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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP13A4_chr3_193393967_193559895 | 193437103 | C | CAAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG01081.hp2 others(25): Show |
a0001a0002a0011 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0204 a0001c0001t0002g0188 a0001c0001t0002g0189 others(25): Show |
28 | 238 | 0.1176 | 6 | c.267 others(25): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 23/29 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193270069 | A | AATACAC | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01070.hp2 HG01192.hp2 others(28): Show |
a0001a0003a0004others(8): Show | a0001c0006a0003c0002a0004c0003others(8): Show | a0001c0006t0001a0003c0002t0001a0003c0002t0002others(11): Show | a0001c0006t0001g0165 a0003c0002t0001g0033 a0003c0002t0001g0055 others(26): Show |
31 | 73 | 0.4247 | 6 | c.*49 others(17): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 4719 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193284007 | G | GATTATT | intron_variant | MODIFIER | HG00423.hp1 HG02074.hp1 HG02717.hp1 others(2): Show |
a0002a0003a0004others(1): Show | a0002c0001a0003c0002a0004c0003others(1): Show | a0002c0001t0001a0003c0002t0001a0004c0003t0002others(1): Show | a0002c0001t0001g0112 a0002c0001t0001g0113 a0003c0002t0001g0096 others(2): Show |
5 | 49 | 0.1020 | 6 | c.322 others(23): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 27/29 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193303908 | C | CACACAT | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp2 HG02615.hp1 others(6): Show |
a0009a0011 | a0009c0009a0011c0017 | a0009c0009t0001a0009c0009t0002a0011c0017t0002 | a0009c0009t0001g0010 a0009c0009t0001g0052 a0009c0009t0001g0111 others(5): Show |
9 | 282 | 0.0319 | 6 | c.267 others(25): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 23/29 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193312928 | T | TATGGTG | intron_variant | MODIFIER | HG00733.hp1 HG01074.hp2 HG01891.hp2 others(16): Show |
a0001a0004a0025others(1): Show | a0001c0007a0001c0015a0004c0003others(2): Show | a0001c0007t0001a0001c0007t0002a0001c0015t0002others(3): Show | a0001c0007t0001g0003 a0001c0007t0001g0030 a0001c0007t0001g0154 others(14): Show |
19 | 282 | 0.0674 | 6 | c.232 others(23): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 19/29 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193360028 | T | TTTTTTA | intron_variant | MODIFIER | NA18950.hp2 NA18963.hp1 NA18991.hp2 others(2): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0135 a0002c0001t0001g0136 a0002c0001t0001g0147 others(2): Show |
5 | 282 | 0.0177 | 6 | c.536 others(23): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 5/29 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193368392 | T | TTGTGTG | intron_variant | MODIFIER | HG01106.hp2 HG02109.hp2 HG02145.hp2 others(8): Show |
a0001a0003a0004others(3): Show | a0001c0007a0003c0002a0004c0003others(3): Show | a0001c0007t0001a0003c0002t0001a0004c0003t0001others(4): Show | a0001c0007t0001g0030 a0003c0002t0001g0018 a0003c0002t0001g0093 others(8): Show |
11 | 24 | 0.4583 | 6 | c.64- others(21): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193372312 | A | AAAAAGG | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00642.hp2 others(23): Show |
a0001a0002a0003others(4): Show | a0001c0006a0001c0007a0002c0001others(6): Show | a0001c0006t0001a0001c0007t0001a0002c0001t0001others(6): Show | a0001c0006t0001g0012 a0001c0006t0001g0013 a0001c0006t0001g0161 others(20): Show |
26 | 41 | 0.6341 | 6 | c.63+ others(21): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193374276 | G | GCACACA | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp2 HG03041.hp2 |
a0003a0015 | a0003c0041a0015c0022 | a0003c0041t0002a0015c0022t0002 | a0003c0041t0002g0197 a0015c0022t0002g0195 a0015c0022t0002g0196 |
3 | 276 | 0.0109 | 6 | c.63+ others(21): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193374301 | C | CACACAG | intron_variant | MODIFIER | HG01070.hp2 HG01192.hp2 HG01243.hp2 others(5): Show |
a0005a0007a0021 | a0005c0005a0007c0008a0021c0032 | a0005c0005t0002a0007c0008t0002a0021c0032t0002 | a0005c0005t0002g0203 a0005c0005t0002g0208 a0005c0005t0002g0209 others(5): Show |
8 | 40 | 0.2000 | 6 | c.63+ others(21): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193374643 | A | ACACACG | intron_variant | MODIFIER | HG01074.hp2 HG01891.hp1 HG01934.hp1 |
a0001 | a0001c0015 | a0001c0015t0002 | a0001c0015t0002g0239 a0001c0015t0002g0240 a0001c0015t0002g0241 |
3 | 282 | 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 | a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0037 others(4): Show |
7 | 152 | 0.0461 | 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 |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0020 others(48): Show |
75 | 76 | 0.9868 | 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 | a0001c0001t0001g0057 a0001c0001t0001g0227 a0001c0001t0001g0268 others(48): Show |
90 | 199 | 0.4523 | 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 | a0001c0001t0008g0220 a0001c0001t0008g0256 a0001c0001t0008g0263 others(5): Show |
8 | 175 | 0.0457 | 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(113): Show |
a0002a0009a0011others(4): Show | a0002c0002a0002c0006a0002c0009others(10): Show | a0002c0002t0002a0002c0002t0007a0002c0002t0011others(14): Show | a0002c0002t0002g0006 a0002c0002t0002g0121 a0002c0002t0002g0134 others(108): Show |
116 | 416 | 0.2788 | 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 | a0001c0001t0002g0167 a0001c0001t0002g0213 a0001c0001t0002g0260 others(4): Show |
7 | 63 | 0.1111 | 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 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0057 others(10): Show |
15 | 406 | 0.0369 | 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 | a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0022 others(59): Show |
69 | 197 | 0.3503 | 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 | a0001c0001t0005g0031 a0001c0001t0005g0294 |
3 | 212 | 0.0142 | 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 | a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0029 others(87): Show |
103 | 182 | 0.5659 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0249 a0001c0001t0001g0251 others(8): Show |
11 | 116 | 0.0948 | 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 | a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0047 others(40): Show |
43 | 190 | 0.2263 | 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 | a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0146 others(8): Show |
11 | 129 | 0.0853 | 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 | a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0132 others(5): Show |
8 | 231 | 0.0346 | 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 | a0001c0001t0004g0337 a0001c0001t0004g0346 a0001c0001t0004g0355 others(11): Show |
14 | 168 | 0.0833 | 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 | a0001c0001t0001g0045 a0001c0001t0001g0248 a0001c0001t0004g0011 others(41): Show |
45 | 167 | 0.2695 | 6 | c.*13 others(17): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 467 | chr3 | 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 | a0001c0001t0001g0048 a0001c0001t0001g0162 a0001c0001t0005g0049 others(4): Show |
10 | 351 | 0.0285 | 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 |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0012 a0001c0001t0001g0172 a0001c0001t0001g0173 others(21): Show |
37 | 339 | 0.1091 | 6 | c.563 others(21): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 4/7 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(215): Show |
280 | 332 | 0.8434 | 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 | a0001c0001t0001g0071 a0001c0001t0001g0091 |
2 | 225 | 0.0089 | 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 | a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0036 others(20): Show |
23 | 121 | 0.1901 | 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 | a0001c0001t0001g0008 a0001c0001t0001g0104 a0001c0001t0001g0105 others(11): Show |
14 | 53 | 0.2642 | 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 | a0001c0002t0001g0131 a0001c0002t0002g0124 a0001c0002t0002g0145 others(22): Show |
26 | 140 | 0.1857 | 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 | a0001c0001t0001a0001c0001t0024a0001c0002t0001others(13): Show | a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 others(28): Show |
32 | 221 | 0.1448 | 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(8): Show | a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 others(18): Show |
22 | 320 | 0.0688 | 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 | a0001c0001t0001g0065 a0001c0001t0001g0087 a0001c0001t0001g0091 others(17): Show |
20 | 114 | 0.1754 | 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 | a0001c0001t0005g0322 a0001c0002t0001g0046 a0001c0002t0001g0047 others(4): Show |
7 | 18 | 0.3889 | 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 | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 others(87): Show |
90 | 243 | 0.3704 | 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 | a0001c0001t0001g0036 a0001c0001t0001g0063 a0001c0001t0001g0065 others(49): Show |
52 | 97 | 0.5361 | 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 | a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 others(81): Show |
84 | 245 | 0.3429 | 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 | a0001c0001t0001g0126 a0001c0001t0001g0185 a0001c0001t0001g0192 others(2): Show |
5 | 280 | 0.0179 | 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 | a0001c0001t0004g0004 a0001c0001t0004g0008 a0001c0001t0004g0017 others(4): Show |
7 | 215 | 0.0326 | 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 | a0001c0001t0001g0068 a0001c0001t0001g0090 a0001c0001t0001g0091 others(29): Show |
32 | 114 | 0.2807 | 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 | a0001c0009t0001g0044 a0001c0015t0001g0024 a0001c0034t0006g0133 |
3 | 258 | 0.0116 | 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 | a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0063 others(54): Show |
57 | 115 | 0.4957 | 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 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(26): Show | a0001c0001t0001g0145 a0001c0001t0003g0218 a0001c0001t0013g0250 others(36): Show |
40 | 287 | 0.1394 | 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 | a0001c0003t0004g0193 a0001c0003t0007g0191 a0001c0003t0007g0192 others(4): Show |
7 | 228 | 0.0307 | 6 | c.-32 others(27): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | 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 | a0001c0001t0001g0009 a0001c0001t0001g0028 a0001c0001t0001g0031 others(29): Show |
32 | 68 | 0.4706 | 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 | a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0002g0195 others(2): Show |
5 | 71 | 0.0704 | 6 | c.-14 others(17): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 559 | chr1 | TogoVar |