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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP7B_chr13_51927669_52016450 | 51972411 | C | CTCAAT | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(149): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0025a0002c0002others(23): Show | a0001c0001t0001a0001c0025t0003a0002c0002t0002others(42): Show | a0001c0001t0001g0241 a0001c0001t0001g0277 a0001c0025t0003g0147 others(139): Show |
152 | 300 | 0.5067 | 5 | c.128 others(24): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 2/20 | chr13 | TogoVar | |||||||
ATP7B_chr13_51927669_52016450 | 51992979 | C | CAAAAA | intron_variant | MODIFIER | HG01099.hp2 HG01123.hp1 HG01168.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0003a0002c0002t0002a0003c0003t0016 | a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0144 others(4): Show |
7 | 142 | 0.0493 | 5 | c.52- others(22): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 1/20 | chr13 | TogoVar | |||||||
ATP7B_chr13_51927669_52016450 | 52011455 | T | TCGGCG | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00423.hp2 others(98): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0002c0011others(13): Show | a0001c0001t0003a0002c0002t0002a0002c0002t0007others(20): Show | a0001c0001t0003g0056 a0001c0001t0003g0111 a0002c0002t0002g0002 others(91): Show |
101 | 300 | 0.3367 | 5 | c.-12 others(14): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 6 | chr13 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42435461 | A | AAAAAC | intron_variant | MODIFIER | HG00280.hp2 HG01255.hp1 HG02055.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0025 | a0001c0001t0006g0252 a0001c0001t0007g0044 a0001c0001t0007g0083 others(7): Show |
10 | 145 | 0.0690 | 5 | c.312 others(24): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 33/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42446080 | C | CAAAAA | intron_variant | MODIFIER | HG00738.hp1 HG01257.hp1 HG01358.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0012others(3): Show | a0001c0001t0001g0127 a0001c0001t0001g0170 a0001c0001t0010g0289 others(8): Show |
11 | 25 | 0.4400 | 5 | c.295 others(22): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 31/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42500365 | A | AAAAAC | intron_variant | MODIFIER | HG00558.hp2 HG01099.hp2 HG01175.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0010others(8): Show | a0001c0001t0002g0130 a0001c0001t0006g0235 a0001c0001t0010g0289 others(11): Show |
14 | 158 | 0.0886 | 5 | c.215 others(24): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 24/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42507729 | C | CAAAAA | intron_variant | MODIFIER | HG01255.hp1 HG01928.hp2 HG02273.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0007a0001c0002t0004a0001c0002t0013others(4): Show | a0001c0001t0007g0044 a0001c0001t0007g0118 a0001c0001t0007g0119 others(6): Show |
9 | 59 | 0.1525 | 5 | c.194 others(22): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 22/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42507780 | T | TAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG02258.hp1 HG02258.hp2 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0005a0001c0004t0004others(1): Show | a0001c0001t0001g0075 a0001c0001t0005g0309 a0001c0004t0004g0110 others(6): Show |
9 | 142 | 0.0634 | 5 | c.194 others(22): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 22/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42576475 | C | CAAAAA | intron_variant | MODIFIER | HG01169.hp1 HG01361.hp1 HG01943.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0012 | a0001c0001t0002g0143 a0001c0001t0002g0161 a0001c0001t0003g0267 others(3): Show |
6 | 67 | 0.0896 | 5 | c.112 others(22): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 12/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42653294 | C | CCATAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(197): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0020 a0001c0001t0001g0050 a0001c0001t0001g0053 others(197): Show |
200 | 308 | 0.6494 | 5 | c.49+ others(20): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42657253 | T | TCGCCC | upstream_gene_variant | MODIFIER | NA18952.hp2 NA18969.hp1 NA18978.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0003g0242 a0001c0001t0003g0261 a0001c0001t0003g0262 others(4): Show |
7 | 308 | 0.0227 | 5 | c.-38 others(14): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 149 | chr4 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25389983 | C | CTTTTG | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp2 HG02622.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0005a0001c0001t0041a0001c0001t0046others(5): Show | a0001c0001t0005g0102 a0001c0001t0041g0044 a0001c0001t0046g0045 others(5): Show |
8 | 92 | 0.0870 | 5 | c.76+ others(22): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25393133 | C | CTTTTT | intron_variant | MODIFIER | HG01074.hp1 HG02273.hp2 HG02615.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0015a0001c0001t0041a0001c0002t0003others(4): Show | a0001c0001t0015g0016 a0001c0001t0041g0044 a0001c0002t0003g0087 others(4): Show |
7 | 79 | 0.0886 | 5 | c.76+ others(22): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25399397 | C | CTTTTT | intron_variant | MODIFIER | HG01069.hp2 HG02015.hp2 HG02698.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0015a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0015g0082 a0001c0002t0001g0083 a0001c0002t0002g0037 others(5): Show |
8 | 17 | 0.4706 | 5 | c.76+ others(22): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25465711 | C | CTTTCT | intron_variant | MODIFIER | HG01109.hp1 HG02622.hp1 HG02965.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0040a0001c0001t0041others(5): Show | a0001c0001t0008g0073 a0001c0001t0040g0038 a0001c0001t0041g0044 others(5): Show |
8 | 103 | 0.0777 | 5 | c.77- others(20): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25465715 | C | CTTTCT | intron_variant | MODIFIER | HG02280.hp1 HG02976.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0066a0001c0009t0037 | a0001c0001t0066g0092 a0001c0009t0037g0008 |
2 | 120 | 0.0167 | 5 | c.77- others(20): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25643990 | C | CTATTT | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00738.hp1 others(112): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(99): Show | a0001c0001t0001g0036 a0001c0001t0002g0079 a0001c0001t0003g0093 others(112): Show |
115 | 120 | 0.9583 | 5 | c.221 others(26): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25646671 | A | AAAAAC | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG00741.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0024others(16): Show | a0001c0001t0001g0036 a0001c0001t0002g0079 a0001c0001t0024g0004 others(20): Show |
23 | 28 | 0.8214 | 5 | c.221 others(26): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | chr13 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25717418 | T | TAAAAA | intron_variant | MODIFIER | HG02258.hp1 HG02895.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0066a0001c0003t0069a0001c0006t0020others(1): Show | a0001c0001t0066g0092 a0001c0003t0069g0012 a0001c0006t0020g0085 others(1): Show |
4 | 62 | 0.0645 | 5 | c.238 others(26): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25730070 | G | GCCCAC | intron_variant | MODIFIER | HG01081.hp1 HG02015.hp2 HG02258.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0008a0001c0001t0009a0001c0001t0010others(19): Show | a0001c0001t0008g0073 a0001c0001t0009g0065 a0001c0001t0010g0100 others(20): Show |
23 | 120 | 0.1917 | 5 | c.238 others(26): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25762268 | C | CAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG02559.hp1 HG02895.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0010a0001c0003t0073a0001c0004t0068others(1): Show | a0001c0002t0010g0118 a0001c0003t0073g0001 a0001c0004t0068g0071 others(1): Show |
4 | 10 | 0.4000 | 5 | c.238 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25793035 | G | GGAGAA | intron_variant | MODIFIER | HG02015.hp1 HG02257.hp1 HG02809.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0039a0001c0003t0010a0001c0003t0014others(1): Show | a0001c0002t0039g0099 a0001c0003t0010g0026 a0001c0003t0014g0111 others(1): Show |
4 | 120 | 0.0333 | 5 | c.267 others(26): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25813382 | T | TATATG | intron_variant | MODIFIER | HG01074.hp1 HG02257.hp1 HG02280.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0005a0001c0001t0015a0001c0001t0016others(12): Show | a0001c0001t0005g0102 a0001c0001t0015g0016 a0001c0001t0016g0104 others(14): Show |
17 | 53 | 0.3208 | 5 | c.268 others(26): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25857546 | G | GTTTCT | intron_variant | MODIFIER | HG00642.hp2 HG01243.hp1 HG03540.hp2 |
a0001 | a0001c0004a0001c0016 | a0001c0004t0003a0001c0004t0068a0001c0016t0045 | a0001c0004t0003g0007 a0001c0004t0068g0071 a0001c0016t0045g0105 |
3 | 120 | 0.0250 | 5 | c.295 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 30/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25859202 | A | AAAAAC | intron_variant | MODIFIER | HG01496.hp1 HG02895.hp2 HG03486.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0005others(2): Show | a0001c0002t0063a0001c0003t0052a0001c0005t0044others(2): Show | a0001c0002t0063g0050 a0001c0003t0052g0113 a0001c0005t0044g0018 others(2): Show |
5 | 120 | 0.0417 | 5 | c.295 others(22): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 30/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25891317 | C | CTTTTG | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01261.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0018a0001c0001t0042a0001c0002t0001others(3): Show | a0001c0001t0018g0041 a0001c0001t0042g0059 a0001c0002t0001g0039 others(3): Show |
6 | 120 | 0.0500 | 5 | c.318 others(26): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57661714 | T | TATATA | intron_variant | MODIFIER | HG00733.hp1 HG01361.hp2 HG02055.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0016 a0001c0001t0001g0077 a0001c0001t0003g0269 others(4): Show |
7 | 177 | 0.0395 | 5 | c.241 others(22): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 21/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57667208 | T | TTTTTA | intron_variant | MODIFIER | HG00408.hp2 HG00733.hp2 HG00735.hp1 others(23): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0003 a0001c0001t0001g0086 a0001c0001t0001g0098 others(23): Show |
26 | 312 | 0.0833 | 5 | c.221 others(20): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 19/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57668554 | T | TAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp2 others(69): Show |
a0001a0003a0004 | a0001c0001a0001c0007a0001c0016others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0003 a0001c0001t0001g0067 a0001c0001t0001g0086 others(69): Show |
72 | 73 | 0.9863 | 5 | c.209 others(20): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 18/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57680585 | A | AAAAAC | intron_variant | MODIFIER | HG00558.hp2 HG00733.hp1 HG00738.hp1 others(85): Show |
a0001a0007a0008 | a0001c0001a0001c0016a0001c0018others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 others(85): Show |
88 | 268 | 0.3284 | 5 | c.163 others(24): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 15/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57713475 | T | TTTTTA | intron_variant | MODIFIER | HG00544.hp1 HG02080.hp1 HG02723.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0011a0001c0001t0048others(3): Show | a0001c0001t0004g0128 a0001c0001t0011g0184 a0001c0001t0048g0312 others(5): Show |
8 | 291 | 0.0275 | 5 | c.182 others(22): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57729549 | C | CTTTTT | intron_variant | MODIFIER | HG00741.hp1 HG01168.hp1 HG01256.hp2 others(17): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0061 others(17): Show |
20 | 21 | 0.9524 | 5 | c.181 others(22): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57761112 | T | TATAAA | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00642.hp2 others(41): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 others(41): Show |
44 | 120 | 0.3667 | 5 | c.-25 others(24): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57773200 | T | TAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG02451.hp1 HG02738.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010 | a0001c0001t0001g0083 a0001c0001t0001g0096 a0001c0001t0003g0195 others(2): Show |
5 | 140 | 0.0357 | 5 | c.-26 others(24): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57774603 | T | TAAATA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(170): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0006a0001c0013others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 others(170): Show |
173 | 312 | 0.5545 | 5 | c.-26 others(24): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57782803 | C | CTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG01081.hp2 HG01099.hp1 others(27): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0010 a0001c0001t0001g0058 a0001c0001t0001g0059 others(27): Show |
30 | 32 | 0.9375 | 5 | c.-26 others(24): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B3_chr19_1777075_1817276 | 1780973 | T | TAAAAA | downstream_gene_variant | MODIFIER | HG01099.hp1 HG02523.hp2 HG02735.hp1 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0011others(6): Show | a0001c0001t0001a0001c0008t0002a0001c0011t0001others(6): Show | a0001c0001t0001g0144 a0001c0008t0002g0232 a0001c0011t0001g0199 others(8): Show |
11 | 95 | 0.1158 | 5 | c.*20 others(16): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 1101 | chr19 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 49948281 | C | CAAAAA | intron_variant | MODIFIER | HG01884.hp2 HG02622.hp1 HG02630.hp1 others(10): Show |
a0001a0003a0006others(1): Show | a0001c0001a0003c0003a0006c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(6): Show | a0001c0001t0001g0177 a0001c0001t0002g0015 a0001c0001t0002g0017 others(10): Show |
13 | 187 | 0.0695 | 5 | c.128 others(26): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 14/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50029238 | T | TAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00609.hp2 others(50): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0021others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(19): Show | a0001c0001t0001g0177 a0001c0001t0001g0231 a0001c0001t0002g0015 others(50): Show |
53 | 95 | 0.5579 | 5 | c.362 others(22): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 6/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50086180 | T | TATATG | intron_variant | MODIFIER | HG00558.hp1 HG01074.hp2 HG01243.hp1 others(8): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0016a0002c0002t0001others(5): Show | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0016g0067 others(8): Show |
11 | 216 | 0.0509 | 5 | c.29- others(22): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50086216 | T | TATATG | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00609.hp2 others(34): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0109 a0001c0001t0002g0047 a0001c0001t0002g0075 others(34): Show |
37 | 244 | 0.1516 | 5 | c.29- others(22): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50086252 | T | TATATG | intron_variant | MODIFIER | HG00558.hp1 HG01074.hp2 HG02080.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0016a0002c0002t0001others(3): Show | a0001c0001t0002g0085 a0001c0001t0016g0067 a0002c0002t0001g0229 others(4): Show |
7 | 235 | 0.0298 | 5 | c.29- others(22): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50086288 | T | TATATG | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00741.hp1 others(22): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0002g0030 others(22): Show |
25 | 227 | 0.1101 | 5 | c.29- others(22): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50114103 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(53): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 others(53): Show |
56 | 85 | 0.6588 | 5 | c.-43 others(22): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 1/27 | chr15 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51623801 | A | AAAAAG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(14): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0004a0001c0002t0029a0001c0002t0065others(2): Show | a0001c0002t0004g0067 a0001c0002t0004g0068 a0001c0002t0004g0141 others(14): Show |
17 | 164 | 0.1037 | 5 | c.201 others(24): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 18/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51633764 | G | GAGAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(75): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(24): Show | a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0171 others(75): Show |
78 | 310 | 0.2516 | 5 | c.166 others(24): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51668086 | T | TGGGGG | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00438.hp2 others(20): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0034 a0001c0001t0001g0194 a0001c0001t0001g0269 others(20): Show |
23 | 87 | 0.2644 | 5 | c.129 others(24): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 13/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51681427 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(29): Show |
a0001 | a0001c0002a0001c0014 | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(9): Show | a0001c0002t0002g0164 a0001c0002t0003g0066 a0001c0002t0004g0048 others(29): Show |
32 | 211 | 0.1517 | 5 | c.800 others(22): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 9/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51685581 | A | AAAAAG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(149): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(60): Show | a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 others(149): Show |
152 | 305 | 0.4984 | 5 | c.799 others(22): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 9/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51687774 | A | ATGAAT | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp1 HG02486.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0007a0001c0002t0011others(2): Show | a0001c0002t0002g0005 a0001c0002t0007g0006 a0001c0002t0007g0016 others(3): Show |
6 | 244 | 0.0246 | 5 | c.799 others(22): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 9/27 | chr20 | TogoVar |