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 | 25616310 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02723.hp2 NA19030.hp2 others(2): Show |
a0001 | a0001c0001a0001c0007a0001c0009 | a0001c0001t0024a0001c0001t0054a0001c0001t0074others(2): Show | a0001c0001t0024g0004 a0001c0001t0054g0103 a0001c0001t0074g0116 others(2): Show |
5 | 119 | 0.0420 | 8 | c.221 others(29): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25701723 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02965.hp2 HG02976.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0001t0042a0001c0001t0066others(2): Show | a0001c0001t0013g0006 a0001c0001t0042g0059 a0001c0001t0066g0092 others(2): Show |
5 | 26 | 0.1923 | 8 | c.238 others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25704337 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01261.hp1 others(3): Show |
a0001 | a0001c0001a0001c0007a0001c0011 | a0001c0001t0011a0001c0001t0013a0001c0001t0042others(2): Show | a0001c0001t0011g0062 a0001c0001t0011g0063 a0001c0001t0013g0006 others(3): Show |
6 | 101 | 0.0594 | 8 | c.238 others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25717418 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01175.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0016others(1): Show | a0001c0001t0011a0001c0003t0001a0001c0016t0045others(1): Show | a0001c0001t0011g0061 a0001c0003t0001g0106 a0001c0016t0045g0105 others(1): Show |
4 | 62 | 0.0645 | 8 | c.238 others(29): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25723379 | C | CTTTATAC others(1): Show |
intron_variant | MODIFIER | HG01175.hp2 NA18522.hp1 |
a0001 | a0001c0002a0001c0019 | a0001c0002t0003a0001c0019t0007 | a0001c0002t0003g0087 a0001c0019t0007g0028 |
2 | 120 | 0.0167 | 8 | c.238 others(29): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25743448 | T | TTAGCATG others(1): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01358.hp2 HG02015.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0051a0001c0002t0001others(3): Show | a0001c0001t0002g0079 a0001c0001t0051g0053 a0001c0002t0001g0032 others(3): Show |
6 | 120 | 0.0500 | 8 | c.238 others(29): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25762268 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG02015.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0002t0006others(7): Show | a0001c0001t0001g0036 a0001c0001t0009g0065 a0001c0002t0006g0119 others(7): Show |
10 | 16 | 0.6250 | 8 | c.238 others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25791542 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0053a0001c0001t0066 | a0001c0001t0053g0114 a0001c0001t0066g0092 |
2 | 17 | 0.1176 | 8 | c.267 others(29): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25794820 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01081.hp1 HG03195.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0054a0001c0002t0001a0001c0002t0003others(5): Show | a0001c0001t0054g0103 a0001c0002t0001g0069 a0001c0002t0003g0087 others(5): Show |
8 | 25 | 0.3200 | 8 | c.267 others(29): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25814098 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG00741.hp1 others(38): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0036 a0001c0001t0003g0093 a0001c0001t0004g0040 others(38): Show |
41 | 45 | 0.9111 | 8 | c.268 others(29): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25829668 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02630.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0016a0001c0001t0053a0001c0003t0006others(1): Show | a0001c0001t0016g0104 a0001c0001t0053g0114 a0001c0003t0006g0078 others(1): Show |
4 | 14 | 0.2857 | 8 | c.275 others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25889245 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02622.hp1 HG03130.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0008a0001c0001t0025a0001c0002t0001others(5): Show | a0001c0001t0008g0073 a0001c0001t0025g0009 a0001c0002t0001g0032 others(5): Show |
8 | 29 | 0.2759 | 8 | c.318 others(29): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25902939 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02809.hp1 HG03540.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0026a0001c0002t0039a0001c0002t0063others(1): Show | a0001c0001t0026g0089 a0001c0002t0039g0099 a0001c0002t0063g0050 others(1): Show |
4 | 56 | 0.0714 | 8 | c.318 others(29): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25937362 | C | CTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02886.hp2 NA19240.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0015a0001c0001t0050a0001c0001t0064others(1): Show | a0001c0001t0015g0016 a0001c0001t0050g0025 a0001c0001t0064g0072 others(1): Show |
4 | 20 | 0.2000 | 8 | c.318 others(29): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 26002848 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01175.hp1 HG01261.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0042a0001c0001t0051a0001c0002t0071others(1): Show | a0001c0001t0042g0059 a0001c0001t0051g0053 a0001c0002t0071g0096 others(1): Show |
4 | 24 | 0.1667 | 8 | c.337 others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 35/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57648882 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01074.hp1 HG01257.hp2 others(19): Show |
a0001a0007 | a0001c0001a0001c0005a0001c0016others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0012 a0001c0001t0001g0053 a0001c0001t0001g0121 others(19): Show |
22 | 32 | 0.6875 | 8 | c.353 others(25): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 27/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57672883 | A | AGTATATA others(1): Show |
intron_variant | MODIFIER | HG04115.hp2 NA18970.hp1 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012 | a0001c0001t0003g0194 a0001c0001t0003g0264 a0001c0001t0012g0178 |
3 | 214 | 0.0140 | 8 | c.182 others(27): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 16/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57713157 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01257.hp1 HG01257.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0077 a0001c0001t0001g0097 a0001c0001t0001g0115 others(20): Show |
23 | 218 | 0.1055 | 8 | c.182 others(25): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57713236 | C | CTTCTTTC others(1): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01943.hp2 NA18955.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0130 a0001c0001t0003g0258 a0001c0001t0006g0074 |
3 | 282 | 0.0106 | 8 | c.182 others(25): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57729549 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00741.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0013a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0067 others(22): Show |
25 | 26 | 0.9615 | 8 | c.181 others(25): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57732215 | G | GTGTATAT others(1): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02698.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0025a0001c0001t0049 | a0001c0001t0002g0276 a0001c0001t0025g0306 a0001c0001t0049g0309 |
3 | 306 | 0.0098 | 8 | c.-25 others(23): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57732842 | C | CGTGAGCC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(305): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 others(305): Show |
308 | 312 | 0.9872 | 8 | c.-25 others(25): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57756236 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02080.hp1 HG02083.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(3): Show | a0001c0001t0001g0043 a0001c0001t0005g0042 a0001c0001t0005g0071 others(6): Show |
9 | 141 | 0.0638 | 8 | c.-25 others(27): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57756305 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02572.hp1 HG02698.hp1 others(10): Show |
a0001a0004 | a0001c0001a0001c0013a0004c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0009 a0001c0001t0001g0078 a0001c0001t0002g0202 others(10): Show |
13 | 149 | 0.0872 | 8 | c.-25 others(27): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57782803 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01433.hp2 HG01517.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0067 a0001c0001t0002g0227 a0001c0001t0002g0228 others(5): Show |
8 | 10 | 0.8000 | 8 | c.-26 others(27): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57794792 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01255.hp1 HG01255.hp2 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0006 a0001c0001t0001g0112 a0001c0001t0001g0131 others(16): Show |
19 | 122 | 0.1557 | 8 | c.-26 others(25): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B2_chr1_154320525_154356304 | 154322490 | T | TTCTTCTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(73): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0006a0002c0008others(3): Show | a0001c0003t0002a0001c0003t0009a0001c0003t0025others(6): Show | a0001c0003t0002g0004 a0001c0003t0002g0009 a0001c0003t0002g0026 others(40): Show |
76 | 380 | 0.2000 | 8 | c.-32 others(19): Show |
ATP8B2 | ENSG00000143515.20 | transcript | ENST00000368489.6 | protein_coding | 3034 | chr1 | TogoVar | |||||||
ATP8B3_chr19_1777075_1817276 | 1778866 | T | TCACACAC others(1): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG01928.hp2 HG02129.hp2 others(6): Show |
a0001a0003a0004others(2): Show | a0001c0006a0001c0008a0001c0052others(4): Show | a0001c0006t0002a0001c0006t0004a0001c0008t0003others(5): Show | a0001c0006t0002g0037 a0001c0006t0004g0372 a0001c0008t0003g0175 others(6): Show |
9 | 141 | 0.0638 | 8 | c.*41 others(19): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 3208 | chr19 | TogoVar | |||||||
ATP8B3_chr19_1777075_1817276 | 1780973 | T | TAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 HG01891.hp1 HG02055.hp2 others(4): Show |
a0001a0007a0010others(2): Show | a0001c0030a0007c0023a0007c0038others(3): Show | a0001c0030t0009a0007c0023t0007a0007c0038t0007others(3): Show | a0001c0030t0009g0109 a0007c0023t0007g0052 a0007c0038t0007g0179 others(4): Show |
7 | 91 | 0.0769 | 8 | c.*20 others(19): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 1101 | chr19 | TogoVar | |||||||
ATP8B3_chr19_1777075_1817276 | 1781597 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(92): Show |
a0001a0002a0003others(13): Show | a0001c0004a0001c0006a0001c0008others(25): Show | a0001c0004t0002a0001c0006t0002a0001c0008t0002others(27): Show | a0001c0004t0002g0032 a0001c0004t0002g0069 a0001c0004t0002g0082 others(89): Show |
95 | 199 | 0.4774 | 8 | c.*14 others(19): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 477 | chr19 | TogoVar | |||||||
ATP8B3_chr19_1777075_1817276 | 1797468 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG02300.hp2 others(5): Show |
a0001a0002a0014 | a0001c0001a0001c0004a0001c0024others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0004t0003others(3): Show | a0001c0001t0001g0063 a0001c0001t0001g0096 a0001c0001t0006g0370 others(5): Show |
8 | 122 | 0.0656 | 8 | c.155 others(25): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 14/28 | chr19 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 49861402 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG02717.hp2 NA18950.hp1 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0030a0002c0002t0002a0003c0003t0001 | a0001c0001t0030g0149 a0002c0002t0002g0066 a0003c0003t0001g0199 |
3 | 136 | 0.0221 | 8 | c.329 others(25): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 27/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 49861473 | T | TCTACCTA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG03654.hp2 HG03710.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0219 a0001c0001t0002g0057 a0002c0002t0001g0203 |
3 | 131 | 0.0229 | 8 | c.329 others(25): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 27/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 49913124 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG02622.hp1 others(10): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0003a0004c0004others(3): Show | a0001c0001t0001a0001c0001t0019a0003c0003t0001others(6): Show | a0001c0001t0001g0177 a0001c0001t0019g0026 a0003c0003t0001g0175 others(10): Show |
13 | 223 | 0.0583 | 8 | c.214 others(27): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 20/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 49978739 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00558.hp1 others(9): Show |
a0002a0011 | a0002c0002a0011c0012 | a0002c0002t0001a0002c0002t0002a0002c0002t0006others(1): Show | a0002c0002t0001g0121 a0002c0002t0001g0150 a0002c0002t0001g0163 others(9): Show |
12 | 49 | 0.2449 | 8 | c.103 others(25): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 12/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50003274 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(48): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0002c0021others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0026others(13): Show | a0001c0001t0001g0206 a0001c0001t0002g0032 a0001c0001t0002g0045 others(48): Show |
51 | 151 | 0.3377 | 8 | c.436 others(25): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 7/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50021118 | T | TGATAGAT others(1): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02647.hp1 HG02896.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0019a0002c0002t0002a0003c0003t0001others(2): Show | a0001c0001t0019g0026 a0002c0002t0002g0028 a0002c0002t0002g0049 others(4): Show |
7 | 124 | 0.0565 | 8 | c.363 others(27): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 6/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50029238 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG01258.hp1 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0014a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0031others(8): Show | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0254 others(14): Show |
17 | 59 | 0.2881 | 8 | c.362 others(25): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 6/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50073019 | T | TATATACA others(1): Show |
intron_variant | MODIFIER | HG02818.hp2 NA18906.hp2 NA18963.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002a0003c0003t0004 | a0003c0003t0001g0158 a0003c0003t0002g0014 a0003c0003t0002g0035 others(1): Show |
4 | 138 | 0.0290 | 8 | c.87+ others(23): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50073019 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG02647.hp2 HG06807.hp2 NA19064.hp1 |
a0003a0005 | a0003c0003a0005c0005 | a0003c0003t0001a0003c0003t0002a0005c0005t0002 | a0003c0003t0001g0162 a0003c0003t0002g0008 a0005c0005t0002g0007 |
3 | 137 | 0.0219 | 8 | c.87+ others(23): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51600807 | A | AACACACA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00558.hp2 HG01257.hp1 HG01496.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0024a0001c0001t0032a0001c0001t0035others(3): Show | a0001c0001t0024g0043 a0001c0001t0024g0288 a0001c0001t0032g0199 others(4): Show |
7 | 122 | 0.0574 | 8 | c.*39 others(17): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 28/28 | 403 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51608922 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(51): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(24): Show | a0001c0001t0001g0239 a0001c0001t0003g0057 a0001c0001t0003g0213 others(51): Show |
54 | 59 | 0.9153 | 8 | c.263 others(25): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 24/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51623801 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(46): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0022a0001c0001t0046a0001c0002t0049others(25): Show | a0001c0001t0022g0045 a0001c0001t0046g0310 a0001c0002t0049g0091 others(46): Show |
49 | 196 | 0.2500 | 8 | c.201 others(27): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 18/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51634855 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG01069.hp2 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(17): Show | a0001c0001t0001g0171 a0001c0001t0001g0251 a0001c0001t0001g0252 others(40): Show |
43 | 127 | 0.3386 | 8 | c.166 others(27): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51635802 | G | GAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02055.hp1 HG02109.hp1 others(11): Show |
a0001 | a0001c0003a0001c0015a0001c0018 | a0001c0003t0007a0001c0003t0010a0001c0003t0014others(8): Show | a0001c0003t0007g0040 a0001c0003t0007g0132 a0001c0003t0010g0125 others(11): Show |
14 | 69 | 0.2029 | 8 | c.166 others(27): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51638069 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02895.hp1 HG02895.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0010a0001c0001t0012others(1): Show | a0001c0001t0009g0020 a0001c0001t0010g0273 a0001c0001t0012g0134 others(2): Show |
5 | 139 | 0.0360 | 8 | c.166 others(27): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51638071 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01106.hp2 HG01168.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0036a0001c0002t0004a0001c0003t0014others(6): Show | a0001c0001t0036g0119 a0001c0002t0004g0144 a0001c0002t0004g0145 others(11): Show |
14 | 178 | 0.0787 | 8 | c.166 others(27): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51641831 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01167.hp2 HG01257.hp2 others(7): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0094 a0001c0001t0002g0195 a0001c0001t0002g0242 others(7): Show |
10 | 110 | 0.0909 | 8 | c.150 others(27): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 14/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51650902 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01891.hp1 HG02622.hp1 others(2): Show |
a0001 | a0001c0001a0001c0017 | a0001c0001t0008a0001c0001t0009a0001c0001t0062others(2): Show | a0001c0001t0008g0073 a0001c0001t0009g0079 a0001c0001t0062g0111 others(2): Show |
5 | 145 | 0.0345 | 8 | c.150 others(27): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 14/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51658885 | T | TGGCGGTG others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG01070.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(3): Show | a0001c0001t0001g0193 a0001c0001t0001g0254 a0001c0001t0001g0259 others(6): Show |
9 | 310 | 0.0290 | 8 | c.129 others(27): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 13/27 | chr20 | TogoVar |