regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP2B4_chr1_203621832_203749081 | 203686685 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(39): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0023others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0041a0001c0001t0001g0057others(39): Show | 42 | 318 | 0.1321 | 15 | c.193 others(32): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203719225 | G | GAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0136 | 1 | 318 | 0.0031 | 15 | c.240 others(34): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203723457 | T | TCTCTCTC others(8): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 318 | 0.0031 | 15 | c.302 others(32): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2C1_chr3_130889084_131008150 | 130903700 | C | CCCTTTCC others(8): Show |
intron_variant | MODIFIER | HG02970.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0195a0001c0001t0002g0196 | 2 | 382 | 0.0052 | 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 | a0001c0001t0001g0313a0001c0002t0002g0090a0001c0002t0002g0097others(8): Show | 11 | 432 | 0.0255 | 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 | a0001c0003t0001g0011 | 1 | 432 | 0.0023 | 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 | a0001c0001t0002g0140 | 1 | 420 | 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 | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0003g0003 | 63 | 334 | 0.1886 | 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 | a0001c0001t0002g0002a0001c0001t0002g0004 | 26 | 334 | 0.0778 | 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 | a0001c0001t0001g0176 | 1 | 418 | 0.0024 | 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 | a0001c0001t0001g0015a0001c0001t0001g0112 | 5 | 418 | 0.0120 | 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 | a0001c0001t0001g0094 | 1 | 418 | 0.0024 | 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 | a0001c0001t0003a0001c0001t0004a0001c0001t0010 | a0001c0001t0003g0000a0001c0001t0004g0000a0001c0001t0010g0000 | 7 | 374 | 0.0187 | 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 | a0001c0001t0001g0145 | 1 | 440 | 0.0023 | 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 | a0001c0001t0001g0143 | 1 | 440 | 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 | a0002c0002t0001g0015a0002c0002t0001g0043a0002c0002t0001g0180others(1): Show | 4 | 440 | 0.0091 | 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 | a0001c0001t0002g0109 | 1 | 428 | 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 |
a0001a0003a0010 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0064others(40): Show | 43 | 222 | 0.1937 | 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 | 222 | 0.0045 | 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 | a0008c0024t0002g0325 | 1 | 376 | 0.0027 | 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 | a0001c0001t0001g0126a0003c0037t0009g0345 | 2 | 376 | 0.0053 | 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 | 376 | 0.0027 | 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 | a0001c0001t0001g0064a0001c0001t0001g0136a0001c0014t0001g0094others(2): Show | 5 | 376 | 0.0133 | 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(253): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0005a0001c0007others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0010a0001c0001t0001g0027a0001c0001t0001g0028others(253): Show | 256 | 376 | 0.6809 | 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 | a0001c0001t0002g0099a0001c0001t0002g0100 | 2 | 360 | 0.0056 | 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 | a0001c0001t0007g0281a0001c0001t0007g0282 | 2 | 312 | 0.0064 | 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 |
a0001a0003a0004 | a0001c0001a0001c0007a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0007t0001others(2): Show | a0001c0001t0001g0013a0001c0001t0001g0026a0001c0001t0001g0038others(10): Show | 13 | 440 | 0.0296 | 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 | a0002c0006t0001g0272 | 1 | 440 | 0.0023 | 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 | a0006 | a0006c0014 | a0006c0014t0021 | a0006c0014t0021g0179 | 1 | 354 | 0.0028 | 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 | a0001c0001t0002g0024a0001c0001t0002g0063a0001c0001t0002g0072others(3): Show | 7 | 348 | 0.0201 | 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 | 370 | 0.0027 | 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 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0079a0001c0001t0001g0186 | 3 | 370 | 0.0081 | 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 | a0001c0001t0001g0085 | 1 | 370 | 0.0027 | 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 | 405 | 0.0025 | 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 | a0001c0001t0004g0265a0001c0001t0004g0266 | 2 | 286 | 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 | a0013 | a0013c0011 | a0013c0011t0007 | a0013c0011t0007g0175 | 1 | 233 | 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 | a0002c0002t0002g0044a0002c0002t0002g0045 | 2 | 233 | 0.0086 | 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 | a0002c0002t0002g0006a0002c0002t0002g0046a0002c0002t0002g0050others(22): Show | 26 | 302 | 0.0861 | 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 | a0001c0001t0002g0049a0001c0001t0003g0275a0001c0001t0004g0076others(23): Show | 26 | 310 | 0.0839 | 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 | a0001c0002t0004g0030a0001c0002t0004g0109 | 2 | 310 | 0.0065 | 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 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0048others(69): Show | 72 | 310 | 0.2323 | 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 | a0001c0002t0006g0119a0001c0002t0010g0118a0001c0002t0022g0117others(2): Show | 5 | 122 | 0.0410 | 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(99): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(89): Show | a0001c0001t0001g0036a0001c0001t0002g0079a0001c0001t0003g0093others(99): Show | 102 | 122 | 0.8361 | 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 | 122 | 0.0082 | 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 | 122 | 0.0082 | 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 | a0001c0001t0013g0005a0001c0001t0035g0043a0001c0002t0010g0118others(2): Show | 5 | 122 | 0.0410 | 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 | a0001c0001t0016g0104a0001c0001t0018g0041a0001c0001t0035g0043others(12): Show | 15 | 122 | 0.1230 | 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(222): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0009others(222): Show | 225 | 314 | 0.7166 | 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 | 314 | 0.0032 | 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 | a0002c0002t0014g0207a0002c0002t0014g0237a0002c0002t0014g0266others(6): Show | 9 | 314 | 0.0287 | 15 | c.163 others(34): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 15/27 | chr18 | TogoVar |