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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP6V1E2_chr2_46506847_46547577 | 46518490 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02273.hp1 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069a0001c0001t0001g0075a0001c0001t0001g0222 | 3 | 410 | 0.0073 | 12 | c.-10 others(31): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 4/4 | chr2 | TogoVar | ||||||
ATP6V1E2_chr2_46506847_46547577 | 46518758 | T | TTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 410 | 0.0024 | 12 | c.-10 others(31): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 4/4 | chr2 | TogoVar | ||||||
ATP6V1E2_chr2_46506847_46547577 | 46540613 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0130 | 1 | 410 | 0.0024 | 12 | c.-31 others(29): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 2/4 | chr2 | TogoVar | ||||||
ATP6V1FNB_chr7_128861330_128877047 | 128876369 | A | ATGTGTGT others(5): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00609.hp1 others(96): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0002g0002a0001c0001t0002g0006others(9): Show | 99 | 442 | 0.2240 | 12 | c.*75 others(23): Show |
ATP6V1FNB | ENSG00000272899.4 | transcript | ENST00000609480.4 | protein_coding | 4323 | chr7 | TogoVar | ||||||
ATP6V1G1_chr9_114582769_114603879 | 114588510 | A | AGTGTGTG others(5): Show |
intron_variant | MODIFIER | NA18947.hp2 NA18953.hp1 NA18956.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0023a0001c0001t0006g0018a0001c0001t0006g0058 | 8 | 420 | 0.0191 | 12 | c.82+ others(25): Show |
ATP6V1G1 | ENSG00000136888.8 | transcript | ENST00000374050.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ATP6V1G3_chr1_198518222_198545680 | 198538891 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01167.hp2 HG01169.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0041a0001c0001t0002g0042a0001c0001t0002g0090others(1): Show | 6 | 405 | 0.0148 | 12 | c.82+ others(27): Show |
ATP6V1G3 | ENSG00000151418.12 | transcript | ENST00000367382.6 | protein_coding | 1/2 | chr1 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53748209 | T | TAAGCTCC others(5): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 286 | 0.0035 | 12 | c.127 others(31): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53755685 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 286 | 0.0035 | 12 | c.127 others(29): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53765454 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 286 | 0.0035 | 12 | c.117 others(31): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | TogoVar | ||||||
ATP7A_chrX_77905693_78055395 | 77956726 | C | CCTTTCTT others(5): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00738.hp1 HG01074.hp1 others(17): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0101a0001c0001t0001g0179a0001c0001t0004g0027others(17): Show | 20 | 233 | 0.0858 | 12 | c.-21 others(31): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 78022505 | G | GTTTGTTT others(5): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01255.hp1 HG01258.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0072a0002c0002t0002g0077a0002c0002t0003g0029others(4): Show | 7 | 233 | 0.0300 | 12 | c.291 others(31): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 78037980 | G | GTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG00735.hp1 others(20): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0002c0002t0003a0002c0002t0006others(2): Show | a0002c0002t0002g0023a0002c0002t0002g0037a0002c0002t0002g0040others(20): Show | 23 | 233 | 0.0987 | 12 | c.351 others(29): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7B_chr13_51927669_52016450 | 51953851 | T | TAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02451.hp1 others(4): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0020a0003c0003t0006a0003c0003t0013 | a0002c0002t0020g0054a0003c0003t0006g0164a0003c0003t0006g0165others(4): Show | 7 | 302 | 0.0232 | 12 | c.244 others(31): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 9/20 | chr13 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42446080 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG03834.hp2 NA18969.hp1 NA18983.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0046a0001c0001t0001g0048a0001c0001t0001g0060others(6): Show | 9 | 310 | 0.0290 | 12 | c.295 others(29): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 31/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42446098 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02897.hp2 HG03041.hp2 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0004a0002c0005t0004 | a0001c0001t0004g0031a0002c0005t0004g0037a0002c0005t0004g0041 | 3 | 310 | 0.0097 | 12 | c.295 others(29): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 31/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42448390 | C | CTTTTACT others(5): Show |
intron_variant | MODIFIER | NA18956.hp2 NA18978.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0035 | a0001c0001t0009g0221a0001c0001t0035g0244 | 2 | 310 | 0.0065 | 12 | c.289 others(31): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 30/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42448401 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG02897.hp2 others(3): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0011 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0067a0001c0001t0004g0031a0001c0001t0005g0186others(3): Show | 6 | 310 | 0.0194 | 12 | c.289 others(31): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 30/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42479995 | C | CGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0224 | 1 | 310 | 0.0032 | 12 | c.232 others(31): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 25/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42479996 | T | TTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00733.hp1 HG00735.hp2 others(46): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0046a0001c0001t0001g0067a0001c0001t0001g0071others(46): Show | 49 | 310 | 0.1581 | 12 | c.232 others(31): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 25/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42555085 | G | GTATCTAT others(5): Show |
intron_variant | MODIFIER | HG00639.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008 | a0001c0001t0007g0122a0001c0001t0008g0017 | 2 | 310 | 0.0065 | 12 | c.141 others(29): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42555138 | T | TATCTATC others(5): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0123 | 1 | 310 | 0.0032 | 12 | c.141 others(29): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42555139 | A | AATCTATC others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG01256.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0164a0001c0001t0002g0174a0001c0001t0002g0175others(2): Show | 5 | 310 | 0.0161 | 12 | c.141 others(29): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42555139 | A | ATCTAATC others(5): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0173 | 1 | 310 | 0.0032 | 12 | c.141 others(29): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42555139 | A | ATCTAATC others(5): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0268 | 1 | 310 | 0.0032 | 12 | c.141 others(29): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42555139 | A | ATCTATCT others(5): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01256.hp1 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0015a0001c0001t0003g0243a0001c0001t0003g0274 | 3 | 310 | 0.0097 | 12 | c.141 others(29): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42555139 | A | ATCTATCT others(5): Show |
intron_variant | MODIFIER | HG01928.hp2 NA18940.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0013 | a0001c0001t0001g0050a0001c0002t0013g0091 | 2 | 310 | 0.0065 | 12 | c.141 others(29): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42576475 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01106.hp1 NA18980.hp2 NA19079.hp2 |
a0001a0004 | a0001c0001a0004c0011 | a0001c0001t0001a0001c0001t0008a0004c0011t0005 | a0001c0001t0001g0158a0001c0001t0008g0137a0004c0011t0005g0228 | 3 | 310 | 0.0097 | 12 | c.112 others(29): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 12/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42635778 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 310 | 0.0032 | 12 | c.50- others(27): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42635780 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG02738.hp2 NA18953.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0146a0001c0001t0003g0204 | 2 | 310 | 0.0065 | 12 | c.50- others(27): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42635782 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG02523.hp1 HG02970.hp2 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012 | a0001c0001t0003g0254a0001c0001t0003g0257a0001c0001t0012g0289 | 3 | 310 | 0.0097 | 12 | c.50- others(27): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42636154 | A | ACGCGTGC others(5): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0005 | 1 | 310 | 0.0032 | 12 | c.50- others(27): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42657060 | C | CGGTGGCG others(5): Show |
5_prime_UTR_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0310 | 1 | 310 | 0.0032 | 12 | c.-19 others(21): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/37 | 188 | chr4 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25435918 | T | TGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01070.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0011others(30): Show | a0001c0001t0002g0079a0001c0001t0004g0046a0001c0001t0011g0062others(35): Show | 38 | 122 | 0.3115 | 12 | c.77- others(29): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25461852 | A | AAGAAGGA others(5): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0003 | a0001c0003t0062 | a0001c0003t0062g0024 | 1 | 122 | 0.0082 | 12 | c.77- others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25465663 | T | TTTTCTTT others(5): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0025 | 1 | 122 | 0.0082 | 12 | c.77- others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25465737 | T | TTCTTTCT others(5): Show |
intron_variant | MODIFIER | HG03540.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0072a0001c0016t0045 | a0001c0001t0072g0027a0001c0016t0045g0105 | 2 | 122 | 0.0164 | 12 | c.77- others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25465748 | C | CCTCCCTC others(5): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0019 | a0001c0019t0007 | a0001c0019t0007g0029 | 1 | 122 | 0.0082 | 12 | c.77- others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25465755 | C | CTCTCTCT others(5): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01175.hp1 HG01981.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0051a0001c0002t0002others(3): Show | a0001c0001t0004g0040a0001c0001t0051g0053a0001c0002t0002g0037others(3): Show | 6 | 122 | 0.0492 | 12 | c.77- others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25506940 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG03654.hp1 HG06807.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0001t0040a0001c0002t0005 | a0001c0001t0010g0100a0001c0001t0040g0038a0001c0002t0005g0034 | 3 | 122 | 0.0246 | 12 | c.222 others(31): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25513999 | G | GGAGGGAG others(5): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01069.hp1 HG01071.hp1 others(7): Show |
a0001 | a0001c0004a0001c0006 | a0001c0004t0002a0001c0004t0003a0001c0004t0004others(6): Show | a0001c0004t0002g0049a0001c0004t0002g0080a0001c0004t0003g0007others(7): Show | 10 | 122 | 0.0820 | 12 | c.222 others(31): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25524886 | A | ACTTCCTT others(5): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0114 | 1 | 122 | 0.0082 | 12 | c.222 others(29): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25531421 | A | ATTATATA others(5): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0062a0001c0001t0011g0063 | 2 | 122 | 0.0164 | 12 | c.420 others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25701723 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0062a0001c0001t0011g0063 | 2 | 122 | 0.0164 | 12 | c.238 others(31): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25720167 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02273.hp1 HG02886.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0009a0001c0001t0011a0001c0001t0064others(5): Show | a0001c0001t0009g0065a0001c0001t0011g0061a0001c0001t0064g0072others(5): Show | 8 | 122 | 0.0656 | 12 | c.238 others(33): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25762268 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0005 | a0001c0005t0044 | a0001c0005t0044g0018 | 1 | 122 | 0.0082 | 12 | c.238 others(31): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25794820 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02976.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0066a0001c0002t0039 | a0001c0001t0066g0092a0001c0002t0039g0099 | 2 | 122 | 0.0164 | 12 | c.267 others(33): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25829668 | G | GTATATAT others(5): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01261.hp2 HG03540.hp2 |
a0001 | a0001c0001a0001c0002a0001c0016 | a0001c0001t0017a0001c0002t0031a0001c0016t0045 | a0001c0001t0017g0051a0001c0002t0031g0058a0001c0016t0045g0105 | 3 | 122 | 0.0246 | 12 | c.275 others(31): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25829668 | G | GTGTATAT others(5): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0072 | a0001c0001t0072g0027 | 1 | 122 | 0.0082 | 12 | c.275 others(31): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25853394 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | HG00738.hp1 HG03098.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0009a0001c0003t0060 | a0001c0001t0009g0065a0001c0003t0060g0115 | 2 | 122 | 0.0164 | 12 | c.295 others(31): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 30/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25889245 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02630.hp1 HG02723.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0030a0001c0002t0070a0001c0003t0001others(5): Show | a0001c0001t0030g0087a0001c0002t0070g0068a0001c0003t0001g0106others(5): Show | 8 | 122 | 0.0656 | 12 | c.318 others(33): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |