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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP12A_chr13_24675408_24717472 | 24708946 | A | AAAGAAAG others(5): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01255.hp1 HG02055.hp1 others(3): Show |
a0001 | a0001c0005a0001c0006a0001c0010 | a0001c0005t0001a0001c0006t0001a0001c0010t0001 | a0001c0005t0001g0177 a0001c0006t0001g0024 a0001c0006t0001g0142 others(2): Show |
6 | 276 | 0.0217 | 12 | c.249 others(29): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP12A_chr13_24675408_24717472 | 24708950 | A | AAAGAAAG others(5): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0233 | 1 | 379 | 0.0026 | 12 | c.249 others(29): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP13A2_chr1_16980958_17016928 | 16994197 | C | CTCTCTCT others(5): Show |
intron_variant | MODIFIER | HG01167.hp1 HG03453.hp2 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0001a0001c0016t0001 | a0001c0001t0001g0162 a0001c0016t0001g0114 |
2 | 236 | 0.0085 | 12 | c.154 others(29): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 15/28 | chr1 | TogoVar | |||||||
ATP13A2_chr1_16980958_17016928 | 16997414 | C | CGGGGGGG others(5): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 181 | 0.0055 | 12 | c.104 others(29): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 11/28 | chr1 | TogoVar | |||||||
ATP13A2_chr1_16980958_17016928 | 16999675 | G | GTCAACAA others(5): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0076 | 1 | 364 | 0.0027 | 12 | c.103 others(29): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 11/28 | chr1 | TogoVar | |||||||
ATP13A2_chr1_16980958_17016928 | 17003585 | C | CCACACAC others(5): Show |
intron_variant | MODIFIER | HG01934.hp1 HG01934.hp2 NA18980.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0011 a0001c0001t0001g0194 a0001c0002t0001g0035 |
3 | 101 | 0.0297 | 12 | c.557 others(27): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 6/28 | chr1 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194409693 | A | ATTTTTTT others(5): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01074.hp2 HG02896.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(3): Show | a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0229 others(8): Show |
11 | 129 | 0.0853 | 12 | c.357 others(31): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 33/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194410937 | G | GGTGTTGG others(5): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02280.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0183 a0001c0001t0007g0184 a0001c0001t0007g0185 others(4): Show |
7 | 169 | 0.0414 | 12 | c.357 others(31): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 33/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194415661 | C | CTGTTTTT others(5): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0268 | 1 | 153 | 0.0065 | 12 | c.340 others(31): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 31/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194417396 | G | GACACACA others(5): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02818.hp2 HG03098.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0082 a0001c0001t0002g0088 a0001c0001t0002g0120 others(5): Show |
8 | 32 | 0.2500 | 12 | c.340 others(31): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 31/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194417958 | C | CGGAAGGA others(5): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01934.hp1 HG01975.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 others(13): Show |
16 | 215 | 0.0744 | 12 | c.340 others(31): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 31/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194421114 | G | GTGTGTAT others(5): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 264 | 0.0038 | 12 | c.331 others(31): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 30/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194421944 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02723.hp1 HG02809.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0031others(1): Show | a0001c0001t0001g0223 a0001c0001t0007g0185 a0001c0001t0007g0186 others(4): Show |
7 | 141 | 0.0496 | 12 | c.331 others(31): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 30/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194468386 | T | TAAAAAAA others(5): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 207 | 0.0048 | 12 | c.-46 others(29): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 2/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194483426 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02572.hp2 HG03098.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0001g0247 a0001c0001t0004g0179 a0001c0001t0004g0180 others(2): Show |
5 | 161 | 0.0311 | 12 | c.-47 others(29): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 2/33 | chr3 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193484310 | A | AAAATAAA others(5): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 187 | 0.0053 | 12 | c.739 others(27): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 7/29 | chr3 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193503994 | C | CGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02293.hp1 NA19001.hp2 others(1): Show |
a0001a0002a0007 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0003a0001c0004t0004a0002c0003t0001others(1): Show | a0001c0001t0003g0145 a0001c0004t0004g0067 a0002c0003t0001g0064 others(1): Show |
4 | 295 | 0.0136 | 12 | c.235 others(29): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 2/29 | chr3 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193503995 | A | ATGTGTGT others(5): Show |
intron_variant | MODIFIER | NA18522.hp2 NA18940.hp1 NA18957.hp1 others(4): Show |
a0001a0003 | a0001c0004a0003c0005 | a0001c0004t0001a0001c0004t0003a0001c0004t0004others(1): Show | a0001c0004t0001g0269 a0001c0004t0001g0271 a0001c0004t0001g0272 others(4): Show |
7 | 267 | 0.0262 | 12 | c.235 others(29): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 2/29 | chr3 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193504020 | T | TGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0012 | a0002c0012t0012 | a0002c0012t0012g0040 | 1 | 162 | 0.0062 | 12 | c.235 others(29): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 2/29 | chr3 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193504020 | T | TGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0039 | 1 | 162 | 0.0062 | 12 | c.235 others(29): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 2/29 | chr3 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193541248 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0275 | 1 | 219 | 0.0046 | 12 | c.60+ others(29): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193270069 | A | AATACACA others(5): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG01255.hp2 others(9): Show |
a0001a0003a0004others(5): Show | a0001c0013a0003c0002a0004c0003others(5): Show | a0001c0013t0001a0003c0002t0001a0004c0003t0002others(5): Show | a0001c0013t0001g0063 a0003c0002t0001g0049 a0003c0002t0001g0097 others(9): Show |
12 | 54 | 0.2222 | 12 | c.*49 others(23): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 4719 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193284007 | G | GATTATTA others(5): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02976.hp2 HG03225.hp1 others(3): Show |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0003 a0001c0007t0001g0174 a0001c0007t0001g0175 others(1): Show |
6 | 50 | 0.1200 | 12 | c.322 others(29): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 27/29 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193320638 | A | ACTTCTAA others(5): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0183 | 1 | 58 | 0.0172 | 12 | c.191 others(31): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 16/29 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193347524 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02559.hp2 NA20129.hp1 |
a0025a0034 | a0025c0045a0034c0044 | a0025c0045t0001a0034c0044t0001 | a0025c0045t0001g0095 a0034c0044t0001g0017 |
2 | 87 | 0.0230 | 12 | c.742 others(29): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 7/29 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193353864 | C | CCCACCAC others(5): Show |
intron_variant | MODIFIER | HG01099.hp2 NA18981.hp1 |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0182 a0003c0002t0001g0183 |
2 | 282 | 0.0071 | 12 | c.606 others(27): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 6/29 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193354940 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG00735.hp1 others(38): Show |
a0001a0002a0003others(4): Show | a0001c0006a0001c0007a0001c0013others(7): Show | a0001c0006t0001a0001c0006t0002a0001c0007t0001others(10): Show | a0001c0006t0001g0005 a0001c0006t0001g0012 a0001c0006t0001g0013 others(33): Show |
41 | 154 | 0.2662 | 12 | c.537 others(27): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 5/29 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193362750 | C | CTTCTTTC others(5): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0084 | 1 | 132 | 0.0076 | 12 | c.385 others(27): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 3/29 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193362813 | C | CTTTCTTT others(5): Show |
intron_variant | MODIFIER | HG03041.hp1 HG06807.hp2 |
a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0187 a0003c0002t0002g0188 |
2 | 64 | 0.0313 | 12 | c.385 others(27): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 3/29 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193368392 | T | TTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02647.hp1 |
a0004a0007 | a0004c0003a0007c0010 | a0004c0003t0002a0007c0010t0002 | a0004c0003t0002g0225 a0007c0010t0002g0234 |
2 | 15 | 0.1333 | 12 | c.64- others(27): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
ATP1A2_chr1_160110759_160148591 | 160111638 | T | TTTTATTT others(5): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 NA18949.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0245 a0001c0001t0003g0273 |
2 | 249 | 0.0080 | 12 | c.-42 others(23): Show |
ATP1A2 | ENSG00000018625.15 | transcript | ENST00000361216.8 | protein_coding | 4120 | chr1 | TogoVar | |||||||
ATP1A3_chr19_41961582_41999230 | 41972804 | G | GGGAAGGA others(5): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01175.hp2 HG01258.hp1 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0002 | a0001c0001t0001g0032 a0001c0001t0001g0058 a0001c0001t0001g0074 others(6): Show |
9 | 91 | 0.0989 | 12 | c.226 others(31): Show |
ATP1A3 | ENSG00000105409.19 | transcript | ENST00000648268.1 | protein_coding | 16/22 | chr19 | TogoVar | |||||||
ATP1A3_chr19_41961582_41999230 | 41972867 | A | AAAGAAGG others(5): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0261 a0001c0001t0002g0264 |
2 | 279 | 0.0072 | 12 | c.226 others(31): Show |
ATP1A3 | ENSG00000105409.19 | transcript | ENST00000648268.1 | protein_coding | 16/22 | chr19 | TogoVar | |||||||
ATP1A3_chr19_41961582_41999230 | 41997853 | A | ATCACAGC others(5): Show |
upstream_gene_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 280 | 0.0036 | 12 | c.-37 others(23): Show |
ATP1A3 | ENSG00000105409.19 | transcript | ENST00000648268.1 | protein_coding | 3624 | chr19 | TogoVar | |||||||
ATP1A4_chr1_160146603_160191980 | 160186086 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01258.hp2 HG02129.hp2 HG02145.hp1 others(9): Show |
a0001a0002a0003others(3): Show | a0001c0005a0002c0002a0002c0006others(5): Show | a0001c0005t0001a0002c0002t0002a0002c0006t0002others(5): Show | a0001c0005t0001g0343 a0001c0005t0001g0349 a0002c0002t0002g0121 others(8): Show |
12 | 107 | 0.1122 | 12 | c.297 others(29): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP1B1_chr1_169101690_169137719 | 169106619 | C | CCCGCCGC others(5): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 HG02155.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0076 a0001c0001t0004g0326 |
2 | 58 | 0.0345 | 12 | c.-21 others(21): Show |
ATP1B1 | ENSG00000143153.14 | transcript | ENST00000367815.9 | protein_coding | 70 | chr1 | TogoVar | |||||||
ATP1B1_chr1_169101690_169137719 | 169107884 | A | ACATCATC others(5): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 392 | 0.0026 | 12 | c.97+ others(25): Show |
ATP1B1 | ENSG00000143153.14 | transcript | ENST00000367815.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141874438 | A | AAAAAAAA others(5): Show |
upstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0074 | 1 | 106 | 0.0094 | 12 | c.-23 others(23): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2204 | chr3 | TogoVar | |||||||
ATP1B3_chr3_141871643_141931549 | 141874438 | A | AAAAAAAA others(5): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 NA18950.hp1 NA18962.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0005g0033 |
3 | 108 | 0.0278 | 12 | c.-23 others(23): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2204 | chr3 | TogoVar | |||||||
ATP1B3_chr3_141871643_141931549 | 141874438 | A | AAAAAATA others(5): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 HG02922.hp1 HG03471.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0015 | a0001c0001t0003g0046 a0001c0001t0003g0049 a0001c0001t0003g0075 others(6): Show |
9 | 114 | 0.0789 | 12 | c.-23 others(23): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2204 | chr3 | TogoVar | |||||||
ATP1B3_chr3_141871643_141931549 | 141874438 | A | AAAATATA others(5): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 106 | 0.0094 | 12 | c.-23 others(23): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2204 | chr3 | TogoVar | |||||||
ATP1B3_chr3_141871643_141931549 | 141874438 | A | AATATATA others(5): Show |
upstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 106 | 0.0094 | 12 | c.-23 others(23): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2204 | chr3 | TogoVar | |||||||
ATP1B3_chr3_141871643_141931549 | 141874464 | T | TATATATA others(5): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0062 a0001c0001t0007g0050 |
2 | 334 | 0.0060 | 12 | c.-23 others(23): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2178 | chr3 | TogoVar | |||||||
ATP1B3_chr3_141871643_141931549 | 141879777 | T | TCAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG02572.hp1 others(12): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0002g0305 a0001c0001t0003g0108 a0001c0001t0003g0300 others(12): Show |
15 | 337 | 0.0445 | 12 | c.109 others(29): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141879779 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(77): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(72): Show |
80 | 339 | 0.2360 | 12 | c.109 others(29): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP2A2_chr12_110276247_110356093 | 110293826 | A | ATGTGTGT others(5): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0079 a0001c0001t0002g0037 |
2 | 100 | 0.0200 | 12 | c.324 others(29): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3958869 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0033 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 others(9): Show |
13 | 308 | 0.0422 | 12 | c.119 others(29): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1/20 | chr17 | TogoVar | |||||||
ATP2A3_chr17_3918873_3969437 | 3965849 | T | TTTATTAT others(5): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG02040.hp1 HG02809.hp1 others(6): Show |
a0001a0002 | a0001c0003a0001c0004a0001c0023others(3): Show | a0001c0003t0003a0001c0003t0005a0001c0004t0001others(5): Show | a0001c0003t0003g0082 a0001c0003t0005g0076 a0001c0003t0005g0116 others(6): Show |
9 | 217 | 0.0415 | 12 | c.-15 others(23): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1413 | chr17 | TogoVar | |||||||
ATP2A3_chr17_3918873_3969437 | 3966363 | G | GTTTTTTT others(5): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 26 | 0.0385 | 12 | c.-20 others(23): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1927 | chr17 | TogoVar | |||||||
ATP2B1_chr12_89583049_89713838 | 89583790 | C | CGGGGGGG others(5): Show |
downstream_gene_variant | MODIFIER | HG01943.hp1 HG01978.hp1 NA19006.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 a0001c0001t0001g0090 a0001c0001t0001g0266 |
3 | 97 | 0.0309 | 12 | c.*71 others(23): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 4258 | chr12 | TogoVar |