| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ATP2B2_chr3_10319023_10510586 | 10488232 | C | CCCATCCA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00735.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0047others(13): Show | a0001c0001t0001g0146a0001c0001t0004g0228a0001c0001t0047g0277others(15): Show | 18 | 290 | 0.0621 | 8 | c.-32 others(29): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
| ATP2B2_chr3_10319023_10510586 | 10488234 | T | TATCCATC others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02056.hp1 HG02109.hp2 others(8): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(6): Show | a0001c0002t0006a0001c0003t0027a0001c0003t0029others(8): Show | a0001c0002t0006g0005a0001c0003t0027g0244a0001c0003t0029g0216others(8): Show | 11 | 290 | 0.0379 | 8 | c.-32 others(29): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
| ATP2B2_chr3_10319023_10510586 | 10488463 | A | ATTCATTC others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02056.hp1 HG02257.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0008others(2): Show | a0001c0001t0005a0001c0004t0001a0001c0004t0051others(3): Show | a0001c0001t0005g0206a0001c0004t0001g0176a0001c0004t0051g0015others(3): Show | 6 | 290 | 0.0207 | 8 | c.-32 others(29): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
| ATP2B2_chr3_10319023_10510586 | 10488463 | A | ATTCCTTC others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG00639.hp1 others(46): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0168a0001c0001t0001g0227a0001c0001t0001g0235others(46): Show | 49 | 290 | 0.1690 | 8 | c.-32 others(29): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
| ATP2B2_chr3_10319023_10510586 | 10488511 | C | CTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG02074.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0003a0001c0001t0014a0001c0001t0015others(8): Show | a0001c0001t0003g0219a0001c0001t0014g0259a0001c0001t0015g0108others(8): Show | 11 | 290 | 0.0379 | 8 | c.-32 others(29): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
| ATP2B3_chrX_153512642_153587929 | 153524238 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0230 | 1 | 267 | 0.0038 | 8 | c.-12 others(27): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP2B3_chrX_153512642_153587929 | 153571003 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01081.hp1 HG01106.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0004a0001c0001t0005a0001c0001t0033others(5): Show | a0001c0001t0004g0014a0001c0001t0005g0163a0001c0001t0033g0214others(8): Show | 12 | 267 | 0.0449 | 8 | c.334 others(27): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP2B4_chr1_203621832_203749081 | 203633713 | G | GATAAATA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(224): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0016others(224): Show | 227 | 318 | 0.7138 | 8 | c.-46 others(27): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATP2B4_chr1_203621832_203749081 | 203717626 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG02109.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(11): Show | a0001c0001t0002g0153a0001c0001t0004g0245a0001c0001t0006g0006others(16): Show | 19 | 318 | 0.0598 | 8 | c.240 others(27): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATP2B4_chr1_203621832_203749081 | 203719721 | T | TATAAATA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00544.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0015others(8): Show | a0001c0001t0003g0001a0001c0001t0005g0131a0001c0001t0015g0052others(12): Show | 16 | 318 | 0.0503 | 8 | c.240 others(25): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATP2B4_chr1_203621832_203749081 | 203723420 | A | ATCTCTCT others(1): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01243.hp2 HG01258.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0002g0153a0001c0001t0004g0173a0001c0001t0004g0255others(4): Show | 7 | 318 | 0.0220 | 8 | c.302 others(25): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATP2B4_chr1_203621832_203749081 | 203723457 | T | TCTCCCTC others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01168.hp1 HG01169.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(11): Show | a0001c0001t0002g0193a0001c0001t0002g0232a0001c0001t0002g0295others(23): Show | 26 | 318 | 0.0818 | 8 | c.302 others(25): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATP2B4_chr1_203621832_203749081 | 203744827 | T | TACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG01346.hp1 HG06807.hp1 NA19002.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0012a0001c0004t0004a0001c0004t0027 | a0001c0001t0012g0227a0001c0004t0004g0278a0001c0004t0027g0226 | 3 | 318 | 0.0094 | 8 | c.*49 others(19): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 747 | chr1 | TogoVar | ||||||
| ATP2B4_chr1_203621832_203749081 | 203745269 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG02451.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0036others(6): Show | a0001c0001t0001g0156a0001c0001t0002g0051a0001c0001t0036g0117others(12): Show | 15 | 318 | 0.0472 | 8 | c.*54 others(19): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1189 | chr1 | TogoVar | ||||||
| ATP2C1_chr3_130889084_131008150 | 130941222 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01346.hp1 HG02809.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0369a0001c0003t0001g0370a0001c0003t0001g0371others(2): Show | 5 | 382 | 0.0131 | 8 | c.423 others(23): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 7/27 | chr3 | TogoVar | ||||||
| ATP2C1_chr3_130889084_131008150 | 130941252 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00735.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0089a0001c0001t0001g0095a0001c0001t0001g0143others(29): Show | 32 | 382 | 0.0838 | 8 | c.423 others(23): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATP2C1_chr3_130889084_131008150 | 130941254 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02257.hp1 HG02451.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011others(5): Show | 8 | 382 | 0.0209 | 8 | c.423 others(23): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATP2C1_chr3_130889084_131008150 | 130953076 | C | CGTATGTA others(1): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03579.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0145a0001c0001t0001g0148 | 3 | 382 | 0.0079 | 8 | c.532 others(23): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATP2C1_chr3_130889084_131008150 | 130970369 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00609.hp2 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0094a0001c0001t0001g0105others(36): Show | 40 | 382 | 0.1047 | 8 | c.141 others(27): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 17/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATP5F1A_chr18_46075248_46103296 | 46096500 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01943.hp2 HG02004.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0040a0001c0001t0106a0001c0001t0111others(5): Show | a0001c0001t0040g0273a0001c0001t0106g0230a0001c0001t0111g0254others(9): Show | 14 | 390 | 0.0359 | 8 | c.61- others(23): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 1/11 | chr18 | TogoVar | ||||||
| ATP5F1E_chr20_59020475_59037335 | 59022000 | T | TAAACAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG02293.hp1 HG03491.hp1 NA18969.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0003g0004 | 9 | 404 | 0.0223 | 8 | c.*68 others(19): Show |
ATP5F1E | ENSG00000124172.10 | transcript | ENST00000243997.8 | protein_coding | 3474 | chr20 | TogoVar | ||||||
| ATP5F1E_chr20_59020475_59037335 | 59022004 | T | TAAACAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp1 others(75): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0011others(7): Show | 78 | 404 | 0.1931 | 8 | c.*68 others(19): Show |
ATP5F1E | ENSG00000124172.10 | transcript | ENST00000243997.8 | protein_coding | 3470 | chr20 | TogoVar | ||||||
| ATP5F1E_chr20_59020475_59037335 | 59022008 | T | TAAACAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023 | a0001c0001t0001g0001a0001c0001t0023g0041 | 3 | 404 | 0.0074 | 8 | c.*68 others(19): Show |
ATP5F1E | ENSG00000124172.10 | transcript | ENST00000243997.8 | protein_coding | 3466 | chr20 | TogoVar | ||||||
| ATP5MC2_chr12_53660170_53681083 | 53664344 | A | AAAATAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(206): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(117): Show | 209 | 418 | 0.5000 | 8 | c.*96 others(17): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 825 | chr12 | TogoVar | ||||||
| ATP5MC2_chr12_53660170_53681083 | 53667956 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01261.hp2 HG01433.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224a0001c0001t0001g0226a0001c0001t0001g0230others(2): Show | 5 | 418 | 0.0120 | 8 | c.311 others(25): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | ||||||
| ATP5MC2_chr12_53660170_53681083 | 53669016 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01106.hp2 HG01255.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069a0001c0001t0001g0170a0001c0001t0001g0171 | 4 | 418 | 0.0096 | 8 | c.311 others(23): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | ||||||
| ATP5MC2_chr12_53660170_53681083 | 53672083 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(105): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0009others(58): Show | 108 | 418 | 0.2584 | 8 | c.39+ others(21): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
| ATP5MC2_chr12_53660170_53681083 | 53673319 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01109.hp2 HG01257.hp1 others(36): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0016a0001c0001t0001g0029a0001c0001t0001g0030others(26): Show | 39 | 418 | 0.0933 | 8 | c.-31 others(23): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
| ATP5MC2_chr12_53660170_53681083 | 53679238 | C | CGAGAGAG others(1): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG01099.hp2 HG01106.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0007others(18): Show | 22 | 418 | 0.0526 | 8 | c.-32 others(19): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 3156 | chr12 | TogoVar | ||||||
| ATP5MF_chr7_99453195_99471167 | 99457842 | C | CATCCGAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01175.hp1 others(33): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0003c0004t0002 | a0001c0001t0001g0036a0001c0001t0001g0048a0001c0001t0001g0053others(21): Show | 36 | 346 | 0.1041 | 8 | c.*48 others(17): Show |
ATP5MF | ENSG00000241468.8 | transcript | ENST00000292475.8 | protein_coding | 352 | chr7 | TogoVar | ||||||
| ATP5MJ_chr14_103907288_103926529 | 103908165 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 HG01256.hp2 HG01993.hp2 others(7): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0002g0012a0001c0001t0004g0048a0001c0001t0004g0049others(3): Show | 10 | 440 | 0.0227 | 8 | c.*45 others(19): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 4122 | chr14 | TogoVar | ||||||
| ATP5PO_chr21_33898453_33920804 | 33911662 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00735.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0032a0001c0001t0001g0060others(3): Show | 17 | 436 | 0.0390 | 8 | c.198 others(23): Show |
ATP5PO | ENSG00000241837.7 | transcript | ENST00000290299.7 | protein_coding | 3/6 | chr21 | TogoVar | ||||||
| ATP6AP2_chrX_40575970_40611848 | 40602923 | T | TTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 299 | 0.0033 | 8 | c.858 others(25): Show |
ATP6AP2 | ENSG00000182220.15 | transcript | ENST00000636580.2 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP6V0A1_chr17_42453878_42527579 | 42486452 | G | GTAAAATG others(1): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03540.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0149a0001c0001t0001g0152 | 3 | 320 | 0.0094 | 8 | c.811 others(23): Show |
ATP6V0A1 | ENSG00000033627.18 | transcript | ENST00000343619.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| ATP6V0A2_chr12_123707353_123766755 | 123712061 | T | TCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG02559.hp2 HG02895.hp2 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0019a0001c0006t0011 | a0001c0001t0019g0192a0001c0001t0019g0193a0001c0006t0011g0184others(1): Show | 4 | 222 | 0.0180 | 8 | c.-50 others(17): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 291 | chr12 | TogoVar | ||||||
| ATP6V0A2_chr12_123707353_123766755 | 123712076 | C | CACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 HG02717.hp1 HG02896.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0134a0001c0001t0004g0135a0001c0001t0004g0136others(2): Show | 5 | 222 | 0.0225 | 8 | c.-49 others(17): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 276 | chr12 | TogoVar | ||||||
| ATP6V0A2_chr12_123707353_123766755 | 123735142 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG01074.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0004 | a0001c0001t0001a0001c0001t0014a0001c0001t0025others(4): Show | a0001c0001t0001g0052a0001c0001t0001g0078a0001c0001t0001g0081others(15): Show | 20 | 222 | 0.0901 | 8 | c.732 others(23): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ATP6V0A2_chr12_123707353_123766755 | 123740145 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01074.hp2 HG01081.hp2 others(32): Show |
a0001a0005a0007others(1): Show | a0001c0001a0001c0011a0005c0015others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0030others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0020a0001c0001t0001g0022others(29): Show | 35 | 222 | 0.1577 | 8 | c.103 others(27): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ATP6V0A2_chr12_123707353_123766755 | 123765564 | T | TTATCTAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG00609.hp2 others(40): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0016others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0011others(38): Show | 43 | 222 | 0.1937 | 8 | c.*75 others(19): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 3810 | chr12 | TogoVar | ||||||
| ATP6V0A2_chr12_123707353_123766755 | 123766287 | G | GCCTACCT others(1): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG01256.hp2 HG02257.hp2 others(15): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(3): Show | a0001c0001t0001g0029a0001c0001t0005g0038a0001c0001t0005g0039others(15): Show | 18 | 222 | 0.0811 | 8 | c.*82 others(19): Show |
ATP6V0A2 | ENSG00000185344.15 | transcript | ENST00000330342.8 | protein_coding | 4533 | chr12 | TogoVar | ||||||
| ATP6V0A4_chr7_138701294_138803196 | 138708017 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01257.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0225a0001c0001t0001g0261a0001c0001t0001g0314others(8): Show | 11 | 376 | 0.0293 | 8 | c.243 others(27): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 21/21 | chr7 | TogoVar | ||||||
| ATP6V0A4_chr7_138701294_138803196 | 138718201 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG00733.hp2 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0007others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0072a0001c0001t0001g0263a0001c0001t0001g0271others(25): Show | 28 | 376 | 0.0745 | 8 | c.214 others(27): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 19/21 | chr7 | TogoVar | ||||||
| ATP6V0A4_chr7_138701294_138803196 | 138728153 | A | ATAAATCA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(93): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0008others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(30): Show | a0001c0001t0001g0020a0001c0001t0001g0027a0001c0001t0001g0051others(93): Show | 96 | 376 | 0.2553 | 8 | c.201 others(25): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 18/21 | chr7 | TogoVar | ||||||
| ATP6V0A4_chr7_138701294_138803196 | 138730341 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01516.hp1 HG01517.hp1 others(14): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0004others(6): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(6): Show | a0001c0001t0001g0180a0001c0001t0001g0290a0001c0001t0001g0293others(14): Show | 17 | 376 | 0.0452 | 8 | c.190 others(27): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 17/21 | chr7 | TogoVar | ||||||
| ATP6V0A4_chr7_138701294_138803196 | 138731901 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02922.hp1 HG03669.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0030a0002c0002 | a0001c0001t0001a0001c0030t0001a0002c0002t0001 | a0001c0001t0001g0071a0001c0001t0001g0091a0001c0001t0001g0106others(3): Show | 6 | 376 | 0.0160 | 8 | c.190 others(25): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 17/21 | chr7 | TogoVar | ||||||
| ATP6V0A4_chr7_138701294_138803196 | 138736091 | A | AACAAACA others(1): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03209.hp1 HG03579.hp1 others(1): Show |
a0001a0003a0004others(1): Show | a0001c0005a0003c0031a0004c0011others(1): Show | a0001c0005t0002a0003c0031t0006a0004c0011t0001others(1): Show | a0001c0005t0002g0359a0003c0031t0006g0344a0004c0011t0001g0063others(1): Show | 4 | 376 | 0.0106 | 8 | c.157 others(27): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 15/21 | chr7 | TogoVar | ||||||
| ATP6V0A4_chr7_138701294_138803196 | 138758739 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG00733.hp1 HG01109.hp1 others(16): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0001c0007others(6): Show | a0001c0001t0001a0001c0005t0001a0001c0007t0001others(8): Show | a0001c0001t0001g0156a0001c0001t0001g0178a0001c0001t0001g0184others(16): Show | 19 | 376 | 0.0505 | 8 | c.639 others(25): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 8/21 | chr7 | TogoVar | ||||||
| ATP6V0C_chr16_2508952_2525218 | 2517713 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02523.hp2 HG02559.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0034a0001c0001t0001g0062others(1): Show | 5 | 336 | 0.0149 | 8 | c.80- others(23): Show |
ATP6V0C | ENSG00000185883.12 | transcript | ENST00000330398.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ATP6V0D2_chr8_86093910_86159225 | 86104850 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG02622.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0006t0001a0002c0002t0001 | a0001c0001t0001g0026a0001c0001t0001g0286a0001c0001t0001g0296others(10): Show | 13 | 360 | 0.0361 | 8 | c.130 others(25): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ATP6V0D2_chr8_86093910_86159225 | 86126236 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01074.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041a0001c0001t0001g0051a0001c0001t0001g0077others(3): Show | 6 | 360 | 0.0167 | 8 | c.302 others(27): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |