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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP1B3_chr3_141871643_141931549 | 141904703 | CTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(56): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0024a0001c0001t0001g0032a0001c0001t0001g0043others(56): Show | 59 | 408 | 0.1446 | -2 | c.238 others(17): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP1B3_chr3_141871643_141931549 | 141907791 | CAG | C | intron_variant | MODIFIER | HG03098.hp2 HG03130.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242a0001c0001t0001g0243a0001c0001t0001g0245 | 3 | 408 | 0.0074 | -2 | c.346 others(17): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 3/6 | chr3 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141908068 | CTT | C | intron_variant | MODIFIER | HG01891.hp2 HG02129.hp2 HG02257.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0003g0037a0001c0001t0003g0106a0001c0001t0003g0309others(12): Show | 15 | 408 | 0.0368 | -2 | c.346 others(17): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP1B3_chr3_141871643_141931549 | 141915019 | TAA | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(165): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(160): Show | 168 | 408 | 0.4118 | -2 | c.532 others(17): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 4/6 | chr3 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141921729 | AAG | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(168): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(163): Show | 171 | 408 | 0.4191 | -2 | c.583 others(17): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP1B3_chr3_141871643_141931549 | 141928226 | CTA | C | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01884.hp1 HG01978.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121a0001c0001t0001g0123a0001c0001t0001g0143others(5): Show | 8 | 408 | 0.0196 | -2 | c.*25 others(13): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1678 | chr3 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141928379 | CTT | C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(192): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(187): Show | 195 | 408 | 0.4779 | -2 | c.*26 others(13): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1831 | chr3 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141930429 | AAT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(69): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0117a0001c0001t0001g0135a0001c0001t0001g0136others(65): Show | 72 | 408 | 0.1765 | -2 | c.*47 others(13): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 3881 | chr3 | TogoVar | ||||||
ATP1B4_chrX_120357089_120388237 | 120359751 | TCA | T | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01884.hp2 HG02145.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0026a0001c0001t0001g0044a0001c0001t0004g0065others(7): Show | 13 | 353 | 0.0368 | -2 | c.-24 others(13): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 2337 | chrX | TogoVar | ||||||
ATP1B4_chrX_120357089_120388237 | 120360364 | CTT | C | upstream_gene_variant | MODIFIER | HG01496.hp2 HG01884.hp1 HG02451.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0055a0001c0001t0001g0134a0001c0001t0002g0189others(2): Show | 5 | 353 | 0.0142 | -2 | c.-18 others(13): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 1724 | chrX | TogoVar | ||||||
ATP1B4_chrX_120357089_120388237 | 120374606 | AAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(49): Show |
a0001a0003a0007 | a0001c0001a0003c0003a0007c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0016a0001c0001t0001g0178a0001c0001t0001g0181others(28): Show | 52 | 353 | 0.1473 | -2 | c.563 others(17): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP1B4_chrX_120357089_120388237 | 120374695 | AAT | A | intron_variant | MODIFIER | HG03942.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0110a0001c0001t0006g0061 | 2 | 353 | 0.0057 | -2 | c.563 others(17): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP1B4_chrX_120357089_120388237 | 120374746 | GGT | G | intron_variant | MODIFIER | HG02451.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0003a0001c0001t0011a0005c0008t0003 | a0001c0001t0003g0172a0001c0001t0011g0028a0005c0008t0003g0124 | 4 | 353 | 0.0113 | -2 | c.563 others(17): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP1B4_chrX_120357089_120388237 | 120374749 | GTA | G | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02602.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0005g0100others(4): Show | 8 | 353 | 0.0227 | -2 | c.563 others(17): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP1B4_chrX_120357089_120388237 | 120374761 | ATT | A | intron_variant | MODIFIER | HG01884.hp1 HG02615.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0007 | a0001c0001t0004g0131a0001c0001t0006g0129a0001c0001t0006g0132others(1): Show | 4 | 353 | 0.0113 | -2 | c.563 others(17): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 4/7 | chrX | TogoVar | ||||||
ATP1B4_chrX_120357089_120388237 | 120374785 | ATT | A | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02809.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0006g0137others(3): Show | 7 | 353 | 0.0198 | -2 | c.563 others(17): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 4/7 | chrX | TogoVar | ||||||
ATP1B4_chrX_120357089_120388237 | 120375469 | CCA | C | frameshift_variant | HIGH | NA19087.hp2 | a0005 | a0005c0008 | a0005c0008t0003 | a0005c0008t0003g0124 | 1 | 353 | 0.0028 | -2 | c.661 others(9): Show |
p.Gln others(5): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 5/8 | 741/4757 | 661/1074 | 221/357 | chrX | TogoVar | ||
ATP23_chr12_57936567_57964148 | 57942397 | GTA | G | intron_variant | MODIFIER | HG02922.hp2 HG03195.hp1 HG03516.hp2 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0012 | a0001c0004t0001g0086a0001c0004t0012g0033 | 3 | 393 | 0.0076 | -2 | c.187 others(17): Show |
ATP23 | ENSG00000166896.9 | transcript | ENST00000300145.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP23_chr12_57936567_57964148 | 57946446 | ATT | A | intron_variant | MODIFIER | HG01069.hp2 HG01123.hp1 HG01167.hp1 others(70): Show |
a0001a0005 | a0001c0003a0005c0008 | a0001c0003t0001a0001c0003t0002a0001c0003t0005others(6): Show | a0001c0003t0001g0003a0001c0003t0001g0008a0001c0003t0001g0009others(21): Show | 73 | 393 | 0.1858 | -2 | c.234 others(17): Show |
ATP23 | ENSG00000166896.9 | transcript | ENST00000300145.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP23_chr12_57936567_57964148 | 57949866 | ATC | A | intron_variant | MODIFIER | HG00544.hp1 HG01069.hp2 HG01123.hp1 others(82): Show |
a0001a0005 | a0001c0003a0005c0008 | a0001c0003t0001a0001c0003t0002a0001c0003t0005others(8): Show | a0001c0003t0001g0003a0001c0003t0001g0008a0001c0003t0001g0009others(30): Show | 85 | 393 | 0.2163 | -2 | c.316 others(19): Show |
ATP23 | ENSG00000166896.9 | transcript | ENST00000300145.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP23_chr12_57936567_57964148 | 57962182 | GGA | G | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02717.hp2 others(5): Show |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0015a0001c0004t0003g0026a0001c0004t0003g0047others(1): Show | 8 | 393 | 0.0204 | -2 | c.*52 others(13): Show |
ATP23 | ENSG00000166896.9 | transcript | ENST00000300145.4 | protein_coding | 3035 | chr12 | TogoVar | ||||||
ATP2A1_chr16_28873488_28909466 | 28875078 | TAA | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00642.hp2 others(56): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0053others(35): Show | 59 | 380 | 0.1553 | -2 | c.-35 others(13): Show |
ATP2A1 | ENSG00000196296.14 | transcript | ENST00000395503.9 | protein_coding | 3409 | chr16 | TogoVar | ||||||
ATP2A1_chr16_28873488_28909466 | 28882403 | ACT | A | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00642.hp2 others(59): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0053others(37): Show | 62 | 380 | 0.1632 | -2 | c.325 others(15): Show |
ATP2A1 | ENSG00000196296.14 | transcript | ENST00000395503.9 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP2A1_chr16_28873488_28909466 | 28899645 | CCG | C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00438.hp1 others(64): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(7): Show | a0001c0001t0001g0016a0001c0001t0001g0030a0001c0001t0001g0053others(60): Show | 67 | 380 | 0.1763 | -2 | c.176 others(19): Show |
ATP2A1 | ENSG00000196296.14 | transcript | ENST00000395503.9 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP2A2_chr12_110276247_110356093 | 110276752 | CTG | C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG01071.hp2 HG01081.hp2 others(12): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0003a0001c0008t0030 | a0001c0001t0003g0179a0001c0001t0003g0181a0001c0001t0003g0185others(12): Show | 15 | 228 | 0.0658 | -2 | c.-50 others(13): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 4494 | chr12 | TogoVar | ||||||
ATP2A2_chr12_110276247_110356093 | 110282538 | GTC | G | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp2 |
a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0220a0001c0005t0009g0221 | 2 | 228 | 0.0088 | -2 | c.119 others(15): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2A2_chr12_110276247_110356093 | 110291640 | CTT | C | intron_variant | MODIFIER | HG00323.hp1 HG01169.hp1 HG01891.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(3): Show | a0001c0001t0001g0095a0001c0001t0001g0098a0001c0001t0001g0226others(8): Show | 11 | 228 | 0.0483 | -2 | c.220 others(17): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2A2_chr12_110276247_110356093 | 110293367 | CTT | C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01943.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0049a0001c0001t0007g0050a0001c0001t0007g0051others(2): Show | 5 | 228 | 0.0219 | -2 | c.324 others(19): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2A2_chr12_110276247_110356093 | 110293387 | TTG | T | intron_variant | MODIFIER | HG01175.hp2 HG02630.hp1 HG02809.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0019 | a0001c0001t0002g0022a0001c0001t0002g0023a0001c0001t0002g0039others(14): Show | 17 | 228 | 0.0746 | -2 | c.324 others(19): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2A2_chr12_110276247_110356093 | 110293819 | CAT | C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01358.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0095a0001c0001t0001g0155a0001c0001t0003g0203 | 3 | 228 | 0.0132 | -2 | c.324 others(19): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2A2_chr12_110276247_110356093 | 110293826 | ATG | A | intron_variant | MODIFIER | HG00140.hp1 HG02145.hp2 HG02258.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0004 | a0001c0001t0001a0001c0008t0030a0002c0004t0003 | a0001c0001t0001g0100a0001c0001t0001g0102a0001c0001t0001g0105others(6): Show | 9 | 228 | 0.0395 | -2 | c.324 others(19): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2A2_chr12_110276247_110356093 | 110293870 | ATT | A | intron_variant | MODIFIER | HG00558.hp1 HG01943.hp1 HG02071.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0021a0001c0001t0001g0073a0001c0001t0001g0082others(19): Show | 22 | 228 | 0.0965 | -2 | c.324 others(19): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2A2_chr12_110276247_110356093 | 110300184 | CTT | C | intron_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01891.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0002a0001c0001t0004a0001c0001t0017others(4): Show | a0001c0001t0002g0044a0001c0001t0002g0056a0001c0001t0004g0004others(14): Show | 17 | 228 | 0.0746 | -2 | c.463 others(19): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2A2_chr12_110276247_110356093 | 110309908 | CAA | C | intron_variant | MODIFIER | HG00323.hp1 HG01167.hp1 HG01175.hp2 others(31): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0011others(5): Show | a0001c0001t0002g0022a0001c0001t0002g0023a0001c0001t0002g0042others(31): Show | 34 | 228 | 0.1491 | -2 | c.464 others(21): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2A2_chr12_110276247_110356093 | 110311732 | TAA | T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01167.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007 | a0001c0001t0002g0044a0001c0001t0002g0214a0001c0001t0002g0215others(14): Show | 17 | 228 | 0.0746 | -2 | c.464 others(21): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2A2_chr12_110276247_110356093 | 110313705 | CTT | C | intron_variant | MODIFIER | HG00735.hp1 HG01106.hp2 HG01167.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0007a0001c0001t0001g0027a0001c0001t0001g0098others(13): Show | 16 | 228 | 0.0702 | -2 | c.464 others(19): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2A2_chr12_110276247_110356093 | 110319223 | GAA | G | intron_variant | MODIFIER | HG01106.hp2 HG02572.hp2 HG02735.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(1): Show | a0001c0001t0001g0088a0001c0001t0001g0108a0001c0001t0001g0133others(4): Show | 7 | 228 | 0.0307 | -2 | c.464 others(19): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2A2_chr12_110276247_110356093 | 110320777 | TGA | T | intron_variant | MODIFIER | HG02647.hp1 HG03516.hp2 NA18522.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0112others(2): Show | 5 | 228 | 0.0219 | -2 | c.464 others(19): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2A2_chr12_110276247_110356093 | 110346190 | CTG | C | splice_region_variant others(1): Show |
LOW | HG01167.hp1 HG02280.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0169a0001c0001t0004g0170a0001c0001t0004g0171others(3): Show | 6 | 228 | 0.0263 | -2 | c.286 others(15): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2A2_chr12_110276247_110356093 | 110351098 | CAG | C | downstream_gene_variant | MODIFIER | HG03490.hp2 HG03492.hp1 |
a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0182a0002c0004t0003g0183 | 2 | 228 | 0.0088 | -2 | c.*46 others(13): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 6 | chr12 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3920550 | CTT | C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00597.hp2 others(92): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0001a0001c0001t0001g0139a0001c0001t0001g0140others(91): Show | 95 | 332 | 0.2861 | -2 | c.*48 others(13): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 3322 | chr17 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3933933 | TTC | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00639.hp2 others(40): Show |
a0001 | a0001c0002a0001c0004a0001c0008others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(16): Show | a0001c0002t0001g0128a0001c0002t0001g0165a0001c0002t0002g0119others(38): Show | 43 | 332 | 0.1295 | -2 | c.261 others(21): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 17/20 | chr17 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3936721 | TAC | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(164): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0007others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0012others(158): Show | 167 | 332 | 0.5030 | -2 | c.232 others(19): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 15/20 | chr17 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3939786 | TAA | T | intron_variant | MODIFIER | HG02523.hp2 HG03491.hp2 HG03710.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0003others(3): Show | a0001c0001t0001g0215a0001c0001t0005g0222a0001c0003t0003g0078others(5): Show | 8 | 332 | 0.0241 | -2 | c.210 others(21): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 14/20 | chr17 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3943271 | CAA | C | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(33): Show |
a0001a0002a0007 | a0001c0002a0001c0004a0001c0005others(8): Show | a0001c0002t0001a0001c0004t0001a0001c0005t0001others(12): Show | a0001c0002t0001g0165a0001c0004t0001g0035a0001c0004t0001g0037others(30): Show | 36 | 332 | 0.1084 | -2 | c.141 others(19): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 11/20 | chr17 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3946242 | CAA | C | intron_variant | MODIFIER | HG01099.hp2 HG02257.hp1 HG02486.hp2 others(6): Show |
a0001a0003 | a0001c0007a0001c0012a0001c0033others(1): Show | a0001c0007t0015a0001c0007t0031a0001c0012t0001others(4): Show | a0001c0007t0015g0131a0001c0007t0031g0130a0001c0012t0001g0039others(6): Show | 9 | 332 | 0.0271 | -2 | c.109 others(21): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 8/20 | chr17 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3952073 | CTG | C | intron_variant | MODIFIER | HG00438.hp1 NA18974.hp1 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0033 | a0001c0001t0002g0246a0001c0001t0002g0273a0001c0001t0033g0245 | 3 | 332 | 0.0090 | -2 | c.220 others(17): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 3/20 | chr17 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3954497 | ATT | A | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00642.hp1 others(57): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0025a0001c0002t0001others(34): Show | a0001c0001t0001g0140a0001c0001t0001g0298a0001c0001t0001g0301others(54): Show | 60 | 332 | 0.1807 | -2 | c.119 others(17): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1/20 | chr17 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3958773 | TAC | T | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00597.hp1 others(81): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(28): Show | a0001c0003t0001g0069a0001c0003t0001g0075a0001c0003t0001g0101others(78): Show | 84 | 332 | 0.2530 | -2 | c.119 others(19): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1/20 | chr17 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3958849 | AAT | A | intron_variant | MODIFIER | HG00642.hp1 HG02015.hp1 HG02083.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0002others(3): Show | a0001c0001t0001g0137a0001c0001t0001g0140a0001c0001t0001g0277others(9): Show | 12 | 332 | 0.0361 | -2 | c.119 others(19): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1/20 | chr17 | TogoVar |