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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP6V1H_chr8_53710543_53848245 | 53726064 | AAACATT | A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(85): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0001c0001t0005a0003c0004t0002 | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0007 others(83): Show |
88 | 284 | 0.3099 | -6 | c.139 others(27): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53755685 | CATATAT | C | intron_variant | MODIFIER | HG00280.hp1 HG00673.hp2 HG01109.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0021 a0001c0001t0001g0037 a0001c0001t0001g0185 others(12): Show |
15 | 196 | 0.0765 | -6 | c.127 others(23): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53765454 | AACACAC | A | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG01074.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0044 others(25): Show |
28 | 151 | 0.1854 | -6 | c.117 others(25): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53819547 | CATATAT | C | intron_variant | MODIFIER | HG02109.hp2 HG02886.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0039 a0001c0001t0001g0043 others(1): Show |
4 | 117 | 0.0342 | -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 |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0007 | a0001c0001t0001a0001c0001t0005a0002c0002t0012others(1): Show | a0001c0001t0001g0139 a0001c0001t0005g0135 a0001c0001t0005g0136 others(7): Show |
10 | 226 | 0.0442 | -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 | 78002799 | TACACAC | T | intron_variant | MODIFIER | HG00642.hp1 HG01884.hp2 HG02738.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0009 | a0001c0001t0001g0150 a0001c0001t0001g0198 a0003c0004t0009g0130 |
3 | 127 | 0.0236 | -6 | c.154 others(23): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 5/22 | 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 | a0001c0001t0001g0112 a0001c0001t0008g0065 a0001c0001t0008g0117 others(3): Show |
6 | 308 | 0.0195 | -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 | a0001c0001t0001g0020 a0001c0001t0002g0014 a0001c0001t0002g0015 others(89): Show |
92 | 101 | 0.9109 | -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 | a0001c0001t0004g0025 a0001c0002t0004g0013 a0001c0002t0004g0023 others(12): Show |
15 | 41 | 0.3659 | -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(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0004a0001c0002t0005others(1): Show | a0001c0001t0004g0043 a0001c0002t0004g0024 a0001c0002t0005g0189 others(1): Show |
4 | 290 | 0.0138 | -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 | a0001c0001t0018g0041 a0002c0005t0004g0037 a0002c0005t0004g0039 others(2): Show |
5 | 229 | 0.0218 | -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(46): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0011others(38): Show | a0001c0001t0002g0079 a0001c0001t0004g0040 a0001c0001t0004g0046 others(46): Show |
49 | 110 | 0.4455 | -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 | a0001c0001t0005g0102 a0001c0001t0016g0104 a0001c0001t0025g0009 others(20): Show |
23 | 115 | 0.2000 | -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 | a0001c0001t0004g0046 a0001c0001t0008g0073 a0001c0001t0042g0059 others(11): Show |
14 | 120 | 0.1167 | -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 | a0001c0001t0004g0040 a0001c0001t0004g0046 a0001c0001t0008g0073 others(20): Show |
23 | 120 | 0.1917 | -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 | a0001c0004t0002g0080 a0001c0006t0006g0098 a0001c0006t0020g0085 others(2): Show |
5 | 42 | 0.1190 | -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(4): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0040a0001c0003t0018a0001c0005t0012others(4): Show | a0001c0001t0040g0038 a0001c0003t0018g0057 a0001c0005t0012g0020 others(4): Show |
7 | 118 | 0.0593 | -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 | a0001c0001t0019g0005 a0001c0002t0001g0032 a0001c0002t0002g0037 others(9): Show |
12 | 61 | 0.1967 | -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 | a0001c0001t0001g0036 a0001c0001t0017g0051 a0001c0002t0023g0013 others(1): Show |
4 | 25 | 0.1600 | -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 | a0001c0001t0030g0091 a0001c0002t0039g0099 a0001c0003t0073g0001 others(2): Show |
5 | 120 | 0.0417 | -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 | a0001c0001t0018g0041 a0001c0001t0019g0005 a0001c0001t0042g0059 others(3): Show |
6 | 23 | 0.2609 | -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 | a0001c0002t0004g0056 a0001c0002t0005g0034 a0001c0003t0062g0024 |
3 | 13 | 0.2308 | -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 | a0001c0001t0003g0093 a0001c0001t0004g0046 a0001c0001t0010g0100 others(27): Show |
30 | 41 | 0.7317 | -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 | a0001c0001t0003g0093 a0001c0001t0004g0046 a0001c0001t0024g0004 others(16): Show |
19 | 68 | 0.2794 | -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 | a0001c0002t0001g0083 a0001c0004t0003g0007 a0001c0004t0068g0071 others(1): Show |
4 | 120 | 0.0333 | -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 | a0001c0001t0010g0100 a0001c0001t0046g0045 a0001c0001t0050g0025 others(17): Show |
20 | 56 | 0.3571 | -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 | a0001c0002t0001g0031 a0001c0002t0010g0118 a0001c0002t0058g0101 others(2): Show |
5 | 54 | 0.0926 | -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 | a0001c0001t0009g0065 a0001c0001t0016g0104 a0001c0001t0026g0089 others(10): Show |
13 | 120 | 0.1083 | -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 | a0001c0001t0026g0089 a0001c0001t0030g0091 a0001c0001t0053g0114 others(7): Show |
10 | 120 | 0.0833 | -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 | a0001c0001t0011g0061 a0001c0001t0011g0062 a0001c0001t0011g0063 others(7): Show |
10 | 30 | 0.3333 | -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 | a0001c0001a0004c0004a0004c0009 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0002g0295 a0001c0001t0004g0120 a0001c0001t0006g0057 others(6): Show |
9 | 88 | 0.1023 | -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 |
a0001a0006 | a0001c0001a0006c0017 | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(4): Show | a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0214 others(33): Show |
36 | 312 | 0.1154 | -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 | a0001c0001t0001g0097 a0001c0001t0002g0203 a0001c0001t0003g0195 others(12): Show |
15 | 226 | 0.0664 | -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 | a0001c0001t0001g0061 a0001c0001t0013g0231 a0001c0001t0015g0187 others(1): Show |
4 | 307 | 0.0130 | -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 |
a0001a0010 | a0001c0001a0001c0006a0001c0018others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0024 a0001c0001t0001g0066 a0001c0001t0001g0067 others(23): Show |
26 | 32 | 0.8125 | -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 |
a0001a0002a0010 | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0024 others(79): Show |
82 | 312 | 0.2628 | -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 | a0001c0001t0004g0113 a0001c0001t0010g0152 a0001c0001t0010g0164 others(1): Show |
4 | 145 | 0.0276 | -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 | a0001c0001t0003g0285 a0001c0001t0003g0303 a0001c0001t0004g0094 others(1): Show |
4 | 151 | 0.0265 | -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 | a0001c0001a0001c0005a0001c0018others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(13): Show | a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 others(105): Show |
108 | 312 | 0.3462 | -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 | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 others(19): Show |
33 | 129 | 0.2558 | -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 |
a0001a0002a0003others(10): Show | a0001c0001a0001c0006a0001c0008others(23): Show | a0001c0001t0001a0001c0006t0002a0001c0008t0003others(24): Show | a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0045 others(79): Show |
83 | 215 | 0.3860 | -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(29): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0008others(17): Show | a0001c0001t0001a0001c0001t0006a0001c0004t0003others(18): Show | a0001c0001t0001g0033 a0001c0001t0001g0070 a0001c0001t0001g0079 others(29): Show |
32 | 70 | 0.4571 | -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 | a0001c0001t0007g0022 a0001c0001t0007g0079 a0001c0001t0013g0101 others(1): Show |
4 | 249 | 0.0161 | -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 |
a0001a0002a0014 | a0001c0001a0002c0002a0014c0013 | a0001c0001t0003a0001c0001t0010a0002c0002t0010others(1): Show | a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 others(3): Show |
6 | 230 | 0.0261 | -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 | a0001c0001t0001g0177 a0001c0001t0019g0026 a0003c0003t0001g0175 others(7): Show |
10 | 252 | 0.0397 | -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 |
a0001a0008 | a0001c0001a0008c0007 | a0001c0001t0015a0008c0007t0001 | a0001c0001t0015g0006 a0008c0007t0001g0241 a0008c0007t0001g0243 others(1): Show |
4 | 252 | 0.0159 | -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 | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0143 others(39): Show |
42 | 79 | 0.5316 | -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 | a0001c0001t0001g0110 a0001c0001t0003g0118 a0001c0001t0003g0119 others(1): Show |
4 | 190 | 0.0211 | -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 | a0001c0001t0001g0109 a0001c0001t0003g0118 a0001c0001t0003g0119 others(8): Show |
11 | 145 | 0.0759 | -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 |
a0001a0002a0011 | a0001c0001a0002c0002a0011c0012 | a0001c0001t0025a0002c0002t0001a0011c0012t0001 | a0001c0001t0025g0240 a0002c0002t0001g0163 a0011c0012t0001g0095 |
3 | 252 | 0.0119 | -6 | c.29- others(23): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar |