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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP5MJ_chr14_103907288_103926529 | 103922347 | A | ATATTT | upstream_gene_variant | MODIFIER | HG00673.hp2 HG02071.hp1 HG02080.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0142 others(3): Show |
12 | 315 | 0.0381 | 5 | c.-87 others(14): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 819 | chr14 | TogoVar | |||||||
ATP5MJ_chr14_103907288_103926529 | 103922348 | T | TATATA | upstream_gene_variant | MODIFIER | HG00423.hp1 HG01515.hp2 HG01517.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0024 others(10): Show |
16 | 413 | 0.0387 | 5 | c.-88 others(14): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 820 | chr14 | TogoVar | |||||||
ATP5PF_chr21_25719500_25739904 | 25730736 | C | CAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp2 HG01069.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0091 a0001c0001t0001g0109 others(3): Show |
9 | 29 | 0.3103 | 5 | c.-7- others(18): Show |
ATP5PF | ENSG00000154723.13 | transcript | ENST00000284971.8 | protein_coding | 1/3 | chr21 | TogoVar | |||||||
ATP5PF_chr21_25719500_25739904 | 25732985 | C | CAAAAA | intron_variant | MODIFIER | HG02280.hp1 HG02717.hp2 HG02886.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0137 a0001c0001t0001g0176 a0001c0001t0002g0014 |
7 | 75 | 0.0933 | 5 | c.-8+ others(20): Show |
ATP5PF | ENSG00000154723.13 | transcript | ENST00000284971.8 | protein_coding | 1/3 | chr21 | TogoVar | |||||||
ATP6AP1_chrX_154423677_154441516 | 154425927 | G | GTTTTT | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02109.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0002 | a0001c0001t0002g0003 a0001c0001t0002g0040 a0002c0003t0002g0007 others(3): Show |
10 | 119 | 0.0840 | 5 | c.-27 others(16): Show |
ATP6AP1 | ENSG00000071553.18 | transcript | ENST00000369762.7 | protein_coding | 2749 | chrX | TogoVar | |||||||
ATP6AP2_chrX_40575970_40611848 | 40603355 | C | CAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00639.hp1 others(50): Show |
a0001a0003a0005 | a0001c0002a0003c0004a0005c0008 | a0001c0002t0002a0001c0002t0003a0001c0002t0006others(3): Show | a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0016 others(33): Show |
53 | 85 | 0.6235 | 5 | c.859 others(22): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP6AP2_chrX_40575970_40611848 | 40608797 | T | TTTTTA | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00639.hp1 others(66): Show |
a0001a0003a0005 | a0001c0002a0001c0003a0001c0006others(2): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0006others(5): Show | a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0016 others(46): Show |
69 | 297 | 0.2323 | 5 | c.*30 others(16): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 1950 | chrX | TogoVar | |||||||
ATP6V0A1_chr17_42453878_42527579 | 42468843 | C | CTATTT | intron_variant | MODIFIER | HG00642.hp1 HG01361.hp1 HG02280.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0027 a0001c0001t0001g0149 a0001c0001t0001g0150 others(5): Show |
8 | 224 | 0.0357 | 5 | c.294 others(20): Show |
ATP6V0A1 | ENSG00000033627.18 | transcript | ENST00000343619.9 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ATP6V0A1_chr17_42453878_42527579 | 42485539 | G | GTTTGT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00642.hp2 others(64): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0011others(1): Show | a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0018 others(56): Show |
67 | 310 | 0.2161 | 5 | c.811 others(22): Show |
ATP6V0A1 | ENSG00000033627.18 | transcript | ENST00000343619.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ATP6V0A2_chr12_123707353_123766755 | 123717314 | C | CAAAAA | intron_variant | MODIFIER | HG01109.hp2 HG01256.hp2 HG02145.hp1 others(17): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0007 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 others(17): Show |
20 | 77 | 0.2597 | 5 | c.118 others(22): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATP6V0A2_chr12_123707353_123766755 | 123721190 | G | GTGTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(128): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(26): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(113): Show |
131 | 202 | 0.6485 | 5 | c.197 others(22): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATP6V0A2_chr12_123707353_123766755 | 123765585 | T | TATCTA | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02451.hp1 HG02486.hp1 others(4): Show |
a0002 | a0002c0004 | a0002c0004t0006a0002c0004t0007 | a0002c0004t0006g0005 a0002c0004t0006g0186 a0002c0004t0007g0179 others(3): Show |
7 | 210 | 0.0333 | 5 | c.*75 others(16): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 3831 | chr12 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138710192 | A | ATTTTT | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG01069.hp2 others(12): Show |
a0001a0002a0004 | a0001c0001a0001c0007a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(7): Show | a0001c0001t0001g0341 a0001c0001t0003g0097 a0001c0001t0003g0137 others(12): Show |
15 | 210 | 0.0714 | 5 | c.225 others(22): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 20/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138742900 | C | CAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00597.hp1 others(29): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(1): Show | a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0123 others(29): Show |
32 | 57 | 0.5614 | 5 | c.147 others(24): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 14/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138745960 | A | ATATAT | intron_variant | MODIFIER | HG03579.hp2 NA19058.hp2 NA19067.hp1 |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0002c0002t0001a0002c0003t0001 | a0001c0001t0001g0027 a0002c0002t0001g0280 a0002c0003t0001g0066 |
3 | 149 | 0.0201 | 5 | c.132 others(22): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 13/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138758739 | A | ATTTTT | intron_variant | MODIFIER | HG01069.hp1 HG01106.hp1 HG01109.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0134 a0001c0001t0001g0141 others(13): Show |
16 | 29 | 0.5517 | 5 | c.639 others(22): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 8/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138760444 | C | CAAAAA | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
a0001a0002a0004others(2): Show | a0001c0005a0001c0014a0002c0002others(4): Show | a0001c0005t0004a0001c0014t0001a0001c0014t0004others(6): Show | a0001c0005t0004g0177 a0001c0014t0001g0101 a0001c0014t0004g0102 others(10): Show |
13 | 279 | 0.0466 | 5 | c.513 others(20): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 7/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138777631 | A | ATACAC | intron_variant | MODIFIER | HG00733.hp2 HG01243.hp2 HG01884.hp2 others(24): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0010others(11): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(17): Show | a0001c0001t0001g0005 a0001c0001t0001g0033 a0001c0001t0001g0062 others(24): Show |
27 | 319 | 0.0846 | 5 | c.-17 others(22): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 2/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138797211 | T | TCTTTC | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG01074.hp1 others(30): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0007others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(14): Show | a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0024 others(30): Show |
33 | 374 | 0.0882 | 5 | c.-12 others(22): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 1/21 | chr7 | TogoVar | |||||||
ATP6V0D2_chr8_86093910_86159225 | 86096193 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00733.hp2 HG01070.hp2 HG01081.hp2 others(24): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0019 others(21): Show |
27 | 163 | 0.1656 | 5 | c.-27 others(16): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2716 | chr8 | TogoVar | |||||||
ATP6V0D2_chr8_86093910_86159225 | 86102334 | A | AAGGGC | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp2 others(144): Show |
a0001a0002a0007 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(139): Show |
147 | 358 | 0.4106 | 5 | c.130 others(22): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86114679 | A | ATAAAT | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp2 others(145): Show |
a0001a0002a0007 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(138): Show |
148 | 358 | 0.4134 | 5 | c.302 others(20): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86115358 | A | ATTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00621.hp2 HG01346.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0007 a0001c0001t0001g0054 a0001c0001t0001g0126 others(30): Show |
34 | 87 | 0.3908 | 5 | c.302 others(22): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86118026 | C | CTTTCT | intron_variant | MODIFIER | HG01981.hp1 HG03579.hp1 NA18979.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0129 a0001c0001t0001g0168 a0001c0001t0001g0231 others(2): Show |
5 | 343 | 0.0146 | 5 | c.302 others(22): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86145374 | G | GAAAGA | intron_variant | MODIFIER | HG01981.hp2 HG02559.hp2 HG02922.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0155 a0001c0001t0002g0174 a0001c0001t0002g0180 others(6): Show |
9 | 90 | 0.1000 | 5 | c.639 others(22): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86149052 | G | GAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00544.hp2 others(33): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0064 others(30): Show |
36 | 91 | 0.3956 | 5 | c.640 others(22): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86153753 | T | TTTTTG | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00673.hp2 others(76): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0011 others(71): Show |
79 | 358 | 0.2207 | 5 | c.*79 others(14): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 8/8 | 800 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V0E1_chr5_172978771_173040445 | 173032238 | C | CTTTTA | intron_variant | MODIFIER | HG02451.hp1 HG02738.hp1 HG02895.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 a0001c0001t0001g0109 a0001c0001t0001g0139 others(7): Show |
10 | 290 | 0.0345 | 5 | c.*37 others(22): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATP6V0E2_chr7_149868969_149885695 | 149877563 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(86): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0009others(6): Show | a0001c0001t0002g0003 a0001c0001t0002g0014 a0001c0001t0002g0020 others(11): Show |
89 | 283 | 0.3145 | 5 | c.153 others(22): Show |
ATP6V0E2 | ENSG00000171130.19 | transcript | ENST00000425642.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70950932 | A | ATTTTT | intron_variant | MODIFIER | HG00408.hp1 HG02717.hp2 HG03471.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003others(2): Show | a0001c0001t0001a0001c0005t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0116 a0001c0001t0001g0135 a0001c0005t0001g0178 others(6): Show |
10 | 177 | 0.0565 | 5 | c.175 others(22): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70964114 | A | ATTTTT | intron_variant | MODIFIER | HG00408.hp1 HG01243.hp1 HG01261.hp2 others(31): Show |
a0001a0002a0003 | a0001c0002a0001c0005a0001c0034others(5): Show | a0001c0002t0001a0001c0005t0001a0001c0034t0001others(5): Show | a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0010 others(24): Show |
34 | 77 | 0.4416 | 5 | c.114 others(22): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70968945 | A | AGTTTT | downstream_gene_variant | MODIFIER | HG02071.hp1 HG02071.hp2 NA20129.hp2 |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0001a0001c0005t0001 | a0001c0001t0001g0116 a0001c0002t0001g0143 a0001c0005t0001g0183 |
3 | 422 | 0.0071 | 5 | c.*38 others(16): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 3515 | chr2 | TogoVar | |||||||
ATP6V1C1_chr8_103016083_103078051 | 103047464 | A | ACACAT | intron_variant | MODIFIER | HG01071.hp1 HG01099.hp2 HG02109.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016 | a0001c0001t0002g0126 a0001c0001t0002g0141 a0001c0001t0002g0142 others(2): Show |
5 | 252 | 0.0198 | 5 | c.201 others(22): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 3/12 | chr8 | TogoVar | |||||||
ATP6V1C2_chr2_10716630_10790110 | 10719622 | T | TTTTGG | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp1 others(131): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0001c0016others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(19): Show | a0001c0001t0001g0112 a0001c0001t0001g0144 a0001c0001t0001g0153 others(130): Show |
134 | 301 | 0.4452 | 5 | c.-21 others(16): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 2007 | chr2 | TogoVar | |||||||
ATP6V1C2_chr2_10716630_10790110 | 10732967 | C | CAAAAA | intron_variant | MODIFIER | HG01496.hp2 HG01884.hp2 HG02622.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0006a0002c0002t0007a0002c0002t0010others(1): Show | a0001c0001t0006g0101 a0001c0001t0006g0102 a0001c0001t0006g0104 others(4): Show |
7 | 163 | 0.0429 | 5 | c.197 others(22): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1C2_chr2_10716630_10790110 | 10788065 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG00733.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0002a0002c0002t0002a0002c0003t0002 | a0001c0001t0002g0175 a0001c0001t0002g0191 a0001c0001t0002g0283 others(17): Show |
20 | 223 | 0.0897 | 5 | c.*48 others(16): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 2956 | chr2 | TogoVar | |||||||
ATP6V1C2_chr2_10716630_10790110 | 10789407 | G | GAAAAC | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(128): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0002a0001c0001t0011a0002c0002t0002others(6): Show | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(126): Show |
131 | 336 | 0.3899 | 5 | c.*61 others(16): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 4298 | chr2 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17596976 | C | CTGTAA | intron_variant | MODIFIER | HG03041.hp2 HG03130.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022 a0001c0001t0003g0200 |
3 | 368 | 0.0082 | 5 | c.530 others(22): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 7/8 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17599577 | C | CAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG00673.hp1 HG00733.hp2 others(67): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0046 a0001c0001t0001g0148 a0001c0001t0001g0190 others(62): Show |
70 | 304 | 0.2303 | 5 | c.435 others(20): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 6/8 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17626325 | A | AAAAAG | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00639.hp2 others(80): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0008others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0026 others(74): Show |
83 | 275 | 0.3018 | 5 | c.33+ others(20): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 1/8 | chr22 | TogoVar | |||||||
ATP6V1E2_chr2_46506847_46547577 | 46518811 | T | TGTGTG | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG00639.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 others(1): Show |
4 | 405 | 0.0099 | 5 | c.-10 others(24): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 4/4 | chr2 | TogoVar | |||||||
ATP6V1E2_chr2_46506847_46547577 | 46525461 | C | CAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00738.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0026 others(26): Show |
35 | 376 | 0.0931 | 5 | c.-10 others(26): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 4/4 | chr2 | TogoVar | |||||||
ATP6V1FNB_chr7_128861330_128877047 | 128861347 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00280.hp1 HG02257.hp2 HG02258.hp1 others(5): Show |
a0001a0004a0008 | a0001c0001a0004c0005a0008c0009 | a0001c0001t0004a0001c0001t0007a0001c0001t0017others(2): Show | a0001c0001t0004g0004 a0001c0001t0007g0005 a0001c0001t0017g0004 others(2): Show |
8 | 287 | 0.0279 | 5 | c.-50 others(16): Show |
ATP6V1FNB | ENSG00000272899.4 | transcript | ENST00000609480.4 | protein_coding | 4982 | chr7 | TogoVar | |||||||
ATP6V1FNB_chr7_128861330_128877047 | 128861823 | A | ATTTTT | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02056.hp1 HG02129.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006 | a0001c0001t0002g0006 a0001c0001t0005g0009 a0001c0001t0005g0014 others(1): Show |
12 | 173 | 0.0694 | 5 | c.-45 others(16): Show |
ATP6V1FNB | ENSG00000272899.4 | transcript | ENST00000609480.4 | protein_coding | 4506 | chr7 | TogoVar | |||||||
ATP6V1F_chr7_128857856_128870847 | 128861347 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00280.hp1 HG02257.hp2 HG02258.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0017 a0001c0001t0002g0005 a0001c0001t0002g0008 others(1): Show |
10 | 292 | 0.0342 | 5 | c.-15 others(16): Show |
ATP6V1F | ENSG00000128524.5 | transcript | ENST00000249289.5 | protein_coding | 1508 | chr7 | TogoVar | |||||||
ATP6V1F_chr7_128857856_128870847 | 128861823 | A | ATTTTT | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02056.hp1 HG02129.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0009 a0001c0002t0001g0006 a0001c0002t0001g0038 |
13 | 169 | 0.0769 | 5 | c.-10 others(16): Show |
ATP6V1F | ENSG00000128524.5 | transcript | ENST00000249289.5 | protein_coding | 1032 | chr7 | TogoVar | |||||||
ATP6V1G1_chr9_114582769_114603879 | 114596986 | C | CTTTTT | intron_variant | MODIFIER | HG00609.hp2 HG00673.hp1 NA18961.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0035 a0001c0001t0006g0059 a0001c0001t0006g0060 others(3): Show |
7 | 241 | 0.0290 | 5 | c.184 others(20): Show |
ATP6V1G1 | ENSG00000136888.8 | transcript | ENST00000374050.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ATP6V1G1_chr9_114582769_114603879 | 114598990 | G | GTTTTT | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG00642.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 others(16): Show |
29 | 109 | 0.2661 | 5 | c.*12 others(16): Show |
ATP6V1G1 | ENSG00000136888.8 | transcript | ENST00000374050.4 | protein_coding | 112 | chr9 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53765454 | A | AACAAC | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp1 HG01071.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0260 a0001c0001t0003g0004 a0001c0001t0003g0005 others(2): Show |
5 | 128 | 0.0391 | 5 | c.117 others(24): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | TogoVar | |||||||
ATP7A_chrX_77905693_78055395 | 77956726 | C | CTCTTT | intron_variant | MODIFIER | HG00558.hp2 HG02015.hp1 HG02615.hp1 others(4): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0005a0001c0001t0010a0001c0011t0005 | a0001c0001t0005g0126 a0001c0001t0005g0127 a0001c0001t0005g0129 others(4): Show |
7 | 51 | 0.1373 | 5 | c.-21 others(24): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | TogoVar |