regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 | 24697714 | G | GTGATAAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(234): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(35): Show | a0001c0001t0001g0052a0001c0001t0001g0075a0001c0001t0001g0182others(196): Show | 237 | 382 | 0.6204 | 8 | c.151 others(25): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 11/22 | chr13 | TogoVar | ||||||
ATP12A_chr13_24675408_24717472 | 24708880 | G | GAAAGAGA others(1): Show |
intron_variant | MODIFIER | NA18940.hp1 NA18961.hp2 NA18962.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0059a0001c0001t0001g0062others(1): Show | 4 | 382 | 0.0105 | 8 | c.249 others(25): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP12A_chr13_24675408_24717472 | 24708900 | G | GGAAAGAA others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02602.hp2 HG02647.hp1 others(10): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0005others(1): Show | a0001c0002t0001a0001c0002t0011a0001c0003t0004others(3): Show | a0001c0002t0001g0016a0001c0002t0001g0064a0001c0002t0001g0083others(9): Show | 13 | 382 | 0.0340 | 8 | c.249 others(25): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP12A_chr13_24675408_24717472 | 24708946 | A | AAAGAAAG others(1): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02129.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0071a0001c0001t0001g0189a0001c0001t0001g0215others(7): Show | 11 | 382 | 0.0288 | 8 | c.249 others(25): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP12A_chr13_24675408_24717472 | 24708946 | A | AAAGGAAG others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01496.hp2 HG02717.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0003t0001a0001c0006t0001 | a0001c0001t0001g0140a0001c0003t0001g0078a0001c0006t0001g0153others(1): Show | 4 | 382 | 0.0105 | 8 | c.249 others(25): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP13A2_chr1_16980958_17016928 | 16997414 | C | CGGGGGGG others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp2 others(22): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0016a0001c0001t0001g0134a0001c0001t0001g0138others(20): Show | 25 | 366 | 0.0683 | 8 | c.104 others(25): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 11/28 | chr1 | TogoVar | ||||||
ATP13A2_chr1_16980958_17016928 | 17001263 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02083.hp1 HG02615.hp1 others(14): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(3): Show | a0001c0001t0001g0126a0001c0001t0001g0135a0001c0001t0001g0138others(14): Show | 17 | 366 | 0.0465 | 8 | c.706 others(23): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 8/28 | chr1 | TogoVar | ||||||
ATP13A2_chr1_16980958_17016928 | 17003585 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00597.hp1 HG00741.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(3): Show | a0001c0001t0001g0033a0001c0001t0001g0170a0001c0001t0001g0197others(20): Show | 24 | 366 | 0.0656 | 8 | c.557 others(23): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 6/28 | chr1 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194409693 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01934.hp1 HG01975.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0014a0001c0001t0018others(1): Show | a0001c0001t0012g0034a0001c0001t0012g0037a0001c0001t0012g0044others(5): Show | 8 | 304 | 0.0263 | 8 | c.357 others(27): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 33/33 | chr3 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194417396 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01192.hp1 HG01884.hp2 others(23): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0095a0001c0001t0001g0096a0001c0001t0001g0102others(23): Show | 26 | 304 | 0.0855 | 8 | c.340 others(27): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 31/33 | chr3 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194417958 | C | CGGAAGGA others(1): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02622.hp2 HG03540.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0059a0001c0001t0003g0099a0001c0001t0005g0043others(3): Show | 6 | 304 | 0.0197 | 8 | c.340 others(27): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 31/33 | chr3 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194421114 | G | GTGTGTAT others(1): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01255.hp2 HG02622.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0023 | a0001c0001t0002g0225a0001c0001t0002g0230a0001c0001t0002g0233others(2): Show | 5 | 304 | 0.0165 | 8 | c.331 others(27): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 30/33 | chr3 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194428231 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00621.hp1 others(117): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(22): Show | a0001c0001t0002g0134a0001c0001t0002g0181a0001c0001t0002g0190others(117): Show | 120 | 304 | 0.3947 | 8 | c.294 others(25): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 28/33 | chr3 | TogoVar | ||||||
ATP13A4_chr3_193393967_193559895 | 193412506 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02056.hp2 NA18954.hp2 NA19084.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0001 | a0001c0001t0003g0152a0001c0001t0003g0180a0001c0004t0001g0293 | 3 | 302 | 0.0099 | 8 | c.301 others(25): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 26/29 | chr3 | TogoVar | ||||||
ATP13A4_chr3_193393967_193559895 | 193484310 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01099.hp1 HG01884.hp1 others(35): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0004t0001others(16): Show | a0001c0001t0001g0223a0001c0001t0005g0242a0001c0004t0001g0036others(35): Show | 38 | 302 | 0.1258 | 8 | c.739 others(23): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 7/29 | chr3 | TogoVar | ||||||
ATP13A4_chr3_193393967_193559895 | 193531296 | G | GAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG01261.hp2 HG03453.hp1 NA18967.hp1 |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0003t0001a0002c0003t0002 | a0002c0002t0001g0063a0002c0003t0001g0075a0002c0003t0002g0059 | 3 | 302 | 0.0099 | 8 | c.61- others(25): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | ||||||
ATP13A4_chr3_193393967_193559895 | 193543167 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01081.hp1 HG01099.hp1 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0004t0001others(12): Show | a0001c0001t0002g0288a0001c0001t0003g0301a0001c0004t0001g0286others(20): Show | 23 | 302 | 0.0762 | 8 | c.60+ others(25): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | ||||||
ATP13A5_chr3_193269789_193383753 | 193270069 | A | AATACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00741.hp2 HG01256.hp2 others(9): Show |
a0001a0003a0004others(4): Show | a0001c0007a0001c0012a0003c0002others(5): Show | a0001c0007t0001a0001c0007t0002a0001c0012t0001others(6): Show | a0001c0007t0001g0029a0001c0007t0002g0194a0001c0012t0001g0022others(9): Show | 12 | 284 | 0.0423 | 8 | c.*49 others(19): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 4719 | chr3 | TogoVar | ||||||
ATP13A5_chr3_193269789_193383753 | 193347524 | C | CTTTTCTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG01099.hp2 others(46): Show |
a0001a0003a0009others(4): Show | a0001c0006a0001c0012a0001c0013others(6): Show | a0001c0006t0001a0001c0012t0001a0001c0013t0001others(7): Show | a0001c0006t0001g0031a0001c0012t0001g0020a0001c0012t0001g0022others(44): Show | 49 | 284 | 0.1725 | 8 | c.742 others(25): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 7/29 | chr3 | TogoVar | ||||||
ATP13A5_chr3_193269789_193383753 | 193368392 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01261.hp2 HG01993.hp2 others(28): Show |
a0001a0003a0005others(5): Show | a0001c0007a0003c0002a0005c0004others(7): Show | a0001c0007t0001a0003c0002t0001a0005c0004t0002others(7): Show | a0001c0007t0001g0003a0001c0007t0001g0175a0001c0007t0001g0176others(25): Show | 31 | 284 | 0.1092 | 8 | c.64- others(23): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 1/29 | chr3 | TogoVar | ||||||
ATP13A5_chr3_193269789_193383753 | 193374301 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02055.hp2 HG02615.hp2 others(8): Show |
a0001a0003a0009others(1): Show | a0001c0007a0003c0002a0009c0009others(1): Show | a0001c0007t0002a0003c0002t0002a0009c0009t0002others(1): Show | a0001c0007t0002g0190a0001c0007t0002g0191a0001c0007t0002g0194others(8): Show | 11 | 284 | 0.0387 | 8 | c.63+ others(23): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 1/29 | chr3 | TogoVar | ||||||
ATP1A2_chr1_160110759_160148591 | 160111082 | T | TTGCTGTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(102): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0011others(79): Show | 105 | 414 | 0.2536 | 8 | c.-47 others(19): Show |
ATP1A2 | ENSG00000018625.15 | transcript | ENST00000361216.8 | protein_coding | 4676 | chr1 | TogoVar | ||||||
ATP1A2_chr1_160110759_160148591 | 160111638 | T | TTTTATTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG01934.hp1 HG02040.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0093a0001c0001t0001g0254others(15): Show | 18 | 414 | 0.0435 | 8 | c.-42 others(19): Show |
ATP1A2 | ENSG00000018625.15 | transcript | ENST00000361216.8 | protein_coding | 4120 | chr1 | TogoVar | ||||||
ATP1A3_chr19_41961582_41999230 | 41972804 | G | GGGAAGGA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG00735.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0017a0001c0001t0001g0054a0001c0001t0001g0057others(34): Show | 37 | 282 | 0.1312 | 8 | c.226 others(27): Show |
ATP1A3 | ENSG00000105409.19 | transcript | ENST00000648268.1 | protein_coding | 16/22 | chr19 | TogoVar | ||||||
ATP1A3_chr19_41961582_41999230 | 41972871 | A | AAGGCAGG others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG03195.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0021a0001c0001t0002g0248a0001c0001t0002g0264 | 3 | 282 | 0.0106 | 8 | c.226 others(27): Show |
ATP1A3 | ENSG00000105409.19 | transcript | ENST00000648268.1 | protein_coding | 16/22 | chr19 | TogoVar | ||||||
ATP1A4_chr1_160146603_160191980 | 160186086 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01243.hp2 HG01433.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0044others(1): Show | a0001c0001t0001a0001c0005t0001a0001c0044t0005others(1): Show | a0001c0001t0001g0105a0001c0001t0001g0248a0001c0001t0001g0259others(7): Show | 10 | 418 | 0.0239 | 8 | c.297 others(25): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP1B1_chr1_169101690_169137719 | 169135014 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG01934.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0094a0001c0001t0001g0255a0001c0001t0002g0001others(10): Show | 14 | 412 | 0.0340 | 8 | c.*34 others(19): Show |
ATP1B1 | ENSG00000143153.14 | transcript | ENST00000367815.9 | protein_coding | 2296 | chr1 | TogoVar | ||||||
ATP1B2_chr17_7645926_7662770 | 7660810 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 HG00741.hp1 HG01256.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0013a0001c0001t0016a0001c0001t0019others(2): Show | a0001c0001t0013g0003a0001c0001t0016g0002a0001c0001t0019g0012others(2): Show | 7 | 440 | 0.0159 | 8 | c.*49 others(19): Show |
ATP1B2 | ENSG00000129244.9 | transcript | ENST00000250111.9 | protein_coding | 3041 | chr17 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141874438 | A | AAAAAATA others(1): Show |
upstream_gene_variant | MODIFIER | HG01361.hp1 HG02148.hp1 HG03831.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246a0001c0001t0001g0263a0001c0001t0001g0265others(4): Show | 7 | 408 | 0.0172 | 8 | c.-23 others(19): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2204 | chr3 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141885880 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG02040.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0112a0001c0001t0001g0121a0001c0001t0001g0220others(6): Show | 9 | 408 | 0.0221 | 8 | c.109 others(25): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP1B4_chrX_120357089_120388237 | 120374730 | T | TAATATAT others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02622.hp2 HG02818.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0048a0001c0001t0001g0170a0001c0001t0005g0049others(4): Show | 10 | 353 | 0.0283 | 8 | c.563 others(23): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 4/7 | chrX | TogoVar | ||||||
ATP1B4_chrX_120357089_120388237 | 120374762 | T | TATATATT others(1): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 353 | 0.0028 | 8 | c.563 others(23): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 4/7 | chrX | TogoVar | ||||||
ATP23_chr12_57936567_57964148 | 57937731 | C | CAAAAAAC others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(142): Show |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0002a0002c0001t0004others(5): Show | a0002c0001t0001g0001a0002c0001t0001g0005a0002c0001t0001g0023others(54): Show | 145 | 393 | 0.3690 | 8 | c.-39 others(19): Show |
ATP23 | ENSG00000166896.9 | transcript | ENST00000300145.4 | protein_coding | 3835 | chr12 | TogoVar | ||||||
ATP23_chr12_57936567_57964148 | 57955280 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02451.hp2 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002a0001c0003t0015 | a0001c0003t0001g0009a0001c0003t0001g0092a0001c0003t0002g0009others(1): Show | 8 | 393 | 0.0204 | 8 | c.538 others(25): Show |
ATP23 | ENSG00000166896.9 | transcript | ENST00000300145.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2A2_chr12_110276247_110356093 | 110293826 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02486.hp1 HG02809.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0073a0001c0001t0001g0079a0001c0001t0004g0004others(2): Show | 5 | 228 | 0.0219 | 8 | c.324 others(25): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2A2_chr12_110276247_110356093 | 110293864 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0168a0001c0001t0004g0174 | 2 | 228 | 0.0088 | 8 | c.324 others(25): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2A3_chr17_3918873_3969437 | 3940031 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02258.hp1 others(6): Show |
a0002 | a0002c0006a0002c0021a0002c0022others(1): Show | a0002c0006t0001a0002c0006t0010a0002c0006t0026others(3): Show | a0002c0006t0001g0047a0002c0006t0001g0050a0002c0006t0001g0051others(5): Show | 9 | 332 | 0.0271 | 8 | c.210 others(25): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 14/20 | chr17 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3958849 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01243.hp1 HG01346.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0002t0004a0001c0002t0008others(2): Show | a0001c0001t0001g0305a0001c0002t0004g0135a0001c0002t0008g0136others(2): Show | 5 | 332 | 0.0151 | 8 | c.119 others(25): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1/20 | chr17 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3965877 | T | TTATTATT others(1): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG01070.hp1 HG01071.hp1 others(8): Show |
a0001 | a0001c0003a0001c0004a0001c0005others(4): Show | a0001c0003t0001a0001c0003t0006a0001c0004t0001others(5): Show | a0001c0003t0001g0044a0001c0003t0006g0045a0001c0004t0001g0037others(7): Show | 11 | 332 | 0.0331 | 8 | c.-15 others(19): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1441 | chr17 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89643065 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03516.hp2 NA18962.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0159a0001c0004t0001g0034a0001c0004t0001g0119 | 3 | 332 | 0.0090 | 8 | c.209 others(23): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 2/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89643065 | T | TATACACA others(1): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01884.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0021 | a0001c0003t0001g0050a0001c0003t0001g0051a0001c0003t0001g0054others(1): Show | 4 | 332 | 0.0121 | 8 | c.209 others(23): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 2/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89658598 | G | GGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00741.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0037a0001c0001t0001g0066a0001c0001t0001g0073others(34): Show | 37 | 332 | 0.1115 | 8 | c.-22 others(27): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89659357 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01261.hp2 NA18960.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0078a0001c0001t0001g0127 | 3 | 332 | 0.0090 | 8 | c.-22 others(27): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89677960 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02723.hp1 NA19067.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0076a0001c0001t0001g0089a0001c0006t0001g0032 | 3 | 332 | 0.0090 | 8 | c.-22 others(29): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89677971 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02257.hp2 HG02717.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0007 | a0001c0001t0004g0020a0001c0001t0004g0021a0001c0001t0006g0246others(1): Show | 4 | 332 | 0.0121 | 8 | c.-22 others(29): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89695058 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00738.hp1 others(47): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0085a0001c0001t0001g0086others(46): Show | 50 | 332 | 0.1506 | 8 | c.-22 others(29): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89695067 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00558.hp1 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(7): Show | a0001c0001t0001g0103a0001c0001t0001g0108a0001c0001t0001g0181others(31): Show | 34 | 332 | 0.1024 | 8 | c.-22 others(29): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10319864 | C | CGAGAGAG others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(223): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(89): Show | a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0063others(221): Show | 226 | 290 | 0.7793 | 8 | c.*89 others(19): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 4158 | chr3 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10319864 | C | CGGGAGAG others(1): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG01891.hp1 HG02055.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0047others(10): Show | a0001c0001t0003g0135a0001c0001t0003g0141a0001c0001t0003g0219others(18): Show | 21 | 290 | 0.0724 | 8 | c.*89 others(19): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 4158 | chr3 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10486320 | C | CGTGCGTG others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02055.hp1 HG02074.hp1 others(3): Show |
a0001 | a0001c0003a0001c0004a0001c0005others(3): Show | a0001c0003t0001a0001c0004t0001a0001c0005t0001others(3): Show | a0001c0003t0001g0025a0001c0004t0001g0239a0001c0005t0001g0255others(3): Show | 6 | 290 | 0.0207 | 8 | c.-32 others(29): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar |