| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ATP6V1H_chr8_53710543_53848245 | 53819547 | CATATAT | C | intron_variant | MODIFIER | HG02109.hp2 HG02886.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0037a0001c0001t0001g0041others(1): Show | 4 | 286 | 0.0140 | -6 | c.307 others(23): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | TogoVar | ||||||
| ATP7A_chrX_77905693_78055395 | 77932919 | GGGGAGA | G | intron_variant | MODIFIER | HG01109.hp1 HG02280.hp2 HG02602.hp1 others(7): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0001a0001c0001t0005a0002c0002t0014others(1): Show | a0001c0001t0001g0139a0001c0001t0005g0136a0001c0001t0005g0137others(7): Show | 10 | 233 | 0.0429 | -6 | c.-22 others(25): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP7A_chrX_77905693_78055395 | 77987444 | TTGTGTG | T | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0004 | 1 | 233 | 0.0043 | -6 | c.121 others(21): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP7A_chrX_77905693_78055395 | 78002799 | TACACAC | T | intron_variant | MODIFIER | HG00642.hp1 HG01884.hp2 HG02738.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0009 | a0001c0001t0001g0151a0001c0001t0001g0194a0004c0004t0009g0131 | 3 | 233 | 0.0129 | -6 | c.154 others(23): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP7A_chrX_77905693_78055395 | 78010570 | CTTTTTT | C | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 | 1 | 233 | 0.0043 | -6 | c.187 others(23): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP8A1_chr4_42403373_42662105 | 42441721 | ATAAACT | A | intron_variant | MODIFIER | HG01515.hp1 HG01993.hp2 HG02300.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0011 | a0001c0001t0001g0112a0001c0001t0008g0077a0001c0001t0008g0120others(3): Show | 6 | 310 | 0.0194 | -6 | c.312 others(25): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 33/36 | chr4 | TogoVar | ||||||
| ATP8A1_chr4_42403373_42662105 | 42448828 | GTTTTTT | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00733.hp1 others(89): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0027a0001c0001t0002g0014a0001c0001t0002g0015others(89): Show | 92 | 310 | 0.2968 | -6 | c.289 others(25): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 30/36 | chr4 | TogoVar | ||||||
| ATP8A1_chr4_42403373_42662105 | 42494162 | CAAAAAA | C | intron_variant | MODIFIER | HG01099.hp2 HG01884.hp1 HG02145.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0004a0001c0002t0004a0001c0002t0005others(6): Show | a0001c0001t0004g0031a0001c0002t0004g0013a0001c0002t0004g0018others(12): Show | 15 | 310 | 0.0484 | -6 | c.215 others(25): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 24/36 | chr4 | TogoVar | ||||||
| ATP8A1_chr4_42403373_42662105 | 42558030 | TCAAAAA | T | intron_variant | MODIFIER | HG01255.hp2 HG02723.hp1 HG03453.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0004others(2): Show | a0001c0001t0001g0157a0001c0001t0004g0043a0001c0002t0004g0033others(2): Show | 5 | 310 | 0.0161 | -6 | c.134 others(25): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 15/36 | chr4 | TogoVar | ||||||
| ATP8A1_chr4_42403373_42662105 | 42635780 | CACATAT | C | intron_variant | MODIFIER | HG01099.hp2 HG02818.hp2 HG03041.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0018a0002c0005t0004a0002c0005t0031 | a0001c0001t0018g0042a0002c0005t0004g0037a0002c0005t0004g0041others(2): Show | 5 | 310 | 0.0161 | -6 | c.50- others(21): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | ||||||
| ATP8A2_chr13_25366974_26030851 | 25429371 | TAAAAAA | T | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01069.hp1 others(47): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0011others(39): Show | a0001c0001t0002g0079a0001c0001t0004g0040a0001c0001t0004g0046others(47): Show | 50 | 122 | 0.4098 | -6 | c.77- others(23): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25481203 | AACAGGG | A | intron_variant | MODIFIER | HG00738.hp1 HG01358.hp1 HG02015.hp1 others(20): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0005a0001c0001t0016a0001c0001t0025others(19): Show | a0001c0001t0005g0102a0001c0001t0016g0104a0001c0001t0025g0009others(20): Show | 23 | 122 | 0.1885 | -6 | c.221 others(25): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25507259 | GTGTGTA | G | intron_variant | MODIFIER | HG01070.hp2 HG01261.hp1 HG02273.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0004a0001c0001t0008a0001c0001t0042others(11): Show | a0001c0001t0004g0046a0001c0001t0008g0073a0001c0001t0042g0059others(11): Show | 14 | 122 | 0.1148 | -6 | c.222 others(25): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25510216 | CACACAG | C | intron_variant | MODIFIER | HG00738.hp2 HG01070.hp2 HG01175.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0004a0001c0001t0008a0001c0001t0010others(19): Show | a0001c0001t0004g0040a0001c0001t0004g0046a0001c0001t0008g0073others(20): Show | 23 | 122 | 0.1885 | -6 | c.222 others(25): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25539060 | AGTGTGT | A | intron_variant | MODIFIER | HG01496.hp2 HG02559.hp1 HG02895.hp2 others(2): Show |
a0001 | a0001c0004a0001c0006a0001c0010 | a0001c0004t0002a0001c0006t0006a0001c0006t0020others(2): Show | a0001c0004t0002g0080a0001c0006t0006g0098a0001c0006t0020g0085others(2): Show | 5 | 122 | 0.0410 | -6 | c.581 others(23): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25554523 | GTGTGTA | G | intron_variant | MODIFIER | HG01109.hp2 HG01358.hp1 HG02896.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0040a0001c0003t0018a0001c0003t0061others(5): Show | a0001c0001t0040g0038a0001c0003t0018g0057a0001c0003t0061g0055others(5): Show | 8 | 122 | 0.0656 | -6 | c.118 others(23): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25693671 | GTCTCTC | G | intron_variant | MODIFIER | HG01358.hp1 HG02015.hp2 HG02055.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0019a0001c0002t0001a0001c0002t0002others(9): Show | a0001c0001t0019g0004a0001c0002t0001g0032a0001c0002t0002g0037others(9): Show | 12 | 122 | 0.0984 | -6 | c.221 others(25): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25701723 | AACACAC | A | intron_variant | MODIFIER | HG00642.hp1 HG01261.hp2 HG02258.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0020 | a0001c0001t0001a0001c0001t0017a0001c0002t0023others(1): Show | a0001c0001t0001g0036a0001c0001t0017g0051a0001c0002t0023g0013others(1): Show | 4 | 122 | 0.0328 | -6 | c.238 others(25): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25744348 | CTTCTCT | C | intron_variant | MODIFIER | HG02647.hp2 HG02809.hp1 HG03225.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0030a0001c0002t0039a0001c0003t0073others(2): Show | a0001c0001t0030g0087a0001c0002t0039g0099a0001c0003t0073g0001others(2): Show | 5 | 122 | 0.0410 | -6 | c.238 others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | chr13 | TogoVar | ||||||
| ATP8A2_chr13_25366974_26030851 | 25794820 | TACACAC | T | intron_variant | MODIFIER | HG00738.hp2 HG01261.hp1 HG02723.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0018a0001c0001t0019a0001c0001t0042others(3): Show | a0001c0001t0018g0041a0001c0001t0019g0004a0001c0001t0042g0059others(3): Show | 6 | 122 | 0.0492 | -6 | c.267 others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25829668 | GTATATA | G | intron_variant | MODIFIER | HG00741.hp2 HG02055.hp1 NA21309.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0004a0001c0002t0005a0001c0003t0062 | a0001c0002t0004g0056a0001c0002t0005g0034a0001c0003t0062g0024 | 3 | 122 | 0.0246 | -6 | c.275 others(25): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25837423 | CCACACA | C | intron_variant | MODIFIER | HG00738.hp1 HG00738.hp2 HG01069.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0010others(26): Show | a0001c0001t0003g0093a0001c0001t0004g0046a0001c0001t0010g0100others(27): Show | 30 | 122 | 0.2459 | -6 | c.287 others(23): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 29/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25853394 | AAAATAT | A | intron_variant | MODIFIER | HG01070.hp2 HG01081.hp1 HG01109.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0024others(16): Show | a0001c0001t0003g0093a0001c0001t0004g0046a0001c0001t0024g0003others(16): Show | 19 | 122 | 0.1557 | -6 | c.295 others(25): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 30/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25853405 | ATATATG | A | intron_variant | MODIFIER | HG00642.hp2 HG01243.hp1 HG02698.hp1 others(1): Show |
a0001 | a0001c0002a0001c0004a0001c0016 | a0001c0002t0001a0001c0004t0003a0001c0004t0068others(1): Show | a0001c0002t0001g0083a0001c0004t0003g0007a0001c0004t0068g0071others(1): Show | 4 | 122 | 0.0328 | -6 | c.295 others(25): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 30/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25882894 | AGATGAT | A | intron_variant | MODIFIER | HG01074.hp2 HG01243.hp2 HG02257.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0010a0001c0001t0046a0001c0001t0050others(17): Show | a0001c0001t0010g0100a0001c0001t0046g0045a0001c0001t0050g0025others(17): Show | 20 | 122 | 0.1639 | -6 | c.318 others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25912155 | GACACAC | G | intron_variant | MODIFIER | HG01496.hp2 HG01981.hp1 HG02895.hp1 others(2): Show |
a0001 | a0001c0002a0001c0004a0001c0016 | a0001c0002t0001a0001c0002t0010a0001c0002t0058others(2): Show | a0001c0002t0001g0031a0001c0002t0010g0118a0001c0002t0058g0101others(2): Show | 5 | 122 | 0.0410 | -6 | c.318 others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25912191 | CACACAG | C | intron_variant | MODIFIER | HG02257.hp2 HG02559.hp2 HG02615.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0009a0001c0001t0016a0001c0001t0026others(10): Show | a0001c0001t0009g0065a0001c0001t0016g0104a0001c0001t0026g0090others(10): Show | 13 | 122 | 0.1066 | -6 | c.318 others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | chr13 | TogoVar | ||||||
| ATP8A2_chr13_25366974_26030851 | 25953541 | AAAAAAG | A | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp2 HG02257.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0026a0001c0001t0030a0001c0001t0053others(7): Show | a0001c0001t0026g0090a0001c0001t0030g0087a0001c0001t0053g0114others(7): Show | 10 | 122 | 0.0820 | -6 | c.318 others(25): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | chr13 | TogoVar | ||||||
| ATP8A2_chr13_25366974_26030851 | 26002848 | CTGTGTG | C | intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01070.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0011a0001c0001t0041a0001c0002t0004others(5): Show | a0001c0001t0011g0061a0001c0001t0011g0062a0001c0001t0011g0063others(7): Show | 10 | 122 | 0.0820 | -6 | c.337 others(25): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 35/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8B1_chr18_57641426_57808315 | 57658627 | TTGTGTG | T | intron_variant | MODIFIER | HG01358.hp1 HG02647.hp2 HG02683.hp1 others(6): Show |
a0001a0004 | a0001c0001a0004c0004a0004c0008 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0002g0295a0001c0001t0004g0120a0001c0001t0006g0057others(6): Show | 9 | 314 | 0.0287 | -6 | c.270 others(25): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 22/27 | chr18 | TogoVar | ||||||
| ATP8B1_chr18_57641426_57808315 | 57661620 | TGTGTGC | T | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00597.hp2 others(33): Show |
a0001a0011 | a0001c0001a0011c0015 | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(4): Show | a0001c0001t0002g0200a0001c0001t0002g0201a0001c0001t0002g0214others(33): Show | 36 | 314 | 0.1147 | -6 | c.241 others(23): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 21/27 | chr18 | TogoVar | ||||||
| ATP8B1_chr18_57641426_57808315 | 57672883 | AAAGTAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG01515.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0097a0001c0001t0002g0203a0001c0001t0003g0195others(12): Show | 15 | 314 | 0.0478 | -6 | c.182 others(25): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 16/27 | chr18 | TogoVar | ||||||
| ATP8B1_chr18_57641426_57808315 | 57672927 | TATATAA | T | intron_variant | MODIFIER | HG01123.hp2 HG01952.hp1 HG02886.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0013a0001c0001t0015others(1): Show | a0001c0001t0001g0061a0001c0001t0013g0231a0001c0001t0015g0187others(1): Show | 4 | 314 | 0.0127 | -6 | c.182 others(25): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 16/27 | chr18 | TogoVar | ||||||
| ATP8B1_chr18_57641426_57808315 | 57717547 | CAAAAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00741.hp2 HG01071.hp1 others(23): Show |
a0001a0008 | a0001c0001a0001c0005a0001c0018others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0024a0001c0001t0001g0066a0001c0001t0001g0067others(23): Show | 26 | 314 | 0.0828 | -6 | c.182 others(25): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | ||||||
| ATP8B1_chr18_57641426_57808315 | 57732247 | ATATATG | A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00558.hp2 others(79): Show |
a0001a0002a0008 | a0001c0001a0001c0005a0001c0016others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0010a0001c0001t0001g0018a0001c0001t0001g0024others(79): Show | 82 | 314 | 0.2612 | -6 | c.-25 others(21): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
| ATP8B1_chr18_57641426_57808315 | 57756192 | CATATAT | C | intron_variant | MODIFIER | HG00642.hp1 HG02895.hp2 HG02897.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0004a0001c0001t0010a0004c0004t0046 | a0001c0001t0004g0113a0001c0001t0010g0152a0001c0001t0010g0164others(1): Show | 4 | 314 | 0.0127 | -6 | c.-25 others(25): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
| ATP8B1_chr18_57641426_57808315 | 57756210 | TACACAC | T | intron_variant | MODIFIER | HG01433.hp1 HG03130.hp1 HG03195.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0041 | a0001c0001t0003g0285a0001c0001t0003g0303a0001c0001t0004g0094others(1): Show | 4 | 314 | 0.0127 | -6 | c.-25 others(25): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
| ATP8B1_chr18_57641426_57808315 | 57803349 | CGCTGGG | C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(105): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0016a0001c0018others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(13): Show | a0001c0001t0002g0200a0001c0001t0002g0201a0001c0001t0002g0202others(105): Show | 108 | 314 | 0.3440 | -6 | c.-38 others(15): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 35 | chr18 | TogoVar | ||||||
| ATP8B2_chr1_154320525_154356304 | 154355219 | AACACAC | A | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00735.hp2 HG01099.hp2 others(30): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0004a0001c0003t0002others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0016others(20): Show | 33 | 382 | 0.0864 | -6 | c.*61 others(17): Show |
ATP8B2 | ENSG00000143515.20 | transcript | ENST00000368489.6 | protein_coding | 3916 | chr1 | TogoVar | ||||||
| ATP8B3_chr19_1777075_1817276 | 1778866 | TCACACA | T | downstream_gene_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG00733.hp1 others(80): Show |
a0000a0001a0002others(7): Show | a0000c0029a0000c0040a0000c0043others(23): Show | a0000c0029t0007a0000c0040t0008a0000c0043t0008others(24): Show | a0000c0029t0007g0052a0000c0040t0008g0265a0000c0043t0008g0247others(80): Show | 83 | 390 | 0.2128 | -6 | c.*41 others(17): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 3208 | chr19 | TogoVar | ||||||
| ATP8B3_chr19_1777075_1817276 | 1795784 | TACACAC | T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00642.hp1 others(30): Show |
a0000a0001a0002others(5): Show | a0000c0020a0000c0023a0000c0032others(17): Show | a0000c0020t0007a0000c0023t0007a0000c0032t0007others(18): Show | a0000c0020t0007g0075a0000c0023t0007g0106a0000c0032t0007g0130others(30): Show | 33 | 390 | 0.0846 | -6 | c.205 others(21): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 18/28 | chr19 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 49857120 | TTCTCTC | T | downstream_gene_variant | MODIFIER | HG01081.hp1 HG03654.hp1 HG03942.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0007a0001c0001t0013a0003c0003t0013 | a0001c0001t0007g0007a0001c0001t0007g0070a0001c0001t0013g0102others(1): Show | 4 | 254 | 0.0158 | -6 | c.*30 others(17): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 1117 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 49857144 | CTATATA | C | downstream_gene_variant | MODIFIER | HG02451.hp2 HG02572.hp2 HG02818.hp1 others(3): Show |
a0001a0002a0012 | a0001c0001a0002c0002a0012c0013 | a0001c0001t0003a0001c0001t0010a0002c0002t0010others(1): Show | a0001c0001t0003g0235a0001c0001t0003g0236a0001c0001t0003g0237others(3): Show | 6 | 254 | 0.0236 | -6 | c.*30 others(17): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 1093 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 49950613 | AACAAAC | A | intron_variant | MODIFIER | HG02622.hp1 HG02630.hp1 HG02818.hp2 others(7): Show |
a0001a0003a0006others(1): Show | a0001c0001a0003c0003a0006c0006others(1): Show | a0001c0001t0001a0001c0001t0019a0003c0003t0001others(5): Show | a0001c0001t0001g0179a0001c0001t0019g0035a0003c0003t0001g0176others(7): Show | 10 | 254 | 0.0394 | -6 | c.128 others(27): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 14/27 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 49951455 | TTCTTAG | T | intron_variant | MODIFIER | HG02572.hp1 HG02615.hp2 HG02809.hp1 others(1): Show |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0015a0007c0007t0001 | a0001c0001t0015g0012a0007c0007t0001g0240a0007c0007t0001g0242others(1): Show | 4 | 254 | 0.0158 | -6 | c.128 others(27): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 14/27 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 49978739 | TACACAC | T | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp2 others(39): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0026others(12): Show | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0144others(39): Show | 42 | 254 | 0.1654 | -6 | c.103 others(23): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 12/27 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 50072921 | CCTCTCT | C | intron_variant | MODIFIER | HG00423.hp1 HG02818.hp1 HG03491.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0111a0001c0001t0003g0122a0001c0001t0003g0123others(1): Show | 4 | 254 | 0.0158 | -6 | c.87+ others(21): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 50073019 | TACACAC | T | intron_variant | MODIFIER | HG00639.hp2 HG01081.hp2 HG01167.hp2 others(8): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0001g0110a0001c0001t0003g0122a0001c0001t0003g0123others(8): Show | 11 | 254 | 0.0433 | -6 | c.87+ others(21): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 50085931 | ATATATT | A | intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 NA20300.hp1 |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0012 | a0001c0001t0025a0002c0002t0001a0010c0012t0001 | a0001c0001t0025g0239a0002c0002t0001g0164a0010c0012t0001g0096 | 3 | 254 | 0.0118 | -6 | c.29- others(23): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 50085957 | ATATATT | A | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG02109.hp1 others(6): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0010others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0013others(3): Show | a0001c0001t0001g0148a0001c0001t0001g0149a0001c0001t0001g0238others(6): Show | 9 | 254 | 0.0354 | -6 | c.29- others(23): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar |