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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP5MC2_chr12_53660170_53681083 | 53667956 | CAT | C | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00673.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0021a0001c0001t0001g0022others(7): Show | 27 | 418 | 0.0646 | -2 | c.311 others(19): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | ||||||
ATP5MC2_chr12_53660170_53681083 | 53673819 | CAA | C | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG01169.hp1 others(15): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0016a0001c0001t0001g0049a0001c0001t0001g0050others(10): Show | 18 | 418 | 0.0431 | -2 | c.-31 others(19): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
ATP5MC2_chr12_53660170_53681083 | 53679238 | CGA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(36): Show | 47 | 418 | 0.1124 | -2 | c.-32 others(13): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 3156 | chr12 | TogoVar | ||||||
ATP5ME_chr4_667436_679276 | 667488 | CGT | C | downstream_gene_variant | MODIFIER | NA18941.hp2 NA18952.hp2 NA18975.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 394 | 0.0076 | -2 | c.*50 others(13): Show |
ATP5ME | ENSG00000169020.10 | transcript | ENST00000304312.5 | protein_coding | 4947 | chr4 | TogoVar | ||||||
ATP5ME_chr4_667436_679276 | 672596 | ATT | A | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00735.hp1 others(64): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(5): Show | 67 | 394 | 0.1701 | -2 | c.191 others(15): Show |
ATP5ME | ENSG00000169020.10 | transcript | ENST00000304312.5 | protein_coding | 3/3 | chr4 | TogoVar | ||||||
ATP5MF_chr7_99453195_99471167 | 99455048 | CTT | C | downstream_gene_variant | MODIFIER | HG02572.hp2 HG02630.hp1 HG02886.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014a0001c0001t0002g0034a0001c0001t0002g0035 | 5 | 346 | 0.0145 | -2 | c.*32 others(13): Show |
ATP5MF | ENSG00000241468.8 | transcript | ENST00000292475.8 | protein_coding | 3146 | chr7 | TogoVar | ||||||
ATP5MF_chr7_99453195_99471167 | 99466717 | CTT | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00544.hp1 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(18): Show | 57 | 346 | 0.1647 | -2 | c.-57 others(11): Show |
ATP5MF | ENSG00000241468.8 | transcript | ENST00000292475.8 | protein_coding | 551 | chr7 | TogoVar | ||||||
ATP5MGL_chr22_42634803_42645601 | 42638728 | TAA | T | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG00673.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0014a0001c0002t0024 | a0001c0002t0001g0000a0001c0002t0014g0000a0001c0002t0024g0000 | 11 | 374 | 0.0294 | -2 | c.*12 others(13): Show |
ATP5MGL | ENSG00000249222.1 | transcript | ENST00000505920.1 | protein_coding | 1074 | chr22 | TogoVar | ||||||
ATP5MGL_chr22_42634803_42645601 | 42639843 | CTT | C | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp2 others(244): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(12): Show | a0001c0001t0002g0000a0001c0001t0005g0000a0001c0001t0006g0000others(12): Show | 247 | 374 | 0.6604 | -2 | c.*12 others(11): Show |
ATP5MGL | ENSG00000249222.1 | transcript | ENST00000505920.1 | protein_coding | 1/1 | 127 | chr22 | TogoVar | |||||
ATP5MGL_chr22_42634803_42645601 | 42642146 | CTA | C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00597.hp1 others(109): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0008a0001c0002t0015others(1): Show | a0001c0002t0001g0000a0001c0002t0008g0000a0001c0002t0015g0000others(1): Show | 112 | 374 | 0.2995 | -2 | c.-18 others(13): Show |
ATP5MGL | ENSG00000249222.1 | transcript | ENST00000505920.1 | protein_coding | 1546 | chr22 | TogoVar | ||||||
ATP5MG_chr11_118396606_118414847 | 118403790 | TAA | T | intron_variant | MODIFIER | HG02109.hp2 HG02486.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0033 | 6 | 336 | 0.0179 | -2 | c.52+ others(17): Show |
ATP5MG | ENSG00000167283.9 | transcript | ENST00000300688.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATP5MG_chr11_118396606_118414847 | 118410633 | CTT | C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(96): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0009others(17): Show | 99 | 336 | 0.2946 | -2 | c.*15 others(13): Show |
ATP5MG | ENSG00000167283.9 | transcript | ENST00000300688.8 | protein_coding | 787 | chr11 | TogoVar | ||||||
ATP5MJ_chr14_103907288_103926529 | 103919383 | TAA | T | intron_variant | MODIFIER | HG00735.hp1 HG01074.hp1 HG01099.hp1 others(32): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0064a0002c0002t0001g0008a0002c0002t0001g0013others(12): Show | 35 | 440 | 0.0796 | -2 | c.-1+ others(17): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 1/3 | chr14 | TogoVar | ||||||
ATP5MJ_chr14_103907288_103926529 | 103922328 | AAT | A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(180): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0017others(84): Show | 183 | 440 | 0.4159 | -2 | c.-86 others(11): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 800 | chr14 | TogoVar | ||||||
ATP5MJ_chr14_103907288_103926529 | 103922347 | ATT | A | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02970.hp1 HG03540.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0021a0002c0002t0001g0051a0002c0002t0001g0063others(1): Show | 6 | 440 | 0.0136 | -2 | c.-88 others(11): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 819 | chr14 | TogoVar | ||||||
ATP5MJ_chr14_103907288_103926529 | 103924453 | TCA | T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00544.hp2 others(115): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006others(56): Show | 118 | 440 | 0.2682 | -2 | c.-29 others(13): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 2925 | chr14 | TogoVar | ||||||
ATP5MK_chr10_103384050_103401475 | 103385925 | CAA | C | downstream_gene_variant | MODIFIER | HG00639.hp2 HG02738.hp2 HG03654.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0007a0001c0001t0002g0019others(3): Show | 10 | 438 | 0.0228 | -2 | c.*32 others(13): Show |
ATP5MK | ENSG00000173915.16 | transcript | ENST00000369815.6 | protein_coding | 3124 | chr10 | TogoVar | ||||||
ATP5MK_chr10_103384050_103401475 | 103392467 | CTT | C | splice_acceptor_variant others(2): Show |
HIGH | HG01243.hp1 HG01243.hp2 HG02145.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0017a0001c0001t0001g0047 | 11 | 438 | 0.0251 | -2 | c.-9- others(11): Show |
ATP5MK | ENSG00000173915.16 | transcript | ENST00000369815.6 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
ATP5MK_chr10_103384050_103401475 | 103397211 | CTT | C | upstream_gene_variant | MODIFIER | HG01071.hp1 HG02273.hp2 HG02735.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0007a0001c0001t0002g0034others(2): Show | 10 | 438 | 0.0228 | -2 | c.-11 others(13): Show |
ATP5MK | ENSG00000173915.16 | transcript | ENST00000369815.6 | protein_coding | 737 | chr10 | TogoVar | ||||||
ATP5PB_chr1_111444464_111467773 | 111454463 | TTG | T | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02622.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0017 | a0001c0001t0005g0012a0001c0001t0005g0043a0001c0001t0005g0114others(2): Show | 10 | 434 | 0.0230 | -2 | c.223 others(17): Show |
ATP5PB | ENSG00000116459.11 | transcript | ENST00000369722.8 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP5PB_chr1_111444464_111467773 | 111457312 | AAC | A | intron_variant | MODIFIER | HG02818.hp1 HG03669.hp2 NA18977.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0026 | a0001c0001t0001g0085a0001c0001t0003g0078a0001c0001t0026g0082 | 3 | 434 | 0.0069 | -2 | c.513 others(17): Show |
ATP5PB | ENSG00000116459.11 | transcript | ENST00000369722.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP5PB_chr1_111444464_111467773 | 111460006 | AAT | A | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030 | 3 | 434 | 0.0069 | -2 | c.693 others(17): Show |
ATP5PB | ENSG00000116459.11 | transcript | ENST00000369722.8 | protein_coding | 6/6 | chr1 | TogoVar | ||||||
ATP5PB_chr1_111444464_111467773 | 111465769 | AGT | A | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02622.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0017 | a0001c0001t0005g0012a0001c0001t0005g0043a0001c0001t0005g0114others(2): Show | 10 | 434 | 0.0230 | -2 | c.*47 others(13): Show |
ATP5PB | ENSG00000116459.11 | transcript | ENST00000369722.8 | protein_coding | 2997 | chr1 | TogoVar | ||||||
ATP5PD_chr17_75033863_75051969 | 75044665 | CAT | C | intron_variant | MODIFIER | HG00741.hp1 HG01099.hp1 HG01943.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 4 | 428 | 0.0094 | -2 | c.-9- others(17): Show |
ATP5PD | ENSG00000167863.12 | transcript | ENST00000301587.9 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
ATP5PD_chr17_75033863_75051969 | 75051277 | CTT | C | upstream_gene_variant | MODIFIER | HG00597.hp2 HG01109.hp2 HG02080.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0002g0002a0001c0001t0002g0009others(5): Show | 18 | 428 | 0.0421 | -2 | c.-43 others(13): Show |
ATP5PD | ENSG00000167863.12 | transcript | ENST00000301587.9 | protein_coding | 4309 | chr17 | TogoVar | ||||||
ATP5PF_chr21_25719500_25739904 | 25732985 | CAA | C | intron_variant | MODIFIER | HG02486.hp2 HG02818.hp1 HG03209.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053a0001c0001t0001g0059a0001c0001t0001g0085others(3): Show | 8 | 416 | 0.0192 | -2 | c.-8+ others(17): Show |
ATP5PF | ENSG00000154723.13 | transcript | ENST00000284971.8 | protein_coding | 1/3 | chr21 | TogoVar | ||||||
ATP5PO_chr21_33898453_33920804 | 33908169 | CAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00558.hp1 others(78): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0010others(15): Show | 81 | 436 | 0.1858 | -2 | c.329 others(17): Show |
ATP5PO | ENSG00000241837.7 | transcript | ENST00000290299.7 | protein_coding | 4/6 | chr21 | TogoVar | ||||||
ATP5PO_chr21_33898453_33920804 | 33909679 | CTG | C | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00609.hp2 others(68): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0028others(14): Show | 71 | 436 | 0.1628 | -2 | c.199 others(17): Show |
ATP5PO | ENSG00000241837.7 | transcript | ENST00000290299.7 | protein_coding | 3/6 | chr21 | TogoVar | ||||||
ATP5PO_chr21_33898453_33920804 | 33911662 | GTT | G | intron_variant | MODIFIER | HG00558.hp1 HG01175.hp2 HG01257.hp1 others(22): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0005c0008t0001 | a0001c0001t0001g0010a0001c0001t0001g0018a0001c0001t0001g0022others(6): Show | 25 | 436 | 0.0573 | -2 | c.198 others(17): Show |
ATP5PO | ENSG00000241837.7 | transcript | ENST00000290299.7 | protein_coding | 3/6 | chr21 | TogoVar | ||||||
ATP5PO_chr21_33898453_33920804 | 33919819 | GTT | G | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00735.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0009others(13): Show | 39 | 436 | 0.0895 | -2 | c.-40 others(13): Show |
ATP5PO | ENSG00000241837.7 | transcript | ENST00000290299.7 | protein_coding | 4016 | chr21 | TogoVar | ||||||
ATP6AP1_chrX_154423677_154441516 | 154424691 | TTG | T | upstream_gene_variant | MODIFIER | NA19075.hp1 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0023 | 1 | 302 | 0.0033 | -2 | c.-40 others(13): Show |
ATP6AP1 | ENSG00000071553.18 | transcript | ENST00000369762.7 | protein_coding | 3985 | chrX | TogoVar | ||||||
ATP6AP1_chrX_154423677_154441516 | 154425100 | CAA | C | upstream_gene_variant | MODIFIER | NA19075.hp1 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0023 | 1 | 302 | 0.0033 | -2 | c.-35 others(13): Show |
ATP6AP1 | ENSG00000071553.18 | transcript | ENST00000369762.7 | protein_coding | 3576 | chrX | TogoVar | ||||||
ATP6AP1_chrX_154423677_154441516 | 154438738 | GTC | G | downstream_gene_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 302 | 0.0033 | -2 | c.*28 others(13): Show |
ATP6AP1 | ENSG00000071553.18 | transcript | ENST00000369762.7 | protein_coding | 2223 | chrX | TogoVar | ||||||
ATP6AP1_chrX_154423677_154441516 | 154439250 | TTC | T | downstream_gene_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 302 | 0.0033 | -2 | c.*33 others(13): Show |
ATP6AP1 | ENSG00000071553.18 | transcript | ENST00000369762.7 | protein_coding | 2735 | chrX | TogoVar | ||||||
ATP6AP1_chrX_154423677_154441516 | 154441415 | TGG | T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00735.hp1 others(34): Show |
a0000a0001a0006 | a0000c0007a0001c0002a0006c0006 | a0000c0007t0003a0001c0002t0003a0001c0002t0005others(1): Show | a0000c0007t0003g0006a0001c0002t0003g0005a0001c0002t0003g0006others(8): Show | 37 | 302 | 0.1225 | -2 | c.*55 others(13): Show |
ATP6AP1 | ENSG00000071553.18 | transcript | ENST00000369762.7 | protein_coding | 4900 | chrX | TogoVar | ||||||
ATP6AP2_chrX_40575970_40611848 | 40576078 | ATT | A | upstream_gene_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 299 | 0.0033 | -2 | c.-49 others(13): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 4891 | chrX | TogoVar | ||||||
ATP6AP2_chrX_40575970_40611848 | 40576955 | GTT | G | upstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 299 | 0.0033 | -2 | c.-41 others(13): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 4014 | chrX | TogoVar | ||||||
ATP6AP2_chrX_40575970_40611848 | 40584364 | CTT | C | intron_variant | MODIFIER | NA18949.hp2 NA18982.hp1 NA18997.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025a0001c0001t0001g0084a0001c0001t0001g0085 | 4 | 299 | 0.0134 | -2 | c.37+ others(17): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP6AP2_chrX_40575970_40611848 | 40588334 | GCC | G | intron_variant | MODIFIER | HG00733.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083a0001c0001t0001g0188 | 2 | 299 | 0.0067 | -2 | c.38- others(15): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP6AP2_chrX_40575970_40611848 | 40603355 | CAA | C | intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 299 | 0.0033 | -2 | c.859 others(19): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP6AP2_chrX_40575970_40611848 | 40604931 | ATT | A | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 299 | 0.0033 | -2 | c.859 others(17): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP6AP2_chrX_40575970_40611848 | 40608195 | CTT | C | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00639.hp1 others(64): Show |
a0001a0003a0005others(1): Show | a0001c0002a0001c0003a0001c0006others(3): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0007others(6): Show | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0015others(48): Show | 67 | 299 | 0.2241 | -2 | c.*24 others(13): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 1348 | chrX | TogoVar | ||||||
ATP6AP2_chrX_40575970_40611848 | 40608828 | GAC | G | downstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 299 | 0.0033 | -2 | c.*30 others(13): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 1981 | chrX | TogoVar | ||||||
ATP6V0A1_chr17_42453878_42527579 | 42489005 | ACT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(225): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(194): Show | 228 | 320 | 0.7125 | -2 | c.102 others(21): Show |
ATP6V0A1 | ENSG00000033627.18 | transcript | ENST00000343619.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ATP6V0A1_chr17_42453878_42527579 | 42489604 | GAA | G | intron_variant | MODIFIER | HG02809.hp2 HG02818.hp1 HG06807.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0017a0001c0001t0007g0089a0001c0001t0007g0090others(1): Show | 5 | 320 | 0.0156 | -2 | c.102 others(19): Show |
ATP6V0A1 | ENSG00000033627.18 | transcript | ENST00000343619.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ATP6V0A1_chr17_42453878_42527579 | 42515468 | CAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00642.hp2 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013 | a0001c0001t0002g0007a0001c0001t0002g0019a0001c0001t0002g0020others(42): Show | 50 | 320 | 0.1563 | -2 | c.242 others(21): Show |
ATP6V0A1 | ENSG00000033627.18 | transcript | ENST00000343619.9 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ATP6V0A2_chr12_123707353_123766755 | 123708979 | ATT | A | upstream_gene_variant | MODIFIER | HG02647.hp1 HG02717.hp1 HG02809.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0004a0001c0003t0001a0002c0004t0006 | a0001c0001t0004g0138a0001c0003t0001g0187a0001c0003t0001g0189others(2): Show | 7 | 222 | 0.0315 | -2 | c.-35 others(13): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 3373 | chr12 | TogoVar | ||||||
ATP6V0A2_chr12_123707353_123766755 | 123716788 | CAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(51): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0014a0001c0002t0002a0001c0002t0015others(9): Show | a0001c0001t0014g0016a0001c0002t0002g0004a0001c0002t0002g0013others(44): Show | 54 | 222 | 0.2432 | -2 | c.118 others(19): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP6V0A2_chr12_123707353_123766755 | 123717314 | CAA | C | intron_variant | MODIFIER | HG01346.hp1 HG01884.hp2 HG01975.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(3): Show | a0001c0001t0001g0057a0001c0001t0001g0058a0001c0001t0003g0007others(11): Show | 17 | 222 | 0.0766 | -2 | c.118 others(19): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP6V0A2_chr12_123707353_123766755 | 123717446 | CTT | C | intron_variant | MODIFIER | HG01346.hp1 HG01975.hp1 HG01978.hp2 others(4): Show |
a0002 | a0002c0004 | a0002c0004t0006 | a0002c0004t0006g0005a0002c0004t0006g0017a0002c0004t0006g0186others(1): Show | 7 | 222 | 0.0315 | -2 | c.118 others(19): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |