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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP2C1_chr3_130889084_131008150 | 130903700 | C | CCCTTTCC others(8): Show |
intron_variant | MODIFIER | HG02970.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0217 a0001c0001t0002g0218 |
2 | 110 | 0.0182 | 15 | c.6+8 others(28): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84397655 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01074.hp2 HG03654.hp1 NA18940.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0066others(3): Show | a0001c0001t0001a0001c0002t0002a0001c0066t0002others(3): Show | a0001c0001t0001g0312 a0001c0002t0002g0094 a0001c0002t0002g0098 others(8): Show |
11 | 30 | 0.3667 | 15 | c.100 others(30): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84424576 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0012 | 1 | 117 | 0.0085 | 15 | c.920 others(32): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP5F1C_chr10_7783177_7812801 | 7808556 | A | AGGGGGGG others(8): Show |
downstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0138 | 1 | 418 | 0.0024 | 15 | c.*92 others(24): Show |
ATP5F1C | ENSG00000165629.20 | transcript | ENST00000356708.12 | protein_coding | 756 | chr10 | TogoVar | |||||||
ATP5MC1_chr17_48887787_48900871 | 48890144 | A | AAAAAGAA others(8): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00735.hp1 HG01069.hp2 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0003g0003 |
63 | 215 | 0.2930 | 15 | c.-27 others(26): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 2642 | chr17 | TogoVar | |||||||
ATP5MC1_chr17_48887787_48900871 | 48899067 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 HG01243.hp1 HG01243.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0004 |
26 | 33 | 0.7879 | 15 | c.*32 others(26): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 3197 | chr17 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53667995 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 408 | 0.0025 | 15 | c.311 others(32): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53672083 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03540.hp2 NA18939.hp1 NA18951.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0088 |
5 | 72 | 0.0694 | 15 | c.39+ others(28): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
ATP5MC2_chr12_53660170_53681083 | 53678340 | T | TCACCACC others(8): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 265 | 0.0038 | 15 | c.-23 others(26): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 2258 | chr12 | TogoVar | |||||||
ATP5MGL_chr22_42634803_42645601 | 42638728 | T | TAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 HG02109.hp1 HG02486.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0000 a0001c0001t0004g0000 |
7 | 67 | 0.1045 | 15 | c.*12 others(26): Show |
ATP5MGL | ENSG00000249222.1 | transcript | ENST00000505920.1 | protein_coding | 1074 | chr22 | TogoVar | |||||||
ATP5MJ_chr14_103907288_103926529 | 103914849 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 319 | 0.0031 | 15 | c.124 others(30): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 2/3 | chr14 | TogoVar | |||||||
ATP5MJ_chr14_103907288_103926529 | 103914850 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 438 | 0.0023 | 15 | c.124 others(30): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 2/3 | chr14 | TogoVar | |||||||
ATP5MJ_chr14_103907288_103926529 | 103925043 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 HG01167.hp1 NA18612.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0015 a0002c0002t0001g0043 a0002c0002t0001g0180 others(1): Show |
4 | 329 | 0.0122 | 15 | c.-35 others(26): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 3515 | chr14 | TogoVar | |||||||
ATP5PD_chr17_75033863_75051969 | 75051779 | C | CAAACTCA others(8): Show |
upstream_gene_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0104 | 1 | 426 | 0.0023 | 15 | c.-48 others(26): Show |
ATP5PD | ENSG00000167863.12 | transcript | ENST00000301587.9 | protein_coding | 4811 | chr17 | TogoVar | |||||||
ATP6V0A2_chr12_123707353_123766755 | 123729322 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01099.hp2 HG01358.hp1 others(40): Show |
a0001a0003a0007 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0064 others(40): Show |
43 | 99 | 0.4343 | 15 | c.648 others(32): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATP6V0A2_chr12_123707353_123766755 | 123765561 | A | ATCTATCT others(8): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0167 | 1 | 169 | 0.0059 | 15 | c.*75 others(26): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 3807 | chr12 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138718201 | G | GTGTGTGT others(8): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0008 | a0008c0024 | a0008c0024t0002 | a0008c0024t0002g0324 | 1 | 246 | 0.0041 | 15 | c.214 others(34): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 19/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138745658 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01891.hp1 NA19060.hp2 |
a0001a0003 | a0001c0001a0003c0037 | a0001c0001t0001a0003c0037t0009 | a0001c0001t0001g0126 a0003c0037t0009g0345 |
2 | 116 | 0.0172 | 15 | c.132 others(32): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 13/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138745962 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0003 | a0003c0037 | a0003c0037t0009 | a0003c0037t0009g0345 | 1 | 90 | 0.0111 | 15 | c.132 others(32): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 13/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138778290 | C | CACTTGAA others(8): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02976.hp1 HG03139.hp1 others(2): Show |
a0001 | a0001c0001a0001c0014a0001c0023 | a0001c0001t0001a0001c0014t0001a0001c0014t0004others(1): Show | a0001c0001t0001g0064 a0001c0001t0001g0136 a0001c0014t0001g0101 others(2): Show |
5 | 119 | 0.0420 | 15 | c.-17 others(32): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 2/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138778290 | C | CGCTTGAA others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(252): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0005a0001c0007others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0028 others(252): Show |
255 | 369 | 0.6911 | 15 | c.-17 others(32): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 2/21 | chr7 | TogoVar | |||||||
ATP6V0D2_chr8_86093910_86159225 | 86121604 | G | GGAGGAGG others(8): Show |
intron_variant | MODIFIER | HG03516.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111 a0001c0001t0002g0112 |
2 | 66 | 0.0303 | 15 | c.302 others(32): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V1A_chr3_113742035_113817056 | 113772933 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03098.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0279 a0001c0001t0007g0280 |
2 | 148 | 0.0135 | 15 | c.-13 others(32): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70965548 | T | TAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG02572.hp1 HG02818.hp1 others(10): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0002c0014others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0007t0001others(2): Show | a0001c0001t0001g0027 a0001c0001t0001g0043 a0001c0001t0001g0055 others(10): Show |
13 | 139 | 0.0935 | 15 | c.*42 others(24): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 118 | chr2 | TogoVar | |||||||
ATP6V1B1_chr2_70930900_70970431 | 70968945 | A | AGTTTTGT others(8): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0249 | 1 | 420 | 0.0024 | 15 | c.*38 others(26): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 3515 | chr2 | TogoVar | |||||||
ATP6V1C2_chr2_10716630_10790110 | 10788065 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | NA19005.hp2 | a0007 | a0007c0014 | a0007c0014t0021 | a0007c0014t0021g0179 | 1 | 204 | 0.0049 | 15 | c.*48 others(26): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 2956 | chr2 | TogoVar | |||||||
ATP6V1D_chr14_67332872_67364804 | 67351911 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02738.hp2 HG02965.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 a0001c0001t0002g0059 a0001c0001t0002g0067 others(3): Show |
7 | 222 | 0.0315 | 15 | c.159 others(32): Show |
ATP6V1D | ENSG00000100554.12 | transcript | ENST00000216442.12 | protein_coding | 2/8 | chr14 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17631706 | A | ATATATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005 | 1 | 185 | 0.0054 | 15 | c.-30 others(26): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2958 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17631706 | A | ATATATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG02027.hp2 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 a0001c0001t0001g0185 |
2 | 186 | 0.0108 | 15 | c.-30 others(26): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2958 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17631707 | T | TATATATA others(8): Show |
upstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 344 | 0.0029 | 15 | c.-30 others(26): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2959 | chr22 | TogoVar | |||||||
ATP6V1G3_chr1_198518222_198545680 | 198538891 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092 | 1 | 186 | 0.0054 | 15 | c.82+ others(30): Show |
ATP6V1G3 | ENSG00000151418.12 | transcript | ENST00000367382.6 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53807227 | C | CAAAGCCA others(8): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0263 a0001c0001t0004g0264 |
2 | 284 | 0.0070 | 15 | c.579 others(32): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 7/13 | chr8 | TogoVar | |||||||
ATP7A_chrX_77905693_78055395 | 78022635 | A | AGCCTCCT others(8): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0171 | 1 | 231 | 0.0043 | 15 | c.291 others(34): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP7A_chrX_77905693_78055395 | 78037980 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18952.hp1 NA19066.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0040 a0002c0002t0002g0041 |
2 | 77 | 0.0260 | 15 | c.351 others(32): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP7B_chr13_51927669_52016450 | 51953851 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG01069.hp1 others(23): Show |
a0002a0003a0005others(2): Show | a0002c0002a0002c0014a0002c0019others(5): Show | a0002c0002t0002a0002c0014t0002a0002c0019t0002others(5): Show | a0002c0002t0002g0006 a0002c0002t0002g0046 a0002c0002t0002g0050 others(22): Show |
26 | 161 | 0.1615 | 15 | c.244 others(34): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 9/20 | chr13 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42448396 | C | CTTTACTT others(8): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01167.hp1 HG01261.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0002g0049 a0001c0001t0003g0277 a0001c0001t0004g0073 others(23): Show |
26 | 131 | 0.1985 | 15 | c.289 others(34): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 30/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42500365 | A | AAAAACAA others(8): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0023 a0001c0002t0004g0109 |
2 | 146 | 0.0137 | 15 | c.215 others(34): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 24/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42657117 | G | GGAGGGGC others(8): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp2 others(69): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 others(69): Show |
72 | 308 | 0.2338 | 15 | c.-24 others(24): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 13 | chr4 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25389983 | C | CTTTTGTT others(8): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02895.hp1 HG03139.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0010a0001c0002t0022others(2): Show | a0001c0002t0006g0119 a0001c0002t0010g0118 a0001c0002t0022g0117 others(2): Show |
5 | 89 | 0.0562 | 15 | c.76+ others(32): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25399900 | A | ATTCTTCT others(8): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00738.hp2 others(98): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(88): Show | a0001c0001t0001g0036 a0001c0001t0002g0079 a0001c0001t0003g0093 others(98): Show |
101 | 120 | 0.8417 | 15 | c.76+ others(32): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25720167 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0020 | a0001c0020t0019 | a0001c0020t0019g0067 | 1 | 57 | 0.0175 | 15 | c.238 others(36): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25744925 | T | TTTTTCTT others(8): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0014 | a0001c0014t0034 | a0001c0014t0034g0064 | 1 | 114 | 0.0088 | 15 | c.238 others(36): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25813382 | T | TATATGAT others(8): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02895.hp2 HG03041.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0013a0001c0001t0035a0001c0002t0010others(2): Show | a0001c0001t0013g0006 a0001c0001t0035g0043 a0001c0002t0010g0118 others(2): Show |
5 | 41 | 0.1220 | 15 | c.268 others(36): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25937362 | C | CTTTCTTT others(8): Show |
intron_variant | MODIFIER | HG00738.hp1 HG00738.hp2 HG01175.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0016a0001c0001t0018a0001c0001t0035others(12): Show | a0001c0001t0016g0104 a0001c0001t0018g0041 a0001c0001t0035g0043 others(12): Show |
15 | 31 | 0.4839 | 15 | c.318 others(36): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57677492 | G | GCAGCTGT others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(221): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0006a0001c0007others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 others(221): Show |
224 | 312 | 0.7179 | 15 | c.163 others(34): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 15/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57680277 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 14 | 0.0714 | 15 | c.163 others(34): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 15/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57680585 | A | AAAAACAA others(8): Show |
intron_variant | MODIFIER | HG02080.hp1 NA18939.hp1 NA18939.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0014a0002c0002t0019a0002c0002t0037 | a0002c0002t0014g0207 a0002c0002t0014g0236 a0002c0002t0014g0266 others(6): Show |
9 | 189 | 0.0476 | 15 | c.163 others(34): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 15/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57680585 | A | AGAAACAA others(8): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0023 | 1 | 181 | 0.0055 | 15 | c.163 others(34): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 15/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57713199 | C | CTTTCTTT others(8): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0313 | 1 | 312 | 0.0032 | 15 | c.182 others(32): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57726237 | A | AAAAACAA others(8): Show |
intron_variant | MODIFIER | NA19000.hp1 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0067 a0001c0001t0008g0060 |
2 | 312 | 0.0064 | 15 | c.181 others(32): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar |