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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP8A2_chr13_25366974_26030851 | 25516783 | C | CTTT | intron_variant | MODIFIER | HG00642.hp2 HG01069.hp1 HG01071.hp1 others(9): Show |
a0001 | a0001c0004a0001c0006a0001c0017 | a0001c0004t0002a0001c0004t0003a0001c0004t0004others(8): Show | a0001c0004t0002g0049 a0001c0004t0002g0080 a0001c0004t0003g0007 others(9): Show |
12 | 118 | 0.1017 | 3 | c.222 others(22): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25558348 | G | GAAT | intron_variant | MODIFIER | HG01261.hp2 HG02257.hp2 HG02896.hp2 others(4): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0009a0001c0001t0017a0001c0001t0026others(4): Show | a0001c0001t0009g0065 a0001c0001t0017g0051 a0001c0001t0026g0089 others(4): Show |
7 | 120 | 0.0583 | 3 | c.126 others(20): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 13/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25610883 | C | CTTT | intron_variant | MODIFIER | HG02647.hp1 HG02965.hp1 HG02976.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0030a0001c0001t0041a0001c0001t0046others(2): Show | a0001c0001t0030g0091 a0001c0001t0041g0044 a0001c0001t0046g0045 others(2): Show |
5 | 26 | 0.1923 | 3 | c.221 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25641853 | A | ATAC | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00738.hp1 others(106): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(93): Show | a0001c0001t0001g0036 a0001c0001t0002g0079 a0001c0001t0003g0093 others(106): Show |
109 | 120 | 0.9083 | 3 | c.221 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25641854 | T | TACC | intron_variant | MODIFIER | HG02559.hp1 HG02622.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0010a0001c0002t0005a0001c0002t0032others(3): Show | a0001c0001t0010g0100 a0001c0002t0005g0034 a0001c0002t0032g0023 others(3): Show |
6 | 120 | 0.0500 | 3 | c.221 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25646671 | A | AAAC | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG01070.hp1 others(42): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0004a0001c0001t0009a0001c0001t0010others(38): Show | a0001c0001t0004g0040 a0001c0001t0004g0046 a0001c0001t0009g0065 others(42): Show |
45 | 50 | 0.9000 | 3 | c.221 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | chr13 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25697268 | T | TTTG | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG00741.hp2 others(37): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(33): Show | a0001c0001t0001g0036 a0001c0001t0002g0079 a0001c0001t0005g0102 others(37): Show |
40 | 120 | 0.3333 | 3 | c.221 others(22): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25731147 | A | AAAG | intron_variant | MODIFIER | HG02976.hp2 HG03130.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0018 | a0001c0001t0025a0001c0001t0030a0001c0018t0024 | a0001c0001t0025g0009 a0001c0001t0030g0091 a0001c0018t0024g0066 |
3 | 29 | 0.1034 | 3 | 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 | 25762268 | C | CAAA | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp2 HG01070.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0004a0001c0001t0010a0001c0001t0030others(12): Show | a0001c0001t0004g0046 a0001c0001t0010g0100 a0001c0001t0030g0091 others(14): Show |
17 | 23 | 0.7391 | 3 | c.238 others(22): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25786754 | G | GATT | intron_variant | MODIFIER | HG02723.hp1 HG02809.hp2 NA18977.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0019a0001c0001t0074a0001c0002t0003others(2): Show | a0001c0001t0019g0005 a0001c0001t0074g0116 a0001c0002t0003g0120 others(2): Show |
5 | 45 | 0.1111 | 3 | c.267 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | chr13 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25814620 | T | TAAA | intron_variant | MODIFIER | HG01496.hp1 HG02258.hp1 HG02615.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0010a0001c0001t0066a0001c0002t0010others(8): Show | a0001c0001t0010g0100 a0001c0001t0066g0092 a0001c0002t0010g0118 others(8): Show |
11 | 20 | 0.5500 | 3 | c.268 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25840809 | G | GTGA | intron_variant | MODIFIER | HG02055.hp1 HG02895.hp2 NA18986.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0006 | a0001c0002t0063a0001c0003t0052a0001c0003t0062others(1): Show | a0001c0002t0063g0050 a0001c0003t0052g0113 a0001c0003t0062g0024 others(1): Show |
4 | 120 | 0.0333 | 3 | 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 | 25851582 | C | CAAA | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01261.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0018a0001c0001t0042a0001c0002t0001others(1): Show | a0001c0001t0018g0041 a0001c0001t0042g0059 a0001c0002t0001g0039 others(1): Show |
4 | 112 | 0.0357 | 3 | 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 | 25882894 | A | AGAT | intron_variant | MODIFIER | HG00738.hp1 HG01074.hp1 HG01109.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0009a0001c0001t0015a0001c0001t0019others(7): Show | a0001c0001t0009g0065 a0001c0001t0015g0016 a0001c0001t0015g0082 others(9): Show |
12 | 48 | 0.2500 | 3 | c.318 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25885105 | C | CTTT | intron_variant | MODIFIER | HG00642.hp2 HG01243.hp1 HG02015.hp2 others(5): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0007others(4): Show | a0001c0002t0001g0032 a0001c0002t0001g0035 a0001c0002t0002g0037 others(5): Show |
8 | 97 | 0.0825 | 3 | c.318 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25916810 | G | GGTT | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01243.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0005a0001c0001t0008a0001c0001t0016others(15): Show | a0001c0001t0005g0102 a0001c0001t0008g0073 a0001c0001t0016g0104 others(15): Show |
18 | 120 | 0.1500 | 3 | c.318 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25966029 | G | GAAA | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG00741.hp1 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(34): Show | a0001c0001t0002g0079 a0001c0001t0003g0093 a0001c0001t0011g0061 others(39): Show |
42 | 70 | 0.6000 | 3 | c.327 others(22): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25977630 | C | CTGT | intron_variant | MODIFIER | HG01496.hp1 HG02622.hp2 HG03041.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0013a0001c0002t0006a0001c0002t0032others(2): Show | a0001c0001t0013g0006 a0001c0002t0006g0119 a0001c0002t0032g0023 others(2): Show |
5 | 119 | 0.0420 | 3 | c.337 others(22): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 35/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25990261 | T | TAAA | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01081.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0004t0004a0001c0004t0005 | a0001c0001t0004g0040 a0001c0001t0004g0046 a0001c0004t0004g0048 others(1): Show |
4 | 36 | 0.1111 | 3 | c.337 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 35/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 26000700 | C | CAAA | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01069.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0001g0036 a0001c0001t0003g0093 a0001c0001t0004g0040 others(35): Show |
38 | 39 | 0.9744 | 3 | c.337 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 35/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 26024902 | A | AAAT | 3_prime_UTR_variant | MODIFIER | HG02976.hp2 NA19240.hp2 |
a0001 | a0001c0001a0001c0018 | a0001c0001t0024a0001c0018t0024 | a0001c0001t0024g0004 a0001c0018t0024g0066 |
2 | 120 | 0.0167 | 3 | c.*49 others(14): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 37/37 | 4923 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 26025116 | C | CAAA | 3_prime_UTR_variant | MODIFIER | HG01261.hp2 HG01496.hp1 HG03139.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0011others(1): Show | a0001c0001t0008a0001c0001t0017a0001c0001t0048others(3): Show | a0001c0001t0008g0073 a0001c0001t0017g0051 a0001c0001t0048g0122 others(3): Show |
6 | 44 | 0.1364 | 3 | c.*51 others(14): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 37/37 | 5153 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 26026204 | G | GAGA | downstream_gene_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG00738.hp2 others(73): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(70): Show | a0001c0001t0002g0079 a0001c0001t0003g0093 a0001c0001t0008g0073 others(73): Show |
76 | 120 | 0.6333 | 3 | c.*62 others(14): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 354 | chr13 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57661714 | T | TATA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(118): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0006a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 others(118): Show |
121 | 291 | 0.4158 | 3 | c.241 others(20): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 21/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57672932 | A | ATCT | intron_variant | MODIFIER | HG01099.hp1 HG02809.hp2 HG02818.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0010 a0001c0001t0002g0202 a0001c0001t0004g0105 others(1): Show |
4 | 309 | 0.0129 | 3 | c.182 others(22): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 16/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57674241 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(125): Show |
a0001a0005a0009others(1): Show | a0001c0001a0001c0006a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0018 others(125): Show |
128 | 224 | 0.5714 | 3 | c.181 others(20): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 16/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57674254 | A | AAAG | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG02132.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0002g0295 a0001c0001t0004g0087 a0001c0001t0006g0023 others(7): Show |
10 | 305 | 0.0328 | 3 | c.181 others(20): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 16/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57674255 | A | AAAG | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp1 HG02080.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0203 a0001c0001t0002g0251 a0001c0001t0003g0233 others(3): Show |
6 | 312 | 0.0192 | 3 | c.181 others(20): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 16/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57674386 | C | CTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(166): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0006a0001c0013others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 others(166): Show |
169 | 205 | 0.8244 | 3 | c.181 others(20): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 16/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57695029 | C | CAAA | intron_variant | MODIFIER | HG02572.hp1 HG02723.hp2 HG02809.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0050 | a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0295 others(4): Show |
7 | 156 | 0.0449 | 3 | c.940 others(18): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 10/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57744307 | C | CAAA | intron_variant | MODIFIER | HG00544.hp1 HG01071.hp1 HG01081.hp1 others(37): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0016 a0001c0001t0001g0043 a0001c0001t0001g0049 others(37): Show |
40 | 118 | 0.3390 | 3 | c.-25 others(22): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57752207 | A | AAAT | intron_variant | MODIFIER | HG00408.hp2 HG00733.hp2 HG00735.hp1 others(28): Show |
a0001a0003a0005 | a0001c0001a0001c0007a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0053 a0001c0001t0001g0075 a0001c0001t0001g0112 others(28): Show |
31 | 253 | 0.1225 | 3 | c.-25 others(22): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57752226 | G | GATA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(61): Show |
a0001a0003a0006 | a0001c0001a0001c0005a0001c0016others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0035 a0001c0001t0001g0058 a0001c0001t0001g0059 others(61): Show |
64 | 183 | 0.3497 | 3 | c.-25 others(22): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57753476 | G | GTAT | intron_variant | MODIFIER | HG00741.hp1 HG01168.hp1 HG01175.hp1 others(18): Show |
a0001a0003a0008 | a0001c0001a0003c0003a0008c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 others(18): Show |
21 | 312 | 0.0673 | 3 | c.-25 others(22): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57768586 | C | CAAA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(110): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0016others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0035 a0001c0001t0001g0049 a0001c0001t0001g0053 others(110): Show |
113 | 224 | 0.5045 | 3 | c.-26 others(22): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57773200 | T | TAAA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00642.hp2 others(62): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0005a0001c0013others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0024 others(62): Show |
65 | 200 | 0.3250 | 3 | c.-26 others(22): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57791346 | C | CTTT | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01884.hp2 others(14): Show |
a0001a0011 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0115 others(14): Show |
17 | 299 | 0.0569 | 3 | c.-26 others(22): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57797703 | C | CTTT | intron_variant | MODIFIER | HG00280.hp1 HG00673.hp2 HG00733.hp2 others(18): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0017 | a0001c0001t0010a0001c0001t0011a0001c0001t0012others(6): Show | a0001c0001t0010g0143 a0001c0001t0010g0151 a0001c0001t0010g0152 others(18): Show |
21 | 202 | 0.1040 | 3 | c.-26 others(20): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B2_chr1_154320525_154356304 | 154322481 | G | GTCT | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01255.hp1 others(17): Show |
a0001 | a0001c0002a0001c0009a0001c0013 | a0001c0002t0003a0001c0002t0004a0001c0002t0024others(3): Show | a0001c0002t0003g0002 a0001c0002t0003g0031 a0001c0002t0003g0111 others(8): Show |
20 | 378 | 0.0529 | 3 | c.-32 others(14): Show |
ATP8B2 | ENSG00000143515.20 | transcript | ENST00000368489.6 | protein_coding | 3043 | chr1 | TogoVar | |||||||
ATP8B2_chr1_154320525_154356304 | 154348028 | A | ACAG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(99): Show |
a0001a0002a0003others(4): Show | a0001c0003a0001c0005a0001c0006others(7): Show | a0001c0003t0002a0001c0003t0009a0001c0003t0025others(14): Show | a0001c0003t0002g0004 a0001c0003t0002g0009 a0001c0003t0002g0026 others(58): Show |
102 | 130 | 0.7846 | 3 | c.316 others(20): Show |
ATP8B2 | ENSG00000143515.20 | transcript | ENST00000368489.6 | protein_coding | 26/27 | chr1 | TogoVar | |||||||
ATP8B3_chr19_1777075_1817276 | 1777995 | C | CAAA | downstream_gene_variant | MODIFIER | HG00642.hp2 HG00673.hp2 HG01243.hp2 others(35): Show |
a0001a0002a0003others(13): Show | a0001c0004a0001c0006a0001c0011others(24): Show | a0001c0004t0015a0001c0006t0002a0001c0011t0001others(24): Show | a0001c0004t0015g0101 a0001c0006t0002g0050 a0001c0006t0002g0066 others(35): Show |
38 | 243 | 0.1564 | 3 | c.*50 others(14): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 4079 | chr19 | TogoVar | |||||||
ATP8B3_chr19_1777075_1817276 | 1778015 | A | AAAC | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00544.hp1 others(28): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0006others(15): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0003others(16): Show | a0001c0001t0001g0003 a0001c0001t0001g0096 a0001c0001t0001g0139 others(27): Show |
31 | 377 | 0.0822 | 3 | c.*50 others(14): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 4059 | chr19 | TogoVar | |||||||
ATP8B3_chr19_1777075_1817276 | 1781597 | C | CAAA | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG01261.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0011others(5): Show | a0001c0001t0001a0001c0004t0001a0001c0011t0001others(6): Show | a0001c0001t0001g0035 a0001c0001t0001g0067 a0001c0004t0001g0086 others(9): Show |
12 | 116 | 0.1034 | 3 | c.*14 others(14): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 477 | chr19 | TogoVar | |||||||
ATP8B3_chr19_1777075_1817276 | 1787728 | T | TAAA | intron_variant | MODIFIER | HG00741.hp2 HG01952.hp2 HG03516.hp1 others(4): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0008a0002c0003others(3): Show | a0001c0004t0003a0001c0008t0003a0002c0003t0005others(3): Show | a0001c0004t0003g0097 a0001c0004t0003g0100 a0001c0008t0003g0168 others(4): Show |
7 | 26 | 0.2692 | 3 | c.307 others(20): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 24/28 | chr19 | TogoVar | |||||||
ATP8B3_chr19_1777075_1817276 | 1792579 | C | CAAA | intron_variant | MODIFIER | HG01192.hp2 HG01261.hp1 HG01433.hp1 others(18): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0011a0002c0003others(6): Show | a0001c0001t0001a0001c0011t0001a0002c0003t0005others(7): Show | a0001c0001t0001g0033 a0001c0001t0001g0089 a0001c0001t0001g0093 others(18): Show |
21 | 249 | 0.0843 | 3 | c.205 others(20): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 18/28 | chr19 | TogoVar | |||||||
ATP8B3_chr19_1777075_1817276 | 1815819 | T | TCAG | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01069.hp2 HG01256.hp2 others(5): Show |
a0003a0004 | a0003c0002a0003c0005a0004c0017 | a0003c0002t0013a0003c0005t0010a0003c0005t0013others(1): Show | a0003c0002t0013g0375 a0003c0005t0010g0377 a0003c0005t0010g0378 others(5): Show |
8 | 388 | 0.0206 | 3 | c.-37 others(14): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 3544 | chr19 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 49909722 | C | CAAA | intron_variant | MODIFIER | HG00609.hp1 HG01069.hp2 HG01071.hp1 others(13): Show |
a0001a0003a0008 | a0001c0001a0003c0003a0008c0007 | a0001c0001t0002a0001c0001t0030a0003c0003t0001others(4): Show | a0001c0001t0002g0025 a0001c0001t0030g0149 a0003c0003t0001g0124 others(13): Show |
16 | 180 | 0.0889 | 3 | c.214 others(22): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 20/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50006489 | C | CAAA | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00438.hp1 others(35): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0014a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0109 others(35): Show |
38 | 217 | 0.1751 | 3 | c.436 others(20): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 7/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50056090 | C | CTCA | intron_variant | MODIFIER | HG01109.hp1 HG02258.hp2 HG02572.hp1 others(2): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0007 | a0001c0001t0031a0002c0002t0001a0008c0007t0001 | a0001c0001t0031g0242 a0002c0002t0001g0100 a0008c0007t0001g0241 others(2): Show |
5 | 252 | 0.0198 | 3 | c.88- others(18): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50086021 | T | TATG | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG01074.hp2 others(25): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0014a0002c0002others(5): Show | a0001c0001t0002a0001c0014t0001a0002c0002t0001others(9): Show | a0001c0001t0002g0017 a0001c0001t0002g0030 a0001c0001t0002g0038 others(25): Show |
28 | 221 | 0.1267 | 3 | c.29- others(20): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar |