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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP1A2_chr1_160110759_160148591 | 160119256 | CAAAAAAA | C | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp2 HG00639.hp1 others(74): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 others(36): Show |
77 | 78 | 0.9872 | -7 | c.13- others(22): Show |
ATP1A2 | ENSG00000018625.15 | transcript | ENST00000361216.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP1A4_chr1_160146603_160191980 | 160149555 | CAATACAG | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(21): Show |
a0001a0003a0004others(1): Show | a0001c0011a0001c0020a0001c0063others(5): Show | a0001c0011t0001a0001c0020t0001a0001c0063t0001others(5): Show | a0001c0011t0001g0015 a0001c0011t0001g0286 a0001c0011t0001g0396 others(20): Show |
24 | 416 | 0.0577 | -7 | c.-24 others(18): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 2047 | chr1 | TogoVar | |||||||
ATP1A4_chr1_160146603_160191980 | 160180694 | CTTTTTTT | C | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02559.hp1 others(11): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(6): Show | a0001c0001t0001g0347 a0001c0003t0001g0071 a0001c0005t0001g0036 others(11): Show |
14 | 29 | 0.4828 | -7 | c.273 others(24): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP1B1_chr1_169101690_169137719 | 169130779 | CAAAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00558.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0002g0131 a0001c0001t0003g0004 a0001c0001t0003g0007 others(27): Show |
39 | 125 | 0.3120 | -7 | c.649 others(22): Show |
ATP1B1 | ENSG00000143153.14 | transcript | ENST00000367815.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141874779 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02258.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0003g0296 a0001c0001t0004g0386 a0001c0001t0006g0095 others(4): Show |
7 | 20 | 0.3500 | -7 | c.-20 others(18): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1863 | chr3 | TogoVar | |||||||
ATP1B3_chr3_141871643_141931549 | 141889751 | ATATATAC | A | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02615.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0094 a0001c0001t0006g0100 a0001c0001t0006g0101 others(5): Show |
8 | 375 | 0.0213 | -7 | c.109 others(26): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
ATP1B3_chr3_141871643_141931549 | 141890285 | CTTTTTTT | C | intron_variant | MODIFIER | HG01361.hp1 HG01884.hp2 HG02027.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0254 a0001c0001t0001g0255 others(13): Show |
17 | 31 | 0.5484 | -7 | c.110 others(26): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP1B4_chrX_120357089_120388237 | 120372479 | AAAGGGGG | A | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 NA19240.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0011a0001c0001t0013 | a0001c0001t0008g0067 a0001c0001t0011g0028 a0001c0001t0013g0068 |
4 | 351 | 0.0114 | -7 | c.562 others(24): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP2A1_chr16_28873488_28909466 | 28891508 | GCTTGAAC | G | intron_variant | MODIFIER | NA18943.hp2 NA18995.hp1 NA19081.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0246 others(1): Show |
4 | 378 | 0.0106 | -7 | c.109 others(26): Show |
ATP2A1 | ENSG00000196296.14 | transcript | ENST00000395503.9 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3931523 | CTTTTTTT | C | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG01891.hp2 others(20): Show |
a0001a0002 | a0001c0001a0002c0006a0002c0015others(7): Show | a0001c0001t0001a0002c0006t0001a0002c0006t0010others(9): Show | a0001c0001t0001g0144 a0002c0006t0001g0007 a0002c0006t0001g0052 others(18): Show |
23 | 319 | 0.0721 | -7 | c.261 others(26): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 17/20 | chr17 | TogoVar | |||||||
ATP2A3_chr17_3918873_3969437 | 3940036 | TTTTTTTG | T | intron_variant | MODIFIER | HG01515.hp1 HG02055.hp1 HG02165.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0012others(2): Show | a0001c0001t0001a0001c0002t0004a0001c0002t0015others(3): Show | a0001c0001t0001g0196 a0001c0001t0001g0215 a0001c0001t0001g0240 others(6): Show |
9 | 330 | 0.0273 | -7 | c.210 others(24): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 14/20 | chr17 | TogoVar | |||||||
ATP2B2_chr3_10319023_10510586 | 10321737 | TATCTATC | T | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00597.hp2 others(37): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0017a0001c0001t0039others(16): Show | a0001c0001t0001g0063 a0001c0001t0001g0129 a0001c0001t0001g0145 others(36): Show |
40 | 288 | 0.1389 | -7 | c.*70 others(18): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 2285 | chr3 | TogoVar | |||||||
ATP2B4_chr1_203621832_203749081 | 203653976 | TATATATA | T | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01258.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0005a0003c0007others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(3): Show | a0001c0001t0001g0042 a0001c0001t0004g0254 a0001c0001t0004g0255 others(4): Show |
7 | 307 | 0.0228 | -7 | c.-46 others(28): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | chr1 | TogoVar | |||||||
ATP2B4_chr1_203621832_203749081 | 203653978 | TATATATA | T | intron_variant | MODIFIER | HG00558.hp1 HG01069.hp2 HG01071.hp1 others(36): Show |
a0001a0006a0007 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0073 a0001c0001t0001g0087 a0001c0001t0001g0091 others(36): Show |
39 | 264 | 0.1477 | -7 | c.-46 others(28): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | chr1 | TogoVar | |||||||
ATP2B4_chr1_203621832_203749081 | 203674637 | CTTTTTTT | C | intron_variant | MODIFIER | HG00621.hp1 HG01978.hp2 HG02027.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(5): Show | a0001c0001t0002g0195 a0001c0001t0002g0291 a0001c0001t0005g0059 others(6): Show |
9 | 34 | 0.2647 | -7 | c.-46 others(26): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203719240 | AAAAAAGC | A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(118): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0040 others(118): Show |
121 | 316 | 0.3829 | -7 | c.240 others(26): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2C1_chr3_130889084_131008150 | 130890828 | TTATCTTA | T | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00673.hp1 NA18940.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0030 others(11): Show |
16 | 380 | 0.0421 | -7 | c.-36 others(18): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 3255 | chr3 | TogoVar | |||||||
ATP2C2_chr16_84363538_84469187 | 84396549 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG01070.hp2 HG01261.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0410 a0001c0001t0002g0396 a0001c0001t0002g0405 others(6): Show |
9 | 152 | 0.0592 | -7 | c.100 others(24): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84424576 | CTTTTTTT | C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01167.hp1 others(10): Show |
a0001a0002a0007others(2): Show | a0001c0003a0002c0004a0002c0007others(4): Show | a0001c0003t0001a0002c0004t0001a0002c0004t0002others(5): Show | a0001c0003t0001g0286 a0002c0004t0001g0001 a0002c0004t0001g0392 others(9): Show |
13 | 129 | 0.1008 | -7 | c.920 others(24): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84444162 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(247): Show |
a0001a0002a0007others(11): Show | a0001c0001a0001c0002a0001c0003others(38): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0079 a0001c0001t0001g0329 a0001c0001t0001g0334 others(246): Show |
250 | 346 | 0.7225 | -7 | c.140 others(26): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP5MC2_chr12_53660170_53681083 | 53677077 | CATAAAAA | C | upstream_gene_variant | MODIFIER | HG02040.hp1 HG02040.hp2 NA18993.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0150 |
3 | 416 | 0.0072 | -7 | c.-10 others(18): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 995 | chr12 | TogoVar | |||||||
ATP5MC3_chr2_175171258_175186710 | 175174742 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG02055.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0043 |
7 | 75 | 0.0933 | -7 | c.*35 others(18): Show |
ATP5MC3 | ENSG00000154518.10 | transcript | ENST00000284727.9 | protein_coding | 1515 | chr2 | TogoVar | |||||||
ATP5MF_chr7_99453195_99471167 | 99466717 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02486.hp1 HG02572.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0081 a0001c0001t0002g0013 others(10): Show |
17 | 24 | 0.7083 | -7 | c.-58 others(16): Show |
ATP5MF | ENSG00000241468.8 | transcript | ENST00000292475.8 | protein_coding | 551 | chr7 | TogoVar | |||||||
ATP5MJ_chr14_103907288_103926529 | 103925043 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01074.hp1 HG02280.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0137 a0002c0002t0001g0007 a0002c0002t0001g0062 others(2): Show |
13 | 338 | 0.0385 | -7 | c.-35 others(18): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 3515 | chr14 | TogoVar | |||||||
ATP5PB_chr1_111444464_111467773 | 111457026 | TGATTTAA | T | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00741.hp1 others(36): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0007a0001c0001t0024others(1): Show | a0001c0001t0003g0004 a0001c0001t0003g0022 a0001c0001t0003g0039 others(6): Show |
39 | 432 | 0.0903 | -7 | c.513 others(22): Show |
ATP5PB | ENSG00000116459.11 | transcript | ENST00000369722.8 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
ATP5PD_chr17_75033863_75051969 | 75035567 | TCCCAACA | T | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01069.hp1 HG01515.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0003 a0001c0001t0001g0114 a0001c0001t0002g0002 others(5): Show |
11 | 426 | 0.0258 | -7 | c.*33 others(18): Show |
ATP5PD | ENSG00000167863.12 | transcript | ENST00000301587.9 | protein_coding | 3295 | chr17 | TogoVar | |||||||
ATP6V0A2_chr12_123707353_123766755 | 123708979 | ATTTTTTT | A | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01109.hp2 HG01256.hp2 others(8): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0005a0001c0001t0009a0001c0001t0017others(2): Show | a0001c0001t0005g0122 a0001c0001t0005g0123 a0001c0001t0005g0124 others(8): Show |
11 | 72 | 0.1528 | -7 | c.-35 others(18): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 3373 | chr12 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138707189 | ATATATAT | A | intron_variant | MODIFIER | HG01515.hp2 HG01517.hp2 HG02602.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0299 a0002c0003t0001g0167 a0002c0003t0001g0168 |
3 | 321 | 0.0093 | -7 | c.243 others(24): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 21/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138722744 | CAAAAAAA | C | intron_variant | MODIFIER | HG00733.hp1 HG01074.hp2 HG01109.hp2 others(36): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(5): Show | a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0056 others(36): Show |
39 | 160 | 0.2438 | -7 | c.201 others(24): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 18/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138800698 | CTTCTTCT | C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG01358.hp1 others(15): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0010a0002c0002others(4): Show | a0001c0001t0001a0001c0010t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0087 others(15): Show |
18 | 374 | 0.0481 | -7 | c.-27 others(18): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 2503 | chr7 | TogoVar | |||||||
ATP6V0D2_chr8_86093910_86159225 | 86095167 | TTCTTAAA | T | upstream_gene_variant | MODIFIER | NA18968.hp1 NA18970.hp2 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0248 |
3 | 358 | 0.0084 | -7 | c.-38 others(18): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 3742 | chr8 | TogoVar | |||||||
ATP6V0D2_chr8_86093910_86159225 | 86101462 | GAAAAAAA | G | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02723.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0315 a0001c0001t0001g0316 others(5): Show |
8 | 184 | 0.0435 | -7 | c.130 others(24): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86133316 | CTTTTTTT | C | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG03195.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0166 a0001c0001t0001g0311 a0001c0001t0001g0323 others(3): Show |
6 | 186 | 0.0323 | -7 | c.303 others(24): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86145363 | AAGGAAGG | A | intron_variant | MODIFIER | HG00099.hp2 HG01243.hp2 HG01433.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0038 a0001c0001t0001g0281 a0001c0001t0001g0297 others(10): Show |
13 | 358 | 0.0363 | -7 | c.639 others(24): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V0E1_chr5_172978771_173040445 | 173032254 | TTTATTTA | T | intron_variant | MODIFIER | HG00423.hp2 HG00738.hp2 HG01070.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0056 others(8): Show |
11 | 237 | 0.0464 | -7 | c.*37 others(24): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATP6V1A_chr3_113742035_113817056 | 113747010 | GCCCCCCC | G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG01106.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(21): Show |
25 | 42 | 0.5952 | -7 | c.-11 others(16): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 24 | chr3 | TogoVar | |||||||
ATP6V1A_chr3_113742035_113817056 | 113771429 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp1 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0017 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 others(43): Show |
49 | 149 | 0.3289 | -7 | c.-13 others(24): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70940907 | CTTTTTCT | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00642.hp1 others(75): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(56): Show |
78 | 241 | 0.3237 | -7 | c.119 others(24): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70964112 | GTATTTTT | G | intron_variant | MODIFIER | HG01099.hp1 HG01167.hp2 HG02145.hp2 others(18): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0002c0013others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0007t0001others(3): Show | a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0046 others(15): Show |
21 | 435 | 0.0483 | -7 | c.114 others(24): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1C1_chr8_103016083_103078051 | 103047456 | ACACACAC | A | intron_variant | MODIFIER | HG00323.hp1 HG01192.hp2 HG02004.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0033 | a0001c0001t0009g0012 a0001c0001t0009g0045 a0001c0001t0009g0227 others(2): Show |
9 | 410 | 0.0220 | -7 | c.201 others(24): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 3/12 | chr8 | TogoVar | |||||||
ATP6V1C2_chr2_10716630_10790110 | 10723837 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp2 others(167): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0001c0016others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0144 others(166): Show |
170 | 234 | 0.7265 | -7 | c.129 others(22): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1C2_chr2_10716630_10790110 | 10743991 | AAAAAAAT | A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00438.hp1 others(123): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0016others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(121): Show |
126 | 352 | 0.3580 | -7 | c.198 others(24): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1C2_chr2_10716630_10790110 | 10757003 | CTTTTTTT | C | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp1 HG00735.hp2 others(5): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0014 | a0001c0001t0002a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0002g0346 a0002c0002t0001g0092 a0002c0002t0001g0184 others(5): Show |
8 | 47 | 0.1702 | -7 | c.283 others(24): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1D_chr14_67332872_67364804 | 67362011 | TTTTTTTC | T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00621.hp1 HG01123.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0021 others(19): Show |
35 | 346 | 0.1012 | -7 | c.-23 others(18): Show |
ATP6V1D | ENSG00000100554.12 | transcript | ENST00000216442.12 | protein_coding | 2208 | chr14 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17631706 | ATTTTTTT | A | upstream_gene_variant | MODIFIER | HG01261.hp1 HG01516.hp2 HG01517.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0076 a0001c0001t0003g0305 a0001c0001t0003g0307 others(4): Show |
7 | 191 | 0.0366 | -7 | c.-30 others(18): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2958 | chr22 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53755733 | TATATATA | T | intron_variant | MODIFIER | HG02572.hp1 NA18959.hp2 NA19003.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0168 a0001c0001t0001g0187 a0001c0001t0001g0233 others(1): Show |
4 | 281 | 0.0142 | -7 | c.127 others(24): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53755735 | TATATATA | T | intron_variant | MODIFIER | HG02132.hp1 HG03453.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0035 a0001c0001t0001g0191 a0001c0001t0001g0197 others(1): Show |
4 | 281 | 0.0142 | -7 | c.127 others(24): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53755737 | TATATATA | T | intron_variant | MODIFIER | HG00323.hp2 HG00741.hp2 HG01952.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0177 others(2): Show |
5 | 282 | 0.0177 | -7 | c.127 others(24): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53765451 | AACAACAC | A | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp2 HG01071.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0003 a0001c0001t0001g0050 a0001c0001t0001g0190 others(12): Show |
15 | 223 | 0.0673 | -7 | c.117 others(26): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53827508 | TGAACACA | T | intron_variant | MODIFIER | HG00741.hp1 HG01109.hp1 HG01891.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(12): Show |
15 | 284 | 0.0528 | -7 | c.306 others(24): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | TogoVar |