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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP6V0A1_chr17_42453878_42527579 | 42500074 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00642.hp2 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013 | a0001c0001t0002g0006a0001c0001t0002g0007a0001c0001t0002g0019others(51): Show | 61 | 320 | 0.1906 | -6 | c.168 others(23): Show |
ATP6V0A1 | ENSG00000033627.18 | transcript | ENST00000343619.9 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ATP6V0A2_chr12_123707353_123766755 | 123720976 | CTTTTCT | C | intron_variant | MODIFIER | HG02630.hp1 HG02647.hp1 HG02886.hp2 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0006 | a0002c0004t0006g0005a0002c0004t0006g0186 | 4 | 222 | 0.0180 | -6 | c.197 others(23): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP6V0A4_chr7_138701294_138803196 | 138707310 | TTATTTA | T | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp2 HG02486.hp1 others(3): Show |
a0001a0007 | a0001c0005a0001c0008a0001c0010others(1): Show | a0001c0005t0002a0001c0008t0002a0001c0010t0002others(1): Show | a0001c0005t0002g0043a0001c0008t0002g0100a0001c0010t0002g0035others(3): Show | 6 | 376 | 0.0160 | -6 | c.243 others(23): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 21/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138717908 | GGAAAAA | G | intron_variant | MODIFIER | HG02896.hp1 HG03453.hp1 HG03579.hp2 others(3): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0005t0005a0002c0002t0001others(1): Show | a0001c0001t0001g0027a0001c0001t0001g0159a0001c0001t0001g0304others(3): Show | 6 | 376 | 0.0160 | -6 | c.214 others(25): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 19/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138718277 | GCGGTGT | G | intron_variant | MODIFIER | HG00438.hp2 HG01257.hp2 HG02074.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0002c0046others(1): Show | a0001c0001t0001a0001c0007t0001a0002c0046t0001others(1): Show | a0001c0001t0001g0071a0001c0007t0001g0055a0002c0046t0001g0367others(2): Show | 5 | 376 | 0.0133 | -6 | c.214 others(25): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 19/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138718279 | GGTGTGT | G | intron_variant | MODIFIER | HG02027.hp2 HG02486.hp1 HG02896.hp2 others(3): Show |
a0001 | a0001c0001a0001c0010a0001c0021 | a0001c0001t0001a0001c0010t0002a0001c0021t0001 | a0001c0001t0001g0064a0001c0001t0001g0272a0001c0010t0002g0197others(3): Show | 6 | 376 | 0.0160 | -6 | c.214 others(25): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 19/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138730341 | AGTGTGT | A | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG01081.hp2 others(44): Show |
a0001a0002a0012 | a0001c0001a0001c0005a0001c0007others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0047a0001c0001t0001g0058a0001c0001t0001g0064others(44): Show | 47 | 376 | 0.1250 | -6 | c.190 others(25): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 17/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138733572 | CTTTTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG01081.hp2 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0008a0002c0016a0003c0004others(3): Show | a0001c0008t0001a0002c0016t0001a0003c0004t0001others(4): Show | a0001c0008t0001g0007a0001c0008t0001g0118a0001c0008t0001g0155others(26): Show | 29 | 376 | 0.0771 | -6 | c.169 others(23): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 16/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138758739 | ATTTTTT | A | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00597.hp1 others(39): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0008others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(12): Show | a0001c0001t0001g0024a0001c0001t0001g0041a0001c0001t0001g0052others(39): Show | 42 | 376 | 0.1117 | -6 | c.639 others(23): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 8/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138771898 | GGCATGA | G | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00544.hp1 others(66): Show |
a0001a0003a0011 | a0001c0001a0001c0005a0001c0007others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0010a0001c0001t0001g0024a0001c0001t0001g0027others(66): Show | 69 | 376 | 0.1835 | -6 | c.-17 others(21): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 2/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138781831 | GTCTCTC | G | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG01074.hp1 others(42): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0007a0001c0008others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(24): Show | a0001c0001t0001g0010a0001c0001t0001g0020a0001c0001t0001g0024others(42): Show | 45 | 376 | 0.1197 | -6 | c.-18 others(23): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 2/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138784281 | CATATAT | C | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG01074.hp1 others(30): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0007a0001c0008others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(15): Show | a0001c0001t0001g0010a0001c0001t0001g0020a0001c0001t0001g0024others(30): Show | 33 | 376 | 0.0878 | -6 | c.-18 others(23): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 2/21 | chr7 | TogoVar | ||||||
ATP6V0C_chr16_2508952_2525218 | 2517713 | TTGTGTG | T | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG00735.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0007a0001c0001t0001g0064a0001c0001t0001g0077others(1): Show | 13 | 336 | 0.0387 | -6 | c.80- others(21): Show |
ATP6V0C | ENSG00000185883.12 | transcript | ENST00000330398.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP6V0C_chr16_2508952_2525218 | 2517749 | GTGTGTC | G | intron_variant | MODIFIER | HG02280.hp1 HG02486.hp1 HG02647.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008a0001c0001t0003g0035 | 10 | 336 | 0.0298 | -6 | c.80- others(21): Show |
ATP6V0C | ENSG00000185883.12 | transcript | ENST00000330398.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP6V0D1_chr16_67433019_67486157 | 67433687 | TACACAC | T | downstream_gene_variant | MODIFIER | NA19011.hp1 NA19078.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0094 | 2 | 174 | 0.0115 | -6 | c.*48 others(17): Show |
ATP6V0D1 | ENSG00000159720.13 | transcript | ENST00000290949.8 | protein_coding | 4331 | chr16 | TogoVar | ||||||
ATP6V0D1_chr16_67433019_67486157 | 67433723 | CACACAT | C | downstream_gene_variant | MODIFIER | HG00438.hp1 HG01109.hp1 HG01884.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0002g0047others(18): Show | 26 | 174 | 0.1494 | -6 | c.*47 others(17): Show |
ATP6V0D1 | ENSG00000159720.13 | transcript | ENST00000290949.8 | protein_coding | 4295 | chr16 | TogoVar | ||||||
ATP6V0D1_chr16_67433019_67486157 | 67466326 | TACACAC | T | intron_variant | MODIFIER | HG01884.hp2 HG02004.hp2 HG02055.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0081a0001c0001t0002g0002a0001c0001t0002g0147others(8): Show | 16 | 174 | 0.0920 | -6 | c.131 others(25): Show |
ATP6V0D1 | ENSG00000159720.13 | transcript | ENST00000290949.8 | protein_coding | 1/7 | chr16 | TogoVar | ||||||
ATP6V0D1_chr16_67433019_67486157 | 67466372 | CACACAA | C | intron_variant | MODIFIER | HG02895.hp1 HG03491.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051a0001c0001t0001g0113 | 2 | 174 | 0.0115 | -6 | c.131 others(25): Show |
ATP6V0D1 | ENSG00000159720.13 | transcript | ENST00000290949.8 | protein_coding | 1/7 | chr16 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86115358 | ATTTTTT | A | intron_variant | MODIFIER | HG01943.hp2 HG02280.hp1 HG02602.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0026a0001c0001t0001g0053others(7): Show | 10 | 360 | 0.0278 | -6 | c.302 others(23): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V0D2_chr8_86093910_86159225 | 86118016 | TTCTTTC | T | intron_variant | MODIFIER | HG01069.hp2 HG01167.hp2 HG01884.hp1 others(34): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0011a0001c0001t0001g0116a0001c0001t0001g0128others(34): Show | 37 | 360 | 0.1028 | -6 | c.302 others(23): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V0D2_chr8_86093910_86159225 | 86121578 | AAGGAGG | A | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0011a0001c0001t0001g0163a0001c0001t0001g0318others(23): Show | 26 | 360 | 0.0722 | -6 | c.302 others(23): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V0D2_chr8_86093910_86159225 | 86145352 | AGGAAGG | A | intron_variant | MODIFIER | HG01346.hp1 HG01943.hp2 HG02074.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0004t0001 | a0001c0001t0001g0029a0001c0001t0001g0082a0001c0001t0001g0122others(4): Show | 7 | 360 | 0.0194 | -6 | c.639 others(23): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | chr8 | TogoVar | ||||||
ATP6V0E1_chr5_172978771_173040445 | 172980845 | TACACAC | T | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01891.hp2 HG02145.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0270others(12): Show | 16 | 292 | 0.0548 | -6 | c.-30 others(17): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 2925 | chr5 | TogoVar | ||||||
ATP6V0E1_chr5_172978771_173040445 | 173024197 | CAAAAAA | C | intron_variant | MODIFIER | HG01243.hp1 HG01943.hp1 HG02258.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0240a0001c0001t0003g0241a0001c0001t0003g0242others(4): Show | 7 | 292 | 0.0240 | -6 | c.*36 others(23): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATP6V0E1_chr5_172978771_173040445 | 173025504 | CTTTTTT | C | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02280.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0018a0001c0001t0001g0019others(7): Show | 11 | 292 | 0.0377 | -6 | c.*36 others(23): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATP6V1A_chr3_113742035_113817056 | 113747010 | GCCCCCC | G | upstream_gene_variant | MODIFIER | HG00423.hp2 HG01069.hp2 HG01175.hp1 others(62): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0036a0001c0001t0001g0109a0001c0001t0001g0110others(59): Show | 65 | 312 | 0.2083 | -6 | c.-11 others(15): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 24 | chr3 | TogoVar | ||||||
ATP6V1A_chr3_113742035_113817056 | 113749263 | TCACACA | T | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01071.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0277a0001c0001t0001g0278a0001c0001t0002g0009others(20): Show | 25 | 312 | 0.0801 | -6 | c.-14 others(23): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP6V1A_chr3_113742035_113817056 | 113802148 | CAGACAT | C | intron_variant | MODIFIER | HG01106.hp1 HG02818.hp1 HG02895.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0021a0001c0001t0004g0022a0001c0001t0004g0023others(3): Show | 6 | 312 | 0.0192 | -6 | c.149 others(25): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP6V1B1_chr2_70930900_70970431 | 70934114 | CACACAT | C | upstream_gene_variant | MODIFIER | HG01433.hp1 NA18951.hp2 NA19030.hp2 others(2): Show |
a0002 | a0002c0008a0002c0010a0002c0011 | a0002c0008t0002a0002c0010t0002a0002c0011t0007 | a0002c0008t0002g0278a0002c0010t0002g0322a0002c0010t0002g0356others(2): Show | 5 | 440 | 0.0114 | -6 | c.-18 others(17): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1785 | chr2 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70940895 | TTTTTTC | T | intron_variant | MODIFIER | HG01243.hp2 HG01433.hp2 HG02486.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0002c0006t0001 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0093others(3): Show | 6 | 440 | 0.0136 | -6 | c.119 others(23): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1B1_chr2_70930900_70970431 | 70945701 | GATATAT | G | intron_variant | MODIFIER | HG01255.hp1 HG02280.hp1 HG02451.hp2 others(4): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(3): Show | a0001c0001t0001g0026a0001c0001t0001g0037a0001c0002t0001g0163others(4): Show | 7 | 440 | 0.0159 | -6 | c.174 others(23): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1B1_chr2_70930900_70970431 | 70957592 | GCCCAGT | G | intron_variant | MODIFIER | HG01123.hp2 HG02145.hp2 HG02647.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0013a0001c0001t0001g0142a0001c0001t0001g0182others(1): Show | 5 | 440 | 0.0114 | -6 | c.175 others(21): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1C1_chr8_103016083_103078051 | 103059892 | ACACACC | A | intron_variant | MODIFIER | HG01243.hp1 HG02109.hp1 HG02280.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0012a0001c0001t0016others(1): Show | a0001c0001t0008g0191a0001c0001t0008g0231a0001c0001t0008g0234others(4): Show | 7 | 412 | 0.0170 | -6 | c.642 others(23): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V1C1_chr8_103016083_103078051 | 103066192 | TGTAAAG | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(76): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0026a0001c0001t0027others(1): Show | a0001c0001t0002g0003a0001c0001t0002g0008a0001c0001t0002g0014others(53): Show | 79 | 412 | 0.1918 | -6 | c.927 others(21): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V1C2_chr2_10716630_10790110 | 10764002 | ATAGCAT | A | intron_variant | MODIFIER | NA18983.hp2 NA18986.hp1 NA19002.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0320a0002c0002t0001g0005a0002c0002t0002g0171 | 3 | 354 | 0.0085 | -6 | c.284 others(21): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 4/13 | chr2 | TogoVar | ||||||
ATP6V1E1_chr22_17587136_17633749 | 17629818 | TACACAC | T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00733.hp1 others(23): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0011others(15): Show | 26 | 370 | 0.0703 | -6 | c.-11 others(17): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 1070 | chr22 | TogoVar | ||||||
ATP6V1E1_chr22_17587136_17633749 | 17631658 | ATGTGTG | A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00733.hp1 others(42): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0011others(32): Show | 45 | 370 | 0.1216 | -6 | c.-30 others(17): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2910 | chr22 | TogoVar | ||||||
ATP6V1E2_chr2_46506847_46547577 | 46518490 | AACACAC | A | intron_variant | MODIFIER | HG00609.hp2 HG00741.hp1 HG02258.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0239a0001c0001t0002g0036a0001c0001t0002g0208others(6): Show | 10 | 410 | 0.0244 | -6 | c.-10 others(25): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 4/4 | chr2 | TogoVar | ||||||
ATP6V1E2_chr2_46506847_46547577 | 46518758 | TTGTGTG | T | intron_variant | MODIFIER | HG01071.hp1 HG01123.hp2 HG02132.hp1 others(6): Show |
a0001a0002a0006 | a0001c0001a0002c0003a0006c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0194a0001c0001t0002g0285a0001c0001t0004g0103others(6): Show | 9 | 410 | 0.0220 | -6 | c.-10 others(25): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 4/4 | chr2 | TogoVar | ||||||
ATP6V1E2_chr2_46506847_46547577 | 46525471 | AAAAAAG | A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG02280.hp1 others(8): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0003a0001c0008t0002 | a0001c0001t0001g0286a0001c0001t0001g0293a0001c0001t0001g0294others(8): Show | 11 | 410 | 0.0268 | -6 | c.-10 others(27): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 4/4 | chr2 | TogoVar | ||||||
ATP6V1E2_chr2_46506847_46547577 | 46546474 | GTGTATA | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0007 | a0001c0001t0003g0202a0001c0001t0004g0009a0001c0001t0007g0196 | 3 | 410 | 0.0073 | -6 | c.-46 others(17): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 3898 | chr2 | TogoVar | ||||||
ATP6V1FNB_chr7_128861330_128877047 | 128861853 | TGAGACA | T | upstream_gene_variant | MODIFIER | HG02735.hp1 HG04184.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 442 | 0.0068 | -6 | c.-45 others(17): Show |
ATP6V1FNB | ENSG00000272899.4 | transcript | ENST00000609480.4 | protein_coding | 4476 | chr7 | TogoVar | ||||||
ATP6V1F_chr7_128857856_128870847 | 128858576 | TACACAC | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00544.hp1 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0022others(5): Show | 47 | 442 | 0.1063 | -6 | c.-43 others(17): Show |
ATP6V1F | ENSG00000128524.5 | transcript | ENST00000249289.5 | protein_coding | 4279 | chr7 | TogoVar | ||||||
ATP6V1F_chr7_128857856_128870847 | 128861853 | TGAGACA | T | upstream_gene_variant | MODIFIER | HG02735.hp2 HG04184.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 442 | 0.0068 | -6 | c.-10 others(17): Show |
ATP6V1F | ENSG00000128524.5 | transcript | ENST00000249289.5 | protein_coding | 1002 | chr7 | TogoVar | ||||||
ATP6V1G1_chr9_114582769_114603879 | 114588510 | AGTGTGT | A | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00558.hp1 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0003g0002a0001c0001t0003g0044a0001c0001t0003g0045others(21): Show | 47 | 420 | 0.1119 | -6 | c.82+ others(19): Show |
ATP6V1G1 | ENSG00000136888.8 | transcript | ENST00000374050.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ATP6V1G2_chr6_31539444_31551608 | 31544640 | TAAAGAC | T | 3_prime_UTR_variant | MODIFIER | HG03239.hp2 HG03669.hp1 HG03688.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0011a0001c0001t0006g0019 | 5 | 435 | 0.0115 | -6 | c.*76 others(15): Show |
ATP6V1G2 | ENSG00000213760.11 | transcript | ENST00000303892.10 | protein_coding | 3/3 | 762 | chr6 | TogoVar | |||||
ATP6V1G3_chr1_198518222_198545680 | 198529195 | AATATAT | A | intron_variant | MODIFIER | HG01081.hp2 HG01167.hp2 HG01169.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041a0001c0001t0002g0042a0001c0001t0002g0084others(2): Show | 7 | 405 | 0.0173 | -6 | c.83- others(17): Show |
ATP6V1G3 | ENSG00000151418.12 | transcript | ENST00000367382.6 | protein_coding | 1/2 | chr1 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53726064 | AAACATT | A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(85): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0005a0002c0004t0002 | a0001c0001t0002g0005a0001c0001t0002g0011a0001c0001t0002g0086others(85): Show | 88 | 286 | 0.3077 | -6 | c.139 others(27): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 13/13 | chr8 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53755685 | CATATAT | C | intron_variant | MODIFIER | HG00280.hp1 HG00673.hp2 HG01109.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0019a0001c0001t0001g0035a0001c0001t0001g0187others(12): Show | 15 | 286 | 0.0525 | -6 | c.127 others(23): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53765454 | AACACAC | A | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG01074.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0020a0001c0001t0001g0025a0001c0001t0001g0043others(26): Show | 29 | 286 | 0.1014 | -6 | c.117 others(25): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | TogoVar |