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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UPF3B_chrX_119829022_119857963 | 119842601 | C | CACACACA others(3): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 2 | 268 | 0.0075 | 10 | c.580 others(25): Show |
UPF3B | ENSG00000125351.14 | transcript | ENST00000276201.7 | protein_coding | 5/10 | chrX | TogoVar | |||||||
UPF3B_chrX_119829022_119857963 | 119842605 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03453.hp2 HG03491.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0022 others(7): Show |
13 | 89 | 0.1461 | 10 | c.580 others(25): Show |
UPF3B | ENSG00000125351.14 | transcript | ENST00000276201.7 | protein_coding | 5/10 | chrX | TogoVar | |||||||
UPF3B_chrX_119829022_119857963 | 119851748 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | NA19062.hp1 NA19078.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 a0001c0001t0001g0156 |
2 | 4 | 0.5000 | 10 | c.263 others(22): Show |
UPF3B | ENSG00000125351.14 | transcript | ENST00000276201.7 | protein_coding | 2/10 | chrX | TogoVar | |||||||
UPK1A_chr19_35661517_35683481 | 35667306 | T | TTTTTGTT others(3): Show |
intron_variant | MODIFIER | HG03139.hp2 HG06807.hp1 |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0004c0003t0001 | a0001c0001t0001g0092 a0004c0003t0001g0005 |
2 | 126 | 0.0159 | 10 | c.84+ others(23): Show |
UPK1A | ENSG00000105668.8 | transcript | ENST00000222275.3 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UPK1A_chr19_35661517_35683481 | 35670530 | C | CCTCGCCT others(3): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 418 | 0.0024 | 10 | c.285 others(27): Show |
UPK1A | ENSG00000105668.8 | transcript | ENST00000222275.3 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UPK1A_chr19_35661517_35683481 | 35682244 | A | AATATATA others(3): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 HG01099.hp1 HG01168.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0002c0002t0001a0003c0004t0002 | a0001c0001t0001g0006 a0001c0001t0001g0124 a0001c0001t0001g0134 others(5): Show |
9 | 169 | 0.0533 | 10 | c.*42 others(21): Show |
UPK1A | ENSG00000105668.8 | transcript | ENST00000222275.3 | protein_coding | 3764 | chr19 | TogoVar | |||||||
UPK1B_chr3_119168598_119210143 | 119179352 | G | GATATATA others(3): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG01168.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0090 others(11): Show |
14 | 219 | 0.0639 | 10 | c.-29 others(27): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UPK1B_chr3_119168598_119210143 | 119179507 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02135.hp2 HG02257.hp2 HG02809.hp1 others(7): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0001g0143 a0001c0001t0001g0255 a0001c0001t0001g0288 others(7): Show |
10 | 121 | 0.0826 | 10 | c.-29 others(27): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UPK1B_chr3_119168598_119210143 | 119184584 | G | GGTGTGGC others(3): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 420 | 0.0024 | 10 | c.-28 others(27): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UPK1B_chr3_119168598_119210143 | 119203350 | A | AAAACAAA others(3): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02040.hp1 HG02129.hp2 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0044 a0002c0002t0001g0050 a0002c0002t0001g0075 others(9): Show |
12 | 420 | 0.0286 | 10 | c.733 others(25): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UPK3BL1_chr7_102632025_102647791 | 102639963 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02886.hp2 NA19000.hp1 |
a0001a0003 | a0001c0003a0003c0004 | a0001c0003t0017a0003c0004t0002 | a0001c0003t0017g0037 a0003c0004t0002g0051 |
2 | 67 | 0.0299 | 10 | c.485 others(25): Show |
UPK3BL1 | ENSG00000267368.1 | transcript | ENST00000340457.8 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
UPK3BL1_chr7_102632025_102647791 | 102639963 | C | CAAAACAA others(3): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01069.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0002c0002t0002 | a0001c0001t0007g0002 a0002c0002t0002g0003 a0002c0002t0002g0031 |
4 | 69 | 0.0580 | 10 | c.485 others(25): Show |
UPK3BL1 | ENSG00000267368.1 | transcript | ENST00000340457.8 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
UPK3BL1_chr7_102632025_102647791 | 102643352 | A | ATTATTAT others(3): Show |
upstream_gene_variant | MODIFIER | HG01358.hp1 HG02886.hp2 |
a0001a0003 | a0001c0003a0003c0008 | a0001c0003t0017a0003c0008t0006 | a0001c0003t0017g0037 a0003c0008t0006g0021 |
2 | 132 | 0.0152 | 10 | c.-61 others(19): Show |
UPK3BL1 | ENSG00000267368.1 | transcript | ENST00000340457.8 | protein_coding | 562 | chr7 | TogoVar | |||||||
UPK3BL1_chr7_102632025_102647791 | 102646911 | A | AGAAAGGA others(3): Show |
upstream_gene_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0068 | 1 | 134 | 0.0075 | 10 | c.-41 others(21): Show |
UPK3BL1 | ENSG00000267368.1 | transcript | ENST00000340457.8 | protein_coding | 4121 | chr7 | TogoVar | |||||||
UPK3BL1_chr7_102632025_102647791 | 102647004 | C | CTTTTTTT others(3): Show |
upstream_gene_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 48 | 0.0208 | 10 | c.-42 others(21): Show |
UPK3BL1 | ENSG00000267368.1 | transcript | ENST00000340457.8 | protein_coding | 4214 | chr7 | TogoVar | |||||||
UPK3BL2_chr7_102532919_102548696 | 102540843 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 153 | 0.0065 | 10 | c.485 others(25): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
UPK3BL2_chr7_102532919_102548696 | 102544258 | A | ATTATTAT others(3): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00735.hp1 HG01069.hp2 others(29): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0003 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0003t0001g0006 others(1): Show |
32 | 142 | 0.2254 | 10 | c.-62 others(19): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 563 | chr7 | TogoVar | |||||||
UPK3BL2_chr7_102532919_102548696 | 102544258 | A | ATTATTTT others(3): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG01346.hp2 HG02145.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 9 | 119 | 0.0756 | 10 | c.-62 others(19): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 563 | chr7 | TogoVar | |||||||
UPK3BL2_chr7_102532919_102548696 | 102547829 | A | AAGGAAAG others(3): Show |
upstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 173 | 0.0058 | 10 | c.-41 others(21): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 4134 | chr7 | TogoVar | |||||||
UPP2_chr2_158096876_158141154 | 158104917 | A | AAAGGGAA others(3): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01257.hp2 HG01258.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0041 a0001c0001t0001g0173 a0001c0001t0001g0175 others(10): Show |
15 | 235 | 0.0638 | 10 | c.63- others(25): Show |
UPP2 | ENSG00000007001.13 | transcript | ENST00000005756.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UPP2_chr2_158096876_158141154 | 158104974 | A | AGGGAGGG others(3): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0073 | 1 | 338 | 0.0030 | 10 | c.63- others(25): Show |
UPP2 | ENSG00000007001.13 | transcript | ENST00000005756.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UPP2_chr2_158096876_158141154 | 158104994 | A | AGGGAGGG others(3): Show |
intron_variant | MODIFIER | NA18998.hp1 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 2 | 172 | 0.0116 | 10 | c.63- others(25): Show |
UPP2 | ENSG00000007001.13 | transcript | ENST00000005756.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UPP2_chr2_158096876_158141154 | 158104996 | G | GGAGGGGA others(3): Show |
intron_variant | MODIFIER | HG00280.hp1 HG03490.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 340 | 0.0059 | 10 | c.63- others(25): Show |
UPP2 | ENSG00000007001.13 | transcript | ENST00000005756.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UPP2_chr2_158096876_158141154 | 158108887 | C | CGTGTGTG others(3): Show |
intron_variant | MODIFIER | NA19059.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 135 | 0.0074 | 10 | c.180 others(27): Show |
UPP2 | ENSG00000007001.13 | transcript | ENST00000005756.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UPP2_chr2_158096876_158141154 | 158116903 | G | GGGGTAAC others(3): Show |
intron_variant | MODIFIER | NA19059.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 340 | 0.0029 | 10 | c.340 others(25): Show |
UPP2 | ENSG00000007001.13 | transcript | ENST00000005756.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UPP2_chr2_158096876_158141154 | 158130189 | A | AACACTGC others(3): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(33): Show |
a0002a0005 | a0002c0002a0005c0007 | a0002c0002t0003a0002c0002t0014a0005c0007t0003 | a0002c0002t0003g0002 a0002c0002t0003g0005 a0002c0002t0003g0006 others(11): Show |
36 | 340 | 0.1059 | 10 | c.812 others(27): Show |
UPP2 | ENSG00000007001.13 | transcript | ENST00000005756.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UPRT_chrX_75269085_75309885 | 75272319 | T | TATATATA others(3): Show |
upstream_gene_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 32 | 0.0313 | 10 | c.-19 others(21): Show |
UPRT | ENSG00000094841.14 | transcript | ENST00000373383.9 | protein_coding | 1765 | chrX | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35321283 | T | TGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0006 | 1 | 201 | 0.0050 | 10 | c.574 others(27): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 7/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35321283 | T | TGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0238 | 1 | 201 | 0.0050 | 10 | c.574 others(27): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 7/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35338880 | A | AATATATC others(3): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 252 | 0.0040 | 10 | c.573 others(27): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 7/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35338888 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0003 | 1 | 173 | 0.0058 | 10 | c.573 others(27): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 7/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35338913 | A | ATATATAT others(3): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02486.hp2 HG03579.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0204 a0001c0001t0001g0248 a0001c0001t0002g0107 others(1): Show |
4 | 112 | 0.0357 | 10 | c.573 others(27): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 7/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35388308 | T | TTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01975.hp1 HG02055.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0138 a0001c0001t0001g0189 a0001c0001t0001g0219 others(4): Show |
7 | 145 | 0.0483 | 10 | c.130 others(27): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35410704 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01993.hp1 HG02738.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0155 a0002c0002t0001g0025 a0002c0002t0001g0026 others(3): Show |
6 | 62 | 0.0968 | 10 | c.24+ others(25): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35415259 | C | CTTTTTTT others(3): Show |
upstream_gene_variant | MODIFIER | NA18941.hp2 NA18994.hp1 NA19005.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 others(1): Show |
4 | 9 | 0.4444 | 10 | c.-32 others(21): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 3287 | chr20 | TogoVar | |||||||
UQCC2_chr6_33691764_33716700 | 33706673 | G | GGATGAGG others(3): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01255.hp2 HG01975.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0012 | a0001c0001t0001g0036 a0001c0001t0005g0012 a0001c0001t0005g0105 others(1): Show |
11 | 400 | 0.0275 | 10 | c.138 others(27): Show |
UQCC2 | ENSG00000137288.10 | transcript | ENST00000607484.6 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
UQCC5_chr3_52531605_52546890 | 52533929 | C | CGGCGGGG others(3): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 384 | 0.0026 | 10 | c.-28 others(21): Show |
UQCC5 | ENSG00000168273.8 | transcript | ENST00000477703.6 | protein_coding | 2675 | chr3 | TogoVar | |||||||
UQCC5_chr3_52531605_52546890 | 52542618 | T | TAAAAAAA others(3): Show |
downstream_gene_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0008 | 1 | 386 | 0.0026 | 10 | c.*21 others(21): Show |
UQCC5 | ENSG00000168273.8 | transcript | ENST00000477703.6 | protein_coding | 729 | chr3 | TogoVar | |||||||
UQCC5_chr3_52531605_52546890 | 52542619 | C | CAAAAAAA others(3): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0009 others(3): Show |
53 | 58 | 0.9138 | 10 | c.*21 others(21): Show |
UQCC5 | ENSG00000168273.8 | transcript | ENST00000477703.6 | protein_coding | 730 | chr3 | TogoVar | |||||||
UQCRB_chr8_96217947_96240545 | 96222794 | T | TCATACAC others(3): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG01167.hp1 HG01175.hp2 others(18): Show |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0002a0001c0001t0008a0001c0001t0030others(3): Show | a0001c0001t0002g0002 a0001c0001t0002g0027 a0001c0001t0002g0041 others(6): Show |
21 | 169 | 0.1243 | 10 | c.*82 others(21): Show |
UQCRB | ENSG00000156467.10 | transcript | ENST00000287022.10 | protein_coding | 152 | chr8 | TogoVar | |||||||
UQCRC2_chr16_21948361_21988660 | 21961623 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 360 | 0.0028 | 10 | c.333 others(25): Show |
UQCRC2 | ENSG00000140740.11 | transcript | ENST00000268379.9 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
UQCRC2_chr16_21948361_21988660 | 21961626 | T | TTATATAT others(3): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00735.hp2 HG01069.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0092 others(13): Show |
25 | 42 | 0.5952 | 10 | c.333 others(25): Show |
UQCRC2 | ENSG00000140740.11 | transcript | ENST00000268379.9 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
UQCRFS1_chr19_29200320_29218151 | 29217193 | C | CTTTTTTT others(3): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG01109.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0080 a0001c0001t0002g0009 a0001c0001t0002g0013 others(9): Show |
24 | 44 | 0.5455 | 10 | c.-40 others(21): Show |
UQCRFS1 | ENSG00000169021.6 | transcript | ENST00000304863.6 | protein_coding | 4043 | chr19 | TogoVar | |||||||
UQCRH_chr1_46298698_46321776 | 46299878 | C | CAAATAAA others(3): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 a0001c0001t0001g0207 |
2 | 425 | 0.0047 | 10 | c.-38 others(21): Show |
UQCRH | ENSG00000173660.12 | transcript | ENST00000311672.10 | protein_coding | 3819 | chr1 | TogoVar | |||||||
URAD_chr13_27972717_27993693 | 27991283 | A | ATAGGTAT others(3): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0125 | 1 | 412 | 0.0024 | 10 | c.-26 others(21): Show |
URAD | ENSG00000183463.7 | transcript | ENST00000332715.6 | protein_coding | 2591 | chr13 | TogoVar | |||||||
URAD_chr13_27972717_27993693 | 27993656 | C | CAGAGCAC others(3): Show |
upstream_gene_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 426 | 0.0023 | 10 | c.-50 others(21): Show |
URAD | ENSG00000183463.7 | transcript | ENST00000332715.6 | protein_coding | 4964 | chr13 | TogoVar | |||||||
URB2_chr1_229621247_229665200 | 229648149 | A | AAAAATTA others(3): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0136 | 1 | 354 | 0.0028 | 10 | c.414 others(27): Show |
URB2 | ENSG00000135763.10 | transcript | ENST00000258243.7 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
URI1_chr19_29937239_30021612 | 29944140 | C | CATATATA others(3): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01071.hp1 HG01175.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0006t0001a0002c0002t0001 | a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0219 others(17): Show |
20 | 57 | 0.3509 | 10 | c.117 others(27): Show |
URI1 | ENSG00000105176.18 | transcript | ENST00000392271.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
URI1_chr19_29937239_30021612 | 29996479 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0003 | a0003c0003 | a0003c0003t0006 | a0003c0003t0006g0322 | 1 | 213 | 0.0047 | 10 | c.368 others(27): Show |
URI1 | ENSG00000105176.18 | transcript | ENST00000392271.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
URM1_chr9_128366374_128397016 | 128371219 | G | GCCCTCCC others(3): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG02040.hp2 HG02055.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0011 | a0001c0001t0003g0005 a0001c0001t0003g0022 a0001c0001t0003g0025 others(13): Show |
30 | 207 | 0.1449 | 10 | c.-16 others(19): Show |
URM1 | ENSG00000167118.11 | transcript | ENST00000372853.9 | protein_coding | 154 | chr9 | TogoVar |