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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UNK_chr17_75779806_75830799 | 75782993 | T | TTAA | upstream_gene_variant | MODIFIER | HG02559.hp2 HG02818.hp1 HG02970.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0008a0001c0002t0001a0001c0003t0004others(3): Show | a0001c0001t0008g0271 a0001c0002t0001g0233 a0001c0003t0004g0114 others(4): Show |
7 | 135 | 0.0519 | 3 | c.-18 others(14): Show |
UNK | ENSG00000132478.10 | transcript | ENST00000589666.6 | protein_coding | 1812 | chr17 | TogoVar | |||||||
UNK_chr17_75779806_75830799 | 75802242 | C | CTTT | intron_variant | MODIFIER | HG00673.hp2 HG01074.hp1 HG02015.hp2 others(25): Show |
a0001a0002 | a0001c0003a0001c0005a0001c0006others(2): Show | a0001c0003t0002a0001c0005t0001a0001c0006t0013others(2): Show | a0001c0003t0002g0004 a0001c0003t0002g0010 a0001c0003t0002g0085 others(22): Show |
28 | 35 | 0.8000 | 3 | c.105 others(20): Show |
UNK | ENSG00000132478.10 | transcript | ENST00000589666.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
UNK_chr17_75779806_75830799 | 75814489 | C | CAAA | intron_variant | MODIFIER | HG01361.hp1 HG01978.hp1 HG02280.hp1 others(7): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0003 | a0001c0001t0001g0037 a0001c0001t0001g0122 a0001c0001t0001g0140 others(7): Show |
10 | 151 | 0.0662 | 3 | c.876 others(18): Show |
UNK | ENSG00000132478.10 | transcript | ENST00000589666.6 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
UPB1_chr22_24490332_24533390 | 24504723 | C | CTTT | intron_variant | MODIFIER | HG02074.hp1 HG02155.hp2 HG03704.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0003t0016others(1): Show | a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 others(3): Show |
6 | 130 | 0.0462 | 3 | c.364 others(20): Show |
UPB1 | ENSG00000100024.15 | transcript | ENST00000326010.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
UPB1_chr22_24490332_24533390 | 24511612 | A | ATTT | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00558.hp2 others(17): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(1): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0084 others(13): Show |
20 | 349 | 0.0573 | 3 | c.459 others(18): Show |
UPB1 | ENSG00000100024.15 | transcript | ENST00000326010.10 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
UPB1_chr22_24490332_24533390 | 24511614 | A | ATTT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(65): Show |
a0001 | a0001c0001a0001c0006a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0018 others(55): Show |
68 | 322 | 0.2112 | 3 | c.459 others(18): Show |
UPB1 | ENSG00000100024.15 | transcript | ENST00000326010.10 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
UPB1_chr22_24490332_24533390 | 24511616 | A | ATTT | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00609.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0026 others(17): Show |
23 | 237 | 0.0970 | 3 | c.459 others(18): Show |
UPB1 | ENSG00000100024.15 | transcript | ENST00000326010.10 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
UPB1_chr22_24490332_24533390 | 24521179 | C | CAAA | intron_variant | MODIFIER | HG01070.hp1 HG01109.hp1 HG02615.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0008a0001c0001t0027others(5): Show | a0001c0001t0005g0163 a0001c0001t0008g0015 a0001c0001t0008g0034 others(8): Show |
14 | 222 | 0.0631 | 3 | c.873 others(18): Show |
UPB1 | ENSG00000100024.15 | transcript | ENST00000326010.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
UPF1_chr19_18826959_18873230 | 18843518 | G | GTTT | intron_variant | MODIFIER | HG01884.hp2 HG01981.hp2 HG02055.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0015 | a0001c0001t0001g0021 a0001c0001t0001g0044 a0001c0001t0001g0092 others(15): Show |
20 | 97 | 0.2062 | 3 | c.232 others(20): Show |
UPF1 | ENSG00000005007.14 | transcript | ENST00000262803.10 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UPF1_chr19_18826959_18873230 | 18864733 | G | GTTT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp2 others(106): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0011 others(74): Show |
109 | 179 | 0.6089 | 3 | c.285 others(20): Show |
UPF1 | ENSG00000005007.14 | transcript | ENST00000262803.10 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UPF1_chr19_18826959_18873230 | 18869245 | T | TGCC | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG01123.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0136 a0001c0001t0002g0071 others(20): Show |
28 | 392 | 0.0714 | 3 | c.*27 others(14): Show |
UPF1 | ENSG00000005007.14 | transcript | ENST00000262803.10 | protein_coding | 1016 | chr19 | TogoVar | |||||||
UPF1_chr19_18826959_18873230 | 18872709 | T | TATA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(169): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0012others(10): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(124): Show |
172 | 392 | 0.4388 | 3 | c.*61 others(14): Show |
UPF1 | ENSG00000005007.14 | transcript | ENST00000262803.10 | protein_coding | 4480 | chr19 | TogoVar | |||||||
UPF2_chr10_11915022_12047809 | 11917460 | A | AGAC | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00609.hp1 others(82): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0080 others(82): Show |
85 | 332 | 0.2560 | 3 | c.*38 others(14): Show |
UPF2 | ENSG00000151461.20 | transcript | ENST00000357604.10 | protein_coding | 2561 | chr10 | TogoVar | |||||||
UPF2_chr10_11915022_12047809 | 11938853 | G | GTTT | intron_variant | MODIFIER | HG00609.hp2 HG01358.hp1 HG01517.hp2 others(10): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0047 others(10): Show |
13 | 75 | 0.1733 | 3 | c.337 others(22): Show |
UPF2 | ENSG00000151461.20 | transcript | ENST00000357604.10 | protein_coding | 18/21 | chr10 | TogoVar | |||||||
UPF2_chr10_11915022_12047809 | 11947786 | C | CAAA | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp1 HG01361.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0057 others(8): Show |
11 | 150 | 0.0733 | 3 | c.317 others(20): Show |
UPF2 | ENSG00000151461.20 | transcript | ENST00000357604.10 | protein_coding | 16/21 | chr10 | TogoVar | |||||||
UPF2_chr10_11915022_12047809 | 11987761 | C | CAAA | intron_variant | MODIFIER | HG01109.hp2 HG01255.hp2 HG01928.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0175 a0001c0001t0002g0155 a0001c0001t0002g0156 others(19): Show |
22 | 115 | 0.1913 | 3 | c.184 others(22): Show |
UPF2 | ENSG00000151461.20 | transcript | ENST00000357604.10 | protein_coding | 8/21 | chr10 | TogoVar | |||||||
UPF2_chr10_11915022_12047809 | 12003923 | C | CAAA | intron_variant | MODIFIER | HG00642.hp2 HG01261.hp2 HG01358.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0098 a0001c0001t0002g0040 a0001c0001t0002g0041 others(14): Show |
17 | 103 | 0.1650 | 3 | c.150 others(20): Show |
UPF2 | ENSG00000151461.20 | transcript | ENST00000357604.10 | protein_coding | 5/21 | chr10 | TogoVar | |||||||
UPF2_chr10_11915022_12047809 | 12007834 | G | GTAA | intron_variant | MODIFIER | HG00280.hp2 HG01070.hp2 HG01243.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0049 a0001c0001t0001g0082 a0001c0001t0001g0096 others(19): Show |
22 | 166 | 0.1325 | 3 | c.130 others(22): Show |
UPF2 | ENSG00000151461.20 | transcript | ENST00000357604.10 | protein_coding | 4/21 | chr10 | TogoVar | |||||||
UPF2_chr10_11915022_12047809 | 12024931 | C | CAAA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00438.hp1 others(65): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0020 others(65): Show |
68 | 128 | 0.5313 | 3 | c.114 others(22): Show |
UPF2 | ENSG00000151461.20 | transcript | ENST00000357604.10 | protein_coding | 3/21 | chr10 | TogoVar | |||||||
UPF2_chr10_11915022_12047809 | 12030543 | A | AAAT | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00438.hp2 others(104): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0011 | a0001c0001t0001a0001c0001t0009a0001c0002t0001others(3): Show | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0127 others(104): Show |
107 | 317 | 0.3375 | 3 | c.366 others(20): Show |
UPF2 | ENSG00000151461.20 | transcript | ENST00000357604.10 | protein_coding | 2/21 | chr10 | TogoVar | |||||||
UPF2_chr10_11915022_12047809 | 12038743 | A | AAAC | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02055.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0322 a0001c0001t0004g0321 a0001c0001t0004g0323 others(6): Show |
9 | 311 | 0.0289 | 3 | c.-18 others(20): Show |
UPF2 | ENSG00000151461.20 | transcript | ENST00000357604.10 | protein_coding | 1/21 | chr10 | TogoVar | |||||||
UPF3A_chr13_114276601_114310817 | 114277140 | T | TCTA | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01496.hp2 others(9): Show |
a0004a0011 | a0004c0004a0011c0009 | a0004c0004t0002a0004c0004t0003a0011c0009t0014 | a0004c0004t0002g0006 a0004c0004t0002g0377 a0004c0004t0002g0378 others(6): Show |
12 | 448 | 0.0268 | 3 | c.-45 others(14): Show |
UPF3A | ENSG00000169062.15 | transcript | ENST00000375299.8 | protein_coding | 4460 | chr13 | TogoVar | |||||||
UPF3B_chrX_119829022_119857963 | 119830741 | C | CAAA | downstream_gene_variant | MODIFIER | HG01099.hp1 HG01167.hp1 HG01169.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 a0001c0001t0002g0019 a0001c0001t0002g0041 others(3): Show |
10 | 235 | 0.0426 | 3 | c.*41 others(14): Show |
UPF3B | ENSG00000125351.14 | transcript | ENST00000276201.7 | protein_coding | 3280 | chrX | TogoVar | |||||||
UPF3B_chrX_119829022_119857963 | 119848281 | C | CAAA | intron_variant | MODIFIER | HG01167.hp1 HG02280.hp1 HG02280.hp2 others(25): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0022 others(17): Show |
28 | 201 | 0.1393 | 3 | c.371 others(20): Show |
UPF3B | ENSG00000125351.14 | transcript | ENST00000276201.7 | protein_coding | 3/10 | chrX | TogoVar | |||||||
UPK1A_chr19_35661517_35683481 | 35671386 | C | CAAA | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00673.hp1 others(95): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0010 a0001c0001t0001g0090 a0001c0001t0001g0129 others(52): Show |
98 | 207 | 0.4734 | 3 | c.286 others(20): Show |
UPK1A | ENSG00000105668.8 | transcript | ENST00000222275.3 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UPK1B_chr3_119168598_119210143 | 119174892 | A | ATTT | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp2 others(107): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(97): Show |
110 | 266 | 0.4135 | 3 | c.-29 others(20): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UPK1B_chr3_119168598_119210143 | 119197022 | A | AGAT | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp1 others(113): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0021 others(103): Show |
116 | 420 | 0.2762 | 3 | c.649 others(20): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UPK1B_chr3_119168598_119210143 | 119203340 | C | CAAA | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00438.hp2 others(54): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0004c0005t0001 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 others(51): Show |
57 | 192 | 0.2969 | 3 | c.733 others(18): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UPK1B_chr3_119168598_119210143 | 119206035 | C | CTTT | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00597.hp1 others(60): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0021 others(53): Show |
63 | 184 | 0.3424 | 3 | c.*20 others(14): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 893 | chr3 | TogoVar | |||||||
UPK2_chr11_118951298_118963559 | 118963173 | A | ATTT | downstream_gene_variant | MODIFIER | HG01099.hp1 HG02055.hp1 HG02055.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0001 others(4): Show |
20 | 390 | 0.0513 | 3 | c.*49 others(14): Show |
UPK2 | ENSG00000110375.3 | transcript | ENST00000264031.3 | protein_coding | 4615 | chr11 | TogoVar | |||||||
UPK3A_chr22_45279949_45300874 | 45281173 | C | CAAA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(96): Show |
a0001a0005a0008others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0030 others(42): Show |
99 | 225 | 0.4400 | 3 | c.-38 others(14): Show |
UPK3A | ENSG00000100373.10 | transcript | ENST00000216211.9 | protein_coding | 3775 | chr22 | TogoVar | |||||||
UPK3A_chr22_45279949_45300874 | 45283419 | C | CCAA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(80): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0031 others(37): Show |
83 | 317 | 0.2618 | 3 | c.-15 others(14): Show |
UPK3A | ENSG00000100373.10 | transcript | ENST00000216211.9 | protein_coding | 1529 | chr22 | TogoVar | |||||||
UPK3A_chr22_45279949_45300874 | 45283419 | C | CCCA | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00733.hp1 HG00738.hp1 others(73): Show |
a0001a0005a0010 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0020 others(16): Show |
76 | 310 | 0.2452 | 3 | c.-15 others(14): Show |
UPK3A | ENSG00000100373.10 | transcript | ENST00000216211.9 | protein_coding | 1529 | chr22 | TogoVar | |||||||
UPK3A_chr22_45279949_45300874 | 45289577 | C | CAAA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(63): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0003a0001c0005others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(7): Show | a0001c0002t0001g0026 a0001c0002t0001g0096 a0001c0002t0001g0175 others(38): Show |
66 | 307 | 0.2150 | 3 | c.571 others(18): Show |
UPK3A | ENSG00000100373.10 | transcript | ENST00000216211.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
UPK3A_chr22_45279949_45300874 | 45299989 | C | CTTT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(211): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0206 a0001c0002t0001g0009 others(130): Show |
214 | 253 | 0.8459 | 3 | c.*42 others(14): Show |
UPK3A | ENSG00000100373.10 | transcript | ENST00000216211.9 | protein_coding | 4116 | chr22 | TogoVar | |||||||
UPK3BL1_chr7_102632025_102647791 | 102634048 | G | GAAA | downstream_gene_variant | MODIFIER | HG01433.hp1 HG02683.hp1 HG03098.hp1 others(10): Show |
a0001a0004a0007 | a0001c0001a0001c0003a0004c0005others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0014others(3): Show | a0001c0001t0003g0047 a0001c0001t0003g0054 a0001c0001t0005g0008 others(8): Show |
13 | 87 | 0.1494 | 3 | c.*34 others(14): Show |
UPK3BL1 | ENSG00000267368.1 | transcript | ENST00000340457.8 | protein_coding | 2976 | chr7 | TogoVar | |||||||
UPK3BL1_chr7_102632025_102647791 | 102639951 | C | CAAA | intron_variant | MODIFIER | HG01074.hp1 HG01081.hp1 NA18965.hp1 others(4): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0001g0085 a0001c0001t0004g0014 a0001c0001t0008g0095 others(2): Show |
7 | 100 | 0.0700 | 3 | c.485 others(18): Show |
UPK3BL1 | ENSG00000267368.1 | transcript | ENST00000340457.8 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
UPK3BL1_chr7_102632025_102647791 | 102643232 | C | CAAA | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01069.hp2 HG01358.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0033 a0001c0001t0001g0085 a0001c0001t0001g0090 others(9): Show |
14 | 80 | 0.1750 | 3 | c.-49 others(12): Show |
UPK3BL1 | ENSG00000267368.1 | transcript | ENST00000340457.8 | protein_coding | 442 | chr7 | TogoVar | |||||||
UPK3BL1_chr7_102632025_102647791 | 102646923 | G | GAAA | upstream_gene_variant | MODIFIER | HG03098.hp2 NA18999.hp2 NA19060.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0005a0001c0001t0007a0001c0001t0008others(1): Show | a0001c0001t0005g0068 a0001c0001t0007g0002 a0001c0001t0008g0095 others(1): Show |
4 | 54 | 0.0741 | 3 | c.-41 others(14): Show |
UPK3BL1 | ENSG00000267368.1 | transcript | ENST00000340457.8 | protein_coding | 4133 | chr7 | TogoVar | |||||||
UPK3BL2_chr7_102532919_102548696 | 102540843 | C | CAAA | intron_variant | MODIFIER | NA18951.hp2 NA19074.hp1 NA19085.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 |
5 | 157 | 0.0318 | 3 | c.485 others(18): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
UPK3BL2_chr7_102532919_102548696 | 102540857 | A | AAAC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(2): Show |
30 | 174 | 0.1724 | 3 | c.485 others(18): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
UPK3B_chr7_76505552_76521522 | 76506049 | G | GCCC | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00597.hp2 others(44): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0001 | a0001c0003t0001g0005 a0002c0002t0001g0001 a0002c0002t0001g0003 others(6): Show |
47 | 245 | 0.1918 | 3 | c.-46 others(14): Show |
UPK3B | ENSG00000243566.7 | transcript | ENST00000334348.8 | protein_coding | 4502 | chr7 | TogoVar | |||||||
UPK3B_chr7_76505552_76521522 | 76509032 | C | CAAA | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02145.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0046 others(1): Show |
12 | 185 | 0.0649 | 3 | c.-16 others(14): Show |
UPK3B | ENSG00000243566.7 | transcript | ENST00000334348.8 | protein_coding | 1519 | chr7 | TogoVar | |||||||
UPK3B_chr7_76505552_76521522 | 76520071 | A | AAAG | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(38): Show |
a0002a0006a0007 | a0002c0002a0006c0010a0007c0013 | a0002c0002t0001a0006c0010t0001a0007c0013t0001 | a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0058 others(6): Show |
41 | 338 | 0.1213 | 3 | c.*48 others(14): Show |
UPK3B | ENSG00000243566.7 | transcript | ENST00000334348.8 | protein_coding | 3550 | chr7 | TogoVar | |||||||
UPP1_chr7_48084265_48113736 | 48084401 | C | CAAA | upstream_gene_variant | MODIFIER | HG00639.hp2 HG02109.hp2 HG02257.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0083 a0001c0001t0002g0052 others(5): Show |
11 | 366 | 0.0301 | 3 | c.-52 others(14): Show |
UPP1 | ENSG00000183696.14 | transcript | ENST00000395564.9 | protein_coding | 4863 | chr7 | TogoVar | |||||||
UPP1_chr7_48084265_48113736 | 48087857 | G | GTTT | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01175.hp1 HG01243.hp2 others(31): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0006a0001c0004t0002 | a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0007 others(14): Show |
34 | 291 | 0.1168 | 3 | c.-17 others(14): Show |
UPP1 | ENSG00000183696.14 | transcript | ENST00000395564.9 | protein_coding | 1407 | chr7 | TogoVar | |||||||
UPP2_chr2_158096876_158141154 | 158130894 | G | GCCA | intron_variant | MODIFIER | HG00280.hp2 HG00735.hp1 HG01358.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0021 a0004c0006t0001g0145 |
4 | 340 | 0.0118 | 3 | c.812 others(20): Show |
UPP2 | ENSG00000007001.13 | transcript | ENST00000005756.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UPP2_chr2_158096876_158141154 | 158136387 | C | CTTT | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02451.hp1 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0008a0002c0002t0003others(2): Show | a0001c0001t0002g0023 a0001c0001t0008g0191 a0001c0001t0008g0195 others(15): Show |
22 | 151 | 0.1457 | 3 | c.*14 others(14): Show |
UPP2 | ENSG00000007001.13 | transcript | ENST00000005756.5 | protein_coding | 234 | chr2 | TogoVar | |||||||
UPRT_chrX_75269085_75309885 | 75286306 | T | TGGG | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG01978.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0059 others(10): Show |
22 | 125 | 0.1760 | 3 | c.387 others(20): Show |
UPRT | ENSG00000094841.14 | transcript | ENST00000373383.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
UQCC1_chr20_35297578_35416973 | 35310644 | C | CAAA | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00741.hp1 others(18): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0006c0008t0009 | a0001c0001t0001g0143 a0001c0001t0001g0155 a0001c0001t0001g0159 others(18): Show |
21 | 115 | 0.1826 | 3 | c.652 others(20): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 8/9 | chr20 | TogoVar |