232 a0001c0001t0036g0163 a0001c0001t0076g0218 |
3 | 229 | 0.0131 | -20 | c.157 others(39): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7847104 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | HG03041.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0039 | a0001c0001t0027g0221 a0001c0001t0039g0160 |
2 | 201 | 0.0100 | -20 | c.157 others(39): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7864602 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0043 | 1 | 25 | 0.0400 | -20 | c.157 others(39): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42077002 | GGTGTGTG others(13): Show |
G | intron_variant | MODIFIER | HG06807.hp2 NA18939.hp1 |
a0009a0047 | a0009c0017a0047c0037 | a0009c0017t0006a0047c0037t0001 | a0009c0017t0006g0328 a0047c0037t0001g0372 |
2 | 33 | 0.0606 | -20 | c.319 others(35): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42143656 | TCAGCCTC others(13): Show |
T | downstream_gene_variant | MODIFIER | NA18953.hp2 | a0007 | a0007c0006 | a0007c0006t0029 | a0007c0006t0029g0065 | 1 | 398 | 0.0025 | -20 | c.*15 others(31): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 661 | chr21 | TogoVar | |||||||
UMOD_chr16_20328051_20357715 | 20345476 | TTCCTTCC others(13): Show |
T | intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0065 | 1 | 397 | 0.0025 | -20 | c.118 others(37): Show |
UMOD | ENSG00000169344.16 | transcript | ENST00000396138.9 | protein_coding | 5/10 | chr16 | TogoVar | |||||||
UMPS_chr3_124725452_124754273 | 124726844 | CAAAAAAA others(13): Show |
C | upstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0051 | 1 | 55 | 0.0182 | -20 | c.-36 others(31): Show |
UMPS | ENSG00000114491.14 | transcript | ENST00000232607.7 | protein_coding | 3607 | chr3 | TogoVar | |||||||
UMPS_chr3_124725452_124754273 | 124746755 | TTGTGTGT others(13): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00735.hp2 HG01074.hp2 HG01255.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0041a0001c0001t0073 | a0001c0001t0023g0022 a0001c0001t0023g0035 a0001c0001t0041g0022 others(1): Show |
7 | 14 | 0.5000 | -20 | c.*26 others(31): Show |
UMPS | ENSG00000114491.14 | transcript | ENST00000232607.7 | protein_coding | 6/6 | 2694 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
UMPS_chr3_124725452_124754273 | 124749372 | GATTTATT others(13): Show |
G | downstream_gene_variant | MODIFIER | HG03704.hp2 | a0003 | a0003c0008 | a0003c0008t0008 | a0003c0008t0008g0006 | 1 | 135 | 0.0074 | -20 | c.*52 others(31): Show |
UMPS | ENSG00000114491.14 | transcript | ENST00000232607.7 | protein_coding | 100 | chr3 | TogoVar | |||||||
UNC13B_chr9_35157009_35410335 | 35328650 | TCCTTCCT others(13): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG03516.hp2 NA18998.hp2 |
a0006a0007 | a0006c0008a0007c0025 | a0006c0008t0002a0007c0025t0001 | a0006c0008t0002g0011 a0006c0008t0002g0025 a0007c0025t0001g0190 |
3 | 222 | 0.0135 | -20 | c.941 others(41): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 11/39 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54109330 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG02132.hp1 HG02155.hp1 HG03017.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0012others(1): Show | a0001c0001t0019a0001c0003t0009a0001c0012t0017others(1): Show | a0001c0001t0019g0042 a0001c0003t0009g0110 a0001c0012t0017g0109 others(1): Show |
4 | 156 | 0.0256 | -20 | c.298 others(41): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |