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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP13A5_chr3_193269789_193383753 | 193374643 | A | ACACACG | intron_variant | MODIFIER | HG01074.hp2 HG01891.hp1 HG01934.hp1 |
a0001 | a0001c0015 | a0001c0015t0002 | a0001c0015t0002g0240a0001c0015t0002g0241a0001c0015t0002g0242 | 3 | 284 | 0.0106 | 6 | c.63+ others(21): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 1/29 | chr3 | TogoVar | ||||||
ATP1A2_chr1_160110759_160148591 | 160112972 | T | TCACACA | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01993.hp1 HG01993.hp2 others(4): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0011 | a0001c0001t0001g0016a0001c0001t0001g0019a0001c0001t0001g0037others(4): Show | 7 | 414 | 0.0169 | 6 | c.-28 others(17): Show |
ATP1A2 | ENSG00000018625.15 | transcript | ENST00000361216.8 | protein_coding | 2786 | chr1 | TogoVar | ||||||
ATP1A2_chr1_160110759_160148591 | 160119256 | C | CAAAAAA | intron_variant | MODIFIER | HG00544.hp1 HG00642.hp1 HG00673.hp1 others(72): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0019a0001c0001t0001g0020others(48): Show | 75 | 414 | 0.1812 | 6 | c.13- others(21): Show |
ATP1A2 | ENSG00000018625.15 | transcript | ENST00000361216.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP1A2_chr1_160110759_160148591 | 160134235 | C | CCACACA | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp2 HG01074.hp2 others(87): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0057a0001c0001t0001g0229a0001c0001t0001g0270others(48): Show | 90 | 414 | 0.2174 | 6 | c.182 others(23): Show |
ATP1A2 | ENSG00000018625.15 | transcript | ENST00000361216.8 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP1A2_chr1_160110759_160148591 | 160140846 | C | CTTTTTT | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02257.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0008a0001c0001t0025a0001c0004t0009others(2): Show | a0001c0001t0008g0222a0001c0001t0008g0258a0001c0001t0008g0265others(5): Show | 8 | 414 | 0.0193 | 6 | c.303 others(23): Show |
ATP1A2 | ENSG00000018625.15 | transcript | ENST00000361216.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP1A4_chr1_160146603_160191980 | 160150939 | A | AAACTGC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(114): Show |
a0002a0009a0013others(4): Show | a0002c0002a0002c0006a0002c0009others(10): Show | a0002c0002t0002a0002c0002t0007a0002c0002t0011others(14): Show | a0002c0002t0002g0006a0002c0002t0002g0121a0002c0002t0002g0134others(109): Show | 117 | 418 | 0.2799 | 6 | c.-11 others(17): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 663 | chr1 | TogoVar | ||||||
ATP1B1_chr1_169101690_169137719 | 169106619 | C | CCCGCCG | upstream_gene_variant | MODIFIER | HG02027.hp1 HG02132.hp2 HG02135.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0002g0125a0001c0001t0002g0190a0001c0001t0002g0236others(4): Show | 7 | 412 | 0.0170 | 6 | c.-21 others(15): Show |
ATP1B1 | ENSG00000143153.14 | transcript | ENST00000367815.9 | protein_coding | 70 | chr1 | TogoVar | ||||||
ATP1B1_chr1_169101690_169137719 | 169107884 | A | ACATCAT | intron_variant | MODIFIER | HG00741.hp2 HG01074.hp1 HG01081.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0055others(10): Show | 15 | 412 | 0.0364 | 6 | c.97+ others(19): Show |
ATP1B1 | ENSG00000143153.14 | transcript | ENST00000367815.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP1B1_chr1_169101690_169137719 | 169122770 | T | TTTTTTA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(66): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0020others(59): Show | 69 | 412 | 0.1675 | 6 | c.227 others(23): Show |
ATP1B1 | ENSG00000143153.14 | transcript | ENST00000367815.9 | protein_coding | 2/5 | chr1 | TogoVar | ||||||
ATP1B1_chr1_169101690_169137719 | 169123585 | C | CTCTATA | intron_variant | MODIFIER | HG02886.hp2 NA18522.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0031a0001c0001t0005g0296 | 3 | 412 | 0.0073 | 6 | c.227 others(23): Show |
ATP1B1 | ENSG00000143153.14 | transcript | ENST00000367815.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP1B1_chr1_169101690_169137719 | 169135014 | C | CAAAAAA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(100): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0029others(88): Show | 103 | 412 | 0.2500 | 6 | c.*34 others(17): Show |
ATP1B1 | ENSG00000143153.14 | transcript | ENST00000367815.9 | protein_coding | 2296 | chr1 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141874438 | A | AAAATAT | upstream_gene_variant | MODIFIER | HG00280.hp1 HG02027.hp1 HG02132.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0008a0001c0001t0001g0247a0001c0001t0001g0249others(8): Show | 11 | 408 | 0.0270 | 6 | c.-23 others(17): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2204 | chr3 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141879811 | C | CTTTTTT | intron_variant | MODIFIER | HG00741.hp1 HG01081.hp1 HG01257.hp2 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0024a0001c0001t0001g0032a0001c0001t0001g0043others(40): Show | 43 | 408 | 0.1054 | 6 | c.109 others(23): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP1B3_chr3_141871643_141931549 | 141885880 | A | AACACAC | intron_variant | MODIFIER | HG00280.hp2 HG01167.hp2 HG01433.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0122others(8): Show | 11 | 408 | 0.0270 | 6 | c.109 others(23): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP1B3_chr3_141871643_141931549 | 141889756 | T | TACACAC | intron_variant | MODIFIER | HG00621.hp1 NA18941.hp2 NA18959.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0108a0001c0001t0001g0109a0001c0001t0001g0133others(5): Show | 8 | 408 | 0.0196 | 6 | c.109 others(25): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP1B3_chr3_141871643_141931549 | 141904703 | C | CTTTTTT | intron_variant | MODIFIER | HG00544.hp1 HG00642.hp2 HG02132.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0016a0001c0001t0018 | a0001c0001t0004g0339a0001c0001t0004g0346a0001c0001t0004g0361others(11): Show | 14 | 408 | 0.0343 | 6 | c.238 others(21): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP1B3_chr3_141871643_141931549 | 141927015 | C | CAAAAAA | downstream_gene_variant | MODIFIER | HG00544.hp1 HG01069.hp2 HG01516.hp2 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0043a0001c0001t0001g0246a0001c0001t0004g0010others(42): Show | 45 | 408 | 0.1103 | 6 | c.*13 others(17): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 467 | chr3 | TogoVar | ||||||
ATP1B4_chrX_120357089_120388237 | 120370230 | G | GCAAGTC | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 353 | 0.0028 | 6 | c.329 others(21): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP1B4_chrX_120357089_120388237 | 120374634 | A | ATATATT | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0028 | 2 | 353 | 0.0057 | 6 | c.563 others(21): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 4/7 | chrX | TogoVar | ||||||
ATP1B4_chrX_120357089_120388237 | 120374712 | T | TTATATA | intron_variant | MODIFIER | HG02258.hp1 HG02622.hp2 HG02818.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0048a0001c0001t0001g0170a0001c0001t0005g0049others(4): Show | 10 | 353 | 0.0283 | 6 | c.563 others(21): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP1B4_chrX_120357089_120388237 | 120374762 | T | TATATTA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00733.hp1 others(34): Show |
a0001a0003a0007 | a0001c0001a0003c0003a0007c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0016a0001c0001t0001g0181a0001c0001t0001g0182others(21): Show | 37 | 353 | 0.1048 | 6 | c.563 others(21): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 4/7 | chrX | TogoVar | ||||||
ATP1B4_chrX_120357089_120388237 | 120374766 | A | ATACCCT | intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084 | 1 | 353 | 0.0028 | 6 | c.563 others(21): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP2A1_chr16_28873488_28909466 | 28891589 | C | CAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(277): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(15): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(231): Show | 280 | 380 | 0.7368 | 6 | c.109 others(25): Show |
ATP2A1 | ENSG00000196296.14 | transcript | ENST00000395503.9 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP2A2_chr12_110276247_110356093 | 110293824 | A | ATGTGTG | intron_variant | MODIFIER | HG00423.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072a0001c0001t0001g0092 | 2 | 228 | 0.0088 | 6 | c.324 others(23): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2A2_chr12_110276247_110356093 | 110293826 | A | ATGTGTG | intron_variant | MODIFIER | HG00423.hp1 HG01099.hp1 HG01167.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0006a0001c0001t0001g0021a0001c0001t0001g0037others(20): Show | 23 | 228 | 0.1009 | 6 | c.324 others(23): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2A2_chr12_110276247_110356093 | 110302584 | C | CTATTAT | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01069.hp2 others(11): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0006a0001c0005t0009 | a0001c0001t0001g0007a0001c0001t0001g0105a0001c0001t0001g0108others(11): Show | 14 | 228 | 0.0614 | 6 | c.463 others(23): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2A3_chr17_3918873_3969437 | 3939786 | T | TTAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(23): Show |
a0001 | a0001c0002a0001c0004a0001c0008others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(12): Show | a0001c0002t0001g0128a0001c0002t0002g0119a0001c0002t0002g0142others(22): Show | 26 | 332 | 0.0783 | 6 | c.210 others(25): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 14/20 | chr17 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3958789 | T | TACACAC | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00735.hp2 others(29): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0025a0001c0002t0001others(14): Show | a0001c0001t0001g0297a0001c0001t0001g0298a0001c0001t0001g0301others(28): Show | 32 | 332 | 0.0964 | 6 | c.119 others(23): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1/20 | chr17 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3965847 | A | ATATTAT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG01192.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0007others(9): Show | a0001c0001t0001g0301a0001c0001t0001g0302a0001c0001t0001g0303others(18): Show | 22 | 332 | 0.0663 | 6 | c.-15 others(17): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1411 | chr17 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89583790 | C | CGGGGGG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00544.hp1 others(17): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0065a0001c0001t0001g0087a0001c0001t0001g0091others(17): Show | 20 | 332 | 0.0602 | 6 | c.*71 others(17): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 4258 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89598039 | C | CAAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp1 HG02145.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0005a0001c0002t0001a0001c0002t0003others(1): Show | a0001c0001t0005g0324a0001c0002t0001g0042a0001c0002t0001g0046others(4): Show | 7 | 332 | 0.0211 | 6 | c.335 others(25): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 20/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89643065 | T | TACACAC | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(87): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0004t0001others(2): Show | a0001c0001t0001g0057a0001c0001t0001g0058a0001c0001t0001g0059others(87): Show | 90 | 332 | 0.2711 | 6 | c.209 others(21): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 2/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89658598 | G | GGAGAGA | intron_variant | MODIFIER | HG00099.hp1 HG00621.hp1 HG00735.hp2 others(49): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0036a0001c0001t0001g0063a0001c0001t0001g0065others(49): Show | 52 | 332 | 0.1566 | 6 | c.-22 others(25): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89659357 | A | AACACAC | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00544.hp1 others(81): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0001t0006a0001c0004t0001others(1): Show | a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0060others(81): Show | 84 | 332 | 0.2530 | 6 | c.-22 others(25): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89677965 | T | TACACAC | intron_variant | MODIFIER | NA18747.hp1 NA18998.hp1 NA19068.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0126a0001c0001t0001g0185a0001c0001t0001g0207others(2): Show | 5 | 332 | 0.0151 | 6 | c.-22 others(27): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89677971 | T | TACACAC | intron_variant | MODIFIER | HG02559.hp2 HG02572.hp1 HG02615.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0004a0001c0001t0004g0008a0001c0001t0004g0017others(4): Show | 7 | 332 | 0.0211 | 6 | c.-22 others(27): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89695058 | C | CAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG01070.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(1): Show | a0001c0001t0001g0068a0001c0001t0001g0090a0001c0001t0001g0091others(29): Show | 32 | 332 | 0.0964 | 6 | c.-22 others(27): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10356147 | C | CGTGTGT | intron_variant | MODIFIER | HG02572.hp1 HG02698.hp1 NA20752.hp2 |
a0001 | a0001c0009a0001c0015a0001c0034 | a0001c0009t0001a0001c0015t0001a0001c0034t0006 | a0001c0009t0001g0043a0001c0015t0001g0023a0001c0034t0006g0134 | 3 | 290 | 0.0103 | 6 | c.213 others(25): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 14/22 | chr3 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10382197 | A | ATTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG00642.hp2 HG00735.hp2 others(54): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0063others(54): Show | 57 | 290 | 0.1966 | 6 | c.100 others(25): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 8/22 | chr3 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10486326 | T | TGTGTGC | intron_variant | MODIFIER | HG01071.hp2 HG01255.hp1 HG01891.hp2 others(37): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(26): Show | a0001c0001t0001g0146a0001c0001t0003g0219a0001c0001t0014g0251others(36): Show | 40 | 290 | 0.1379 | 6 | c.-32 others(27): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10486330 | T | TGCGTGC | intron_variant | MODIFIER | HG02572.hp2 HG02615.hp1 HG02723.hp2 others(4): Show |
a0001 | a0001c0003a0001c0016a0001c0024others(1): Show | a0001c0003t0004a0001c0003t0007a0001c0003t0027others(3): Show | a0001c0003t0004g0194a0001c0003t0007g0192a0001c0003t0007g0193others(4): Show | 7 | 290 | 0.0241 | 6 | c.-32 others(27): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ATP2B3_chrX_153512642_153587929 | 153563136 | C | CTTTTTT | intron_variant | MODIFIER | HG02055.hp1 NA18977.hp1 |
a0001 | a0001c0002a0001c0010 | a0001c0002t0002a0001c0010t0005 | a0001c0002t0002g0187a0001c0010t0005g0173 | 2 | 267 | 0.0075 | 6 | c.315 others(23): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP2B3_chrX_153512642_153587929 | 153571003 | T | TACACAC | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01069.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0027a0001c0001t0001g0030a0001c0001t0001g0062others(29): Show | 32 | 267 | 0.1199 | 6 | c.334 others(25): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203626272 | G | GGTGTGT | upstream_gene_variant | MODIFIER | HG01978.hp2 HG02135.hp2 HG03098.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0022others(1): Show | a0001c0001t0001g0068a0001c0001t0001g0077a0001c0001t0002g0193others(2): Show | 5 | 318 | 0.0157 | 6 | c.-14 others(17): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 559 | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203672324 | C | CTTTTTT | intron_variant | MODIFIER | HG01258.hp2 HG02056.hp2 HG03710.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0016a0001c0001t0001g0062a0001c0001t0003g0001others(2): Show | 6 | 318 | 0.0189 | 6 | c.-46 others(27): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203686685 | C | CTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG01168.hp1 HG01168.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0092a0001c0001t0001g0116a0001c0001t0002g0268others(12): Show | 15 | 318 | 0.0472 | 6 | c.193 others(23): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203687994 | G | GATGATT | intron_variant | MODIFIER | HG01071.hp2 HG02258.hp2 HG02451.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0068a0001c0001t0001g0156a0001c0001t0002g0051others(7): Show | 10 | 318 | 0.0315 | 6 | c.193 others(23): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203703164 | C | CGAGAGA | intron_variant | MODIFIER | HG02451.hp1 HG03195.hp1 HG03579.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0008 | a0001c0001t0001g0116a0001c0002t0008g0250a0001c0002t0008g0312others(1): Show | 4 | 318 | 0.0126 | 6 | c.938 others(21): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203719325 | A | ATTGCCT | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(121): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0016others(121): Show | 124 | 318 | 0.3899 | 6 | c.240 others(25): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203723420 | A | ATCTCTC | intron_variant | MODIFIER | HG00621.hp2 HG02135.hp1 HG02896.hp2 others(5): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0079a0001c0001t0001g0109a0001c0001t0003g0161others(5): Show | 8 | 318 | 0.0252 | 6 | c.302 others(23): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |