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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UPF3A_chr13_114276601_114310817 | 114278704 | TAA | T | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00639.hp2 others(129): Show |
a0002a0003a0005others(3): Show | a0002c0002a0003c0003a0005c0006others(3): Show | a0002c0002t0001a0002c0002t0008a0002c0002t0010others(6): Show | a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0008 others(117): Show |
132 | 450 | 0.2933 | -2 | c.-29 others(13): Show |
UPF3A | ENSG00000169062.15 | transcript | ENST00000375299.8 | protein_coding | 2896 | chr13 | TogoVar | |||||||
UPF3A_chr13_114276601_114310817 | 114279094 | CAA | C | upstream_gene_variant | MODIFIER | HG03491.hp2 HG03704.hp2 HG03831.hp2 others(4): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0212 others(4): Show |
7 | 450 | 0.0156 | -2 | c.-25 others(13): Show |
UPF3A | ENSG00000169062.15 | transcript | ENST00000375299.8 | protein_coding | 2506 | chr13 | TogoVar | |||||||
UPF3A_chr13_114276601_114310817 | 114280892 | GAA | G | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01496.hp2 others(9): Show |
a0004a0011 | a0004c0004a0011c0009 | a0004c0004t0002a0004c0004t0003a0011c0009t0014 | a0004c0004t0002g0002 a0004c0004t0002g0409 a0004c0004t0002g0410 others(6): Show |
12 | 450 | 0.0267 | -2 | c.-74 others(11): Show |
UPF3A | ENSG00000169062.15 | transcript | ENST00000375299.8 | protein_coding | 708 | chr13 | TogoVar | |||||||
UPF3A_chr13_114276601_114310817 | 114284383 | ATG | A | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01106.hp2 others(38): Show |
a0002a0003a0007others(1): Show | a0002c0002a0003c0003a0007c0005others(1): Show | a0002c0002t0001a0003c0003t0001a0003c0003t0009others(2): Show | a0002c0002t0001g0008 a0002c0002t0001g0015 a0002c0002t0001g0045 others(36): Show |
41 | 450 | 0.0911 | -2 | c.421 others(19): Show |
UPF3A | ENSG00000169062.15 | transcript | ENST00000375299.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UPF3A_chr13_114276601_114310817 | 114288660 | CTG | C | intron_variant | MODIFIER | HG00642.hp2 HG01361.hp1 HG01993.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0243 a0001c0001t0001g0330 others(13): Show |
17 | 450 | 0.0378 | -2 | c.631 others(19): Show |
UPF3A | ENSG00000169062.15 | transcript | ENST00000375299.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UPF3A_chr13_114276601_114310817 | 114293071 | CAA | C | intron_variant | MODIFIER | HG02630.hp2 HG02647.hp2 HG02896.hp1 others(3): Show |
a0002a0006a0018 | a0002c0002a0006c0008a0018c0016 | a0002c0002t0001a0006c0008t0001a0018c0016t0001 | a0002c0002t0001g0026 a0002c0002t0001g0240 a0002c0002t0001g0389 others(2): Show |
6 | 450 | 0.0133 | -2 | c.846 others(19): Show |
UPF3A | ENSG00000169062.15 | transcript | ENST00000375299.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UPF3B_chrX_119829022_119857963 | 119842603 | CAT | C | intron_variant | MODIFIER | HG02896.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0048 a0001c0001t0002g0036 |
2 | 282 | 0.0071 | -2 | c.580 others(17): Show |
UPF3B | ENSG00000125351.14 | transcript | ENST00000276201.7 | protein_coding | 5/10 | chrX | TogoVar | |||||||
UPF3B_chrX_119829022_119857963 | 119846505 | TAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00558.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 others(15): Show |
30 | 282 | 0.1064 | -2 | c.371 others(19): Show |
UPF3B | ENSG00000125351.14 | transcript | ENST00000276201.7 | protein_coding | 3/10 | chrX | TogoVar | |||||||
UPF3B_chrX_119829022_119857963 | 119848661 | GAT | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(155): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0003a0003c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(101): Show |
158 | 282 | 0.5603 | -2 | c.370 others(19): Show |
UPF3B | ENSG00000125351.14 | transcript | ENST00000276201.7 | protein_coding | 3/10 | chrX | TogoVar | |||||||
UPF3B_chrX_119829022_119857963 | 119850069 | GGA | G | intron_variant | MODIFIER | HG02818.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 a0001c0001t0001g0186 |
2 | 282 | 0.0071 | -2 | c.370 others(19): Show |
UPF3B | ENSG00000125351.14 | transcript | ENST00000276201.7 | protein_coding | 3/10 | chrX | TogoVar | |||||||
UPK1A_chr19_35661517_35683481 | 35674241 | CTT | C | intron_variant | MODIFIER | HG00673.hp1 HG01070.hp2 HG02015.hp1 others(21): Show |
a0003 | a0003c0004a0003c0005 | a0003c0004t0002a0003c0005t0002 | a0003c0004t0002g0183 a0003c0005t0002g0004 a0003c0005t0002g0027 others(4): Show |
24 | 420 | 0.0571 | -2 | c.468 others(17): Show |
UPK1A | ENSG00000105668.8 | transcript | ENST00000222275.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UPK1A_chr19_35661517_35683481 | 35681559 | ATT | A | downstream_gene_variant | MODIFIER | HG00741.hp1 HG02486.hp1 HG02559.hp1 others(8): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0008a0003c0004others(2): Show | a0001c0001t0001a0001c0008t0001a0003c0004t0001others(2): Show | a0001c0001t0001g0010 a0001c0001t0001g0053 a0001c0001t0001g0076 others(8): Show |
11 | 420 | 0.0262 | -2 | c.*35 others(13): Show |
UPK1A | ENSG00000105668.8 | transcript | ENST00000222275.3 | protein_coding | 3079 | chr19 | TogoVar | |||||||
UPK1A_chr19_35661517_35683481 | 35682244 | AAT | A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG01891.hp1 HG02109.hp1 others(48): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0009a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0009t0001others(4): Show | a0001c0001t0001g0010 a0001c0001t0001g0053 a0001c0001t0001g0076 others(32): Show |
51 | 420 | 0.1214 | -2 | c.*42 others(13): Show |
UPK1A | ENSG00000105668.8 | transcript | ENST00000222275.3 | protein_coding | 3764 | chr19 | TogoVar | |||||||
UPK1B_chr3_119168598_119210143 | 119175012 | CTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00735.hp2 others(33): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0042 a0001c0001t0001g0046 others(31): Show |
36 | 422 | 0.0853 | -2 | c.-29 others(19): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UPK1B_chr3_119168598_119210143 | 119179352 | GAT | G | intron_variant | MODIFIER | HG01981.hp2 NA18906.hp1 NA18953.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0005 | a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0008t0005g0146 |
3 | 422 | 0.0071 | -2 | c.-29 others(19): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UPK1B_chr3_119168598_119210143 | 119179397 | ATT | A | intron_variant | MODIFIER | HG00408.hp2 HG01169.hp1 HG01496.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(3): Show | a0001c0001t0001g0080 a0001c0001t0001g0098 a0001c0001t0001g0219 others(13): Show |
16 | 422 | 0.0379 | -2 | c.-29 others(19): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
UPK1B_chr3_119168598_119210143 | 119179805 | CTT | C | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG02055.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0054 a0001c0001t0001g0152 others(4): Show |
8 | 422 | 0.0190 | -2 | c.-29 others(19): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UPK1B_chr3_119168598_119210143 | 119196535 | CTT | C | intron_variant | MODIFIER | HG00735.hp1 HG01099.hp2 HG02280.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0028 others(7): Show |
12 | 422 | 0.0284 | -2 | c.648 others(19): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UPK1B_chr3_119168598_119210143 | 119203340 | CAA | C | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp1 HG02886.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0003a0001c0004t0001a0003c0003t0003others(1): Show | a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 others(4): Show |
7 | 422 | 0.0166 | -2 | c.733 others(17): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UPK1B_chr3_119168598_119210143 | 119208784 | TTC | T | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02071.hp1 HG02109.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0021 a0001c0001t0001g0069 a0001c0001t0001g0080 others(3): Show |
6 | 422 | 0.0142 | -2 | c.*48 others(13): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 3642 | chr3 | TogoVar | |||||||
UPK1B_chr3_119168598_119210143 | 119208801 | TCA | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(97): Show |
a0001a0005 | a0001c0001a0001c0008a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0022 others(95): Show |
100 | 422 | 0.2370 | -2 | c.*48 others(13): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 3659 | chr3 | TogoVar | |||||||
UPK2_chr11_118951298_118963559 | 118952967 | GAA | G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00639.hp1 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(4): Show |
47 | 398 | 0.1181 | -2 | c.-33 others(13): Show |
UPK2 | ENSG00000110375.3 | transcript | ENST00000264031.3 | protein_coding | 3330 | chr11 | TogoVar | |||||||
UPK3A_chr22_45279949_45300874 | 45282008 | CAA | C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(173): Show |
a0001a0002a0005others(6): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0086 a0001c0002t0001g0010 others(109): Show |
176 | 444 | 0.3964 | -2 | c.-30 others(13): Show |
UPK3A | ENSG00000100373.10 | transcript | ENST00000216211.9 | protein_coding | 2940 | chr22 | TogoVar | |||||||
UPK3A_chr22_45279949_45300874 | 45283051 | TGC | T | upstream_gene_variant | MODIFIER | HG00323.hp2 HG01069.hp1 HG01106.hp1 others(11): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0001g0051 others(3): Show |
14 | 444 | 0.0315 | -2 | c.-19 others(13): Show |
UPK3A | ENSG00000100373.10 | transcript | ENST00000216211.9 | protein_coding | 1897 | chr22 | TogoVar | |||||||
UPK3A_chr22_45279949_45300874 | 45287428 | CCT | C | frameshift_variant | HIGH | NA19067.hp1 | a0014 | a0014c0023 | a0014c0023t0001 | a0014c0023t0001g0039 | 1 | 444 | 0.0023 | -2 | c.466 others(9): Show |
p.Leu others(5): Show |
UPK3A | ENSG00000100373.10 | transcript | ENST00000216211.9 | protein_coding | 3/6 | 531/1084 | 466/864 | 156/287 | chr22 | TogoVar | |||
UPK3A_chr22_45279949_45300874 | 45289577 | CAA | C | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00597.hp1 others(58): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0005others(7): Show | a0001c0002t0001a0001c0003t0001a0001c0005t0001others(7): Show | a0001c0002t0001g0018 a0001c0002t0001g0025 a0001c0002t0001g0093 others(37): Show |
61 | 444 | 0.1374 | -2 | c.571 others(17): Show |
UPK3A | ENSG00000100373.10 | transcript | ENST00000216211.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
UPK3A_chr22_45279949_45300874 | 45291609 | CTG | C | intron_variant | MODIFIER | HG00558.hp2 HG01257.hp2 HG02559.hp2 others(21): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0207 a0001c0002t0001g0095 a0001c0002t0002g0212 others(11): Show |
24 | 444 | 0.0541 | -2 | c.572 others(19): Show |
UPK3A | ENSG00000100373.10 | transcript | ENST00000216211.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
UPK3A_chr22_45279949_45300874 | 45291794 | ATG | A | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02280.hp2 others(5): Show |
a0001a0003 | a0001c0003a0001c0013a0003c0009 | a0001c0003t0001a0001c0013t0002a0003c0009t0001 | a0001c0003t0001g0031 a0001c0003t0001g0058 a0001c0003t0001g0073 others(3): Show |
8 | 444 | 0.0180 | -2 | c.572 others(19): Show |
UPK3A | ENSG00000100373.10 | transcript | ENST00000216211.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
UPK3BL1_chr7_102632025_102647791 | 102633431 | CAA | C | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02280.hp1 HG02886.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0005a0001c0001t0013others(4): Show | a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0005g0013 others(9): Show |
12 | 140 | 0.0857 | -2 | c.*40 others(13): Show |
UPK3BL1 | ENSG00000267368.1 | transcript | ENST00000340457.8 | protein_coding | 3593 | chr7 | TogoVar | |||||||
UPK3BL1_chr7_102632025_102647791 | 102636173 | AAC | A | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01074.hp1 others(23): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0003c0004others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(6): Show | a0001c0001t0003g0042 a0001c0001t0004g0004 a0001c0001t0004g0005 others(16): Show |
26 | 140 | 0.1857 | -2 | c.*13 others(13): Show |
UPK3BL1 | ENSG00000267368.1 | transcript | ENST00000340457.8 | protein_coding | 851 | chr7 | TogoVar | |||||||
UPK3BL1_chr7_102632025_102647791 | 102637385 | CAA | C | 3_prime_UTR_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01256.hp1 others(18): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0014a0001c0003t0003others(1): Show | a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0042 others(12): Show |
21 | 140 | 0.1500 | -2 | c.*13 others(11): Show |
UPK3BL1 | ENSG00000267368.1 | transcript | ENST00000340457.8 | protein_coding | 6/6 | 138 | chr7 | TogoVar | ||||||
UPK3BL1_chr7_102632025_102647791 | 102637403 | AAT | A | 3_prime_UTR_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01255.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0020 | a0001c0001t0007g0011 a0001c0001t0007g0012 a0001c0001t0007g0041 others(2): Show |
7 | 140 | 0.0500 | -2 | c.*12 others(11): Show |
UPK3BL1 | ENSG00000267368.1 | transcript | ENST00000340457.8 | protein_coding | 6/6 | 120 | chr7 | TogoVar | ||||||
UPK3BL1_chr7_102632025_102647791 | 102642136 | AAG | A | intron_variant | MODIFIER | HG00642.hp2 HG01069.hp2 HG01255.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0035 a0001c0001t0002g0010 a0002c0002t0002g0002 others(10): Show |
20 | 140 | 0.1429 | -2 | c.112 others(17): Show |
UPK3BL1 | ENSG00000267368.1 | transcript | ENST00000340457.8 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
UPK3BL1_chr7_102632025_102647791 | 102643243 | AAC | A | upstream_gene_variant | MODIFIER | HG01175.hp2 HG02004.hp2 HG02895.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0019 a0001c0001t0001g0076 a0001c0001t0004g0004 others(6): Show |
10 | 140 | 0.0714 | -2 | c.-50 others(11): Show |
UPK3BL1 | ENSG00000267368.1 | transcript | ENST00000340457.8 | protein_coding | 453 | chr7 | TogoVar | |||||||
UPK3BL2_chr7_102532919_102548696 | 102534943 | GAA | G | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01071.hp2 HG02004.hp2 others(3): Show |
a0001a0011 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0008a0001c0003t0008a0001c0006t0008others(1): Show | a0001c0001t0008g0076 a0001c0001t0008g0091 a0001c0003t0008g0026 others(3): Show |
6 | 182 | 0.0330 | -2 | c.*34 others(13): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 2975 | chr7 | TogoVar | |||||||
UPK3BL2_chr7_102532919_102548696 | 102537068 | AAC | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(96): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(21): Show | a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0086 others(72): Show |
99 | 182 | 0.5440 | -2 | c.*13 others(13): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 850 | chr7 | TogoVar | |||||||
UPK3BL2_chr7_102532919_102548696 | 102537256 | CAA | C | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00544.hp2 others(48): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0011others(8): Show | a0001c0001t0002g0002 a0001c0001t0002g0048 a0001c0001t0002g0056 others(34): Show |
51 | 182 | 0.2802 | -2 | c.*11 others(13): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 662 | chr7 | TogoVar | |||||||
UPK3BL2_chr7_102532919_102548696 | 102543681 | CCT | C | 5_prime_UTR_variant | MODIFIER | HG00280.hp1 HG01169.hp1 HG01517.hp1 others(15): Show |
a0001a0006a0013 | a0001c0001a0006c0009a0013c0019 | a0001c0001t0005a0001c0001t0021a0001c0001t0022others(3): Show | a0001c0001t0005g0008 a0001c0001t0005g0124 a0001c0001t0005g0126 others(13): Show |
18 | 182 | 0.0989 | -2 | c.-47 others(9): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 1/6 | 46 | chr7 | TogoVar | ||||||
UPK3B_chr7_76505552_76521522 | 76509032 | CAA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp1 others(142): Show |
a0002a0007a0010others(2): Show | a0002c0002a0002c0012a0007c0011others(3): Show | a0002c0002t0002a0002c0002t0010a0002c0002t0011others(5): Show | a0002c0002t0002g0001 a0002c0002t0002g0003 a0002c0002t0002g0008 others(26): Show |
145 | 340 | 0.4265 | -2 | c.-16 others(13): Show |
UPK3B | ENSG00000243566.7 | transcript | ENST00000334348.8 | protein_coding | 1519 | chr7 | TogoVar | |||||||
UPK3B_chr7_76505552_76521522 | 76511595 | CCA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00639.hp2 others(66): Show |
a0001a0002a0004others(5): Show | a0001c0001a0002c0002a0004c0014others(5): Show | a0001c0001t0001a0002c0002t0002a0004c0014t0001others(5): Show | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0017 others(20): Show |
69 | 340 | 0.2029 | -2 | c.236 others(15): Show |
UPK3B | ENSG00000243566.7 | transcript | ENST00000334348.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UPP1_chr7_48084265_48113736 | 48084401 | CAA | C | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02451.hp2 HG02630.hp1 others(7): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0008 a0001c0001t0001g0073 a0001c0001t0001g0074 others(2): Show |
10 | 428 | 0.0234 | -2 | c.-52 others(13): Show |
UPP1 | ENSG00000183696.14 | transcript | ENST00000395564.9 | protein_coding | 4863 | chr7 | TogoVar | |||||||
UPP2_chr2_158096876_158141154 | 158108887 | CGT | C | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG00673.hp2 others(39): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0009 a0001c0001t0001g0026 a0001c0001t0001g0032 others(27): Show |
42 | 342 | 0.1228 | -2 | c.180 others(19): Show |
UPP2 | ENSG00000007001.13 | transcript | ENST00000005756.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UPRT_chrX_75269085_75309885 | 75272285 | TAC | T | upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0039 | 1 | 257 | 0.0039 | -2 | c.-19 others(13): Show |
UPRT | ENSG00000094841.14 | transcript | ENST00000373383.9 | protein_coding | 1799 | chrX | TogoVar | |||||||
UPRT_chrX_75269085_75309885 | 75272330 | GTA | G | upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 257 | 0.0039 | -2 | c.-19 others(13): Show |
UPRT | ENSG00000094841.14 | transcript | ENST00000373383.9 | protein_coding | 1754 | chrX | TogoVar | |||||||
UPRT_chrX_75269085_75309885 | 75272343 | TAC | T | upstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0055 | 1 | 257 | 0.0039 | -2 | c.-19 others(13): Show |
UPRT | ENSG00000094841.14 | transcript | ENST00000373383.9 | protein_coding | 1741 | chrX | TogoVar | |||||||
UPRT_chrX_75269085_75309885 | 75272360 | GTA | G | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02717.hp1 HG02886.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0051 others(5): Show |
8 | 257 | 0.0311 | -2 | c.-18 others(13): Show |
UPRT | ENSG00000094841.14 | transcript | ENST00000373383.9 | protein_coding | 1724 | chrX | TogoVar | |||||||
UPRT_chrX_75269085_75309885 | 75274775 | GGT | G | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00609.hp1 others(97): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0013 others(40): Show |
100 | 257 | 0.3891 | -2 | c.386 others(17): Show |
UPRT | ENSG00000094841.14 | transcript | ENST00000373383.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
UPRT_chrX_75269085_75309885 | 75289443 | GAA | G | intron_variant | MODIFIER | HG01109.hp1 HG02809.hp1 NA20905.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0096 others(1): Show |
4 | 257 | 0.0156 | -2 | c.387 others(19): Show |
UPRT | ENSG00000094841.14 | transcript | ENST00000373383.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
UPRT_chrX_75269085_75309885 | 75291035 | CTT | C | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 257 | 0.0039 | -2 | c.387 others(19): Show |
UPRT | ENSG00000094841.14 | transcript | ENST00000373383.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
UQCC1_chr20_35297578_35416973 | 35310644 | CAA | C | intron_variant | MODIFIER | HG01167.hp2 HG02280.hp2 HG02698.hp2 others(15): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0005a0004c0004t0001 | a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0145 others(15): Show |
18 | 256 | 0.0703 | -2 | c.652 others(19): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 8/9 | chr20 | TogoVar |